Entry Id	Short Citation	Nucleotide change	Amino acid change	Type of sequence change	Domain change location	Phenotype	Mutation/polymorphism	Sex
6839	Daniela�Zahorakova, ... Pubmed: 26984561	c.-395G>T	Intronic variation	Missense	5'UTR	Not Rett synd. - mental retardation	Polymorphism not causing disease	F
2551	Harvey, ... Pubmed: 17171659	c.-206_-205delGC	5'UTR variation	5'UTR variation	5'UTR	Not Rett synd. - non-specific mental retardation	Unknown	F
2552	Harvey, ... Pubmed: 17171659	c.-187_-186delAG	5'UTR variation	5'UTR variation	5'UTR	Not Rett synd. - non-specific mental retardation	Unknown	F
2553	Harvey, ... Pubmed: 17171659	c.-187_-186delinsTT	5'UTR variation	5'UTR variation	5'UTR	Not Rett synd. - non-specific mental retardation	Unknown	F
1820	Bunyan, ...	c.-168-?_26+?del	p.M1?	exon deletions	N-term	Rett syndrome - Not certain	Mutation associated with disease	F
1865	Bunyan, ...	c.-168-?_26+?del	p.M1?	exon deletions	N-term	Rett syndrome - Not certain	Mutation associated with disease	F
1980	Jinxiu Shi, ... Pubmed: 15841480	c.-168-?_*?del	p.M1?	Frameshift insertion or deletion	N-term	Rett syndrome - Classical	Mutation associated with disease	F
1971	M Meins, ... Pubmed: 15689435	c.-168-?_*?dup	p.M1?	In-frame insertion or deletion	N-term	Not Rett synd. - Sporadic mental retardation	Unknown	M
1972	M Meins, ... Pubmed: 15689435	c.-168-?_*?dup	p.M1?	In-frame insertion or deletion	N-term	Not Rett synd. - Unaffected family member	Unknown	F
1982	Van Esch H, ... Pubmed: 16080119	c.-168-?_*?dup	p.M1?	In-frame insertion or deletion	N-term	Not Rett synd. - X-linked mental retardation	Unknown	M
1983	Van Esch H, ... Pubmed: 16080119	c.-168-?_*?dup	p.M1?	In-frame insertion or deletion	N-term	Not Rett synd. - X-linked mental retardation	Unknown	M
1984	Van Esch H, ... Pubmed: 16080119	c.-168-?_*?dup	p.M1?	In-frame insertion or deletion	N-term	Not Rett synd. - Sporadic mental retardation	Unknown	M
1985	Van Esch H, ... Pubmed: 16080119	c.-168-?_*?dup	p.M1?	In-frame insertion or deletion	N-term	Not Rett synd. - Unaffected family member	Unknown	F
1986	Van Esch H, ... Pubmed: 16080119	c.-168-?_*?dup	p.M1?	In-frame insertion or deletion	N-term	Not Rett synd. - Unaffected family member	Unknown	F
1987	Van Esch H, ... Pubmed: 16080119	c.-168-?_*?dup	p.M1?	In-frame insertion or deletion	N-term	Not Rett synd. - X-linked mental retardation	Unknown	M
1988	Van Esch H, ... Pubmed: 16080119	c.-168-?_*?dup	p.M1?	In-frame insertion or deletion	N-term	Not Rett synd. - X-linked mental retardation	Unknown	M
1989	Van Esch H, ... Pubmed: 16080119	c.-168-?_*?dup	p.M1?	In-frame insertion or deletion	N-term	Not Rett synd. - Unaffected family member	Unknown	F
1990	Van Esch H, ... Pubmed: 16080119	c.-168-?_*?dup	p.M1?	In-frame insertion or deletion	N-term	Not Rett synd. - Unaffected family member	Unknown	F
1991	Van Esch H, ... Pubmed: 16080119	c.-168-?_*?dup	p.M1?	In-frame insertion or deletion	N-term	Not Rett synd. - Unaffected family member	Unknown	F
1992	Van Esch H, ... Pubmed: 16080119	c.-168-?_*?dup	p.M1?	In-frame insertion or deletion	N-term	Not Rett synd. - X-linked mental retardation	Unknown	M
1993	Van Esch H, ... Pubmed: 16080119	c.-168-?_*?dup	p.M1?	In-frame insertion or deletion	N-term	Not Rett synd. - X-linked mental retardation	Unknown	M
1994	Van Esch H, ... Pubmed: 16080119	c.-168-?_*?dup	p.M1?	In-frame insertion or deletion	N-term	Not Rett synd. - Unaffected family member	Unknown	F
1995	Van Esch H, ... Pubmed: 16080119	c.-168-?_*?dup	p.M1?	In-frame insertion or deletion	N-term	Not Rett synd. - Unaffected family member	Unknown	F
1996	Van Esch H, ... Pubmed: 16080119	c.-168-?_*?dup	p.M1?	In-frame insertion or deletion	N-term	Not Rett synd. - Unaffected family member	Unknown	F
2073	Cardiff, ...	c.-168-?_26+?del	p.M1?	exon deletions	N-term	Rett syndrome - Classical	Mutation associated with disease	F
2075	Cardiff, ...	c.-168-?_26+?del	p.M1?	exon deletions	N-term	Rett syndrome - Atypical	Mutation associated with disease	F
2076	Cardiff, ...	c.-168-?_26+?del	p.M1?	exon deletions	N-term	Rett syndrome - Classical	Mutation associated with disease	F
2498	D Bartholdi, ... Pubmed: 16630165	c.-168-?_26+?del	p.M1?	exon deletions	N-term	Rett syndrome - Classical	Mutation associated with disease	F
2534	Kirstine Ravn, ... Pubmed: 15712379	c.-168-?_26+?del	p.M1?	exon deletions	N-term	Rett syndrome - Classical	Mutation associated with disease	F
2760	Quenard, ... Pubmed: 16829352	c.-168-?_26+?del	p.M1?	large deletion	N-term	Rett syndrome - classical	Mutation associated with disease	F
2761	Quenard, ... Pubmed: 16829352	c.-168-?_26+?del	p.M1?	large deletion	N-term	Rett syndrome - classical	Mutation associated with disease	F
2762	Quenard, ... Pubmed: 16829352	c.-168-?_*?del	p.M1?	large deletion	N-term	Rett syndrome - classical	Mutation associated with disease	F
2783	Pan, ... Pubmed: 17026625	c.-168-?_26+?del	p.M1?	exon deletions	N-term	Rett syndrome - classical	Mutation associated with disease	F
3611	Li, ... Pubmed: 17089071	c.-168-?_26+?del	p.M1?	exon deletions	N-term	Rett syndrome - not certain	Mutation associated with disease	F
3769	Archer HL, ... Pubmed: 16183801	c.-168-?_26+?del	p.M1?	exon deletions	N-term	Rett syndrome - classical	Mutation associated with disease	F
3770	Archer HL, ... Pubmed: 16183801	c.-168-?_26+?del	p.M1?	exon deletions	N-term	Rett syndrome - classical	Mutation associated with disease	F
3771	Archer HL, ... Pubmed: 16183801	c.-168-?_26+?del	p.M1?	exon deletions	N-term	Rett syndrome - classical	Mutation associated with disease	F
4600	Rajaei, ... Pubmed: 21212452	c.-168-?_26+?del (deletion exons 1 and 2)	p.M1?	exon deletions	N-term	Rett syndrome - congenital	Mutation associated with disease	F
1916	Boulanger, ...	c.-167_-99del	MeCP2_e1: p.M1?	frameshift insertion or deletion	N-term	Rett syndrome - Not certain	Unknown	F
2074	Cardiff, ...	c.-167_-99del	MeCP2_e1: p.M1?	frameshift insertion or deletion	N-term	Rett syndrome - Atypical	Unknown	F
2759	Quenard, ... Pubmed: 16829352	c.-167_-99del	MeCP2_e1: p.M1?	large deletion	N-term	Rett syndrome - classical	Mutation associated with disease	F
2929	Mnatzakanian, ... Pubmed: 15034579	c.-167_-99del	MeCP2_e1: p.M1?	frameshift insertion or deletion	N-term	Rett syndrome - not certain	Mutation associated with disease	F
3768	Archer HL, ... Pubmed: 16183801	c.-167_-99del	MeCP2_e1: p.M1?	exonic deletions	N-term	Rett syndrome - atypical	Mutation associated with disease	F
5136	Maortua, ... Pubmed: 23810759	c.-167_-99del	MeCP2_e1: p.M1?	exonic deletions	N-term	Rett syndrome - atypical	Mutation associated with disease	F
3865	Saunders, ... Pubmed: 19365833	c.-160A>T	MeCP2_e1: p.M1?	missense	N-term	Rett syndrome - classical	Unknown	F
3868	Saunders, ... Pubmed: 19365833	c.-160A>G	MeCP2_e1: p.M1?	missense	N-term	Rett syndrome - not certain	Unknown	F
6625	Directly submitted	c.-160A>T	MeCP2_e1: p.M1?	missense	exon 1	Rett syndrome - classical	Mutation associated with disease	F
6343	Directly submitted	c.-159T>C	MeCP2_e1: p.M1?	missense	N-term	Rett syndrome - classical	Mutation associated with disease	F
3864	Fichou, ... Pubmed: 19034540	c.-156C>T	MeCP2_e1: p.A2V	missense	N-term	Rett syndrome - classical	Unknown	F
3867	Saunders, ... Pubmed: 19365833	c.-156C>T	MeCP2_e1: p.A2V	missense	N-term	Rett syndrome - not certain	Unknown	F
6623	Directly submitted	c.-156C>T	MeCP2_e1: p.A2V	missense	exon 1	Rett syndrome - classical	Mutation associated with disease	F
6622	Directly submitted	c.-156C>T	MeCP2_e1: p.A2V	missense	exon 1	Not Rett synd. - mental retardation	Mutation associated with disease	F
2554	Harvey, ... Pubmed: 17171659	c.-146_-138dup9	MeCP2_e1: p.A6_A8dup	in-frame insertion or deletion	N-term	Not Rett synd. - non-specific mental retardation	Unknown	F
2555	Harvey, ... Pubmed: 17171659	c.-146_-138dup9	MeCP2_e1: p.A6_A8dup	in-frame insertion or deletion	N-term	Not Rett synd. - non-specific mental retardation	Unknown	F
6627	Directly submitted	c.-146_-138del9	MeCP2_e1: p.A6_A8del	in-frame insertion or deletion	exon 1	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
6626	Directly submitted	c.-146_-138del9	MeCP2_e1: p.A6_A8del	in-frame insertion or deletion	exon 1	Rett syndrome - classical	Polymorphism not causing disease	F
2162	Cardiff, ...	c.-143_-138dup	MeCP2_e1: p.A7_A8dup	In-frame insertion or deletion	N-term	Rett syndrome - Atypical	Polymorphism not causing disease	F
2556	Harvey, ... Pubmed: 17171659	c.-143_-138del6	MeCP2_e1: p.A7_A8del	in-frame insertion or deletion	N-term	Not Rett synd. - non-specific mental retardation	Unknown	F
2758	Quenard, ... Pubmed: 16829352	c.-143_-138dup	MeCP2_e1: p.A7_A8dup	in-frame insertion or deletion	N-term	Rett syndrome - atypical	Polymorphism not causing disease	F
2912	Evans, ... Pubmed: 15367913	c.-143_-138dup	MeCP2_e1: p.A7_A8dup	in-frame insertion or deletion	N-term	Rett syndrome - classical	Polymorphism not causing disease	F
3987	Quenard, ... Pubmed: 16829352	c.-143_-138dup	MeCP2_e1: p.A7_A8dup	in-frame insertion or deletion	N-term	Not Rett synd. - seizures at adolescence	Polymorphism not causing disease	F
5113	Directly submitted	c.-143_-138dup	MeCP2_e1: p.A7_A8dup	in-frame insertion or deletion	N-term	Not known	Polymorphism not causing disease	F
5114	Directly submitted	c.-143_-138dup	MeCP2_e1: p.A7_A8dup	in-frame insertion or deletion	N-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
6844	Daniela�Zahorakova, ... Pubmed: 26984561	c.-143_-138dup6	MeCP2_e1: p.A7_A8dup	in-frame insertion or deletion	5'UTR	Not Rett synd. - autism	Polymorphism not causing disease	F
6843	Daniela�Zahorakova, ... Pubmed: 26984561	c.-143_-138dup6	MeCP2_e1: p.A7_A8dup	in-frame insertion or deletion	5'UTR	Not Rett synd. - mental retardation	Polymorphism not causing disease	F
6842	Daniela�Zahorakova, ... Pubmed: 26984561	c.-143_-138dup6	MeCP2_e1: p.A7_A8dup	in-frame insertion or deletion	5'UTR	Rett syndrome - atypical	Polymorphism not causing disease	F
6841	Daniela�Zahorakova, ... Pubmed: 26984561	c.-143_-138dup6	MeCP2_e1: p.A7_A8dup	in-frame insertion or deletion	5'UTR	Rett syndrome - atypical	Polymorphism not causing disease	F
6840	Daniela�Zahorakova, ... Pubmed: 26984561	c.-143_-138dup6	MeCP2_e1: p.A7_A8dup	in-frame insertion or deletion	5'UTR	Not Rett synd. - mental retardation	Polymorphism not causing disease	M
2163	Cardiff, ...	c.-140_-138dup3	MeCP2_e1: p.A8dup	In-frame insertion or deletion	N-term	Not known	Unknown	F
2802	Ravn, ... Pubmed: 15857422	c.-138_-134dupCGCCG	MeCP2_e1: p.S10RfsX37	frameshift insertion or deletion	N-term	Rett syndrome - classical	Mutation associated with disease	F
6993	Narumi Tokaji, ... Pubmed: 29341476	c.-138_-134dup		frameshift insertion or deletion	N-term	Rett syndrome - classical	Mutation associated with disease	M
2497	D Bartholdi, ... Pubmed: 16630165	c.-131delinsGA	MeCP2_e1: p.S10fs	frameshift combined insertion and deletion	N-term	Rett syndrome - Classical	Mutation associated with disease	F
3595	Li, ... Pubmed: 17089071	c.-119_-114dupAGGAGG	MeCP2_e1: p.G15_G16dup	in-frame insertion or deletion	N-term	Rett syndrome - not certain	Unknown	F
2004	Bradford Coffee	c.-116_-114dupAGG	MeCP2_e1: p.G16dup	In-frame insertion or deletion	N-term	Not known	Polymorphism not causing disease	F
2005	Bradford Coffee	c.-116_-114dupAGG	MeCP2_e1: p.G16dup	In-frame insertion or deletion	N-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
2006	Bradford Coffee	c.-116_-114dupAGG	MeCP2_e1: p.G16dup	In-frame insertion or deletion	N-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	M
2557	Harvey, ... Pubmed: 17171659	c.-116_-114dupAGG	MeCP2_e1: p.G16dup	in-frame insertion or deletion	N-term	Not Rett synd. - non-specific mental retardation	Polymorphism not causing disease	F
2558	Harvey, ... Pubmed: 17171659	c.-116_-114dupAGG	MeCP2_e1: p.G16dup	in-frame insertion or deletion	N-term	Not Rett synd. - non-specific mental retardation	Polymorphism not causing disease	F
2559	Harvey, ... Pubmed: 17171659	c.-116_-114dupAGG	MeCP2_e1: p.G16dup	in-frame insertion or deletion	N-term	Not Rett synd. - non-specific mental retardation	Polymorphism not causing disease	F
2560	Harvey, ... Pubmed: 17171659	c.-116_-114dupAGG	MeCP2_e1: p.G16dup	in-frame insertion or deletion	N-term	Not Rett synd. - non-specific mental retardation	Polymorphism not causing disease	F
2561	Harvey, ... Pubmed: 17171659	c.-116_-114dupAGG	MeCP2_e1: p.G16dup	in-frame insertion or deletion	N-term	Not Rett synd. - non-specific mental retardation	Polymorphism not causing disease	F
2562	Harvey, ... Pubmed: 17171659	c.-116_-114dupAGG	MeCP2_e1: p.G16dup	in-frame insertion or deletion	N-term	Not Rett synd. - non-specific mental retardation	Polymorphism not causing disease	F
3915	Harvey, ... Pubmed: 17171659	c.-116_-114dupAGG	MeCP2_e1: p.G16dup	in-frame insertion or deletion	N-term	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	F
3916	Harvey, ... Pubmed: 17171659	c.-116_-114dupAGG	MeCP2_e1: p.G16dup	in-frame insertion or deletion	N-term	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	F
3917	Harvey, ... Pubmed: 17171659	c.-116_-114dupAGG	MeCP2_e1: p.G16dup	in-frame insertion or deletion	N-term	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	F
4822	Corbani, ... Pubmed: 21954873	c.-116_-114dupAGG	MeCP2_e1: p.G16dup	in-frame insertion or deletion	N-term	Not Rett synd. - not certain	Polymorphism not causing disease	F
6345	Directly submitted	c.-116_-114dupAGG	MeCP2_e1: p.G16dup	in-frame insertion or deletion	N-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
6344	Directly submitted	c.-116_-114dupAGG	MeCP2_e1: p.G16dup	in-frame insertion or deletion	N-term	Rett syndrome - classical	Polymorphism not causing disease	F
6845	Daniela�Zahorakova, ... Pubmed: 26984561	c.-116_-114dupAGG	MeCP2_e1: p.G16dup	in-frame insertion or deletion	N-term	Not Rett synd. - mental retardation	Polymorphism not causing disease	F
6899	Directly submitted	c.-116_-114dup	p.Gly16dup	in-frame insertion or deletion	N-term	Not known	Polymorphism not causing disease	M
2801	Amir, ... Pubmed: 15689438	c.-114_-104del11	MeCP2_e1: p.G16EfsX22	frameshift insertion or deletion	N-term	Rett syndrome - atypical	Mutation associated with disease	F
2803	Ravn, ... Pubmed: 15857422	c.-114_-104del11	MeCP2_e1: p.G16EfsX22	frameshift insertion or deletion	N-term	Rett syndrome - classical	Mutation associated with disease	F
2916	Saxena, ... Pubmed: 16155192	c.-114_-104del11	MeCP2_e1: p.G16EfsX22	frameshift insertion or deletion	N-term	Rett syndrome - atypical	Mutation associated with disease	F
2928	Mnatzakanian, ... Pubmed: 15034579	c.-114_-104del11	MeCP2_e1: p.G16EfsX22	frameshift insertion or deletion	N-term	Rett syndrome - not certain	Mutation associated with disease	F
4445	Das, ...	c.-114_-104del11	MeCP2_e1: p.G16EfsX22	frameshift insertion or deletion	N-term	Not known	Mutation associated with disease	F
4446	Das, ...	c.-114_-104del11	MeCP2_e1: p.G16EfsX22	frameshift insertion or deletion	N-term	Not known	Mutation associated with disease	M
5121	Maortua, ... Pubmed: 23810759	c.-114_-104del11	MeCP2_e1: p.G16EfsX22	frameshift insertion or deletion	N-term	Rett syndrome - classical	Mutation associated with disease	F
6628	Directly submitted	c.-114_-104del11	MeCP2_e1: p.G16EfsX22	frameshift insertion or deletion	exon 1	Not Rett synd. - mental retardation	Mutation associated with disease	F
6624	Directly submitted	c.-114_-104dup11	MeCP2_e1: p.R20AfsX28	frameshift insertion or deletion	exon 1	Rett syndrome - classical	Mutation associated with disease	F
2756	Quenard, ... Pubmed: 16829352	c.-113_-106dup	MeCP2_e1: p.G19AfsX28	frameshift insertion or deletion	N-term	Rett syndrome - classical	Mutation associated with disease	F
5122	Maortua, ... Pubmed: 23810759	c.-113_-106del8	MeCP2_e1: p.E18TfsX21	frameshift insertion or deletion	N-term	Not Rett synd. - Rett-like	Mutation associated with disease	F
5233	Sheikh, ... Pubmed: 23866855	c.-113C>T	MeCP2_e1: p.Glu17Lysfs*22	splicing	N-term	Rett syndrome - classical	Mutation associated with disease	F
2563	Harvey, ... Pubmed: 17171659	c.-112G>A	MeCP2_e1: p.E17K	missense	N-term	Not Rett synd. - non-specific mental retardation	Unknown	F
2781	Chunshu, ... Pubmed: 17101000	c.-102_-101delGA	MeCP2_e1: p.R20TfsX40	frameshift insertion or deletion	N-term	Rett syndrome - classical	Mutation associated with disease	F
3866	Saunders, ... Pubmed: 19365833	c.-99+2_-99+3delTG	intronic variation	intronic variation	intronic	Rett syndrome - classical	Mutation associated with disease	F
2757	Quenard, ... Pubmed: 16829352	c.-99+2_-99+3delTG	intronic variation	intronic variation	intronic	Rett syndrome - classical	Mutation associated with disease	F
2800	Amir, ... Pubmed: 15689438	c.-99+2_-99+3delTG	intronic variation	intronic variation	intronic	Rett syndrome - classical	Mutation associated with disease	F
3762	Fukuda, ... Pubmed: 15737703	c.-99+1G>A	intronic variation	intronic variation	intronic	Rett syndrome - classical	Unknown	F
5327	Directly submitted	c.-99+2_30delTG	Intronic variation	Frameshift deletion	N-term	Rett syndrome - male variant	Mutation associated with disease	M
2975	Kammoun, ... Pubmed: 15173251	c.-98-?_377+?del (deletion of exons 2 and 3)	p.M1?	frameshift insertion or deletion	N-term	Rett syndrome - atypical	Mutation associated with disease	F
951	Bienvenu, ... Pubmed: 10814719	c.-15C>T	5'UTR variation	5'UTR variation	5'UTR	Not Rett synd. - Unaffected family member	Unknown	F
950	Bienvenu, ... Pubmed: 10814719	c.-15C>T	5'UTR variation	5'UTR variation	5'UTR	Rett syndrome - Classical	Unknown	F
9	Bunyan, ...	uncertain	p.I314I	Silent	C-term	Rett syndrome - Not certain	Silent polymorphism	F
37	Hoffbuhr, ... Pubmed: 11402105	c.[1038_1119del82; 1169_1339del171ins137]	p.S346fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
48	Hoffbuhr, ... Pubmed: 11402105	c.*487G>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
122	Huppke, ... Pubmed: 10814718	c.[965C>T(;)999G>T]	p.[P322L(;)G333G]	Missense, silent	C-term	Rett syndrome - Not certain	Unknown	F
128	Amano, ... Pubmed: 10944854	c.[880C>T];[1326C>T]	p.[R294X];[T442T]	Nonsense, silent	TRD, C-term	Rett syndrome - Not certain	Mutation associated with disease	U
129	Amano, ... Pubmed: 10944854	c.[502C>T];[695G>C]	p.[R168X];[G232A]	Nonsense, missense	Inter-domain region, TRD	Rett syndrome - Not certain	Mutation associated with disease	U
131	Amano, ... Pubmed: 10944854	c.[752C>T];[1038_1191del154]	p.[P251L];[S346fs]	Missense, frameshift insertion or deletion	TRD, C-term	Rett syndrome - Not certain	Mutation associated with disease	U
132	Amano, ... Pubmed: 10944854	c.[502C>T];[695G>C]	p.[R168X];[G232A]	Nonsense, missense	Inter-domain region, TRD	Rett syndrome - Not certain	Mutation associated with disease	U
134	Amano, ... Pubmed: 10944854	c.[502C>T];[695G>C]	p.[R168X];[G232A]	Nonsense, missense	Inter-domain region, TRD	Rett syndrome - Not certain	Mutation associated with disease	U
325	Auranen, ... Pubmed: 11245712	not certain	p.L386fs	Not known	C-term	Rett syndrome - Classical	Mutation associated with disease	F
326	Auranen, ... Pubmed: 11245712	not certain	p.L386fs	Not known	C-term	Rett syndrome - Classical	Mutation associated with disease	F
327	Auranen, ... Pubmed: 11245712	not certain	p.L386fs	Not known	C-term	Rett syndrome - Classical	Mutation associated with disease	F
328	Auranen, ... Pubmed: 11245712	not certain	p.L386fs	Not known	C-term	Rett syndrome - Classical	Mutation associated with disease	F
374	Directly submitted	c.[590C>T(;)674C>T]	p.[T197M(;)P225R]	Missense	Inter-domain region, TRD	Rett syndrome - Atypical	Mutation associated with disease	F
381	Directly submitted	c.*93G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Non Rett syndrome control	Polymorphism not causing disease	U
384	Directly submitted	c.[1157_1197del41; 1232_1240del9]	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
396	Directly submitted	c.[880C>T(;)1430G>C]	p.[R294X(;)S477T]	Nonsense	TRD	Rett syndrome - Atypical	Mutation associated with disease	F
423	Directly submitted	c.[1104C>T; 1107_1327del221]	p.[H368H;H370fs]	Silent, frameshift insertion or deletion	C-term	Rett syndrome - Atypical	Mutation associated with disease	F
435	Directly submitted	c.[897C>T(;)1155_1200del46]	p.[T299T(;)L386fs]	Silent, frameshift insertion or deletion	TRD, C-term	Rett syndrome - Atypical	Mutation associated with disease	F
438	Directly submitted	c.[473C>T];[1189G>A]	p.[T158M];[E397K]	Missense	MBD, C-term	Rett syndrome - Atypical	Mutation associated with disease	F
440	Directly submitted	c.[397C>T(;)438C>T]	p.[R133C(;)G146G]	Missense, silent	MBD	Rett syndrome - Classical	Mutation associated with disease	F
441	Directly submitted	c.[819G>T(;)1161C>T]	p.[G273G(;)P387P]	Silent	TRD, C-term	Rett syndrome - Atypical	Silent polymorphism	F
445	Directly submitted	c.*8C>T	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	M
446	Directly submitted	c.[806delG(;) *8C>T]	p.G269fs	frameshift insertion or deletion, 3'UTR variation	TRD-NLS, 3'UTR	Rett syndrome - Classical	Mutation associated with disease	F
449	Directly submitted	c.*8C>T	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
454	Directly submitted	c.[808C>T(;) 1233C>T]	p.[R270X(;) S411S]	nonsense, silent	TRD-NLS, C-term	Rett syndrome - Classical	Mutation associated with disease	F
473	Directly submitted	c.[916C>T(;)984C>T]	p.[R306C(;)L328L]	Missense, silent	TRD, C-term	Rett syndrome - Classical	Mutation associated with disease	F
475	Directly submitted	c.[608C>T(;)763C>T]	p.[T203M(;)R255X]	Missense, nonsense	inter-domain region, TRD	Rett syndrome - Classical	Mutation associated with disease	F
855	Xiang, ... Pubmed: 10745042	c.[1053_1054ins10; 1145_1199del55]	p.K352fs	in-frame combined insertion and deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	U
852	Xiang, ... Pubmed: 10745042	c.[1103_1172del; 1185_1191del]	p.H368fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	U
1116	Buyse, ... Pubmed: 11055898	c.[965_970del6; 1029dupG; 1138_1208del71]	p.[P322_L323del; R344fs]	In-frame insertion or deletion, frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
1117	Buyse, ... Pubmed: 11055898	c.[1118_1300del183ins61];[1157_1197del41]	p.[S373fs];[L386fs]	frameshift combined insertion and deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
1118	Buyse, ... Pubmed: 11055898	c.[1161_1166del6; 1180_1205del26]	p.[P390_P391del;E394Pfs*2]	In-frame insertion or deletion, frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
1120	Buyse, ... Pubmed: 11055898	c.[1163_1173del11; 1176_1193del18]	p.P388fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
1182	Armstrong, ... Pubmed: 11706982	c.[=/398G>A]	p.[=/R133H]	Missense	MBD	Rett syndrome - Male variant	Unknown	M
1204	Bienvenu, ... Pubmed: 11524737	c.[=/167_168delCC]	p.[=/P56fs]	Frameshift insertion or deletion	C-term	Not Rett synd. - not certain	Mutation associated with disease	U
1235	Erlandson, ... Pubmed: 11469283	c.[763C>T(;)1449G>C]	p.[R255X(;)E483D]	Nonsense	TRD, C-term	Rett syndrome - Classical	Mutation associated with disease	F
1236	Erlandson, ... Pubmed: 11469283	c.[802C>T(;) 808C>T]	p.[R268W(;) R270X]	Missense, nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
1237	Erlandson, ... Pubmed: 11469283	c.[750C>T(;)1459T>C]	p.[R250R(;)X487Rext27]	Silent, nonstop	TRD, C-term	Rett syndrome - Classical	Unknown	F
1386	Lam, ... Pubmed: 11106359	c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - autism only	Polymorphism not causing disease	F
1434	Schwartzman, ... Pubmed: 11521215	c.[423C>G];[=]	p.[Y141X];[=]	Nonsense	MBD	Rett syndrome - Male variant	Mutation associated with disease	M
1528	Yamada, ... Pubmed: 11524741	c.[881_1169del289; 1189_1196del8]	p.R294_D398delinsHLSPRA	In-frame insertion or deletion, frameshift insertion or deletion	TRD, C-term	Rett syndrome - classical	Mutation associated with disease	U
1541	Bourdon, ... Pubmed: 11214906	c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Rett syndrome - Not certain	Polymorphism not causing disease	U
1567	Beyer, ... Pubmed: 12384770	c.[984C>T; 1161_1163del]	p.[L328L; P391del]	Silent, in-frame insertion or deletion	C-term	Not Rett synd. - autism only	Polymorphism not causing disease	F
1568	Beyer, ... Pubmed: 12384770	c.[984C>T; 1161_1163del]	p.[L328L; P391del]	Silent, in-frame insertion or deletion	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
1569	Beyer, ... Pubmed: 12384770	c.[984C>T; 1161_1163del]	p.[L328L; P391del]	Silent, in-frame insertion or deletion	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	M
1571	Beyer, ... Pubmed: 12384770	c.[1126C>T];[1126C>T]	p.[P376S];[P376S]	Missense	C-term	Not Rett synd. - autism only	Polymorphism not causing disease	F
1603	Bunyan, ...	c.[1125_1137del13; 1138_1263inv; 1158_1201del; 1263_1264insGGA]	p.P376fs	Frameshift combined insertion and deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
1830	Bunyan, ...	c.[763C>T(;)1071C>T]	p.[R255X(;)S357S]	Nonsense, silent	TRD, C-term	Rett syndrome - Not certain	Mutation associated with disease	F
1845	Bunyan, ...	c.[777C>T(;)1157_1197del41]	p.[A259A(;)L386fs]	Silent, frameshift insertion or deletion	TRD-NLS, C-term	Rett syndrome - Not certain	Mutation associated with disease	F
1875	Bunyan, ...	c.[609G>A(;)905C>T]	p.[T203T(;)P302L]	Silent, missense	Inter-domain region, TRD	Rett syndrome - Not certain	Unknown	F
1913	Directly submitted	c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Rett syndrome - Not certain	Polymorphism not causing disease	F
1914	Directly submitted	c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	M
1915	Directly submitted	c.*122delT	3'UTR variation	3'UTR variation	3'UTR	Rett syndrome - Not certain	Unknown	F
1978	Tero Ylisaukko-oja, ... Pubmed: 15578581	c.*93G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Sporadic mental retardation	Polymorphism not causing disease	M
1979	Tero Ylisaukko-oja, ... Pubmed: 15578581	c.[378-61C>G; *93G>A]	intronic variation and 3'UTR variation	Intronic variation, 3'UTR variation	Intronic, 3'UTR	Not Rett synd. - Sporadic mental retardation	Unknown	M
2002	Konrad Oexle, ...	c.[992_994delAGA; 1029delG; 1061G>T; 1167_1200del34]	p.[K331del; R344fs]	In-frame insertion or deletion, frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
2025	Directly submitted	c.[397C>T(;)1061G>T]	p.[R133C(;)R354L]	Missense	MBD, C-term	Not known	Mutation associated with disease	F
2029	Directly submitted	c.[377+22C>G; 378-74C>T]	intronic variation	Intronic variation	Intronic	Not known	Polymorphism not causing disease	F
2041	Directly submitted	c.[880C>T(;)*9G>A]	p.R294X, 3'UTR variation	Nonsense, 3'UTR variation	TRD, 3'UTR	Not known	Mutation associated with disease	F
2045	Directly submitted	c.[377+22C>G(;)378-74C>T]	intronic variation	Intronic variation	Intronic	Not known	Polymorphism not causing disease	F
2053	Directly submitted	c.[378-74C>T;602C>T];[378-74C>T]	p.[A201V];[=]	Intronic variation, missense	Intronic, inter-domain region	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
2055	Directly submitted	c.[1189G>A(;)*55C>G]	p.E397K, 3'UTR variation	Missense, 3'UTR variation	C-term, 3'UTR	Not known	Polymorphism not causing disease	F
2070	Cardiff, ...	complex rearrangement	complex rearrangement	Not known	Not known	Rett syndrome - Classical	Unknown	F
2083	Cardiff, ...	c.(378_1461)_(378_1461)del	p.(N126+S486)fs	Frameshift insertion or deletion	Not known	Rett syndrome - Classical	Mutation associated with disease	F
2084	Cardiff, ...	c.(378_1461)_(378_1461)del	p.(N126+S486)fs	Frameshift insertion or deletion	Not known	Rett syndrome - Classical	Mutation associated with disease	F
2085	Cardiff, ...	c.(378_1461)_(378_1461)del	p.(N126+S486)fs	Frameshift insertion or deletion	Not known	Rett syndrome - Atypical	Mutation associated with disease	F
2086	Cardiff, ...	c.(378_1461)_(378_1461)del	p.(N126+S486)fs	Frameshift insertion or deletion	Not known	Rett syndrome - Classical	Mutation associated with disease	F
2087	Cardiff, ...	c.(378_1461)_(378_1461)del	p.(N126+S486)fs	Frameshift insertion or deletion	Not known	Rett syndrome - Not certain	Mutation associated with disease	F
2118	Cardiff, ...	c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Not known	Polymorphism not causing disease	F
2119	Cardiff, ...	c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
2120	Cardiff, ...	c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Not known	Polymorphism not causing disease	F
2121	Cardiff, ...	c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
2206	Cardiff, ...	c.[316C>T(;)917G>T(;)1061G>A]	p.[R106W(;)R306L(;)R354H]	Missense	MBD, TRD, C-term	Rett syndrome - Not certain	Mutation associated with disease	F
2225	Cardiff, ...	c.[397C>T; 1164_1207del44]	p.[R133C; P389X]	Missense, frameshift insertion or deletion	MBD, C-term	Rett syndrome - Atypical	Mutation associated with disease	F
2246	Cardiff, ...	c.[502C>T(;)897C>T]	p.[R168X(;)T299T]	Nonsense, silent	Inter-domain region, TRD	Rett syndrome - Classical	Mutation associated with disease	F
2337	Cardiff, ...	Not known	p.S373X	Nonsense	C-term	Rett syndrome - Atypical	Mutation associated with disease	F
2370	Akane Shibayama, ... Pubmed: 15211631	c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - ADHD	Polymorphism not causing disease	M
2371	Akane Shibayama, ... Pubmed: 15211631	c.*177G>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - autism only	Unknown	F
2372	Akane Shibayama, ... Pubmed: 15211631	c.*177G>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Unaffected family member	Unknown	F
2373	Akane Shibayama, ... Pubmed: 15211631	c.*5348T>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - autism only	Unknown	M
2374	Akane Shibayama, ... Pubmed: 15211631	c.*5348T>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Unaffected family member	Unknown	F
2390	Michele Zappella, ... Pubmed: 12707946	c.[1202G>A];[1202G>A]	p.[S401N];[S401N]	Missense	C-term	Not Rett synd. - autism only	Polymorphism not causing disease	F
2453	Directly submitted	c.[763C>T(;)1233C>T]	p.[R255X(;)S411S]	Nonsense, silent	TRD, C-term	Rett syndrome - Classical	Mutation associated with disease	F
2455	Directly submitted	c.[502C>T(;)750C>A]	p.[R168X(;)R250R]	Nonsense, silent	Inter-domain region, TRD	Rett syndrome - Classical	Mutation associated with disease	F
2460	Directly submitted	c.[710G>T(;)763C>T]	p.[G237V(;)R255X]	missense, nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2494	Tjitske Kleefstra, ... Pubmed: 14560307	c.*36G>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Angelman syndrome	Polymorphism not causing disease	F
2499	D Bartholdi, ... Pubmed: 16630165	c.(378_1461)_(378_1461)del	p.(N126+S486)fs	Frameshift insertion or deletion	Not known	Rett syndrome - Atypical	Mutation associated with disease	F
2527	Tejada M-I, ... Pubmed: 16879196	c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Sporadic mental retardation	Polymorphism not causing disease	F
2528	Tejada M-I, ... Pubmed: 16879196	c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Sporadic mental retardation	Polymorphism not causing disease	F
2544	Matijevic, ... Pubmed: 17341617	c.[1132_1159del28;1167_1176del10];[1132_1159del28;1167_1176del10]	p.[A378fs];[A378fs]	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
2545	Matijevic, ... Pubmed: 17341617	c.[1148_1177del30];[1148_1177del30]	p.[L383_E392del];[L383_E392del]	inframe insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
2621	Zahorakova, ... Pubmed: 17387578	c.[1063_1188del126; 1189_1231inv; 1232_1236del5]	p.S355fs	frameshift insertion or deletion	c-term	Rett syndrome - Classical	Mutation associated with disease	F
2638	Zahorakova, ... Pubmed: 17387578	c.*92C>T	3'UTR variation	3'UTR variation	3'UTR	Rett syndrome - Classical	Polymorphism not causing disease	F
2639	Zahorakova, ... Pubmed: 17387578	c.*328G>A	3'UTR variation	3'UTR variation	3'UTR	Rett syndrome - Classical	Polymorphism not causing disease	F
2640	Zahorakova, ... Pubmed: 17387578	c.*328G>A	3'UTR variation	3'UTR variation	3'UTR	Rett syndrome - Classical	Polymorphism not causing disease	F
2641	Zahorakova, ... Pubmed: 17387578	c.*359G>C	3'UTR variation	3'UTR variation	3'UTR	Rett syndrome - Classical	Polymorphism not causing disease	F
2643	Zahorakova, ... Pubmed: 17387578	c.*363G>C	3'UTR variation	3'UTR variation	3'UTR	Rett syndrome - Classical	Polymorphism not causing disease	F
2674	Coutinho, ... Pubmed: 17427193	c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2675	Coutinho, ... Pubmed: 17427193	c.*93G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2676	Coutinho, ... Pubmed: 17427193	c.*204G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Unknown	M
2677	Coutinho, ... Pubmed: 17427193	c.*371G>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Unknown	M
2678	Coutinho, ... Pubmed: 17427193	c.*544G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Unknown	U
2679	Coutinho, ... Pubmed: 17427193	c.*554G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Unknown	M
2680	Coutinho, ... Pubmed: 17427193	c.*767G>T	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Unknown	U
2681	Coutinho, ... Pubmed: 17427193	c.*861T>G	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Unknown	M
2682	Coutinho, ... Pubmed: 17427193	c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2683	Coutinho, ... Pubmed: 17427193	c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2684	Coutinho, ... Pubmed: 17427193	c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2685	Coutinho, ... Pubmed: 17427193	c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2686	Coutinho, ... Pubmed: 17427193	c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2687	Coutinho, ... Pubmed: 17427193	c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2688	Coutinho, ... Pubmed: 17427193	c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2689	Coutinho, ... Pubmed: 17427193	c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2690	Coutinho, ... Pubmed: 17427193	c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2691	Coutinho, ... Pubmed: 17427193	c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2692	Coutinho, ... Pubmed: 17427193	c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2693	Coutinho, ... Pubmed: 17427193	c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2694	Coutinho, ... Pubmed: 17427193	c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2695	Coutinho, ... Pubmed: 17427193	c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2696	Coutinho, ... Pubmed: 17427193	c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2697	Coutinho, ... Pubmed: 17427193	c.*1368C>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Unknown	M
2698	Coutinho, ... Pubmed: 17427193	c.*1737G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2699	Coutinho, ... Pubmed: 17427193	c.*1737G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2700	Coutinho, ... Pubmed: 17427193	c.*1737G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2701	Coutinho, ... Pubmed: 17427193	c.*1737G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2702	Coutinho, ... Pubmed: 17427193	c.*1737G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2703	Coutinho, ... Pubmed: 17427193	c.*1737G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2704	Coutinho, ... Pubmed: 17427193	c.*1737G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2705	Coutinho, ... Pubmed: 17427193	c.*1737G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2706	Coutinho, ... Pubmed: 17427193	c.*2556T>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Unknown	M
2707	Coutinho, ... Pubmed: 17427193	c.*2657G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Unknown	U
2708	Coutinho, ... Pubmed: 17427193	c.*2706G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Unknown	F
2709	Coutinho, ... Pubmed: 17427193	c.*2956G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Unknown	M
2710	Coutinho, ... Pubmed: 17427193	c.*3477G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2711	Coutinho, ... Pubmed: 17427193	c.*3477G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2712	Coutinho, ... Pubmed: 17427193	c.*3658C>T	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Unknown	U
2713	Coutinho, ... Pubmed: 17427193	c.*3878G>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2714	Coutinho, ... Pubmed: 17427193	c.*4576A>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2715	Coutinho, ... Pubmed: 17427193	c.5486_5487dupAT	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2716	Coutinho, ... Pubmed: 17427193	c.*7748C>T	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2717	Coutinho, ... Pubmed: 17427193	c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2718	Coutinho, ... Pubmed: 17427193	c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2719	Coutinho, ... Pubmed: 17427193	c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2720	Coutinho, ... Pubmed: 17427193	c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2721	Coutinho, ... Pubmed: 17427193	c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2722	Coutinho, ... Pubmed: 17427193	c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2723	Coutinho, ... Pubmed: 17427193	c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2724	Coutinho, ... Pubmed: 17427193	c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2725	Coutinho, ... Pubmed: 17427193	c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2726	Coutinho, ... Pubmed: 17427193	c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2727	Coutinho, ... Pubmed: 17427193	c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2728	Coutinho, ... Pubmed: 17427193	c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2729	Coutinho, ... Pubmed: 17427193	c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2730	Coutinho, ... Pubmed: 17427193	c.*8503delC	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2731	Coutinho, ... Pubmed: 17427193	c.*8503delC	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2732	Coutinho, ... Pubmed: 17427193	c.*8503delC	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2733	Coutinho, ... Pubmed: 17427193	c.*8503delC	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2734	Coutinho, ... Pubmed: 17427193	c.*8503delC	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Autism	Polymorphism not causing disease	U
2735	Coutinho, ... Pubmed: 17427193	c.*393G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Non-Rett syndrome control	Polymorphism not causing disease	U
2736	Coutinho, ... Pubmed: 17427193	c.*489G>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Non-Rett syndrome control	Polymorphism not causing disease	U
2737	Coutinho, ... Pubmed: 17427193	c.*529G>T	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Non-Rett syndrome control	Polymorphism not causing disease	U
2738	Coutinho, ... Pubmed: 17427193	c.*806G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Non-Rett syndrome control	Polymorphism not causing disease	U
2739	Coutinho, ... Pubmed: 17427193	c.*831G>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Non-Rett syndrome control	Polymorphism not causing disease	U
2740	Coutinho, ... Pubmed: 17427193	c.*875dupA	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Non-Rett syndrome control	Polymorphism not causing disease	U
2741	Coutinho, ... Pubmed: 17427193	c.*1237T>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Non-Rett syndrome control	Polymorphism not causing disease	U
2742	Coutinho, ... Pubmed: 17427193	c.*3662A>G	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Non-Rett syndrome control	Polymorphism not causing disease	U
2743	Coutinho, ... Pubmed: 17427193	c.4086_4087delGT	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Non-Rett syndrome control	Polymorphism not causing disease	U
2744	Coutinho, ... Pubmed: 17427193	c.*5839C>T	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - Non-Rett syndrome control	Polymorphism not causing disease	U
2811	Kim, ... Pubmed: 16672765	c.[26+22C>G(;)468C>G]	intronic variation, p.D156E	missense	MBD	Rett syndrome - classical	Unknown	F
2814	Kim, ... Pubmed: 16672765	c.[426C>T(;)916C>T]	p.[F142F(;)R306C]	silent, missense	MBD, TRD	Rett syndrome - classical	Mutation associated with disease	F
2820	Kim, ... Pubmed: 16672765	c.[502C>T(;)1326C>T]	p.[R168X(;)T442T]	nonsense, silent	inter-domain region, C-term	Rett syndrome - classical	Mutation associated with disease	F
2823	Kim, ... Pubmed: 16672765	c.[26+22C>G(;) 808C>T]	p.R270X	intronic variation, nonsense	intronic, TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
2825	Kim, ... Pubmed: 16672765	c.[808C>T(;) 1326C>T]	p.[R270X(;) T442T]	nonsense, silent	TRD-NLS, C-term	Rett syndrome - classical	Mutation associated with disease	F
2831	Kim, ... Pubmed: 16672765	c.[26+22C>G(;) 808C>T]	p.R270X	intronic variation, nonsense	intronic variation, TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
2906	Schollen, ... Pubmed: 12872251	c.[27-5690_1208del7628ins42];[439G>A]	p.[R9fs];[D147N]	frameshift combined insertion and deletion, missense	N-term, MBD	Rett syndrome - classical	Mutation associated with disease	F
2993	Chae, ... Pubmed: 15526954	c.[834C>T(;) 965C>T]	p.[A278A(;) P322L]	silent, missense	TRD, C-term	Rett syndrome - classical	Unknown	F
3010	Pan, ... Pubmed: 12111643	c.[1158_1167del10; 1173_1188del16]	p.P387HfsX9	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
3021	Yntema HG, ... Pubmed: 12111644	c.[528C>G; 897C>T]	p.[P176P; T299T]	silent	inter-domain region	Not Rett synd. - mental retardation	Silent polymorphism	M
3048	Yaron Y, ... Pubmed: 12325033	c.[1451G>C];[*98dupA]	p.[R484T];[=]	missense, 3'UTR	C-term, 3'UTR	Rett syndrome - classical	Polymorphism not causing disease	F
3049	Yaron Y, ... Pubmed: 12325033	c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Rett syndrome - classical	Polymorphism not causing disease	F
3082	Karall, ... Pubmed: 17881312	c.[=/473C>T];[473C>T]	p.[=/T158M];[T158M]	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3288	Philippe C, ... Pubmed: 16473305	c.[1105_1116del12; 1152_1195del44]	p.[H369_H372del; P385fs]	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3295	Philippe C, ... Pubmed: 16473305	c.[1159_1174del16; 1205_1432del228]	p.P387fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3321	Philippe C, ... Pubmed: 16473305	c.[1197_1237inv; 1238_1266del]	p.T400fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3323	Philippe C, ... Pubmed: 16473305	c.[1317_623delins22; 796_*822del]	p.A439fs	frameshift combined insertion and deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3341	Laccone, ... Pubmed: 14974082	c.[1004_1037del; 1051_1054del; 1059_1072del; 1161_*2598del]	p.G335fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3346	Laccone, ... Pubmed: 14974082	c.[945_1025conNM_004992.3:c.1196_1252; 1136_*8554+2526del]	p.V316fs	frameshift insertion or deletion	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3347	Laccone, ... Pubmed: 14974082	c.[27-5862_1132del; 1157_1197del]	p.R9fs	frameshift insertion or deletion	N-term	Rett syndrome - not certain	Mutation associated with disease	F
3348	Laccone, ... Pubmed: 14974082	c.[27-5944_1132del; 1157_1197del]	p.R9fs	frameshift insertion or deletion	N-term	Rett syndrome - not certain	Mutation associated with disease	F
3356	Lee SSJ, ... Pubmed: 11738860	c.[1129_1133delAAGGCinsGAGT; 1155_1200del46]	p.K377fs	frameshift combined insertion and deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3413	Lebo RV, ... Pubmed: 11453972	c.[1043_1056del14; 1061_1074del14; 1104_1106del3; 1138_1163del26; 1178_1185del8]	p.E348fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3414	Lebo RV, ... Pubmed: 11453972	c.[1051_1065del15; 1088_1115del28; 1138_1207del70]	p.[P351_S355del; K363fs]	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3518	Bienvenu T, ... Pubmed: 12180070	c.[641_653del13; 711_1309del599]	p.E214_Q437delinsGSSLSRCLFKLRQGARLRGE	in-frame insertion or deletion	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3527	Li, ... Pubmed: 17089071	c.[380C>T];[380C>T]	p.[P127L];[P127L]	missense	MBD	Rett syndrome - not certain	Unknown	F
3542	Li, ... Pubmed: 17089071	c.[473C>T];[473C>T]	p.[T158M];[T158M]	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3794	Inui, ... Pubmed: 11376998	c.[397C>T; 602C>T]	p.[R133C; A201V]	missense	MBD, inter-domain region	Rett syndrome - male variant	Mutation associated with disease	M
3852	Bunyan, ... Pubmed: 18652533	c.[343C>T(;)1075_1178del104]	p.[R115C(;)S359fs]	missense, frameshift insertion or deletion	MBD, C-term	Rett syndrome - classical	Mutation associated with disease	F
3853	Bunyan, ... Pubmed: 18652533	c.[502C>T; 1136_1142del7]	p.R168X	nonsense, frameshift insertion or deletion	MBD, C-term	Rett syndrome - not certain	Mutation associated with disease	F
3854	Bunyan, ... Pubmed: 18652533	c.[27-?_377+?del(;)1085_1216del132]	p.[R9_N126delinsS(;) P362_P405del]	large deletion, inframe insertion or deletion	MBD, C-term	Rett syndrome - classical	Mutation associated with disease	F
3855	Bunyan, ... Pubmed: 18652533	c.[27-?_1000+?dup(;)1100_1188del89]	p.[?(;)H367fs]	complex rearrangement, frameshift insertion or deletion	MBD, C-term	Rett syndrome - classical	Mutation associated with disease	F
3858	Santos, ... Pubmed: 18688080	c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Rett syndrome - atypical	Polymorphism not causing disease	F
3859	Santos, ... Pubmed: 18688080	c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - mental retardation and autism	Polymorphism not causing disease	F
3860	Santos, ... Pubmed: 18688080	c.*1134G>A	3'UTR variation	3'UTR variation	3'UTR	Rett syndrome - congenital	Polymorphism not causing disease	F
3861	Santos, ... Pubmed: 18688080	c.[8500C>G];[8503delC]	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - mental retardation	Polymorphism not causing disease	F
3862	Santos, ... Pubmed: 18688080	c.*8500C>G	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
3863	Santos, ... Pubmed: 18688080	c.*8503delC	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
3874	Rosser, ... Pubmed: 18810657	c.[1155_1172del18; 1373G>A]	p.[L386_P391del; R458H]	in-frame insertion or deletion, missense	c-term	Rett syndrome - not certain	Unknown	F
3875	Rosser, ... Pubmed: 18810657	c.[1373G>A; 1448_*29del43]	p.[R458H; E483fs]	frameshift insertion or deletion, missense	c-term	Rett syndrome - not certain	Mutation associated with disease	F
3910	Khajuria, ...	c.[455C>G(;)683C>G]	p.[P152R(;)T228S]	missense	MBD, TRD	Rett syndrome - classical	Mutation associated with disease	F
3978	Zahorakova, ... Pubmed: 17387578	c.*328G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
3979	Zahorakova, ... Pubmed: 17387578	c.*328G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
3988	Evans, ... Pubmed: 16965328	c.[=/808delC]	p.[=/R270fs]	frameshift insertion or deletion	TRD-NLS	Not Rett synd. - unaffected family member	Mutation associated with disease	M
4000	Coutinho, ... Pubmed: 17427193	c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4001	Coutinho, ... Pubmed: 17427193	c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4002	Coutinho, ... Pubmed: 17427193	c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4003	Coutinho, ... Pubmed: 17427193	c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4004	Coutinho, ... Pubmed: 17427193	c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4005	Coutinho, ... Pubmed: 17427193	c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4006	Coutinho, ... Pubmed: 17427193	c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4007	Coutinho, ... Pubmed: 17427193	c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4008	Coutinho, ... Pubmed: 17427193	c.*1737G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4009	Coutinho, ... Pubmed: 17427193	c.*1737G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4010	Coutinho, ... Pubmed: 17427193	c.*1737G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4011	Coutinho, ... Pubmed: 17427193	c.*1737G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4012	Coutinho, ... Pubmed: 17427193	c.*1737G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4013	Coutinho, ... Pubmed: 17427193	c.*3477G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4014	Coutinho, ... Pubmed: 17427193	c.*3477G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4015	Coutinho, ... Pubmed: 17427193	c.*3477G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4016	Coutinho, ... Pubmed: 17427193	c.*3878G>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4017	Coutinho, ... Pubmed: 17427193	c.*4576A>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4018	Coutinho, ... Pubmed: 17427193	c.*4576A>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4019	Coutinho, ... Pubmed: 17427193	c.5486_5487dupAT	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4020	Coutinho, ... Pubmed: 17427193	c.*7748C>T	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4021	Coutinho, ... Pubmed: 17427193	c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4022	Coutinho, ... Pubmed: 17427193	c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4023	Coutinho, ... Pubmed: 17427193	c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4024	Coutinho, ... Pubmed: 17427193	c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4025	Coutinho, ... Pubmed: 17427193	c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4026	Coutinho, ... Pubmed: 17427193	c.*8503delC	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4027	Coutinho, ... Pubmed: 17427193	c.*8503delC	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4028	Coutinho, ... Pubmed: 17427193	c.*8503delC	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4029	Coutinho, ... Pubmed: 17427193	c.*8503delC	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4030	Coutinho, ... Pubmed: 17427193	c.*8503delC	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4031	Coutinho, ... Pubmed: 17427193	c.*8503dupC	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4032	Coutinho, ... Pubmed: 17427193	c.*8503dupC	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4043	Santos, ... Pubmed: 18688080	c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
4048	Yaron Y, ... Pubmed: 12325033	c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
4049	Yaron Y, ... Pubmed: 12325033	c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
4198	Maiwald, ... Pubmed: 12481990	c.[1363G>T];[=]	p.[E455X];[=]	nonsense	C-term	Rett syndrome - male variant	Mutation associated with disease	M
4201	Lobo-Menendez, ... Pubmed: 12555243	c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - autism	Polymorphism not causing disease	U
4202	Lobo-Menendez, ... Pubmed: 12555243	c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
4203	Lobo-Menendez, ... Pubmed: 12555243	c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - normal control	Polymorphism not causing disease	M
4204	Lobo-Menendez, ... Pubmed: 12555243	c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - normal control	Polymorphism not causing disease	M
4205	Lobo-Menendez, ... Pubmed: 12555243	c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - normal control	Polymorphism not causing disease	M
4206	Lobo-Menendez, ... Pubmed: 12555243	c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - normal control	Polymorphism not causing disease	M
4207	Lobo-Menendez, ... Pubmed: 12555243	c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - normal control	Polymorphism not causing disease	M
4208	Lobo-Menendez, ... Pubmed: 12555243	c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - normal control	Polymorphism not causing disease	M
4209	Lobo-Menendez, ... Pubmed: 12555243	c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - normal control	Polymorphism not causing disease	M
4210	Lobo-Menendez, ... Pubmed: 12555243	c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - normal control	Polymorphism not causing disease	M
4211	Lobo-Menendez, ... Pubmed: 12555243	c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - normal control	Polymorphism not causing disease	M
4212	Lobo-Menendez, ... Pubmed: 12555243	c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - normal control	Polymorphism not causing disease	M
4213	Lobo-Menendez, ... Pubmed: 12555243	c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - normal control	Polymorphism not causing disease	M
4214	Lobo-Menendez, ... Pubmed: 12555243	c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - normal control	Polymorphism not causing disease	M
4215	Lobo-Menendez, ... Pubmed: 12555243	c.*55C>G	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - autism	Polymorphism not causing disease	U
4216	Lobo-Menendez, ... Pubmed: 12555243	c.*55C>G	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
4217	Lobo-Menendez, ... Pubmed: 12555243	c.*55C>G	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - normal control	Polymorphism not causing disease	M
4218	Psoni, ... Pubmed: 20098342	c.[=/316C>T]	p.[=/R106W]	missense	MBD	Rett syndrome - male variant	Mutation associated with disease	M
4226	de Lima, ... Pubmed: 19722030	c.[316C>T(;)1233C>T]	p.[R106W(;)S411S]	missense, silent	MBD, C-term	Rett syndrome - Classical	Mutation associated with disease	F
4230	de Lima, ... Pubmed: 19722030	c.[334A>T(;)871T>G]	p.[K112X(;)S291A]	nonsense, missense	MBD, TRD	Rett syndrome - Classical	Mutation associated with disease	F
4241	de Lima, ... Pubmed: 19722030	c.[473C>T(;)590C>T]	p.[T158M(;)T197M]	missense	MBD, inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
4242	de Lima, ... Pubmed: 19722030	c.[473C>T(;)1233C>T]	p.[T158M(;)S411S]	missense, silent	MBD, C-term	Rett syndrome - Classical	Mutation associated with disease	F
4243	de Lima, ... Pubmed: 19722030	c.[473C>T(;)1335G>A]	p.[T158M(;)T445T]	missense, silent	MBD, C-term	Rett syndrome - Classical	Mutation associated with disease	F
4244	de Lima, ... Pubmed: 19722030	not certain	p.F157L	missense	MBD	Rett syndrome - Classical	Unknown	F
4249	de Lima, ... Pubmed: 19722030	c.[397C>T(;)1233C>T]	p.[R133C(;)S411S]	missense, silent	MBD, C-term	Rett syndrome - Atypical	Mutation associated with disease	F
4250	de Lima, ... Pubmed: 19722030	c.[398G>T(;)602C>T]	p.[R133L(;)A201V]	missense	MBD, inter-domain region	Rett syndrome - Classical	Unknown	F
4285	de Lima, ... Pubmed: 19722030	c.[590C>T(;)916C>T]	p.[T197M(;)R306C]	missense	inter-domain region, TRD	Rett syndrome - Classical	Mutation associated with disease	F
4286	de Lima, ... Pubmed: 19722030	c.[916C>T(;)1233C>T]	p.[R306C(;)S411S]	missense, silent	TRD, C-term	Rett syndrome - Classical	Mutation associated with disease	F
4288	de Lima, ... Pubmed: 19722030	c.[1233C>T(;)1460G>T]	p.[S411S(;)X487LextX27]	silent, non-stop	C-term	Rett syndrome - Classical	Unknown	F
4299	Fendri-Kriaa, ... Pubmed: 20631224	c.[916C>T(;)*98dupA]	p.R306C, 3'UTR variation	missense, 3'UTR variation	TRD, 3'UTR	Rett syndrome - classical	Mutation associated with disease	F
4300	Fendri-Kriaa, ... Pubmed: 20631224	c.*92C>G	3'UTR variation	3'UTR variation	3'UTR	Rett syndrome - classical	Unknown	F
4334	Monnerat, ... Pubmed: 20031356	c.[377+28A>G(;)1014C>T]	intronic variation, p.T338T	intronic variation, silent	intronic, C-term	Rett syndrome - Classical	Silent polymorphism	F
4335	Monnerat, ... Pubmed: 20031356	p.[378-17delT]; [1161_1169del9;1178C>T; 1181_1191del11; 1233C>T]	p.[P389_P391del;P393L;E394fs];[=]	intronic variation, in-frame insertion or deletion, missense, frameshift insertion or deletion	intronic, C-term	Rett syndrome - Classical	Mutation associated with disease	F
4336	Monnerat, ... Pubmed: 20031356	c.[378-74C>T(;)473C>T]	intronic variation, p.T158M	intronic variation, missense	intronic, MBD	Rett syndrome - Atypical	Mutation associated with disease	F
4337	Monnerat, ... Pubmed: 20031356	c.[378-74C>T];[378-74C>T]	intronic variation	intronic variation	intronic	Rett syndrome - Classical	Polymorphism not causing disease	F
4338	Monnerat, ... Pubmed: 20031356	c.[426C>T(;)608C>T]	p.[F142F(;)T203M]	silent, missense	MBD, inter-domain region	Rett syndrome - Atypical	Polymorphism not causing disease	F
4339	Monnerat, ... Pubmed: 20031356	c.[455C>G(;)582C>T]	p.[P152R(;)S194S]	missense, silent	MBD, inter-domain region	Rett syndrome - Atypical	Mutation associated with disease	F
4340	Monnerat, ... Pubmed: 20031356	c.[473C>T(;)*14G>A]	p.T158M, 3'UTR variation	missense, 3'UTR variation	MBD, 3'UTR	Rett syndrome - Atypical	Mutation associated with disease	F
4341	Monnerat, ... Pubmed: 20031356	c.[763C>T(;)1133C>G]	p.[R255X(;)A378G]	nonsense, missense	TRD, C-term	Rett syndrome - Classical	Mutation associated with disease	F
4342	Monnerat, ... Pubmed: 20031356	c.[880C>T(;)1233C>T]	p.[R294X(;)S411S]	nonsense, silent	TRD, C-term	Rett syndrome - Classical	Mutation associated with disease	F
4397	Khajuria, ...	c.[834C>T(;) 856_859delAAAG(;) 1180G>A]	p.[A278A(;) K286fs(;) E394K]	silent, frameshift insertion or deletion, missense	TRD, C-term	Rett syndrome - classical	Mutation associated with disease	F
4408	Khajuria, ...	c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - sporadic mental retardation	Polymorphism not causing disease	F
4409	Khajuria, ...	c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - non Rett syndrome control	Polymorphism not causing disease	F
4595	Rajaei, ... Pubmed: 21212452	c.[1035A>G(;)1233C>T]	p.[K345K(;)S411S]	silent	C-term	Rett syndrome - congenital	Silent polymorphism	F
4671	Pieras, ... Pubmed: 20970936	c.[=/360T>G]	p.[=/Y120X]	nonsense	MBD	Rett syndrome - atypical	Mutation associated with disease	M
4708	Hadzsiev, ... Pubmed: 21160487	c.[1121_1311del191; 1326_1334del9]	p.E374fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
4713	Hadzsiev, ... Pubmed: 21160487	c.[276_277insG(;) 1162_1179del18]	p.[P94fs(;) P388_P393del]	frameshift insertion or deletion, in-frame insertion or deletion	MBD, C-term	Rett syndrome - not certain	Mutation associated with disease	F
4736	Hadzsiev, ... Pubmed: 21160487	c.[397C>T(;) 582C>T]	p.[R133C(;) S194S]	missense, silent	MBD, inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
4795	Fendri-Kriaa, ... Pubmed: 21575601	c.[535C>T(;) 763C>T]	p.[P179S(;) R255X]	missense, nonsense	inter-domain region, TRD	Rett syndrome - classical	Unknown	F
4805	Lee, ... Pubmed: 21325263	c.[602C>T(;) 1157_1197del41]	p.[A201V(;) L386fs]	frameshift insertion or deletion	C-term	Rett syndrome - atypical	Mutation associated with disease	F
4807	Mittal, ... Pubmed: 21812101	c.[=/657-?_1316+?del]	p.[=/?]	in-frame insertion or deletion	TRD	Rett syndrome - male variant	Mutation associated with disease	M
4844	Psoni, ... Pubmed: 21982064	c.[426C>T(;) 502C>T]	p.[F142F(;) R168X]	nonsense, silent	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
4853	Psoni, ... Pubmed: 21982064	c.[1112_1116del; 1116_1137inv; 1138_1152del15ins7]	p.H371GfsX7	frameshift combined insertion and deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
4902	Fendri-Kriaa, ... Pubmed: 22561697	c.[1077_1079delCTC(;) 1142C>T(;) 1157_1200del44]	p.[S360del(;) P381L(;) L386fs]	frameshift insertion or deletion, missense	C-term	Rett syndrome - classical	Mutation associated with disease	F
4905	Kim, ... Pubmed: 22476991	not certain	p.F157L	missense	MBD	Rett syndrome - not certain	Unknown	F
4933	Todorov, ... Pubmed: 22525432	c.[584_624del41insTT; 638delTinsCA]	p.[G195_Q208delinsV; L213Pfs*23]	frameshift combined insertion and deletion	inter-domain region, TRD	Rett syndrome - classical	Mutation associated with disease	F
5134	Maortua, ... Pubmed: 23810759	c.[1123_1189del;1249_1270del]	p.S375Rfs*12	frameshift insertion or deletion	C-term	Rett syndrome - atypical	Mutation associated with disease	F
5140	Maortua, ... Pubmed: 23810759	c.[184-?_1065+?del; 5338_5361+?del]	p.?	exonic deletions	C-term	Rett syndrome - classical	Mutation associated with disease	F
5226	Maortua, ... Pubmed: 23810759	c.*14G>A	3'UTR variation	3'UTR variation	3'UTR	Rett syndrome - not certain	Unknown	F
5227	Maortua, ... Pubmed: 23810759	c.*93G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - normal control	Polymorphism not causing disease	U
5228	Maortua, ... Pubmed: 23810759	c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Rett syndrome - not certain	Polymorphism not causing disease	F
5229	Maortua, ... Pubmed: 23810759	c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Rett syndrome - not certain	Polymorphism not causing disease	F
5230	Maortua, ... Pubmed: 23810759	c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - normal control	Polymorphism not causing disease	F
5231	Maortua, ... Pubmed: 23810759	c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - normal control	Polymorphism not causing disease	F
5232	Maortua, ... Pubmed: 23810759	c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - normal control	Polymorphism not causing disease	F
5235	Chapleau, ... Pubmed: 23696494	c.[502C>T;1180G>A];[832G>A]	p.[R168X];[A278T]	nonsense, missense	inter-domain region, TRD, C-term	Rett syndrome - not certain	Mutation associated with disease	F
5238	Chapleau, ... Pubmed: 23696494	c.[678delT];[378-109A>G;518C>G]	p.[Q227Kfs*21];[P173R]	frameshift insertion or deletion, intronic variation, missense	TRD, intronic, inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
5239	Chapleau, ... Pubmed: 23696494	c.[378-109A>G;518C>G]	p.P173R	intronic variation, missense	intronic, inter-domain region	Not Rett synd. - unaffected family member	Unknown	F
5240	Chapleau, ... Pubmed: 23696494	c.[905C>T;917G>A]	p.[P302L;R306H]	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
5242	Chapleau, ... Pubmed: 23696494	c.[502C>T;880C>T]	p.R168X	nonsense	inter-domain region, TRD	Rett syndrome - not certain	Mutation associated with disease	F
5243	Chapleau, ... Pubmed: 23696494	c.[203C>G;1094_1138del45]	p.S68X	nonsense, in-frame insertion or deletion	N-term, C-term	Rett syndrome - not certain	Mutation associated with disease	F
5244	Chapleau, ... Pubmed: 23696494	c.[1104_1106del3;1157_1197del41]	p.[H372del;L386fs]	in-frame insertion or deletion, frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
5245	Chapleau, ... Pubmed: 23696494	c.[1089_1129del41;1156_1197del42]	p.Lys364Glyfs*13	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
5246	Chapleau, ... Pubmed: 23696494	c.[1024_1025insAG;1029delG;1155_1209del55]	p.Pro342_Pro403delins44	combined in-frame insertion and deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
5247	Chapleau, ... Pubmed: 23696494	c.[1137C>T;1157_1200del44]	p.[P379P;L386fs]	silent, frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
5248	Chapleau, ... Pubmed: 23696494	c.[488_995del508;1061_1062delGC;1229_1240del12]	p.Gly163Alafs*5	in-frame insertion or deletion, frameshift insertion or deletion	inter-domain region, TRD, C-term	Rett syndrome - not certain	Mutation associated with disease	F
5249	Chapleau, ... Pubmed: 23696494	c.[401C>G;1168_1173del6]	p.[S134C;P390_P391del]	missense, in-frame insertion or deletion	MBD, C-term	Rett syndrome - not certain	Mutation associated with disease	F
6875	Daniela�Zahorakova, ... Pubmed: 26984561	c.*156G>T	Intronic variation	3' UTR variation	3' UTR	Not Rett synd. - mental retardation	Polymorphism not causing disease	F
6874	Daniela�Zahorakova, ... Pubmed: 26984561	c.*92C>T	Intronic variation	3' UTR variation	3' UTR	Not Rett synd. - mental retardation	Polymorphism not causing disease	F
6873	Daniela�Zahorakova, ... Pubmed: 26984561	c.*9G>A	Intronic variation	3' UTR variation	3' UTR	Not Rett synd. - mental retardation	Polymorphism not causing disease	F
6676	Directly submitted	c.[1104_1106del3(;) 1157_1197del41]	p.[H372del(;) L386fs]	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
6675	Directly submitted	c.[1161_1166del6; 1180_1205del26]	p.[P390_P391del; E394fs]	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
6666	Directly submitted	c.*14G>A	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - unaffected family member	Unknown	F
6665	Directly submitted	c.*14G>A	3'UTR variation	3'UTR variation	3'UTR	Rett syndrome - forme fruste	Unknown	F
6621	Directly submitted	c.[502C>T; 880C>T]	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6613	Directly submitted	c.[401C>G; 1168_1173del6]	p.[S134C; P390_P391del]	missense, in-frame insertion or deletion	MBD, C-term	Rett syndrome - classical	Mutation associated with disease	F
6611	Directly submitted	c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Rett syndrome - classical	Polymorphism not causing disease	F
6589	Directly submitted	c.[518C>G(;)678delT]	p.[P173R(;)Q227fs]	missense	inter-domain, TRD	Rett syndrome - classical	Mutation associated with disease	F
6347	Directly submitted	c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
6346	Directly submitted	c.[964C>G(;)*98dupA]	p.P322A	missense, 3'UTR variation	C-term	Rett syndrome - classical	Unknown	F
6998	Qingping Zhang, ... Pubmed: 28394482	c.[1164_1207 del(;)1231_1233delAGC ]		nonsense,frameshift insertion or deletion	C-term	Not Rett synd. - x-linked mental retardation	Mutation associated with disease	M
2907	Erlandson, ... Pubmed: 15000811	c.1-?_26+?del (Deletion of exons 1 and 2)	p.M1?	frameshift insertion of deletion	N-term	Rett syndrome - classical	Mutation associated with disease	F
2913	Evans, ... Pubmed: 15367913	AY523575.1:g.1029dupC	5'UTR variation	5'UTR variation	5'UTR	Rett syndrome - classcial	Polymorphism not causing disease	F
2914	Evans, ... Pubmed: 15367913	AY523575.1:g.1029dupC	5'UTR variation	5'UTR variation	5'UTR	Rett syndrome - atypical	Polymorphism not causing disease	F
2915	Evans, ... Pubmed: 15367913	AY523575.1:g.1029dupC	5'UTR variation	5'UTR variation	5'UTR	Rett syndrome - atypical	Polymorphism not causing disease	F
3253	Philippe C, ... Pubmed: 16473305	c.1-?dup	p.M1?	large duplication	N-term	Rett syndrome - not certain	Unknown	F
3254	Philippe C, ... Pubmed: 16473305	c.1-?_26+?dup	p.M1?	large duplication	N-term	Rett syndrome - not certain	Unknown	F
3983	Evans, ... Pubmed: 15367913	AY523575.1:g.1029dupC	5'UTR variation	5'UTR variation	5'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	F
3984	Evans, ... Pubmed: 15367913	AY523575.1:g.1029dupC	5'UTR variation	5'UTR variation	5'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	M
3985	Evans, ... Pubmed: 15367913	AY523575.1:g.1029dupC	5'UTR variation	5'UTR variation	5'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	M
3986	Evans, ... Pubmed: 15367913	AY523575.1:g.1029dupC	5'UTR variation	5'UTR variation	5'UTR	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	M
1629	Bunyan, ...	c.26+2T>A	intronic variation	Intronic variation	Intronic	Rett syndrome - Not certain	Mutation associated with disease	F
2532	Kirstine Ravn, ... Pubmed: 15712379	c.26+25171_13878del50531ins14 (exons 3 and 4 deleted)	p.R9fs	Frameshift combined insertion and deletion	N-term	Rett syndrome - Classical	Mutation associated with disease	F
479	Directly submitted	c.27-8C>G	intronic variation	Intronic variation	Intronic	Rett syndrome - Classical	Unknown	F
1355	Laccone, ... Pubmed: 11241840	c.27-6C>G	p.R9fs	Intronic variation	Intronic	Rett syndrome - Not certain	Mutation associated with disease	U
1859	Bunyan, ...	c.27-2A>G	intronic variation	Intronic variation	Intronic	Rett syndrome - Not certain	Mutation associated with disease	F
1918	Boulanger, ...	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - Not certain	Mutation associated with disease	F
1919	Boulanger, ...	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - Not certain	Mutation associated with disease	F
2071	Cardiff, ...	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - Classical	Mutation associated with disease	F
2072	Cardiff, ...	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - Classical	Mutation associated with disease	F
2077	Cardiff, ...	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - Atypical	Mutation associated with disease	F
2078	Cardiff, ...	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - Classical	Mutation associated with disease	F
2079	Cardiff, ...	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - Classical	Mutation associated with disease	F
2080	Cardiff, ...	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - Classical	Mutation associated with disease	F
2081	Cardiff, ...	c.27-?_(378_1461)del	p.R9fs	Frameshift insertion or deletion	N-term	Rett syndrome - Classical	Mutation associated with disease	F
2082	Cardiff, ...	c.27-?_(378_1461)del	p.R9fs	Frameshift insertion or deletion	N-term	Rett syndrome - Classical	Mutation associated with disease	F
2101	Cardiff, ...	c.27-9A>G	intronic variation	Intronic variation	Intronic	Rett syndrome - Classical	Unknown	F
2500	D Bartholdi, ... Pubmed: 16630165	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - Atypical	Mutation associated with disease	F
2531	Kirstine Ravn, ... Pubmed: 15712379	c.27-12521_*5072del19784	p.R9fs	Frameshift insertion or deletion	N-term	Rett syndrome - Classical	Mutation associated with disease	F
2535	Kirstine Ravn, ... Pubmed: 15712379	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - Classical	Mutation associated with disease	F
2536	Kirstine Ravn, ... Pubmed: 15712379	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - Classical	Mutation associated with disease	F
2537	Kirstine Ravn, ... Pubmed: 15712379	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - Classical	Mutation associated with disease	F
2644	Zahorakova, ... Pubmed: 17387578	c.27-?_*8554+?del (deletion of exons 3 and 4)	p.R9fs	frameshift insertion or deletion	N-term	Rett syndrome - Classical	Mutation associated with disease	F
2661	Coutinho, ... Pubmed: 17427193	c.27-55G>A	intronic variation	intronic variation	intronic	Not Rett synd. - Autism	Unknown	U
2782	Pan, ... Pubmed: 17026625	c.27-?_1337+?del	p.R9fs	frameshift insertion or deletion	N-term	Rett syndrome - classical	Mutation associated with disease	F
2784	Pan, ... Pubmed: 17026625	c.27-?_1337+?del	p.R9fs	frameshift insertion or deletion	N-term	Rett syndrome - classical	Mutation associated with disease	F
2785	Pan, ... Pubmed: 17026625	c.27-?_1185+?del	p.R9fs	frameshift insertion or deletion	N-term	Rett syndrome - classical	Mutation associated with disease	F
2787	Pan, ... Pubmed: 17026625	c.27-?_1337+?del	p.R9fs	frameshift insertion or deletion	N-term	Rett syndrome - classical	Mutation associated with disease	F
2789	Pan, ... Pubmed: 17026625	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - classical	Mutation associated with disease	F
2791	Pan, ... Pubmed: 17026625	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - classical	Mutation associated with disease	F
2904	Schollen, ... Pubmed: 12872251	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - classical	Mutation associated with disease	F
2905	Schollen, ... Pubmed: 12872251	c.27-6215_1190del8136 (Deletion of exon 3 and part of exon 4)	p.R9fs	frameshift insertion or deletion	N-term	Rett syndrome - classical	Mutation associated with disease	F
2908	Erlandson, ... Pubmed: 15000811	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - classical	Mutation associated with disease	F
2909	Erlandson, ... Pubmed: 15000811	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - classical	Mutation associated with disease	F
2974	Kammoun, ... Pubmed: 15173251	c.27-2A>G	intronic variation	intronic variation	N-term	Rett syndrome - atypical	Mutation associated with disease	F
3331	Philippe C, ... Pubmed: 16473305	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - not certain	Mutation associated with disease	F
3332	Philippe C, ... Pubmed: 16473305	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - not certain	Mutation associated with disease	F
3333	Philippe C, ... Pubmed: 16473305	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - not certain	Mutation associated with disease	F
3334	Philippe C, ... Pubmed: 16473305	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - not certain	Mutation associated with disease	F
3335	Philippe C, ... Pubmed: 16473305	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - not certain	Mutation associated with disease	F
3336	Philippe C, ... Pubmed: 16473305	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - not certain	Mutation associated with disease	F
3337	Philippe C, ... Pubmed: 16473305	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - not certain	Mutation associated with disease	F
3338	Philippe C, ... Pubmed: 16473305	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - not certain	Mutation associated with disease	F
3339	Philippe C, ... Pubmed: 16473305	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - not certain	Mutation associated with disease	F
3340	Laccone, ... Pubmed: 14974082	c.27-96_1205del (deletion of exon 3 and 4)	p.R9fs	frameshift insertion or deletion	N-term	Rett syndrome - not certain	Mutation associated with disease	F
3342	Laccone, ... Pubmed: 14974082	c.27-4722_*739delins43	p.R9fs	frameshift combined insertion and deletion	N-term	Rett syndrome - not certain	Mutation associated with disease	F
3343	Laccone, ... Pubmed: 14974082	c.27-4722_*112delinsCACTTTGTG	p.R9fs	frameshift combined insertion and deletion	N-term	Rett syndrome - not certain	Mutation associated with disease	F
3344	Laccone, ... Pubmed: 14974082	c.27-6026_1190delinsGT (deletion of exons 3 and 4)	p.R9fs	frameshift combined insertion and deletion	N-term	Rett syndrome - not certain	Mutation associated with disease	F
3345	Laccone, ... Pubmed: 14974082	c.27-3928_1184del (deletion of exons 3 and 4)	p.R9fs	frameshift insertion or deletion	N-term	Rett syndrome - not certain	Mutation associated with disease	F
3349	Laccone, ... Pubmed: 14974082	c.27-5774_902delinsGTGCCCGGACTGATGTCA (deletion of exon 3 and part of exon 4)	p.R9fs	frameshift combined insertion and deletion	N-term	Rett syndrome - not certain	Mutation associated with disease	F
3350	Laccone, ... Pubmed: 14974082	c.27-?_377+?del (exon 3 deletion)	p.R9_N126delinsS	frameshift insertion or deletion	N-term	Rett syndrome - not certain	Mutation associated with disease	F
3353	Laccone, ... Pubmed: 14974082	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - not certain	Mutation associated with disease	F
3612	Li, ... Pubmed: 17089071	c.27-?_1021+?del (deletion of exons 3 and start of exon 4)	p.R9fs	frameshift insertion or deletion	N-term	Rett syndrome - not certain	Mutation associated with disease	F
3613	Li, ... Pubmed: 17089071	c.27-?_1170+?del (deletion of exon 3 and part of exon 4)	p.R9fs	frameshift insertion or deletion	N-term	Rett syndrome - not certain	Mutation associated with disease	F
3614	Li, ... Pubmed: 17089071	c.27-?_1170+?del (deletion of exon 3 and part of exon 4)	p.R9fs	frameshift insertion or deletion	N-term	Rett syndrome - not certain	Mutation associated with disease	F
3615	Li, ... Pubmed: 17089071	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - not certain	Mutation associated with disease	F
3616	Li, ... Pubmed: 17089071	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - not certain	Mutation associated with disease	F
3617	Li, ... Pubmed: 17089071	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - not certain	Mutation associated with disease	F
3767	Fukuda, ... Pubmed: 15737703	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - classical	Mutation associated with disease	F
3772	Archer HL, ... Pubmed: 16183801	c.27-?_1018+?del	p.R9fs	exonic deletions	N-term	Rett syndrome - classical	Mutation associated with disease	F
3773	Archer HL, ... Pubmed: 16183801	c.27-?_1018+?del	p.R9fs	exonic deletions	N-term	Rett syndrome - atypical	Mutation associated with disease	F
3774	Archer HL, ... Pubmed: 16183801	c.27-?_1018+?del	p.R9fs	exonic deletions	N-term	Rett syndrome - classical	Mutation associated with disease	F
3775	Archer HL, ... Pubmed: 16183801	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - classical	Mutation associated with disease	F
3776	Archer HL, ... Pubmed: 16183801	c.27-?_*?del	p.R9fs	exon deletions	N-term	Rett syndrome - classical	Mutation associated with disease	F
3777	Archer HL, ... Pubmed: 16183801	c.27-?_1397+?del	p.R9fs	exonic deletions	N-term	Rett syndrome - classical	Mutation associated with disease	F
3778	Archer HL, ... Pubmed: 16183801	c.27-?_1397+?del	p.R9fs	exonic deletions	N-term	Rett syndrome - classical	Mutation associated with disease	F
3779	Archer HL, ... Pubmed: 16183801	c.27-?_1397+?del	p.R9fs	exonic deletions	N-term	Rett syndrome - classical	Mutation associated with disease	F
4777	Mittal, ... Pubmed: 21871116	c.27-?_377+?del (exon 3 deletion)	p.R9_N126delinsS	frameshift insertion or deletion	N-term	Rett syndrome - not certain	Mutation associated with disease	F
4778	Mittal, ... Pubmed: 21871116	c.27-?_377+?del (exon 3 deletion)	p.R9_N126delinsS	frameshift insertion or deletion	N-term	Rett syndrome - not certain	Mutation associated with disease	F
4827	Kobayashi, ... Pubmed: 22001500	c.27-?_1029+?del (deletion of exon 3 and partial deletion of exon 4)	p.R9?	frameshift insertion or deletion	N-term	Rett syndrome - congenital	Mutation associated with disease	F
4934	Todorov, ... Pubmed: 22525432	c.27-?_*?del (deletion of exons 3 and 4)	p.R9?	exonic deletion	N-term	Rett syndrome - classical	Mutation associated with disease	F
4935	Todorov, ... Pubmed: 22525432	c.27-?_*?del (deletion of exons 3 and 4)	p.R9?	exonic deletion	N-term	Rett syndrome - classical	Mutation associated with disease	F
6353	Directly submitted	c.27-8C>G	intronic variation	intronic variation	intronic	Rett syndrome - classical	Unknown	F
6352	Directly submitted	c.27-2A>G	intronic variation	intronic variation	intronic	Rett syndrome - classical	Mutation associated with disease	F
6351	Directly submitted	c.27-2A>G	intronic variation	intronic variation	intronic	Rett syndrome - classical	Mutation associated with disease	F
2866	Smeets, ... Pubmed: 12966523	c.28G>C	p.E10Q	missense	N-term	Rett syndrome - forme fruste	Unknown	F
3168	Philippe C, ... Pubmed: 16473305	c.28G>T	p.E10X	nonsense	N-term	Rett syndrome - not certain	Mutation associated with disease	F
1458	Vacca, ... Pubmed: 11269512	c.35_42dup	p.D15fs	Frameshift insertion or deletion	N-term	Rett syndrome - Classical	Mutation associated with disease	F
2865	Conforti, ... Pubmed: 12567420	c.36G>C	p.K12N	missense	N-term	Rett syndrome - not certain	Polymorphism not causing disease	F
4046	Conforti, ... Pubmed: 12567420	c.36G>C	p.K12N	missense	N-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
1678	Friez, ...	c.46C>T	p.Q16X	Nonsense	N-term	Not known	Mutation associated with disease	F
1762	Friez, ...	c.46C>T	p.Q16X	Nonsense	N-term	Not known	Mutation associated with disease	F
4789	Khajuria, ... Pubmed: 21300488	c.50dupA	p.D17fs	frameshift insertion or deletion	N-term	Rett syndrome - classical	Mutation associated with disease	F
1264	Kim, ... Pubmed: 10737989	c.55C>T	p.Q19X	Nonsense	N-term	Rett syndrome - Atypical	Mutation associated with disease	F
4469	Das, ...	c.55C>T	p.Q19X	nonsense	N-term	Not known	Mutation associated with disease	F
4470	Das, ...	c.56dupA	p.L21fs	frameshift insertion or deletion	N-term	Not known	Mutation associated with disease	F
1404	Nicolao, ... Pubmed: 11462237	c.64A>T	p.K22X	Nonsense	N-term	Rett syndrome - Classical	Mutation associated with disease	F
1459	Vacca, ... Pubmed: 11269512	c.64A>T	p.K22X	Nonsense	N-term	Rett syndrome - Classical	Mutation associated with disease	F
878	Directly submitted	c.76delC	p.L26fs	Frameshift insertion or deletion	N-term	Rett syndrome - Classical	Mutation associated with disease	U
3383	Nielsen JB, ... Pubmed: 11313756	c.76delC	p.L26fs	frameshift insertion or deletion	N-term	Rett syndrome - classical	Mutation associated with disease	F
2365	Cardiff, ...	c.91delG	p.V31X	Frameshift insertion or deletion	N-term	Rett syndrome - Classical	Mutation associated with disease	F
468	Directly submitted	c.100_103delGATA	p.D34fs	Frameshift insertion or deletion	N-term	Rett syndrome - Classical	Mutation associated with disease	F
1525	Yamada, ... Pubmed: 11524741	c.100_103delGATA	p.D34fs	Frameshift insertion or deletion	N-term	Rett syndrome - classical	Mutation associated with disease	U
3255	Philippe C, ... Pubmed: 16473305	c.107_113del7	p.K36fs	frameshift insertion or deletion	N-term	Rett syndrome - not certain	Mutation associated with disease	F
3744	Fukuda, ... Pubmed: 15737703	c.107_108delAA	p.K36fs	frameshift insertion or deletion	N-term	Rett syndrome - classical	Mutation associated with disease	F
1857	Bunyan, ...	c.108_111delAGAA	p.E37fs	Frameshift insertion or deletion	N-term	Rett syndrome - Not certain	Mutation associated with disease	F
1876	Directly submitted	c.108_111delAGAA	p.E37fs	Frameshift insertion or deletion	N-term	Rett syndrome - Not certain	Mutation associated with disease	F
3256	Philippe C, ... Pubmed: 16473305	c.117dupA	p.E40fs	frameshift insertion or deletion	N-term	Rett syndrome - not certain	Mutation associated with disease	F
3596	Li, ... Pubmed: 17089071	c.119_120delAG	p.E40fs	frameshift insertion or deletion	N-term	Rett syndrome - not certain	Mutation associated with disease	F
3869	Julich, ... Pubmed: 19559301	c.119_120delAG	p.E40fs	frameshift insertion or deletion	N-term	Not Rett synd. - neonatal encephalopathy	Mutation associated with disease	M
6582	Directly submitted	CDKL5: c.119C>T	CDKL5: p.A40V	missense	CDKL5	Not Rett synd. - congenital onset	Mutation associated with disease	F
2100	Cardiff, ...	c.126dupG	p.H43fs	Frameshift insertion or deletion	N-term	Rett syndrome - Atypical	Mutation associated with disease	F
3035	Yaron Y, ... Pubmed: 12325033	c.140dupA	p.P48fs	frameshift insertion or deletion	N-term	Rett syndrome - classical	Mutation associated with disease	F
236	Bourdon, ... Pubmed: 11214906	c.146C>A	p.S49X	Nonsense	N-term	Rett syndrome - Not certain	Mutation associated with disease	U
1755	Friez, ...	c.146C>A	p.S49X	Nonsense	N-term	Not known	Mutation associated with disease	F
2338	Cardiff, ...	c.146C>A	p.S49X	Nonsense	N-term	Rett syndrome - Atypical	Mutation associated with disease	F
4423	Das, ...	c.146C>G	p.S49X	nonsense	N-term	Not known	Mutation associated with disease	F
6602	Directly submitted	c.146C>A	p.S49X	nonsense	N-term	Rett syndrome - classical	Mutation associated with disease	F
4393	Khajuria, ...	c.153C>G	p.H51Q	missense	N-term	Not Rett synd. - unaffected family member	Unknown	F
4788	Khajuria, ... Pubmed: 21300488	c.153C>G	p.H51Q	missense	N-term	Not Rett synd. - unaffected family member	Unknown	F
2141	Cardiff, ...	c.155A>G	p.H52R	Missense	N-term	Not Rett synd. - not certain	Unknown	F
7025	Huong Le Thi Thanh , ... Pubmed: 30081849	c.164_182del		frameshift insertion or deletion	N-term	Rett syndrome - classical	Mutation associated with disease	F
1024	Clayton-Smith, ... Pubmed: 11022934	c.167_168delCC	p.P56fs	Frameshift insertion or deletion	N-term		Mutation associated with disease	M
1155	Watson, ... Pubmed: 11283202	c.167_168delCC	p.P56fs	Frameshift insertion or deletion	N-term	Not Rett synd. - Angelman syndrome	Mutation associated with disease	M
147	Amano, ... Pubmed: 10944854	c.168C>T	p.P56P	Silent	N-term	Rett syndrome - Not certain	Silent polymorphism	U
1794	Friez, ...	c.168C>T	p.P56P	Silent	N-term	Not known	Silent polymorphism	M
2140	Cardiff, ...	c.168C>T	p.P56P	Silent	N-term	Not known	Silent polymorphism	M
5137	Maortua, ... Pubmed: 23810759	c.184-?_1065+?del	p.?	exonic deletions	MBD	Rett syndrome - classical	Mutation associated with disease	F
2564	Zahorakova, ... Pubmed: 17387578	c.189_190delGA	p.E63fs	frameshift insertion or deletion	N-term	Rett syndrome - Classical	Mutation associated with disease	F
1732	Friez, ...	c.194C>G	p.S65X	Nonsense	N-term	Not known	Mutation associated with disease	F
4424	Das, ...	c.194C>G	p.S65X	nonsense	N-term	Not known	Mutation associated with disease	F
1357	Laccone, ... Pubmed: 11241840	c.201delG	p.S68fs	Frameshift insertion or deletion	N-term	Rett syndrome - Not certain	Mutation associated with disease	U
3686	Fukuda, ... Pubmed: 15737703	c.203C>G	p.S68X	nonsense	MBD	Rett syndrome - classical	Mutation associated with disease	F
1729	Friez, ...	c.210C>T	p.S70S	Silent	N-term	Not known	Silent polymorphism	F
1737	Friez, ...	c.210C>T	p.S70S	Silent	N-term	Not known	Silent polymorphism	M
1763	Friez, ...	c.210C>T	p.S70S	Silent	N-term	Not known	Silent polymorphism	F
1771	Friez, ...	c.210C>T	p.S70S	Silent	N-term	Not known	Silent polymorphism	M
2139	Cardiff, ...	c.215C>T	p.P72L	Missense	N-term	Not known	Unknown	M
2930	Kammoun, ... Pubmed: 15173251	c.215dupC	p.A73fs	frameshift insertion or deletion	N-term	Rett syndrome - classical	Mutation associated with disease	F
3257	Philippe C, ... Pubmed: 16473305	c.215_216insT	p.A73fs	frameshift insertion or deletion	N-term	Rett syndrome - not certain	Mutation associated with disease	F
4425	Das, ...	c.224C>T	p. P75L	missense	N-term	Not known	Unknown	F
3020	Yntema HG, ... Pubmed: 12111644	c.225G>A	p.P75P	silent	N-term	Not Rett synd. - mental retardation	Silent polymorphism	M
6641	Directly submitted	c.226delG	p.E76fs	frameshift insertion or deletion	MBD	Rett syndrome - classical	Mutation associated with disease	F
1713	Friez, ...	c.229_238del10	p.A77fs	Frameshift insertion or deletion	N-term	Not known	Mutation associated with disease	F
6640	Directly submitted	c.229_238del10	p.A77fs	frameshift insertion or deletion	MBD	Rett syndrome - classical	Mutation associated with disease	F
3753	Fukuda, ... Pubmed: 15737703	c.233delC	p.S78fs	frameshift insertion or deletion	MBD	Rett syndrome - classical	Mutation associated with disease	F
3750	Fukuda, ... Pubmed: 15737703	c.243dupC	p.K82fs	frameshift insertion or deletion	MBD	Rett syndrome - classical	Mutation associated with disease	F
2673	Coutinho, ... Pubmed: 17427193	c.245A>G	p.K82R	missense	MBD	Not Rett synd. - Non-Rett syndrome control	Polymorphism not causing disease	M
4806	Mittal, ... Pubmed: 21812101	c.248-?_320+?del (exon 3 deletion)	p.?	in-frame insertion or deletion	MBD	Rett syndrome - classical	Mutation associated with disease	F
1766	Friez, ...	c.249_250ins7	p.R84fs	Frameshift insertion or deletion	MBD	Not known	Mutation associated with disease	F
1138	Buyse, ... Pubmed: 11055898	c.257C>G	p.S86C	Missense	MBD	Rett syndrome - Not certain	Unknown	F
123	Huppke, ... Pubmed: 10814718	c.258_259delCA	p.I87fs	Frameshift insertion or deletion	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
4396	Khajuria, ...	c.274G>T	p.G92X	nonsense	MBD	Rett syndrome - classical	Mutation associated with disease	F
2138	Cardiff, ...	c.277C>T	p.P93S	Missense	MBD	Rett syndrome - Classical	Unknown	F
4080	Khajuria, ...	c.279C>T	p.P93P	silent	MBD	Rett syndrome - atypical	Silent polymorphism	F
28	Hoffbuhr, ... Pubmed: 11402105	c.289G>T	p.D97Y	Missense	MBD	Rett syndrome - Not certain	Unknown	F
1221	Chae, ... Pubmed: 11913567	c.289G>T	p.D97Y	Missense	MBD	Rett syndrome - Classical	Unknown	F
2646	Stachon, ... Pubmed: 17420824	c.289G>T	p.D97Y	missense	MBD	Rett syndrome - not certain	Unknown	F
4346	Monnerat, ... Pubmed: 20031356	c.289G>T	p.D97Y	missense	MBD	Rett syndrome - Classical	Unknown	F
865	Xiang, ... Pubmed: 10745042	c.291C>A	p.D97E	Missense	MBD	Rett syndrome - Not certain	Unknown	U
3083	Philippe C, ... Pubmed: 16473305	c.291C>A	p.D97E	missense	MBD	Rett syndrome - not certain	Unknown	F
4181	Directly submitted	c.295_297delACC	p.T99del	in-frame insertion or deletion	MBD	Rett syndrome - classical	Mutation associated with disease	F
1877	Directly submitted	c.297C>G	p.T99T	Silent	MBD	Rett syndrome - Not certain	Silent polymorphism	F
1139	Buyse, ... Pubmed: 11055898	c.298C>G	p.L100V	Missense	MBD	Rett syndrome - Not certain	Unknown	F
1215	Chae, ... Pubmed: 11913567	c.298C>G	p.L100V	Missense	MBD	Rett syndrome - Classical	Unknown	F
1648	Directly submitted	c.298C>G	p.L100V	Missense	MBD	Rett syndrome - Not certain	Unknown	F
1946	Hammer, ... Pubmed: 12966522	c.298C>G	p.L100V	Missense	MBD	Rett syndrome - atypical	Unknown	F
2804	Kim, ... Pubmed: 16672765	c.298C>G	p.L100V	missense	MBD	Rett syndrome - classical	Unknown	F
4903	Kim, ... Pubmed: 22476991	c.298C>G	p.L100V	missense	MBD	Rett syndrome - not certain	Unknown	F
6599	Directly submitted	c.298C>G	p.L100V	missense	MBD	Rett syndrome - classical	Unknown	F
1932	Schanen, ... Pubmed: 15057977	c.299T>G	p.L100R	Missense	MBD	Rett syndrome - classical	Unknown	F
1436	Vacca, ... Pubmed: 11269512	c.301C>T	p.P101S	Missense	MBD	Rett syndrome - Classical	Unknown	F
1687	Friez, ...	c.301C>T	p.P101S	Missense	MBD	Not known	Unknown	F
1822	Bunyan, ...	c.301C>T	p.P101S	Missense	MBD	Rett syndrome - Not certain	Unknown	F
2169	Cardiff, ...	c.301C>T	p.P101S	Missense	MBD	Rett syndrome - Atypical	Unknown	F
190	Hampson, ... Pubmed: 10991689	c.302C>G	p.P101R	Missense	MBD	Rett syndrome - Not certain	Unknown	F
1152	Watson, ... Pubmed: 11283202	c.302C>G	p.P101R	Missense	MBD	Not Rett synd. - Angelman syndrome	Unknown	F
2167	Cardiff, ...	c.302C>A	p.P101H	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2168	Cardiff, ...	c.302C>T	p.P101L	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
4426	Das, ...	c.302C>G	p.P101R	missense	MBD	Not known	Unknown	F
6598	Directly submitted	c.302C>G	p.P101R	missense	MBD	Rett syndrome - classical	Unknown	F
6597	Directly submitted	c.302C>G	p.P101R	missense	MBD	Rett syndrome - classical	Unknown	F
4395	Khajuria, ...	c.308G>A	p.G103D	missense	MBD	Rett syndrome - atypical	Unknown	F
3514	Bienvenu T, ... Pubmed: 12180070	c.310T>C	p.W104R	missense	MBD	Rett syndrome - not certain	Unknown	F
2366	Cardiff, ...	c.311_323del13	p.W104fs	Frameshift insertion or deletion	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
2367	Cardiff, ...	c.311G>A	p.W104X	Nonsense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1923	Schanen, ... Pubmed: 15057977	c.315dupA	p.R106fs	Frameshift insertion or deletion	MBD	Rett syndrome - classical	Mutation associated with disease	F
6	Bunyan, ...	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
10	Bunyan, ...	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
49	Hoffbuhr, ... Pubmed: 11402105	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
50	Hoffbuhr, ... Pubmed: 11402105	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
51	Hoffbuhr, ... Pubmed: 11402105	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
52	Hoffbuhr, ... Pubmed: 11402105	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
53	Hoffbuhr, ... Pubmed: 11402105	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
54	Hoffbuhr, ... Pubmed: 11402105	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
55	Hoffbuhr, ... Pubmed: 11402105	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
104	Huppke, ... Pubmed: 10814718	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
154	Obata, ... Pubmed: 10991688	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
191	Hampson, ... Pubmed: 10991689	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
224	Bourdon, ... Pubmed: 11214906	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
225	Bourdon, ... Pubmed: 11214906	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
226	Bourdon, ... Pubmed: 11214906	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
227	Bourdon, ... Pubmed: 11214906	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
262	Trappe, ... Pubmed: 11309679	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
289	Auranen, ... Pubmed: 11245712	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
290	Auranen, ... Pubmed: 11245712	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
368	Directly submitted	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
370	Directly submitted	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
424	Directly submitted	c.316C>T	p.R106W	Missense	MBD	Not known	Mutation associated with disease	F
456	Directly submitted	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
879	Directly submitted	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	U
864	Xiang, ... Pubmed: 10745042	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
863	Xiang, ... Pubmed: 10745042	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
846	Amir, ... Pubmed: 10508514	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
845	Amir, ... Pubmed: 10508514	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
844	Amir, ... Pubmed: 10508514	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	U
1027	Buyse, ... Pubmed: 11055898	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1028	Buyse, ... Pubmed: 11055898	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1029	Buyse, ... Pubmed: 11055898	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1145	Imessaoudene, ... Pubmed: 11238684	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1223	Erlandson, ... Pubmed: 11469283	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1242	Huppke, ... Pubmed: 12075485	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1273	Laccone, ... Pubmed: 11241840	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
1274	Laccone, ... Pubmed: 11241840	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
1275	Laccone, ... Pubmed: 11241840	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
1276	Laccone, ... Pubmed: 11241840	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
1277	Laccone, ... Pubmed: 11241840	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
1278	Laccone, ... Pubmed: 11241840	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
1376	Lam, ... Pubmed: 11106359	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1437	Vacca, ... Pubmed: 11269512	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1482	Wan, ... Pubmed: 10577905	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1612	Bunyan, ...	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1625	Bunyan, ...	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1682	Friez, ...	c.316C>T	p.R106W	Missense	MBD	Not known	Mutation associated with disease	F
1699	Friez, ...	c.316C>T	p.R106W	Missense	MBD	Not known	Mutation associated with disease	F
1727	Friez, ...	c.316C>T	p.R106W	Missense	MBD	Not known	Mutation associated with disease	F
1752	Friez, ...	c.316C>T	p.R106W	Missense	MBD	Not known	Mutation associated with disease	F
1792	Friez, ...	c.316C>T	p.R106W	Missense	MBD	Not known	Mutation associated with disease	F
1801	Friez, ...	c.316C>T	p.R106W	Missense	MBD	Not known	Mutation associated with disease	F
1878	Directly submitted	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1879	Directly submitted	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1880	Directly submitted	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1881	Directly submitted	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1924	Schanen, ... Pubmed: 15057977	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
2023	Directly submitted	c.316C>T	p.R106W	Missense	MBD	Not known	Mutation associated with disease	F
2067	Directly submitted	c.316C>T	p.R106W	Missense	MBD	Not known	Mutation associated with disease	F
2194	Cardiff, ...	c.316C>G	p.R106G	Missense	MBD	Rett syndrome - Classical	Unknown	F
2195	Cardiff, ...	c.316C>G	p.R106G	Missense	MBD	Not Rett synd. - Unaffected family member	Unknown	F
2196	Cardiff, ...	c.316C>G	p.R106G	Missense	MBD	Rett syndrome - Atypical	Unknown	F
2197	Cardiff, ...	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2198	Cardiff, ...	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
2199	Cardiff, ...	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2200	Cardiff, ...	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2201	Cardiff, ...	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2202	Cardiff, ...	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
2203	Cardiff, ...	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2204	Cardiff, ...	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
2205	Cardiff, ...	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
2419	Directly submitted	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Forme fruste	Mutation associated with disease	F
2438	Monros, ... Pubmed: 11738885	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2470	Monros, ... Pubmed: 11738885	c.316C>T	p.R106W	Missense	MBD	Rett syndrome - Preserved speech	Mutation associated with disease	F
2565	Zahorakova, ... Pubmed: 17387578	c.316C>T	p.R106W	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2566	Zahorakova, ... Pubmed: 17387578	c.316C>T	p.R106W	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2567	Zahorakova, ... Pubmed: 17387578	c.316C>T	p.R106W	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2568	Zahorakova, ... Pubmed: 17387578	c.316C>T	p.R106W	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2569	Zahorakova, ... Pubmed: 17387578	c.316C>T	p.R106W	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
3036	Yaron Y, ... Pubmed: 12325033	c.316C>T	p.R106W	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3037	Yaron Y, ... Pubmed: 12325033	c.316C>T	p.R106W	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3067	Giunti L, ... Pubmed: 11738883	c.316C>T	p.R106W	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3087	Philippe C, ... Pubmed: 16473305	c.316C>T	p.R106W	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3088	Philippe C, ... Pubmed: 16473305	c.316C>T	p.R106W	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3089	Philippe C, ... Pubmed: 16473305	c.316C>T	p.R106W	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3090	Philippe C, ... Pubmed: 16473305	c.316C>T	p.R106W	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3091	Philippe C, ... Pubmed: 16473305	c.316C>T	p.R106W	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3092	Philippe C, ... Pubmed: 16473305	c.316C>T	p.R106W	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3093	Philippe C, ... Pubmed: 16473305	c.316C>T	p.R106W	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3094	Philippe C, ... Pubmed: 16473305	c.316C>T	p.R106W	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3095	Philippe C, ... Pubmed: 16473305	c.316C>G	p.R106G	missense	MBD	Rett syndrome - not certain	Unknown	F
3382	Nielsen JB, ... Pubmed: 11313756	c.316C>T	p.R106W	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3395	Yamashita Y, ... Pubmed: 11738864	c.316C>T	p.R106W	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3419	Bienvenu T, ... Pubmed: 12180070	c.316C>T	p.R106W	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3420	Bienvenu T, ... Pubmed: 12180070	c.316C>T	p.R106W	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3421	Bienvenu T, ... Pubmed: 12180070	c.316C>T	p.R106W	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3422	Bienvenu T, ... Pubmed: 12180070	c.316C>T	p.R106W	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3423	Bienvenu T, ... Pubmed: 12180070	c.316C>T	p.R106W	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3424	Bienvenu T, ... Pubmed: 12180070	c.316C>T	p.R106W	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3425	Bienvenu T, ... Pubmed: 12180070	c.316C>G	p.R106G	missense	MBD	Rett syndrome - not certain	Unknown	F
3523	Li, ... Pubmed: 17089071	c.316C>T	p.R106W	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3524	Li, ... Pubmed: 17089071	c.316C>T	p.R106W	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3628	Fukuda, ... Pubmed: 15737703	c.316C>T	p.R106W	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3629	Fukuda, ... Pubmed: 15737703	c.316C>T	p.R106W	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3630	Fukuda, ... Pubmed: 15737703	c.316C>T	p.R106W	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3803	Wong, ... Pubmed: 18174559	c.316C>T	p.R106W	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
4135	Milunsky, ... Pubmed: 11960578	c.316C>T	p.R106W	missense	MBD	Not known	Mutation associated with disease	F
4136	Milunsky, ... Pubmed: 11960578	c.316C>T	p.R106W	missense	MBD	Not known	Mutation associated with disease	F
4137	Milunsky, ... Pubmed: 11960578	c.316C>T	p.R106W	missense	MBD	Not known	Mutation associated with disease	F
4138	Milunsky, ... Pubmed: 11960578	c.316C>T	p.R106W	missense	MBD	Not known	Mutation associated with disease	F
4139	Milunsky, ... Pubmed: 11960578	c.316C>T	p.R106W	missense	MBD	Not known	Mutation associated with disease	F
4227	de Lima, ... Pubmed: 19722030	c.316C>T	p.R106W	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
4228	de Lima, ... Pubmed: 19722030	c.316C>T	p.R106W	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
4229	de Lima, ... Pubmed: 19722030	c.316C>T	p.R106W	missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
4315	Raizis, ... Pubmed: 19652677	c.316C>T	p.R106W	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
4427	Das, ...	c.316C>T	p.R106W	missense	MBD	Not known	Mutation associated with disease	F
4428	Das, ...	c.316C>T	p.R106W	missense	MBD	Not known	Mutation associated with disease	F
4728	Hadzsiev, ... Pubmed: 21160487	c.316C>T	p.R106W	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
4729	Hadzsiev, ... Pubmed: 21160487	c.316C>T	p.R106W	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
4808	Corbani, ... Pubmed: 21954873	c.316C>T	p.R106W	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
4828	Psoni, ... Pubmed: 21982064	c.316C>T	p.R106W	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
4829	Psoni, ... Pubmed: 21982064	c.316C>T	p.R106W	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
4830	Psoni, ... Pubmed: 21982064	c.316C>T	p.R106W	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
4831	Psoni, ... Pubmed: 21982064	c.316C>T	p.R106W	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
4904	Kim, ... Pubmed: 22476991	c.316C>T	p.R106W	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
5054	Das, ... Pubmed: 23262346	c.316C>T	p.R106W	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
6574	Directly submitted	c.316C>T	p.R106W	missense	MBD	Not Rett synd. - mental retardation	Mutation associated with disease	F
6573	Directly submitted	c.316C>T	p.R106W	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6572	Directly submitted	c.316C>T	p.R106W	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6571	Directly submitted	c.316C>T	p.R106W	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6570	Directly submitted	c.316C>T	p.R106W	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6569	Directly submitted	c.316C>T	p.R106W	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6568	Directly submitted	c.316C>T	p.R106W	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6567	Directly submitted	c.316C>T	p.R106W	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6566	Directly submitted	c.316C>T	p.R106W	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6565	Directly submitted	c.316C>T	p.R106W	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6564	Directly submitted	c.316C>T	p.R106W	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
7031	Tsutomu Shioda , ... Pubmed: 29631775	c.316C>T		missense	MBD	Not Rett synd. - progressive encephalopathy of neonatal onset	Mutation associated with disease	M
7040	Tsutomu Shioda , ... Pubmed: 29631775	c.316C>T		missense	MBD	Not Rett synd. - progressive encephalopathy of neonatal onset	Mutation associated with disease	M
372	Directly submitted	c.317G>A	p.R106Q	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
921	Bienvenu, ... Pubmed: 10814719	c.317G>A	p.R106Q	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1025	Buyse, ... Pubmed: 11055898	c.317G>A	p.R106Q	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1026	Buyse, ... Pubmed: 11055898	c.317G>A	p.R106Q	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1262	Ishii, ... Pubmed: 11738865	c.317G>A	p.R106Q	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1263	Ishii, ... Pubmed: 11738865	c.317G>A	p.R106Q	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1882	Directly submitted	c.317G>A	p.R106Q	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1883	Directly submitted	c.317G>A	p.R106Q	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
2033	Directly submitted	c.317G>A	p.R106Q	Missense	MBD	Not known	Mutation associated with disease	F
2436	Directly submitted	c.317G>A	p.R106Q	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2484	Directly submitted	c.317G>T	p.R106L	Missense	MBD	Rett syndrome - Classical	Unknown	F
3084	Philippe C, ... Pubmed: 16473305	c.317G>A	p.R106Q	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3085	Philippe C, ... Pubmed: 16473305	c.317G>A	p.R106Q	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3086	Philippe C, ... Pubmed: 16473305	c.317G>A	p.R106Q	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3418	Bienvenu T, ... Pubmed: 12180070	c.317G>A	p.R106Q	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3525	Li, ... Pubmed: 17089071	c.317G>A	p.R106Q	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3631	Fukuda, ... Pubmed: 15737703	c.317G>A	p.R106Q	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3632	Fukuda, ... Pubmed: 15737703	c.317G>A	p.R106Q	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
4730	Hadzsiev, ... Pubmed: 21160487	c.317G>A	p.R106Q	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
4731	Hadzsiev, ... Pubmed: 21160487	c.317G>A	p.R106Q	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
6759	Daniela�Zahorakova, ... Pubmed: 26984561	c.317G>A	p.R106Q	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6577	Directly submitted	c.317G>A	p.R106Q	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
4932	Todorov, ... Pubmed: 22525432	c.318_321dup	p.L108fs	frameshift insertion or deletion	MBD	Rett syndrome - classical	Mutation associated with disease	F
2570	Zahorakova, ... Pubmed: 17387578	c.323T>A	p.L108H	missense	MBD	Rett syndrome - Classical	Unknown	F
4347	Monnerat, ... Pubmed: 20031356	c.326dupA	p.Q110fs	frameshift insertion or deletion	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1279	Laccone, ... Pubmed: 11241840	c.331A>G	p.R111G	Missense	MBD	Rett syndrome - Not certain	Unknown	U
1884	Directly submitted	c.341G>C	p.G114A	Missense	MBD	Rett syndrome - Not certain	Unknown	F
4306	Raizis, ... Pubmed: 19652677	c.343_1282del	p.R115_E394del	in-frame insertion or deletion	MBD, inter-domain, TRD, TRD-NLS, C-term	Rett syndrome - not certain	Mutation associated with disease	F
1201	Bienvenu, ... Pubmed: 11524737	c.345delC	p.S116fs	Frameshift insertion or deletion	MBD	Rett syndrome - Classical	Mutation associated with disease	F
3796	Inui, ... Pubmed: 11376998	c.358T>G	p.Y120D	missense	MBD	Rett syndrome - not certain	Unknown	F
2065	Directly submitted	c.362A>G	p.D121G	Missense	MBD	Not known	Unknown	F
3526	Li, ... Pubmed: 17089071	c.364G>A	p.V122M	missense	MBD	Rett syndrome - not certain	Unknown	F
4036	McWilliam, ... Pubmed: 19592282	c.365T>C	p.V122A	missense	MBD	Not Rett synd.	Unknown	M
4037	McWilliam, ... Pubmed: 19592282	c.365T>C	p.V122A	missense	MBD	Not Rett synd.	Unknown	F
4038	McWilliam, ... Pubmed: 19592282	c.365T>C	p.V122A	missense	MBD	Not Rett synd.	Unknown	F
155	Obata, ... Pubmed: 10991688	c.372G>C	p.L124F	Missense	MBD	Rett syndrome - Classical	Unknown	F
3396	Yamashita Y, ... Pubmed: 11738864	c.372G>C	p.L124F	missense	MBD	Rett syndrome - classical	Unknown	F
3633	Fukuda, ... Pubmed: 15737703	c.372G>T	p.L124F	missense	MBD	Rett syndrome - classical	Unknown	F
185	Obata, ... Pubmed: 10991688	c.375delC	p.N126fs	Frameshift insertion or deletion	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1002	Cheadle, ... Pubmed: 10767337	c.375C>A	p.I125I	Silent	MBD	Rett syndrome - Not certain	Silent polymorphism	U
1123	Buyse, ... Pubmed: 11055898	c.375C>A	p.I125I	Silent	MBD	Rett syndrome - Not certain	Silent polymorphism	F
1826	Bunyan, ...	c.375C>A	p.I125I	Silent	MBD	Rett syndrome - Not certain	Silent polymorphism	F
3754	Fukuda, ... Pubmed: 15737703	c.375delC	p.N126fs	frameshift insertion or deletion	MBD	Rett syndrome - classical	Mutation associated with disease	F
4623	Piton, ... Pubmed: 20479760	c.375C>A	p.I125I	silent	MBD	Not Rett synd. - autism spectrum disorder	Silent polymorphism	U
4624	Piton, ... Pubmed: 20479760	c.375C>A	p.I125I	silent	MBD	Not Rett synd. - schizophrenia	Silent polymorphism	U
4625	Piton, ... Pubmed: 20479760	c.375C>A	p.I125I	silent	MBD	Not Rett synd. - normal control	Silent polymorphism	U
4749	Hadzsiev, ... Pubmed: 21160487	c.375C>A	p.I125I	silent	MBD	Rett syndrome - not certain	Silent polymorphism	F
6846	Daniela�Zahorakova, ... Pubmed: 26984561	c.375C>A	p.I125I	silent	MBD	Not Rett synd. - mental retardation	Silent polymorphism	F
208	Hampson, ... Pubmed: 10991689	c.377+11G>C	intronic variation	Intronic variation	Intronic	Rett syndrome - Not certain	Polymorphism not causing disease	F
1023	Couvert, ... Pubmed: 11309367	c.377+22C>G	intronic variation	Intronic variation	Intronic	Not Rett synd. - X-linked mental retardation	Polymorphism not causing disease	M
1356	Laccone, ... Pubmed: 11241840	c.377+2T>G	intronic variation	Intronic variation	Intronic	Rett syndrome - Not certain	Unknown	U
1382	Lam, ... Pubmed: 11106359	c.377+6_377+9del	intronic variation	Intronic variation	Intronic	Not Rett synd. - autism only	Unknown	F
1383	Lam, ... Pubmed: 11106359	c.377+22C>G	intronic variation	Intronic variation	Intronic	Not known	Polymorphism not causing disease	U
1384	Lam, ... Pubmed: 11106359	c.377+22C>G	intronic variation	Intronic variation	Intronic	Not known	Polymorphism not causing disease	U
1562	Beyer, ... Pubmed: 12384770	c.377+22C>G	intronic variation	Intronic variation	Intronic	Not Rett synd. - autism only	Polymorphism not causing disease	M
1563	Beyer, ... Pubmed: 12384770	c.377+95G>A	intronic variation	Intronic variation	Intronic	Not Rett synd. - autism only	Polymorphism not causing disease	M
1583	Beyer, ... Pubmed: 12384770	c.377+22C>G	intronic variation	Intronic variation	Intronic	Not Rett synd. - autism only	Polymorphism not causing disease	M
1584	Beyer, ... Pubmed: 12384770	c.377+22C>G	intronic variation	Intronic variation	Intronic	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
1585	Beyer, ... Pubmed: 12384770	c.377+22C>G	intronic variation	Intronic variation	Intronic	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
1586	Beyer, ... Pubmed: 12384770	c.377+95G>A	intronic variation	Intronic variation	Intronic	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
1705	Friez, ...	c.377+22C>G	intronic variation	Intronic variation	Intronic	Not known	Polymorphism not causing disease	F
1829	Bunyan, ...	c.377+22C>G	intronic variation	Intronic variation	Intronic	Rett syndrome - Not certain	Polymorphism not causing disease	F
1975	Tero Ylisaukko-oja, ... Pubmed: 15578581	c.377+22C>G	intronic variation	Intronic variation	Intronic	Not Rett synd. - Sporadic mental retardation	Polymorphism not causing disease	M
2384	Akane Shibayama, ... Pubmed: 15211631	c.377+22C>G	intronic variation	Intronic variation	Intronic	Not Rett synd. - Phobia	Polymorphism not causing disease	F
2385	Akane Shibayama, ... Pubmed: 15211631	c.377+22C>G	intronic variation	Intronic variation	Intronic	Not Rett synd. - Alcoholism	Polymorphism not causing disease	M
2386	Akane Shibayama, ... Pubmed: 15211631	c.377+22C>G	intronic variation	Intronic variation	Intronic	Not Rett synd. - Alcoholism	Polymorphism not causing disease	M
2630	Zahorakova, ... Pubmed: 17387578	c.377+22C>G	intronic variation	intronic variation	intronic	Rett syndrome - Classical	Polymorphism not causing disease	F
2631	Zahorakova, ... Pubmed: 17387578	c.377+22C>G	intronic variation	intronic variation	intronic	Rett syndrome - Classical	Polymorphism not causing disease	F
2662	Coutinho, ... Pubmed: 17427193	c.377+18C>G	intronic variation	intronic variation	intronic	Not Rett synd. - Autism	Unknown	U
2745	Campos, ... Pubmed: 17084570	c.377+24C>A	intronic variation	intronic variation	intronic	Not Rett synd. - mental retardation	Unknown	M
3763	Fukuda, ... Pubmed: 15737703	c.377+1G>T	intronic variation	intronic variation	intronic	Rett syndrome - classical	Mutation associated with disease	F
3935	Campos, ... Pubmed: 17084570	c.377+24C>A	intronic variation	intronic variation	intronic	Not Rett synd. - unaffected family member	Unknown	F
3936	Campos, ... Pubmed: 17084570	c.377+24C>A	intronic variation	intronic variation	intronic	Not Rett synd. - unaffected family member	Unknown	F
4094	Milunsky, ... Pubmed: 11960578	c.377A>G	p.N126S	missense	MBD	Not Rett synd. - microcephaly, neonatal seizures	Unknown	F
4199	Maiwald, ... Pubmed: 12481990	c.377+266T>C	intronic variation	intronic variation	intronic	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
4348	Monnerat, ... Pubmed: 20031356	c.377+1G>A	intronic variation	intronic variation	intronic	Rett syndrome - Classical	Mutation associated with disease	F
4388	Monnerat, ... Pubmed: 20031356	c.377+22C>G	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	F
5141	Maortua, ... Pubmed: 23810759	c.377+22C>G	intronic variation	intronic variation	intronic	Rett syndrome - not certain	Polymorphism not causing disease	F
5142	Maortua, ... Pubmed: 23810759	c.377+22C>G	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5143	Maortua, ... Pubmed: 23810759	c.377+28A>G	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5144	Maortua, ... Pubmed: 23810759	c.377+30G>A	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
6620	Directly submitted	c.377A>T	p.N126I	missense	MBD	Not Rett synd. - infant-onset encephalopathy	Unknown	M
6847	Daniela�Zahorakova, ... Pubmed: 26984561	c.377+22C>G	intronic variation	intronic	intronic	Not Rett synd. - mental retardation	Polymorphism not causing disease	F
20	Bunyan, ...	c.378-17delT	intronic variation	Intronic variation	Intronic	Rett syndrome - Not certain	Polymorphism not causing disease	F
103	Hoffbuhr, ... Pubmed: 11402105	c.378-2A>G	intronic variation	intronic variation	intronic	Rett syndrome - Not certain	Mutation associated with disease	F
124	Huppke, ... Pubmed: 10814718	c.378-2A>G	intronic variation	Intronic variation	Intronic	Rett syndrome - Not certain	Mutation associated with disease	F
207	Hampson, ... Pubmed: 10991689	c.378-17delT	intronic variation	Intronic variation	Intronic	Rett syndrome - Not certain	Polymorphism not causing disease	F
212	Orrico, ... Pubmed: 11007980	c.378-61C>G	intronic variation	Intronic variation	Intronic	Not Rett synd. - Sporadic mental retardation	Unknown	F
253	Bourdon, ... Pubmed: 11214906	c.378-2A>C	intronic variation	Intronic variation	Intronic	Rett syndrome - Not certain	Mutation associated with disease	U
284	Trappe, ... Pubmed: 11309679	c.378-2A>G	intronic variation	Intronic variation	Intronic	Rett syndrome - Not certain	Mutation associated with disease	F
470	Directly submitted	c.378-17delT	intronic variation	Intronic variation	Intronic	Rett syndrome - Atypical	Polymorphism not causing disease	F
1108	Buyse, ... Pubmed: 11055898	c.378-2A>G	intronic variation	Intronic variation	Intronic	Rett syndrome - Not certain	Mutation associated with disease	F
1233	Erlandson, ... Pubmed: 11469283	c.378-17delT	intronic variation	Intronic variation	Intronic	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
1372	Laccone, ... Pubmed: 11241840	c.378-17delT	intronic variation	Intronic variation	Intronic	Rett syndrome - Not certain	Polymorphism not causing disease	U
1433	Nicolao, ... Pubmed: 11462237	c.378-241C>T	intronic variation	Intronic variation	Intronic	Rett syndrome - Classical	Polymorphism not causing disease	F
1575	Beyer, ... Pubmed: 12384770	c.378-17delT	intronic variation	Intronic variation	Intronic	Not Rett synd. - autism only	Polymorphism not causing disease	M
1596	Bunyan, ...	c.378-17delT	intronic variation	Intronic variation	Intronic	Rett syndrome - Not certain	Polymorphism not causing disease	F
1597	Bunyan, ...	c.378-17delT	intronic variation	Intronic variation	Intronic	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	U
1638	Bunyan, ...	c.378-17delT	intronic variation	Intronic variation	Intronic	Rett syndrome - Not certain	Polymorphism not causing disease	F
1646	Bunyan, ...	c.378-17delT	intronic variation	Intronic variation	Intronic	Rett syndrome - Not certain	Polymorphism not causing disease	F
1647	Directly submitted	c.378-17delT	intronic variation	Intronic variation	Intronic	Rett syndrome - Not certain	Polymorphism not causing disease	F
1677	Friez, ...	c.378-2A>C	intronic variation	Intronic variation	Intronic	Not known	Mutation associated with disease	F
1817	Rosa, ... Pubmed: 12707062	c.378-17delT	intronic variation	Intronic variation	Intronic	Not Rett synd. - Not certain	Polymorphism not causing disease	M
1818	Rosa, ... Pubmed: 12707062	c.378-17delT	intronic variation	Intronic variation	Intronic	Not Rett synd. - Not certain	Polymorphism not causing disease	M
1825	Bunyan, ...	c.378-17delT	intronic variation	Intronic variation	Intronic	Rett syndrome - Not certain	Polymorphism not causing disease	F
1864	Bunyan, ...	c.378-?_*?del	p.N126fs	exon deletion	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1917	Boulanger, ...	c.378-?_*?del	p.N126fs	exon deletion	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1976	Tero Ylisaukko-oja, ... Pubmed: 15578581	c.378-17delT	intronic variation	Intronic variation	Intronic	Not Rett synd. - Sporadic mental retardation	Polymorphism not causing disease	M
1977	Tero Ylisaukko-oja, ... Pubmed: 15578581	c.378-17delT	intronic variation	Intronic variation	Intronic	Not Rett synd. - Sporadic mental retardation	Polymorphism not causing disease	M
2024	Directly submitted	c.378-17delT	intronic variation	Intronic variation	Intronic	Not known	Polymorphism not causing disease	F
2027	Directly submitted	c.378-17delT	intronic variation	Intronic variation	Intronic	Not known	Polymorphism not causing disease	F
2051	Directly submitted	c.378-17delT	intronic variation	Intronic variation	Intronic	Not known	Polymorphism not causing disease	F
2056	Directly submitted	c.378-74C>T	intronic variation	Intronic variation	Intronic	Not known	Polymorphism not causing disease	F
2057	Directly submitted	c.378-74C>T	intronic variation	Intronic variation	Intronic	Not known	Polymorphism not causing disease	F
2063	Directly submitted	c.378-17delT	intronic variation	Intronic variation	Intronic	Not known	Polymorphism not causing disease	F
2102	Cardiff, ...	c.378-3C>G	intronic variation	Intronic variation	Intronic	Rett syndrome - Classical	Mutation associated with disease	F
2387	Akane Shibayama, ... Pubmed: 15211631	c.378-17delT	intronic variation	Intronic variation	Intronic	Not Rett synd. - Alcoholism	Polymorphism not causing disease	M
2517	Tejada M-I, ... Pubmed: 16879196	c.378-17delT	intronic variation	Intronic variation	Intronic	Not Rett synd. - Sporadic mental retardation	Polymorphism not causing disease	F
2518	Tejada M-I, ... Pubmed: 16879196	c.378-17delT	intronic variation	Intronic variation	Intronic	Not Rett synd. - Sporadic mental retardation	Polymorphism not causing disease	F
2642	Zahorakova, ... Pubmed: 17387578	c.378-17delT	intronic variation	intronic variation	intronic	Rett syndrome - Classical	Polymorphism not causing disease	F
2649	Lesca, ... Pubmed: 17383248	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - sporadic mental retardation	Polymorphism not causing disease	U
2650	Lesca, ... Pubmed: 17383248	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - sporadic mental retardation	Polymorphism not causing disease	U
2651	Lesca, ... Pubmed: 17383248	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - sporadic mental retardation	Polymorphism not causing disease	U
2663	Coutinho, ... Pubmed: 17427193	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - Autism	Polymorphism not causing disease	U
2764	Moog, ... Pubmed: 16376510	c.378-74C>T	intronic variation	intronic variation	intronic	Not Rett synd. - mental retardation	Polymorphism not causing disease	M
2765	Moog, ... Pubmed: 16376510	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - mental retardation	Polymorphism not causing disease	M
2766	Moog, ... Pubmed: 16376510	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - mental retardation	Polymorphism not causing disease	M
2780	Donzel-Javouhey, ... Pubmed: 16763963	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - non-specfic mental retardation	Polymorphism not causing disease	F
2786	Pan, ... Pubmed: 17026625	c.378-?_1337+?del	p.N126fs	exon deletion	MBD	Rett syndrome - classical	Mutation associated with disease	F
2788	Pan, ... Pubmed: 17026625	c.378-?_1185+?del	p.N126fs	exon deletion	MBD	Rett syndrome - classical	Mutation associated with disease	F
2792	Pan, ... Pubmed: 17026625	c.378-?_1337+?del	p.N126fs	exon deletion	MBD	Rett syndrome - classical	Mutation associated with disease	F
3325	Philippe C, ... Pubmed: 16473305	c.378-?_*?del	p.N126fs	exon deletion	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3326	Philippe C, ... Pubmed: 16473305	c.378-?_*?del	p.N126fs	exon deletion	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3327	Philippe C, ... Pubmed: 16473305	c.378-?_*?del	p.N126fs	exon deletion	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3328	Philippe C, ... Pubmed: 16473305	c.378-?_*?del	p.N126fs	exon deletion	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3329	Philippe C, ... Pubmed: 16473305	c.378-?_*?del	p.N126fs	exon deletion	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3330	Philippe C, ... Pubmed: 16473305	c.378-?_*?del	p.N126fs	exon deletion	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3351	Laccone, ... Pubmed: 14974082	c.378-?_*?del	p.N126fs	exon deletion	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3352	Laccone, ... Pubmed: 14974082	c.378-?_*?del	p.N126fs	exon deletion	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3594	Li, ... Pubmed: 17089071	c.378-2A>T	intronic variation	intronic variation	intronic	Rett syndrome - not certain	Mutation associated with disease	F
3618	Li, ... Pubmed: 17089071	c.378-?_1170+?del	p.N126fs	frameshift insertion or deletion	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3764	Fukuda, ... Pubmed: 15737703	c.378-3C>G	intronic variation	intronic variation	intronic	Rett syndrome - classical	Mutation associated with disease	F
3781	Archer HL, ... Pubmed: 16183801	c.378-?_*?del	p.N126fs	exon deletion	MBD	Rett syndrome - classical	Mutation associated with disease	F
3799	Khajuria R, ...	c.378-74C>T	intronic variation	intronic variation	intronic	Rett syndrome - classical	Polymorphism not causing disease	F
3827	Schule, ... Pubmed: 18477000	c.378-3_383del9	p.N126KfsX11	frameshift insertion or deletion	MBD	Not Rett synd. - Severe congenital encephalopathy	Mutation associated with disease	M
3918	Lesca, ... Pubmed: 17383248	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
3921	Lesca, ... Pubmed: 17383248	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
3922	Lesca, ... Pubmed: 17383248	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
3923	Lesca, ... Pubmed: 17383248	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
3924	Moog, ... Pubmed: 16376510	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	M
3925	Moog, ... Pubmed: 16376510	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	M
3926	Moog, ... Pubmed: 16376510	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	F
3927	Moog, ... Pubmed: 16376510	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	F
3928	Moog, ... Pubmed: 16376510	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	F
3931	Moog, ... Pubmed: 16376510	c.378-74C>T	intronic variation	intronic variation	intronic	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
3932	Moog, ... Pubmed: 16376510	c.378-74C>T	intronic variation	intronic variation	intronic	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
3976	Zahorakova, ... Pubmed: 17387578	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
3990	Coutinho, ... Pubmed: 17427193	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
3991	Coutinho, ... Pubmed: 17427193	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
3992	Coutinho, ... Pubmed: 17427193	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
3993	Coutinho, ... Pubmed: 17427193	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
3994	Coutinho, ... Pubmed: 17427193	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4349	Monnerat, ... Pubmed: 20031356	c.378-109A>G	intronic variation	intronic variation	intronic	Rett syndrome - Atypical	Polymorphism not causing disease	F
4350	Monnerat, ... Pubmed: 20031356	c.378-109A>G	intronic variation	intronic variation	intronic	Rett syndrome - Atypical	Polymorphism not causing disease	F
4351	Monnerat, ... Pubmed: 20031356	c.378-14G>A	intronic variation	intronic variation	intronic	Rett syndrome - Classical	Unknown	F
4352	Monnerat, ... Pubmed: 20031356	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
4353	Monnerat, ... Pubmed: 20031356	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	F
4354	Monnerat, ... Pubmed: 20031356	c.378-74C>T	intronic variation	intronic variation	intronic	Rett syndrome - Classical	Polymorphism not causing disease	F
4355	Monnerat, ... Pubmed: 20031356	c.378-74C>T	intronic variation	intronic variation	intronic	Rett syndrome - Classical	Polymorphism not causing disease	F
4356	Monnerat, ... Pubmed: 20031356	c.378-74C>T	intronic variation	intronic variation	intronic	Rett syndrome - Classical	Polymorphism not causing disease	F
4357	Monnerat, ... Pubmed: 20031356	c.378-74C>T	intronic variation	intronic variation	intronic	Rett syndrome - Classical	Polymorphism not causing disease	F
4358	Monnerat, ... Pubmed: 20031356	c.378-74C>T	intronic variation	intronic variation	intronic	Rett syndrome - Classical	Polymorphism not causing disease	F
4390	Monnerat, ... Pubmed: 20031356	c.378-109A>G	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	F
5082	Wang, ... Pubmed: 23591336	c.378-74C>T	intronic variation	intronic variation	intronic	Not Rett synd. - autism	Polymorphism not causing disease	M
5083	Wang, ... Pubmed: 23591336	c.378-74C>T	intronic variation	intronic variation	intronic	Not Rett synd. - autism	Polymorphism not causing disease	M
5084	Wang, ... Pubmed: 23591336	c.378-74C>T	intronic variation	intronic variation	intronic	Not Rett synd. - autism	Polymorphism not causing disease	M
5085	Wang, ... Pubmed: 23591336	c.378-74C>T	intronic variation	intronic variation	intronic	Not Rett synd. - autism	Polymorphism not causing disease	M
5086	Wang, ... Pubmed: 23591336	c.378-74C>T	intronic variation	intronic variation	intronic	Not Rett synd. - autism	Polymorphism not causing disease	M
5087	Wang, ... Pubmed: 23591336	c.378-74C>T	intronic variation	intronic variation	intronic	Not Rett synd. - autism	Polymorphism not causing disease	M
5088	Wang, ... Pubmed: 23591336	c.378-74C>T	intronic variation	intronic variation	intronic	Not Rett synd. - autism	Polymorphism not causing disease	M
5089	Wang, ... Pubmed: 23591336	c.378-74C>T	intronic variation	intronic variation	intronic	Not Rett synd. - autism	Polymorphism not causing disease	M
5090	Wang, ... Pubmed: 23591336	c.378-74C>T	intronic variation	intronic variation	intronic	Not Rett synd. - autism	Polymorphism not causing disease	M
5091	Wang, ... Pubmed: 23591336	c.378-74C>T	intronic variation	intronic variation	intronic	Not Rett synd. - autism	Polymorphism not causing disease	M
5092	Wang, ... Pubmed: 23591336	c.378-74C>T	intronic variation	intronic variation	intronic	Not Rett synd. - autism	Polymorphism not causing disease	M
5093	Wang, ... Pubmed: 23591336	c.378-74C>T	intronic variation	intronic variation	intronic	Not Rett synd. - autism	Polymorphism not causing disease	M
5094	Wang, ... Pubmed: 23591336	c.378-74C>T	intronic variation	intronic variation	intronic	Not Rett synd. - autism	Polymorphism not causing disease	M
5095	Wang, ... Pubmed: 23591336	c.378-74C>T	intronic variation	intronic variation	intronic	Not Rett synd. - autism	Polymorphism not causing disease	M
5096	Wang, ... Pubmed: 23591336	c.378-74C>T	intronic variation	intronic variation	intronic	Not Rett synd. - autism	Polymorphism not causing disease	M
5097	Wang, ... Pubmed: 23591336	c.378-74C>T	intronic variation	intronic variation	intronic	Not Rett synd. - autism	Polymorphism not causing disease	M
5098	Wang, ... Pubmed: 23591336	c.378-74C>T	intronic variation	intronic variation	intronic	Not Rett synd. - autism	Polymorphism not causing disease	M
5145	Maortua, ... Pubmed: 23810759	c.378-70C>G	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5146	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Rett syndrome - not certain	Polymorphism not causing disease	F
5147	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Rett syndrome - not certain	Polymorphism not causing disease	F
5148	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Rett syndrome - not certain	Polymorphism not causing disease	F
5149	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Rett syndrome - not certain	Polymorphism not causing disease	F
5150	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Rett syndrome - not certain	Polymorphism not causing disease	F
5151	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Rett syndrome - not certain	Polymorphism not causing disease	F
5152	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Rett syndrome - not certain	Polymorphism not causing disease	F
5153	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Rett syndrome - not certain	Polymorphism not causing disease	F
5154	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Rett syndrome - not certain	Polymorphism not causing disease	F
5155	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5156	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5157	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5158	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5159	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5160	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5161	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5162	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5163	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5164	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5165	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5166	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5167	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5168	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5169	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5170	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5171	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5172	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5173	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5174	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5175	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5176	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5177	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5178	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5179	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5180	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5181	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5182	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5183	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
5184	Maortua, ... Pubmed: 23810759	c.378-17delT	intronic variation	intronic variation	intronic	Not Rett synd. - normal control	Polymorphism not causing disease	U
6603	Directly submitted	c.378-2A>C	intronic variation	intronic variation	intronic	Rett syndrome - classical	Mutation associated with disease	F
6350	Directly submitted	c.378-3C>G	intronic variation	intronic variation	intronic	Rett syndrome - classical	Mutation associated with disease	F
6852	Daniela�Zahorakova, ... Pubmed: 26984561	c.378-17delT	intronic variation	intronic	intronic	Not Rett synd. - mental retardation	Polymorphism not causing disease	F
6851	Daniela�Zahorakova, ... Pubmed: 26984561	c.378-17delT	intronic variation	intronic	intronic	Not Rett synd. - autism	Polymorphism not causing disease	F
6850	Daniela�Zahorakova, ... Pubmed: 26984561	c.378-17delT	intronic variation	intronic	intronic	Not Rett synd. - autism	Polymorphism not causing disease	F
6849	Daniela�Zahorakova, ... Pubmed: 26984561	c.378-65C>G	intronic variation	intronic	intronic	Not Rett synd. - mental retardation	Polymorphism not causing disease	F
6848	Daniela�Zahorakova, ... Pubmed: 26984561	c.378-74C>T	intronic variation	intronic	intronic	Not Rett synd. - mental retardation	Polymorphism not causing disease	F
291	Auranen, ... Pubmed: 11245712	c.380C>T	p.P127L	Missense	MBD	Rett syndrome - Preserved speech	Unknown	F
2457	Directly submitted	c.380C>T	p.P127L	Missense	MBD	Rett syndrome - Classical	Unknown	F
3096	Philippe C, ... Pubmed: 16473305	c.380C>T	p.P127L	missense	MBD	Rett syndrome - not certain	Unknown	F
3426	Bienvenu T, ... Pubmed: 12180070	c.380C>T	p.P127L	missense	MBD	Rett syndrome - not certain	Unknown	F
4095	Milunsky, ... Pubmed: 11960578	c.380C>T	p.P127L	missense	MBD	Rett syndrome - classical	Unknown	F
3169	Philippe C, ... Pubmed: 16473305	c.382C>T	p.Q128X	nonsense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3258	Philippe C, ... Pubmed: 16473305	c.382_1189del808	p.Q128fs	frameshift insertion or deletion	MBD	Rett syndrome - not certain	Mutation associated with disease	F
4911	Kim, ... Pubmed: 22476991	c.382C>T	p.Q128X	nonsense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
2867	Smeets, ... Pubmed: 12966523	c.383A>C	p.Q128P	missense	MBD	Rett syndrome - late regression	Unknown	F
2137	Cardiff, ...	c.386G>T	p.G129V	Missense	MBD	Not known	Unknown	F
3528	Li, ... Pubmed: 17089071	c.386G>T	p.G129V	missense	MBD	Rett syndrome - not certain	Unknown	F
6636	Directly submitted	c.390dupA	p.A131fs	frameshift insertion or deletion	MBD	Rett syndrome - classical	Mutation associated with disease	F
3623	Fukuda, ... Pubmed: 15737703	c.392C>A	p.A131D	missense	MBD	Rett syndrome - classical	Unknown	F
6760	Daniela�Zahorakova, ... Pubmed: 26984561	c.392C>A	p.A131D	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
1639	Bunyan, ...	c.393C>G	p.A131A	Silent	MBD	Rett syndrome - Not certain	Silent polymorphism	F
2496	Tjitske Kleefstra, ... Pubmed: 14560307	c.393C>G	p.A131A	Silent	MBD	Not Rett synd. - Prader-Willi syndrome	Silent polymorphism	M
2664	Coutinho, ... Pubmed: 17427193	c.393C>G	p.A131A	silent	MBD	Not Rett synd. - Autism	Silent polymorphism	U
3995	Coutinho, ... Pubmed: 17427193	c.393C>G	p.A131A	silent	MBD	Not Rett synd. - non-Rett syndrome control	Silent polymorphism	U
7	Bunyan, ...	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
16	Bunyan, ...	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
56	Hoffbuhr, ... Pubmed: 11402105	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
57	Hoffbuhr, ... Pubmed: 11402105	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
105	Huppke, ... Pubmed: 10814718	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Preserved speech	Mutation associated with disease	F
156	Obata, ... Pubmed: 10991688	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Preserved speech	Mutation associated with disease	F
157	Obata, ... Pubmed: 10991688	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
158	Obata, ... Pubmed: 10991688	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
263	Trappe, ... Pubmed: 11309679	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
264	Trappe, ... Pubmed: 11309679	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
288	Trappe, ... Pubmed: 11309679	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
292	Auranen, ... Pubmed: 11245712	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
293	Auranen, ... Pubmed: 11245712	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
294	Auranen, ... Pubmed: 11245712	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
355	Directly submitted	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
377	Directly submitted	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
380	Directly submitted	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
383	Directly submitted	c.397C>T	p.R133C	Missense	MBD	Not known	Mutation associated with disease	F
400	Directly submitted	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
411	Directly submitted	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
418	Directly submitted	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
451	Directly submitted	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
880	Directly submitted	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Forme fruste	Mutation associated with disease	U
881	Directly submitted	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Preserved speech	Mutation associated with disease	U
866	Xiang, ... Pubmed: 10745042	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
839	Amir, ... Pubmed: 10508514	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	U
1030	Buyse, ... Pubmed: 11055898	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1175	Zappella, ... Pubmed: 11746022	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Preserved speech	Mutation associated with disease	F
1176	Zappella, ... Pubmed: 11746022	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Preserved speech	Mutation associated with disease	F
1219	Chae, ... Pubmed: 11913567	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1224	Erlandson, ... Pubmed: 11469283	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1280	Laccone, ... Pubmed: 11241840	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
1281	Laccone, ... Pubmed: 11241840	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
1282	Laccone, ... Pubmed: 11241840	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
1283	Laccone, ... Pubmed: 11241840	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
1284	Laccone, ... Pubmed: 11241840	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
1285	Laccone, ... Pubmed: 11241840	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
1395	Nicolao, ... Pubmed: 11462237	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1438	Vacca, ... Pubmed: 11269512	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1439	Vacca, ... Pubmed: 11269512	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1440	Vacca, ... Pubmed: 11269512	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1504	Yamada, ... Pubmed: 11524741	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - atypical	Mutation associated with disease	U
1505	Yamada, ... Pubmed: 11524741	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - atypical	Mutation associated with disease	U
1610	Bunyan, ...	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1624	Bunyan, ...	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1628	Bunyan, ...	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1644	Bunyan, ...	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1675	Friez, ...	c.397C>T	p.R133C	Missense	MBD	Not known	Mutation associated with disease	F
1704	Friez, ...	c.397C>T	p.R133C	Missense	MBD	Not known	Mutation associated with disease	F
1708	Friez, ...	c.397C>T	p.R133C	Missense	MBD	Not known	Mutation associated with disease	F
1712	Friez, ...	c.397C>T	p.R133C	Missense	MBD	Not known	Mutation associated with disease	F
1719	Friez, ...	c.397C>T	p.R133C	Missense	MBD	Not known	Mutation associated with disease	F
1725	Friez, ...	c.397C>T	p.R133C	Missense	MBD	Not known	Mutation associated with disease	F
1743	Friez, ...	c.397C>T	p.R133C	Missense	MBD	Not known	Mutation associated with disease	F
1767	Friez, ...	c.397C>T	p.R133C	Missense	MBD	Not known	Mutation associated with disease	F
1770	Friez, ...	c.397C>T	p.R133C	Missense	MBD	Not known	Mutation associated with disease	F
1798	Friez, ...	c.397C>G	p.R133G	Missense	MBD	Not known	Unknown	F
1806	Friez, ...	c.397C>T	p.R133C	Missense	MBD	Not known	Mutation associated with disease	F
1813	Friez, ...	c.397C>T	p.R133C	Missense	MBD	Not known	Mutation associated with disease	F
1816	Friez, ...	c.397C>T	p.R133C	Missense	MBD	Not known	Mutation associated with disease	F
1869	Bunyan, ...	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1961	Schanen, ... Pubmed: 15057977	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
1997	Tatsuo Masuyama, ... Pubmed: 16122633	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	M
1998	Tatsuo Masuyama, ... Pubmed: 16122633	c.397C>T	p.R133C	Missense	MBD	Not Rett synd. - Sporadic mental retardation	Mutation associated with disease	F
1999	Tatsuo Masuyama, ... Pubmed: 16122633	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2013	Directly submitted	c.397C>T	p.R133C	Missense	MBD	Not known	Mutation associated with disease	F
2028	Directly submitted	c.397C>T	p.R133C	Missense	MBD	Not known	Mutation associated with disease	F
2038	Directly submitted	c.397C>T	p.R133C	Missense	MBD	Not known	Mutation associated with disease	F
2208	Cardiff, ...	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2209	Cardiff, ...	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
2210	Cardiff, ...	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2211	Cardiff, ...	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
2212	Cardiff, ...	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
2213	Cardiff, ...	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
2214	Cardiff, ...	c.397C>T	p.R133C	Missense	MBD	Not Rett synd. - Unaffected family member	Mutation associated with disease	F
2215	Cardiff, ...	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2216	Cardiff, ...	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
2217	Cardiff, ...	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
2218	Cardiff, ...	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2219	Cardiff, ...	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
2220	Cardiff, ...	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	M
2221	Cardiff, ...	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2222	Cardiff, ...	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2223	Cardiff, ...	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2224	Cardiff, ...	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2389	Michele Zappella, ... Pubmed: 12707946	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Preserved speech	Mutation associated with disease	F
2399	Monros, ... Pubmed: 11738885	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2411	Monros, ... Pubmed: 11738885	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2430	Directly submitted	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2447	Monros, ... Pubmed: 11738885	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Preserved speech	Mutation associated with disease	F
2475	Directly submitted	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2482	Directly submitted	c.397C>T	p.R133C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2491	Tjitske Kleefstra, ... Pubmed: 14560307	c.397C>T	p.R133C	Missense	MBD	Not Rett synd. - Angelman syndrome	Mutation associated with disease	F
2539	Matijevic, ... Pubmed: 17341617	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
2571	Zahorakova, ... Pubmed: 17387578	c.397C>T	p.R133C	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2572	Zahorakova, ... Pubmed: 17387578	c.397C>T	p.R133C	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2573	Zahorakova, ... Pubmed: 17387578	c.397C>T	p.R133C	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2574	Zahorakova, ... Pubmed: 17387578	c.397C>T	p.R133C	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2575	Zahorakova, ... Pubmed: 17387578	c.397C>T	p.R133C	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2576	Zahorakova, ... Pubmed: 17387578	c.397C>T	p.R133C	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2805	Kim, ... Pubmed: 16672765	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
2806	Kim, ... Pubmed: 16672765	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
2856	Conforti, ... Pubmed: 12567420	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
2868	Smeets, ... Pubmed: 12966523	c.397C>T	p.R133C	missense	MBD	Rett syndrome - forme fruste	Mutation associated with disease	F
2869	Smeets, ... Pubmed: 12966523	c.397C>T	p.R133C	missense	MBD	Rett syndrome - forme fruste	Mutation associated with disease	F
2870	Smeets, ... Pubmed: 12966523	c.397C>T	p.R133C	missense	MBD	Rett syndrome - forme fruste	Mutation associated with disease	F
2892	Djarmati, ... Pubmed: 17986102	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
2931	Kammoun, ... Pubmed: 15173251	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
2932	Kammoun, ... Pubmed: 15173251	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
2933	Kammoun, ... Pubmed: 15173251	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
2954	Kammoun, ... Pubmed: 15173251	c.397C>T	p.R133C	missense	MBD	Rett syndrome - atypical	Mutation associated with disease	F
2955	Kammoun, ... Pubmed: 15173251	c.397C>T	p.R133C	missense	MBD	Rett syndrome - atypical	Mutation associated with disease	F
2995	Pan, ... Pubmed: 12111643	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3097	Philippe C, ... Pubmed: 16473305	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3098	Philippe C, ... Pubmed: 16473305	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3099	Philippe C, ... Pubmed: 16473305	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3100	Philippe C, ... Pubmed: 16473305	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3101	Philippe C, ... Pubmed: 16473305	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3102	Philippe C, ... Pubmed: 16473305	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3103	Philippe C, ... Pubmed: 16473305	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3104	Philippe C, ... Pubmed: 16473305	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3105	Philippe C, ... Pubmed: 16473305	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3106	Philippe C, ... Pubmed: 16473305	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3107	Philippe C, ... Pubmed: 16473305	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3108	Philippe C, ... Pubmed: 16473305	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3109	Philippe C, ... Pubmed: 16473305	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3110	Philippe C, ... Pubmed: 16473305	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3366	Nielsen JB, ... Pubmed: 11313756	c.397C>T	p.R133C	missense	MBD	Rett syndrome - forme fruste	Mutation associated with disease	F
3385	Nielsen JB, ... Pubmed: 11738879	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3393	Yamashita Y, ... Pubmed: 11738864	c.397C>T	p.R133C	missense	MBD	Rett syndrome - preserved speech	Mutation associated with disease	F
3394	Yamashita Y, ... Pubmed: 11738864	c.397C>T	p.R133C	missense	MBD	Rett syndrome - preserved speech	Mutation associated with disease	F
3427	Bienvenu T, ... Pubmed: 12180070	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3428	Bienvenu T, ... Pubmed: 12180070	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3429	Bienvenu T, ... Pubmed: 12180070	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3430	Bienvenu T, ... Pubmed: 12180070	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3431	Bienvenu T, ... Pubmed: 12180070	c.397C>G	p.R133G	missense	MBD	Rett syndrome - not certain	Unknown	F
3529	Li, ... Pubmed: 17089071	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3530	Li, ... Pubmed: 17089071	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3531	Li, ... Pubmed: 17089071	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3532	Li, ... Pubmed: 17089071	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3533	Li, ... Pubmed: 17089071	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3534	Li, ... Pubmed: 17089071	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3535	Li, ... Pubmed: 17089071	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3634	Fukuda, ... Pubmed: 15737703	c.397C>T	p.R133C	missense	MBD	Rett syndrome - atypical	Mutation associated with disease	F
3635	Fukuda, ... Pubmed: 15737703	c.397C>T	p.R133C	missense	MBD	Rett syndrome - atypical	Mutation associated with disease	F
3636	Fukuda, ... Pubmed: 15737703	c.397C>T	p.R133C	missense	MBD	Rett syndrome - atypical	Mutation associated with disease	F
3637	Fukuda, ... Pubmed: 15737703	c.397C>T	p.R133C	missense	MBD	Rett syndrome - atypical	Mutation associated with disease	F
3638	Fukuda, ... Pubmed: 15737703	c.397C>T	p.R133C	missense	MBD	Rett syndrome - preserved speech	Mutation associated with disease	F
3639	Fukuda, ... Pubmed: 15737703	c.397C>T	p.R133C	missense	MBD	Rett syndrome - preserved speech	Mutation associated with disease	F
3640	Fukuda, ... Pubmed: 15737703	c.397C>T	p.R133C	missense	MBD	Rett syndrome - preserved speech	Mutation associated with disease	F
3641	Fukuda, ... Pubmed: 15737703	c.397C>T	p.R133C	missense	MBD	Rett syndrome - preserved speech	Mutation associated with disease	F
3642	Fukuda, ... Pubmed: 15737703	c.397C>T	p.R133C	missense	MBD	Rett syndrome - preserved speech	Mutation associated with disease	F
3643	Fukuda, ... Pubmed: 15737703	c.397C>T	p.R133C	missense	MBD	Rett syndrome - preserved speech	Mutation associated with disease	F
3644	Fukuda, ... Pubmed: 15737703	c.397C>T	p.R133C	missense	MBD	Rett syndrome - preserved speech	Mutation associated with disease	F
3790	Inui, ... Pubmed: 11376998	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
4062	Lee SSJ, ... Pubmed: 11738860	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
4117	Milunsky, ... Pubmed: 11960578	c.397C>T	p.R133C	missense	MBD	Not known	Mutation associated with disease	F
4118	Milunsky, ... Pubmed: 11960578	c.397C>T	p.R133C	missense	MBD	Not known	Mutation associated with disease	F
4119	Milunsky, ... Pubmed: 11960578	c.397C>T	p.R133C	missense	MBD	Not known	Mutation associated with disease	F
4120	Milunsky, ... Pubmed: 11960578	c.397C>T	p.R133C	missense	MBD	Not known	Mutation associated with disease	F
4121	Milunsky, ... Pubmed: 11960578	c.397C>T	p.R133C	missense	MBD	Not known	Mutation associated with disease	F
4248	de Lima, ... Pubmed: 19722030	c.397C>T	p.R133C	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
4314	Raizis, ... Pubmed: 19652677	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
4359	Monnerat, ... Pubmed: 20031356	c.397C>T	p.R133C	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
4360	Monnerat, ... Pubmed: 20031356	c.397C>T	p.R133C	missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
4361	Monnerat, ... Pubmed: 20031356	c.397C>T	p.R133C	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
4429	Das, ...	c.397C>T	p.R133C	missense	MBD	Not known	Mutation associated with disease	F
4430	Das, ...	c.397C>T	p.R133C	missense	MBD	Not known	Mutation associated with disease	F
4431	Das, ...	c.397C>T	p.R133C	missense	MBD	Not known	Mutation associated with disease	F
4432	Das, ...	c.397C>T	p.R133C	missense	MBD	Not known	Mutation associated with disease	F
4433	Das, ...	c.397C>T	p.R133C	missense	MBD	Not known	Mutation associated with disease	F
4434	Das, ...	c.397C>T	p.R133C	missense	MBD	Not known	Mutation associated with disease	F
4435	Das, ...	c.397C>T	p.R133C	missense	MBD	Not known	Mutation associated with disease	F
4436	Das, ...	c.397C>T	p.R133C	missense	MBD	Not known	Mutation associated with disease	F
4732	Hadzsiev, ... Pubmed: 21160487	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
4733	Hadzsiev, ... Pubmed: 21160487	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
4734	Hadzsiev, ... Pubmed: 21160487	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
4735	Hadzsiev, ... Pubmed: 21160487	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
4809	Corbani, ... Pubmed: 21954873	c.397C>T	p.R133C	missense	MBD	Rett syndrome - atypical	Mutation associated with disease	F
4832	Psoni, ... Pubmed: 21982064	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
4833	Psoni, ... Pubmed: 21982064	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
4834	Psoni, ... Pubmed: 21982064	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
4835	Psoni, ... Pubmed: 21982064	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
4865	Zvereff, ... Pubmed: 22277191	c.397C>T	p.R133C	missense	MBD	Rett syndrome - preserved speech	Mutation associated with disease	F
4917	Kim, ... Pubmed: 22476991	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
5045	Das, ... Pubmed: 23262346	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
5046	Das, ... Pubmed: 23262346	c.397C>T	p.R133C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
5123	Maortua, ... Pubmed: 23810759	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6729	Daniela�Zahorakova, ... Pubmed: 26984561	c.397C>T	p.R133C	missense	MBD	Not known - x-linked mental retardation	Mutation associated with disease	F
6727	Daniela�Zahorakova, ... Pubmed: 26984561	c.397C>T	p.R133C	missense	MBD	Rett syndrome - preserved speech	Mutation associated with disease	F
6728	Daniela�Zahorakova, ... Pubmed: 26984561	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6601	Directly submitted	c.397C>T	p.R133C	missense	MBD	Not Rett synd. - mental retardation	Mutation associated with disease	F
6600	Directly submitted	c.397C>T	p.R133C	missense	MBD	Not Rett synd. - mental retardation	Mutation associated with disease	M
6563	Directly submitted	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6562	Directly submitted	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6561	Directly submitted	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6560	Directly submitted	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6559	Directly submitted	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6558	Directly submitted	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6557	Directly submitted	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6556	Directly submitted	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6555	Directly submitted	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6554	Directly submitted	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6553	Directly submitted	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6552	Directly submitted	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6551	Directly submitted	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6550	Directly submitted	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6549	Directly submitted	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6548	Directly submitted	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6547	Directly submitted	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6546	Directly submitted	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6545	Directly submitted	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6544	Directly submitted	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6543	Directly submitted	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6542	Directly submitted	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6541	Directly submitted	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6540	Directly submitted	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6539	Directly submitted	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6538	Directly submitted	c.397C>T	p.R133C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6994	Qingping Zhang, ... Pubmed: 28394482	c.397C > T		missense	MBD	Rett syndrome - preserved speech	Mutation associated with disease	F
6995	Qingping Zhang, ... Pubmed: 28394482	c.397C > T		missense	MBD	Not Rett synd. - x-linked mental retardation	Mutation associated with disease	M
6997	Qingping Zhang, ... Pubmed: 28394482	c.397C > T		missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
29	Hoffbuhr, ... Pubmed: 11402105	c.398G>A	p.R133H	Missense	MBD	Rett syndrome - Not certain	Unknown	F
329	De Bona, ... Pubmed: 10854091	c.398G>T	p.R133L	Missense	MBD	Rett syndrome - Classical	Unknown	F
433	Directly submitted	c.398G>A	p.R133H	Missense	MBD	Rett syndrome - Atypical	Unknown	F
2226	Cardiff, ...	c.398G>A	p.R133H	Missense	MBD	Rett syndrome - Classical	Unknown	F
3111	Philippe C, ... Pubmed: 16473305	c.398G>A	p.R133H	missense	MBD	Rett syndrome - not certain	Unknown	F
3432	Bienvenu T, ... Pubmed: 12180070	c.398G>A	p.R133H	missense	MBD	Rett syndrome - not certain	Unknown	F
3536	Li, ... Pubmed: 17089071	c.398G>A	p.R133H	missense	MBD	Rett syndrome - not certain	Unknown	F
3537	Li, ... Pubmed: 17089071	c.398G>A	p.R133H	missense	MBD	Rett syndrome - not certain	Unknown	F
5112	Directly submitted	c.398G>A	p.R133H	missense	MBD	Rett syndrome - atypical	Unknown	F
6576	Directly submitted	c.398G>C	p.R133P	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
4247	de Lima, ... Pubmed: 19722030	c.400T>C	p.S134P	missense	MBD	Rett syndrome - Classical	Unknown	F
106	Huppke, ... Pubmed: 10814718	c.401C>G	p.S134C	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
159	Obata, ... Pubmed: 10991688	c.401C>G	p.S134C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
361	Directly submitted	c.401C>G	p.S134C	Missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
1441	Vacca, ... Pubmed: 11269512	c.401C>G	p.S134C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1460	Vacca, ... Pubmed: 11269512	c.401C>G	p.S134C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1631	Bunyan, ...	c.401C>G	p.S134C	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1669	Sarojini S. Budden, ... Pubmed: 16182490	c.401C>G	p.S134C	Missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
1672	Sarojini S. Budden, ... Pubmed: 16182490	c.401C>G	p.S134C	Missense	MBD	Not Rett synd. - Unaffected family member	Mutation associated with disease	F
1673	Sarojini S. Budden, ... Pubmed: 16182490	c.401C>G	p.S134C	Missense	MBD	Rett syndrome - Male variant	Mutation associated with disease	M
1740	Friez, ...	c.401C>T	p.S134F	Missense	MBD	Not known	Unknown	F
1805	Friez, ...	c.401C>G	p.S134C	Missense	MBD	Not known	Mutation associated with disease	F
2333	Cardiff, ...	c.401C>G	p.S134C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2334	Cardiff, ...	c.401C>G	p.S134C	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2577	Zahorakova, ... Pubmed: 17387578	c.401C>G	p.S134C	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2986	Chae, ... Pubmed: 15526954	c.401C>T	p.S134F	missense	MBD	Rett syndrome - classical	Unknown	F
3079	Giunti L, ... Pubmed: 11738883	c.401C>G	p.S134C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3397	Yamashita Y, ... Pubmed: 11738864	c.401C>G	p.S134C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3538	Li, ... Pubmed: 17089071	c.401C>G	p.S134C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3624	Fukuda, ... Pubmed: 15737703	c.401C>T	p.S134F	missense	MBD	Rett syndrome - classical	Unknown	F
3645	Fukuda, ... Pubmed: 15737703	c.401C>G	p.S134C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
4437	Das, ...	c.401C>G	p.S134C	missense	MBD	Not known	Mutation associated with disease	F
4737	Hadzsiev, ... Pubmed: 21160487	c.401C>T	p.S134F	missense	MBD	Rett syndrome - not certain	Unknown	F
4738	Hadzsiev, ... Pubmed: 21160487	c.401C>G	p.S134C	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
6596	Directly submitted	c.401C>G	p.S134C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6595	Directly submitted	c.401C>G	p.S134C	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6594	Directly submitted	c.401C>T	p.S134F	missense	MBD	Rett syndrome - classical	Unknown	F
1286	Laccone, ... Pubmed: 11241840	c.403A>G	p.K135E	Missense	MBD	Rett syndrome - Not certain	Unknown	U
1287	Laccone, ... Pubmed: 11241840	c.403A>G	p.K135E	Missense	MBD	Rett syndrome - Not certain	Unknown	U
2578	Zahorakova, ... Pubmed: 17387578	c.403A>G	p.K135E	missense	MBD	Rett syndrome - Classical	Unknown	F
2934	Kammoun, ... Pubmed: 15173251	c.403A>G	p.K135E	missense	MBD	Rett syndrome - classical	Unknown	F
3112	Philippe C, ... Pubmed: 16473305	c.403A>G	p.K135E	missense	MBD	Rett syndrome - not certain	Unknown	F
3433	Bienvenu T, ... Pubmed: 12180070	c.403A>G	p.K135E	missense	MBD	Rett syndrome - not certain	Unknown	F
4096	Milunsky, ... Pubmed: 11960578	c.403A>G	p.K135E	missense	MBD	Rett syndrome - classical	Unknown	F
6618	Directly submitted	c.403A>G	p.K135E	missense	MBD	Rett syndrome - preserved speech	Unknown	F
4866	Zvereff, ... Pubmed: 22277191	c.409_1158del	p.E137_L386del	in-frame insertion or deletion	MBD, inter-domain region, TRD, TRD-NLS, C-term	Rett syndrome - classical	Mutation associated with disease	F
1012	Couvert, ... Pubmed: 11309367	c.410A>G	p.E137G	Missense	MBD	Not Rett synd. - X-linked mental retardation	Mutation associated with disease	M
1484	Wan, ... Pubmed: 10577905	c.411delG	p.E137fs	Frameshift insertion or deletion	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
3170	Philippe C, ... Pubmed: 16473305	c.413T>A	p.L138X	nonsense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
4394	Khajuria, ...	c.413T>C	p.L138S	missense	MBD	Rett syndrome - classical	Unknown	F
218	Orrico, ... Pubmed: 11007980	c.419C>T	p.A140V	Missense	MBD	Not Rett synd. - X-linked mental retardation	Unknown	F
219	Orrico, ... Pubmed: 11007980	c.419C>T	p.A140V	Missense	MBD	Not Rett synd. - X-linked mental retardation	Unknown	F
220	Orrico, ... Pubmed: 11007980	c.419C>T	p.A140V	Missense	MBD	Not Rett synd. - X-linked mental retardation	Unknown	M
221	Orrico, ... Pubmed: 11007980	c.419C>T	p.A140V	Missense	MBD	Not Rett synd. - X-linked mental retardation	Unknown	M
222	Orrico, ... Pubmed: 11007980	c.419C>T	p.A140V	Missense	MBD	Not Rett synd. - X-linked mental retardation	Unknown	M
223	Orrico, ... Pubmed: 11007980	c.419C>T	p.A140V	Missense	MBD	Not Rett synd. - X-linked mental retardation	Unknown	M
1014	Couvert, ... Pubmed: 11309367	c.419C>T	p.A140V	Missense	MBD	Not Rett synd. - X-linked mental retardation	Unknown	M
1015	Couvert, ... Pubmed: 11309367	c.419C>T	p.A140V	Missense	MBD	Not Rett synd. - X-linked mental retardation	Unknown	M
1265	Klauck, ... Pubmed: 11885030	c.419C>T	p.A140V	Missense	MBD	Not Rett synd. - Unaffected family member	Unknown	F
1266	Klauck, ... Pubmed: 11885030	c.419C>T	p.A140V	Missense	MBD	Not Rett synd. - X-linked mental retardation	Unknown	M
1267	Klauck, ... Pubmed: 11885030	c.419C>T	p.A140V	Missense	MBD	Not Rett synd. - Unaffected family member	Unknown	F
1268	Klauck, ... Pubmed: 11885030	c.419C>T	p.A140V	Missense	MBD	Not Rett synd. - X-linked mental retardation, manic-depressive illness	Unknown	M
1269	Klauck, ... Pubmed: 11885030	c.419C>T	p.A140V	Missense	MBD	Not Rett synd. - X-linked mental retardation, manic-depressive illness	Unknown	M
1270	Klauck, ... Pubmed: 11885030	c.419C>T	p.A140V	Missense	MBD	Not Rett synd. - X-linked mental retardation	Unknown	M
1271	Klauck, ... Pubmed: 11885030	c.419C>T	p.A140V	Missense	MBD	Not Rett synd. - Unaffected family member	Unknown	F
1272	Klauck, ... Pubmed: 11885030	c.419C>T	p.A140V	Missense	MBD	Not Rett synd. - X-linked mental retardation, manic-depressive illness	Unknown	M
1966	Cohen, ... Pubmed: 11772708	c.419C>T	p.A140V	Missense	MBD	Not Rett synd. - Developmental receptive language disorder, childhood-onset schizophrenia	Unknown	M
1967	Cohen, ... Pubmed: 11772708	c.419C>T	p.A140V	Missense	MBD	Not Rett synd. - Unaffected family member	Unknown	F
5302	Venkateswaran, ... Pubmed: 24328834	c.419C>T	p.A140V	missense	MBD	Not Rett synd. - late onset cognitive regression, parkinsonism, neuropsychiatric symptoms	Unknown	F
4093	Parmeggiani, ... Pubmed: 19189931	c.419C>T	p.A140V	missense	MBD	Not Rett synd. - mental retardation	Unknown	F
4398	Winnepenninckx, ... Pubmed: 12325019	c.419C>T	p.A140V	missense	MBD	Not Rett synd. - x-linked mental retardation	Unknown	M
4399	Winnepenninckx, ... Pubmed: 12325019	c.419C>T	p.A140V	missense	MBD	Not Rett synd. - x-linked mental retardation	Unknown	M
4400	Winnepenninckx, ... Pubmed: 12325019	c.419C>T	p.A140V	missense	MBD	Not Rett synd. - x-linked mental retardation	Unknown	M
4401	Winnepenninckx, ... Pubmed: 12325019	c.419C>T	p.A140V	missense	MBD	Not Rett synd. - x-linked mental retardation	Unknown	M
4402	Winnepenninckx, ... Pubmed: 12325019	c.419C>T	p.A140V	missense	MBD	Not Rett synd. - unaffected family member	Unknown	F
4403	Winnepenninckx, ... Pubmed: 12325019	c.419C>T	p.A140V	missense	MBD	Not Rett synd. - unaffected family member	Unknown	F
4404	Winnepenninckx, ... Pubmed: 12325019	c.419C>T	p.A140V	missense	MBD	Not Rett synd. - unaffected family member	Unknown	F
4405	Winnepenninckx, ... Pubmed: 12325019	c.419C>T	p.A140V	missense	MBD	Not Rett synd. - unaffected family member	Unknown	F
6913	Directly submitted	c.419C>T	p.Ala140Val	missense	MBD	Not Rett synd. - x-linked mental retardation	Mutation associated with disease	M
4362	Monnerat, ... Pubmed: 20031356	c.420delG	p.Y141fs	frameshift insertion or deletion	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1561	Carson, ...	c.422dupA	p.Y141X	Frameshift insertion or deletion	MBD	Not known	Mutation associated with disease	F
2519	Tejada M-I, ... Pubmed: 16879196	c.422A>G	p.Y141C	Missense	MBD	Rett syndrome - Atypical	Unknown	F
2956	Kammoun, ... Pubmed: 15173251	c.422A>G	p.Y141C	missense	MBD	Rett syndrome - atypical	Unknown	F
3113	Philippe C, ... Pubmed: 16473305	c.422A>G	p.Y141C	missense	MBD	Rett syndrome - not certain	Unknown	F
3114	Philippe C, ... Pubmed: 16473305	c.422A>G	p.Y141C	missense	MBD	Rett syndrome - not certain	Unknown	F
3115	Philippe C, ... Pubmed: 16473305	c.422A>G	p.Y141C	missense	MBD	Rett syndrome - not certain	Unknown	F
330	De Bona, ... Pubmed: 10854091	c.423C>G	p.Y141X	Nonsense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
882	Directly submitted	c.423C>G	p.Y141X	Nonsense	MBD	Rett syndrome - Classical	Mutation associated with disease	U
883	Directly submitted	c.423C>G	p.Y141X	Nonsense	MBD	Rett syndrome - Classical	Mutation associated with disease	U
1063	Buyse, ... Pubmed: 11055898	c.423C>G	p.Y141X	Nonsense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1154	Watson, ... Pubmed: 11283202	c.423C>G	p.Y141X	Nonsense	MBD	Not Rett synd. - Angelman syndrome	Mutation associated with disease	F
1461	Vacca, ... Pubmed: 11269512	c.423C>G	p.Y141X	Nonsense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1521	Yamada, ... Pubmed: 11524741	c.423C>G	p.Y141X	Nonsense	MBD	Rett syndrome - classical	Mutation associated with disease	U
2416	Directly submitted	c.423C>G	p.Y141X	Nonsense	MBD	Rett syndrome - Preserved speech	Mutation associated with disease	F
2579	Zahorakova, ... Pubmed: 17387578	c.423C>G	p.Y141X	nonsense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
3050	Giunti L, ... Pubmed: 11738883	c.423C>G	p.Y141X	nonsense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3377	Nielsen JB, ... Pubmed: 11313756	c.423C>G	p.Y141X	nonsense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3378	Nielsen JB, ... Pubmed: 11313756	c.423C>G	p.Y141X	nonsense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3539	Li, ... Pubmed: 17089071	c.423C>G	p.Y141X	nonsense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3687	Fukuda, ... Pubmed: 15737703	c.423C>G	p.Y141X	nonsense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6592	Directly submitted	c.423C>G	p.Y141X	nonsense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6593	Directly submitted	c.423C>G	p.Y141X	nonsense	MBD	Rett syndrome - classical	Mutation associated with disease	F
45	Hoffbuhr, ... Pubmed: 11402105	c.426C>T	p.F142F	Silent	MBD	Rett syndrome - Not certain	Silent polymorphism	F
364	Weaving, ... Pubmed: 15492925	c.426C>T	p.F142F	Silent	MBD	Rett syndrome - Atypical	Silent polymorphism	F
365	Weaving, ... Pubmed: 15492925	c.426C>T	p.F142F	Silent	MBD	Not Rett synd. - Unaffected family member	Silent polymorphism	F
1885	Directly submitted	c.426C>T	p.F142F	Silent	MBD	Not Rett synd. - Sporadic mental retardation	Silent polymorphism	M
2505	Weaving, ... Pubmed: 15492925	c.426C>T	p.F142F	Silent	MBD	Not Rett synd. - Unaffected family member	Silent polymorphism	F
2506	Weaving, ... Pubmed: 15492925	c.426C>T	p.F142F	Silent	MBD	Not Rett synd. - Unaffected family member	Silent polymorphism	F
4622	Piton, ... Pubmed: 20479760	c.426C>T	p.F142F	silent	MBD	Not Rett synd. - autism spectrum disorder	Silent polymorphism	U
6907	Directly submitted	c.426C>T	p.Phe142Phe	missense	MBD	Not Rett synd. - not certain	Silent polymorphism	M
7032	Tsutomu Shioda , ... Pubmed: 29631775	c.427G>A		missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
1641	Bunyan, ...	c.428_429insT	p.E143fs	Frameshift insertion or deletion	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1064	Buyse, ... Pubmed: 11055898	c.430A>T	p.K144X	Nonsense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
2580	Zahorakova, ... Pubmed: 17387578	c.430A>T	p.K144X	nonsense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
331	De Bona, ... Pubmed: 10854091	c.431delA	p.K144fs	Frameshift insertion or deletion	MBD	Rett syndrome - Classical	Mutation associated with disease	F
5185	Maortua, ... Pubmed: 23810759	c.431A>G	p.K144R	missense	MBD	Not Rett synd. - normal control	Polymorphism not causing disease	F
254	Bourdon, ... Pubmed: 11214906	c.439delG	p.D147fs	Frameshift insertion or deletion	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
4044	Schollen, ... Pubmed: 12872251	c.439G>A	p.D147N	missense	MBD	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
7000	Qingping Zhang, ... Pubmed: 28394482	c.441C > G		missense	MBD	Not Rett synd. - x-linked mental retardation	Unknown	M
7001	Qingping Zhang, ... Pubmed: 28394482	c.441C > G		missense	MBD	Not Rett synd. - x-linked mental retardation	Unknown	M
1526	Yamada, ... Pubmed: 11524741	c.451delG	p.D151fs	Frameshift insertion or deletion	MBD	Rett syndrome - atypical	Mutation associated with disease	U
2958	Kammoun, ... Pubmed: 15173251	c.452A>G	p.D151G	missense	MBD	Rett syndrome - atypical	Unknown	F
3434	Bienvenu T, ... Pubmed: 12180070	c.452A>G	p.D151G	missense	MBD	Rett syndrome - not certain	Unknown	F
3856	Adegbola, ... Pubmed: 18989701	c.454C>G	p.P152A	missense	MBD	Not Rett synd. - Pervasive developmental disorder-not otherwise specified	Mutation associated with disease	F
3857	Adegbola, ... Pubmed: 18989701	c.454C>G	p.P152A	missense	MBD	Not Rett synd. - Not specified	Mutation associated with disease	M
5	Bunyan, ...	c.455C>G	p.P152R	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
58	Hoffbuhr, ... Pubmed: 11402105	c.455C>G	p.P152R	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
59	Hoffbuhr, ... Pubmed: 11402105	c.455C>G	p.P152R	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
60	Hoffbuhr, ... Pubmed: 11402105	c.455C>G	p.P152R	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
107	Huppke, ... Pubmed: 10814718	c.455C>G	p.P152R	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
160	Obata, ... Pubmed: 10991688	c.455C>G	p.P152R	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
161	Obata, ... Pubmed: 10991688	c.455C>G	p.P152R	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
162	Obata, ... Pubmed: 10991688	c.455C>G	p.P152R	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
265	Trappe, ... Pubmed: 11309679	c.455C>G	p.P152R	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
362	Directly submitted	c.455C>G	p.P152R	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
419	Directly submitted	c.455C>G	p.P152R	Missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
426	Directly submitted	c.455C>G	p.P152R	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1031	Buyse, ... Pubmed: 11055898	c.455C>G	p.P152R	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1225	Erlandson, ... Pubmed: 11469283	c.455C>G	p.P152R	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1288	Laccone, ... Pubmed: 11241840	c.455C>G	p.P152R	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
1289	Laccone, ... Pubmed: 11241840	c.455C>G	p.P152R	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
1290	Laccone, ... Pubmed: 11241840	c.455C>G	p.P152R	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
1291	Laccone, ... Pubmed: 11241840	c.455C>G	p.P152R	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
1396	Nicolao, ... Pubmed: 11462237	c.455C>G	p.P152R	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1462	Vacca, ... Pubmed: 11269512	c.455C>G	p.P152R	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1764	Friez, ...	c.455C>G	p.P152R	Missense	MBD	Not known	Mutation associated with disease	F
1793	Friez, ...	c.455C>G	p.P152R	Missense	MBD	Not known	Mutation associated with disease	F
2170	Cardiff, ...	c.455C>G	p.P152R	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2171	Cardiff, ...	c.455C>G	p.P152R	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2172	Cardiff, ...	c.455C>G	p.P152R	Missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
2407	Monros, ... Pubmed: 11738885	c.455C>G	p.P152R	Missense	MBD	Rett syndrome - Preserved speech	Mutation associated with disease	F
2423	Directly submitted	c.455C>G	p.P152R	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2461	Directly submitted	c.455C>G	p.P152R	Missense	MBD	Rett syndrome - Congenital onset	Mutation associated with disease	F
2468	Directly submitted	c.455C>G	p.P152R	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2581	Zahorakova, ... Pubmed: 17387578	c.455C>G	p.P152R	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2871	Smeets, ... Pubmed: 12966523	c.455C>G	p.P152R	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
2872	Smeets, ... Pubmed: 12966523	c.455C>G	p.P152R	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
2957	Kammoun, ... Pubmed: 15173251	c.455C>G	p.P152R	missense	MBD	Rett syndrome - atypical	Mutation associated with disease	F
2987	Chae, ... Pubmed: 15526954	c.455C>G	p.P152R	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3078	Giunti L, ... Pubmed: 11738883	c.455C>G	p.P152R	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3116	Philippe C, ... Pubmed: 16473305	c.455C>G	p.P152R	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3399	Yamashita Y, ... Pubmed: 11738864	c.455C>G	p.P152R	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3435	Bienvenu T, ... Pubmed: 12180070	c.455C>G	p.P152R	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3436	Bienvenu T, ... Pubmed: 12180070	c.455C>G	p.P152R	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3437	Bienvenu T, ... Pubmed: 12180070	c.455C>G	p.P152R	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3438	Bienvenu T, ... Pubmed: 12180070	c.455C>G	p.P152R	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3439	Bienvenu T, ... Pubmed: 12180070	c.455C>G	p.P152R	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3540	Li, ... Pubmed: 17089071	c.455C>G	p.P152R	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3541	Li, ... Pubmed: 17089071	c.455C>G	p.P152R	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3646	Fukuda, ... Pubmed: 15737703	c.455C>G	p.P152R	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3647	Fukuda, ... Pubmed: 15737703	c.455C>G	p.P152R	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3648	Fukuda, ... Pubmed: 15737703	c.455C>G	p.P152R	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3649	Fukuda, ... Pubmed: 15737703	c.455C>G	p.P152R	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3650	Fukuda, ... Pubmed: 15737703	c.455C>G	p.P152R	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3651	Fukuda, ... Pubmed: 15737703	c.455C>G	p.P152R	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
4246	de Lima, ... Pubmed: 19722030	c.455C>G	p.P152R	missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
4363	Monnerat, ... Pubmed: 20031356	c.455C>G	p.P152R	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
4438	Das, ...	c.455C>G	p.P152R	missense	MBD	Not known	Mutation associated with disease	F
4439	Das, ...	c.455C>G	p.P152R	missense	MBD	Not known	Mutation associated with disease	F
4440	Das, ...	c.455C>G	p.P152R	missense	MBD	Not known	Mutation associated with disease	F
4441	Das, ...	c.455C>G	p.P152R	missense	MBD	Not known	Mutation associated with disease	F
4739	Hadzsiev, ... Pubmed: 21160487	c.455C>G	p.P152R	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
4848	Psoni, ... Pubmed: 21982064	c.455C>G	p.P152R	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
4867	Zvereff, ... Pubmed: 22277191	c.455C>G	p.P152R	missense	MBD	Rett syndrome - atypical	Mutation associated with disease	F
5067	Das, ... Pubmed: 23262346	c.455C>G	p.P152R	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
5124	Maortua, ... Pubmed: 23810759	c.455C>G	p.P152R	missense	MBD	Not Rett synd. - Rett-like	Mutation associated with disease	F
5234	Sheen, ... Pubmed: 23859859	c.455C>G	p.P152R	missense	MBD	Rett syndrome - preserved speech	Mutation associated with disease	F
6731	Daniela�Zahorakova, ... Pubmed: 26984561	c.455C>G	p.P152R	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6730	Daniela�Zahorakova, ... Pubmed: 26984561	c.455C>G	p.P152R	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6537	Directly submitted	c.455C>G	p.P152R	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6536	Directly submitted	c.455C>G	p.P152R	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6535	Directly submitted	c.455C>G	p.P152R	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6534	Directly submitted	c.455C>G	p.P152R	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6533	Directly submitted	c.455C>G	p.P152R	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6532	Directly submitted	c.455C>G	p.P152R	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6531	Directly submitted	c.455C>G	p.P152R	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
7002	Zhu Wen, ... Pubmed: 28785396	c.455C>T		missense	MBD	Not Rett synd. - autism only	Mutation associated with disease	F
867	Xiang, ... Pubmed: 10745042	c.463T>A	p.F155I	Missense	MBD	Rett syndrome - Not certain	Unknown	U
840	Amir, ... Pubmed: 10508514	c.464T>C	p.F155S	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	U
1032	Buyse, ... Pubmed: 11055898	c.464T>C	p.F155S	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
2069	Cardiff, ...	c.464T>G	p.F155C	Missense	MBD	Rett syndrome - Atypical	Unknown	F
4442	Das, ...	c.464T>G	p.F155C	missense	MBD	Not known	Unknown	F
266	Trappe, ... Pubmed: 11309679	c.467A>G	p.D156G	Missense	MBD	Rett syndrome - Not certain	Unknown	F
1292	Laccone, ... Pubmed: 11241840	c.467A>G	p.D156G	Missense	MBD	Rett syndrome - Not certain	Unknown	U
3625	Fukuda, ... Pubmed: 15737703	c.467A>C	p.D156A	missense	MBD	Rett syndrome - classical	Unknown	F
1243	Huppke, ... Pubmed: 12075485	c.468C>G	p.D156E	Missense	MBD	Rett syndrome - Not certain	Unknown	F
1244	Huppke, ... Pubmed: 12075485	c.468C>G	p.D156E	Missense	MBD	Rett syndrome - Not certain	Unknown	F
1522	Yamada, ... Pubmed: 11524741	c.468C>G	p.D156E	Missense	MBD	Rett syndrome - classical	Unknown	U
1788	Friez, ...	c.468C>G	p.D156E	Missense	MBD	Not known	Unknown	F
3117	Philippe C, ... Pubmed: 16473305	c.468C>G	p.D156E	missense	MBD	Rett syndrome - not certain	Unknown	F
3440	Bienvenu T, ... Pubmed: 12180070	c.468C>G	p.D156E	missense	MBD	Rett syndrome - not certain	Unknown	F
3441	Bienvenu T, ... Pubmed: 12180070	c.468C>G	p.D156E	missense	MBD	Rett syndrome - not certain	Unknown	F
3652	Fukuda, ... Pubmed: 15737703	c.468C>G	p.D156E	missense	MBD	Rett syndrome - classical	Unknown	F
3653	Fukuda, ... Pubmed: 15737703	c.468C>G	p.D156E	missense	MBD	Rett syndrome - classical	Unknown	F
4245	de Lima, ... Pubmed: 19722030	c.468C>G	p.D156E	missense	MBD	Rett syndrome - Classical	Unknown	F
4319	Raizis, ... Pubmed: 19652677	c.468C>G	p.D156E	missense	MBD	Rett syndrome - not certain	Unknown	F
4443	Das, ...	c.468C>G	p.D156E	missense	MBD	Not known	Unknown	F
4444	Das, ...	c.468C>G	p.D156E	missense	MBD	Not known	Unknown	F
4849	Psoni, ... Pubmed: 21982064	c.468C>G	p.D156E	missense	MBD	Rett syndrome - classical	Unknown	F
6732	Daniela�Zahorakova, ... Pubmed: 26984561	c.468C>G	p.D156E	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
1622	Bunyan, ...	c.469T>A	p.F157I	Missense	MBD	Rett syndrome - Not certain	Unknown	F
2795	Kankirawatana, ... Pubmed: 16832102	c.469T>A	p.F157I	missense	MBD	Not Rett synd. - progressive encephalopathy of neonatal onset	Unknown	M
6342	Directly submitted	c.469T>A	p.F157I	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
1839	Bunyan, ...	c.470dupT	p.T158fs	Frameshift insertion or deletion	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
3412	Yamashita Y, ... Pubmed: 11738864	c.470_471delTC	p.F157fs	frameshift insertion or deletion	MBD	Rett syndrome - preserved speech	Mutation associated with disease	F
3913	Khajuria, ...	c.471C>G	p.F157L	missense	MBD	Rett syndrome - classical	Unknown	F
1463	Vacca, ... Pubmed: 11269512	c.472A>G	p.T158A	Missense	MBD	Rett syndrome - Preserved speech	Unknown	F
1939	Schanen, ... Pubmed: 15057977	c.472A>G	p.T158A	Missense	MBD	Rett syndrome - classical	Unknown	F
61	Hoffbuhr, ... Pubmed: 11402105	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Male variant	Mutation associated with disease	M
62	Hoffbuhr, ... Pubmed: 11402105	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
63	Hoffbuhr, ... Pubmed: 11402105	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
64	Hoffbuhr, ... Pubmed: 11402105	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
65	Hoffbuhr, ... Pubmed: 11402105	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
66	Hoffbuhr, ... Pubmed: 11402105	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
67	Hoffbuhr, ... Pubmed: 11402105	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
68	Hoffbuhr, ... Pubmed: 11402105	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
69	Hoffbuhr, ... Pubmed: 11402105	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
70	Hoffbuhr, ... Pubmed: 11402105	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
71	Hoffbuhr, ... Pubmed: 11402105	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
72	Hoffbuhr, ... Pubmed: 11402105	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
108	Huppke, ... Pubmed: 10814718	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
109	Huppke, ... Pubmed: 10814718	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
139	Amano, ... Pubmed: 10944854	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
145	Amano, ... Pubmed: 10944854	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
146	Amano, ... Pubmed: 10944854	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
163	Obata, ... Pubmed: 10991688	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
164	Obata, ... Pubmed: 10991688	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
165	Obata, ... Pubmed: 10991688	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
166	Obata, ... Pubmed: 10991688	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
167	Obata, ... Pubmed: 10991688	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
192	Hampson, ... Pubmed: 10991689	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
193	Hampson, ... Pubmed: 10991689	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
228	Bourdon, ... Pubmed: 11214906	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
229	Bourdon, ... Pubmed: 11214906	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
230	Bourdon, ... Pubmed: 11214906	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
267	Trappe, ... Pubmed: 11309679	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
268	Trappe, ... Pubmed: 11309679	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
295	Auranen, ... Pubmed: 11245712	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
296	Auranen, ... Pubmed: 11245712	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
297	Auranen, ... Pubmed: 11245712	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
298	Auranen, ... Pubmed: 11245712	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
299	Auranen, ... Pubmed: 11245712	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
354	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
359	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
363	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
379	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
402	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
404	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
405	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
422	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Not known	Mutation associated with disease	F
434	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
439	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
447	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
453	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
461	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
463	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
465	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
953	Bienvenu, ... Pubmed: 10814719	c.473C>T	p.T158M	Missense	MBD	Not Rett synd. - Unaffected family member	Mutation associated with disease	F
934	Bienvenu, ... Pubmed: 10814719	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
928	Bienvenu, ... Pubmed: 10814719	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
924	Bienvenu, ... Pubmed: 10814719	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
890	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Forme fruste	Mutation associated with disease	U
888	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	U
889	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Forme fruste	Mutation associated with disease	U
886	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	U
887	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	U
884	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	U
885	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	U
868	Xiang, ... Pubmed: 10745042	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
841	Amir, ... Pubmed: 10508514	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	U
1033	Buyse, ... Pubmed: 11055898	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1034	Buyse, ... Pubmed: 11055898	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1035	Buyse, ... Pubmed: 11055898	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1036	Buyse, ... Pubmed: 11055898	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1037	Buyse, ... Pubmed: 11055898	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1038	Buyse, ... Pubmed: 11055898	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1039	Buyse, ... Pubmed: 11055898	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1040	Buyse, ... Pubmed: 11055898	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1041	Buyse, ... Pubmed: 11055898	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1042	Buyse, ... Pubmed: 11055898	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1043	Buyse, ... Pubmed: 11055898	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1044	Buyse, ... Pubmed: 11055898	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1045	Buyse, ... Pubmed: 11055898	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1046	Buyse, ... Pubmed: 11055898	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1047	Buyse, ... Pubmed: 11055898	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1048	Buyse, ... Pubmed: 11055898	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1049	Buyse, ... Pubmed: 11055898	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1050	Buyse, ... Pubmed: 11055898	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1051	Buyse, ... Pubmed: 11055898	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1052	Buyse, ... Pubmed: 11055898	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1053	Buyse, ... Pubmed: 11055898	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1163	Girard, ... Pubmed: 11313764	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1164	Girard, ... Pubmed: 11313764	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1165	Girard, ... Pubmed: 11313764	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1177	Zappella, ... Pubmed: 11746022	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Preserved speech	Mutation associated with disease	F
1197	Armstrong, ... Pubmed: 12065946	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1212	Chae, ... Pubmed: 11913567	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1214	Chae, ... Pubmed: 11913567	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1217	Chae, ... Pubmed: 11913567	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1226	Erlandson, ... Pubmed: 11469283	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1245	Huppke, ... Pubmed: 12075485	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1246	Huppke, ... Pubmed: 12075485	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1293	Laccone, ... Pubmed: 11241840	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
1294	Laccone, ... Pubmed: 11241840	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
1295	Laccone, ... Pubmed: 11241840	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
1296	Laccone, ... Pubmed: 11241840	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
1297	Laccone, ... Pubmed: 11241840	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
1298	Laccone, ... Pubmed: 11241840	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
1299	Laccone, ... Pubmed: 11241840	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
1300	Laccone, ... Pubmed: 11241840	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	U
1387	Leonard, ... Pubmed: 11392517	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	M
1397	Nicolao, ... Pubmed: 11462237	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1398	Nicolao, ... Pubmed: 11462237	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1399	Nicolao, ... Pubmed: 11462237	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1442	Vacca, ... Pubmed: 11269512	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1443	Vacca, ... Pubmed: 11269512	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1444	Vacca, ... Pubmed: 11269512	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1464	Vacca, ... Pubmed: 11269512	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1465	Vacca, ... Pubmed: 11269512	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1466	Vacca, ... Pubmed: 11269512	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1479	Villard, ... Pubmed: 11071498	c.473C>T	p.T158M	Missense	MBD	Not Rett synd. - Unaffected family member	Mutation associated with disease	F
1480	Villard, ... Pubmed: 11071498	c.473C>T	p.T158M	Missense	MBD	Not Rett synd. - Progressive encephalopathy of neonatal onset	Mutation associated with disease	M
1481	Villard, ... Pubmed: 11071498	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1506	Yamada, ... Pubmed: 11524741	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - classical	Mutation associated with disease	U
1507	Yamada, ... Pubmed: 11524741	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - classical	Mutation associated with disease	U
1508	Yamada, ... Pubmed: 11524741	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - atypical	Mutation associated with disease	U
1509	Yamada, ... Pubmed: 11524741	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - atypical	Mutation associated with disease	U
1556	Fridman C, ...	c.473C>T	p.T158M	Missense	MBD	Not Rett synd. - angelman syndrome	Mutation associated with disease	F
1559	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - atypical	Mutation associated with disease	F
1621	Bunyan, ...	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1645	Bunyan, ...	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1661	Friez, ...	c.473C>T	p.T158M	Missense	MBD	Not known	Mutation associated with disease	F
1663	Friez, ...	c.473C>T	p.T158M	Missense	MBD	Not known	Mutation associated with disease	F
1665	Friez, ...	c.473C>T	p.T158M	Missense	MBD	Not known	Mutation associated with disease	F
1666	Friez, ...	c.473C>T	p.T158M	Missense	MBD	Not known	Mutation associated with disease	F
1685	Friez, ...	c.473C>T	p.T158M	Missense	MBD	Not known	Mutation associated with disease	F
1715	Friez, ...	c.473C>T	p.T158M	Missense	MBD	Not known	Mutation associated with disease	F
1723	Friez, ...	c.473C>T	p.T158M	Missense	MBD	Not known	Mutation associated with disease	F
1746	Friez, ...	c.473C>T	p.T158M	Missense	MBD	Not known	Mutation associated with disease	F
1749	Friez, ...	c.473C>T	p.T158M	Missense	MBD	Not known	Mutation associated with disease	F
1779	Friez, ...	c.473C>T	p.T158M	Missense	MBD	Not known	Mutation associated with disease	F
1802	Friez, ...	c.473C>T	p.T158M	Missense	MBD	Not known	Mutation associated with disease	F
1836	Bunyan, ...	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1847	Bunyan, ...	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1855	Bunyan, ...	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1874	Bunyan, ...	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1886	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1887	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
1927	Schanen, ... Pubmed: 15057977	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
1931	Schanen, ... Pubmed: 15057977	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
1933	Schanen, ... Pubmed: 15057977	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
1935	Schanen, ... Pubmed: 15057977	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
1941	Schanen, ... Pubmed: 15057977	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
1947	Schanen, ... Pubmed: 15057977	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
1948	Schanen, ... Pubmed: 15057977	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
1950	Schanen, ... Pubmed: 15057977	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
2001	Donatella Milani, ... Pubmed: 15866439	c.473C>T	p.T158M	Missense	MBD	Not known	Mutation associated with disease	F
2019	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Not known	Mutation associated with disease	F
2046	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Not known	Mutation associated with disease	F
2066	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Not known	Mutation associated with disease	F
2339	Cardiff, ...	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2340	Cardiff, ...	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2341	Cardiff, ...	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2342	Cardiff, ...	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
2343	Cardiff, ...	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
2344	Cardiff, ...	c.473C>T	p.T158M	Missense	MBD	Not Rett synd. - Progressive encephalopathy of neonatal onset	Mutation associated with disease	M
2345	Cardiff, ...	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2346	Cardiff, ...	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
2347	Cardiff, ...	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
2348	Cardiff, ...	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2349	Cardiff, ...	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2350	Cardiff, ...	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2351	Cardiff, ...	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
2352	Cardiff, ...	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2353	Cardiff, ...	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2354	Cardiff, ...	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
2355	Cardiff, ...	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
2356	Cardiff, ...	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2357	Cardiff, ...	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2358	Cardiff, ...	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2359	Cardiff, ...	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
2360	Cardiff, ...	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2361	Cardiff, ...	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2362	Cardiff, ...	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2363	Cardiff, ...	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2364	Cardiff, ...	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2405	Monros, ... Pubmed: 11738885	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2415	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Forme fruste	Mutation associated with disease	F
2425	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2428	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2440	Monros, ... Pubmed: 11738885	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2442	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2444	Monros, ... Pubmed: 11738885	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2448	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2464	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2472	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2478	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Congenital onset	Mutation associated with disease	F
2480	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2483	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2486	Directly submitted	c.473C>T	p.T158M	Missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2492	Tjitske Kleefstra, ... Pubmed: 14560307	c.473C>T	p.T158M	Missense	MBD	Not Rett synd. - Angelman syndrome	Mutation associated with disease	M
2540	Matijevic, ... Pubmed: 17341617	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
2548	Lundvall, ... Pubmed: 17236109	c.473C>T	p.T158M	missense	MBD	Rett syndrome - male variant	Mutation associated with disease	M
2549	Lundvall, ... Pubmed: 17236109	c.473C>T	p.T158M	missense	MBD	Rett syndrome - male variant	Mutation associated with disease	M
2582	Zahorakova, ... Pubmed: 17387578	c.473C>T	p.T158M	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2583	Zahorakova, ... Pubmed: 17387578	c.473C>T	p.T158M	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2584	Zahorakova, ... Pubmed: 17387578	c.473C>T	p.T158M	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2585	Zahorakova, ... Pubmed: 17387578	c.473C>T	p.T158M	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2586	Zahorakova, ... Pubmed: 17387578	c.473C>T	p.T158M	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2587	Zahorakova, ... Pubmed: 17387578	c.473C>T	p.T158M	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2588	Zahorakova, ... Pubmed: 17387578	c.473C>T	p.T158M	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2589	Zahorakova, ... Pubmed: 17387578	c.473C>T	p.T158M	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2590	Zahorakova, ... Pubmed: 17387578	c.473C>T	p.T158M	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2591	Zahorakova, ... Pubmed: 17387578	c.473C>T	p.T158M	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2592	Zahorakova, ... Pubmed: 17387578	c.473C>T	p.T158M	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
2807	Kim, ... Pubmed: 16672765	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
2808	Kim, ... Pubmed: 16672765	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
2809	Kim, ... Pubmed: 16672765	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
2810	Kim, ... Pubmed: 16672765	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
2854	Conforti, ... Pubmed: 12567420	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
2855	Conforti, ... Pubmed: 12567420	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
2873	Smeets, ... Pubmed: 12966523	c.473C>T	p.T158M	missense	MBD	Rett syndrome - forme fruste	Mutation associated with disease	F
2874	Smeets, ... Pubmed: 12966523	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
2893	Djarmati, ... Pubmed: 17986102	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
2894	Djarmati, ... Pubmed: 17986102	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
2935	Kammoun, ... Pubmed: 15173251	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
2936	Kammoun, ... Pubmed: 15173251	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
2937	Kammoun, ... Pubmed: 15173251	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
2959	Kammoun, ... Pubmed: 15173251	c.473C>T	p.T158M	missense	MBD	Rett syndrome - atypical	Mutation associated with disease	F
2960	Kammoun, ... Pubmed: 15173251	c.473C>T	p.T158M	missense	MBD	Rett syndrome - atypical	Mutation associated with disease	F
2961	Kammoun, ... Pubmed: 15173251	c.473C>T	p.T158M	missense	MBD	Rett syndrome - atypical	Mutation associated with disease	F
2962	Kammoun, ... Pubmed: 15173251	c.473C>T	p.T158M	missense	MBD	Rett syndrome - atypical	Mutation associated with disease	F
2963	Kammoun, ... Pubmed: 15173251	c.473C>T	p.T158M	missense	MBD	Rett syndrome - atypical	Mutation associated with disease	F
2988	Chae, ... Pubmed: 15526954	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
2989	Chae, ... Pubmed: 15526954	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
2996	Pan, ... Pubmed: 12111643	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
2997	Pan, ... Pubmed: 12111643	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
2998	Pan, ... Pubmed: 12111643	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
2999	Pan, ... Pubmed: 12111643	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3038	Yaron Y, ... Pubmed: 12325033	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3039	Yaron Y, ... Pubmed: 12325033	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3068	Giunti L, ... Pubmed: 11738883	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3069	Giunti L, ... Pubmed: 11738883	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3070	Giunti L, ... Pubmed: 11738883	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3071	Giunti L, ... Pubmed: 11738883	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3072	Giunti L, ... Pubmed: 11738883	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3073	Giunti L, ... Pubmed: 11738883	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3074	Giunti L, ... Pubmed: 11738883	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3075	Giunti L, ... Pubmed: 11738883	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3076	Giunti L, ... Pubmed: 11738883	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3118	Philippe C, ... Pubmed: 16473305	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3119	Philippe C, ... Pubmed: 16473305	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3120	Philippe C, ... Pubmed: 16473305	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3121	Philippe C, ... Pubmed: 16473305	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3122	Philippe C, ... Pubmed: 16473305	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3123	Philippe C, ... Pubmed: 16473305	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3124	Philippe C, ... Pubmed: 16473305	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3125	Philippe C, ... Pubmed: 16473305	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3126	Philippe C, ... Pubmed: 16473305	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3127	Philippe C, ... Pubmed: 16473305	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3128	Philippe C, ... Pubmed: 16473305	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3129	Philippe C, ... Pubmed: 16473305	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3130	Philippe C, ... Pubmed: 16473305	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3131	Philippe C, ... Pubmed: 16473305	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3132	Philippe C, ... Pubmed: 16473305	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3133	Philippe C, ... Pubmed: 16473305	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3134	Philippe C, ... Pubmed: 16473305	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3135	Philippe C, ... Pubmed: 16473305	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3136	Philippe C, ... Pubmed: 16473305	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3137	Philippe C, ... Pubmed: 16473305	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3374	Nielsen JB, ... Pubmed: 11313756	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3375	Nielsen JB, ... Pubmed: 11313756	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3376	Nielsen JB, ... Pubmed: 11313756	c.473C>T	p.T158M	missense	MBD	Rett syndrome - forme fruste	Mutation associated with disease	F
3384	Nielsen JB, ... Pubmed: 11738879	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3390	Yamashita Y, ... Pubmed: 11738864	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3391	Yamashita Y, ... Pubmed: 11738864	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3392	Yamashita Y, ... Pubmed: 11738864	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3442	Bienvenu T, ... Pubmed: 12180070	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3443	Bienvenu T, ... Pubmed: 12180070	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3444	Bienvenu T, ... Pubmed: 12180070	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3445	Bienvenu T, ... Pubmed: 12180070	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3446	Bienvenu T, ... Pubmed: 12180070	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3447	Bienvenu T, ... Pubmed: 12180070	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3448	Bienvenu T, ... Pubmed: 12180070	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3449	Bienvenu T, ... Pubmed: 12180070	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3450	Bienvenu T, ... Pubmed: 12180070	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3543	Li, ... Pubmed: 17089071	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3544	Li, ... Pubmed: 17089071	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3545	Li, ... Pubmed: 17089071	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3546	Li, ... Pubmed: 17089071	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3547	Li, ... Pubmed: 17089071	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3548	Li, ... Pubmed: 17089071	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3549	Li, ... Pubmed: 17089071	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3550	Li, ... Pubmed: 17089071	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3551	Li, ... Pubmed: 17089071	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3552	Li, ... Pubmed: 17089071	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3553	Li, ... Pubmed: 17089071	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3554	Li, ... Pubmed: 17089071	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3555	Li, ... Pubmed: 17089071	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3556	Li, ... Pubmed: 17089071	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3557	Li, ... Pubmed: 17089071	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3654	Fukuda, ... Pubmed: 15737703	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3655	Fukuda, ... Pubmed: 15737703	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3656	Fukuda, ... Pubmed: 15737703	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3657	Fukuda, ... Pubmed: 15737703	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3658	Fukuda, ... Pubmed: 15737703	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3659	Fukuda, ... Pubmed: 15737703	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3660	Fukuda, ... Pubmed: 15737703	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3661	Fukuda, ... Pubmed: 15737703	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3662	Fukuda, ... Pubmed: 15737703	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3663	Fukuda, ... Pubmed: 15737703	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3664	Fukuda, ... Pubmed: 15737703	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3665	Fukuda, ... Pubmed: 15737703	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3666	Fukuda, ... Pubmed: 15737703	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3667	Fukuda, ... Pubmed: 15737703	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3668	Fukuda, ... Pubmed: 15737703	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3669	Fukuda, ... Pubmed: 15737703	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3670	Fukuda, ... Pubmed: 15737703	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3671	Fukuda, ... Pubmed: 15737703	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3672	Fukuda, ... Pubmed: 15737703	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3673	Fukuda, ... Pubmed: 15737703	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3674	Fukuda, ... Pubmed: 15737703	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3675	Fukuda, ... Pubmed: 15737703	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
3788	Inui, ... Pubmed: 11376998	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3789	Inui, ... Pubmed: 11376998	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3792	Inui, ... Pubmed: 11376998	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
3980	Lundvall, ... Pubmed: 17236109	c.473C>T	p.T158M	missense	MBD	Not Rett synd. - unaffected family member	Mutation associated with disease	F
4063	Lee SSJ, ... Pubmed: 11738860	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
4064	Lee SSJ, ... Pubmed: 11738860	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
4065	Lee SSJ, ... Pubmed: 11738860	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
4109	Milunsky, ... Pubmed: 11960578	c.473C>T	p.T158M	missense	MBD	Not known	Mutation associated with disease	F
4110	Milunsky, ... Pubmed: 11960578	c.473C>T	p.T158M	missense	MBD	Not known	Mutation associated with disease	F
4111	Milunsky, ... Pubmed: 11960578	c.473C>T	p.T158M	missense	MBD	Not known	Mutation associated with disease	F
4112	Milunsky, ... Pubmed: 11960578	c.473C>T	p.T158M	missense	MBD	Not known	Mutation associated with disease	F
4113	Milunsky, ... Pubmed: 11960578	c.473C>T	p.T158M	missense	MBD	Not known	Mutation associated with disease	F
4114	Milunsky, ... Pubmed: 11960578	c.473C>T	p.T158M	missense	MBD	Not known	Mutation associated with disease	F
4115	Milunsky, ... Pubmed: 11960578	c.473C>T	p.T158M	missense	MBD	Not known	Mutation associated with disease	F
4116	Milunsky, ... Pubmed: 11960578	c.473C>T	p.T158M	missense	MBD	Not known	Mutation associated with disease	F
5298	Suter, ... Pubmed: 23921973	c.473C>T	p.T158M	missense	MBD	Not Rett synd. - autism - pervasive developmental disorder	Mutation associated with disease	F
4231	de Lima, ... Pubmed: 19722030	c.473C>T	p.T158M	missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
4232	de Lima, ... Pubmed: 19722030	c.473C>T	p.T158M	missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
4233	de Lima, ... Pubmed: 19722030	c.473C>T	p.T158M	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
4234	de Lima, ... Pubmed: 19722030	c.473C>T	p.T158M	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
4235	de Lima, ... Pubmed: 19722030	c.473C>T	p.T158M	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
4236	de Lima, ... Pubmed: 19722030	c.473C>T	p.T158M	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
4237	de Lima, ... Pubmed: 19722030	c.473C>T	p.T158M	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
4238	de Lima, ... Pubmed: 19722030	c.473C>T	p.T158M	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
4239	de Lima, ... Pubmed: 19722030	c.473C>T	p.T158M	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
4240	de Lima, ... Pubmed: 19722030	c.473C>T	p.T158M	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
4301	Fendri-Kriaa, ... Pubmed: 20631224	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
4302	Fendri-Kriaa, ... Pubmed: 20631224	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
4303	Fendri-Kriaa, ... Pubmed: 20631224	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
4304	Fendri-Kriaa, ... Pubmed: 20631224	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
4312	Raizis, ... Pubmed: 19652677	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
4364	Monnerat, ... Pubmed: 20031356	c.473C>T	p.T158M	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
4365	Monnerat, ... Pubmed: 20031356	c.473C>T	p.T158M	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
4366	Monnerat, ... Pubmed: 20031356	c.473C>T	p.T158M	missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
4367	Monnerat, ... Pubmed: 20031356	c.473C>T	p.T158M	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
4368	Monnerat, ... Pubmed: 20031356	c.473C>T	p.T158M	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
4369	Monnerat, ... Pubmed: 20031356	c.473C>T	p.T158M	missense	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
4370	Monnerat, ... Pubmed: 20031356	c.473C>T	p.T158M	missense	MBD	Rett syndrome - Classical	Mutation associated with disease	F
4447	Das, ...	c.473C>T	p.T158M	missense	MBD	Not known	Mutation associated with disease	F
4448	Das, ...	c.473C>T	p.T158M	missense	MBD	Not known	Mutation associated with disease	F
4449	Das, ...	c.473C>T	p.T158M	missense	MBD	Not known	Mutation associated with disease	F
4450	Das, ...	c.473C>T	p.T158M	missense	MBD	Not known	Mutation associated with disease	F
4451	Das, ...	c.473C>T	p.T158M	missense	MBD	Not known	Mutation associated with disease	F
4452	Das, ...	c.473C>T	p.T158M	missense	MBD	Not known	Mutation associated with disease	F
4453	Das, ...	c.473C>T	p.T158M	missense	MBD	Not known	Mutation associated with disease
4454	Das, ...	c.473C>T	p.T158M	missense	MBD	Not known	Mutation associated with disease	F
4455	Das, ...	c.473C>T	p.T158M	missense	MBD	Not known	Mutation associated with disease	F
4456	Das, ...	c.473C>T	p.T158M	missense	MBD	Not known	Mutation associated with disease	F
4457	Das, ...	c.473C>T	p.T158M	missense	MBD	Not known	Mutation associated with disease	F
4740	Hadzsiev, ... Pubmed: 21160487	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
4741	Hadzsiev, ... Pubmed: 21160487	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
4742	Hadzsiev, ... Pubmed: 21160487	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
4743	Hadzsiev, ... Pubmed: 21160487	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
4744	Hadzsiev, ... Pubmed: 21160487	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
4745	Hadzsiev, ... Pubmed: 21160487	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
4810	Corbani, ... Pubmed: 21954873	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
4836	Psoni, ... Pubmed: 21982064	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
4837	Psoni, ... Pubmed: 21982064	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
4838	Psoni, ... Pubmed: 21982064	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
4839	Psoni, ... Pubmed: 21982064	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
4868	Zvereff, ... Pubmed: 22277191	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
4869	Zvereff, ... Pubmed: 22277191	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
4906	Kim, ... Pubmed: 22476991	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
4907	Kim, ... Pubmed: 22476991	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
4918	Kim, ... Pubmed: 22476991	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
4919	Kim, ... Pubmed: 22476991	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
4923	Todorov, ... Pubmed: 22525432	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
5051	Das, ... Pubmed: 23262346	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
5052	Das, ... Pubmed: 23262346	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
5053	Das, ... Pubmed: 23262346	c.473C>T	p.T158M	missense	MBD	Rett syndrome - not certain	Mutation associated with disease	F
5125	Maortua, ... Pubmed: 23810759	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6736	Daniela�Zahorakova, ... Pubmed: 26984561	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6735	Daniela�Zahorakova, ... Pubmed: 26984561	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6733	Daniela�Zahorakova, ...	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6734	Daniela�Zahorakova, ... Pubmed: 26984561	c.473C>T	p.T158M	missense	MBD	Rett syndrome - congenital onset	Mutation associated with disease	F
6530	Directly submitted	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6529	Directly submitted	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6528	Directly submitted	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6527	Directly submitted	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6526	Directly submitted	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6525	Directly submitted	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6524	Directly submitted	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6523	Directly submitted	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6522	Directly submitted	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6521	Directly submitted	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6520	Directly submitted	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6519	Directly submitted	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6518	Directly submitted	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6517	Directly submitted	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6516	Directly submitted	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6515	Directly submitted	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6514	Directly submitted	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6513	Directly submitted	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6512	Directly submitted	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6511	Directly submitted	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6510	Directly submitted	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6509	Directly submitted	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6508	Directly submitted	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6507	Directly submitted	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6506	Directly submitted	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6505	Directly submitted	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6504	Directly submitted	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6503	Directly submitted	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
6502	Directly submitted	c.473C>T	p.T158M	missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
7010	Huong Le Thi Thanh , ... Pubmed: 30081849	c.473C > T		missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
7011	Huong Le Thi Thanh , ... Pubmed: 30081849	c.473C > T		missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
7012	Huong Le Thi Thanh , ... Pubmed: 30081849	c.473C > T		missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
7013	Huong Le Thi Thanh , ... Pubmed: 30081849	c.473C > T		missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
7034	Tsutomu Shioda , ... Pubmed: 29631775	c.473C>T		missense	MBD	Rett syndrome - classical	Mutation associated with disease	F
15	Bunyan, ...	c.474G>A	p.T158T	Silent	MBD	Rett syndrome - Not certain	Silent polymorphism	F
2160	Cardiff, ...	c.474G>A	p.T158T	Silent	MBD	Not known	Silent polymorphism	F
2161	Cardiff, ...	c.474G>A	p.T158T	Silent	MBD	Not Rett synd. - Unaffected family member	Silent polymorphism	M
3259	Philippe C, ... Pubmed: 16473305	c.475delG	p.V159X	frameshift insertion or deletion	MBD	Rett syndrome - not certain	Mutation associated with disease	F
6637	Directly submitted	c.478dupA	p.T160fs	frameshift insertion or deletion	MBD	Rett syndrome - classical	Mutation associated with disease	F
2058	Directly submitted	c.479C>G	p.T160S	Missense	MBD	Not known	Unknown	F
4796	Campos, ... Pubmed: 21600714	c.479C>G	p.T160S	missense	MBD	Not Rett synd. - autism	Unknown	M
443	Directly submitted	c.480_481delTG	p.G161fs	Frameshift insertion or deletion	MBD	Rett syndrome - Atypical	Mutation associated with disease	F
3260	Philippe C, ... Pubmed: 16473305	c.480delT	p.R162fs	frameshift insertion or deletion	MBD	Rett syndrome - not certain	Mutation associated with disease	F
231	Bourdon, ... Pubmed: 11214906	c.481G>T	p.G161W	Missense	MBD	Rett syndrome - Not certain	Unknown	U
2090	Cardiff, ...	c.481_987del507ins8	p.G161fs	frameshift combined insertion and deletion	MBD	Rett syndrome - Classical	Mutation associated with disease	F
1942	Schanen, ... Pubmed: 15057977	c.482G>T	p.G161V	Missense	MBD	Rett syndrome - atypical	Unknown	F
2812	Kim, ... Pubmed: 16672765	c.482G>A	p.G161E	missense	MBD	Rett syndrome - classical	Unknown	F
4097	Milunsky, ... Pubmed: 11960578	c.482G>T	p.G161V	missense	MBD	Rett syndrome - classical	Unknown	F
1888	Directly submitted	c.483delG	p.R162fs	Frameshift insertion or deletion	MBD	Rett syndrome - Not certain	Mutation associated with disease	F
4084	Khajuria, ...	c.484dupA	p.R162fs	frameshift insertion or deletion	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
1239	Geerdink, ... Pubmed: 11930274	c.488_489delGG	p.G163fs	Frameshift insertion or deletion	Inter-domain region	Not Rett synd. - Progressive encephalopathy of neonatal onset	Mutation associated with disease	M
1240	Geerdink, ... Pubmed: 11930274	c.488_489delGG	p.G163fs	Frameshift insertion or deletion	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
3261	Philippe C, ... Pubmed: 16473305	c.488_1189del702	p.G163_S396del	in-frame insertion or deletion	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
4102	Milunsky, ... Pubmed: 11960578	c.495delC	p.S166fs	frameshift insertion or deletion	inter-domain region	Not known	Mutation associated with disease	F
1013	Couvert, ... Pubmed: 11309367	c.499C>T	p.R167W	Missense	Inter-domain region	Not Rett synd. - X-linked mental retardation	Mutation associated with disease	M
4458	Das, ...	c.499C>T	p.R167W	missense	inter-domain region	Not known	Mutation associated with disease	F
4459	Das, ...	c.499C>T	p.R167W	missense	inter-domain region	Not Rett synd. - unaffected family member	Mutation associated with disease	F
4460	Das, ...	c.499C>T	p.R167W	missense	inter-domain region	Not known	Mutation associated with disease	F
6591	Directly submitted	c.499C>T	p.R167W	missense	Inter-domain	Not Rett synd. - x-linked mental retardation	Mutation associated with disease	M
80	Hoffbuhr, ... Pubmed: 11402105	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
81	Hoffbuhr, ... Pubmed: 11402105	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
82	Hoffbuhr, ... Pubmed: 11402105	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
83	Hoffbuhr, ... Pubmed: 11402105	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
84	Hoffbuhr, ... Pubmed: 11402105	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
85	Hoffbuhr, ... Pubmed: 11402105	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
110	Huppke, ... Pubmed: 10814718	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Preserved speech	Mutation associated with disease	F
111	Huppke, ... Pubmed: 10814718	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
112	Huppke, ... Pubmed: 10814718	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
142	Amano, ... Pubmed: 10944854	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	U
173	Obata, ... Pubmed: 10991688	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
174	Obata, ... Pubmed: 10991688	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
175	Obata, ... Pubmed: 10991688	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
176	Obata, ... Pubmed: 10991688	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
177	Obata, ... Pubmed: 10991688	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
195	Hampson, ... Pubmed: 10991689	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
196	Hampson, ... Pubmed: 10991689	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
197	Hampson, ... Pubmed: 10991689	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
213	Orrico, ... Pubmed: 11007980	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
237	Bourdon, ... Pubmed: 11214906	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	U
238	Bourdon, ... Pubmed: 11214906	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	U
239	Bourdon, ... Pubmed: 11214906	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	U
270	Trappe, ... Pubmed: 11309679	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
271	Trappe, ... Pubmed: 11309679	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
272	Trappe, ... Pubmed: 11309679	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
273	Trappe, ... Pubmed: 11309679	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
274	Trappe, ... Pubmed: 11309679	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
275	Trappe, ... Pubmed: 11309679	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
300	Auranen, ... Pubmed: 11245712	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
332	De Bona, ... Pubmed: 10854091	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
333	De Bona, ... Pubmed: 10854091	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
334	De Bona, ... Pubmed: 10854091	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
360	Directly submitted	c.502C>T	p.R168X	Nonsense	Inter-domain region	Not known	Mutation associated with disease	F
397	Directly submitted	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
407	Directly submitted	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
408	Directly submitted	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
412	Directly submitted	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Atypical	Mutation associated with disease	F
416	Directly submitted	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Atypical	Mutation associated with disease	F
425	Directly submitted	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
428	Directly submitted	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
444	Directly submitted	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
457	Directly submitted	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Atypical	Mutation associated with disease	F
458	Directly submitted	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
471	Directly submitted	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Atypical	Mutation associated with disease	F
937	Bienvenu, ... Pubmed: 10814719	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
931	Bienvenu, ... Pubmed: 10814719	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
925	Bienvenu, ... Pubmed: 10814719	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
923	Bienvenu, ... Pubmed: 10814719	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
894	Directly submitted	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	U
892	Directly submitted	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	U
893	Directly submitted	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	U
891	Directly submitted	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	U
877	Xiang, ... Pubmed: 10745042	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	U
876	Xiang, ... Pubmed: 10745042	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	U
875	Xiang, ... Pubmed: 10745042	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	U
1065	Buyse, ... Pubmed: 11055898	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1066	Buyse, ... Pubmed: 11055898	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1067	Buyse, ... Pubmed: 11055898	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1068	Buyse, ... Pubmed: 11055898	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1069	Buyse, ... Pubmed: 11055898	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1070	Buyse, ... Pubmed: 11055898	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1071	Buyse, ... Pubmed: 11055898	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1072	Buyse, ... Pubmed: 11055898	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1073	Buyse, ... Pubmed: 11055898	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1074	Buyse, ... Pubmed: 11055898	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1075	Buyse, ... Pubmed: 11055898	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1076	Buyse, ... Pubmed: 11055898	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1077	Buyse, ... Pubmed: 11055898	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1160	Girard, ... Pubmed: 11313764	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1161	Girard, ... Pubmed: 11313764	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1162	Girard, ... Pubmed: 11313764	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1208	Chae, ... Pubmed: 11913567	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
1227	Erlandson, ... Pubmed: 11469283	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
1228	Erlandson, ... Pubmed: 11469283	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
1307	Laccone, ... Pubmed: 11241840	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	U
1308	Laccone, ... Pubmed: 11241840	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	U
1309	Laccone, ... Pubmed: 11241840	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	U
1310	Laccone, ... Pubmed: 11241840	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	U
1311	Laccone, ... Pubmed: 11241840	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	U
1312	Laccone, ... Pubmed: 11241840	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	U
1313	Laccone, ... Pubmed: 11241840	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	U
1314	Laccone, ... Pubmed: 11241840	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	U
1315	Laccone, ... Pubmed: 11241840	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	U
1316	Laccone, ... Pubmed: 11241840	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	U
1317	Laccone, ... Pubmed: 11241840	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	U
1318	Laccone, ... Pubmed: 11241840	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	U
1319	Laccone, ... Pubmed: 11241840	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	U
1377	Lam, ... Pubmed: 11106359	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1405	Nicolao, ... Pubmed: 11462237	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
1406	Nicolao, ... Pubmed: 11462237	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
1407	Nicolao, ... Pubmed: 11462237	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
1445	Vacca, ... Pubmed: 11269512	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
1446	Vacca, ... Pubmed: 11269512	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
1447	Vacca, ... Pubmed: 11269512	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
1448	Vacca, ... Pubmed: 11269512	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
1467	Vacca, ... Pubmed: 11269512	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
1485	Wan, ... Pubmed: 10577905	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	U
1486	Wan, ... Pubmed: 10577905	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	U
1487	Wan, ... Pubmed: 10577905	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	U
1488	Wan, ... Pubmed: 10577905	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	U
1489	Wan, ... Pubmed: 10577905	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	U
1490	Wan, ... Pubmed: 10577905	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	U
1491	Wan, ... Pubmed: 10577905	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1492	Wan, ... Pubmed: 10577905	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1493	Wan, ... Pubmed: 10577905	c.502C>T	p.R168X	Nonsense	Inter-domain region	Not Rett synd. - Unaffected family member	Mutation associated with disease	F
1601	Bunyan, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1604	Bunyan, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1642	Bunyan, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1656	Directly submitted	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1660	Friez, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Not known	Mutation associated with disease	F
1664	Friez, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Not known	Mutation associated with disease	F
1667	Friez, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Not known	Mutation associated with disease	F
1676	Friez, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Not known	Mutation associated with disease	F
1683	Friez, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Not known	Mutation associated with disease	F
1691	Friez, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Not known	Mutation associated with disease	F
1692	Friez, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Not known	Mutation associated with disease	F
1696	Friez, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Not known	Mutation associated with disease	F
1697	Friez, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Not known	Mutation associated with disease	F
1710	Friez, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Not known	Mutation associated with disease	F
1714	Friez, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Not known	Mutation associated with disease	F
1720	Friez, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Not known	Mutation associated with disease	F
1761	Friez, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Not known	Mutation associated with disease	F
1796	Friez, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Not known	Mutation associated with disease	F
1800	Friez, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Not known	Mutation associated with disease	F
1821	Bunyan, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1861	Bunyan, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1889	Directly submitted	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1890	Directly submitted	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1925	Schanen, ... Pubmed: 15057977	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
1937	Schanen, ... Pubmed: 15057977	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
1949	Schanen, ... Pubmed: 15057977	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - atypical	Mutation associated with disease	F
1954	Schanen, ... Pubmed: 15057977	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - atypical	Mutation associated with disease	F
1955	Schanen, ... Pubmed: 15057977	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
1960	Schanen, ... Pubmed: 15057977	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - atypical	Mutation associated with disease	F
2017	Directly submitted	c.502C>T	p.R168X	Nonsense	Inter-domain region	Not known	Mutation associated with disease	F
2022	Directly submitted	c.502C>T	p.R168X	Nonsense	Inter-domain region	Not known	Mutation associated with disease	F
2036	Directly submitted	c.502C>T	p.R168X	Nonsense	Inter-domain region	Not known	Mutation associated with disease	F
2227	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2228	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Atypical	Mutation associated with disease	F
2229	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2230	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
2231	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2232	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
2233	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Atypical	Mutation associated with disease	F
2234	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2235	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2236	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2237	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Atypical	Mutation associated with disease	F
2238	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2239	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2240	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2241	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Atypical	Mutation associated with disease	F
2242	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2243	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Atypical	Mutation associated with disease	F
2244	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2245	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2247	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2248	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2249	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Atypical	Mutation associated with disease	F
2250	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2251	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Atypical	Mutation associated with disease	F
2252	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2253	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2254	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2255	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Atypical	Mutation associated with disease	F
2256	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2257	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2258	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2259	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2260	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2261	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2262	Cardiff, ...	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2404	Monros, ... Pubmed: 11738885	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Preserved speech	Mutation associated with disease	F
2406	Monros, ... Pubmed: 11738885	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Congenital onset	Mutation associated with disease	F
2420	Monros, ... Pubmed: 11738885	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2422	Monros, ... Pubmed: 11738885	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Preserved speech	Mutation associated with disease	F
2427	Directly submitted	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2441	Directly submitted	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2454	Directly submitted	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2458	Directly submitted	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Congenital onset	Mutation associated with disease	F
2462	Directly submitted	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2463	Directly submitted	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2469	Directly submitted	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2474	Directly submitted	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Preserved speech	Mutation associated with disease	F
2485	Directly submitted	c.502C>T	p.R168X	Nonsense	Inter-domain region	Rett syndrome - Congenital onset	Mutation associated with disease	F
2541	Matijevic, ... Pubmed: 17341617	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
2593	Zahorakova, ... Pubmed: 17387578	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2594	Zahorakova, ... Pubmed: 17387578	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2595	Zahorakova, ... Pubmed: 17387578	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2819	Kim, ... Pubmed: 16672765	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
2895	Djarmati, ... Pubmed: 17986102	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
2938	Kammoun, ... Pubmed: 15173251	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
2939	Kammoun, ... Pubmed: 15173251	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
2964	Kammoun, ... Pubmed: 15173251	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - atypical	Mutation associated with disease	F
2978	Chae, ... Pubmed: 15526954	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
2979	Chae, ... Pubmed: 15526954	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
2980	Chae, ... Pubmed: 15526954	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
3003	Pan, ... Pubmed: 12111643	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
3004	Pan, ... Pubmed: 12111643	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
3013	Xiang, ... Pubmed: 12081725	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
3040	Yaron Y, ... Pubmed: 12325033	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
3051	Giunti L, ... Pubmed: 11738883	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3052	Giunti L, ... Pubmed: 11738883	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3053	Giunti L, ... Pubmed: 11738883	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3054	Giunti L, ... Pubmed: 11738883	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3171	Philippe C, ... Pubmed: 16473305	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3172	Philippe C, ... Pubmed: 16473305	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3173	Philippe C, ... Pubmed: 16473305	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3174	Philippe C, ... Pubmed: 16473305	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3175	Philippe C, ... Pubmed: 16473305	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3176	Philippe C, ... Pubmed: 16473305	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3177	Philippe C, ... Pubmed: 16473305	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3178	Philippe C, ... Pubmed: 16473305	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3179	Philippe C, ... Pubmed: 16473305	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3180	Philippe C, ... Pubmed: 16473305	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3181	Philippe C, ... Pubmed: 16473305	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3182	Philippe C, ... Pubmed: 16473305	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3183	Philippe C, ... Pubmed: 16473305	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3184	Philippe C, ... Pubmed: 16473305	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3185	Philippe C, ... Pubmed: 16473305	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3186	Philippe C, ... Pubmed: 16473305	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3187	Philippe C, ... Pubmed: 16473305	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3188	Philippe C, ... Pubmed: 16473305	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3189	Philippe C, ... Pubmed: 16473305	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3190	Philippe C, ... Pubmed: 16473305	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3191	Philippe C, ... Pubmed: 16473305	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3192	Philippe C, ... Pubmed: 16473305	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3193	Philippe C, ... Pubmed: 16473305	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3194	Philippe C, ... Pubmed: 16473305	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3195	Philippe C, ... Pubmed: 16473305	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3196	Philippe C, ... Pubmed: 16473305	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3197	Philippe C, ... Pubmed: 16473305	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3354	Leonard H, ... Pubmed: 15228575	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3367	Nielsen JB, ... Pubmed: 11313756	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
3368	Nielsen JB, ... Pubmed: 11313756	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
3369	Nielsen JB, ... Pubmed: 11313756	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
3406	Yamashita Y, ... Pubmed: 11738864	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
3407	Yamashita Y, ... Pubmed: 11738864	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
3463	Bienvenu T, ... Pubmed: 12180070	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3464	Bienvenu T, ... Pubmed: 12180070	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3465	Bienvenu T, ... Pubmed: 12180070	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3466	Bienvenu T, ... Pubmed: 12180070	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3467	Bienvenu T, ... Pubmed: 12180070	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3468	Bienvenu T, ... Pubmed: 12180070	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3469	Bienvenu T, ... Pubmed: 12180070	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3470	Bienvenu T, ... Pubmed: 12180070	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3471	Bienvenu T, ... Pubmed: 12180070	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3472	Bienvenu T, ... Pubmed: 12180070	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3473	Bienvenu T, ... Pubmed: 12180070	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3474	Bienvenu T, ... Pubmed: 12180070	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3475	Bienvenu T, ... Pubmed: 12180070	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3476	Bienvenu T, ... Pubmed: 12180070	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3477	Bienvenu T, ... Pubmed: 12180070	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3567	Li, ... Pubmed: 17089071	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3568	Li, ... Pubmed: 17089071	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3569	Li, ... Pubmed: 17089071	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3570	Li, ... Pubmed: 17089071	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3571	Li, ... Pubmed: 17089071	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3572	Li, ... Pubmed: 17089071	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3573	Li, ... Pubmed: 17089071	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3574	Li, ... Pubmed: 17089071	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3575	Li, ... Pubmed: 17089071	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3576	Li, ... Pubmed: 17089071	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3577	Li, ... Pubmed: 17089071	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3578	Li, ... Pubmed: 17089071	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3688	Fukuda, ... Pubmed: 15737703	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
3689	Fukuda, ... Pubmed: 15737703	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
3690	Fukuda, ... Pubmed: 15737703	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
3691	Fukuda, ... Pubmed: 15737703	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
3692	Fukuda, ... Pubmed: 15737703	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
3693	Fukuda, ... Pubmed: 15737703	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
3694	Fukuda, ... Pubmed: 15737703	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
3695	Fukuda, ... Pubmed: 15737703	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
3696	Fukuda, ... Pubmed: 15737703	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
3697	Fukuda, ... Pubmed: 15737703	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
3698	Fukuda, ... Pubmed: 15737703	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
3699	Fukuda, ... Pubmed: 15737703	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
3700	Fukuda, ... Pubmed: 15737703	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
3701	Fukuda, ... Pubmed: 15737703	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
3702	Fukuda, ... Pubmed: 15737703	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
3703	Fukuda, ... Pubmed: 15737703	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
3704	Fukuda, ... Pubmed: 15737703	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
3791	Inui, ... Pubmed: 11376998	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3815	Herman, ... Pubmed: 17505203	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
4067	Lee SSJ, ... Pubmed: 11738860	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
4140	Milunsky, ... Pubmed: 11960578	c.502C>T	p.R168X	nonsense	inter-domain region	Not known	Mutation associated with disease	F
4141	Milunsky, ... Pubmed: 11960578	c.502C>T	p.R168X	nonsense	inter-domain region	Not known	Mutation associated with disease	F
4142	Milunsky, ... Pubmed: 11960578	c.502C>T	p.R168X	nonsense	inter-domain region	Not known	Mutation associated with disease	F
4143	Milunsky, ... Pubmed: 11960578	c.502C>T	p.R168X	nonsense	inter-domain region	Not known	Mutation associated with disease	F
4144	Milunsky, ... Pubmed: 11960578	c.502C>T	p.R168X	nonsense	inter-domain region	Not known	Mutation associated with disease	F
4251	de Lima, ... Pubmed: 19722030	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
4252	de Lima, ... Pubmed: 19722030	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
4253	de Lima, ... Pubmed: 19722030	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
4254	de Lima, ... Pubmed: 19722030	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
4255	de Lima, ... Pubmed: 19722030	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
4256	de Lima, ... Pubmed: 19722030	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
4257	de Lima, ... Pubmed: 19722030	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
4258	de Lima, ... Pubmed: 19722030	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
4259	de Lima, ... Pubmed: 19722030	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
4260	de Lima, ... Pubmed: 19722030	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - Atypical	Mutation associated with disease	F
4305	Fendri-Kriaa, ... Pubmed: 20631224	c.502C>T	p.R168X	nonsense	MBD, inter-domain region, TRD, TRD-NLS, C-term	Rett syndrome - classical	Mutation associated with disease	F
4371	Monnerat, ... Pubmed: 20031356	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
4372	Monnerat, ... Pubmed: 20031356	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
4373	Monnerat, ... Pubmed: 20031356	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - Atypical	Mutation associated with disease	F
4461	Das, ...	c.502C>T	p.R168X	nonsense	inter-domain region	Not known	Mutation associated with disease	F
4462	Das, ...	c.502C>T	p.R168X	nonsense	inter-domain region	Not known	Mutation associated with disease	F
4463	Das, ...	c.502C>T	p.R168X	nonsense	inter-domain region	Not known	Mutation associated with disease	F
4464	Das, ...	c.502C>T	p.R168X	nonsense	inter-domain region	Not known	Mutation associated with disease	F
4465	Das, ...	c.502C>T	p.R168X	nonsense	inter-domain region	Not known	Mutation associated with disease	F
4715	Hadzsiev, ... Pubmed: 21160487	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
4716	Hadzsiev, ... Pubmed: 21160487	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
4811	Corbani, ... Pubmed: 21954873	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
4842	Psoni, ... Pubmed: 21982064	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
4843	Psoni, ... Pubmed: 21982064	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
4870	Zvereff, ... Pubmed: 22277191	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
4871	Zvereff, ... Pubmed: 22277191	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
4872	Zvereff, ... Pubmed: 22277191	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
4873	Zvereff, ... Pubmed: 22277191	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
5055	Das, ... Pubmed: 23262346	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
5056	Das, ... Pubmed: 23262346	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
5057	Das, ... Pubmed: 23262346	c.502C>T	p.R168X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
6737	Daniela�Zahorakova, ... Pubmed: 26984561	c.502C>T	p.R168*	nonsense	Inter-domain region	Not Rett synd. - mental retardation and autism combined	Mutation associated with disease	F
6501	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6500	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6499	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6498	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6497	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6496	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6495	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6494	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6493	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6492	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6491	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6490	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6489	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6488	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6487	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6486	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6485	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6484	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6483	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6482	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6481	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6480	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6479	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6478	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6477	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6476	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6475	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6474	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6473	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6472	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6471	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6470	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6469	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6468	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6467	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6466	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6465	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6464	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6463	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6462	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6461	Directly submitted	c.502C>T	p.R168X	nonsense	Inter-domain	Rett syndrome - classical	Mutation associated with disease	F
7020	Huong Le Thi Thanh , ... Pubmed: 30081849	c.502C > T		nonsense	Inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
7021	Huong Le Thi Thanh , ... Pubmed: 30081849	c.502C > T		nonsense	Inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
7033	Tsutomu Shioda , ... Pubmed: 29631775	c.502C>T		nonsense	Inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
6638	Directly submitted	c.506_507dupAG	p.Q170fs	frameshift insertion or deletion	Inter-domain	Not Rett synd. - inf enceph	Mutation associated with disease	M
301	Auranen, ... Pubmed: 11245712	c.508C>T	p.Q170X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
1078	Buyse, ... Pubmed: 11055898	c.508C>T	p.Q170X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1320	Laccone, ... Pubmed: 11241840	c.508C>T	p.Q170X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	U
3198	Philippe C, ... Pubmed: 16473305	c.508C>T	p.Q170X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3408	Yamashita Y, ... Pubmed: 11738864	c.508C>T	p.Q170X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
3478	Bienvenu T, ... Pubmed: 12180070	c.508C>T	p.Q170X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
3705	Fukuda, ... Pubmed: 15737703	c.508C>T	p.Q170X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
2746	Campos, ... Pubmed: 17084570	c.514C>T	p.P172S	missense	inter-domain region	Not Rett synd. - mental retardation and autism combined	Unknown	M
3937	Campos, ... Pubmed: 17084570	c.514C>T	p.P172S	missense	inter-domain region	Not Rett synd. - unaffected family member	Unknown	F
4179	Directly submitted	c.515C>T	p.P172L	missense	inter-domain region	Not Rett synd. - sporadic mental retardation	Polymorphism not causing disease	F
4180	Directly submitted	c.515C>T	p.P172L	missense	inter-domain region	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
1370	Laccone, ... Pubmed: 11241840	c.517C>G	p.P173A	Missense	Inter-domain region	Rett syndrome - Not certain	Unknown	U
4466	Das, ...	c.518C>G	p.P173R	missense	inter-domain region	Not known	Unknown	F
4467	Das, ...	c.518C>G	p.P173R	missense	inter-domain region	Not Rett synd. - unaffected family member	Unknown	F
4468	Das, ...	c.518C>G	p.P173R	missense	inter-domain region	Not known	Unknown	F
6590	Directly submitted	c.518C>G	p.P173R	missense	Inter-domain	Not Rett synd. - unaffected family member	Unknown	F
1679	Friez, ...	c.523A>T	p.K175X	Nonsense	Inter-domain region	Not known	Mutation associated with disease	F
1613	Bunyan, ...	c.527C>G	p.P176R	Missense	Inter-domain region	Rett syndrome - Not certain	Polymorphism not causing disease	M
1614	Bunyan, ...	c.527C>G	p.P176R	Missense	Inter-domain region	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
2652	Lesca, ... Pubmed: 17383248	c.527C>G	p.P176R	missense	inter-domain region	Not Rett synd. - sporadic mental retardation	Polymorphism not causing disease	U
3941	Fukuda, ... Pubmed: 15737703	c.527C>G	p.P176R	missense	inter-domain region	Rett syndrome - NK	Polymorphism not causing disease	F
3942	Fukuda, ... Pubmed: 15737703	c.527C>G	p.P176R	missense	inter-domain region	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
3943	Fukuda, ... Pubmed: 15737703	c.527C>G	p.P176R	missense	inter-domain region	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
3944	Fukuda, ... Pubmed: 15737703	c.527C>G	p.P176R	missense	inter-domain region	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
1674	Friez, ...	c.529A>T	p.K177X	Nonsense	Inter-domain region	Not known	Mutation associated with disease	F
1247	Huppke, ... Pubmed: 12075485	c.531delA	p.K177fs	Frameshift insertion or deletion	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
6588	Directly submitted	c.535C>T	p.P179S	missense	inter-domain	Not Rett synd. - mental retardation	Unknown	F
3199	Philippe C, ... Pubmed: 16473305	c.538A>T	p.K180X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
1564	Beyer, ... Pubmed: 12384770	c.542C>T	p.A181V	Missense	Inter-domain region	Not Rett synd. - autism only	Unknown	M
1565	Beyer, ... Pubmed: 12384770	c.542C>T	p.A181V	Missense	Inter-domain region	Not Rett synd. - Unaffected family member	Unknown	F
3745	Fukuda, ... Pubmed: 15737703	c.543_544delTC	p.P182fs	frameshift insertion or deletion	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
2771	Donzel-Javouhey, ... Pubmed: 16763963	c.547G>C	p.G183R	missense	inter-domain region	Not Rett synd. - mental retardation	Polymorphism not causing disease	F
3981	Donzel-Javouhey, ... Pubmed: 16763963	c.547G>C	p.G183R	missense	inter-domain region	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
1109	Buyse, ... Pubmed: 11055898	c.554delG	p.G185fs	Frameshift insertion or deletion	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1468	Vacca, ... Pubmed: 11269512	c.566delG	p.G189fs	Frameshift insertion or deletion	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
4374	Monnerat, ... Pubmed: 20031356	c.566dupG	p.R190fs	frameshift insertion or deletion	inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
1969	Mari F, ... Pubmed: 15691364	c.567dupA	p.R190fs	Frameshift insertion or deletion	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1970	Mari F, ... Pubmed: 15691364	c.567dupA	p.R190fs	Frameshift insertion or deletion	Inter-domain region	Not known	Mutation associated with disease	F
3022	Yntema HG, ... Pubmed: 12111644	c.573C>T	p.P191P	silent	inter-domain region	Not Rett synd. - mental retardation	Silent polymorphism	M
6738	Daniela�Zahorakova, ... Pubmed: 26984561	c.573delC	p.S194Afs*16	frameshift insertion or deletion	Inter-domain region	Rett syndrome - congenital onset	Mutation associated with disease	F
4874	Zvereff, ... Pubmed: 22277191	c.574A>T	p.K192X	nonsense	inter-domain region	Rett syndrome - classical	Mutation associated with disease	F
209	Orrico, ... Pubmed: 11007980	c.582C>T	p.S194S	Silent	Inter-domain region	Not Rett synd. - Sporadic mental retardation	Silent polymorphism	F
210	Orrico, ... Pubmed: 11007980	c.582C>T	p.S194S	Silent	Inter-domain region	Not Rett synd. - Sporadic mental retardation	Silent polymorphism	F
431	Directly submitted	c.582C>T	p.S194S	Silent	Inter-domain region	Rett syndrome - Atypical	Silent polymorphism	F
432	Directly submitted	c.582C>T	p.S194S	Silent	Inter-domain region	Not Rett synd. - Unaffected family member	Silent polymorphism	M
1006	Cheadle, ... Pubmed: 10767337	c.582C>T	p.S194S	Silent	Inter-domain region	Rett syndrome - Not certain	Silent polymorphism	U
1005	Cheadle, ... Pubmed: 10767337	c.582C>T	p.S194S	Silent	Inter-domain region	Rett syndrome - Not certain	Silent polymorphism	U
1004	Cheadle, ... Pubmed: 10767337	c.582C>T	p.S194S	Silent	Inter-domain region	Rett syndrome - Not certain	Silent polymorphism	U
1003	Cheadle, ... Pubmed: 10767337	c.582C>T	p.S194S	Silent	Inter-domain region	Rett syndrome - Not certain	Silent polymorphism	U
952	Bienvenu, ... Pubmed: 10814719	c.582C>T	p.S194S	Silent	Inter-domain region	Rett syndrome - Classical	Silent polymorphism	F
849	Amir, ... Pubmed: 10508514	c.582C>T	p.S194S	Silent	Inter-domain region	Not Rett synd. - Unaffected family member	Silent polymorphism	M
848	Amir, ... Pubmed: 10508514	c.582C>T	p.S194S	Silent	Inter-domain region	Rett syndrome - Not certain	Silent polymorphism	F
847	Amir, ... Pubmed: 10508514	c.582C>T	p.S194S	Silent	Inter-domain region	Rett syndrome - Not certain	Silent polymorphism	F
1124	Buyse, ... Pubmed: 11055898	c.582C>T	p.S194S	Silent	Inter-domain region	Rett syndrome - Not certain	Silent polymorphism	F
1125	Buyse, ... Pubmed: 11055898	c.582C>T	p.S194S	Silent	Inter-domain region	Rett syndrome - Not certain	Silent polymorphism	F
1193	Bourdon, ... Pubmed: 11214906	c.582C>T	p.S194S	Silent	Inter-domain region	Rett syndrome - Not certain	Silent polymorphism	U
1241	Huppke, ... Pubmed: 10814718	c.582C>T	p.S194S	Silent	Inter-domain region	Rett syndrome - Not certain	Silent polymorphism	F
1576	Beyer, ... Pubmed: 12384770	c.582C>T	p.S194S	Silent	Inter-domain region	Not Rett synd. - autism only	Silent polymorphism	F
1640	Bunyan, ...	c.582C>T	p.S194S	Silent	Inter-domain region	Rett syndrome - Not certain	Silent polymorphism	M
1811	Friez, ...	c.582C>T	p.S194S	Silent	Inter-domain region	Not known	Silent polymorphism	F
1891	Directly submitted	c.582C>T	p.S194S	Silent	Inter-domain region	Not Rett synd. - Sporadic mental retardation	Silent polymorphism	M
2037	Directly submitted	c.582C>T	p.S194S	Silent	Inter-domain region	Not known	Silent polymorphism	F
2044	Directly submitted	c.582C>T	p.S194S	Silent	Inter-domain region	Not known	Silent polymorphism	F
2401	Directly submitted	c.582C>T	p.S194S	Silent	Inter-domain region	Rett syndrome - Congenital onset	Silent polymorphism	F
2772	Donzel-Javouhey, ... Pubmed: 16763963	c.582C>T	p.S194S	silent	inter-domain region	Not Rett synd. - non-specfic mental retardation	Silent polymorphism	F
3023	Yntema HG, ... Pubmed: 12111644	c.582C>T	p.S194S	silent	inter-domain region	Not Rett synd. - mental retardation	Silent polymorphism	M
3024	Yntema HG, ... Pubmed: 12111644	c.582C>T	p.S194S	silent	inter-domain region	Not Rett synd. - mental retardation	Silent polymorphism	M
4200	Lobo-Menendez, ... Pubmed: 12555243	c.582C>T	p.S194S	silent	inter-domain region	Not Rett synd. - autism	Silent polymorphism	U
4273	de Lima, ... Pubmed: 19722030	c.582C>T	p.S194S	silent	inter-domain region	Rett syndrome - not certain	Silent polymorphism	F
4375	Monnerat, ... Pubmed: 20031356	c.582C>T	p.S194S	silent	inter-domain region	Not Rett synd. - unaffected family member	Silent polymorphism	F
4627	Piton, ... Pubmed: 20479760	c.582C>T	p.S194S	silent	inter-domain region	Not Rett synd. - normal control	Silent polymorphism	U
4628	Piton, ... Pubmed: 20479760	c.582C>T	p.S194S	silent	inter-domain region	Not Rett synd. - normal control	Silent polymorphism	U
4750	Hadzsiev, ... Pubmed: 21160487	c.582C>T	p.S194S	silent	inter-domain region	Rett syndrome - not certain	Silent polymorphism	F
5070	Das, ... Pubmed: 23262346	c.582C>T	p.S194S	silent	inter-domain region	Rett syndrome - not certain	Silent polymorphism	F
5186	Maortua, ... Pubmed: 23810759	c.582C>T	p.S194S	silent	inter-domain region	Rett syndrome - not certain	Silent polymorphism	F
5187	Maortua, ... Pubmed: 23810759	c.582C>T	p.S194S	silent	inter-domain region	Not Rett synd. - normal control	Silent polymorphism	U
5188	Maortua, ... Pubmed: 23810759	c.582C>T	p.S194S	silent	inter-domain region	Not Rett synd. - normal control	Silent polymorphism	U
6853	Daniela�Zahorakova, ... Pubmed: 26984561	c.582C>T	p.S194S	silent	inter-domain region	Not Rett synd. - autism	Silent polymorphism	F
6854	Daniela�Zahorakova, ... Pubmed: 26984561	c.582C>T	p.S194S	silent	inter-domain region	Not Rett synd. - mental retardation	Silent polymorphism	F
2136	Cardiff, ...	c.585C>T	p.G195G	Silent	Inter-domain region	Not known	Silent polymorphism	F
2368	Akane Shibayama, ... Pubmed: 15211631	c.587C>G	p.T196S	Missense	Inter-domain region	Not Rett synd. - Schizophrenia	Polymorphism not causing disease	F
2632	Zahorakova, ... Pubmed: 17387578	c.587C>G	p.T196S	missense	inter-domain region	Rett syndrome - Classical	Polymorphism not causing disease	F
3029	Yntema HG, ... Pubmed: 12111644	c.587C>G	p.T196S	missense	inter-domain region	Not Rett synd. - mental retardation	Polymorphism not causing disease	M
3030	Yntema HG, ... Pubmed: 12111644	c.587C>G	p.T196S	missense	inter-domain region	Not Rett synd. - mental retardation	Polymorphism not causing disease	M
3031	Yntema HG, ... Pubmed: 12111644	c.587C>G	p.T196S	missense	inter-domain region	Not Rett synd. - mental retardation	Polymorphism not causing disease	M
3975	Zahorakova, ... Pubmed: 17387578	c.587C>G	p.T196S	missense	inter-domain region	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
4051	Yntema HG, ... Pubmed: 12111644	c.587C>G	p.T196S	missense	inter-domain region	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
4052	Yntema HG, ... Pubmed: 12111644	c.587C>G	p.T196S	missense	inter-domain region	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
4053	Yntema HG, ... Pubmed: 12111644	c.587C>G	p.T196S	missense	inter-domain region	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
4054	Yntema HG, ... Pubmed: 12111644	c.587C>G	p.T196S	missense	inter-domain region	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
4055	Yntema HG, ... Pubmed: 12111644	c.587C>G	p.T196S	missense	inter-domain region	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
4056	Yntema HG, ... Pubmed: 12111644	c.587C>G	p.T196S	missense	inter-domain region	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	F
4621	Piton, ... Pubmed: 20479760	c.587C>G	p.T196S	missense	inter-domain region	Not Rett synd. - schizophrenia	Polymorphism not causing disease	U
6855	Daniela�Zahorakova, ... Pubmed: 26984561	c.587C>G	p.T196S	Missense	inter-domain region	Not Rett synd. - mental retardation	Polymorphism not causing disease	F
46	Hoffbuhr, ... Pubmed: 11402105	c.590C>T	p.T197M	Missense	Inter-domain region	Rett syndrome - Not certain	Polymorphism not causing disease	F
373	Directly submitted	c.590C>T	p.T197M	Missense	Inter-domain region	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	M
375	Directly submitted	c.590C>T	p.T197M	Missense	Inter-domain region	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
376	Directly submitted	c.590C>T	p.T197M	Missense	Inter-domain region	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
1534	Laccone, ... Pubmed: 12161600	c.590C>T	p.T197M	Missense	Inter-domain region	Not Rett synd. - not certain	Polymorphism not causing disease	M
1535	Laccone, ... Pubmed: 12161600	c.590C>T	p.T197M	Missense	Inter-domain region	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
2124	Cardiff, ...	c.590C>T	p.T197M	Missense	Inter-domain region	Not known	Polymorphism not causing disease	F
2747	Campos, ... Pubmed: 17084570	c.590C>T	p.T197M	missense	inter-domain region	Not Rett synd. - mental retardation	Polymorphism not causing disease	M
3515	Bienvenu T, ... Pubmed: 12180070	c.590C>T	p.T197M	missense	inter-domain region	Rett syndrome - not certain	Polymorphism not causing disease	F
3938	Campos, ... Pubmed: 17084570	c.590C>T	p.T197M	missense	inter-domain region	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
3939	Campos, ... Pubmed: 17084570	c.590C>T	p.T197M	missense	inter-domain region	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
4858	Psoni, ... Pubmed: 21982064	c.590C>T	p.T197M	missense	inter-domain region	Rett syndrome - classical	Polymorphism not causing disease	F
5076	Wang, ... Pubmed: 23591336	c.590C>T	p.T197M	missense	inter-domain region	Not Rett synd. - autism	Polymorphism not causing disease	M
6908	Directly submitted	c.590C>T	p.Thr197Met	missense	Inter-domain region	Not Rett synd.	Polymorphism not causing disease	F
2375	Akane Shibayama, ... Pubmed: 15211631	c.591G>A	p.T197T	Silent	Inter-domain region	Not Rett synd. - autism only	Silent polymorphism	M
930	Bienvenu, ... Pubmed: 10814719	c.592A>T	p.R198X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
3200	Philippe C, ... Pubmed: 16473305	c.592A>T	p.R198X	nonsense	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
4620	Piton, ... Pubmed: 20479760	c.596C>A	p.P199H	missense	inter-domain region	Not Rett synd. - schizophrenia	Unknown	F
430	Directly submitted	c.598A>T	p.K200X	Nonsense	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
1862	Bunyan, ...	c.598A>T	p.K200X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
135	Amano, ... Pubmed: 10944854	c.601dupG	p.A201fs	Frameshift insertion or deletion	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	U
141	Amano, ... Pubmed: 10944854	c.602C>T	p.A201V	Missense	Inter-domain region	Rett syndrome - Not certain	Polymorphism not causing disease	U
151	Amano, ... Pubmed: 10944854	c.602C>T	p.A201V	Missense	Inter-domain region	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
1385	Lam, ... Pubmed: 11106359	c.602C>T	p.A201V	Missense	Inter-domain region	Not known	Polymorphism not causing disease	F
1430	Nicolao, ... Pubmed: 11462237	c.602C>T	p.A201V	Missense	Inter-domain region	Rett syndrome - Classical	Polymorphism not causing disease	F
1599	Bunyan, ...	c.602C>T	p.A201V	Missense	Inter-domain region	Rett syndrome - Not certain	Polymorphism not causing disease	F
1600	Bunyan, ...	c.602C>T	p.A201V	Missense	Inter-domain region	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
1973	Tero Ylisaukko-oja, ... Pubmed: 15578581	c.602C>T	p.A201V	Missense	Inter-domain region	Not Rett synd. - Sporadic mental retardation	Polymorphism not causing disease	M
2665	Coutinho, ... Pubmed: 17427193	c.602C>T	p.A201V	missense	inter-domain region	Not Rett synd. - Autism	Polymorphism not causing disease	M
2748	Campos, ... Pubmed: 17084570	c.602C>T	p.A201V	missense	inter-domain region	Not Rett synd. - mental retardation	Polymorphism not causing disease	M
2749	Campos, ... Pubmed: 17084570	c.602C>T	p.A201V	missense	inter-domain region	Not Rett synd. - mental retardation	Polymorphism not causing disease	M
2750	Campos, ... Pubmed: 17084570	c.602C>T	p.A201V	missense	inter-domain region	Not Rett synd. - mental retardation	Polymorphism not causing disease	M
2767	Moog, ... Pubmed: 16376510	c.602C>T	p.A201V	missense	inter-domain region	Not Rett synd. - mental retardation	Polymorphism not causing disease	M
2813	Kim, ... Pubmed: 16672765	c.602C>T	p.A201V	missense	inter-domain region	Rett syndrome - classical	Polymorphism not causing disease	F
3081	Giunti L, ... Pubmed: 11738883	c.602C>T	p.A201V	missense	inter-domain region	Rett syndrome - not certain	Polymorphism not causing disease	F
3516	Bienvenu T, ... Pubmed: 12180070	c.602C>T	p.A201V	missense	inter-domain region	Rett syndrome - not certain	Polymorphism not causing disease	F
3804	Wong, ... Pubmed: 18174559	c.602C>T	p.A201V	missense	inter-domain region	Rett syndrome - classical	Polymorphism not causing disease	F
3808	Wong, ... Pubmed: 18174559	c.602C>T	p.A201V	missense	inter-domain region	Not Rett synd. - autism	Polymorphism not causing disease	M
3929	Moog, ... Pubmed: 16376510	c.602C>T	p.A201V	missense	inter-domain region	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
3952	Fukuda, ... Pubmed: 15737703	c.602C>T	p.A201V	missense	inter-domain region	Rett syndrome - NK	Polymorphism not causing disease	F
3953	Fukuda, ... Pubmed: 15737703	c.602C>T	p.A201V	missense	inter-domain region	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
3954	Fukuda, ... Pubmed: 15737703	c.602C>T	p.A201V	missense	inter-domain region	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
3955	Fukuda, ... Pubmed: 15737703	c.602C>T	p.A201V	missense	inter-domain region	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
3956	Fukuda, ... Pubmed: 15737703	c.602C>T	p.A201V	missense	inter-domain region	Rett syndrome - NK	Polymorphism not causing disease	F
3957	Fukuda, ... Pubmed: 15737703	c.602C>T	p.A201V	missense	inter-domain region	Rett syndrome - NK	Polymorphism not causing disease	F
4751	Hadzsiev, ... Pubmed: 21160487	c.602C>T	p.A201V	missense	inter-domain region	Rett syndrome - not certain	Polymorphism not causing disease	F
5069	Das, ... Pubmed: 23262346	c.602C>T	p.A201V	missense	inter-domain region	Rett syndrome - not certain	Polymorphism not causing disease	F
5077	Wang, ... Pubmed: 23591336	c.602C>T	p.A201V	missense	inter-domain region	Not Rett synd. - autism	Polymorphism not causing disease	M
5078	Wang, ... Pubmed: 23591336	c.602C>T	p.A201V	missense	inter-domain region	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
5079	Wang, ... Pubmed: 23591336	c.602C>T	p.A201V	missense	inter-domain region	Not Rett synd. - depressive disease	Polymorphism not causing disease	M
6898	Directly submitted	c.602C>T	p.Ala213Val	missense	TRD	Not known	Polymorphism not causing disease	M
4391	Monnerat, ... Pubmed: 20031356	c.603G>A	p.A201A	silent	inter-domain region	Not Rett synd. - normal control	Silent polymorphism	F
5330	Xiao Zhou, ...	c.605G>A	p.Arg202His	Missense	Inter-domain	Rett syndrome - atypical	Unknown	F
217	Orrico, ... Pubmed: 11007980	c.608C>T	p.T203M	Missense	Inter-domain region	Rett syndrome - atypical	Polymorphism not causing disease	F
1126	Buyse, ... Pubmed: 11055898	c.608C>T	p.T203M	Missense	Inter-domain region	Rett syndrome - Not certain	Polymorphism not causing disease	F
1371	Laccone, ... Pubmed: 11241840	c.608C>T	p.T203M	Missense	Inter-domain region	Rett syndrome - Not certain	Polymorphism not causing disease	U
1547	Buyse, ... Pubmed: 11055898	c.608C>T	p.T203M	Missense	Inter-domain region	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	M
1850	Bunyan, ...	c.608C>T	p.T203M	Missense	Inter-domain region	Rett syndrome - Not certain	Polymorphism not causing disease	F
1851	Bunyan, ...	c.608C>T	p.T203M	Missense	Inter-domain region	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	M
2123	Cardiff, ...	c.608C>T	p.T203M	Missense	Inter-domain region	Not known	Polymorphism not causing disease	F
3262	Philippe C, ... Pubmed: 16473305	c.608_609insA	p.S204fs	frameshift insertion or deletion	inter-domain region	Rett syndrome - not certain	Mutation associated with disease	F
4222	Psoni, ... Pubmed: 20098342	c.608C>T	p.T203M	missense	inter-domain region	Rett syndrome - male variant	Polymorphism not causing disease	M
4471	Das, ...	c.608C>T	p.T203M	missense	inter-domain region	Not known	Polymorphism not causing disease	F
4472	Das, ...	c.608C>T	p.T203M	missense	inter-domain region	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
4473	Das, ...	c.608C>T	p.T203M	missense	inter-domain region	Not known	Polymorphism not causing disease	F
4752	Hadzsiev, ... Pubmed: 21160487	c.608C>T	p.T203M	missense	inter-domain region	Rett syndrome - not certain	Polymorphism not causing disease	F
4859	Psoni, ... Pubmed: 21982064	c.608C>T	p.T203M	missense	inter-domain region	Rett syndrome - atypical	Polymorphism not causing disease	F
4860	Psoni, ... Pubmed: 21982064	c.608C>T	p.T203M	missense	inter-domain region	Not Rett synd. - mental retardation	Polymorphism not causing disease	M
6911	Directly submitted	c.608C>T	p.Thr203Met	missense	Inter-domain region	Not Rett synd. - not certain	Polymorphism not causing disease	M
2751	Campos, ... Pubmed: 17084570	c.609G>A	p.T203T	silent	inter-domain region	Not Rett synd. - mental retardation	Silent polymorphism	M
1079	Buyse, ... Pubmed: 11055898	c.611C>G	p.S204X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1726	Friez, ...	c.611C>G	p.S204X	Nonsense	Inter-domain region	Not known	Mutation associated with disease	F
1873	Bunyan, ...	c.611_612delinsAG	p.S204X	frameshift combined insertion and deletion	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1943	Schanen, ... Pubmed: 15057977	c.611C>G	p.S204X	Nonsense	Inter-domain region	Rett syndrome - atypical	Mutation associated with disease	F
2596	Zahorakova, ... Pubmed: 17387578	c.611C>G	p.S204X	nonsense	inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
6587	Directly submitted	c.611C>A	p.S204X	nonsense	inter-domain	Rett syndrome - classical	Mutation associated with disease	F
6586	Directly submitted	c.611C>G	p.S204X	nonsense	inter-domain	Rett syndrome - classical	Mutation associated with disease	F
276	Trappe, ... Pubmed: 11309679	c.613G>T	p.E205X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	F
1321	Laccone, ... Pubmed: 11241840	c.613G>T	p.E205X	Nonsense	Inter-domain region	Rett syndrome - Not certain	Mutation associated with disease	U
3749	Fukuda, ... Pubmed: 15737703	c.616_1122del507	p.G206_E374del	inframe insertion or deletion	inter-domain region, TRD, TRD-NLS, C-term	Rett syndrome - classical	Mutation associated with disease	F
2091	Cardiff, ...	c.617delG	p.G206fs	Frameshift insertion or deletion	Inter-domain region	Rett syndrome - Classical	Mutation associated with disease	F
2666	Coutinho, ... Pubmed: 17427193	c.617G>C	p.G206A	missense	inter-domain region	Not Rett synd. - Autism	Unknown	M
6900	Directly submitted	c.617G>C	p.Gly218Ala	missense	TRD	Not known	Unknown	F
843	Amir, ... Pubmed: 10508514	c.620dupT	p.Q208fs	Frameshift insertion or deletion	TRD	Rett syndrome - Classical	Mutation associated with disease	U
1449	Vacca, ... Pubmed: 11269512	c.622C>T	p.Q208X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
4632	Piton, ... Pubmed: 20479760	c.627G>A	p.V209V	silent	TRD	Not Rett synd. - normal control	Silent polymorphism	U
1301	Laccone, ... Pubmed: 11241840	c.629A>T	p.K210I	Missense	TRD	Rett syndrome - Not certain	Unknown	U
3786	Ariani F, ... Pubmed: 15241799	c.631-?_657+?del	p.?	exonic deletion	MBD	Rett syndrome - classical	Mutation associated with disease	F
3787	Ariani F, ... Pubmed: 15241799	c.631-?_657+?dup	p.?	exonic duplication	MBD	Rett syndrome - preserved speech	Unknown	F
2134	Cardiff, ...	c.633G>C	p.R211S	Missense	TRD	Rett syndrome - Classical	Polymorphism not causing disease	F
2135	Cardiff, ...	c.633G>C	p.R211S	Missense	TRD	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	M
5189	Maortua, ... Pubmed: 23810759	c.633G>C	p.R211S	missense	TRD	Not Rett synd. - normal control	Polymorphism not causing disease	U
1248	Huppke, ... Pubmed: 12075485	c.635_655del21	p.V212_K219delinsE	In-frame insertion or deletion	TRD	Rett syndrome - Not certain	Unknown	F
1774	Friez, ...	c.651_652delTG	p.G218fs	Frameshift insertion or deletion	TRD	Not known	Mutation associated with disease	F
2542	Matijevic, ... Pubmed: 17341617	c.651_652delTG	p.G218fs	frameshift insertion or deletion	TRD	Rett syndrome - not certain	Mutation associated with disease	F
2103	Cardiff, ...	c.654_657delGAAG	p.K219fs	Frameshift insertion or deletion	TRD	Rett syndrome - Classical	Mutation associated with disease	F
3809	Wong, ... Pubmed: 18174559	c.660C>T	p.L220L	silent	TRD	Not Rett synd. - autism	Silent polymorphism	F
2421	Directly submitted	c.666C>G	p.V222V	Silent	TRD	Rett syndrome - Preserved speech	Silent polymorphism	F
2520	Tejada M-I, ... Pubmed: 16879196	c.666C>G	p.V222V	Silent	TRD	Not Rett synd. - Sporadic mental retardation	Silent polymorphism	M
4274	de Lima, ... Pubmed: 19722030	c.666C>G	p.V222V	silent	TRD	Rett syndrome - not certain	Silent polymorphism	F
6612	Directly submitted	c.667A>T	p.K223X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
4318	Raizis, ... Pubmed: 19652677	c.669_686conAL078639.5:g.94544_94611	p.K223NfsX12	frameshift insertion or deletion	TRD, TRD-NLS, C-term	Rett syndrome - not certain	Mutation associated with disease	F
4474	Das, ...	c.673C>A	p.P225T	missense	TRD	Not known	Mutation associated with disease	F
302	Auranen, ... Pubmed: 11245712	c.674C>G	p.P225R	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
335	De Bona, ... Pubmed: 10854091	c.674C>G	p.P225R	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1249	Huppke, ... Pubmed: 12075485	c.674C>G	p.P225R	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1250	Huppke, ... Pubmed: 12075485	c.674C>G	p.P225R	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1251	Huppke, ... Pubmed: 12075485	c.674C>G	p.P225R	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1523	Yamada, ... Pubmed: 11524741	c.674C>G	p.P225R	Missense	TRD	Rett syndrome - atypical	Mutation associated with disease	U
1634	Bunyan, ...	c.674C>G	p.P225R	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1651	Directly submitted	c.674C>G	p.P225R	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1659	Moog, ... Pubmed: 12615169	c.674C>T	p.P225L	Missense	TRD	Rett syndrome - Male variant	Unknown	M
2173	Cardiff, ...	c.674C>G	p.P225R	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2429	Monros, ... Pubmed: 11738885	c.674C>T	p.P225L	Missense	TRD	Rett syndrome - Classical	Unknown	F
2489	Peter Huppke, ... Pubmed: 16690727	c.674C>G	p.P225R	Missense	TRD	Not known	Mutation associated with disease	F
2597	Zahorakova, ... Pubmed: 17387578	c.674C>G	p.P225R	missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
3000	Pan, ... Pubmed: 12111643	c.674C>G	p.P225R	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3138	Philippe C, ... Pubmed: 16473305	c.674C>G	p.P225R	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3139	Philippe C, ... Pubmed: 16473305	c.674C>G	p.P225R	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3451	Bienvenu T, ... Pubmed: 12180070	c.674C>G	p.P225R	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3558	Li, ... Pubmed: 17089071	c.674C>G	p.P225R	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
4746	Hadzsiev, ... Pubmed: 21160487	c.674C>G	p.P225R	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
4812	Corbani, ... Pubmed: 21954873	c.674C>G	p.P225R	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6739	Daniela�Zahorakova, ... Pubmed: 26984561	c.674C>G	p.P225R	missense	TRD	Not known	Mutation associated with disease	F
6585	Directly submitted	c.674C>G	p.P225R	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3263	Philippe C, ... Pubmed: 16473305	c.676_677insA	p.F226fs	frameshift insertion or deletion	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3264	Philippe C, ... Pubmed: 16473305	c.676_677insA	p.F226fs	frameshift insertion or deletion	TRD	Rett syndrome - not certain	Mutation associated with disease	F
944	Bienvenu, ... Pubmed: 10814719	c.677_678insA	p.F226fs	Frameshift insertion or deletion	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2660	Lesca, ... Pubmed: 17383248	c.679C>G	p.Q227E	missense	TRD	Not Rett synd. - sporadic mental retardation	Unknown	F
6584	Directly submitted	c.679C>T	p.Q227X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
1632	Bunyan, ...	c.683C>G	p.T228S	Missense	TRD	Rett syndrome - Not certain	Polymorphism not causing disease	F
2752	Campos, ... Pubmed: 17084570	c.683C>G	p.T228S	missense	TRD	Not Rett synd. - mental retardation	Polymorphism not causing disease	M
3032	Yntema HG, ... Pubmed: 12111644	c.683C>G	p.T228S	missense	TRD	Not Rett synd. - mental retardation	Polymorphism not causing disease	M
4057	Yntema HG, ... Pubmed: 12111644	c.683C>G	p.T228S	missense	TRD	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
5190	Maortua, ... Pubmed: 23810759	c.683C>G	p.T228S	missense	TRD	Not Rett synd. - normal control	Polymorphism not causing disease	U
6857	Daniela�Zahorakova, ... Pubmed: 26984561	c.683C>G	p.T228S	Missense	TRD	Rett syndrome - classical	Polymorphism not causing disease	F
6856	Daniela�Zahorakova, ... Pubmed: 26984561	c.683C>G	p.T228S	Missense	TRD	Not Rett synd. - mental retardation	Polymorphism not causing disease	F
1011	Cheadle, ... Pubmed: 10767337	c.686C>T	p.S229L	Missense	TRD	Rett syndrome - Classical	Polymorphism not causing disease	F
1222	Cheadle, ... Pubmed: 10767337	c.686C>T	p.S229L	Missense	TRD	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	M
2633	Zahorakova, ... Pubmed: 17387578	c.686C>T	p.S229L	missense	TRD	Rett syndrome - Classical	Polymorphism not causing disease	F
3025	Yntema HG, ... Pubmed: 12111644	c.686C>T	p.S229L	missense	TRD	Not Rett synd. - mental retardation	Polymorphism not causing disease	M
4475	Das, ...	c.686C>A	p.S229X	nonsense	TRD	Not known	Mutation associated with disease	F
4476	Das, ...	c.686C>T	p.S229L	missense	TRD	Not known	Polymorphism not causing disease	F
4477	Das, ...	c.686C>T	p.S229L	missense	TRD	Not known	Polymorphism not causing disease	M
4478	Das, ...	c.689_756del68	p.P230fs	frameshift insertion or deletion	TRD	Not known	Mutation associated with disease	F
2128	Cardiff, ...	c.690A>C	p.P230P	Silent	TRD	Not known	Silent polymorphism	F
2129	Cardiff, ...	c.690A>C	p.P230P	Silent	TRD	Not Rett synd. - Unaffected family member	Silent polymorphism	M
186	Obata, ... Pubmed: 10991688	c.695delG	p.G232fs	Frameshift insertion or deletion	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1952	Schanen, ... Pubmed: 15057977	c.695delG	p.G232fs	Frameshift insertion or deletion	TRD	Rett syndrome - atypical	Mutation associated with disease	F
2092	Cardiff, ...	c.695delG	p.G232fs	Frameshift insertion or deletion	TRD	Rett syndrome - Classical	Mutation associated with disease	F
3409	Yamashita Y, ... Pubmed: 11738864	c.695delG	p.G232fs	frameshift insertion or deletion	TRD	Rett syndrome - classical	Mutation associated with disease	F
3755	Fukuda, ... Pubmed: 15737703	c.695delG	p.G232fs	frameshift insertion or deletion	TRD	Rett syndrome - classical	Mutation associated with disease	F
3958	Fukuda, ... Pubmed: 15737703	c.695G>C	p.G232A	missense	TRD	Rett syndrome - NK	Polymorphism not causing disease	F
3959	Fukuda, ... Pubmed: 15737703	c.695G>C	p.G232A	missense	TRD	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
3960	Fukuda, ... Pubmed: 15737703	c.695G>C	p.G232A	missense	TRD	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
3961	Fukuda, ... Pubmed: 15737703	c.695G>C	p.G232A	missense	TRD	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
3962	Fukuda, ... Pubmed: 15737703	c.695G>C	p.G232A	missense	TRD	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
3963	Fukuda, ... Pubmed: 15737703	c.695G>C	p.G232A	missense	TRD	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
3964	Fukuda, ... Pubmed: 15737703	c.695G>C	p.G232A	missense	TRD	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
3965	Fukuda, ... Pubmed: 15737703	c.695G>C	p.G232A	missense	TRD	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
3966	Fukuda, ... Pubmed: 15737703	c.695G>C	p.G232A	missense	TRD	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
3967	Fukuda, ... Pubmed: 15737703	c.695G>C	p.G232A	missense	TRD	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
3968	Fukuda, ... Pubmed: 15737703	c.695G>C	p.G232A	missense	TRD	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
3969	Fukuda, ... Pubmed: 15737703	c.695G>C	p.G232A	missense	TRD	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
3970	Fukuda, ... Pubmed: 15737703	c.695G>C	p.G232A	missense	TRD	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
3971	Fukuda, ... Pubmed: 15737703	c.695G>C	p.G232A	missense	TRD	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
3972	Fukuda, ... Pubmed: 15737703	c.695G>C	p.G232A	missense	TRD	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
3973	Fukuda, ... Pubmed: 15737703	c.695G>C	p.G232A	missense	TRD	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
3974	Fukuda, ... Pubmed: 15737703	c.695G>C	p.G232A	missense	TRD	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4317	Raizis, ... Pubmed: 19652677	c.695dupG	p.K233fs	frameshift insertion or deletion	TRD	Rett syndrome - not certain	Mutation associated with disease	F
6635	Directly submitted	c.695dupG	p.K233fs	frameshift insertion or deletion	TRD	Rett syndrome - classical	Mutation associated with disease	F
7009	Rania Ghorbel , ... Pubmed: 29421650	[c.695 G > T; c.880C > T]		missense,nonsense	TRD	Rett syndrome	Mutation associated with disease	F
187	Obata, ... Pubmed: 10991688	c.696delC	p.K233fs	Frameshift insertion or deletion	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1423	Nicolao, ... Pubmed: 11462237	c.696delC	p.K233fs	Frameshift insertion or deletion	TRD	Rett syndrome - Classical	Mutation associated with disease	F
3265	Philippe C, ... Pubmed: 16473305	c.696delC	p.K233fs	frameshift insertion or deletion	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3756	Fukuda, ... Pubmed: 15737703	c.696delC	p.K233fs	frameshift insertion or deletion	TRD	Rett syndrome - classical	Mutation associated with disease	F
4376	Monnerat, ... Pubmed: 20031356	c.696delC	p.K233fs	frameshift insertion or deletion	TRD	Rett syndrome - Classical	Mutation associated with disease	F
32	Hoffbuhr, ... Pubmed: 11402105	c.710dupG	p.G238fs	Frameshift insertion or deletion	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
386	Directly submitted	c.710dupG	p.G238fs	Frameshift insertion or deletion	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1110	Buyse, ... Pubmed: 11055898	c.710delG	p.G237fs	Frameshift insertion or deletion	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1358	Laccone, ... Pubmed: 11241840	c.710delG	p.G237fs	Frameshift insertion or deletion	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1359	Laccone, ... Pubmed: 11241840	c.710delG	p.G237fs	Frameshift insertion or deletion	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1360	Laccone, ... Pubmed: 11241840	c.710delG	p.G237fs	Frameshift insertion or deletion	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1424	Nicolao, ... Pubmed: 11462237	c.710dupG	p.G238fs	Frameshift insertion or deletion	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1598	Bunyan, ...	c.710delG	p.G237fs	Frameshift insertion or deletion	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1734	Friez, ...	c.710delG	p.G237fs	Frameshift insertion or deletion	TRD	Not known	Mutation associated with disease	F
1795	Friez, ...	c.710dupG	p.G238fs	Frameshift insertion or deletion	TRD	Not known	Mutation associated with disease	F
1871	Bunyan, ...	c.710delG	p.G237fs	Frameshift insertion or deletion	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
2093	Cardiff, ...	c.710delG	p.G237fs	Frameshift insertion or deletion	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2896	Djarmati, ... Pubmed: 17986102	c.710dupG	p.G238fs	frameshift insertion or deletion	TRD	Rett syndrome - classical	Mutation associated with disease	F
3597	Li, ... Pubmed: 17089071	c.710delG	p.G237fs	frameshift insertion or deletion	TRD	Rett syndrome - not certain	Mutation associated with disease	F
4070	Lee SSJ, ... Pubmed: 11738860	c.710delG	p.G237fs	frameshift insertion or deletion	TRD	Rett syndrome - not certain	Mutation associated with disease	F
4182	Fleilinger, ... Pubmed: 19724012	c.710delG	p.G237fs	frameshift insertion or deletion	TRD	Rett syndrome - classical	Mutation associated with disease	F
4706	Hadzsiev, ... Pubmed: 21160487	c.710delG	p.G237fs	frameshift insertion or deletion	TRD	Rett syndrome - not certain	Mutation associated with disease	F
5066	Das, ... Pubmed: 23262346	c.710dupG	p.G238fs	frameshift insertion or deletion	TRD	Rett syndrome - not certain	Mutation associated with disease	F
6633	Directly submitted	c.710dupG	p.G238fs	frameshift insertion or deletion	TRD	Rett syndrome - classical	Mutation associated with disease	F
6632	Directly submitted	c.710delG	p.G237fs	frameshift insertion or deletion	TRD	Rett syndrome - classical	Mutation associated with disease	F
3266	Philippe C, ... Pubmed: 16473305	c.711_1269del559	p.G238fs	frameshift insertion or deletion	TRD	Rett syndrome - not certain	Mutation associated with disease	F
1787	Friez, ...	c.715delG	p.A239fs	Frameshift insertion or deletion	TRD	Not known	Mutation associated with disease	F
7027	Huong Le Thi Thanh , ... Pubmed: 30081849	c.717del C		frameshift insertion or deletion	TRD	Rett syndrome - classical	Mutation associated with disease	F
285	Trappe, ... Pubmed: 11309679	c.720dupC	p.T241fs	Frameshift insertion or deletion	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
2132	Cardiff, ...	c.720C>T	p.T240T	Silent	TRD	Not known	Silent polymorphism	F
2133	Cardiff, ...	c.720C>T	p.T240T	Silent	TRD	Not Rett synd. - Unaffected family member	Silent polymorphism	M
2395	Michele Zappella, ... Pubmed: 12707946	c.720C>G	p.T240T	Silent	TRD	Not Rett synd. - autism only	Silent polymorphism	F
2396	Michele Zappella, ... Pubmed: 12707946	c.720C>G	p.T240T	Silent	TRD	Not Rett synd. - Unaffected family member	Silent polymorphism	F
31	Hoffbuhr, ... Pubmed: 11402105	c.730C>T	p.Q244X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
2192	Cardiff, ...	c.730C>T	p.Q244X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2193	Cardiff, ...	c.730C>T	p.Q244X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
6583	Directly submitted	c.730C>T	p.Q244X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
255	Bourdon, ... Pubmed: 11214906	c.731_1166del436	p.Q244fs	Frameshift insertion or deletion	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
2887	Djarmati, ... Pubmed: 17986102	c.734_759del26	p.V245fs	frameshift insertion or deletion	TRD	Rett syndrome - classical	Mutation associated with disease	F
1425	Nicolao, ... Pubmed: 11462237	c.736_737insAT	p.M246fs	Frameshift insertion or deletion	TRD	Rett syndrome - Classical	Mutation associated with disease	F
4479	Das, ...	c.736_743delinsGTG	p.M246fs	frameshift combined insertion and deletion	TRD	Not known	Mutation associated with disease	F
1930	Schanen, ... Pubmed: 15057977	c.739delG	p.V247fs	Frameshift insertion or deletion	TRD	Rett syndrome - classical	Mutation associated with disease	F
256	Bourdon, ... Pubmed: 11214906	c.747_751dup5	p.P251fs	Frameshift insertion or deletion	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
33	Hoffbuhr, ... Pubmed: 11402105	c.748dupC	p.R250fs	Frameshift insertion or deletion	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1866	Bunyan, ...	c.748dupC	p.R250fs	Frameshift insertion or deletion	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1872	Bunyan, ...	c.748_753del6insGGCCG	p.R250fs	Frameshift combined insertion and deletion	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
3267	Philippe C, ... Pubmed: 16473305	c.748_749insT	p.R250fs	frameshift insertion or deletion	TRD	Rett syndrome - not certain	Mutation associated with disease	F
1852	Bunyan, ...	c.749G>A	p.R250H	Missense	TRD	Rett syndrome - Not certain	Polymorphism not causing disease	F
1853	Bunyan, ...	c.749G>A	p.R250H	Missense	TRD	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	M
1238	Erlandson, ... Pubmed: 11469283	c.750C>T	p.R250R	Silent	TRD	Not Rett synd. - Unaffected family member	Silent polymorphism	F
1380	Lam, ... Pubmed: 11106359	c.750_750delCinsTCAGGAAGCTT	p.P251fs	Frameshift combined insertion and deletion	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1633	Bunyan, ...	c.750C>T	p.R250R	Silent	TRD	Rett syndrome - Not certain	Silent polymorphism	F
5191	Maortua, ... Pubmed: 23810759	c.750C>T	p.R250R	silent	TRD	Not Rett synd. - normal control	Silent polymorphism	U
149	Amano, ... Pubmed: 10944854	c.752C>T	p.P251L	Missense	TRD	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	M
1112	Buyse, ... Pubmed: 11055898	c.752_753dupCC	p.G252fs	Frameshift insertion or deletion	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
2047	Directly submitted	c.752_753dupCC	p.G252fs	frameshift insertion or deletion	TRD	Not known	Mutation associated with disease	M
4480	Das, ...	c.752_753dupCC	p.G252fs	frameshift insertion or deletion	TRD	Not known	Mutation associated with disease	F
6903	Directly submitted	c.752C>G	p.Pro251Arg	missense	TRD	Not known	Unknown	F
369	Directly submitted	c.753dupC	p.G252fs	Frameshift insertion or deletion	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1111	Buyse, ... Pubmed: 11055898	c.753delC	p.G252fs	Frameshift insertion or deletion	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1199	Ben Zeev, ... Pubmed: 11913564	c.753dupC	p.G252fs	Frameshift insertion or deletion	TRD	Not Rett synd. - Progressive encephalopathy of neonatal onset	Mutation associated with disease	M
1200	Ben Zeev, ... Pubmed: 11913564	c.753dupC	p.G252fs	Frameshift insertion or deletion	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1252	Huppke, ... Pubmed: 12075485	c.753delC	p.G252fs	Frameshift insertion or deletion	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1560	Directly submitted	c.753delC	p.G252fs	Frameshift insertion or deletion	TRD	Rett syndrome - classical	Mutation associated with disease	F
1668	Friez, ...	c.753delC	p.G252fs	Frameshift insertion or deletion	TRD	Not known	Mutation associated with disease	F
1815	Friez, ...	c.753delC	p.G252fs	Frameshift insertion or deletion	TRD	Not known	Mutation associated with disease	F
2094	Cardiff, ...	c.753delC	p.G252fs	Frameshift insertion or deletion	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2598	Zahorakova, ... Pubmed: 17387578	c.753dupC	p.G252fs	frameshift insertion or deletion	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2994	Chae, ... Pubmed: 15526954	c.753C>T	p.P251P	silent	TRD	Rett syndrome - classical	Silent polymorphism	F
4753	Hadzsiev, ... Pubmed: 21160487	c.753C>T	p.P251P	silent	TRD	Rett syndrome - not certain	Silent polymorphism	F
4754	Hadzsiev, ... Pubmed: 21160487	c.753C>T	p.P251P	silent	TRD	Rett syndrome - not certain	Silent polymorphism	F
6667	Directly submitted	c.753_754dup	p.G252fs	frameshift insertion or deletion	TRD	Rett syndrome - classical	Mutation associated with disease	F
1951	Schanen, ... Pubmed: 15057977	c.755delG	p.G252fs	Frameshift insertion or deletion	TRD	Rett syndrome - atypical	Mutation associated with disease	F
4103	Milunsky, ... Pubmed: 11960578	c.755dupG	p.R253fs	frameshift insertion or deletion	TRD	Rett syndrome - classical	Mutation associated with disease	F
4104	Milunsky, ... Pubmed: 11960578	c.755dupG	p.R253fs	frameshift insertion or deletion	TRD	Rett syndrome - male variant	Mutation associated with disease	M
188	Obata, ... Pubmed: 10991688	c.756_759delCAGG	p.R253fs	Frameshift insertion or deletion	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2888	Djarmati, ... Pubmed: 17986102	c.756_763dup	p.R255fs	frameshift insertion or deletion	TRD	Rett syndrome - classical	Mutation associated with disease	F
3757	Fukuda, ... Pubmed: 15737703	c.756_759delCAGG	p.R253fs	frameshift insertion or deletion	TRD	Rett syndrome - classical	Mutation associated with disease	F
1790	Friez, ...	c.760A>T	p.K254X	Nonsense	TRD	Not known	Mutation associated with disease	F
27	Bunyan, ...	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
86	Hoffbuhr, ... Pubmed: 11402105	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
87	Hoffbuhr, ... Pubmed: 11402105	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
88	Hoffbuhr, ... Pubmed: 11402105	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
89	Hoffbuhr, ... Pubmed: 11402105	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
90	Hoffbuhr, ... Pubmed: 11402105	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
91	Hoffbuhr, ... Pubmed: 11402105	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
92	Hoffbuhr, ... Pubmed: 11402105	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
113	Huppke, ... Pubmed: 10814718	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
114	Huppke, ... Pubmed: 10814718	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
115	Huppke, ... Pubmed: 10814718	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
198	Hampson, ... Pubmed: 10991689	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
199	Hampson, ... Pubmed: 10991689	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
200	Hampson, ... Pubmed: 10991689	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
214	Orrico, ... Pubmed: 11007980	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
215	Orrico, ... Pubmed: 11007980	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
216	Orrico, ... Pubmed: 11007980	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Atypical	Mutation associated with disease	F
240	Bourdon, ... Pubmed: 11214906	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
241	Bourdon, ... Pubmed: 11214906	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
242	Bourdon, ... Pubmed: 11214906	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
243	Bourdon, ... Pubmed: 11214906	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
244	Bourdon, ... Pubmed: 11214906	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
245	Bourdon, ... Pubmed: 11214906	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
277	Trappe, ... Pubmed: 11309679	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
278	Trappe, ... Pubmed: 11309679	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
303	Auranen, ... Pubmed: 11245712	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
304	Auranen, ... Pubmed: 11245712	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
305	Auranen, ... Pubmed: 11245712	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
306	Auranen, ... Pubmed: 11245712	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
307	Auranen, ... Pubmed: 11245712	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
336	De Bona, ... Pubmed: 10854091	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
337	De Bona, ... Pubmed: 10854091	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
356	Directly submitted	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
357	Directly submitted	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
421	Directly submitted	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Atypical	Mutation associated with disease	F
427	Ellaway, ... Pubmed: 11446411	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Atypical	Mutation associated with disease	F
462	Directly submitted	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Atypical	Mutation associated with disease	F
477	Directly submitted	c.763C>T	p.R255X	Nonsense	TRD	Not known	Mutation associated with disease	F
480	Directly submitted	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Atypical	Mutation associated with disease	F
481	Directly submitted	c.763C>T	p.R255X	Nonsense	TRD	Not known	Mutation associated with disease	F
948	Bienvenu, ... Pubmed: 10814719	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
935	Bienvenu, ... Pubmed: 10814719	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
898	Directly submitted	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	U
899	Directly submitted	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome	Mutation associated with disease	U
896	Directly submitted	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	U
897	Directly submitted	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	U
895	Directly submitted	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	U
871	Xiang, ... Pubmed: 10745042	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
870	Xiang, ... Pubmed: 10745042	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
869	Xiang, ... Pubmed: 10745042	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
842	Amir, ... Pubmed: 10508514	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	U
1080	Buyse, ... Pubmed: 11055898	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1081	Buyse, ... Pubmed: 11055898	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1082	Buyse, ... Pubmed: 11055898	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1083	Buyse, ... Pubmed: 11055898	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1084	Buyse, ... Pubmed: 11055898	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1085	Buyse, ... Pubmed: 11055898	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1086	Buyse, ... Pubmed: 11055898	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1087	Buyse, ... Pubmed: 11055898	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1088	Buyse, ... Pubmed: 11055898	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1089	Buyse, ... Pubmed: 11055898	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1090	Buyse, ... Pubmed: 11055898	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1091	Buyse, ... Pubmed: 11055898	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1146	Imessaoudene, ... Pubmed: 11238684	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1147	Imessaoudene, ... Pubmed: 11238684	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1169	Girard, ... Pubmed: 11313764	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1198	Armstrong, ... Pubmed: 12065946	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1207	Chae, ... Pubmed: 11913567	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1213	Chae, ... Pubmed: 11913567	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1220	Chae, ... Pubmed: 11913567	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1322	Laccone, ... Pubmed: 11241840	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1323	Laccone, ... Pubmed: 11241840	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1324	Laccone, ... Pubmed: 11241840	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1325	Laccone, ... Pubmed: 11241840	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1326	Laccone, ... Pubmed: 11241840	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1327	Laccone, ... Pubmed: 11241840	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1328	Laccone, ... Pubmed: 11241840	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1329	Laccone, ... Pubmed: 11241840	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1330	Laccone, ... Pubmed: 11241840	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1331	Laccone, ... Pubmed: 11241840	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1408	Nicolao, ... Pubmed: 11462237	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1409	Nicolao, ... Pubmed: 11462237	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1450	Vacca, ... Pubmed: 11269512	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1451	Vacca, ... Pubmed: 11269512	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1469	Vacca, ... Pubmed: 11269512	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1470	Vacca, ... Pubmed: 11269512	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1471	Vacca, ... Pubmed: 11269512	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1472	Vacca, ... Pubmed: 11269512	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1473	Vacca, ... Pubmed: 11269512	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1494	Wan, ... Pubmed: 10577905	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1510	Yamada, ... Pubmed: 11524741	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	U
1511	Yamada, ... Pubmed: 11524741	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - atypical	Mutation associated with disease	U
1512	Yamada, ... Pubmed: 11524741	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - atypical	Mutation associated with disease	U
1513	Yamada, ... Pubmed: 11524741	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - atypical	Mutation associated with disease	U
1514	Yamada, ... Pubmed: 11524741	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - atypical	Mutation associated with disease	U
1591	Bunyan, ...	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1602	Bunyan, ...	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1605	Bunyan, ...	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1608	Bunyan, ...	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1623	Bunyan, ...	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1730	Friez, ...	c.763C>T	p.R255X	Nonsense	TRD	Not known	Mutation associated with disease	F
1733	Friez, ...	c.763C>T	p.R255X	Nonsense	TRD	Not known	Mutation associated with disease	F
1739	Friez, ...	c.763C>T	p.R255X	Nonsense	TRD	Not known	Mutation associated with disease	F
1747	Friez, ...	c.763C>T	p.R255X	Nonsense	TRD	Not known	Mutation associated with disease	F
1750	Friez, ...	c.763C>T	p.R255X	Nonsense	TRD	Not known	Mutation associated with disease	F
1753	Friez, ...	c.763C>T	p.R255X	Nonsense	TRD	Not known	Mutation associated with disease	F
1759	Friez, ...	c.763C>T	p.R255X	Nonsense	TRD	Not known	Mutation associated with disease	F
1769	Friez, ...	c.763C>T	p.R255X	Nonsense	TRD	Not known	Mutation associated with disease	F
1786	Friez, ...	c.763C>T	p.R255X	Nonsense	TRD	Not known	Mutation associated with disease	F
1797	Friez, ...	c.763C>T	p.R255X	Nonsense	TRD	Not known	Mutation associated with disease	F
1803	Friez, ...	c.763C>T	p.R255X	Nonsense	TRD	Not known	Mutation associated with disease	F
1804	Friez, ...	c.763C>T	p.R255X	Nonsense	TRD	Not known	Mutation associated with disease	F
1854	Bunyan, ...	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1892	Directly submitted	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1893	Directly submitted	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1920	Schanen, ... Pubmed: 15057977	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - atypical	Mutation associated with disease	F
1921	Schanen, ... Pubmed: 15057977	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - atypical	Mutation associated with disease	F
1922	Schanen, ... Pubmed: 15057977	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
1936	Schanen, ... Pubmed: 15057977	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - atypical	Mutation associated with disease	F
1938	Schanen, ... Pubmed: 15057977	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
1944	Schanen, ... Pubmed: 15057977	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
1962	Schanen, ... Pubmed: 15057977	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
1963	Schanen, ... Pubmed: 15057977	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2018	Directly submitted	c.763C>T	p.R255X	Nonsense	TRD	Not known	Mutation associated with disease	F
2020	Directly submitted	c.763C>T	p.R255X	Nonsense	TRD	Not known	Mutation associated with disease	F
2031	Directly submitted	c.763C>T	p.R255X	Nonsense	TRD	Not known	Mutation associated with disease	F
2034	Directly submitted	c.763C>T	p.R255X	Nonsense	TRD	Not known	Mutation associated with disease	F
2042	Directly submitted	c.763C>T	p.R255X	Nonsense	TRD	Not known	Mutation associated with disease	F
2263	Cardiff, ...	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
2264	Cardiff, ...	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2265	Cardiff, ...	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
2266	Cardiff, ...	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
2267	Cardiff, ...	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2268	Cardiff, ...	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2269	Cardiff, ...	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2270	Cardiff, ...	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2271	Cardiff, ...	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2272	Cardiff, ...	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2273	Cardiff, ...	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
2274	Cardiff, ...	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2275	Cardiff, ...	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2276	Cardiff, ...	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
2277	Cardiff, ...	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
2278	Cardiff, ...	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2279	Cardiff, ...	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2280	Cardiff, ...	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2281	Cardiff, ...	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2282	Cardiff, ...	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2283	Cardiff, ...	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2284	Cardiff, ...	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Atypical	Mutation associated with disease	F
2285	Cardiff, ...	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2286	Cardiff, ...	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2398	Monros, ... Pubmed: 11738885	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2402	Monros, ... Pubmed: 11738885	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2412	Monros, ... Pubmed: 11738885	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2418	Monros, ... Pubmed: 11738885	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Congenital onset	Mutation associated with disease	F
2426	Monros, ... Pubmed: 11738885	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Congenital onset	Mutation associated with disease	F
2431	Monros, ... Pubmed: 11738885	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2433	Monros, ... Pubmed: 11738885	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2434	Monros, ... Pubmed: 11738885	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2446	Monros, ... Pubmed: 11738885	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2459	Directly submitted	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2465	Directly submitted	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2473	Directly submitted	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2477	Directly submitted	c.763C>T	p.R255X	Nonsense	TRD	Rett syndrome - Forme fruste	Mutation associated with disease	F
2599	Zahorakova, ... Pubmed: 17387578	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2600	Zahorakova, ... Pubmed: 17387578	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2601	Zahorakova, ... Pubmed: 17387578	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2602	Zahorakova, ... Pubmed: 17387578	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2603	Zahorakova, ... Pubmed: 17387578	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2769	Donzel-Javouhey, ... Pubmed: 16763963	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
2821	Kim, ... Pubmed: 16672765	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2822	Kim, ... Pubmed: 16672765	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2860	Conforti, ... Pubmed: 12567420	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2879	Smeets, ... Pubmed: 12966523	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2897	Djarmati, ... Pubmed: 17986102	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2898	Djarmati, ... Pubmed: 17986102	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2899	Djarmati, ... Pubmed: 17986102	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2940	Kammoun, ... Pubmed: 15173251	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2965	Kammoun, ... Pubmed: 15173251	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - atypical	Mutation associated with disease	F
2966	Kammoun, ... Pubmed: 15173251	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - atypical	Mutation associated with disease	F
2967	Kammoun, ... Pubmed: 15173251	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - atypical	Mutation associated with disease	F
2981	Chae, ... Pubmed: 15526954	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2982	Chae, ... Pubmed: 15526954	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3005	Pan, ... Pubmed: 12111643	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3041	Yaron Y, ... Pubmed: 12325033	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3042	Yaron Y, ... Pubmed: 12325033	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3061	Giunti L, ... Pubmed: 11738883	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3201	Philippe C, ... Pubmed: 16473305	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3202	Philippe C, ... Pubmed: 16473305	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3203	Philippe C, ... Pubmed: 16473305	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3204	Philippe C, ... Pubmed: 16473305	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3205	Philippe C, ... Pubmed: 16473305	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3206	Philippe C, ... Pubmed: 16473305	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3207	Philippe C, ... Pubmed: 16473305	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3208	Philippe C, ... Pubmed: 16473305	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3209	Philippe C, ... Pubmed: 16473305	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3210	Philippe C, ... Pubmed: 16473305	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3211	Philippe C, ... Pubmed: 16473305	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3212	Philippe C, ... Pubmed: 16473305	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3213	Philippe C, ... Pubmed: 16473305	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3214	Philippe C, ... Pubmed: 16473305	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3215	Philippe C, ... Pubmed: 16473305	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3216	Philippe C, ... Pubmed: 16473305	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3370	Nielsen JB, ... Pubmed: 11313756	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3371	Nielsen JB, ... Pubmed: 11313756	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3372	Nielsen JB, ... Pubmed: 11313756	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3373	Nielsen JB, ... Pubmed: 11313756	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3479	Bienvenu T, ... Pubmed: 12180070	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3480	Bienvenu T, ... Pubmed: 12180070	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3481	Bienvenu T, ... Pubmed: 12180070	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3482	Bienvenu T, ... Pubmed: 12180070	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3483	Bienvenu T, ... Pubmed: 12180070	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3484	Bienvenu T, ... Pubmed: 12180070	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3485	Bienvenu T, ... Pubmed: 12180070	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3486	Bienvenu T, ... Pubmed: 12180070	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3487	Bienvenu T, ... Pubmed: 12180070	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3488	Bienvenu T, ... Pubmed: 12180070	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3489	Bienvenu T, ... Pubmed: 12180070	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3490	Bienvenu T, ... Pubmed: 12180070	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3491	Bienvenu T, ... Pubmed: 12180070	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3579	Li, ... Pubmed: 17089071	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3580	Li, ... Pubmed: 17089071	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3581	Li, ... Pubmed: 17089071	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3582	Li, ... Pubmed: 17089071	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3583	Li, ... Pubmed: 17089071	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3706	Fukuda, ... Pubmed: 15737703	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3707	Fukuda, ... Pubmed: 15737703	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3708	Fukuda, ... Pubmed: 15737703	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3709	Fukuda, ... Pubmed: 15737703	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3710	Fukuda, ... Pubmed: 15737703	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3711	Fukuda, ... Pubmed: 15737703	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3712	Fukuda, ... Pubmed: 15737703	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3713	Fukuda, ... Pubmed: 15737703	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3714	Fukuda, ... Pubmed: 15737703	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3715	Fukuda, ... Pubmed: 15737703	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3716	Fukuda, ... Pubmed: 15737703	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3805	Wong, ... Pubmed: 18174559	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3813	Herman, ... Pubmed: 17505203	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3814	Herman, ... Pubmed: 17505203	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - atypical	Mutation associated with disease	F
4145	Milunsky, ... Pubmed: 11960578	c.763C>T	p.R255X	nonsense	TRD	Not known	Mutation associated with disease	F
4146	Milunsky, ... Pubmed: 11960578	c.763C>T	p.R255X	nonsense	TRD	Not known	Mutation associated with disease	F
4147	Milunsky, ... Pubmed: 11960578	c.763C>T	p.R255X	nonsense	TRD	Not known	Mutation associated with disease	F
4148	Milunsky, ... Pubmed: 11960578	c.763C>T	p.R255X	nonsense	TRD	Not known	Mutation associated with disease	F
4261	de Lima, ... Pubmed: 19722030	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
4262	de Lima, ... Pubmed: 19722030	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
4263	de Lima, ... Pubmed: 19722030	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
4264	de Lima, ... Pubmed: 19722030	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - Atypical	Mutation associated with disease	F
4265	de Lima, ... Pubmed: 19722030	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - Atypical	Mutation associated with disease	F
4307	Raizis, ... Pubmed: 19652677	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
4377	Monnerat, ... Pubmed: 20031356	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
4378	Monnerat, ... Pubmed: 20031356	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
4379	Monnerat, ... Pubmed: 20031356	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - Atypical	Mutation associated with disease	F
4380	Monnerat, ... Pubmed: 20031356	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - Atypical	Mutation associated with disease	F
4381	Monnerat, ... Pubmed: 20031356	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
4481	Das, ...	c.763_1383del621ins15	p.R255_I461delins5	in-frame combined insertion and deletion	TRD, TRD-NLS, C-term	Not known	Mutation associated with disease	F
4482	Das, ...	c.763C>T	p.R255X	nonsense	TRD	Not known	Mutation associated with disease	F
4483	Das, ...	c.763C>T	p.R255X	nonsense	TRD	Not Rett synd. - unaffected family member	Mutation associated with disease	F
4484	Das, ...	c.763C>T	p.R255X	nonsense	TRD	Not known	Mutation associated with disease	F
4485	Das, ...	c.763C>T	p.R255X	nonsense	TRD	Not known	Mutation associated with disease	F
4486	Das, ...	c.763C>T	p.R255X	nonsense	TRD	Not known	Mutation associated with disease	F
4487	Das, ...	c.763C>T	p.R255X	nonsense	TRD	Not known	Mutation associated with disease	F
4488	Das, ...	c.763C>T	p.R255X	nonsense	TRD	Not known	Mutation associated with disease	F
4489	Das, ...	c.763C>T	p.R255X	nonsense	TRD	Not known	Mutation associated with disease	F
4490	Das, ...	c.763C>T	p.R255X	nonsense	TRD	Not known	Mutation associated with disease	F
4717	Hadzsiev, ... Pubmed: 21160487	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
4718	Hadzsiev, ... Pubmed: 21160487	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
4719	Hadzsiev, ... Pubmed: 21160487	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
4720	Hadzsiev, ... Pubmed: 21160487	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
4813	Corbani, ... Pubmed: 21954873	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
4845	Psoni, ... Pubmed: 21982064	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
4846	Psoni, ... Pubmed: 21982064	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - atypical	Mutation associated with disease	F
4875	Zvereff, ... Pubmed: 22277191	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
4876	Zvereff, ... Pubmed: 22277191	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
4912	Kim, ... Pubmed: 22476991	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
4925	Todorov, ... Pubmed: 22525432	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
4926	Todorov, ... Pubmed: 22525432	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
5049	Das, ... Pubmed: 23262346	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
5050	Das, ... Pubmed: 23262346	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
5126	Maortua, ... Pubmed: 23810759	c.763C>T	p.R255X	nonsense	TRD	Not Rett synd. - intellectual disability	Mutation associated with disease	F
6743	Daniela�Zahorakova, ... Pubmed: 26984561	c.763C>T	p.R255*	nonsense	NLS	Rett syndrome - classical	Mutation associated with disease	F
6742	Daniela�Zahorakova, ... Pubmed: 26984561	c.763C>T	p.R255*	nonsense	NLS	Rett syndrome - classical	Mutation associated with disease	F
6741	Daniela�Zahorakova, ... Pubmed: 26984561	c.763C>T	p.R255*	nonsense	NLS	Rett syndrome - classical	Mutation associated with disease	F
6740	Daniela�Zahorakova, ... Pubmed: 26984561	c.763C>T	p.R255*	nonsense	NLS	Rett syndrome - classical	Mutation associated with disease	F
6460	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6459	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6458	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6457	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6456	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6455	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6454	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6453	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6452	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - congenital	Mutation associated with disease	F
6451	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6408	Amir et al.	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6407	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6405	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6406	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6404	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6403	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6402	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6401	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6400	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6399	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6398	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6397	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6396	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6394	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6395	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6393	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6392	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6391	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6390	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6388	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6389	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6387	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6386	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6385	Directly submitted	c.763C>T	p.R255X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6897	Directly submitted	c.763C>T	p.Arg255*	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
7018	Huong Le Thi Thanh , ... Pubmed: 30081849	c.763C > T		nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
7019	Huong Le Thi Thanh , ... Pubmed: 30081849	c.763C > T		nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
7023	Huong Le Thi Thanh , ... Pubmed: 30081849	c.763C > T		nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
7037	Tsutomu Shioda , ... Pubmed: 29631775	c.763C>T		nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
1671	Friez, ...	c.764_765ins8	p.R255fs	Frameshift insertion or deletion	TRD	Not known	Mutation associated with disease	F
3380	Nielsen JB, ... Pubmed: 11313756	c.766_779dup14	p.D260fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
5127	Maortua, ... Pubmed: 23810759	c.766A>T	p.K256X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
5062	Das, ... Pubmed: 23262346	c.767_1175del409	p.K256SfsX17	frameshift insertion or deletion	TRD-NLS, C-term	Rett syndrome - classical	Mutation associated with disease	F
1374	Laccone, ... Pubmed: 11241840	c.777C>T	p.A259A	Silent	TRD-NLS	Rett syndrome - Not certain	Silent polymorphism	U
1375	Laccone, ... Pubmed: 11241840	c.777C>T	p.A259A	Silent	TRD-NLS	Rett syndrome - Not certain	Silent polymorphism	U
1431	Nicolao, ... Pubmed: 11462237	c.777C>T	p.A259A	Silent	TRD-NLS	Rett syndrome - Classical	Silent polymorphism	F
1846	Bunyan, ...	c.777C>T	p.A259A	Silent	TRD-NLS	Not Rett synd. - Unaffected family member	Silent polymorphism	F
1894	Directly submitted	c.777C>T	p.A259A	Silent	TRD-NLS	Rett syndrome - Not certain	Silent polymorphism	F
4387	Monnerat, ... Pubmed: 20031356	c.777C>T	p.A259A	silent	TRD-NLS	Not Rett synd. - normal control	Silent polymorphism	F
3800	Khajuria R, ...	c.784C>T	p.Q262X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
4098	Milunsky, ... Pubmed: 11960578	c.784C>T	p.Q262X	nonsense	TRD-NLS	Not known	Mutation associated with disease	F
140	Amano, ... Pubmed: 10944854	c.785_818del34	p.Q262fs	Frameshift insertion or deletion	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	U
1895	Directly submitted	c.792_793delTC	p.P265fs	Frameshift insertion or deletion	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
4085	Khajuria, ...	c.795C>G	p.P265P	silent	TRD-NLS	Rett syndrome - atypical	Silent polymorphism	F
2889	Djarmati, ... Pubmed: 17986102	c.799A>T	p.K267X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
7038	Tsutomu Shioda , ... Pubmed: 29631775	c.799A>T		nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
21	Bunyan, ...	c.806delG	p.G269fs	Frameshift insertion or deletion	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
137	Amano, ... Pubmed: 10944854	c.806delG	p.G269fs	Frameshift insertion or deletion	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	U
308	Auranen, ... Pubmed: 11245712	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
309	Auranen, ... Pubmed: 11245712	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
342	De Bona, ... Pubmed: 10854091	c.806delG	p.G269fs	Frameshift insertion or deletion	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
472	Directly submitted	c.806delG	p.G269fs	Frameshift insertion or deletion	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
1113	Buyse, ... Pubmed: 11055898	c.806delG	p.G269fs	Frameshift insertion or deletion	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1114	Buyse, ... Pubmed: 11055898	c.806delG	p.G269fs	Frameshift insertion or deletion	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1148	Imessaoudene, ... Pubmed: 11238684	c.806delG	p.G269fs	Frameshift insertion or deletion	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1426	Nicolao, ... Pubmed: 11462237	c.806delG	p.G269fs	Frameshift insertion or deletion	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
1452	Vacca, ... Pubmed: 11269512	c.806delG	p.G269fs	Frameshift insertion or deletion	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
1495	Wan, ... Pubmed: 10577905	c.806delG	p.G269fs	Frameshift insertion or deletion	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
1496	Wan, ... Pubmed: 10577905	c.806delG	p.G269fs	Frameshift insertion or deletion	TRD-NLS	Not Rett synd. - Progressive encephalopathy of neonatal onset	Mutation associated with disease	M
1497	Wan, ... Pubmed: 10577905	c.806delG	p.G269fs	Frameshift insertion or deletion	TRD-NLS	Not Rett synd. - X-linked mental retardation	Mutation associated with disease	F
1498	Wan, ... Pubmed: 10577905	c.806delG	p.G269fs	Frameshift insertion or deletion	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
1618	Bunyan, ...	c.806delG	p.G269fs	Frameshift insertion or deletion	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1680	Friez, ...	c.806delG	p.G269fs	Frameshift insertion or deletion	TRD-NLS	Not known	Mutation associated with disease	F
1702	Friez, ...	c.806delG	p.G269fs	Frameshift insertion or deletion	TRD-NLS	Not known	Mutation associated with disease	F
1744	Friez, ...	c.806delG	p.G269fs	Frameshift insertion or deletion	TRD-NLS	Not known	Mutation associated with disease	F
1812	Friez, ...	c.806delG	p.G269fs	Frameshift insertion or deletion	TRD-NLS	Not known	Mutation associated with disease	F
1843	Bunyan, ...	c.806delG	p.G269fs	Frameshift insertion or deletion	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1896	Directly submitted	c.806delG	p.G269fs	Frameshift insertion or deletion	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1897	Directly submitted	c.806delG	p.G269fs	Frameshift insertion or deletion	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1926	Schanen, ... Pubmed: 15057977	c.806delG	p.G269fs	Frameshift insertion or deletion	TRD-NLS	Rett syndrome - atypical	Mutation associated with disease	F
1965	Schanen, ... Pubmed: 15057977	c.806delG	p.G269fs	Frameshift insertion or deletion	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
1981	V. Leuzzi, ... Pubmed: 15557528	c.806delG	p.G269fs	Frameshift insertion or deletion	TRD-NLS	Not Rett synd. - Progressive encephalopathy of neonatal onset	Mutation associated with disease	M
2010	Directly submitted	c.806delG	p.G269fs	Frameshift insertion or deletion	TRD-NLS	Not known	Mutation associated with disease	F
2060	Directly submitted	c.806delG	p.G269fs	Frameshift insertion or deletion	TRD-NLS	Not known	Mutation associated with disease	M
2095	Cardiff, ...	c.806delG	p.G269fs	Frameshift insertion or deletion	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2096	Cardiff, ...	c.806delG	p.G269fs	Frameshift insertion or deletion	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
2097	Cardiff, ...	c.806delG	p.G269fs	Frameshift insertion or deletion	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2604	Zahorakova, ... Pubmed: 17387578	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2605	Zahorakova, ... Pubmed: 17387578	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2794	Kankirawatana, ... Pubmed: 16832102	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Not Rett synd. - progressive encephalopathy of neonatal onset	Mutation associated with disease	M
3007	Pan, ... Pubmed: 12111643	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
3268	Philippe C, ... Pubmed: 16473305	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3269	Philippe C, ... Pubmed: 16473305	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3270	Philippe C, ... Pubmed: 16473305	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3271	Philippe C, ... Pubmed: 16473305	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3272	Philippe C, ... Pubmed: 16473305	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3273	Philippe C, ... Pubmed: 16473305	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3274	Philippe C, ... Pubmed: 16473305	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3598	Li, ... Pubmed: 17089071	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3599	Li, ... Pubmed: 17089071	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3600	Li, ... Pubmed: 17089071	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3601	Li, ... Pubmed: 17089071	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3602	Li, ... Pubmed: 17089071	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3603	Li, ... Pubmed: 17089071	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3604	Li, ... Pubmed: 17089071	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3765	Fukuda, ... Pubmed: 15737703	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
4071	Lee SSJ, ... Pubmed: 11738860	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
4707	Hadzsiev, ... Pubmed: 21160487	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
4850	Psoni, ... Pubmed: 21982064	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
4915	Kim, ... Pubmed: 22476991	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
5064	Das, ... Pubmed: 23262346	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
5065	Das, ... Pubmed: 23262346	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
6744	Daniela�Zahorakova, ... Pubmed: 26984561	c.806delG	p.G269Afs*20	frameshift insertion or deletion	NLS	Rett syndrome - preserved speech	Mutation associated with disease	F
6610	Directly submitted	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
6609	Directly submitted	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
6608	Directly submitted	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
6607	Directly submitted	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Not Rett synd.	Mutation associated with disease	M
6606	Directly submitted	c.806delG	p.G269fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
6578	Directly submitted	c.806delG	p.G269fs	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
7028	Huong Le Thi Thanh , ... Pubmed: 30081849	c.806del G		frameshift insertion or deletion	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
1722	Friez, ...	c.807_*125del780	p.R270_S486delinsQ	In-frame insertion or deletion	TRD-NLS	Not known	Mutation associated with disease	F
2	Bunyan, ...	c.808delC	p.R270fs	Frameshift insertion or deletion	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
8	Bunyan, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
34	Hoffbuhr, ... Pubmed: 11402105	c.808delC	p.R270fs	Frameshift insertion or deletion	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
93	Hoffbuhr, ... Pubmed: 11402105	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
94	Hoffbuhr, ... Pubmed: 11402105	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
95	Hoffbuhr, ... Pubmed: 11402105	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
96	Hoffbuhr, ... Pubmed: 11402105	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
97	Hoffbuhr, ... Pubmed: 11402105	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
98	Hoffbuhr, ... Pubmed: 11402105	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
99	Hoffbuhr, ... Pubmed: 11402105	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
100	Hoffbuhr, ... Pubmed: 11402105	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
116	Huppke, ... Pubmed: 10814718	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
117	Huppke, ... Pubmed: 10814718	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
118	Huppke, ... Pubmed: 10814718	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
130	Amano, ... Pubmed: 10944854	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	U
178	Obata, ... Pubmed: 10991688	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
179	Obata, ... Pubmed: 10991688	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
180	Obata, ... Pubmed: 10991688	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
189	Obata, ... Pubmed: 10991688	c.808delC	p.R270fs	Frameshift insertion or deletion	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
201	Hampson, ... Pubmed: 10991689	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
202	Hampson, ... Pubmed: 10991689	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
246	Bourdon, ... Pubmed: 11214906	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	U
247	Bourdon, ... Pubmed: 11214906	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	U
248	Bourdon, ... Pubmed: 11214906	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	U
279	Trappe, ... Pubmed: 11309679	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
280	Trappe, ... Pubmed: 11309679	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
281	Trappe, ... Pubmed: 11309679	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
310	Auranen, ... Pubmed: 11245712	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
311	Auranen, ... Pubmed: 11245712	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
312	Auranen, ... Pubmed: 11245712	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
313	Auranen, ... Pubmed: 11245712	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
338	De Bona, ... Pubmed: 10854091	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
339	De Bona, ... Pubmed: 10854091	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
340	De Bona, ... Pubmed: 10854091	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
341	De Bona, ... Pubmed: 10854091	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
358	Directly submitted	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
371	Directly submitted	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
382	Directly submitted	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Atypical	Mutation associated with disease	F
389	Directly submitted	c.808C>T	p.R270X	Nonsense	TRD-NLS	Not known	Mutation associated with disease	F
390	Directly submitted	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
392	Directly submitted	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
401	Directly submitted	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Atypical	Mutation associated with disease	F
417	Directly submitted	c.808C>T	p.R270X	Nonsense	TRD-NLS	Not known	Mutation associated with disease	F
455	Directly submitted	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Atypical	Mutation associated with disease	F
460	Directly submitted	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Atypical	Mutation associated with disease	F
464	Directly submitted	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Atypical	Mutation associated with disease	F
943	Bienvenu, ... Pubmed: 10814719	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
941	Bienvenu, ... Pubmed: 10814719	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
940	Bienvenu, ... Pubmed: 10814719	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
922	Bienvenu, ... Pubmed: 10814719	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
920	Bienvenu, ... Pubmed: 10814719	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
903	Directly submitted	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	U
901	Directly submitted	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	U
902	Directly submitted	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	U
1092	Buyse, ... Pubmed: 11055898	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1093	Buyse, ... Pubmed: 11055898	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1094	Buyse, ... Pubmed: 11055898	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1095	Buyse, ... Pubmed: 11055898	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1096	Buyse, ... Pubmed: 11055898	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1097	Buyse, ... Pubmed: 11055898	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1098	Buyse, ... Pubmed: 11055898	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1099	Buyse, ... Pubmed: 11055898	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1115	Buyse, ... Pubmed: 11055898	c.808delC	p.R270fs	Frameshift insertion or deletion	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1149	Imessaoudene, ... Pubmed: 11238684	c.808C>T	p.R270X	Nonsense	TRD-NLS	Not Rett synd. - Progressive encephalopathy of neonatal onset	Mutation associated with disease	F
1156	Girard, ... Pubmed: 11313764	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1157	Girard, ... Pubmed: 11313764	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1158	Girard, ... Pubmed: 11313764	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1159	Girard, ... Pubmed: 11313764	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1216	Chae, ... Pubmed: 11913567	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
1253	Huppke, ... Pubmed: 12075485	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1332	Laccone, ... Pubmed: 11241840	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	U
1333	Laccone, ... Pubmed: 11241840	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	U
1334	Laccone, ... Pubmed: 11241840	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	U
1335	Laccone, ... Pubmed: 11241840	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	U
1336	Laccone, ... Pubmed: 11241840	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	U
1337	Laccone, ... Pubmed: 11241840	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	U
1338	Laccone, ... Pubmed: 11241840	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	U
1339	Laccone, ... Pubmed: 11241840	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	U
1340	Laccone, ... Pubmed: 11241840	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	U
1410	Nicolao, ... Pubmed: 11462237	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
1411	Nicolao, ... Pubmed: 11462237	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
1412	Nicolao, ... Pubmed: 11462237	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
1413	Nicolao, ... Pubmed: 11462237	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
1414	Nicolao, ... Pubmed: 11462237	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
1415	Nicolao, ... Pubmed: 11462237	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
1416	Nicolao, ... Pubmed: 11462237	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
1417	Nicolao, ... Pubmed: 11462237	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
1435	Topcu, ... Pubmed: 11896459	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Male variant	Mutation associated with disease	M
1474	Vacca, ... Pubmed: 11269512	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
1475	Vacca, ... Pubmed: 11269512	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
1476	Vacca, ... Pubmed: 11269512	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
1515	Yamada, ... Pubmed: 11524741	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	U
1516	Yamada, ... Pubmed: 11524741	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	U
1517	Yamada, ... Pubmed: 11524741	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	U
1518	Yamada, ... Pubmed: 11524741	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	U
1595	Bunyan, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1619	Bunyan, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1626	Bunyan, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1643	Bunyan, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1681	Friez, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Not known	Mutation associated with disease	F
1684	Friez, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Not known	Mutation associated with disease	F
1688	Friez, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Not known	Mutation associated with disease	F
1703	Friez, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Not known	Mutation associated with disease	F
1709	Friez, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Not known	Mutation associated with disease	F
1738	Friez, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Not known	Mutation associated with disease	F
1772	Friez, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Not known	Mutation associated with disease	F
1775	Friez, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Not known	Mutation associated with disease	F
1781	Friez, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Not known	Mutation associated with disease	F
1782	Friez, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Not known	Mutation associated with disease	F
1783	Friez, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Not known	Mutation associated with disease	F
1828	Bunyan, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1831	Bunyan, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1849	Bunyan, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1860	Bunyan, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1868	Bunyan, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1870	Bunyan, ...	c.808delC	p.R270fs	Frameshift insertion or deletion	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1898	Directly submitted	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
1957	Schanen, ... Pubmed: 15057977	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
1968	B. Zoll, ... Pubmed: 15287421	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
2012	Directly submitted	c.808C>T	p.R270X	Nonsense	TRD-NLS	Not known	Mutation associated with disease	F
2287	Cardiff, ...	c.808delC	p.R270fs	Frameshift insertion or deletion	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2288	Cardiff, ...	c.808delC	p.R270fs	Frameshift insertion or deletion	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2289	Cardiff, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2290	Cardiff, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2291	Cardiff, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2292	Cardiff, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2293	Cardiff, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
2294	Cardiff, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Atypical	Mutation associated with disease	F
2295	Cardiff, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2296	Cardiff, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2297	Cardiff, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Not certain	Mutation associated with disease	F
2298	Cardiff, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2299	Cardiff, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Atypical	Mutation associated with disease	F
2300	Cardiff, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2301	Cardiff, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2302	Cardiff, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2303	Cardiff, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2304	Cardiff, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2305	Cardiff, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2306	Cardiff, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Atypical	Mutation associated with disease	F
2307	Cardiff, ...	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2410	Directly submitted	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2414	Monros, ... Pubmed: 11738885	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2435	Monros, ... Pubmed: 11738885	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2439	Monros, ... Pubmed: 11738885	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2443	Monros, ... Pubmed: 11738885	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Congenital onset	Mutation associated with disease	F
2451	Directly submitted	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2452	Directly submitted	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2456	Directly submitted	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2471	Directly submitted	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2479	Directly submitted	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2481	Directly submitted	c.808C>T	p.R270X	Nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2543	Matijevic, ... Pubmed: 17341617	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
2606	Zahorakova, ... Pubmed: 17387578	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2607	Zahorakova, ... Pubmed: 17387578	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2608	Zahorakova, ... Pubmed: 17387578	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
2793	Kankirawatana, ... Pubmed: 16832102	c.808delC	p.R270fs	frameshift insertion or deletion	TRD-NLS	Not Rett synd. - progressive encephalopathy of neonatal onset	Mutation associated with disease	M
2797	Evans, ... Pubmed: 16965328	c.808delC	p.R270fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
2798	Evans, ... Pubmed: 16965328	c.808delC	p.R270fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
2824	Kim, ... Pubmed: 16672765	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
2826	Kim, ... Pubmed: 16672765	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
2827	Kim, ... Pubmed: 16672765	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
2861	Conforti, ... Pubmed: 12567420	c.808delC	p.R270fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
2900	Djarmati, ... Pubmed: 17986102	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
2941	Kammoun, ... Pubmed: 15173251	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
2942	Kammoun, ... Pubmed: 15173251	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
2943	Kammoun, ... Pubmed: 15173251	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
2968	Kammoun, ... Pubmed: 15173251	c.808delC	p.R270fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - atypical	Mutation associated with disease	F
2969	Kammoun, ... Pubmed: 15173251	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - atypical	Mutation associated with disease	F
2983	Chae, ... Pubmed: 15526954	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
3043	Yaron Y, ... Pubmed: 12325033	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
3055	Giunti L, ... Pubmed: 11738883	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3056	Giunti L, ... Pubmed: 11738883	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3057	Giunti L, ... Pubmed: 11738883	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3058	Giunti L, ... Pubmed: 11738883	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3217	Philippe C, ... Pubmed: 16473305	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3218	Philippe C, ... Pubmed: 16473305	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3219	Philippe C, ... Pubmed: 16473305	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3220	Philippe C, ... Pubmed: 16473305	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3221	Philippe C, ... Pubmed: 16473305	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3222	Philippe C, ... Pubmed: 16473305	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3223	Philippe C, ... Pubmed: 16473305	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3224	Philippe C, ... Pubmed: 16473305	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3225	Philippe C, ... Pubmed: 16473305	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3226	Philippe C, ... Pubmed: 16473305	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3227	Philippe C, ... Pubmed: 16473305	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3228	Philippe C, ... Pubmed: 16473305	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3229	Philippe C, ... Pubmed: 16473305	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3230	Philippe C, ... Pubmed: 16473305	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3231	Philippe C, ... Pubmed: 16473305	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3232	Philippe C, ... Pubmed: 16473305	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3233	Philippe C, ... Pubmed: 16473305	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3234	Philippe C, ... Pubmed: 16473305	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3275	Philippe C, ... Pubmed: 16473305	c.808delC	p.R270fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3360	Nielsen JB, ... Pubmed: 11313756	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
3400	Yamashita Y, ... Pubmed: 11738864	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
3401	Yamashita Y, ... Pubmed: 11738864	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
3402	Yamashita Y, ... Pubmed: 11738864	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
3411	Yamashita Y, ... Pubmed: 11738864	c.808delC	p.R270fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
3492	Bienvenu T, ... Pubmed: 12180070	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3493	Bienvenu T, ... Pubmed: 12180070	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3494	Bienvenu T, ... Pubmed: 12180070	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3495	Bienvenu T, ... Pubmed: 12180070	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3496	Bienvenu T, ... Pubmed: 12180070	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3497	Bienvenu T, ... Pubmed: 12180070	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3498	Bienvenu T, ... Pubmed: 12180070	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3499	Bienvenu T, ... Pubmed: 12180070	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3500	Bienvenu T, ... Pubmed: 12180070	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3501	Bienvenu T, ... Pubmed: 12180070	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3502	Bienvenu T, ... Pubmed: 12180070	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3503	Bienvenu T, ... Pubmed: 12180070	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3584	Li, ... Pubmed: 17089071	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3585	Li, ... Pubmed: 17089071	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3586	Li, ... Pubmed: 17089071	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3587	Li, ... Pubmed: 17089071	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3588	Li, ... Pubmed: 17089071	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3589	Li, ... Pubmed: 17089071	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3590	Li, ... Pubmed: 17089071	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
3717	Fukuda, ... Pubmed: 15737703	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
3718	Fukuda, ... Pubmed: 15737703	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
3719	Fukuda, ... Pubmed: 15737703	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
3720	Fukuda, ... Pubmed: 15737703	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
3721	Fukuda, ... Pubmed: 15737703	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
3722	Fukuda, ... Pubmed: 15737703	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
3723	Fukuda, ... Pubmed: 15737703	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
3724	Fukuda, ... Pubmed: 15737703	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
3725	Fukuda, ... Pubmed: 15737703	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
3726	Fukuda, ... Pubmed: 15737703	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
3727	Fukuda, ... Pubmed: 15737703	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
3728	Fukuda, ... Pubmed: 15737703	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
3729	Fukuda, ... Pubmed: 15737703	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
3730	Fukuda, ... Pubmed: 15737703	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
3731	Fukuda, ... Pubmed: 15737703	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
3743	Fukuda, ... Pubmed: 15737703	c.808delC	p.R270fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
3766	Fukuda, ... Pubmed: 15737703	c.808delC	p.R270fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
3795	Inui, ... Pubmed: 11376998	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
4068	Lee SSJ, ... Pubmed: 11738860	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
4069	Lee SSJ, ... Pubmed: 11738860	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
4149	Milunsky, ... Pubmed: 11960578	c.808C>T	p.R270X	nonsense	TRD-NLS	Not known	Mutation associated with disease	F
4150	Milunsky, ... Pubmed: 11960578	c.808C>T	p.R270X	nonsense	TRD-NLS	Not known	Mutation associated with disease	F
4151	Milunsky, ... Pubmed: 11960578	c.808C>T	p.R270X	nonsense	TRD-NLS	Not known	Mutation associated with disease	F
4224	Venancio, ... Pubmed: 17440498	c.808delC	p.R270fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
4225	Venancio, ... Pubmed: 17440498	c.808delC	p.R270fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - male variant	Mutation associated with disease	M
4266	de Lima, ... Pubmed: 19722030	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
4267	de Lima, ... Pubmed: 19722030	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
4268	de Lima, ... Pubmed: 19722030	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
4269	de Lima, ... Pubmed: 19722030	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
4270	de Lima, ... Pubmed: 19722030	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
4271	de Lima, ... Pubmed: 19722030	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
4272	de Lima, ... Pubmed: 19722030	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - Atypical	Mutation associated with disease	F
4311	Raizis, ... Pubmed: 19652677	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
4320	Raizis, ... Pubmed: 19652677	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
4382	Monnerat, ... Pubmed: 20031356	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
4383	Monnerat, ... Pubmed: 20031356	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - Classical	Mutation associated with disease	F
4491	Das, ...	c.808C>T	p.R270X	nonsense	TRD-NLS	Not known	Mutation associated with disease	F
4492	Das, ...	c.808C>T	p.R270X	nonsense	TRD-NLS	Not known	Mutation associated with disease	F
4493	Das, ...	c.808C>T	p.R270X	nonsense	TRD-NLS	Not known	Mutation associated with disease	F
4494	Das, ...	c.808C>T	p.R270X	nonsense	TRD-NLS	Not known	Mutation associated with disease	F
4495	Das, ...	c.808C>T	p.R270X	nonsense	TRD-NLS	Not known	Mutation associated with disease	F
4496	Das, ...	c.808C>T	p.R270X	nonsense	TRD-NLS	Not known	Mutation associated with disease	F
4721	Hadzsiev, ... Pubmed: 21160487	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
4722	Hadzsiev, ... Pubmed: 21160487	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
4723	Hadzsiev, ... Pubmed: 21160487	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
4814	Corbani, ... Pubmed: 21954873	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
4877	Zvereff, ... Pubmed: 22277191	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
4927	Todorov, ... Pubmed: 22525432	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
4928	Todorov, ... Pubmed: 22525432	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
4929	Todorov, ... Pubmed: 22525432	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
5058	Das, ... Pubmed: 23262346	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - not certain	Mutation associated with disease	F
5128	Maortua, ... Pubmed: 23810759	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
5129	Maortua, ... Pubmed: 23810759	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
6746	Daniela�Zahorakova, ... Pubmed: 26984561	c.808C>T	p.R270*	nonsense	NLS	Rett syndrome - classical	Mutation associated with disease	F
6745	Daniela�Zahorakova, ... Pubmed: 26984561	c.808C>T	p.R270*	nonsense	NLS	Not known - x-linked mental retardation	Mutation associated with disease	F
6605	Directly submitted	c.808delC	p.R270fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
6604	Directly submitted	c.808delC	p.R270fs	frameshift insertion or deletion	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
6450	Directly submitted	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
6449	Directly submitted	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
6448	Directly submitted	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
6447	Directly submitted	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
6446	Directly submitted	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
6445	Directly submitted	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
6444	Directly submitted	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
6443	Directly submitted	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
6441	Directly submitted	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
6442	Directly submitted	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
6440	Directly submitted	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
6439	Directly submitted	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
6438	Directly submitted	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
6437	Directly submitted	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
6436	Directly submitted	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
6435	Directly submitted	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
6434	Directly submitted	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
6432	Directly submitted	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
6433	Directly submitted	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
6431	Directly submitted	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
6430	Directly submitted	c.808C>T	p.R270X	nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
7014	Huong Le Thi Thanh , ... Pubmed: 30081849	c.808C > T		nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
7015	Huong Le Thi Thanh , ... Pubmed: 30081849	c.808C > T		nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
7016	Huong Le Thi Thanh , ... Pubmed: 30081849	c.808C > T		nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
7017	Huong Le Thi Thanh , ... Pubmed: 30081849	c.808C > T		nonsense	TRD-NLS	Rett syndrome - classical	Mutation associated with disease	F
3872	Fendri-Kriaa, ... Pubmed: 19309283	c.810_813delAAAG	p.K271fs	frameshift insertion or deletion	TRD	Rett syndrome - classical	Mutation associated with disease	F
450	Directly submitted	c.812_818del7	p.K271fs	Frameshift insertion or deletion	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1652	Directly submitted	c.815C>T	p.P272L	Missense	TRD	Rett syndrome - Not certain	Polymorphism not causing disease	F
1653	Directly submitted	c.815C>T	p.P272L	Missense	TRD	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	M
1654	Directly submitted	c.815C>T	p.P272L	Missense	TRD	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
2127	Cardiff, ...	c.815C>T	p.P272L	Missense	TRD	Rett syndrome - Atypical	Polymorphism not causing disease	F
2634	Zahorakova, ... Pubmed: 17387578	c.815C>T	p.P272L	missense	TRD	Rett syndrome - Classical	Polymorphism not causing disease	F
2768	Moog, ... Pubmed: 16376510	c.815C>T	p.P272L	missense	TRD	Not Rett synd. - mental retardation	Polymorphism not causing disease	M
3930	Moog, ... Pubmed: 16376510	c.815C>T	p.P272L	missense	TRD	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
3977	Zahorakova, ... Pubmed: 17387578	c.815C>T	p.P272L	missense	TRD	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
2609	Zahorakova, ... Pubmed: 17387578	c.816_832del17	p.G273fs	frameshift insertion or deletion	TRD	Rett syndrome - Classical	Mutation associated with disease	F
442	Directly submitted	c.819G>T	p.G273G	Silent	TRD	Not Rett synd. - Unaffected family member	Silent polymorphism	F
1735	Friez, ...	c.819G>T	p.G273G	Silent	TRD	Not known	Silent polymorphism	F
1899	Directly submitted	c.819G>T	p.G273G	Silent	TRD	Rett syndrome - Not certain	Silent polymorphism	F
2635	Zahorakova, ... Pubmed: 17387578	c.819G>T	p.G273G	silent	TRD	Rett syndrome - Classical	Silent polymorphism	F
2653	Lesca, ... Pubmed: 17383248	c.819G>T	p.G273G	silent	TRD	Not Rett synd. - sporadic mental retardation	Silent polymorphism	U
4105	Milunsky, ... Pubmed: 11960578	c.819delG	p.S274fs	frameshift insertion or deletion	TRD	Not known	Mutation associated with disease	F
5192	Maortua, ... Pubmed: 23810759	c.819G>T	p.G273G	silent	TRD	Not Rett synd. - normal control	Silent polymorphism	U
5193	Maortua, ... Pubmed: 23810759	c.819G>T	p.G273G	silent	TRD	Not Rett synd. - normal control	Silent polymorphism	U
5194	Maortua, ... Pubmed: 23810759	c.819G>T	p.G273G	silent	TRD	Not Rett synd. - normal control	Silent polymorphism	U
5195	Maortua, ... Pubmed: 23810759	c.819G>T	p.G273G	silent	TRD	Not Rett synd. - normal control	Silent polymorphism	U
6858	Daniela�Zahorakova, ... Pubmed: 26984561	c.819G>T	p.G273G	silent	TRD	Not Rett synd. - mental retardation	Silent polymorphism	F
5252	Chapleau, ... Pubmed: 23696494	c.820_1153del334ins67	uncertain	combined in-frame insertion and deletion	TRD, C-term	Rett syndrome - not certain	Mutation associated with disease	F
6747	Daniela�Zahorakova, ... Pubmed: 26984561	c.820_823dupAGTG	p.V275Efs*57	frameshift insertion or deletion	TRD	Rett syndrome - classical	Mutation associated with disease	F
3276	Philippe C, ... Pubmed: 16473305	c.822_1184del363	p.V275_S396del	in-frame insertion or deletion	TRD	Rett syndrome - not certain	Mutation associated with disease	F
6631	Directly submitted	c.829delG	p.A277fs	frameshift insertion or deletion	TRD	Rett syndrome - classical	Mutation associated with disease	F
2882	Smeets, ... Pubmed: 12966523	c.830delC	p.A277fs	frameshift insertion or deletion	TRD	Rett syndrome - classical	Mutation associated with disease	F
3277	Philippe C, ... Pubmed: 16473305	c.830_831ins23	p.A277fs	frameshift insertion or deletion	TRD	Rett syndrome - not certain	Mutation associated with disease	F
5236	Chapleau, ... Pubmed: 23696494	c.832G>A	p.A278T	missense	TRD	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
19	Bunyan, ...	c.834C>T	p.A278A	Silent	TRD	Rett syndrome - Not certain	Silent polymorphism	F
47	Hoffbuhr, ... Pubmed: 11402105	c.834C>T	p.A278A	Silent	TRD	Rett syndrome - Not certain	Silent polymorphism	F
1593	Bunyan, ...	c.834C>T	p.A278A	Silent	TRD	Rett syndrome - Not certain	Silent polymorphism	F
3026	Yntema HG, ... Pubmed: 12111644	c.834C>T	p.A278A	silent	TRD	Not Rett synd. - mental retardation	Silent polymorphism	M
3920	Lesca, ... Pubmed: 17383248	c.834C>T	p.A278A	silent	TRD	Not Rett synd. - non-Rett syndrome control	Silent polymorphism	U
3996	Coutinho, ... Pubmed: 17427193	c.834C>T	p.A278A	silent	TRD	Not Rett synd. - non-Rett syndrome control	Silent polymorphism	U
4497	Das, ...	c.834_939del106	p.A279fs	frameshift insertion or deletion	TRD	Not known	Mutation associated with disease	F
6859	Daniela�Zahorakova, ... Pubmed: 26984561	c.834C>T	p.A278A	silent	TRD	Rett syndrome - atypical	Silent polymorphism	F
2990	Chae, ... Pubmed: 15526954	c.836C>T	p.A279V	missense	TRD	Rett syndrome - classical	Unknown	F
2991	Chae, ... Pubmed: 15526954	c.836C>T	p.A279V	missense	TRD	Rett syndrome - classical	Unknown	F
2992	Chae, ... Pubmed: 15526954	c.836C>T	p.A279V	missense	TRD	Rett syndrome - classical	Unknown	F
1234	Erlandson, ... Pubmed: 11469283	c.840C>T	p.A280A	Silent	TRD	Not Rett synd. - Unaffected family member	Silent polymorphism	F
1649	Directly submitted	c.840C>T	p.A280A	Silent	TRD	Rett syndrome - Not certain	Silent polymorphism	F
4633	Piton, ... Pubmed: 20479760	c.840C>T	p.A280A	silent	TRD	Not Rett synd. - normal control	Silent polymorphism	U
4634	Piton, ... Pubmed: 20479760	c.840C>T	p.A280A	silent	TRD	Not Rett synd. - normal control	Silent polymorphism	U
6634	Directly submitted	c.842_843insT	p.E282fs	frameshift insertion or deletion	TRD	Rett syndrome - classical	Mutation associated with disease	F
1127	Buyse, ... Pubmed: 11055898	c.843C>T	p.A281A	Silent	TRD	Rett syndrome - Not certain	Silent polymorphism	F
1900	Directly submitted	c.843C>T	p.A281A	Silent	TRD	Rett syndrome - Not certain	Silent polymorphism	F
2043	Directly submitted	c.843C>T	p.A281A	Silent	TRD	Not known	Silent polymorphism	F
4619	Piton, ... Pubmed: 20479760	c.843C>T	p.A281A	silent	TRD	Not Rett synd. - schizophrenia	Silent polymorphism	U
5196	Maortua, ... Pubmed: 23810759	c.843C>T	p.A281A	silent	TRD	Not Rett synd. - normal control	Silent polymorphism	U
138	Amano, ... Pubmed: 10944854	c.849_1236del388	p.K284fs	Frameshift insertion or deletion	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1019	Couvert, ... Pubmed: 11309367	c.849C>G	p.A283A	Silent	TRD	Not Rett synd. - X-linked mental retardation	Silent polymorphism	M
1018	Couvert, ... Pubmed: 11309367	c.850A>G	p.K284E	Missense	TRD	Not Rett synd. - X-linked mental retardation	Unknown	M
3278	Philippe C, ... Pubmed: 16473305	c.851_1188del338	p.K284fs	frameshift insertion or deletion	TRD	Rett syndrome - not certain	Mutation associated with disease	F
1758	Friez, ...	c.854dupA	p.K286fs	Frameshift insertion or deletion	TRD	Not known	Mutation associated with disease	F
5253	Chapleau, ... Pubmed: 23696494	c.855_859del5ins12	p.Ala287Lysfs*46	combined frameshift insertion and deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
35	Hoffbuhr, ... Pubmed: 11402105	c.856_859delAAAG	p.K286fs	Frameshift insertion or deletion	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1607	Bunyan, ...	c.856_859delAAAG	p.K286fs	Frameshift insertion or deletion	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1841	Bunyan, ...	c.856_859delAAAG	p.K286fs	Frameshift insertion or deletion	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
2104	Cardiff, ...	c.856_859delAAAG	p.K286fs	Frameshift insertion or deletion	TRD	Rett syndrome - Atypical	Mutation associated with disease	F
2501	Bzduch V, ... Pubmed: 15633890	c.856_859delAAAG	p.K286fs	Frameshift insertion or deletion	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2610	Zahorakova, ... Pubmed: 17387578	c.856_859delAAAG	p.K286fs	frameshift insertion or deletion	TRD	Rett syndrome - Classical	Mutation associated with disease	F
3279	Philippe C, ... Pubmed: 16473305	c.856_859delAAAG	p.K286fs	frameshift insertion or deletion	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3355	Lee SSJ, ... Pubmed: 11738860	c.856_859delAAAG	p.K286fs	frameshift insertion or deletion	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3793	Inui, ... Pubmed: 11376998	c.856_859delAAAG	p.K286fs	frameshift insertion or deletion	TRD	Rett syndrome - not certain	Mutation associated with disease	F
6630	Directly submitted	c.856_859delAAAG	p.K286fs	frameshift insertion or deletion	TRD	Rett syndrome - classical	Mutation associated with disease	F
4498	Das, ...	c.857A>G	p.K286R	missense	TRD	Not known	Unknown	F
6748	Daniela�Zahorakova, ... Pubmed: 26984561	c.857_858dupAA	p.A287Kfs*3	frameshift insertion or deletion	TRD	Rett syndrome - classical	Mutation associated with disease	F
1140	Buyse, ... Pubmed: 11055898	c.859G>C	p.A287P	Missense	TRD	Rett syndrome - Not certain	Unknown	F
6629	Directly submitted	c.863_881del19	p.V288fs	frameshift insertion or deletion	TRD	Rett syndrome - classical	Mutation associated with disease	F
1799	Friez, ...	c.864dupG	p.K289fs	Frameshift insertion or deletion	TRD	Not known	Mutation associated with disease	F
2105	Cardiff, ...	c.865A>T	p.K289X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
3280	Philippe C, ... Pubmed: 16473305	c.865_866delAA	p.K289fs	frameshift insertion or deletion	TRD	Rett syndrome - not certain	Mutation associated with disease	F
4878	Zvereff, ... Pubmed: 22277191	c.867_1223delinsA	p.S291QfsX26	frameshift combined insertion and deletion	TRD, C-term	Rett syndrome - classical	Mutation associated with disease	F
3912	Khajuria, ...	c.869dupA	p.S291fs	frameshift insertion or deletion	TRD	Rett syndrome - classical	Mutation associated with disease	F
5060	Das, ... Pubmed: 23262346	c.869_880delinsCACA	p.E290AfsX38	frameshift combined insertion and deletion	TRD, C-term	Rett syndrome - classical	Mutation associated with disease	F
1141	Buyse, ... Pubmed: 11055898	c.871T>G	p.S291A	Missense	TRD	Rett syndrome - Not certain	Unknown	F
4879	Zvereff, ... Pubmed: 22277191	c.871_1044del	p.I293_S350del	in-frame insertion or deletion	TRD, C-term	Rett syndrome - atypical	Mutation associated with disease	F
3008	Pan, ... Pubmed: 12111643	c.874_875insA	p.S292fs	frameshift insertion or deletion	TRD	Rett syndrome - classical	Mutation associated with disease	F
101	Hoffbuhr, ... Pubmed: 11402105	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
102	Hoffbuhr, ... Pubmed: 11402105	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
119	Huppke, ... Pubmed: 10814718	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
148	Amano, ... Pubmed: 10944854	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
181	Obata, ... Pubmed: 10991688	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
182	Obata, ... Pubmed: 10991688	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
183	Obata, ... Pubmed: 10991688	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
184	Obata, ... Pubmed: 10991688	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
203	Hampson, ... Pubmed: 10991689	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
204	Hampson, ... Pubmed: 10991689	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
249	Bourdon, ... Pubmed: 11214906	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
250	Bourdon, ... Pubmed: 11214906	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
251	Bourdon, ... Pubmed: 11214906	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
252	Bourdon, ... Pubmed: 11214906	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
282	Trappe, ... Pubmed: 11309679	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
283	Trappe, ... Pubmed: 11309679	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
314	Auranen, ... Pubmed: 11245712	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
315	Auranen, ... Pubmed: 11245712	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
316	Auranen, ... Pubmed: 11245712	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
317	Auranen, ... Pubmed: 11245712	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
343	De Bona, ... Pubmed: 10854091	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
344	De Bona, ... Pubmed: 10854091	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
345	De Bona, ... Pubmed: 10854091	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
346	De Bona, ... Pubmed: 10854091	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
378	Directly submitted	c.880C>T	p.R294X	Nonsense	TRD	Not known	Mutation associated with disease	F
387	Directly submitted	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
388	Directly submitted	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
393	Directly submitted	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
403	Directly submitted	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
410	Directly submitted	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
420	Directly submitted	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
478	Directly submitted	c.880C>T	p.R294X	Nonsense	TRD	Not known	Mutation associated with disease	F
947	Bienvenu, ... Pubmed: 10814719	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
945	Bienvenu, ... Pubmed: 10814719	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
926	Bienvenu, ... Pubmed: 10814719	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
909	Directly submitted	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Forme fruste	Mutation associated with disease	U
907	Directly submitted	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
908	Directly submitted	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
905	Directly submitted	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
906	Directly submitted	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
904	Directly submitted	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
874	Xiang, ... Pubmed: 10745042	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
873	Xiang, ... Pubmed: 10745042	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
872	Xiang, ... Pubmed: 10745042	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1100	Buyse, ... Pubmed: 11055898	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1101	Buyse, ... Pubmed: 11055898	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1102	Buyse, ... Pubmed: 11055898	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1103	Buyse, ... Pubmed: 11055898	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1104	Buyse, ... Pubmed: 11055898	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1105	Buyse, ... Pubmed: 11055898	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1106	Buyse, ... Pubmed: 11055898	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1166	Girard, ... Pubmed: 11313764	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1167	Girard, ... Pubmed: 11313764	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1168	Girard, ... Pubmed: 11313764	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1211	Chae, ... Pubmed: 11913567	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1229	Erlandson, ... Pubmed: 11469283	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1230	Erlandson, ... Pubmed: 11469283	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1254	Huppke, ... Pubmed: 12075485	c.880_884del5	p.R294fs	Frameshift insertion or deletion	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1260	Ishii, ... Pubmed: 11738865	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1261	Ishii, ... Pubmed: 11738865	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1341	Laccone, ... Pubmed: 11241840	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1342	Laccone, ... Pubmed: 11241840	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1343	Laccone, ... Pubmed: 11241840	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1344	Laccone, ... Pubmed: 11241840	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1345	Laccone, ... Pubmed: 11241840	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1346	Laccone, ... Pubmed: 11241840	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1347	Laccone, ... Pubmed: 11241840	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1348	Laccone, ... Pubmed: 11241840	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1349	Laccone, ... Pubmed: 11241840	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1350	Laccone, ... Pubmed: 11241840	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1351	Laccone, ... Pubmed: 11241840	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1352	Laccone, ... Pubmed: 11241840	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1353	Laccone, ... Pubmed: 11241840	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1354	Laccone, ... Pubmed: 11241840	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1378	Lam, ... Pubmed: 11106359	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1418	Nicolao, ... Pubmed: 11462237	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1419	Nicolao, ... Pubmed: 11462237	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1420	Nicolao, ... Pubmed: 11462237	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1453	Vacca, ... Pubmed: 11269512	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1519	Yamada, ... Pubmed: 11524741	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - atypical	Mutation associated with disease	U
1689	Friez, ...	c.880C>T	p.R294X	Nonsense	TRD	Not known	Mutation associated with disease	F
1690	Friez, ...	c.880C>T	p.R294X	Nonsense	TRD	Not known	Mutation associated with disease	F
1694	Friez, ...	c.880C>T	p.R294X	Nonsense	TRD	Not known	Mutation associated with disease	F
1701	Friez, ...	c.880C>T	p.R294X	Nonsense	TRD	Not known	Mutation associated with disease	F
1718	Friez, ...	c.880C>T	p.R294X	Nonsense	TRD	Not known	Mutation associated with disease	F
1728	Friez, ...	c.880C>T	p.R294X	Nonsense	TRD	Not known	Mutation associated with disease	F
1731	Friez, ...	c.880C>T	p.R294X	Nonsense	TRD	Not known	Mutation associated with disease	F
1760	Friez, ...	c.880C>T	p.R294X	Nonsense	TRD	Not known	Mutation associated with disease	F
1784	Friez, ...	c.880C>T	p.R294X	Nonsense	TRD	Not known	Mutation associated with disease	F
1785	Friez, ...	c.880C>T	p.R294X	Nonsense	TRD	Not known	Mutation associated with disease	F
1791	Friez, ...	c.880C>T	p.R294X	Nonsense	TRD	Not known	Mutation associated with disease	F
1840	Bunyan, ...	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1901	Directly submitted	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1902	Directly submitted	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1928	Schanen, ... Pubmed: 15057977	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - atypical	Mutation associated with disease	F
1934	Schanen, ... Pubmed: 15057977	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
1953	Schanen, ... Pubmed: 15057977	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
1956	Schanen, ... Pubmed: 15057977	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
1958	Schanen, ... Pubmed: 15057977	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2048	Directly submitted	c.880C>T	p.R294X	Nonsense	TRD	Not known	Mutation associated with disease	F
2052	Directly submitted	c.880C>T	p.R294X	Nonsense	TRD	Not known	Mutation associated with disease	F
2064	Directly submitted	c.880C>T	p.R294X	Nonsense	TRD	Not known	Mutation associated with disease	F
2308	Cardiff, ...	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2309	Cardiff, ...	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Atypical	Mutation associated with disease	F
2310	Cardiff, ...	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2311	Cardiff, ...	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2312	Cardiff, ...	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
2313	Cardiff, ...	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Atypical	Mutation associated with disease	F
2314	Cardiff, ...	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2315	Cardiff, ...	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
2316	Cardiff, ...	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2317	Cardiff, ...	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2318	Cardiff, ...	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2319	Cardiff, ...	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2397	Monros, ... Pubmed: 11738885	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2403	Monros, ... Pubmed: 11738885	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2445	Monros, ... Pubmed: 11738885	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2449	Directly submitted	c.880C>T	p.R294X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2550	Lundvall, ... Pubmed: 17236109	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - male variant	Mutation associated with disease	M
2611	Zahorakova, ... Pubmed: 17387578	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2612	Zahorakova, ... Pubmed: 17387578	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2613	Zahorakova, ... Pubmed: 17387578	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2614	Zahorakova, ... Pubmed: 17387578	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2647	Stachon, ... Pubmed: 17420824	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - preserved speech	Mutation associated with disease	F
2828	Kim, ... Pubmed: 16672765	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2859	Conforti, ... Pubmed: 12567420	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2864	Conforti, ... Pubmed: 12567420	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2880	Smeets, ... Pubmed: 12966523	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2881	Smeets, ... Pubmed: 12966523	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2901	Djarmati, ... Pubmed: 17986102	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2911	Carney, ... Pubmed: 12770674	c.880C>T	p.R294X	nonsense	TRD	Not Rett synd. - autism only	Mutation associated with disease	F
2944	Kammoun, ... Pubmed: 15173251	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2970	Kammoun, ... Pubmed: 15173251	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - atypical	Mutation associated with disease	F
2984	Chae, ... Pubmed: 15526954	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2985	Chae, ... Pubmed: 15526954	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3006	Pan, ... Pubmed: 12111643	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3016	Xiang, ... Pubmed: 12081725	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3017	Xiang, ... Pubmed: 12081725	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3044	Yaron Y, ... Pubmed: 12325033	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3045	Yaron Y, ... Pubmed: 12325033	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3059	Giunti L, ... Pubmed: 11738883	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3060	Giunti L, ... Pubmed: 11738883	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3235	Philippe C, ... Pubmed: 16473305	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3236	Philippe C, ... Pubmed: 16473305	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3237	Philippe C, ... Pubmed: 16473305	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3238	Philippe C, ... Pubmed: 16473305	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3239	Philippe C, ... Pubmed: 16473305	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3240	Philippe C, ... Pubmed: 16473305	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3241	Philippe C, ... Pubmed: 16473305	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3242	Philippe C, ... Pubmed: 16473305	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3243	Philippe C, ... Pubmed: 16473305	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3244	Philippe C, ... Pubmed: 16473305	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3245	Philippe C, ... Pubmed: 16473305	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3246	Philippe C, ... Pubmed: 16473305	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3247	Philippe C, ... Pubmed: 16473305	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3248	Philippe C, ... Pubmed: 16473305	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3249	Philippe C, ... Pubmed: 16473305	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3250	Philippe C, ... Pubmed: 16473305	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3251	Philippe C, ... Pubmed: 16473305	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3252	Philippe C, ... Pubmed: 16473305	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3363	Nielsen JB, ... Pubmed: 11313756	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3364	Nielsen JB, ... Pubmed: 11313756	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3365	Nielsen JB, ... Pubmed: 11313756	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3403	Yamashita Y, ... Pubmed: 11738864	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3404	Yamashita Y, ... Pubmed: 11738864	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3405	Yamashita Y, ... Pubmed: 11738864	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - preserved speech	Mutation associated with disease	F
3504	Bienvenu T, ... Pubmed: 12180070	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3505	Bienvenu T, ... Pubmed: 12180070	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3506	Bienvenu T, ... Pubmed: 12180070	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3591	Li, ... Pubmed: 17089071	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3592	Li, ... Pubmed: 17089071	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3593	Li, ... Pubmed: 17089071	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3732	Fukuda, ... Pubmed: 15737703	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3733	Fukuda, ... Pubmed: 15737703	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3734	Fukuda, ... Pubmed: 15737703	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3735	Fukuda, ... Pubmed: 15737703	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3736	Fukuda, ... Pubmed: 15737703	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3737	Fukuda, ... Pubmed: 15737703	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3738	Fukuda, ... Pubmed: 15737703	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3739	Fukuda, ... Pubmed: 15737703	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - atypical	Mutation associated with disease	F
3740	Fukuda, ... Pubmed: 15737703	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - atypical	Mutation associated with disease	F
3741	Fukuda, ... Pubmed: 15737703	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - atypical	Mutation associated with disease	F
3742	Fukuda, ... Pubmed: 15737703	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - atypical	Mutation associated with disease	F
4090	Parmeggiani, ... Pubmed: 19189931	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
4091	Parmeggiani, ... Pubmed: 19189931	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
4129	Milunsky, ... Pubmed: 11960578	c.880C>T	p.R294X	nonsense	TRD	Not known	Mutation associated with disease	F
4130	Milunsky, ... Pubmed: 11960578	c.880C>T	p.R294X	nonsense	TRD	Not known	Mutation associated with disease	F
4131	Milunsky, ... Pubmed: 11960578	c.880C>T	p.R294X	nonsense	TRD	Not known	Mutation associated with disease	F
4132	Milunsky, ... Pubmed: 11960578	c.880C>T	p.R294X	nonsense	TRD	Not known	Mutation associated with disease	F
4133	Milunsky, ... Pubmed: 11960578	c.880C>T	p.R294X	nonsense	TRD	Not known	Mutation associated with disease	F
4134	Milunsky, ... Pubmed: 11960578	c.880C>T	p.R294X	nonsense	TRD	Not known	Mutation associated with disease	F
4293	de Lima, ... Pubmed: 19722030	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
4294	de Lima, ... Pubmed: 19722030	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
4295	de Lima, ... Pubmed: 19722030	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
4296	de Lima, ... Pubmed: 19722030	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - Atypical	Mutation associated with disease	F
4297	de Lima, ... Pubmed: 19722030	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - Atypical	Mutation associated with disease	F
4298	de Lima, ... Pubmed: 19722030	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - Atypical	Mutation associated with disease	F
4309	Raizis, ... Pubmed: 19652677	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
4384	Monnerat, ... Pubmed: 20031356	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - Atypical	Mutation associated with disease	F
4385	Monnerat, ... Pubmed: 20031356	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - Atypical	Mutation associated with disease	F
4499	Das, ...	c.880C>T	p.R294X	nonsense	TRD	Not known	Mutation associated with disease	F
4500	Das, ...	c.880C>T	p.R294X	nonsense	TRD	Not known	Mutation associated with disease	F
4501	Das, ...	c.880C>T	p.R294X	nonsense	TRD	Not known	Mutation associated with disease	F
4502	Das, ...	c.880C>T	p.R294X	nonsense	TRD	Not known	Mutation associated with disease	F
4503	Das, ...	c.880C>T	p.R294X	nonsense	TRD	Not known	Mutation associated with disease	F
4504	Das, ...	c.880C>T	p.R294X	nonsense	TRD	Not known	Mutation associated with disease	F
4505	Das, ...	c.880C>T	p.R294X	nonsense	TRD	Not known	Mutation associated with disease	F
4724	Hadzsiev, ... Pubmed: 21160487	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
4725	Hadzsiev, ... Pubmed: 21160487	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
4726	Hadzsiev, ... Pubmed: 21160487	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
4727	Hadzsiev, ... Pubmed: 21160487	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
4847	Psoni, ... Pubmed: 21982064	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
4913	Kim, ... Pubmed: 22476991	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
4921	Kim, ... Pubmed: 22476991	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
4930	Todorov, ... Pubmed: 22525432	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
5130	Maortua, ... Pubmed: 23810759	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
5131	Maortua, ... Pubmed: 23810759	c.880C>T	p.R294X	nonsense	TRD	Not Rett synd. - Rett-like	Mutation associated with disease	F
6761	"Daniela�Zahorakova, ... Pubmed: 26984561	c.880C>T	p.R294*	Missense	TRD	Not known - x-linked mental retardation	Mutation associated with disease	F
6429	Directly submitted	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6428	Directly submitted	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6427	Directly submitted	c.880C>T	p.R294X	nonsense	TRD	Not Rett synd. - mental retardation	Mutation associated with disease	F
6426	Directly submitted	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6425	Directly submitted	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6424	Directly submitted	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6423	Directly submitted	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6422	Directly submitted	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6421	Directly submitted	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6420	Directly submitted	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6419	Directly submitted	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - forme fruste	Mutation associated with disease	F
6418	Directly submitted	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6417	Directly submitted	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6416	Directly submitted	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6415	Directly submitted	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6414	Directly submitted	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6413	Directly submitted	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6412	Directly submitted	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6411	Directly submitted	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6410	Directly submitted	c.880C>T	p.R294X	nonsense	TRD	Not known	Mutation associated with disease	F
6409	Directly submitted	c.880C>T	p.R294X	nonsense	TRD	Rett syndrome - classical	Mutation associated with disease	F
7004	Zhu Wen, ... Pubmed: 28785396	c.880C>T		nonsense	TRD	Not Rett synd. - autism only	Mutation associated with disease	F
1903	Directly submitted	c.881G>C	p.R294P	Missense	TRD	Rett syndrome - Not certain	Polymorphism not causing disease	F
1904	Directly submitted	c.881G>C	p.R294P	Missense	TRD	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	M
3605	Li, ... Pubmed: 17089071	c.881_902del22	p.R294fs	frameshift insertion or deletion	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3281	Philippe C, ... Pubmed: 16473305	c.883delT	p.S295fs	frameshift insertion or deletion	TRD	Rett syndrome - not certain	Mutation associated with disease	F
1421	Nicolao, ... Pubmed: 11462237	c.889C>T	p.Q297X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1422	Nicolao, ... Pubmed: 11462237	c.889C>T	p.Q297X	Nonsense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
3519	Bienvenu T, ... Pubmed: 12180070	c.894_1095del202	p.E298fs	frameshift insertion or deletion	TRD	Rett syndrome - not certain	Mutation associated with disease	F
206	Hampson, ... Pubmed: 10991689	c.897C>T	p.T299T	Silent	TRD	Rett syndrome - Not certain	Silent polymorphism	F
436	Directly submitted	c.897C>T	p.T299T	Silent	TRD	Not Rett synd. - Unaffected family member	Silent polymorphism	F
1020	Couvert, ... Pubmed: 11309367	c.897C>T	p.T299T	Silent	TRD	Not Rett synd. - X-linked mental retardation	Silent polymorphism	M
1194	Bourdon, ... Pubmed: 11214906	c.897C>T	p.T299T	Silent	TRD	Rett syndrome - Not certain	Silent polymorphism	U
1540	Bourdon, ... Pubmed: 11214906	c.897C>T	p.T299T	Silent	TRD	Not Rett synd. - Unaffected family member	Silent polymorphism	F
1373	Laccone, ... Pubmed: 11241840	c.897C>T	p.T299T	Silent	TRD	Rett syndrome - Not certain	Silent polymorphism	U
1566	Beyer, ... Pubmed: 12384770	c.897C>T	p.T299T	Silent	TRD	Not Rett synd. - autism only	Silent polymorphism	F
1588	Beyer, ... Pubmed: 12384770	c.897C>T	p.T299T	Silent	TRD	Not Rett synd. - Unaffected family member	Silent polymorphism	M
1590	Bunyan, ...	c.897C>T	p.T299T	Silent	TRD	Rett syndrome - Not certain	Silent polymorphism	F
1809	Friez, ...	c.897C>T	p.T299T	Silent	TRD	Not known	Silent polymorphism	F
1810	Friez, ...	c.897C>T	p.T299T	Silent	TRD	Not known	Silent polymorphism	F
1823	Bunyan, ...	c.897C>T	p.T299T	Silent	TRD	Rett syndrome - Not certain	Silent polymorphism	F
1844	Bunyan, ...	c.897C>T	p.T299T	Silent	TRD	Rett syndrome - Not certain	Silent polymorphism	F
1867	Bunyan, ...	c.897C>T	p.T299T	Silent	TRD	Rett syndrome - Not certain	Silent polymorphism	F
2007	Directly submitted	c.897C>T	p.T299T	Silent	TRD	Not known	Silent polymorphism	F
2059	Directly submitted	c.897C>T	p.T299T	Silent	TRD	Not known	Silent polymorphism	F
2088	Cardiff, ...	[c.897C>T (+) c.(378_1461)_(378_1461)del]	[p.T299T (+) p.(N126+S486)fs]	Frameshift insertion or deletion	Not known	Rett syndrome - Classical	Mutation associated with disease	F
2089	Cardiff, ...	c.897C>T	p.T299T	Silent	TRD	Not Rett synd. - Unaffected family member	Silent polymorphism	F
2122	Cardiff, ...	c.897C>T	p.T299T	Silent	TRD	Rett syndrome - Atypical	Silent polymorphism	F
2376	Akane Shibayama, ... Pubmed: 15211631	c.897C>T	p.T299T	Silent	TRD	Not Rett synd. - autism only	Silent polymorphism	F
2521	Tejada M-I, ... Pubmed: 16879196	c.897C>T	p.T299T	Silent	TRD	Not Rett synd. - Sporadic mental retardation	Silent polymorphism	F
2654	Lesca, ... Pubmed: 17383248	c.897C>T	p.T299T	silent	TRD	Not Rett synd. - sporadic mental retardation	Silent polymorphism	U
4629	Piton, ... Pubmed: 20479760	c.897C>T	p.T299T	silent	TRD	Not Rett synd. - normal control	Silent polymorphism	U
4630	Piton, ... Pubmed: 20479760	c.897C>T	p.T299T	silent	TRD	Not Rett synd. - normal control	Silent polymorphism	U
4631	Piton, ... Pubmed: 20479760	c.897C>T	p.T299T	silent	TRD	Not Rett synd. - normal control	Silent polymorphism	U
4815	Corbani, ... Pubmed: 21954873	c.897C>T	p.T299T	silent	TRD	Not Rett synd. - not certain	Silent polymorphism	F
4862	Psoni, ... Pubmed: 21982064	c.897C>T	p.T299T	silent	TRD	Rett syndrome - atypical	Silent polymorphism	F
5081	Wang, ... Pubmed: 23591336	c.897C>T	p.T299T	silent	TRD	Not Rett synd. - autism	Silent polymorphism	M
5197	Maortua, ... Pubmed: 23810759	c.897C>T	p.T299T	silent	TRD	Rett syndrome - not certain	Silent polymorphism	F
5198	Maortua, ... Pubmed: 23810759	c.897C>T	p.T299T	silent	TRD	Not Rett synd. - normal control	Silent polymorphism	U
5199	Maortua, ... Pubmed: 23810759	c.897C>T	p.T299T	silent	TRD	Not Rett synd. - normal control	Silent polymorphism	U
5200	Maortua, ... Pubmed: 23810759	c.897C>T	p.T299T	silent	TRD	Not Rett synd. - normal control	Silent polymorphism	U
5201	Maortua, ... Pubmed: 23810759	c.897C>T	p.T299T	silent	TRD	Not Rett synd. - normal control	Silent polymorphism	U
5202	Maortua, ... Pubmed: 23810759	c.897C>T	p.T299T	silent	TRD	Not Rett synd. - normal control	Silent polymorphism	U
5203	Maortua, ... Pubmed: 23810759	c.897C>T	p.T299T	silent	TRD	Not Rett synd. - normal control	Silent polymorphism	U
5204	Maortua, ... Pubmed: 23810759	c.897C>T	p.T299T	silent	TRD	Not Rett synd. - normal control	Silent polymorphism	U
5205	Maortua, ... Pubmed: 23810759	c.897C>T	p.T299T	silent	TRD	Not Rett synd. - normal control	Silent polymorphism	U
6861	Daniela�Zahorakova, ... Pubmed: 26984561	c.897C>T	p.T299T	silent	TRD	Not Rett synd. - mental retardation	Silent polymorphism	F
6860	Daniela�Zahorakova, ... Pubmed: 26984561	c.897C>T	p.T299T	silent	TRD	Not Rett synd. - mental retardation	Silent polymorphism	F
1202	Bienvenu, ... Pubmed: 11524737	c.898_1099del202	p.V300fs	Frameshift insertion or deletion	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1400	Nicolao, ... Pubmed: 11462237	c.898G>A	p.V300I	Missense	TRD	Rett syndrome - Classical	Unknown	F
1620	Bunyan, ...	c.898_904del7	p.V300fs	Frameshift insertion or deletion	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
2890	Djarmati, ... Pubmed: 17986102	c.898_901del	p.V300fs	frameshift insertion or deletion	TRD	Rett syndrome - classical	Mutation associated with disease	F
3282	Philippe C, ... Pubmed: 16473305	c.898delG	p.V300fs	frameshift insertion or deletion	TRD	Rett syndrome - not certain	Mutation associated with disease	F
4880	Zvereff, ... Pubmed: 22277191	c.898G>A	p.V300I	missense	TRD	Not Rett synd. - autism	Unknown	F
4881	Zvereff, ... Pubmed: 22277191	c.898G>A	p.V300I	missense	TRD	Not Rett synd. - unaffected family member	Unknown	F
4386	Monnerat, ... Pubmed: 20031356	c.900_908del	p.L301_I303del	in-frame insertion or deletion	TRD	Rett syndrome - forme fruste	Unknown	F
1432	Nicolao, ... Pubmed: 11462237	c.903C>T	p.L301L	Silent	TRD	Rett syndrome - Classical	Silent polymorphism	F
120	Huppke, ... Pubmed: 10814718	c.904C>G	p.P302A	Missense	TRD	Rett syndrome - Preserved speech	Unknown	F
318	Auranen, ... Pubmed: 11245712	c.904C>G	p.P302A	Missense	TRD	Rett syndrome - Classical	Unknown	F
2615	Zahorakova, ... Pubmed: 17387578	c.904C>T	p.P302S	missense	TRD	Rett syndrome - Classical	Unknown	F
3080	Giunti L, ... Pubmed: 11738883	c.904C>G	p.P302A	missense	TRD	Rett syndrome - not certain	Unknown	F
3140	Philippe C, ... Pubmed: 16473305	c.904C>G	p.P302A	missense	TRD	Rett syndrome - not certain	Unknown	F
3626	Fukuda, ... Pubmed: 15737703	c.904C>A	p.P302T	missense	TRD	Rett syndrome - classical	Unknown	F
11	Bunyan, ...	c.905C>G	p.P302R	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
26	Bunyan, ...	c.905C>G	p.P302R	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
144	Amano, ... Pubmed: 10944854	c.905C>A	p.P302H	Missense	TRD	Rett syndrome - Not certain	Unknown	U
232	Bourdon, ... Pubmed: 11214906	c.905C>G	p.P302R	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
233	Bourdon, ... Pubmed: 11214906	c.905C>G	p.P302R	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
938	Bienvenu, ... Pubmed: 10814719	c.905C>G	p.P302R	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
910	Directly submitted	c.905C>T	p.P302L	Missense	TRD	Rett syndrome - Classical	Unknown	U
1171	Girard, ... Pubmed: 11313764	c.905C>G	p.P302R	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1302	Laccone, ... Pubmed: 11241840	c.905C>G	p.P302R	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1303	Laccone, ... Pubmed: 11241840	c.905C>G	p.P302R	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1636	Bunyan, ...	c.905C>T	p.P302L	Missense	TRD	Rett syndrome - Not certain	Unknown	F
1686	Friez, ...	c.905C>T	p.P302L	Missense	TRD	Not known	Unknown	F
2174	Cardiff, ...	c.905C>T	p.P302L	Missense	TRD	Rett syndrome - Classical	Unknown	F
2175	Cardiff, ...	c.905C>G	p.P302R	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
2176	Cardiff, ...	c.905C>G	p.P302R	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
2450	Directly submitted	c.905C>G	p.P302R	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2466	Directly submitted	c.905C>G	p.P302R	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
3381	Nielsen JB, ... Pubmed: 11313756	c.905C>T	p.P302L	missense	TRD	Rett syndrome - classical	Unknown	F
3398	Yamashita Y, ... Pubmed: 11738864	c.905C>G	p.P302R	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3452	Bienvenu T, ... Pubmed: 12180070	c.905C>T	p.P302L	missense	TRD	Rett syndrome - not certain	Unknown	F
3676	Fukuda, ... Pubmed: 15737703	c.905C>A	p.P302H	missense	TRD	Rett syndrome - classical	Unknown	F
3677	Fukuda, ... Pubmed: 15737703	c.905C>A	p.P302H	missense	TRD	Rett syndrome - classical	Unknown	F
3678	Fukuda, ... Pubmed: 15737703	c.905C>G	p.P302R	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
4920	Kim, ... Pubmed: 22476991	c.905C>G	p.P302R	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
7036	Tsutomu Shioda , ... Pubmed: 29631775	c.905C>G		missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2753	Campos, ... Pubmed: 17084570	c.906C>G	p.P302P	silent	TRD	Not Rett synd. - mental retardation	Silent polymorphism	M
3283	Philippe C, ... Pubmed: 16473305	c.906delC	p.I303fs	frameshift insertion or deletion	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3620	Li, ... Pubmed: 17089071	c.906_1138del233insAC	p.I303_V380delinsL	in-frame combined insertion and deletion	TRD, C-term	Rett syndrome - not certain	Mutation associated with disease	F
3141	Philippe C, ... Pubmed: 16473305	c.908T>G	p.I303S	missense	TRD	Rett syndrome - not certain	Unknown	F
2977	Kammoun, ... Pubmed: 15173251	c.909C>G	p.I303M	missense	TRD	Not Rett synd.	Unknown	F
4882	Zvereff, ... Pubmed: 22277191	c.909C>G	p.I303M	missense	TRD	Not Rett synd. - nonspecific mental retardation	Unknown	F
2015	Directly submitted	c.910A>G	p.K304E	Missense	TRD	Not known	Unknown	F
3142	Philippe C, ... Pubmed: 16473305	c.910A>G	p.K304E	missense	TRD	Rett syndrome - not certain	Unknown	F
4506	Das, ...	c.911A>G	p.K304R	missense	TRD	Not known	Unknown	F
3559	Li, ... Pubmed: 17089071	c.913A>G	p.K305E	missense	TRD	Rett syndrome - not certain	Unknown	F
30	Hoffbuhr, ... Pubmed: 11402105	c.914A>G	p.K305R	Missense	TRD	Rett syndrome - Not certain	Unknown	F
143	Amano, ... Pubmed: 10944854	c.914_1172del259	p.K305fs	Frameshift insertion or deletion	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1142	Buyse, ... Pubmed: 11055898	c.914A>G	p.K305R	Missense	TRD	Rett syndrome - Not certain	Unknown	F
2408	Monros, ... Pubmed: 11738885	c.914A>G	p.K305R	Missense	TRD	Rett syndrome - Classical	Unknown	F
3627	Fukuda, ... Pubmed: 15737703	c.914A>G	p.K305R	missense	TRD	Rett syndrome - classical	Unknown	F
6617	Directly submitted	c.914A>C	p.K305T	missense	TRD	Rett syndrome - classical	Unknown	F
25	Bunyan, ...	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
73	Hoffbuhr, ... Pubmed: 11402105	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
74	Hoffbuhr, ... Pubmed: 11402105	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
75	Hoffbuhr, ... Pubmed: 11402105	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
76	Hoffbuhr, ... Pubmed: 11402105	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
77	Hoffbuhr, ... Pubmed: 11402105	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
78	Hoffbuhr, ... Pubmed: 11402105	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
121	Huppke, ... Pubmed: 10814718	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
133	Amano, ... Pubmed: 10944854	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
136	Amano, ... Pubmed: 10944854	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
168	Obata, ... Pubmed: 10991688	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Preserved speech	Mutation associated with disease	F
169	Obata, ... Pubmed: 10991688	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
170	Obata, ... Pubmed: 10991688	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
171	Obata, ... Pubmed: 10991688	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
172	Obata, ... Pubmed: 10991688	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
194	Hampson, ... Pubmed: 10991689	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
234	Bourdon, ... Pubmed: 11214906	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
235	Bourdon, ... Pubmed: 11214906	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
269	Trappe, ... Pubmed: 11309679	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
319	Auranen, ... Pubmed: 11245712	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
320	Auranen, ... Pubmed: 11245712	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
321	Auranen, ... Pubmed: 11245712	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
322	Auranen, ... Pubmed: 11245712	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
323	Auranen, ... Pubmed: 11245712	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
324	Auranen, ... Pubmed: 11245712	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
385	Directly submitted	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
409	Directly submitted	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Atypical	Mutation associated with disease	F
452	Directly submitted	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
459	Directly submitted	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Atypical	Mutation associated with disease	F
469	Directly submitted	c.916C>T	p.R306C	Missense	TRD	Not known	Mutation associated with disease	F
932	Bienvenu, ... Pubmed: 10814719	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
927	Bienvenu, ... Pubmed: 10814719	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
913	Directly submitted	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	U
911	Directly submitted	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	U
912	Directly submitted	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	U
862	Xiang, ... Pubmed: 10745042	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
861	Xiang, ... Pubmed: 10745042	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
860	Xiang, ... Pubmed: 10745042	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
859	Xiang, ... Pubmed: 10745042	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
858	Xiang, ... Pubmed: 10745042	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
857	Xiang, ... Pubmed: 10745042	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
856	Xiang, ... Pubmed: 10745042	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1054	Buyse, ... Pubmed: 11055898	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1055	Buyse, ... Pubmed: 11055898	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1056	Buyse, ... Pubmed: 11055898	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1057	Buyse, ... Pubmed: 11055898	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1058	Buyse, ... Pubmed: 11055898	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1059	Buyse, ... Pubmed: 11055898	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1060	Buyse, ... Pubmed: 11055898	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1061	Buyse, ... Pubmed: 11055898	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1178	Zappella, ... Pubmed: 11746022	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Preserved speech	Mutation associated with disease	F
1209	Chae, ... Pubmed: 11913567	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1231	Erlandson, ... Pubmed: 11469283	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1232	Erlandson, ... Pubmed: 11469283	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1304	Laccone, ... Pubmed: 11241840	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1305	Laccone, ... Pubmed: 11241840	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1306	Laccone, ... Pubmed: 11241840	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	U
1401	Nicolao, ... Pubmed: 11462237	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1402	Nicolao, ... Pubmed: 11462237	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1454	Vacca, ... Pubmed: 11269512	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
1483	Wan, ... Pubmed: 10577905	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1520	Yamada, ... Pubmed: 11524741	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - atypical	Mutation associated with disease	U
1554	Directly submitted	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
1555	Fridman C, ...	c.916C>T	p.R306C	Missense	TRD	Not Rett synd. - angelman syndrome	Mutation associated with disease	F
1558	Directly submitted	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - atypical	Mutation associated with disease	F
1609	Bunyan, ...	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1706	Friez, ...	c.916C>T	p.R306C	Missense	TRD	Not known	Mutation associated with disease	F
1748	Friez, ...	c.916C>T	p.R306C	Missense	TRD	Not known	Mutation associated with disease	F
1765	Friez, ...	c.916C>T	p.R306C	Missense	TRD	Not known	Mutation associated with disease	F
1773	Friez, ...	c.916C>T	p.R306C	Missense	TRD	Not known	Mutation associated with disease	F
1778	Friez, ...	c.916C>T	p.R306C	Missense	TRD	Not known	Mutation associated with disease	F
1789	Friez, ...	c.916C>T	p.R306C	Missense	TRD	Not known	Mutation associated with disease	F
1807	Friez, ...	c.916C>T	p.R306C	Missense	TRD	Not known	Mutation associated with disease	F
1832	Bunyan, ...	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1833	Bunyan, ...	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1905	Directly submitted	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1959	Schanen, ... Pubmed: 15057977	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - atypical	Mutation associated with disease	F
1964	Schanen, ... Pubmed: 15057977	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - atypical	Mutation associated with disease	F
2011	Directly submitted	c.916C>T	p.R306C	Missense	TRD	Not known	Mutation associated with disease	F
2032	Directly submitted	c.916C>T	p.R306C	Missense	TRD	Not known	Mutation associated with disease	F
2035	Directly submitted	c.916C>T	p.R306C	Missense	TRD	Not known	Mutation associated with disease	F
2040	Directly submitted	c.916C>T	p.R306C	Missense	TRD	Not known	Mutation associated with disease	F
2054	Directly submitted	c.916C>T	p.R306C	Missense	TRD	Not known	Mutation associated with disease	F
2320	Cardiff, ...	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2322	Cardiff, ...	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
2323	Cardiff, ...	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2324	Cardiff, ...	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
2325	Cardiff, ...	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Atypical	Mutation associated with disease	F
2326	Cardiff, ...	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2327	Cardiff, ...	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
2329	Cardiff, ...	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
2330	Cardiff, ...	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Atypical	Mutation associated with disease	F
2400	Directly submitted	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2409	Directly submitted	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2413	Directly submitted	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Preserved speech	Mutation associated with disease	F
2432	Monros, ... Pubmed: 11738885	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2437	Monros, ... Pubmed: 11738885	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2467	Directly submitted	c.916C>T	p.R306C	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2488	Peter Huppke, ... Pubmed: 16690727	c.916C>T	p.R306C	Missense	TRD	Not known	Mutation associated with disease	F
2616	Zahorakova, ... Pubmed: 17387578	c.916C>T	p.R306C	missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2617	Zahorakova, ... Pubmed: 17387578	c.916C>T	p.R306C	missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2618	Zahorakova, ... Pubmed: 17387578	c.916C>T	p.R306C	missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2619	Zahorakova, ... Pubmed: 17387578	c.916C>T	p.R306C	missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2620	Zahorakova, ... Pubmed: 17387578	c.916C>T	p.R306C	missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2648	Voutoufianakis, ... Pubmed: 17276711	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
2815	Kim, ... Pubmed: 16672765	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2816	Kim, ... Pubmed: 16672765	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2852	Conforti, ... Pubmed: 12567420	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2853	Conforti, ... Pubmed: 12567420	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2875	Smeets, ... Pubmed: 12966523	c.916C>T	p.R306C	missense	TRD	Rett syndrome - forme fruste	Mutation associated with disease	F
2876	Smeets, ... Pubmed: 12966523	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2877	Smeets, ... Pubmed: 12966523	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2878	Smeets, ... Pubmed: 12966523	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2902	Djarmati, ... Pubmed: 17986102	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2903	Djarmati, ... Pubmed: 17986102	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2945	Kammoun, ... Pubmed: 15173251	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2946	Kammoun, ... Pubmed: 15173251	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2947	Kammoun, ... Pubmed: 15173251	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2976	Kammoun, ... Pubmed: 15173251	c.916C>T	p.R306C	missense	TRD	Not Rett synd.	Mutation associated with disease	F
3001	Pan, ... Pubmed: 12111643	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3002	Pan, ... Pubmed: 12111643	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3014	Xiang, ... Pubmed: 12081725	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3015	Xiang, ... Pubmed: 12081725	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3018	Xiang, ... Pubmed: 12081725	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3143	Philippe C, ... Pubmed: 16473305	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3144	Philippe C, ... Pubmed: 16473305	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3145	Philippe C, ... Pubmed: 16473305	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3146	Philippe C, ... Pubmed: 16473305	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3147	Philippe C, ... Pubmed: 16473305	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3148	Philippe C, ... Pubmed: 16473305	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3149	Philippe C, ... Pubmed: 16473305	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3150	Philippe C, ... Pubmed: 16473305	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3151	Philippe C, ... Pubmed: 16473305	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3152	Philippe C, ... Pubmed: 16473305	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3153	Philippe C, ... Pubmed: 16473305	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3154	Philippe C, ... Pubmed: 16473305	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3155	Philippe C, ... Pubmed: 16473305	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3156	Philippe C, ... Pubmed: 16473305	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3157	Philippe C, ... Pubmed: 16473305	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3158	Philippe C, ... Pubmed: 16473305	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3361	Nielsen JB, ... Pubmed: 11313756	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3362	Nielsen JB, ... Pubmed: 11313756	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3386	Yamashita Y, ... Pubmed: 11738864	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3387	Yamashita Y, ... Pubmed: 11738864	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3388	Yamashita Y, ... Pubmed: 11738864	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3389	Yamashita Y, ... Pubmed: 11738864	c.916C>T	p.R306C	missense	TRD	Rett syndrome - preserved speech	Mutation associated with disease	F
3453	Bienvenu T, ... Pubmed: 12180070	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3454	Bienvenu T, ... Pubmed: 12180070	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3455	Bienvenu T, ... Pubmed: 12180070	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3456	Bienvenu T, ... Pubmed: 12180070	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3457	Bienvenu T, ... Pubmed: 12180070	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3458	Bienvenu T, ... Pubmed: 12180070	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3459	Bienvenu T, ... Pubmed: 12180070	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3460	Bienvenu T, ... Pubmed: 12180070	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3461	Bienvenu T, ... Pubmed: 12180070	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3560	Li, ... Pubmed: 17089071	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3561	Li, ... Pubmed: 17089071	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3562	Li, ... Pubmed: 17089071	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3563	Li, ... Pubmed: 17089071	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3679	Fukuda, ... Pubmed: 15737703	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3680	Fukuda, ... Pubmed: 15737703	c.916C>T	p.R306C	missense	TRD	Rett syndrome - atypical	Mutation associated with disease	F
3681	Fukuda, ... Pubmed: 15737703	c.916C>T	p.R306C	missense	TRD	Rett syndrome - atypical	Mutation associated with disease	F
3682	Fukuda, ... Pubmed: 15737703	c.916C>T	p.R306C	missense	TRD	Rett syndrome - atypical	Mutation associated with disease	F
3683	Fukuda, ... Pubmed: 15737703	c.916C>T	p.R306C	missense	TRD	Rett syndrome - atypical	Mutation associated with disease	F
3684	Fukuda, ... Pubmed: 15737703	c.916C>T	p.R306C	missense	TRD	Rett syndrome - atypical	Mutation associated with disease	F
3685	Fukuda, ... Pubmed: 15737703	c.916C>T	p.R306C	missense	TRD	Rett syndrome - atypical	Mutation associated with disease	F
3797	Inui, ... Pubmed: 11376998	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3806	Wong, ... Pubmed: 18174559	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3873	Fendri-Kriaa, ... Pubmed: 19309283	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
4066	Lee SSJ, ... Pubmed: 11738860	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
4088	Parmeggiani, ... Pubmed: 19189931	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
4089	Parmeggiani, ... Pubmed: 19189931	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
4122	Milunsky, ... Pubmed: 11960578	c.916C>T	p.R306C	missense	TRD	Not known	Mutation associated with disease	F
4123	Milunsky, ... Pubmed: 11960578	c.916C>T	p.R306C	missense	TRD	Not known	Mutation associated with disease	F
4124	Milunsky, ... Pubmed: 11960578	c.916C>T	p.R306C	missense	TRD	Not known	Mutation associated with disease	F
4125	Milunsky, ... Pubmed: 11960578	c.916C>T	p.R306C	missense	TRD	Not known	Mutation associated with disease	F
4126	Milunsky, ... Pubmed: 11960578	c.916C>T	p.R306C	missense	TRD	Not known	Mutation associated with disease	F
4127	Milunsky, ... Pubmed: 11960578	c.916C>T	p.R306C	missense	TRD	Not known	Mutation associated with disease	F
4128	Milunsky, ... Pubmed: 11960578	c.916C>T	p.R306C	missense	TRD	Not known	Mutation associated with disease	F
5299	Suter, ... Pubmed: 23921973	c.916C>T	p.R306C	missense	TRD	Rett syndrome - forme fruste	Mutation associated with disease	F
4275	de Lima, ... Pubmed: 19722030	c.916C>T	p.R306C	missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
4276	de Lima, ... Pubmed: 19722030	c.916C>T	p.R306C	missense	TRD	Rett syndrome - Atypical	Mutation associated with disease	F
4277	de Lima, ... Pubmed: 19722030	c.916C>T	p.R306C	missense	TRD	Rett syndrome - Atypical	Mutation associated with disease	F
4278	de Lima, ... Pubmed: 19722030	c.916C>T	p.R306C	missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
4279	de Lima, ... Pubmed: 19722030	c.916C>T	p.R306C	missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
4280	de Lima, ... Pubmed: 19722030	c.916C>T	p.R306C	missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
4281	de Lima, ... Pubmed: 19722030	c.916C>T	p.R306C	missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
4282	de Lima, ... Pubmed: 19722030	c.916C>T	p.R306C	missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
4283	de Lima, ... Pubmed: 19722030	c.916C>T	p.R306C	missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
4284	de Lima, ... Pubmed: 19722030	c.916C>T	p.R306C	missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
4310	Raizis, ... Pubmed: 19652677	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
4507	Das, ...	c.916C>T	p.R306C	missense	TRD	Not known	Mutation associated with disease	F
4508	Das, ...	c.916C>T	p.R306C	missense	TRD	Not known	Mutation associated with disease	F
4509	Das, ...	c.916C>T	p.R306C	missense	TRD	Not known	Mutation associated with disease	F
4510	Das, ...	c.916C>T	p.R306C	missense	TRD	Not known	Mutation associated with disease	F
4511	Das, ...	c.916C>T	p.R306C	missense	TRD	Not known	Mutation associated with disease	F
4747	Hadzsiev, ... Pubmed: 21160487	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
4816	Corbani, ... Pubmed: 21954873	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
4840	Psoni, ... Pubmed: 21982064	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
4841	Psoni, ... Pubmed: 21982064	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
4883	Zvereff, ... Pubmed: 22277191	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
4884	Zvereff, ... Pubmed: 22277191	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
4885	Zvereff, ... Pubmed: 22277191	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
4886	Zvereff, ... Pubmed: 22277191	c.916C>T	p.R306C	missense	TRD	Rett syndrome - atypical	Mutation associated with disease	F
4887	Zvereff, ... Pubmed: 22277191	c.916C>T	p.R306C	missense	TRD	Rett syndrome - atypical	Mutation associated with disease	F
4908	Kim, ... Pubmed: 22476991	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
4909	Kim, ... Pubmed: 22476991	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
4910	Kim, ... Pubmed: 22476991	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
4924	Todorov, ... Pubmed: 22525432	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
5047	Das, ... Pubmed: 23262346	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
5048	Das, ... Pubmed: 23262346	c.916C>T	p.R306C	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
6876	Lewis Suzanne	c.916C>T	p.Arg306Cys	missense	TRD	Rett syndrome - atypical	Mutation associated with disease	F
6751	Daniela�Zahorakova, ... Pubmed: 26984561	c.916C>T	p.R306C	missense	TRD	Rett syndrome - atypical	Mutation associated with disease	F
6750	Daniela�Zahorakova, ... Pubmed: 26984561	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6749	Daniela�Zahorakova, ... Pubmed: 26984561	c.916C>T	p.R306C	missense	TRD	Not known - x-linked mental retardation	Mutation associated with disease	F
6384	Directly submitted	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6383	Directly submitted	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6382	Directly submitted	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6381	Directly submitted	c.916C>T	p.R306C	missense	TRD	Not Rett synd. - mental retardation and autism	Mutation associated with disease	F
6380	Directly submitted	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6379	Directly submitted	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6378	Directly submitted	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6377	Directly submitted	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6376	Directly submitted	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6374	Directly submitted	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6375	Directly submitted	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6373	Directly submitted	c.916C>T	p.R306C	missense	TRD	Rett syndrome - forme fruste	Mutation associated with disease	F
6372	Directly submitted	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6371	Directly submitted	c.916C>T	p.R306C	missense	TRD	Not Rett synd. - sporadic mental retardation	Mutation associated with disease	F
6370	Directly submitted	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6369	Directly submitted	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6367	Directly submitted	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6368	Directly submitted	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6366	Directly submitted	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6365	Directly submitted	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6364	Directly submitted	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6363	Directly submitted	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6361	Directly submitted	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6362	Directly submitted	c.916C>T	p.R306C	missense	TRD	Not Rett synd. - sporadic mental retardation	Mutation associated with disease	F
6360	Directly submitted	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6359	Directly submitted	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6358	Directly submitted	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6357	Directly submitted	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6356	Directly submitted	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6355	Directly submitted	c.916C>T	p.R306C	missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
6354	Directly submitted	c.916C>T	p.R306C	missense	TRD	Not Rett synd. - sporadic mental retardation	Mutation associated with disease	F
6996	Qingping Zhang, ... Pubmed: 28394482	c.916C > T		missense	TRD	Rett syndrome - preserved speech	Mutation associated with disease	F
7035	Tsutomu Shioda , ... Pubmed: 29631775	c.916C>T		missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3	Bunyan, ...	c.917G>A	p.R306H	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
413	Directly submitted	c.917G>A	p.R306H	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
467	Directly submitted	c.917G>A	p.R306H	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
476	Directly submitted	c.917G>A	p.R306H	Missense	TRD	Not known	Mutation associated with disease	F
1062	Buyse, ... Pubmed: 11055898	c.917G>A	p.R306H	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1617	Bunyan, ...	c.917G>A	p.R306H	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1630	Bunyan, ...	c.917G>A	p.R306H	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1827	Bunyan, ...	c.917G>A	p.R306H	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1906	Directly submitted	c.917G>A	p.R306H	Missense	TRD	Rett syndrome - Not certain	Mutation associated with disease	F
1929	Schanen, ... Pubmed: 15057977	c.917G>A	p.R306H	Missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
2321	Cardiff, ...	c.917G>A	p.R306H	Missense	TRD	Rett syndrome - Atypical	Mutation associated with disease	F
2328	Cardiff, ...	c.917G>A	p.R306H	Missense	TRD	Rett syndrome - Atypical	Mutation associated with disease	F
2331	Cardiff, ...	c.917G>A	p.R306H	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
2332	Cardiff, ...	c.917G>A	p.R306H	Missense	TRD	Rett syndrome - Classical	Mutation associated with disease	F
3159	Philippe C, ... Pubmed: 16473305	c.917G>A	p.R306H	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3160	Philippe C, ... Pubmed: 16473305	c.917G>A	p.R306H	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3161	Philippe C, ... Pubmed: 16473305	c.917G>A	p.R306H	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
3162	Philippe C, ... Pubmed: 16473305	c.917G>A	p.R306H	missense	TRD	Rett syndrome - not certain	Mutation associated with disease	F
4512	Das, ...	c.917G>A	p.R306H	missense	TRD	Not known	Mutation associated with disease	F
7030	Huong Le Thi Thanh , ... Pubmed: 30081849	c.917G > A		missense	TRD	Rett syndrome - classical	Mutation associated with disease	F
3909	Campos, ... Pubmed: 17084570	c.925C>T	p.R309W	missense	TRD	Not Rett synd. - mental retardation	Unknown	M
4618	Piton, ... Pubmed: 20479760	c.925C>T	p.R309W	missense	TRD	Not Rett synd. - autism spectrum disorder	Unknown	F
4748	Hadzsiev, ... Pubmed: 21160487	c.925C>T	p.R309W	missense	TRD	Not Rett synd. - psychomotor delay and absence of speech	Unknown	M
5132	Maortua, ... Pubmed: 23810759	c.925C>T	p.R309W	missense	TRD	Not Rett synd. - intellectual disability	Unknown	F
5325	Directly submitted	c.925C>T	p.R309W	missense	TRD	Rett syndrome - atypical	Unknown	F
1858	Bunyan, ...	c.932C>T	p.T311M	Missense	C-term	Rett syndrome - Not certain	Unknown	F
2817	Kim, ... Pubmed: 16672765	c.932C>T	p.T311M	missense	C-term	Rett syndrome - classical	Unknown	F
4888	Zvereff, ... Pubmed: 22277191	c.932C>T	p.T311M	missense	C-term	Not Rett synd. - nonspecific mental retardation	Unknown	F
4889	Zvereff, ... Pubmed: 22277191	c.932C>T	p.T311M	missense	C-term	Not Rett synd. - unaffected family member	Unknown	F
3027	Yntema HG, ... Pubmed: 12111644	c.942C>T	p.I314I	silent	C-term	Not Rett synd. - mental retardation	Silent polymorphism	M
4617	Piton, ... Pubmed: 20479760	c.942C>T	p.I314I	silent	C-term	Not Rett synd. - schizophrenia	Silent polymorphism	U
4513	Das, ...	c.943_1140del198ins6	p.E315_V380delins2	in-frame combined insertion and deletion	C-term	Not known	Mutation associated with disease	F
2131	Cardiff, ...	c.948C>G	p.V316V	Silent	C-term	Not known	Silent polymorphism	F
2773	Donzel-Javouhey, ... Pubmed: 16763963	c.948C>G	p.V316V	silent	C-term	Not Rett synd. - mental retardation	Silent polymorphism	F
3997	Coutinho, ... Pubmed: 17427193	c.948C>G	p.V316V	silent	C-term	Not Rett synd. - non-Rett syndrome control	Silent polymorphism	U
1707	Friez, ...	c.953A>C	p.E318A	Missense	C-term	Rett syndrome - classical	Unknown	F
1945	Schanen, ... Pubmed: 15057977	c.953A>C	p.E318A	Missense	C-term	Rett syndrome - atypical	Unknown	F
6616	Directly submitted	c.961A>G	p.K321E	missense	C-term	Rett syndrome - classical	Unknown	F
5133	Maortua, ... Pubmed: 23810759	c.962_1267delinsG	p.K321Sfs*13	frameshift combined insertion and deletion	C-term	Not Rett synd. - Rett-like	Mutation associated with disease	F
1403	Nicolao, ... Pubmed: 11462237	c.964C>G	p.P322A	Missense	C-term	Rett syndrome - Classical	Unknown	F
2177	Cardiff, ...	c.964C>G	p.P322A	Missense	C-term	Rett syndrome - Not certain	Unknown	F
2529	P. Ventura, ... Pubmed: 16966553	c.964C>T	p.P322S	Missense	C-term	Not Rett synd. - Sporadic mental retardation	Unknown	M
2530	P. Ventura, ... Pubmed: 16966553	c.964C>T	p.P322S	Missense	C-term	Not Rett synd. - Borderline low IQ	Unknown	F
2948	Kammoun, ... Pubmed: 15173251	c.964C>G	p.P322A	missense	C-term	Rett syndrome - classical	Unknown	F
3163	Philippe C, ... Pubmed: 16473305	c.964C>G	p.P322A	missense	C-term	Rett syndrome - not certain	Unknown	F
3164	Philippe C, ... Pubmed: 16473305	c.964C>G	p.P322A	missense	C-term	Rett syndrome - not certain	Unknown	F
3807	Wong, ... Pubmed: 18174559	c.964C>G	p.P322A	missense	C-term	Rett syndrome - classical	Unknown	F
4817	Corbani, ... Pubmed: 21954873	c.964C>G	p.P322A	missense	C-term	Rett syndrome - classical	Unknown	F
79	Hoffbuhr, ... Pubmed: 11402105	c.965C>T	p.P322L	Missense	C-term	Rett syndrome - Not certain	Unknown	F
2178	Cardiff, ...	c.965C>T	p.P322L	Missense	C-term	Rett syndrome - Classical	Unknown	F
2424	Directly submitted	c.965C>T	p.P322L	Missense	C-term	Rett syndrome - Classical	Unknown	F
2818	Kim, ... Pubmed: 16672765	c.965C>T	p.P322L	missense	C-term	Rett syndrome - classical	Unknown	F
3165	Philippe C, ... Pubmed: 16473305	c.965C>T	p.P322L	missense	C-term	Rett syndrome - not certain	Unknown	F
3564	Li, ... Pubmed: 17089071	c.965C>T	p.P322L	missense	C-term	Rett syndrome - not certain	Unknown	F
4287	de Lima, ... Pubmed: 19722030	c.965C>T	p.P322L	missense	C-term	Rett syndrome - Classical	Unknown	F
6349	Directly submitted	c.965C>T	p.P322L	missense	C-term	Rett syndrome - classical	Unknown	F
6348	Directly submitted	c.965C>T	p.P322L	missense	C-term	Rett syndrome - classical	Unknown	F
3166	Philippe C, ... Pubmed: 16473305	c.982C>G	p.L328V	missense	C-term	Rett syndrome - not certain	Unknown	F
351	De Bona, ... Pubmed: 10854091	c.984C>T	p.L328L	Silent	C-term	Rett syndrome - Classical	Silent polymorphism	F
474	Directly submitted	c.984C>T	p.L328L	Silent	C-term	Not Rett synd. - Unaffected family member	Silent polymorphism	F
1128	Buyse, ... Pubmed: 11055898	c.984C>T	p.L328L	Silent	C-term	Rett syndrome - Not certain	Silent polymorphism	F
3911	Khajuria, ...	c.984C>A	p.L328L	silent	C-term	Not known	Silent polymorphism	M
4863	Psoni, ... Pubmed: 21982064	c.984C>T	p.L328L	silent	C-term	Rett syndrome - atypical	Silent polymorphism	F
5206	Maortua, ... Pubmed: 23810759	c.984C>A	p.L328L	silent	C-term	Not Rett synd. - normal control	Silent polymorphism	U
5207	Maortua, ... Pubmed: 23810759	c.984C>T	p.L328L	silent	C-term	Not Rett synd. - normal control	Silent polymorphism	U
5208	Maortua, ... Pubmed: 23810759	c.984C>T	p.L328L	silent	C-term	Not Rett synd. - normal control	Silent polymorphism	U
4615	Piton, ... Pubmed: 20479760	c.985G>A	p.G329S	missense	C-term	Not Rett synd. - schizophrenia	Polymorphism not causing disease	M
4616	Piton, ... Pubmed: 20479760	c.985G>A	p.G329S	missense	C-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
1203	Bienvenu, ... Pubmed: 11524737	c.989_994delinsGCATCTTCTCCTCTTT	p.E330fs	Frameshift combined insertion and deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	U
4593	Rajaei, ... Pubmed: 21212452	c.992A>G	p.K331R	missense	C-term	Rett syndrome - congenital	Polymorphism not causing disease	F
4594	Rajaei, ... Pubmed: 21212452	c.992A>G	p.K331R	missense	C-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
2335	Cardiff, ...	c.994_1346del353	p.S332fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
2336	Cardiff, ...	c.994_998delAGCGG	p.S332fs	Frameshift insertion or deletion	C-term	Rett syndrome - Atypical	Mutation associated with disease	F
4614	Piton, ... Pubmed: 20479760	c.996C>T	p.S332S	silent	C-term	Not Rett synd. - autism spectrum disorder	Silent polymorphism	U
4804	Fendri-Kriaa, ... Pubmed: 21940684	c.996C>T	p.S332S	silent	C-term	Rett syndrome - atypical	Silent polymorphism	F
6862	Daniela�Zahorakova, ... Pubmed: 26984561	c.996C>T	p.S332S	silent	C-term	Not Rett synd. - mental retardation	Silent polymorphism	F
4755	Hadzsiev, ... Pubmed: 21160487	c.999G>T	p.G333G	silent	C-term	Rett syndrome - not certain	Silent polymorphism	F
7042	Beskorovainaya, ...	c.1004_1173delinsCTGTGTAA		frameshift combined insertion and deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
3284	Philippe C, ... Pubmed: 16473305	c.1009_1027del19	p.K337fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
36	Hoffbuhr, ... Pubmed: 11402105	c.1012_1202del191	p.T338fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
1907	Directly submitted	c.1012_1193del182	p.T338fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
3565	Li, ... Pubmed: 17089071	c.1015T>C	p.C339R	missense	C-term	Rett syndrome - not certain	Unknown	F
3780	Archer HL, ... Pubmed: 16183801	c.1017-?_1397+?del	p.?	exonic deletions	C-term	Rett syndrome - atypical	Mutation associated with disease	F
2533	Kirstine Ravn, ... Pubmed: 15712379	c.1023_*14472del14911	p.S341fs	In-frame insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
4890	Zvereff, ... Pubmed: 22277191	c.1028_1158del	p.G343AfsX6	frameshift insertion or deletion	C-term	Rett syndrome - atypical	Mutation associated with disease	F
1366	Laccone, ... Pubmed: 11241840	c.1030_1195del166insGT	p.R344fs	frameshift combined insertion and deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	U
1532	Laccone, ... Pubmed: 12161600	c.1030C>T	p.R344W	Missense	C-term	Rett syndrome - Not certain	Unknown	M
1533	Laccone, ... Pubmed: 12161600	c.1030C>T	p.R344W	Missense	C-term	Not Rett synd. - Unaffected family member	Unknown	F
4803	Fendri-Kriaa, ... Pubmed: 21940684	c.1030C>G	p.R344G	missense	C-term	Rett syndrome - classical	Unknown	F
4891	Zvereff, ... Pubmed: 22277191	c.1030C>T	p.R344W	missense	C-term	Rett syndrome - atypical	Unknown	F
17	Bunyan, ...	c.1035A>G	p.K345K	Silent	C-term	Rett syndrome - Not certain	Silent polymorphism	F
1021	Couvert, ... Pubmed: 11309367	c.1035A>G	p.K345K	Silent	C-term	Not Rett synd. - X-linked mental retardation	Silent polymorphism	M
1635	Bunyan, ...	c.1035A>G	p.K345K	Silent	C-term	Rett syndrome - Not certain	Silent polymorphism	F
1808	Friez, ...	c.1035A>G	p.K345K	Silent	C-term	Not known	Silent polymorphism	M
2158	Cardiff, ...	c.1035A>G	p.K345K	Silent	C-term	Not known	Silent polymorphism	F
2159	Cardiff, ...	c.1035A>G	p.K345K	Silent	C-term	Not Rett synd. - Unaffected family member	Silent polymorphism	M
2377	Akane Shibayama, ... Pubmed: 15211631	c.1035A>G	p.K345K	Silent	C-term	Not Rett synd. - Schizophrenia	Silent polymorphism	F
2378	Akane Shibayama, ... Pubmed: 15211631	c.1035A>G	p.K345K	Silent	C-term	Not Rett synd. - Schizophrenia	Silent polymorphism	M
2655	Lesca, ... Pubmed: 17383248	c.1035A>G	p.K345K	silent	C-term	Not Rett synd. - sporadic mental retardation	Silent polymorphism	U
4626	Piton, ... Pubmed: 20479760	c.1035A>G	p.K345K	silent	C-term	Not Rett synd. - normal control	Silent polymorphism	U
5209	Maortua, ... Pubmed: 23810759	c.1035A>G	p.K345K	silent	C-term	Not Rett synd. - normal control	Silent polymorphism	U
5210	Maortua, ... Pubmed: 23810759	c.1035A>G	p.K345K	silent	C-term	Not Rett synd. - normal control	Silent polymorphism	U
6863	Daniela�Zahorakova, ... Pubmed: 26984561	c.1035A>G	p.K345K	silent	C-term	Not Rett synd. - mental retardation	Silent polymorphism	F
939	Bienvenu, ... Pubmed: 10814719	c.1038C>G	p.S346R	Missense	C-term	Rett syndrome - Classical	Mutation associated with disease	F
287	Trappe, ... Pubmed: 11309679	c.1039_1195del157insGT	p.K347fs	Frameshift combined insertion and deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
1745	Friez, ...	c.1041_*29del450	p.K347_S486delins17	In-frame insertion or deletion	C-term	Not known	Mutation associated with disease	F
1381	Lam, ... Pubmed: 11106359	c.1043_1173del131insTG	p.E348_P391delinsV	In-frame combined insertion and deletion	C-term	Rett syndrome - Not certain	Unknown	F
5138	Maortua, ... Pubmed: 23810759	c.1044-?_1442+?del	p.?	exonic deletions	C-term	Rett syndrome - atypical	Mutation associated with disease	F
5139	Maortua, ... Pubmed: 23810759	c.1044-?_1442+?del	p.?	exonic deletions	C-term	Rett syndrome - atypical	Mutation associated with disease	F
3285	Philippe C, ... Pubmed: 16473305	c.1046_1206del161	p.S349fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3521	Bienvenu T, ... Pubmed: 12180070	c.1048_1095del48	p.S350_E365del	in-frame insertion or deletion	C-term	Rett syndrome - not certain	Unknown	F
3621	Li, ... Pubmed: 17089071	c.1048_1199del152	p.S350fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
2179	Cardiff, ...	c.1052_1200del149	p.P351fs	Frameshift insertion or deletion	C-term	Rett syndrome - Atypical	Mutation associated with disease	F
5080	Wang, ... Pubmed: 23591336	c.1053C>G	p.P351P	silent	C-term	Not Rett synd. - autism	Silent polymorphism	M
6672	Directly submitted	c.1053_1156del104	p.K352fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
2949	Kammoun, ... Pubmed: 15173251	c.1057_1219del163	p.G353fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
3507	Bienvenu T, ... Pubmed: 12180070	c.1057_1219del163	p.G353fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
1196	Armstrong, ... Pubmed: 12065946	c.1061_1156del96	p.R352_P385del	In-frame insertion or deletion	C-term	Rett syndrome - Classical	Unknown	F
2003	Konrad Oexle, ...	c.1061G>T	p.R354L	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	M
2207	Cardiff, ...	c.1061G>A	p.R354H	Missense	C-term	Not Rett synd. - Unaffected family member	Unknown	F
24	Bunyan, ...	c.1065C>T	p.S355S	Silent	C-term	Rett syndrome - Not certain	Silent polymorphism	F
4802	Fendri-Kriaa, ... Pubmed: 21940684	c.1065C>A	p.S355R	missense	C-term	Rett syndrome - classical	Unknown	F
2622	Zahorakova, ... Pubmed: 17387578	c.1069_1071delAGC	p.S357del	in-frame insertion or deletion	c-term	Rett syndrome - Classical	Mutation associated with disease	F
211	Orrico, ... Pubmed: 11007980	c.1071C>T	p.S357S	Silent	C-term	Not Rett synd. - Sporadic mental retardation	Silent polymorphism	F
1627	Bunyan, ...	c.1071C>T	p.S357S	Silent	C-term	Rett syndrome - Not certain	Silent polymorphism	F
3566	Li, ... Pubmed: 17089071	c.1072G>A	p.A358T	missense	C-term	Rett syndrome - not certain	Polymorphism not causing disease	F
3810	Wong, ... Pubmed: 18174559	c.1072G>A	p.A358T	missense	C-term	Not Rett synd. - epileptic encephalopathy	Polymorphism not causing disease	M
3989	Li, ... Pubmed: 17089071	c.1072G>A	p.A358T	missense	C-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
4892	Zvereff, ... Pubmed: 22277191	c.1072G>A	p.A358T	missense	C-term	Not Rett synd. - nonspecific mental retardation	Polymorphism not causing disease	F
4893	Zvereff, ... Pubmed: 22277191	c.1072G>A	p.A358T	missense	C-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
1388	Moncla, ... Pubmed: 11896461	c.1075T>C	p.S359P	Missense	C-term	Rett syndrome - Male variant	Polymorphism not causing disease	M
1389	Moncla, ... Pubmed: 11896461	c.1075T>C	p.S359P	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
1390	Moncla, ... Pubmed: 11896461	c.1075T>C	p.S359P	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
1391	Moncla, ... Pubmed: 11896461	c.1075T>C	p.S359P	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
1392	Moncla, ... Pubmed: 11896461	c.1075T>C	p.S359P	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
1393	Moncla, ... Pubmed: 11896461	c.1075T>C	p.S359P	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	M
3517	Bienvenu T, ... Pubmed: 12180070	c.1075T>C	p.S359P	missense	C-term	Rett syndrome - not certain	Polymorphism not causing disease	F
3286	Philippe C, ... Pubmed: 16473305	c.1078_*2524del2908	p.S360fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
1107	Buyse, ... Pubmed: 11055898	c.1079C>A	p.S360X	Nonsense	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
2154	Cardiff, ...	c.1081C>G	p.P361A	Missense	C-term	Not known	Unknown	F
2155	Cardiff, ...	c.1081C>G	p.P361A	Missense	C-term	Not Rett synd. - Unaffected family member	Unknown	F
2156	Cardiff, ...	c.1081C>G	p.P361A	Missense	C-term	Not known	Unknown	M
2157	Cardiff, ...	c.1081C>G	p.P361A	Missense	C-term	Not Rett synd. - Unaffected family member	Unknown	F
6671	Directly submitted	c.1085_1197del113	p.P362fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
1717	Friez, ...	c.1087A>T	p.K363X	Nonsense	C-term	Not known	Mutation associated with disease	F
2106	Cardiff, ...	c.1087A>T	p.K363X	Nonsense	C-term	Rett syndrome - Classical	Mutation associated with disease	F
4818	Corbani, ... Pubmed: 21954873	c.1093_1095delGAG	p.E365del	in-frame insertion or deletion	C-term	Rett syndrome - classical	Unknown	F
1368	Laccone, ... Pubmed: 11241840	c.1096_1201del106	p.H366fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	U
1367	Laccone, ... Pubmed: 11241840	c.1097_*13del378	p.H366_S486delins22	In-frame insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	U
2098	Cardiff, ...	c.1097_1203del107	p.H366fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
1255	Huppke, ... Pubmed: 12075485	c.1099_1118del20	p.H367fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
853	Xiang, ... Pubmed: 10745042	c.1101_1201del101	p.H367fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	U
2645	Zahorakova, ... Pubmed: 17387578	c.1101_1396+?del (deletion of exon 4 near stop codon)	p.H367fs	frameshift insertion or deletion	c-term	Rett syndrome - Classical	Mutation associated with disease	F
5063	Das, ... Pubmed: 23262346	c.1101_1201del101	p.H367fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
23	Bunyan, ...	c.1104_1106del3	p.H372del	In-frame insertion or deletion	C-term	Rett syndrome - Not certain	Unknown	F
1695	Friez, ...	c.1105delC	p.H369fs	Frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
3287	Philippe C, ... Pubmed: 16473305	c.1105_1225del121	p.H369fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
6670	Directly submitted	c.1105delC	p.H369fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
6575	Directly submitted	c.1114C>T	p.H372Y	missense	C-term	Not known	Unknown	F
1777	Friez, ...	c.1115_1201del87	p.H372_S401delinsR	In-frame insertion or deletion	C-term	Not known	Unknown	F
3748	Fukuda, ... Pubmed: 15737703	c.1115_1326del212	p.H372fs	frameshift insertion or deletion	C-term	Rett syndrome - atypical	Mutation associated with disease	F
1477	Vacca, ... Pubmed: 11269512	c.1116_1201del86	p.H372fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
2099	Cardiff, ...	c.1116_1201del86	p.H372fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
2623	Zahorakova, ... Pubmed: 17387578	c.1116_1201del86	p.H372fs	frameshift insertion or deletion	c-term	Rett syndrome - Classical	Mutation associated with disease	F
4852	Psoni, ... Pubmed: 21982064	c.1117_1203del87	p.S373_S401del	in-frame insertion or deletion	C-term	Rett syndrome - atypical	Unknown	F
4410	Das, ...	c.1118C>G	p.S373X	nonsense	C-term	Not known	Mutation associated with disease	F
1256	Huppke, ... Pubmed: 12075485	c.1121_1191del71	p.E374fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
854	Xiang, ... Pubmed: 10745042	c.1123_1191del69	p.S375_E397del	In-frame insertion or deletion	C-term	Rett syndrome - Not certain	Unknown	U
1863	Bunyan, ...	c.1123_1202del80	p.S375fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
152	Amano, ... Pubmed: 10944854	c.1126C>T	p.P376S	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	M
153	Amano, ... Pubmed: 10944854	c.1126C>T	p.P376S	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
1538	Laccone, ... Pubmed: 12161600	c.1126C>T	p.P376S	Missense	C-term	Rett syndrome - Not certain	Polymorphism not causing disease	F
1539	Laccone, ... Pubmed: 12161600	c.1126C>T	p.P376S	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	M
1570	Beyer, ... Pubmed: 12384770	c.1126C>T	p.P376S	Missense	C-term	Not Rett synd. - autism only	Polymorphism not causing disease	M
1655	Directly submitted	c.1126C>T	p.P376S	Missense	C-term	Rett syndrome - Not certain	Polymorphism not causing disease	F
1724	Friez, ...	c.1126C>T	p.P376S	Missense	C-term	Not known	Polymorphism not causing disease	F
1757	Friez, ...	c.1126C>T	p.P376S	Missense	C-term	Not known	Polymorphism not causing disease	F
1908	Directly submitted	c.1126C>T	p.P376S	Missense	C-term	Not Rett synd. - Sporadic mental retardation	Polymorphism not causing disease	M
2126	Cardiff, ...	c.1126C>T	p.P376S	Missense	C-term	Not known	Polymorphism not causing disease	F
2153	Cardiff, ...	c.1126C>T	p.P376S	Missense	C-term	Not Rett synd. - not certain	Polymorphism not causing disease	M
2493	Tjitske Kleefstra, ... Pubmed: 14560307	c.1126C>T	p.P376S	Missense	C-term	Not Rett synd. - Sporadic mental retardation	Polymorphism not causing disease	F
2495	Tjitske Kleefstra, ... Pubmed: 14560307	c.1126C>T	p.P376S	Missense	C-term	Not Rett synd. - Angelman syndrome	Polymorphism not causing disease	F
2858	Conforti, ... Pubmed: 12567420	c.1126C>T	p.P376S	missense	C-term	Rett syndrome - classical	Polymorphism not causing disease	F
4045	Conforti, ... Pubmed: 12567420	c.1126C>T	p.P376S	missense	C-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
4072	Lee SSJ, ... Pubmed: 11738860	c.1126C>T	p.P376S	missense	C-term	Rett syndrome - not certain	Polymorphism not causing disease	F
4073	Lee SSJ, ... Pubmed: 11738860	c.1126C>T	p.P376S	missense	C-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
1205	Bienvenu, ... Pubmed: 11524737	c.1127_1179del53	p.P376fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
1527	Yamada, ... Pubmed: 11524741	c.1127_1179del53	p.P376fs	Frameshift insertion or deletion	C-term	Rett syndrome - atypical	Mutation associated with disease	U
2369	Akane Shibayama, ... Pubmed: 15211631	c.1127C>G	p.P376R	Missense	C-term	Not Rett synd. - autism only	Unknown	F
3289	Philippe C, ... Pubmed: 16473305	c.1127_1137del11	p.P376fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3290	Philippe C, ... Pubmed: 16473305	c.1127_1137del11	p.P376fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3520	Bienvenu T, ... Pubmed: 12180070	c.1127_1179del53	p.P376fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3608	Li, ... Pubmed: 17089071	c.1127_1179del53	p.P376fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
4106	Milunsky, ... Pubmed: 11960578	c.1128_1179del52	p.K377fs	frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
1736	Friez, ...	c.1129_1193del65	p.K377fs	Frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
3291	Philippe C, ... Pubmed: 16473305	c.1129_*568delinsCCGTGG	p.K377fs	frameshift combined insertion and deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
1369	Laccone, ... Pubmed: 11241840	c.1132_1202del71	p.A378fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	U
3761	Fukuda, ... Pubmed: 15737703	c.1132_1202del71	p.A378fs	frameshift insertion or deletion	C-term	Rett syndrome - atypical	Mutation associated with disease	F
6581	Directly submitted	c.1132G>T	p.A378S	missense	C-term	Not Rett synd. - unaffected family member	Unknown	F
6580	Directly submitted	c.1132G>T	p.A378S	missense	C-term	Not Rett synd. - developmental delay	Unknown	M
7029	Huong Le Thi Thanh , ... Pubmed: 30081849	c.1132_1207del77		frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
3167	Philippe C, ... Pubmed: 16473305	c.1133C>T	p.A378V	missense	C-term	Rett syndrome - not certain	Polymorphism not causing disease	F
3945	Fukuda, ... Pubmed: 15737703	c.1133C>T	p.A378V	missense	C-term	Rett syndrome - NK	Polymorphism not causing disease	F
3946	Fukuda, ... Pubmed: 15737703	c.1133C>T	p.A378V	missense	C-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
3947	Fukuda, ... Pubmed: 15737703	c.1133C>T	p.A378V	missense	C-term	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
3948	Fukuda, ... Pubmed: 15737703	c.1133C>T	p.A378V	missense	C-term	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4099	Milunsky, ... Pubmed: 11960578	c.1133C>G	p.A378G	missense	C-term	Rett syndrome - classical	Unknown	F
6864	Daniela�Zahorakova, ... Pubmed: 26984561	c.1133C>G	p.A378G	Missense	C-term	Not Rett synd. - mental retardation	Polymorphism not causing disease	F
2000	Konrad Oexle, ... Pubmed: 15558314	c.1135_1142delCCCGTGCC	p.P379fs	Frameshift insertion or deletion	C-term	Not Rett synd. - Sporadic mental retardation	Mutation associated with disease	F
6669	Directly submitted	c.1135_1142del8	p.P379fs	frameshift insertion or deletion	C-term	Not Rett synd. - mental retardation	Mutation associated with disease	F
6668	Directly submitted	c.1135_1142del8	p.P379fs	frameshift insertion or deletion	C-term	Not Rett synd. - mental retardation	Mutation associated with disease	F
1572	Beyer, ... Pubmed: 12384770	c.1137C>T	p.P379P	Silent	C-term	Not Rett synd. - autism only	Silent polymorphism	F
4092	Parmeggiani, ... Pubmed: 19189931	c.1138G>A	p.V380M	missense	C-term	Not Rett synd. - mental retardation	Unknown	F
3012	Pan, ... Pubmed: 12111643	c.1141C>G	p.P381A	missense	C-term	Rett syndrome - classical	Polymorphism not causing disease	F
4050	Pan, ... Pubmed: 12111643	c.1141C>G	p.P381A	missense	C-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
6615	Directly submitted	c.1141C>T	p.P381S	missense	C-term	Rett syndrome - preserved speech	Unknown	F
4219	Psoni, ... Pubmed: 20098342	c.1142_1227del86	p.P381fs	frameshift insertion or deletion	C-term	Rett syndrome - male variant	Mutation associated with disease	M
4220	Psoni, ... Pubmed: 20098342	c.1142_1227del86	p.P381fs	frameshift insertion or deletion	C-term	Rett syndrome - male variant	Mutation associated with disease	M
4221	Psoni, ... Pubmed: 20098342	c.1142_1227del86	p.P381fs	frameshift insertion or deletion	C-term	Not Rett synd. - unaffected family member	Mutation associated with disease	F
914	Directly submitted	c.1145_1194del50	p.L382fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	U
3358	Nielsen JB, ... Pubmed: 11313756	c.1145_1194del50	p.L382fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
6639	Directly submitted	c.1147_1174del28	p.L383fs	frameshift insertion or deletion	C-term	Not Rett synd. - mental retardation	Mutation associated with disease	F
7026	Huong Le Thi Thanh , ... Pubmed: 30081849	c.1148_1193del		frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
257	Bourdon, ... Pubmed: 11214906	c.1150_1192del43	p.P384fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	U
915	Directly submitted	c.1151_1188del38	p.P384fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	U
2886	Smeets, ... Pubmed: 12966523	c.1151_1191del41	p.P384fs	frameshift insertion or deletion	C-term	Rett syndrome - preserved speech	Mutation associated with disease	F
3607	Li, ... Pubmed: 17089071	c.1151_1183del33	p.P384_S395delinsR	in-frame insertion or deletion	C-term	Rett syndrome - not certain	Unknown	F
3870	Khajuria, ... Pubmed: 19371229	c.1151_1188del38	p.P384fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
4894	Zvereff, ... Pubmed: 22277191	c.1151C>T	p.P384L	missense	C-term	Not Rett synd. - nonspecific mental retardation	Unknown	F
4895	Zvereff, ... Pubmed: 22277191	c.1151C>T	p.P384L	missense	C-term	Not Rett synd.	Unknown	F
4896	Zvereff, ... Pubmed: 22277191	c.1151C>T	p.P384L	missense	C-term	Not Rett synd. - nonspecific mental retardation	Unknown	F
1456	Vacca, ... Pubmed: 11269512	c.1152_1195del44	p.P385fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
2181	Cardiff, ...	c.1152_1195del44	p.P385fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
2182	Cardiff, ...	c.1152_1155del4	p.P385fs	Frameshift insertion or deletion	C-term	Rett syndrome - Atypical	Mutation associated with disease	F
3609	Li, ... Pubmed: 17089071	c.1152_1195del44	p.P385fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
4411	Das, ...	c.1152_1195del44	p.P385fs	frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
5071	Das, ... Pubmed: 23262346	c.1152_*29del	p.P385_S486delinsNKNKGSCCLFSLWVGL	in-frame insertion or deletion	C-term	Rett syndrome - atypical	Mutation associated with disease	F
6657	Directly submitted	c.1152_1292del141	p.P385_K431del	in-frame insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
18	Bunyan, ...	c.1153_1190del38	p.P385fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
4916	Kim, ... Pubmed: 22476991	c.1153_1188del36	p.P385_S396del	in-frame insertion or deletion	C-term	Rett syndrome - not certain	Unknown	F
7039	Tsutomu Shioda , ... Pubmed: 29631775	c.1153_1190del		frameshift combined insertion and deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
38	Hoffbuhr, ... Pubmed: 11402105	c.1154_1185del32	p.P385fs	Frameshift insertion or deletion	C-term	Rett syndrome - Male variant	Mutation associated with disease	M
916	Directly submitted	c.1154_1197del44	p.P385fs	Frameshift insertion or deletion	C-term	Rett syndrome - Forme fruste	Mutation associated with disease	U
2180	Cardiff, ...	c.1154_1197del44	p.P385fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
2829	Kim, ... Pubmed: 16672765	c.1154_1197del44	p.P385fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
2950	Kammoun, ... Pubmed: 15173251	c.1154_1197del44	p.P385fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
3009	Pan, ... Pubmed: 12111643	c.1154_1197del44	p.P385fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
3508	Bienvenu T, ... Pubmed: 12180070	c.1154_1197del44	p.P385fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
429	Directly submitted	c.1155_1200del46	p.L386fs	Frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
2021	Directly submitted	c.1155_1200del46	p.L386fs	Frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
3293	Philippe C, ... Pubmed: 16473305	c.1155_1200del46	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3294	Philippe C, ... Pubmed: 16473305	c.1155_1183del29	p.P387fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
5059	Das, ... Pubmed: 23262346	c.1155_1166del12	p.L386_P389del	in-frame insertion or deletion	C-term	Rett syndrome - atypical	Unknown	F
286	Trappe, ... Pubmed: 11309679	c.1156_1200del45	p.L386_T400del	In-frame insertion or deletion	C-term	Rett syndrome - Not certain	Unknown	F
936	Bienvenu, ... Pubmed: 10814719	c.1156_1172del17	p.L386X	frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
3296	Philippe C, ... Pubmed: 16473305	c.1156_1172del17	p.L386X	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3298	Philippe C, ... Pubmed: 16473305	c.1156_1197del42	p.L386_P399del	in-frame insertion or deletion	C-term	Rett syndrome - not certain	Unknown	F
3299	Philippe C, ... Pubmed: 16473305	c.1156_1197del42	p.L386_P399del	in-frame insertion or deletion	C-term	Rett syndrome - not certain	Unknown	F
3300	Philippe C, ... Pubmed: 16473305	c.1156_1197del42	p.L386_P399del	in-frame insertion or deletion	C-term	Rett syndrome - not certain	Unknown	F
3302	Philippe C, ... Pubmed: 16473305	c.1156_1157dupCT	p.P387fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
39	Hoffbuhr, ... Pubmed: 11402105	c.1157_1197del41	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
125	Huppke, ... Pubmed: 10814718	c.1157_1200del44	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
258	Bourdon, ... Pubmed: 11214906	c.1157_1187del31	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	U
347	De Bona, ... Pubmed: 10854091	c.1157_1197del41	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Preserved speech	Mutation associated with disease	F
391	Directly submitted	c.1157_1200del44	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
448	Directly submitted	c.1157_1200del44	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
482	Directly submitted	c.1157_1197del41	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
917	Directly submitted	c.1157_1200del44	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	U
1151	Watson, ... Pubmed: 11283202	c.1157_1200del44	p.L386fs	Frameshift insertion or deletion	C-term	Not Rett synd. - Angelman syndrome	Mutation associated with disease	F
1180	Zappella, ... Pubmed: 11746022	c.1157_1197del41	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Preserved speech	Mutation associated with disease	F
1181	Zappella, ... Pubmed: 11746022	c.1157_1188del32	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Preserved speech	Mutation associated with disease	F
1206	Chae, ... Pubmed: 11913567	c.1157_1197del41	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
1257	Huppke, ... Pubmed: 12075485	c.1157_1188del32	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
1363	Laccone, ... Pubmed: 11241840	c.1157_1197del41	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	U
1364	Laccone, ... Pubmed: 11241840	c.1157_1197del41	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	U
1365	Laccone, ... Pubmed: 11241840	c.1157_1197del41	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	U
1379	Lam, ... Pubmed: 11106359	c.1157_1197del41	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
1428	Nicolao, ... Pubmed: 11462237	c.1157_1197del41	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
1455	Vacca, ... Pubmed: 11269512	c.1157_1197del41	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
1457	Vacca, ... Pubmed: 11269512	c.1157_1200del44	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
1545	Zappella, ... Pubmed: 11746022	c.1157_1188del32	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
1546	Zappella, ... Pubmed: 11746022	c.1157_1188del32	p.L386fs	Frameshift insertion or deletion	C-term	Not Rett synd. - Unaffected family member	Mutation associated with disease	F
1606	Bunyan, ...	c.1157_1197del41	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
1698	Friez, ...	c.1157_1200del44	p.L386fs	Frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
1741	Friez, ...	c.1157_1197del41	p.L386fs	Frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
1742	Friez, ...	c.1157_1191del35	p.L386fs	Frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
1751	Friez, ...	c.1157_1192del36	p.L386_D398delinsH	In-frame insertion or deletion	C-term	Not known	Unknown	F
1754	Friez, ...	c.1157_1191del35	p.L386fs	Frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
1768	Friez, ...	c.1157_1197del41	p.L386fs	Frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
1776	Friez, ...	c.1157_1191del35	p.L386fs	Frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
1780	Friez, ...	c.1157_1191del35	p.L386fs	Frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
1814	Friez, ...	c.1157_1191del35	p.L386fs	Frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
1834	Bunyan, ...	c.1157_1197del41	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
2008	Directly submitted	c.1157_1200del44	p.L386fs	Frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
2014	Directly submitted	c.1157_1197del41	p.L386fs	Frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
2107	Cardiff, ...	c.1157_1200del44	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Atypical	Mutation associated with disease	F
2108	Cardiff, ...	c.1157_1200del44	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
2109	Cardiff, ...	c.1157_1200del44	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Atypical	Mutation associated with disease	F
2110	Cardiff, ...	c.1157_1200del44	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
2111	Cardiff, ...	c.1157_1200del44	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Atypical	Mutation associated with disease	F
2112	Cardiff, ...	c.1157_1200del44	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Atypical	Mutation associated with disease	F
2113	Cardiff, ...	c.1157_1197del41	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
2114	Cardiff, ...	c.1157_1197del41	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
2115	Cardiff, ...	c.1157_1188del32	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
2116	Cardiff, ...	c.1157_1188del32	p.L386fs	Frameshift insertion or deletion	C-term	Rett syndrome - Atypical	Mutation associated with disease	F
2624	Zahorakova, ... Pubmed: 17387578	c.1157_1197del41	p.L386fs	frameshift insertion or deletion	c-term	Rett syndrome - Classical	Mutation associated with disease	F
2625	Zahorakova, ... Pubmed: 17387578	c.1157_1200del44	p.L386fs	frameshift insertion or deletion	c-term	Rett syndrome - Classical	Mutation associated with disease	F
2770	Donzel-Javouhey, ... Pubmed: 16763963	c.1157_1197del41	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
2862	Conforti, ... Pubmed: 12567420	c.1157_1197del41	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - preserved speech	Mutation associated with disease	F
2863	Conforti, ... Pubmed: 12567420	c.1157_1200del44	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - preserved speech	Mutation associated with disease	F
2910	Carney, ... Pubmed: 12770674	c.1157_1197del41	p.L386fs	frameshift insertion or deletion	C-term	Not Rett synd. - autism only	Mutation associated with disease	F
2971	Kammoun, ... Pubmed: 15173251	c.1157_1197del41	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - atypical	Mutation associated with disease	F
2972	Kammoun, ... Pubmed: 15173251	c.1157_1197del41	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - atypical	Mutation associated with disease	F
2973	Kammoun, ... Pubmed: 15173251	c.1157_1188del32	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - atypical	Mutation associated with disease	F
3046	Yaron Y, ... Pubmed: 12325033	c.1157_1197del41	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
3047	Yaron Y, ... Pubmed: 12325033	c.1157_1197del41	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
3063	Giunti L, ... Pubmed: 11738883	c.1157_1197del41	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3064	Giunti L, ... Pubmed: 11738883	c.1157_1200del44	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3292	Philippe C, ... Pubmed: 16473305	c.1157_1197del41	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3297	Philippe C, ... Pubmed: 16473305	c.1157_1188del32	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3301	Philippe C, ... Pubmed: 16473305	c.1157_1199del43	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3304	Philippe C, ... Pubmed: 16473305	c.1157_1188del32	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3305	Philippe C, ... Pubmed: 16473305	c.1157_1197del41	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3306	Philippe C, ... Pubmed: 16473305	c.1157_1197del41	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3307	Philippe C, ... Pubmed: 16473305	c.1157_1200del44	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3308	Philippe C, ... Pubmed: 16473305	c.1157_1200del44	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3309	Philippe C, ... Pubmed: 16473305	c.1157_*944del1249	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3357	Lee SSJ, ... Pubmed: 11738860	c.1157_1188del32	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3359	Nielsen JB, ... Pubmed: 11313756	c.1157_1200del44	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
3509	Bienvenu T, ... Pubmed: 12180070	c.1157_1188del32	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3510	Bienvenu T, ... Pubmed: 12180070	c.1157_1187del31	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3511	Bienvenu T, ... Pubmed: 12180070	c.1157_1197del41	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3512	Bienvenu T, ... Pubmed: 12180070	c.1157_1197del41	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3758	Fukuda, ... Pubmed: 15737703	c.1157_1200del44	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - NK	Mutation associated with disease	F
3759	Fukuda, ... Pubmed: 15737703	c.1157_1200del44	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - NK	Mutation associated with disease	F
3760	Fukuda, ... Pubmed: 15737703	c.1157_1200del44	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - NK	Mutation associated with disease	F
3871	Khajuria, ... Pubmed: 19371229	c.1157_1200del44	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
4343	Monnerat, ... Pubmed: 20031356	c.1157_1197del41	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
4412	Das, ...	c.1157_1197del41	p.L386fs	frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
4413	Das, ...	c.1157_1197del41	p.L386fs	frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
4414	Das, ...	c.1157_1200del44	p.L386fs	frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
4415	Das, ...	c.1157_1200del44	p.L386fs	frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
4709	Hadzsiev, ... Pubmed: 21160487	c.1157_1188del32	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
4710	Hadzsiev, ... Pubmed: 21160487	c.1157_1197del41	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
4770	Ravn, ... Pubmed: 21878110	c.1157_1197del41	p.L386fs	frameshift insertion or deletion	C-term	Not Rett synd. - mental retardation	Mutation associated with disease	F
4771	Ravn, ... Pubmed: 21878110	c.1157_1197del41	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
4772	Ravn, ... Pubmed: 21878110	c.1157_1197del41	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - atypical	Mutation associated with disease	F
4922	Kim, ... Pubmed: 22476991	c.1157_1197del41	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
4931	Todorov, ... Pubmed: 22525432	c.1157_1200del44	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
5135	Maortua, ... Pubmed: 23810759	c.1157_1197del41	p.L386fs	frameshift insertion or deletion	C-term	Not Rett synd. - Rett-like	Mutation associated with disease	F
6753	Daniela�Zahorakova, ... Pubmed: 26984561	c.1157_1197del41	p.L386Hfs*5	frameshift insertion or deletion	C-term	Rett syndrome - atypical	Mutation associated with disease	F
6752	Daniela�Zahorakova, ... Pubmed: 26984561	c.1157_1197del41	p.L386Hfs*5	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
6660	Directly submitted	c.1157_1200del44	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
6659	Directly submitted	c.1157_1200del44	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
6658	Directly submitted	c.1157_1200del44	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
6656	Directly submitted	c.1157_1184del28	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
6655	Directly submitted	c.1157_1197del41	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - forme fruste	Mutation associated with disease	F
6654	Directly submitted	c.1157_1197del41	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
6653	Directly submitted	c.1157_1197del41	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - forme fruste	Mutation associated with disease	F
6652	Directly submitted	c.1157_1197del41	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
6651	Directly submitted	c.1157_1199del43	p.L386fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
259	Bourdon, ... Pubmed: 11214906	c.1158_1200del43	p.P387fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	U
949	Bienvenu, ... Pubmed: 10814719	c.1158_1167del10	p.P387fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
1179	Zappella, ... Pubmed: 11746022	c.1158_1186del29	p.P387fs	Frameshift insertion or deletion	C-term	Rett syndrome - Preserved speech	Mutation associated with disease	F
3303	Philippe C, ... Pubmed: 16473305	c.1158_1167del10	p.P387fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3310	Philippe C, ... Pubmed: 16473305	c.1158_1200del43	p.P387fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3416	Lebo RV, ... Pubmed: 11453972	c.1158_1198del41	p.P387fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3417	Lebo RV, ... Pubmed: 11453972	c.1158_1198del41	p.P387fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3610	Li, ... Pubmed: 17089071	c.1158_1186del29insCCA	p.P387HfsX9	frameshift combined insertion and deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
851	Xiang, ... Pubmed: 10745042	c.1159_1201del43	p.P387fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	U
1153	Watson, ... Pubmed: 11283202	c.1159_1210del52	p.P387fs	Frameshift insertion or deletion	C-term	Not Rett synd. - Angelman syndrome	Mutation associated with disease	F
3312	Philippe C, ... Pubmed: 16473305	c.1159_1458del300	p.P387X	in-frame insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3313	Philippe C, ... Pubmed: 16473305	c.1159_1160ins300	p.P387_P388ins100	in-frame insertion or deletion	C-term	Rett syndrome - not certain	Unknown	F
4773	Ravn, ... Pubmed: 21878110	c.1159_1160delCCinsT	p.P387fs	frameshift combined insertion and deletion	C-term	Not Rett synd. - mental retardation	Mutation associated with disease	F
4774	Ravn, ... Pubmed: 21878110	c.1159_1160delCCinsT	p.P387fs	frameshift combined insertion and deletion	C-term	Rett syndrome - atypical	Mutation associated with disease	F
4775	Ravn, ... Pubmed: 21878110	c.1159_1160delCCinsT	p.P387fs	frameshift combined insertion and deletion	C-term	Not Rett synd. - mild mental retardation	Mutation associated with disease	F
4776	Ravn, ... Pubmed: 21878110	c.1159_1160delCCinsT	p.P387fs	frameshift combined insertion and deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	M
40	Hoffbuhr, ... Pubmed: 11402105	c.1160_1185del26	p.P387fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
41	Hoffbuhr, ... Pubmed: 11402105	c.1160_1185del26	p.P387fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
42	Hoffbuhr, ... Pubmed: 11402105	c.1160_1185del26	p.P387fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
348	De Bona, ... Pubmed: 10854091	c.1160_1200del41	p.P387fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
1022	Couvert, ... Pubmed: 11309367	c.1160C>T	p.P387L	Missense	C-term	Not Rett synd. - X-linked mental retardation	Unknown	M
1427	Nicolao, ... Pubmed: 11462237	c.1160_1188del29	p.P387fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
1842	Bunyan, ...	c.1160_1200del41	p.P387fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
2952	Kammoun, ... Pubmed: 15173251	c.1160_1180del21	p.P387_E394delinsQ	in-frame insertion or deletion	C-term	Rett syndrome - classical	Unknown	F
3513	Bienvenu T, ... Pubmed: 12180070	c.1160_1180del21	p.P387_E394delinsQ	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Unknown	F
4344	Monnerat, ... Pubmed: 20031356	c.1160_1166del7	p.P387fs	frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
4711	Hadzsiev, ... Pubmed: 21160487	c.1160_1166del7	p.P387fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
4854	Psoni, ... Pubmed: 21982064	c.1160_1200del41insAGGGGTGG	p.P387_T400delinsQGW	in-frame combined insertion and deletion	C-term	Rett syndrome - classical	Unknown	F
837	Yntema, ... Pubmed: 11807877	c.1161_1400del240	p.P388_P467del	In-frame insertion or deletion	C-term	Not Rett synd. - Unaffected family member	Unknown	F
836	Yntema, ... Pubmed: 11807877	c.1161_1400del240	p.P388_P467del	In-frame insertion or deletion	C-term	Not Rett synd. - X-linked mental retardation	Unknown	M
835	Yntema, ... Pubmed: 11807877	c.1161_1400del240	p.P388_P467del	In-frame insertion or deletion	C-term	Not Rett synd. - Unaffected family member	Unknown	F
834	Yntema, ... Pubmed: 11807877	c.1161_1400del240	p.P388_P467del	In-frame insertion or deletion	C-term	Not Rett synd. - X-linked mental retardation	Unknown	M
833	Yntema, ... Pubmed: 11807877	c.1161_1400del240	p.P388_P467del	In-frame insertion or deletion	C-term	Not Rett synd. - X-linked mental retardation	Unknown	M
1856	Bunyan, ...	c.1161_1205del45insA	p.P389X	Frameshift combined insertion and deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
2636	Zahorakova, ... Pubmed: 17387578	c.1161C>T	p.P387P	silent	C-term	Rett syndrome - Classical	Silent polymorphism	F
4756	Hadzsiev, ... Pubmed: 21160487	c.1161C>T	p.P387P	silent	C-term	Rett syndrome - not certain	Silent polymorphism	F
4855	Psoni, ... Pubmed: 21982064	c.1161_1166del6	p.P390_P391del	in-frame insertion or deletion	C-term	Not Rett synd. - Angelman syndrome-like	Unknown	F
2183	Cardiff, ...	c.1162_1179del18	p.P388_P393del	In-frame insertion or deletion	C-term	Rett syndrome - Atypical	Polymorphism not causing disease	F
2626	Zahorakova, ... Pubmed: 17387578	c.1162C>T	p.P388S	missense	c-term	Rett syndrome - Classical	Unknown	F
2659	Lesca, ... Pubmed: 17383248	c.1162_1163delinsTA	p.P388X	frameshift combined insertion and deletion	C-term	Not Rett synd. - sporadic mental retardation	Mutation associated with disease	F
2857	Conforti, ... Pubmed: 12567420	c.1162C>T	p.P388S	missense	C-term	Rett syndrome - congenital onset	Unknown	F
2951	Kammoun, ... Pubmed: 15173251	c.1162_1191del30	p.P388_E397del	in-frame insertion or deletion	C-term	Rett syndrome - classical	Unknown	F
3314	Philippe C, ... Pubmed: 16473305	c.1162_1191del30	p.P388_E397del	in-frame insertion or deletion	C-term	Rett syndrome - not certain	Unknown	F
4107	Milunsky, ... Pubmed: 11960578	c.1162_1163delCC	p.P388fs	frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
4714	Hadzsiev, ... Pubmed: 21160487	c.1162_1179del18	p.P388_P393del	in-frame insertion or deletion	C-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
7003	Zhu Wen, ... Pubmed: 28785396	c.1162C>T		missense	C-term	Not Rett synd. - autism only	Unknown	M
126	Huppke, ... Pubmed: 10814718	c.1163_1197del35	p.P388fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
367	Directly submitted	c.1163_1197del35	p.P388fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
946	Bienvenu, ... Pubmed: 10814719	c.1163_1188del26	p.P388fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
918	Directly submitted	c.1163_1188del26	p.P388fs	Frameshift insertion or deletion	C-term	Rett syndrome - Forme fruste	Mutation associated with disease	U
919	Directly submitted	c.1163_1216del54	p.P388_P405del	In-frame insertion or deletion	C-term	Rett syndrome - Not certain	Unknown	U
1119	Buyse, ... Pubmed: 11055898	c.1163_1188del26	p.P388fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
1258	Huppke, ... Pubmed: 12075485	c.1163_1188del26	p.P388fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
1362	Laccone, ... Pubmed: 11241840	c.1163_*39del338	p.P388fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	U
1478	Vacca, ... Pubmed: 11269512	c.1163_1188del26	p.P388fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
1940	Schanen, ... Pubmed: 15057977	c.1163_1188del26	p.P388fs	Frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
2050	Directly submitted	c.1163_1179del17	p.P388fs	Frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
2476	Directly submitted	c.1163C>T	p.P388L	Missense	C-term	Rett syndrome - Forme fruste	Unknown	F
3062	Giunti L, ... Pubmed: 11738883	c.1163_1188del26	p.P388fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3311	Philippe C, ... Pubmed: 16473305	c.1163_1197del35	p.P388fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3316	Philippe C, ... Pubmed: 16473305	c.1163_1179del17	p.P388fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3317	Philippe C, ... Pubmed: 16473305	c.1163_1188del26	p.P388fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3379	Nielsen JB, ... Pubmed: 11313756	c.1163_1188del26	p.P388fs	frameshift insertion or deletion	C-term	Rett syndrome - forme fruste	Mutation associated with disease	F
3747	Fukuda, ... Pubmed: 15737703	c.1163_1197del35	p.P388fs	frameshift insertion or deletion	C-term	Rett syndrome - atypical	Mutation associated with disease	F
4100	Milunsky, ... Pubmed: 11960578	c.1163C>T	p.P388L	missense	C-term	Rett syndrome - classical	Unknown	F
4101	Milunsky, ... Pubmed: 11960578	c.1163C>T	p.P388L	missense	C-term	Not Rett synd. - unaffected family member	Unknown	F
4108	Milunsky, ... Pubmed: 11960578	c.1163_1201del39	p.P388_S401delinsR	in-frame insertion or deletion	C-term	Not Rett synd. - seizures, no speech	Unknown	F
4416	Das, ...	c.1163_1188del26	p.P388fs	frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
4712	Hadzsiev, ... Pubmed: 21160487	c.1163_1197del35	p.P388fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
6754	Daniela�Zahorakova, ... Pubmed: 26984561	c.1163_1200del38	p.P388Qfs*4	frameshift insertion or deletion	C-term	Rett syndrome - preserved speech	Mutation associated with disease	F
6646	Directly submitted	c.1163_1188del26	p.P388fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
14	Bunyan, ...	c.1164_1207del44	p.P389X	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
22	Bunyan, ...	c.1164_1207del44	p.P389X	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
43	Hoffbuhr, ... Pubmed: 11402105	c.1164_1206del43	p.P389fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
260	Bourdon, ... Pubmed: 11214906	c.1164_1206del43	p.P389fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	U
261	Bourdon, ... Pubmed: 11214906	c.1164_1206del43	p.P389fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	U
349	De Bona, ... Pubmed: 10854091	c.1164_1207del44	p.P389X	Frameshift insertion or deletion	C-term	Rett syndrome - Preserved speech	Mutation associated with disease	F
1121	Buyse, ... Pubmed: 11055898	c.1164_1207del44	p.P389X	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
1144	Buyse, ... Pubmed: 11055898	c.1164_1172del9	p.P389_P391del	In-frame insertion or deletion	C-term	Rett syndrome - Not certain	Unknown	F
1361	Laccone, ... Pubmed: 11241840	c.1164_1208del45	p.P389_P403del	In-frame insertion or deletion	C-term	Rett syndrome - Not certain	Unknown	U
1594	Bunyan, ...	c.1164_1207del44	p.P389X	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
1611	Bunyan, ...	c.1164_1207del44	p.P389X	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
1693	Friez, ...	c.1164_1207del44	p.P389X	Frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
1848	Bunyan, ...	c.1164_1207del44	p.P389X	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
2184	Cardiff, ...	c.1164_1207del44	p.P389X	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
2185	Cardiff, ...	c.1164_1207del44	p.P389X	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
2186	Cardiff, ...	c.1164_1207del44	p.P389X	Frameshift insertion or deletion	C-term	Rett syndrome - Atypical	Mutation associated with disease	F
2187	Cardiff, ...	c.1164_1207del44	p.P389X	Frameshift insertion or deletion	C-term	Rett syndrome - Atypical	Mutation associated with disease	F
2188	Cardiff, ...	c.1164_1207del44	p.P389X	Frameshift insertion or deletion	C-term	Rett syndrome - Atypical	Mutation associated with disease	F
2189	Cardiff, ...	c.1164_1207del44	p.P389X	Frameshift insertion or deletion	C-term	Rett syndrome - Atypical	Mutation associated with disease	F
2190	Cardiff, ...	c.1164_1207del44	p.P389X	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
2487	Peter Huppke, ... Pubmed: 16690727	c.1164_1207del44	p.P389X	Frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
2627	Zahorakova, ... Pubmed: 17387578	c.1164_1207del44	p.P389X	frameshift insertion or deletion	c-term	Rett syndrome - Classical	Mutation associated with disease	F
2628	Zahorakova, ... Pubmed: 17387578	c.1164_1207del44	p.P389X	frameshift insertion or deletion	c-term	Rett syndrome - Classical	Mutation associated with disease	F
2629	Zahorakova, ... Pubmed: 17387578	c.1164_1207del44	p.P389X	frameshift insertion or deletion	c-term	Rett syndrome - Classical	Mutation associated with disease	F
2755	Dayer, ... Pubmed: 16844334	c.1164_1207del44	p.P389X	frameshift insertion or deletion	C-term	Rett syndrome - male variant	Mutation associated with disease	M
2883	Smeets, ... Pubmed: 12966523	c.1164_1208del45	p.P389_P403del	in-frame insertion or deletion	C-term	Rett syndrome - congenital onset	Unknown	F
2884	Smeets, ... Pubmed: 12966523	c.1164_1207del44	p.P389X	frameshift insertion or deletion	C-term	Rett syndrome - preserved speech	Mutation associated with disease	F
2885	Smeets, ... Pubmed: 12966523	c.1164_1207del44	p.P389X	frameshift insertion or deletion	C-term	Rett syndrome - forme fruste	Mutation associated with disease	F
3011	Pan, ... Pubmed: 12111643	c.1164_1207del44	p.P389X	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
3065	Giunti L, ... Pubmed: 11738883	c.1164_1207del44	p.P389X	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3066	Giunti L, ... Pubmed: 11738883	c.1164_1207del44	p.P389X	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3315	Philippe C, ... Pubmed: 16473305	c.1164_1207del44	p.P389X	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3319	Philippe C, ... Pubmed: 16473305	c.1164delA	p.P389fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3415	Lebo RV, ... Pubmed: 11453972	c.1164_1206del43	p.P389fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
5301	Suter, ... Pubmed: 23921973	c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA	p.P389X	frameshift combined insertion and deletion	C-term	Not Rett synd. - ADHD, global developmental delay and OCD	Mutation associated with disease	F
3982	Dayer, ... Pubmed: 16844334	c.1164_1207del44	p.P389X	frameshift insertion or deletion	C-term	Not Rett synd. - unaffected family member	Mutation associated with disease	F
5300	Suter, ... Pubmed: 23921973	c.1164_1207del44	p.P389X	frameshift insertion or deletion	C-term	Not Rett synd. - autism	Mutation associated with disease	F
4308	Raizis, ... Pubmed: 19652677	c.1164_1207del44	p.P389X	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
4316	Raizis, ... Pubmed: 19652677	c.1164_1207del44	p.P389X	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
4417	Das, ...	c.1164_1207del44	p.P389X	frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	M
4418	Das, ...	c.1164_1207del44	p.P389X	frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
4790	Augenstein, ... Pubmed: 20151026	c.1164_1207del44	p.P389X	frameshift insertion or deletion	C-term	Not Rett synd. - slight cognitive delay, no regression known, moderate mental retardation	Mutation associated with disease	F
4791	Augenstein, ... Pubmed: 20151026	c.1164_1207del44	p.P389X	frameshift insertion or deletion	C-term	Not Rett synd. - moderate mental retardation, does not meet any RTT criteria, significant behavioural problems	Mutation associated with disease	F
4792	Augenstein, ... Pubmed: 20151026	c.1164_1207del44	p.P389X	frameshift insertion or deletion	C-term	Not Rett synd. - progressive neurodevelopmental problems, seizures at 2y, no purposeful hand use, regression of motor skills	Mutation associated with disease	M
4793	Augenstein, ... Pubmed: 20151026	c.1164_1207del44	p.P389X	frameshift insertion or deletion	C-term	Not Rett synd. - deceleration of head growth at 2 month, loss of gross motor skills by 7 y, some stereotypic movements	Mutation associated with disease	M
4794	Augenstein, ... Pubmed: 20151026	c.1164_1207del44	p.P389X	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
4821	Corbani, ... Pubmed: 21954873	c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA	p.P389X	in-frame insertion or deletion	C-term	Rett syndrome - atypical	Mutation associated with disease	F
4856	Psoni, ... Pubmed: 21982064	c.1164_1207del44	p.P389X	frameshift insertion or deletion	C-term	Not Rett synd. - mental retardation	Mutation associated with disease	F
4857	Psoni, ... Pubmed: 21982064	c.1164_1194del31	p.P391fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
6758	Daniela�Zahorakova, ... Pubmed: 26984561	c.1164_1207del44	p.Pro389*	nonsense	C-term	Rett syndrome - preserved speech	Mutation associated with disease	F
6757	Daniela�Zahorakova, ... Pubmed: 26984561	c.1164_1207del44	p.Pro389*	nonsense	C-term	Rett syndrome - classical	Mutation associated with disease	F
6756	Daniela�Zahorakova, ... Pubmed: 26984561	c.1164_1207del44	p.Pro389*	nonsense	C-term	Rett syndrome - atypical	Mutation associated with disease	F
6755	Daniela�Zahorakova, ... Pubmed: 26984561	c.1164_1207del44	p.Pro389*	nonsense	C-term	Not known - x-linked mental retardation	Mutation associated with disease	F
6673	Directly submitted	c.1164_1207del44	p.P389X	frameshift insertion or deletion	C-term	Not Rett synd. - X linked mental retardation	Mutation associated with disease	M
6674	Directly submitted	c.1164_1207del44	p.P389X	frameshift insertion or deletion	C-term	Not Rett synd. - not certain	Mutation associated with disease	F
6664	Directly submitted	c.1164_1207del44	p.P389X	frameshift insertion or deletion	C-term	Rett syndrome - forme fruste	Mutation associated with disease	F
6663	Directly submitted	c.1164_1207del44	p.P389X	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
6662	Directly submitted	c.1164_1207del44	p.P389X	frameshift insertion or deletion	C-term	Not Rett synd. - mental retardation	Mutation associated with disease	F
6661	Directly submitted	c.1164_1207del44	p.P389X	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
350	De Bona, ... Pubmed: 10854091	c.1165_1233del69ins21	p.P389_P411del23ins7	In-frame combined insertion and deletion	C-term	Rett syndrome - Classical	Unknown	F
929	Bienvenu, ... Pubmed: 10814719	c.1165_1190del26	p.P389fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
3318	Philippe C, ... Pubmed: 16473305	c.1165_1190del26	p.P389fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3320	Philippe C, ... Pubmed: 16473305	c.1165_1190del26	p.P389fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
1259	Huppke, ... Pubmed: 12075485	c.1167_1200del34	p.P390fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
4	Bunyan, ...	c.1168_1173del6	p.P390_P391del	In-frame insertion or deletion	C-term	Rett syndrome - Not certain	Polymorphism not causing disease	F
2049	Directly submitted	c.1168_1173del6	p.P390_P391del	In-frame insertion or deletion	C-term	Not known	Polymorphism not causing disease	F
2068	Directly submitted	c.1168_1173del6	p.P390_P391del	In-frame insertion or deletion	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	M
2191	Cardiff, ...	c.1168_1173del6	p.P390_P391del	In-frame insertion or deletion	C-term	Rett syndrome - Not certain	Polymorphism not causing disease	F
2891	Djarmati, ... Pubmed: 17986102	c.1168_1173del6	p.P390_P391del	in-frame insertion or deletion	C-term	Rett syndrome - atypical	Polymorphism not causing disease	F
5250	Chapleau, ... Pubmed: 23696494	c.1168_1173del6	p.P390_P391del	in-frame insertion or deletion	C-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
6865	Daniela�Zahorakova, ... Pubmed: 26984561	c.1168_1173del6	p.P390_P391del	frameshift insertion or deletion	C-term	Not Rett synd. - mental retardation	Unknown	F
6650	Directly submitted	c.1168_1173del6	p.P390_P391del	frameshift insertion or deletion	C-term	Not Rett synd. - mild mental retardation	Unknown	F
6649	Directly submitted	c.1168_1173del6	p.P390_P391del	frameshift insertion or deletion	C-term	Not Rett synd. - mild mental retardation	Unknown	F
6648	Directly submitted	c.1168_1173del6	p.P390_P391del	frameshift insertion or deletion	C-term	Not Rett synd. - unaffected family member	Unknown	F
6647	Directly submitted	c.1168_1173del6	p.P390_P391del	frameshift insertion or deletion	C-term	Not Rett synd. - x-linked mental retardation	Unknown	M
6614	Directly submitted	c.1168_1173del6	p.P390_P391del	in-frame insertion or deletion	C-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
3619	Li, ... Pubmed: 17089071	c.1169-?_*?del	p.P390fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
3782	Archer HL, ... Pubmed: 16183801	c.1169-?_1170+?del	p.?	exonic deletions	C-term	Rett syndrome - classical	Mutation associated with disease	F
3783	Archer HL, ... Pubmed: 16183801	c.1169-?_1397+?del	p.?	exonic deletions	C-term	Rett syndrome - classical	Mutation associated with disease	F
4419	Das, ...	c.1170_1207del38	p.P391X	frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
6645	Directly submitted	c.1173_1207del35	p.E392X	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
1218	Chae, ... Pubmed: 11913567	c.1176G>A	p.E392E	Silent	C-term	Rett syndrome - Classical	Silent polymorphism	F
3033	Yntema HG, ... Pubmed: 12111644	c.1180G>A	p.E394K	missense	C-term	Not Rett synd. - mental retardation	Polymorphism not causing disease	M
4058	Yntema HG, ... Pubmed: 12111644	c.1180G>A	p.E394K	missense	C-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
4059	Yntema HG, ... Pubmed: 12111644	c.1180G>A	p.E394K	missense	C-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
5110	Directly submitted	c.1180_1181insT	p.E394VfsX11	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
5237	Chapleau, ... Pubmed: 23696494	c.1180G>A	p.E394K	missense	C-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
205	Hampson, ... Pubmed: 10991689	c.1189G>A	p.E397K	Missense	C-term	Rett syndrome - Not certain	Polymorphism not causing disease	F
398	Directly submitted	c.1189G>A	p.E397K	Missense	C-term	Rett syndrome - Classical	Polymorphism not causing disease	F
399	Directly submitted	c.1189G>A	p.E397K	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	M
437	Directly submitted	c.1189G>A	p.E397K	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
1129	Buyse, ... Pubmed: 11055898	c.1189G>A	p.E397K	Missense	C-term	Rett syndrome - Not certain	Polymorphism not causing disease	F
1394	Moncla, ... Pubmed: 11896461	c.1189G>A	p.E397K	Missense	C-term	Not Rett synd. - Sporadic mental retardation	Polymorphism not causing disease	M
1499	Wan, ... Pubmed: 10577905	c.1189G>A	p.E397K	Missense	C-term	Rett syndrome - Not certain	Polymorphism not causing disease	F
1500	Wan, ... Pubmed: 10577905	c.1189G>A	p.E397K	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
1501	Wan, ... Pubmed: 10577905	c.1189G>A	p.E397K	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	M
1502	Wan, ... Pubmed: 10577905	c.1189G>A	p.E397K	Missense	C-term	Not Rett synd. - Non Rett syndrome control	Polymorphism not causing disease	U
1503	Wan, ... Pubmed: 10577905	c.1189G>A	p.E397K	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
1573	Beyer, ... Pubmed: 12384770	c.1189G>A	p.E397K	Missense	C-term	Not Rett synd. - autism only	Polymorphism not causing disease	F
1589	Beyer, ... Pubmed: 12384770	c.1189G>A	p.E397K	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
1835	Bunyan, ...	c.1189G>A	p.E397K	Missense	C-term	Rett syndrome - Not certain	Polymorphism not causing disease	F
1909	Directly submitted	c.1189G>A	p.E397K	Missense	C-term	Rett syndrome - Not certain	Polymorphism not causing disease	F
1910	Directly submitted	c.1189G>A	p.E397K	Missense	C-term	Rett syndrome - Not certain	Polymorphism not causing disease	F
1974	Tero Ylisaukko-oja, ... Pubmed: 15578581	c.1189G>A	p.E397K	Missense	C-term	Not Rett synd. - Sporadic mental retardation	Polymorphism not causing disease	M
2009	Directly submitted	c.1189G>A	p.E397K	Missense	C-term	Not known	Polymorphism not causing disease	M
2026	Directly submitted	c.1189G>A	p.E397K	Missense	C-term	Not known	Polymorphism not causing disease	F
2039	Directly submitted	c.1189G>A	p.E397K	Missense	C-term	Not known	Polymorphism not causing disease	F
2130	Cardiff, ...	c.1189G>A	p.E397K	Missense	C-term	Not known	Polymorphism not causing disease	F
2152	Cardiff, ...	c.1189G>A	p.E397K	Missense	C-term	Not known	Polymorphism not causing disease	M
2522	Tejada M-I, ... Pubmed: 16879196	c.1189G>A	p.E397K	Missense	C-term	Not Rett synd. - Sporadic mental retardation	Polymorphism not causing disease	F
2523	Tejada M-I, ... Pubmed: 16879196	c.1189G>A	p.E397K	Missense	C-term	Not Rett synd. - Sporadic mental retardation	Polymorphism not causing disease	F
2656	Lesca, ... Pubmed: 17383248	c.1189G>A	p.E397K	missense	C-term	Not Rett synd. - sporadic mental retardation	Polymorphism not causing disease	U
2667	Coutinho, ... Pubmed: 17427193	c.1189G>A	p.E397K	missense	C-term	Not Rett synd. - Autism	Polymorphism not causing disease	M
2774	Donzel-Javouhey, ... Pubmed: 16763963	c.1189G>A	p.E397K	missense	C-term	Not Rett synd. - non-specfic mental retardation	Polymorphism not causing disease	F
3028	Yntema HG, ... Pubmed: 12111644	c.1189G>A	p.E397K	missense	C-term	Not Rett synd. - mental retardation	Polymorphism not causing disease	M
3077	Giunti L, ... Pubmed: 11738883	c.1189G>A	p.E397K	missense	C-term	Rett syndrome - not certain	Polymorphism not causing disease	F
3919	Lesca, ... Pubmed: 17383248	c.1189G>A	p.E397K	missense	C-term	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
4076	Lee SSJ, ... Pubmed: 11738860	c.1189G>A	p.E397K	missense	C-term	Rett syndrome - not certain	Polymorphism not causing disease	F
4077	Lee SSJ, ... Pubmed: 11738860	c.1189G>A	p.E397K	missense	C-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
4078	Lee SSJ, ... Pubmed: 11738860	c.1189G>A	p.E397K	missense	C-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
4313	Raizis, ... Pubmed: 19652677	c.1189G>T	p.E397X	nonsense	C-term	Rett syndrome - not certain	Mutation associated with disease	F
4610	Piton, ... Pubmed: 20479760	c.1189G>A	p.E397K	missense	C-term	Not Rett synd. - autism spectrum disorder	Polymorphism not causing disease	U
4611	Piton, ... Pubmed: 20479760	c.1189G>A	p.E397K	missense	C-term	Not Rett synd. - schizophrenia	Polymorphism not causing disease	U
4612	Piton, ... Pubmed: 20479760	c.1189G>A	p.E397K	missense	C-term	Not Rett synd. - schizophrenia	Polymorphism not causing disease	U
4613	Piton, ... Pubmed: 20479760	c.1189G>A	p.E397K	missense	C-term	Not Rett synd. - normal control	Polymorphism not causing disease	U
4757	Hadzsiev, ... Pubmed: 21160487	c.1189G>A	p.E397K	missense	C-term	Rett syndrome - not certain	Polymorphism not causing disease	F
4819	Corbani, ... Pubmed: 21954873	c.1189G>A	p.E397K	missense	C-term	Not Rett synd. - not certain	Polymorphism not causing disease	F
4861	Psoni, ... Pubmed: 21982064	c.1189G>A	p.E397K	missense	C-term	Rett syndrome - atypical	Polymorphism not causing disease	F
5068	Das, ... Pubmed: 23262346	c.1189G>A	p.E397K	missense	C-term	Rett syndrome - not certain	Polymorphism not causing disease	F
5211	Maortua, ... Pubmed: 23810759	c.1189G>A	p.E397K	missense	C-term	Rett syndrome - not certain	Polymorphism not causing disease	F
5212	Maortua, ... Pubmed: 23810759	c.1189G>A	p.E397K	missense	C-term	Rett syndrome - not certain	Polymorphism not causing disease	F
5213	Maortua, ... Pubmed: 23810759	c.1189G>A	p.E397K	missense	C-term	Not Rett synd. - normal control	Polymorphism not causing disease	U
6867	Daniela�Zahorakova, ... Pubmed: 26984561	c.1189G>A	p.E397K	Missense	C-term	Not Rett synd. - mental retardation	Polymorphism not causing disease	F
6866	Daniela�Zahorakova, ... Pubmed: 26984561	c.1189G>A	p.E397K	Missense	C-term	Not Rett synd. - mental retardation	Polymorphism not causing disease	F
6914	Directly submitted	c.1189G>A	p.Glu397Lys	missense	C-term	Not Rett synd. - not certain	Polymorphism not causing disease	F
6905	Directly submitted	c.1189G>A	p.Glu409Lys	missense	C-term	Not Rett synd. - not certain	Polymorphism not causing disease	F
6902	Directly submitted	c.1189G>A	p.Glu397Lys	nonsense	C-term	Not known	Polymorphism not causing disease	F
1524	Yamada, ... Pubmed: 11524741	c.1190dupA	p.D398fs	Frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	U
6910	Directly submitted	c.1193A>C	p.Asp398Ala	missense	C-term	Not Rett synd. - not certain	Polymorphism not causing disease	M
933	Bienvenu, ... Pubmed: 10814719	c.1194_1195insT	p.P399fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
1670	Friez, ...	c.1194_1195insT	p.P399fs	Frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
2953	Kammoun, ... Pubmed: 15173251	c.1194_1195insT	p.P399fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
1016	Couvert, ... Pubmed: 11309367	c.1196C>T	p.P399L	Missense	C-term	Not Rett synd. - X-linked mental retardation	Polymorphism not causing disease	M
1536	Laccone, ... Pubmed: 12161600	c.1196C>T	p.P399L	Missense	C-term	Rett syndrome - Not certain	Polymorphism not causing disease	F
1537	Laccone, ... Pubmed: 12161600	c.1196C>T	p.P399L	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	M
3522	Bienvenu T, ... Pubmed: 12180070	c.1196_1266del71	p.P399fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
5214	Maortua, ... Pubmed: 23810759	c.1196C>T	p.P399L	missense	C-term	Not Rett synd. - normal control	Polymorphism not causing disease	U
1008	Cheadle, ... Pubmed: 10767337	c.1197C>T	p.P399P	Silent	C-term	Rett syndrome - Not certain	Silent polymorphism	U
1577	Beyer, ... Pubmed: 12384770	c.1197C>T	p.P399P	Silent	C-term	Not Rett synd. - autism only	Silent polymorphism	M
2417	Directly submitted	c.1197C>T	p.P399P	Silent	C-term	Rett syndrome - Classical	Silent polymorphism	F
2668	Coutinho, ... Pubmed: 17427193	c.1197C>T	p.P399P	silent	C-term	Not Rett synd. - Autism	Silent polymorphism	U
2669	Coutinho, ... Pubmed: 17427193	c.1197C>T	p.P399P	silent	C-term	Not Rett synd. - Autism	Silent polymorphism	U
3410	Yamashita Y, ... Pubmed: 11738864	c.1197dupC	p.T400fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
3751	Fukuda, ... Pubmed: 15737703	c.1197dupC	p.T400fs	frameshift insertion or deletion	C-term	Rett syndrome - atypical	Mutation associated with disease	F
4820	Corbani, ... Pubmed: 21954873	c.1197C>T	p.P399P	silent	C-term	Not Rett synd. - not certain	Silent polymorphism	F
5215	Maortua, ... Pubmed: 23810759	c.1197C>T	p.P399P	silent	C-term	Not Rett synd. - normal control	Silent polymorphism	U
6868	Daniela�Zahorakova, ... Pubmed: 26984561	c.1197C>T	p.P399P	silent	C-term	Not Rett synd. - mental retardation	Silent polymorphism	F
6643	Directly submitted	c.1197dupC	p.T400fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
1429	Nicolao, ... Pubmed: 11462237	c.1200dupC	p.S401fs	Frameshift insertion or deletion	C-term	Rett syndrome - Classical	Mutation associated with disease	F
2391	Michele Zappella, ... Pubmed: 12707946	c.1202G>A	p.S401N	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	M
2392	Michele Zappella, ... Pubmed: 12707946	c.1202G>A	p.S401N	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
2393	Michele Zappella, ... Pubmed: 12707946	c.1202G>A	p.S401N	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
2394	Michele Zappella, ... Pubmed: 12707946	c.1202G>A	p.S401N	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
3322	Philippe C, ... Pubmed: 16473305	c.1202dupG	p.S401fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
1578	Beyer, ... Pubmed: 12384770	c.1205C>T	p.P402L	Missense	C-term	Not Rett synd. - autism only	Polymorphism not causing disease	M
1579	Beyer, ... Pubmed: 12384770	c.1205C>T	p.P402L	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
1580	Beyer, ... Pubmed: 12384770	c.1205C>T	p.P402L	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	M
1581	Beyer, ... Pubmed: 12384770	c.1205C>T	p.P402L	Missense	C-term	Not Rett synd. - autism only	Polymorphism not causing disease	F
1582	Beyer, ... Pubmed: 12384770	c.1205C>T	p.P402L	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
7024	Huong Le Thi Thanh , ... Pubmed: 30081849	c.1205_1206insT		nonsense	C-term	Rett syndrome - classical	Mutation associated with disease	F
2524	Tejada M-I, ... Pubmed: 16879196	c.1206C>T	p.P402P	Silent	C-term	Not Rett synd. - Sporadic mental retardation	Silent polymorphism	F
2657	Lesca, ... Pubmed: 17383248	c.1206C>T	p.P402P	silent	C-term	Not Rett synd. - sporadic mental retardation	Silent polymorphism	U
2775	Donzel-Javouhey, ... Pubmed: 16763963	c.1206C>T	p.P402P	silent	C-term	Not Rett synd. - mental retardation	Silent polymorphism	F
4609	Piton, ... Pubmed: 20479760	c.1206C>T	p.P402P	silent	C-term	Not Rett synd. - autism spectrum disorder	Silent polymorphism	U
5216	Maortua, ... Pubmed: 23810759	c.1206C>T	p.P402P	silent	C-term	Rett syndrome - not certain	Silent polymorphism	F
6579	Directly submitted	c.1210G>A	p.E404K	missense	C-term	Rett syndrome - classical	Unknown	F
2763	Moog, ... Pubmed: 16376510	c.1214C>T	p.P405L	missense	C-term	Not Rett synd. - mental retardation and autism combined	Unknown	M
3851	Campos, ... Pubmed: 18678449	c.1214C>T	p.P405L	missense	C-term	Not Rett synd. - Mental retardation	Unknown	M
3933	Moog, ... Pubmed: 16376510	c.1214C>T	p.P405L	missense	C-term	Not Rett synd. - borderline intelligence	Unknown	F
3934	Moog, ... Pubmed: 16376510	c.1214C>T	p.P405L	missense	C-term	Not Rett synd. - borderline intelligence and epilepsy	Unknown	F
4420	Das, ...	c.1214_1230del17	p.P405fs	frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
2149	Cardiff, ...	c.1215C>T	p.P405P	Silent	C-term	Not Rett synd. - not certain	Silent polymorphism	F
2150	Cardiff, ...	c.1215C>T	p.P405P	Silent	C-term	Not Rett synd. - Unaffected family member	Silent polymorphism	F
2151	Cardiff, ...	c.1215C>T	p.P405P	Silent	C-term	Not Rett synd. - Unaffected family member	Silent polymorphism	M
838	Meloni, ... Pubmed: 10986043	c.1216C>T	p.Q406X	Nonsense	C-term	Not Rett synd. - X-linked mental retardation	Mutation associated with disease	M
1542	Meloni, ... Pubmed: 10986043	c.1216C>T	p.Q406X	Nonsense	C-term	Not Rett synd. - Unaffected family member	Mutation associated with disease	F
1543	Meloni, ... Pubmed: 10986043	c.1216C>T	p.Q406X	Nonsense	C-term	Not Rett synd. - X-linked mental retardation	Mutation associated with disease	M
1544	Meloni, ... Pubmed: 10986043	c.1216C>T	p.Q406X	Nonsense	C-term	Not Rett synd. - Unaffected family member	Mutation associated with disease	F
2490	Tjitske Kleefstra, ... Pubmed: 14560307	c.1216C>T	p.Q406X	Nonsense	C-term	Not Rett synd. - Sporadic mental retardation	Mutation associated with disease	F
4914	Kim, ... Pubmed: 22476991	c.1216C>T	p.Q406X	nonsense	C-term	Rett syndrome - not certain	Mutation associated with disease	F
2117	Cardiff, ...	c.1223_1265del43	p.L408fs	Frameshift insertion or deletion	C-term	Rett syndrome - Atypical	Mutation associated with disease	F
2125	Cardiff, ...	c.1229G>A	p.S410N	Missense	C-term	Rett syndrome - Classical	Unknown	F
850	Amir, ... Pubmed: 10508514	c.1233C>T	p.S411S	Silent	C-term	Rett syndrome - Classical	Silent polymorphism	U
1130	Buyse, ... Pubmed: 11055898	c.1233C>T	p.S411S	Silent	C-term	Rett syndrome - Not certain	Silent polymorphism	F
1131	Buyse, ... Pubmed: 11055898	c.1233C>T	p.S411S	Silent	C-term	Rett syndrome - Not certain	Silent polymorphism	F
1132	Buyse, ... Pubmed: 11055898	c.1233C>T	p.S411S	Silent	C-term	Rett syndrome - Not certain	Silent polymorphism	F
1133	Buyse, ... Pubmed: 11055898	c.1233C>T	p.S411S	Silent	C-term	Rett syndrome - Not certain	Silent polymorphism	F
1134	Buyse, ... Pubmed: 11055898	c.1233C>T	p.S411S	Silent	C-term	Rett syndrome - Not certain	Silent polymorphism	F
1135	Buyse, ... Pubmed: 11055898	c.1233C>T	p.S411S	Silent	C-term	Rett syndrome - Not certain	Silent polymorphism	F
1557	Fridman C, ...	c.1233C>T	p.S411S	Silent	C-term	Not Rett synd. - angelman syndrome	Silent polymorphism	F
1819	Rosa, ... Pubmed: 12707062	c.1233C>T	p.S411S	Silent	C-term	Not Rett synd. - Not certain	Silent polymorphism	M
1838	Bunyan, ...	c.1233C>T	p.S411S	Silent	C-term	Rett syndrome - Not certain	Silent polymorphism	F
2030	Directly submitted	c.1233C>T	p.S411S	Silent	C-term	Not known	Silent polymorphism	M
2379	Akane Shibayama, ... Pubmed: 15211631	c.1233C>T	p.S411S	Silent	C-term	Not Rett synd. - Phobia	Silent polymorphism	F
2380	Akane Shibayama, ... Pubmed: 15211631	c.1233C>T	p.S411S	Silent	C-term	Not Rett synd. - Alcoholism	Silent polymorphism	M
2381	Akane Shibayama, ... Pubmed: 15211631	c.1233C>T	p.S411S	Silent	C-term	Not Rett synd. - Alcoholism	Silent polymorphism	M
2382	Akane Shibayama, ... Pubmed: 15211631	c.1233C>T	p.S411S	Silent	C-term	Not Rett synd. - ADHD	Silent polymorphism	M
2383	Akane Shibayama, ... Pubmed: 15211631	c.1233C>T	p.S411S	Silent	C-term	Not Rett synd. - ADHD	Silent polymorphism	M
2525	Tejada M-I, ... Pubmed: 16879196	c.1233C>T	p.S411S	Silent	C-term	Not Rett synd. - Sporadic mental retardation	Silent polymorphism	M
2526	Tejada M-I, ... Pubmed: 16879196	c.1233C>T	p.S411S	Silent	C-term	Not Rett synd. - Sporadic mental retardation	Silent polymorphism	M
2670	Coutinho, ... Pubmed: 17427193	c.1233C>T	p.S411S	silent	C-term	Not Rett synd. - Autism	Silent polymorphism	U
4289	de Lima, ... Pubmed: 19722030	c.1233C>T	p.S411S	silent	C-term	Rett syndrome - not certain	Silent polymorphism	F
4290	de Lima, ... Pubmed: 19722030	c.1233C>T	p.S411S	silent	C-term	Rett syndrome - not certain	Silent polymorphism	F
4291	de Lima, ... Pubmed: 19722030	c.1233C>T	p.S411S	silent	C-term	Rett syndrome - not certain	Silent polymorphism	F
4292	de Lima, ... Pubmed: 19722030	c.1233C>T	p.S411S	silent	C-term	Rett syndrome - not certain	Silent polymorphism	F
4345	Monnerat, ... Pubmed: 20031356	c.1233C>T	p.S411S	silent	C-term	Rett syndrome - Classical	Silent polymorphism	F
4389	Monnerat, ... Pubmed: 20031356	c.1233C>T	p.S411S	silent	C-term	Not Rett synd. - normal control	Silent polymorphism	F
4606	Piton, ... Pubmed: 20479760	c.1233C>T	p.S411S	silent	C-term	Not Rett synd. - autism spectrum disorder	Silent polymorphism	U
4607	Piton, ... Pubmed: 20479760	c.1233C>T	p.S411S	silent	C-term	Not Rett synd. - autism spectrum disorder	Silent polymorphism	U
4608	Piton, ... Pubmed: 20479760	c.1233C>T	p.S411S	silent	C-term	Not Rett synd. - normal control	Silent polymorphism	U
4966	Willemsen, ... Pubmed: 22670143	c.1233_1243del11	p.S411fs	frameshift insertion or deletion	C-term	Not Rett synd.	Unknown	M
4967	Willemsen, ... Pubmed: 22670143	c.1233_1243del11	p.S411fs	frameshift insertion or deletion	C-term	Not Rett synd. - learning disability	Unknown	F
5217	Maortua, ... Pubmed: 23810759	c.1233C>T	p.S411S	silent	C-term	Rett syndrome - not certain	Silent polymorphism	F
5218	Maortua, ... Pubmed: 23810759	c.1233C>T	p.S411S	silent	C-term	Not Rett synd. - normal control	Silent polymorphism	U
1143	Buyse, ... Pubmed: 11055898	c.1234G>A	p.V412I	Missense	C-term	Rett syndrome - Not certain	Polymorphism not causing disease	F
2147	Cardiff, ...	c.1234G>A	p.V412I	Missense	C-term	Not known	Polymorphism not causing disease	M
2148	Cardiff, ...	c.1234G>A	p.V412I	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
5219	Maortua, ... Pubmed: 23810759	c.1234G>A	p.V412I	missense	C-term	Not Rett synd. - normal control	Polymorphism not causing disease	U
5220	Maortua, ... Pubmed: 23810759	c.1234G>A	p.V412I	missense	C-term	Not Rett synd. - normal control	Polymorphism not causing disease	U
1	Bunyan, ...	c.1235_1260del26	p.V412fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
2061	Directly submitted	c.1239C>T	p.C413C	Silent	C-term	Not known	Silent polymorphism	F
2062	Directly submitted	c.1239C>T	p.C413C	Silent	C-term	Not Rett synd. - Unaffected family member	Silent polymorphism	M
2796	Kankirawatana, ... Pubmed: 16832102	c.1250A>T	p.K417M	missense	C-term	Not Rett synd. - progressive encephalopathy of neonatal onset	Unknown	M
4675	Kankirawatana, ... Pubmed: 16832102	c.1250A>T	p.K417M	missense	C-term	Not Rett synd. - unaffected family member	Unknown	F
6619	Directly submitted	c.1250A>T	p.K417M	missense	C-term	Not Rett synd. - infant-onset encephalopathy	Unknown	M
6912	Directly submitted	c.1255C>T	p.Pro419Ser	missense	C-term	Not Rett synd. - not certain	Unknown	F
1824	Bunyan, ...	c.1265_1289del25insAGCGGCCG	p.G422fs	Frameshift combined insertion and deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
1911	Directly submitted	c.1266C>T	p.G422G	Silent	C-term	Rett syndrome - Not certain	Silent polymorphism	F
2776	Donzel-Javouhey, ... Pubmed: 16763963	c.1266C>T	p.G422G	silent	C-term	Not Rett synd. - non-specfic mental retardation	Silent polymorphism	F
4758	Hadzsiev, ... Pubmed: 21160487	c.1266C>T	p.G422G	silent	C-term	Rett syndrome - not certain	Silent polymorphism	F
5221	Maortua, ... Pubmed: 23810759	c.1266C>T	p.G422G	silent	C-term	Not Rett synd. - normal control	Silent polymorphism	U
1662	Friez, ...	c.1271_1416del146	p.L424fs	Frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
4421	Das, ...	c.1276_*113del299ins3	p.S426fs	frameshift combined insertion and deletion	C-term	Not known	Mutation associated with disease	F
4079	Khajuria, ...	c.1278C>T	p.S426S	silent	C-term	Rett syndrome - atypical	Silent polymorphism	F
1150	Imessaoudene, ... Pubmed: 11238684	c.1282G>A	p.G428S	Missense	C-term	Not Rett synd. - Non-progressive encephalopathy of neonatal onset	Polymorphism not causing disease	M
1529	Laccone, ... Pubmed: 12161600	c.1282G>A	p.G428S	Missense	C-term	Not Rett synd. - Progressive encephalopathy of neonatal onset	Polymorphism not causing disease	M
1530	Laccone, ... Pubmed: 12161600	c.1282G>A	p.G428S	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
1531	Laccone, ... Pubmed: 12161600	c.1282G>A	p.G428S	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	M
1550	Imessaoudene, ... Pubmed: 11238684	c.1282G>A	p.G428S	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
1551	Imessaoudene, ... Pubmed: 11238684	c.1282G>A	p.G428S	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
1552	Imessaoudene, ... Pubmed: 11238684	c.1282G>A	p.G428S	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
3816	Khajuria, ...	c.1284C>T	p.G428G	silent	C-term	Rett syndrome - classical	Silent polymorphism	F
4588	Khajuria, ... Pubmed: 21285040	c.1288C>T	p.P430S	missense	C-term	Rett syndrome - male variant	Polymorphism not causing disease	M
4589	Khajuria, ... Pubmed: 21285040	c.1288C>T	p.P430S	missense	C-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
4590	Khajuria, ... Pubmed: 21285040	c.1288C>T	p.P430S	missense	C-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
4591	Khajuria, ... Pubmed: 21285040	c.1288C>T	p.P430S	missense	C-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
4592	Khajuria, ... Pubmed: 21285040	c.1288C>T	p.P430S	missense	C-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
1122	Buyse, ... Pubmed: 11055898	c.1308_1309delTC	p.Q437fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Mutation associated with disease	F
6642	Directly submitted	c.1308_1309delTC	p.Q437fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
1574	Beyer, ... Pubmed: 12384770	c.1315G>A	p.A439T	Missense	C-term	Not Rett synd. - autism only	Unknown	M
1587	Beyer, ... Pubmed: 12384770	c.1315G>A	p.A439T	Missense	C-term	Not Rett synd. - Unaffected family member	Unknown	F
2145	Cardiff, ...	c.1315G>A	p.A439T	Missense	C-term	Not known	Unknown	F
2146	Cardiff, ...	c.1315G>A	p.A439T	Missense	C-term	Not known	Unknown	F
2165	Cardiff, ...	c.1315G>A	p.A439T	Missense	C-term	Not Rett synd. - ADHD	Unknown	M
2166	Cardiff, ...	c.1315G>A	p.A439T	Missense	C-term	Not Rett synd. - Non Rett syndrome control	Unknown	M
2777	Donzel-Javouhey, ... Pubmed: 16763963	c.1315G>A	p.A439T	missense	C-term	Not Rett synd. - mental retardation	Unknown	F
6909	Directly submitted	c.1316C>T	p.Ala439Val	missense	C-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
3752	Fukuda, ... Pubmed: 15737703	c.1320dupT	p.A441fs	frameshift insertion or deletion	C-term	Rett syndrome - atypical	Mutation associated with disease	F
1721	Friez, ...	c.1324_1364del41	p.T442fs	Frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
2016	Directly submitted	c.1324A>G	p.T442A	Missense	C-term	Not known	Unknown	F
6644	Directly submitted	c.1324_1364del41	p.T442fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
150	Amano, ... Pubmed: 10944854	c.1326C>T	p.T442T	Silent	C-term	Not Rett synd. - Unaffected family member	Silent polymorphism	F
1210	Chae, ... Pubmed: 11913567	c.1326C>T	p.T442T	Silent	C-term	Rett syndrome - Classical	Silent polymorphism	F
2830	Kim, ... Pubmed: 16672765	c.1326C>T	p.T442T	silent	C-term	Rett syndrome - classical	Silent polymorphism	F
4864	Psoni, ... Pubmed: 21982064	c.1326C>T	p.T442T	silent	C-term	Rett syndrome - atypical	Silent polymorphism	F
4897	Zvereff, ... Pubmed: 22277191	c.1327G>A	p.A443T	missense	C-term	Not Rett synd. - nonspecific mental retardation	Unknown	M
4898	Zvereff, ... Pubmed: 22277191	c.1327G>A	p.A443T	missense	C-term	Not Rett synd. - unaffected family member	Unknown	F
1136	Buyse, ... Pubmed: 11055898	c.1330G>A	p.A444T	Missense	C-term	Rett syndrome - Not certain	Polymorphism not causing disease	F
1137	Buyse, ... Pubmed: 11055898	c.1330G>A	p.A444T	Missense	C-term	Rett syndrome - Not certain	Polymorphism not causing disease	F
1548	Buyse, ... Pubmed: 11055898	c.1330G>A	p.A444T	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	M
1549	Buyse, ... Pubmed: 11055898	c.1330G>A	p.A444T	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	M
1711	Friez, ...	c.1330_1342del13	p.A444fs	Frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
2164	Cardiff, ...	c.1330G>A	p.A444T	Missense	C-term	Rett syndrome - Atypical	Polymorphism not causing disease	F
2671	Coutinho, ... Pubmed: 17427193	c.1330G>A	p.A444T	missense	C-term	Not Rett synd. - Autism	Polymorphism not causing disease	M
2778	Donzel-Javouhey, ... Pubmed: 16763963	c.1330G>A	p.A444T	missense	C-term	Not Rett synd. - mental retardation	Polymorphism not causing disease	F
4074	Lee SSJ, ... Pubmed: 11738860	c.1330G>A	p.A444T	missense	C-term	Rett syndrome - not certain	Polymorphism not causing disease	F
4075	Lee SSJ, ... Pubmed: 11738860	c.1330G>A	p.A444T	missense	C-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
6871	Daniela�Zahorakova, ... Pubmed: 26984561	c.1330G>A	p.A444T	Missense	C-term	Not Rett synd. - mental retardation	Polymorphism not causing disease	F
6870	Daniela�Zahorakova, ... Pubmed: 26984561	c.1330G>A	p.A444T	Missense	C-term	Not Rett synd. - mental retardation	Polymorphism not causing disease	F
6869	Daniela�Zahorakova, ... Pubmed: 26984561	c.1330G>A	p.A444T	Missense	C-term	Not Rett synd. - mental retardation	Polymorphism not causing disease	F
6906	Directly submitted	c.1330G>A	p.Ala444Thr	missense	C-term	Not Rett synd.	Polymorphism not causing disease	F
6896	Directly submitted	c.1330G>A	p.Ala444Thr	missense	C-term		Polymorphism not causing disease	F
414	Directly submitted	c.1335G>A	p.T445T	Silent	C-term	Not Rett synd. - Unaffected family member	Silent polymorphism	F
415	Directly submitted	c.1335G>A	p.T445T	Silent	C-term	Rett syndrome - Atypical	Silent polymorphism	F
2637	Zahorakova, ... Pubmed: 17387578	c.1335G>A	p.T445T	silent	c-term	Rett syndrome - Classical	Silent polymorphism	F
2672	Coutinho, ... Pubmed: 17427193	c.1335G>A	p.T445T	silent	C-term	Not Rett synd. - Autism	Silent polymorphism	U
2779	Donzel-Javouhey, ... Pubmed: 16763963	c.1335G>A	p.T445T	silent	C-term	Not Rett synd. - non-specfic mental retardation	Silent polymorphism	F
3998	Coutinho, ... Pubmed: 17427193	c.1335G>A	p.T445T	silent	C-term	Not Rett synd. - non-Rett syndrome control	Silent polymorphism	U
3999	Coutinho, ... Pubmed: 17427193	c.1335G>A	p.T445T	silent	C-term	Not Rett synd. - non-Rett syndrome control	Silent polymorphism	U
4635	Piton, ... Pubmed: 20479760	c.1335G>A	p.T445T	silent	C-term	Not Rett synd. - normal control	Silent polymorphism	U
5222	Maortua, ... Pubmed: 23810759	c.1335G>A	p.T445T	silent	C-term	Not Rett synd. - normal control	Silent polymorphism	U
5223	Maortua, ... Pubmed: 23810759	c.1335G>A	p.T445T	silent	C-term	Not Rett synd. - normal control	Silent polymorphism	U
2790	Pan, ... Pubmed: 17026625	c.1336-?_*?del	p.?	frameshift insertion or deletion	N-term/MBD/interdomain/TRD/NLS/C-term	Rett syndrome - classical	Mutation associated with disease	F
1716	Friez, ...	c.1338_1354del	p.A447fs	Frameshift insertion or deletion	C-term	Not known	Mutation associated with disease	F
3801	Takahashi, ... Pubmed: 18190595	c.1339G>A	p.A447T	missense	C-term	Rett syndrome - not certain	Polymorphism not causing disease	F
3802	Takahashi, ... Pubmed: 18190595	c.1339G>A	p.A447T	missense	C-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
4604	Piton, ... Pubmed: 20479760	c.1339G>A	p.A447T	missense	C-term	Not Rett synd. - schizophrenia	Polymorphism not causing disease	F
4605	Piton, ... Pubmed: 20479760	c.1339G>A	p.A447T	missense	C-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
5224	Maortua, ... Pubmed: 23810759	c.1339G>A	p.A447T	missense	C-term	Not Rett synd. - normal control	Polymorphism not causing disease	U
1650	Directly submitted	c.1340C>T	p.A447V	Missense	C-term	Rett syndrome - Not certain	Unknown	F
2388	Michele Zappella, ... Pubmed: 12707946	c.1357C>T	p.R453X	Nonsense	C-term	Rett syndrome - Preserved speech	Mutation associated with disease	F
4422	Das, ...	c.1357C>T	p.R453X	nonsense	C-term	Not known	Mutation associated with disease	F
1017	Couvert, ... Pubmed: 11309367	c.1358G>A	p.R453Q	Missense	C-term	Not Rett synd. - X-linked mental retardation	Unknown	M
6904	Directly submitted	c.1358G>A	p.Arg453Gln	missense	C-term	Not known	Unknown	F
4851	Psoni, ... Pubmed: 21982064	c.1363G>T	p.E455X	nonsense	C-term	Rett syndrome - classical	Mutation associated with disease	F
127	Huppke, ... Pubmed: 10814718	c.1364_1365insC	p.E455fs	Frameshift insertion or deletion	C-term	Rett syndrome - Congenital onset	Mutation associated with disease	F
2143	Cardiff, ...	c.1372C>T	p.R458C	Missense	C-term	Not known	Polymorphism not causing disease	F
2144	Cardiff, ...	c.1372C>T	p.R458C	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	M
3876	Rosser, ... Pubmed: 18810657	c.1373G>A	p.R458H	missense	c-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
6999	Qingping Zhang, ... Pubmed: 28394482	c.1373G>A		missense	C-term	Not Rett synd. - x-linked mental retardation	Unknown	M
7022	Huong Le Thi Thanh , ... Pubmed: 30081849	c.1384-1385del GT		frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
3784	Archer HL, ... Pubmed: 16183801	c.1396-?_1397+?del	p.?	exonic deletions	C-term	Rett syndrome - classical	Mutation associated with disease	F
3785	Archer HL, ... Pubmed: 16183801	c.1396-?_1397+?del	p.?	exonic deletions	C-term	Rett syndrome - classical	Mutation associated with disease	F
466	Directly submitted	c.1403_1408del6	p.R468_P469del	In-frame insertion or deletion	C-term	Rett syndrome - Classical	Unknown	F
2142	Cardiff, ...	c.1404G>A	p.R468R	Silent	C-term	Not known	Silent polymorphism	M
5251	Chapleau, ... Pubmed: 23696494	c.1408_1411del4insTG	p.N470Wfs*16	combined frameshift insertion and deletion	C-term	Rett syndrome - not certain	Mutation associated with disease	F
7005	Gabriel M. Ronen, ... Pubmed: 28089766	c.1410_1411delCA		frameshift insertion or deletion		Rett syndrome - atypical	Mutation associated with disease	M
7006	Gabriel M. Ronen, ... Pubmed: 28089766	c.1410_1411delCA		frameshift insertion or deletion		Rett syndrome - atypical	Mutation associated with disease	M
7007	Gabriel M. Ronen, ... Pubmed: 28089766	c.1410_1411delCA		frameshift insertion or deletion		Not Rett synd. - not certain	Mutation associated with disease	F
7008	Gabriel M. Ronen, ... Pubmed: 28089766	c.1410_1411delCA		frameshift insertion or deletion		Not Rett synd. - not certain	Mutation associated with disease	F
3019	Kleefstra T, ... Pubmed: 12081720	c.1415_1416delAG	p.E472fs	frameshift insertion ord deletion	C-term	Not Rett synd. - X-linked mental retardation	Mutation associated with disease	M
6901	Directly submitted	c.1417G>C	p.Glu485Gln	missense	C-term	Not Rett synd. - unaffected family member	Unknown	M
394	Directly submitted	c.1430G>C	p.S477T	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	M
395	Directly submitted	c.1430G>C	p.S477T	Missense	C-term	Not Rett synd. - Unaffected family member	Polymorphism not causing disease	F
2658	Lesca, ... Pubmed: 17383248	c.1430G>C	p.S477T	missense	C-term	Not Rett synd. - sporadic mental retardation	Polymorphism not causing disease	U
5225	Maortua, ... Pubmed: 23810759	c.1433G>A	p.R478Q	missense	C-term	Not Rett synd. - normal control	Polymorphism not causing disease	F
3949	Fukuda, ... Pubmed: 15737703	c.1436C>T	p.T479M	missense	C-term	Rett syndrome - NK	Polymorphism not causing disease	F
3950	Fukuda, ... Pubmed: 15737703	c.1436C>T	p.T479M	missense	C-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
3951	Fukuda, ... Pubmed: 15737703	c.1436C>T	p.T479M	missense	C-term	Not Rett synd. - non-Rett syndrome control	Polymorphism not causing disease	U
5061	Das, ... Pubmed: 23262346	c.1437G>A	p.T479T	silent	C-term	Rett syndrome - atypical	Silent polymorphism	F
3034	Yntema HG, ... Pubmed: 12111644	c.1438C>T	p.P480S	missense	C-term	Not Rett synd. - mental retardation	Polymorphism not causing disease	M
4060	Yntema HG, ... Pubmed: 12111644	c.1438C>T	p.P480S	missense	C-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
4061	Yntema HG, ... Pubmed: 12111644	c.1438C>T	p.P480S	missense	C-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	F
1637	Bunyan, ...	c.1441G>A	p.V481M	Missense	C-term	Rett syndrome - Not certain	Unknown	F
4899	Zvereff, ... Pubmed: 22277191	c.1441G>A	p.V481M	missense	C-term	Rett syndrome - classical	Unknown	F
1912	Directly submitted	c.1446C>T	p.T482T	Silent	C-term	Rett syndrome - Not certain	Silent polymorphism	F
6872	Daniela�Zahorakova, ... Pubmed: 26984561	c.1449G>A	p.E483=	Missense	C-term	Not Rett synd. - mental retardation	Polymorphism not causing disease	F
406	Directly submitted	c.1450_*12del24	p.V485_S486delins21	In-frame insertion or deletion	C-term	Rett syndrome - Atypical	Mutation associated with disease	F
3746	Fukuda, ... Pubmed: 15737703	c.1450_1453delAGAG	p.R484fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
4047	Yaron Y, ... Pubmed: 12325033	c.1451G>C	p.R484T	missense	C-term	Not Rett synd. - unaffected family member	Polymorphism not causing disease	M
4392	Khajuria, ...	c.1452_1453dup	p.V485fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
44	Hoffbuhr, ... Pubmed: 11402105	c.1454_1457del4	p.V485fs	Frameshift insertion or deletion	C-term	Rett syndrome - Not certain	Unknown	F
3324	Philippe C, ... Pubmed: 16473305	c.1454_1457del4	p.V485fs	frameshift insertion or deletion	C-term	Rett syndrome - not certain	Unknown	F
3914	Khajuria, ...	c.1455_1456dupTA	p.S486fs	frameshift insertion or deletion	C-term	Rett syndrome - classical	Mutation associated with disease	F
942	Bienvenu, ... Pubmed: 10814719	c.1461A>C	p.X487CextX27	Nonstop	C-term	Rett syndrome - Classical	Unknown	F
1700	Friez, ...	c.1461A>G	p.X487WextX27	Nonstop	C-term	Not known	Unknown	F

4806 records found.

RettBASE: RettSyndrome.org Variation Database

RettBASE: RettSyndrome.org
Variation Database