Entry IdShort CitationNucleotide changeAmino acid changeType of sequence changeDomain change locationPhenotypeMutation/polymorphismSex
6839Daniela Zahorakova, ...
Pubmed: 26984561
c.-395G>TIntronic variationMissense5'UTRNot Rett synd. - mental retardationPolymorphism not causing diseaseF
2551Harvey, ...
Pubmed: 17171659
c.-206_-205delGC5'UTR variation5'UTR variation5'UTRNot Rett synd. - non-specific mental retardationUnknownF
2552Harvey, ...
Pubmed: 17171659
c.-187_-186delAG5'UTR variation5'UTR variation5'UTRNot Rett synd. - non-specific mental retardationUnknownF
2553Harvey, ...
Pubmed: 17171659
c.-187_-186delinsTT5'UTR variation5'UTR variation5'UTRNot Rett synd. - non-specific mental retardationUnknownF
1820Bunyan, ...
c.-168-?_26+?delp.M1?exon deletionsN-termRett syndrome - Not certainMutation associated with diseaseF
1865Bunyan, ...
c.-168-?_26+?delp.M1?exon deletionsN-termRett syndrome - Not certainMutation associated with diseaseF
1980Jinxiu Shi, ...
Pubmed: 15841480
c.-168-?_*?delp.M1?Frameshift insertion or deletionN-termRett syndrome - ClassicalMutation associated with diseaseF
1971M Meins, ...
Pubmed: 15689435
c.-168-?_*?dupp.M1?In-frame insertion or deletionN-termNot Rett synd. - Sporadic mental retardationUnknownM
1972M Meins, ...
Pubmed: 15689435
c.-168-?_*?dupp.M1?In-frame insertion or deletionN-termNot Rett synd. - Unaffected family memberUnknownF
1982Van Esch H, ...
Pubmed: 16080119
c.-168-?_*?dupp.M1?In-frame insertion or deletionN-termNot Rett synd. - X-linked mental retardationUnknownM
1983Van Esch H, ...
Pubmed: 16080119
c.-168-?_*?dupp.M1?In-frame insertion or deletionN-termNot Rett synd. - X-linked mental retardationUnknownM
1984Van Esch H, ...
Pubmed: 16080119
c.-168-?_*?dupp.M1?In-frame insertion or deletionN-termNot Rett synd. - Sporadic mental retardationUnknownM
1985Van Esch H, ...
Pubmed: 16080119
c.-168-?_*?dupp.M1?In-frame insertion or deletionN-termNot Rett synd. - Unaffected family memberUnknownF
1986Van Esch H, ...
Pubmed: 16080119
c.-168-?_*?dupp.M1?In-frame insertion or deletionN-termNot Rett synd. - Unaffected family memberUnknownF
1987Van Esch H, ...
Pubmed: 16080119
c.-168-?_*?dupp.M1?In-frame insertion or deletionN-termNot Rett synd. - X-linked mental retardationUnknownM
1988Van Esch H, ...
Pubmed: 16080119
c.-168-?_*?dupp.M1?In-frame insertion or deletionN-termNot Rett synd. - X-linked mental retardationUnknownM
1989Van Esch H, ...
Pubmed: 16080119
c.-168-?_*?dupp.M1?In-frame insertion or deletionN-termNot Rett synd. - Unaffected family memberUnknownF
1990Van Esch H, ...
Pubmed: 16080119
c.-168-?_*?dupp.M1?In-frame insertion or deletionN-termNot Rett synd. - Unaffected family memberUnknownF
1991Van Esch H, ...
Pubmed: 16080119
c.-168-?_*?dupp.M1?In-frame insertion or deletionN-termNot Rett synd. - Unaffected family memberUnknownF
1992Van Esch H, ...
Pubmed: 16080119
c.-168-?_*?dupp.M1?In-frame insertion or deletionN-termNot Rett synd. - X-linked mental retardationUnknownM
1993Van Esch H, ...
Pubmed: 16080119
c.-168-?_*?dupp.M1?In-frame insertion or deletionN-termNot Rett synd. - X-linked mental retardationUnknownM
1994Van Esch H, ...
Pubmed: 16080119
c.-168-?_*?dupp.M1?In-frame insertion or deletionN-termNot Rett synd. - Unaffected family memberUnknownF
1995Van Esch H, ...
Pubmed: 16080119
c.-168-?_*?dupp.M1?In-frame insertion or deletionN-termNot Rett synd. - Unaffected family memberUnknownF
1996Van Esch H, ...
Pubmed: 16080119
c.-168-?_*?dupp.M1?In-frame insertion or deletionN-termNot Rett synd. - Unaffected family memberUnknownF
2073Cardiff, ...
c.-168-?_26+?delp.M1?exon deletionsN-termRett syndrome - ClassicalMutation associated with diseaseF
2075Cardiff, ...
c.-168-?_26+?delp.M1?exon deletionsN-termRett syndrome - AtypicalMutation associated with diseaseF
2076Cardiff, ...
c.-168-?_26+?delp.M1?exon deletionsN-termRett syndrome - ClassicalMutation associated with diseaseF
2498D Bartholdi, ...
Pubmed: 16630165
c.-168-?_26+?delp.M1?exon deletionsN-termRett syndrome - ClassicalMutation associated with diseaseF
2534Kirstine Ravn, ...
Pubmed: 15712379
c.-168-?_26+?delp.M1?exon deletionsN-termRett syndrome - ClassicalMutation associated with diseaseF
2760Quenard, ...
Pubmed: 16829352
c.-168-?_26+?delp.M1?large deletionN-termRett syndrome - classicalMutation associated with diseaseF
2761Quenard, ...
Pubmed: 16829352
c.-168-?_26+?delp.M1?large deletionN-termRett syndrome - classicalMutation associated with diseaseF
2762Quenard, ...
Pubmed: 16829352
c.-168-?_*?delp.M1?large deletionN-termRett syndrome - classicalMutation associated with diseaseF
2783Pan, ...
Pubmed: 17026625
c.-168-?_26+?delp.M1?exon deletionsN-termRett syndrome - classicalMutation associated with diseaseF
3611Li, ...
Pubmed: 17089071
c.-168-?_26+?delp.M1?exon deletionsN-termRett syndrome - not certainMutation associated with diseaseF
3769Archer HL, ...
Pubmed: 16183801
c.-168-?_26+?delp.M1?exon deletionsN-termRett syndrome - classicalMutation associated with diseaseF
3770Archer HL, ...
Pubmed: 16183801
c.-168-?_26+?delp.M1?exon deletionsN-termRett syndrome - classicalMutation associated with diseaseF
3771Archer HL, ...
Pubmed: 16183801
c.-168-?_26+?delp.M1?exon deletionsN-termRett syndrome - classicalMutation associated with diseaseF
4600Rajaei, ...
Pubmed: 21212452
c.-168-?_26+?del (deletion exons 1 and 2)p.M1?exon deletionsN-termRett syndrome - congenitalMutation associated with diseaseF
1916Boulanger, ...
c.-167_-99delMeCP2_e1: p.M1?frameshift insertion or deletionN-termRett syndrome - Not certainUnknownF
2074Cardiff, ...
c.-167_-99delMeCP2_e1: p.M1?frameshift insertion or deletionN-termRett syndrome - AtypicalUnknownF
2759Quenard, ...
Pubmed: 16829352
c.-167_-99delMeCP2_e1: p.M1?large deletionN-termRett syndrome - classicalMutation associated with diseaseF
2929Mnatzakanian, ...
Pubmed: 15034579
c.-167_-99delMeCP2_e1: p.M1?frameshift insertion or deletionN-termRett syndrome - not certainMutation associated with diseaseF
3768Archer HL, ...
Pubmed: 16183801
c.-167_-99delMeCP2_e1: p.M1?exonic deletionsN-termRett syndrome - atypicalMutation associated with diseaseF
5136Maortua, ...
Pubmed: 23810759
c.-167_-99delMeCP2_e1: p.M1?exonic deletionsN-termRett syndrome - atypicalMutation associated with diseaseF
3865Saunders, ...
Pubmed: 19365833
c.-160A>TMeCP2_e1: p.M1?missenseN-termRett syndrome - classicalUnknownF
3868Saunders, ...
Pubmed: 19365833
c.-160A>GMeCP2_e1: p.M1?missenseN-termRett syndrome - not certainUnknownF
6625Directly submitted
c.-160A>TMeCP2_e1: p.M1?missenseexon 1Rett syndrome - classicalMutation associated with diseaseF
6343Directly submitted
c.-159T>CMeCP2_e1: p.M1?missenseN-termRett syndrome - classicalMutation associated with diseaseF
3864Fichou, ...
Pubmed: 19034540
c.-156C>TMeCP2_e1: p.A2VmissenseN-termRett syndrome - classicalUnknownF
3867Saunders, ...
Pubmed: 19365833
c.-156C>TMeCP2_e1: p.A2VmissenseN-termRett syndrome - not certainUnknownF
6623Directly submitted
c.-156C>TMeCP2_e1: p.A2Vmissenseexon 1Rett syndrome - classicalMutation associated with diseaseF
6622Directly submitted
c.-156C>TMeCP2_e1: p.A2Vmissenseexon 1Not Rett synd. - mental retardationMutation associated with diseaseF
2554Harvey, ...
Pubmed: 17171659
c.-146_-138dup9MeCP2_e1: p.A6_A8dupin-frame insertion or deletionN-termNot Rett synd. - non-specific mental retardationUnknownF
2555Harvey, ...
Pubmed: 17171659
c.-146_-138dup9MeCP2_e1: p.A6_A8dupin-frame insertion or deletionN-termNot Rett synd. - non-specific mental retardationUnknownF
6627Directly submitted
c.-146_-138del9MeCP2_e1: p.A6_A8delin-frame insertion or deletionexon 1Not Rett synd. - unaffected family memberPolymorphism not causing diseaseF
6626Directly submitted
c.-146_-138del9MeCP2_e1: p.A6_A8delin-frame insertion or deletionexon 1Rett syndrome - classicalPolymorphism not causing diseaseF
2162Cardiff, ...
c.-143_-138dupMeCP2_e1: p.A7_A8dupIn-frame insertion or deletionN-termRett syndrome - AtypicalPolymorphism not causing diseaseF
2556Harvey, ...
Pubmed: 17171659
c.-143_-138del6MeCP2_e1: p.A7_A8delin-frame insertion or deletionN-termNot Rett synd. - non-specific mental retardationUnknownF
2758Quenard, ...
Pubmed: 16829352
c.-143_-138dupMeCP2_e1: p.A7_A8dupin-frame insertion or deletionN-termRett syndrome - atypicalPolymorphism not causing diseaseF
2912Evans, ...
Pubmed: 15367913
c.-143_-138dupMeCP2_e1: p.A7_A8dupin-frame insertion or deletionN-termRett syndrome - classicalPolymorphism not causing diseaseF
3987Quenard, ...
Pubmed: 16829352
c.-143_-138dupMeCP2_e1: p.A7_A8dupin-frame insertion or deletionN-termNot Rett synd. - seizures at adolescencePolymorphism not causing diseaseF
5113Directly submitted
c.-143_-138dupMeCP2_e1: p.A7_A8dupin-frame insertion or deletionN-termNot knownPolymorphism not causing diseaseF
5114Directly submitted
c.-143_-138dupMeCP2_e1: p.A7_A8dupin-frame insertion or deletionN-termNot Rett synd. - unaffected family memberPolymorphism not causing diseaseM
6844Daniela Zahorakova, ...
Pubmed: 26984561
c.-143_-138dup6MeCP2_e1: p.A7_A8dupin-frame insertion or deletion5'UTRNot Rett synd. - autismPolymorphism not causing diseaseF
6843Daniela Zahorakova, ...
Pubmed: 26984561
c.-143_-138dup6MeCP2_e1: p.A7_A8dupin-frame insertion or deletion5'UTRNot Rett synd. - mental retardationPolymorphism not causing diseaseF
6842Daniela Zahorakova, ...
Pubmed: 26984561
c.-143_-138dup6MeCP2_e1: p.A7_A8dupin-frame insertion or deletion5'UTRRett syndrome - atypicalPolymorphism not causing diseaseF
6841Daniela Zahorakova, ...
Pubmed: 26984561
c.-143_-138dup6MeCP2_e1: p.A7_A8dupin-frame insertion or deletion5'UTRRett syndrome - atypicalPolymorphism not causing diseaseF
6840Daniela Zahorakova, ...
Pubmed: 26984561
c.-143_-138dup6MeCP2_e1: p.A7_A8dupin-frame insertion or deletion5'UTRNot Rett synd. - mental retardationPolymorphism not causing diseaseM
2163Cardiff, ...
c.-140_-138dup3MeCP2_e1: p.A8dupIn-frame insertion or deletionN-termNot knownUnknownF
2802Ravn, ...
Pubmed: 15857422
c.-138_-134dupCGCCGMeCP2_e1: p.S10RfsX37frameshift insertion or deletionN-termRett syndrome - classicalMutation associated with diseaseF
6993Narumi Tokaji, ...
Pubmed: 29341476
c.-138_-134dup frameshift insertion or deletionN-termRett syndrome - classicalMutation associated with diseaseM
2497D Bartholdi, ...
Pubmed: 16630165
c.-131delinsGAMeCP2_e1: p.S10fsframeshift combined insertion and deletionN-termRett syndrome - ClassicalMutation associated with diseaseF
3595Li, ...
Pubmed: 17089071
c.-119_-114dupAGGAGGMeCP2_e1: p.G15_G16dupin-frame insertion or deletionN-termRett syndrome - not certainUnknownF
2004Bradford Coffee
c.-116_-114dupAGGMeCP2_e1: p.G16dupIn-frame insertion or deletionN-termNot knownPolymorphism not causing diseaseF
2005Bradford Coffee
c.-116_-114dupAGGMeCP2_e1: p.G16dupIn-frame insertion or deletionN-termNot Rett synd. - Unaffected family memberPolymorphism not causing diseaseF
2006Bradford Coffee
c.-116_-114dupAGGMeCP2_e1: p.G16dupIn-frame insertion or deletionN-termNot Rett synd. - Unaffected family memberPolymorphism not causing diseaseM
2557Harvey, ...
Pubmed: 17171659
c.-116_-114dupAGGMeCP2_e1: p.G16dupin-frame insertion or deletionN-termNot Rett synd. - non-specific mental retardationPolymorphism not causing diseaseF
2558Harvey, ...
Pubmed: 17171659
c.-116_-114dupAGGMeCP2_e1: p.G16dupin-frame insertion or deletionN-termNot Rett synd. - non-specific mental retardationPolymorphism not causing diseaseF
2559Harvey, ...
Pubmed: 17171659
c.-116_-114dupAGGMeCP2_e1: p.G16dupin-frame insertion or deletionN-termNot Rett synd. - non-specific mental retardationPolymorphism not causing diseaseF
2560Harvey, ...
Pubmed: 17171659
c.-116_-114dupAGGMeCP2_e1: p.G16dupin-frame insertion or deletionN-termNot Rett synd. - non-specific mental retardationPolymorphism not causing diseaseF
2561Harvey, ...
Pubmed: 17171659
c.-116_-114dupAGGMeCP2_e1: p.G16dupin-frame insertion or deletionN-termNot Rett synd. - non-specific mental retardationPolymorphism not causing diseaseF
2562Harvey, ...
Pubmed: 17171659
c.-116_-114dupAGGMeCP2_e1: p.G16dupin-frame insertion or deletionN-termNot Rett synd. - non-specific mental retardationPolymorphism not causing diseaseF
3915Harvey, ...
Pubmed: 17171659
c.-116_-114dupAGGMeCP2_e1: p.G16dupin-frame insertion or deletionN-termNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseF
3916Harvey, ...
Pubmed: 17171659
c.-116_-114dupAGGMeCP2_e1: p.G16dupin-frame insertion or deletionN-termNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseF
3917Harvey, ...
Pubmed: 17171659
c.-116_-114dupAGGMeCP2_e1: p.G16dupin-frame insertion or deletionN-termNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseF
4822Corbani, ...
Pubmed: 21954873
c.-116_-114dupAGGMeCP2_e1: p.G16dupin-frame insertion or deletionN-termNot Rett synd. - not certainPolymorphism not causing diseaseF
6345Directly submitted
c.-116_-114dupAGGMeCP2_e1: p.G16dupin-frame insertion or deletionN-termNot Rett synd. - unaffected family memberPolymorphism not causing diseaseF
6344Directly submitted
c.-116_-114dupAGGMeCP2_e1: p.G16dupin-frame insertion or deletionN-termRett syndrome - classicalPolymorphism not causing diseaseF
6845Daniela Zahorakova, ...
Pubmed: 26984561
c.-116_-114dupAGGMeCP2_e1: p.G16dup in-frame insertion or deletionN-termNot Rett synd. - mental retardationPolymorphism not causing diseaseF
6899Directly submitted
c.-116_-114dupp.Gly16dupin-frame insertion or deletionN-termNot knownPolymorphism not causing diseaseM
2801Amir, ...
Pubmed: 15689438
c.-114_-104del11MeCP2_e1: p.G16EfsX22frameshift insertion or deletionN-termRett syndrome - atypicalMutation associated with diseaseF
2803Ravn, ...
Pubmed: 15857422
c.-114_-104del11MeCP2_e1: p.G16EfsX22frameshift insertion or deletionN-termRett syndrome - classicalMutation associated with diseaseF
2916Saxena, ...
Pubmed: 16155192
c.-114_-104del11MeCP2_e1: p.G16EfsX22frameshift insertion or deletionN-termRett syndrome - atypicalMutation associated with diseaseF
2928Mnatzakanian, ...
Pubmed: 15034579
c.-114_-104del11MeCP2_e1: p.G16EfsX22frameshift insertion or deletionN-termRett syndrome - not certainMutation associated with diseaseF
4445Das, ...
c.-114_-104del11MeCP2_e1: p.G16EfsX22frameshift insertion or deletionN-termNot knownMutation associated with diseaseF
4446Das, ...
c.-114_-104del11MeCP2_e1: p.G16EfsX22frameshift insertion or deletionN-termNot knownMutation associated with diseaseM
5121Maortua, ...
Pubmed: 23810759
c.-114_-104del11MeCP2_e1: p.G16EfsX22frameshift insertion or deletionN-termRett syndrome - classicalMutation associated with diseaseF
6628Directly submitted
c.-114_-104del11MeCP2_e1: p.G16EfsX22frameshift insertion or deletionexon 1Not Rett synd. - mental retardationMutation associated with diseaseF
6624Directly submitted
c.-114_-104dup11MeCP2_e1: p.R20AfsX28frameshift insertion or deletionexon 1Rett syndrome - classicalMutation associated with diseaseF
2756Quenard, ...
Pubmed: 16829352
c.-113_-106dupMeCP2_e1: p.G19AfsX28frameshift insertion or deletionN-termRett syndrome - classicalMutation associated with diseaseF
5122Maortua, ...
Pubmed: 23810759
c.-113_-106del8MeCP2_e1: p.E18TfsX21frameshift insertion or deletionN-termNot Rett synd. - Rett-likeMutation associated with diseaseF
5233Sheikh, ...
Pubmed: 23866855
c.-113C>TMeCP2_e1: p.Glu17Lysfs*22splicingN-termRett syndrome - classicalMutation associated with diseaseF
2563Harvey, ...
Pubmed: 17171659
c.-112G>AMeCP2_e1: p.E17KmissenseN-termNot Rett synd. - non-specific mental retardationUnknownF
2781Chunshu, ...
Pubmed: 17101000
c.-102_-101delGAMeCP2_e1: p.R20TfsX40frameshift insertion or deletionN-termRett syndrome - classicalMutation associated with diseaseF
3866Saunders, ...
Pubmed: 19365833
c.-99+2_-99+3delTGintronic variationintronic variationintronicRett syndrome - classicalMutation associated with diseaseF
2757Quenard, ...
Pubmed: 16829352
c.-99+2_-99+3delTGintronic variationintronic variationintronicRett syndrome - classicalMutation associated with diseaseF
2800Amir, ...
Pubmed: 15689438
c.-99+2_-99+3delTGintronic variationintronic variationintronicRett syndrome - classicalMutation associated with diseaseF
3762Fukuda, ...
Pubmed: 15737703
c.-99+1G>Aintronic variationintronic variationintronicRett syndrome - classicalUnknownF
5327Directly submitted
c.-99+2_30delTGIntronic variationFrameshift deletionN-termRett syndrome - male variantMutation associated with diseaseM
2975Kammoun, ...
Pubmed: 15173251
c.-98-?_377+?del (deletion of exons 2 and 3)p.M1?frameshift insertion or deletionN-termRett syndrome - atypicalMutation associated with diseaseF
951Bienvenu, ...
Pubmed: 10814719
c.-15C>T5'UTR variation5'UTR variation5'UTRNot Rett synd. - Unaffected family memberUnknownF
950Bienvenu, ...
Pubmed: 10814719
c.-15C>T5'UTR variation5'UTR variation5'UTRRett syndrome - ClassicalUnknownF
9Bunyan, ...
uncertainp.I314ISilentC-termRett syndrome - Not certainSilent polymorphismF
37Hoffbuhr, ...
Pubmed: 11402105
c.[1038_1119del82; 1169_1339del171ins137]p.S346fsFrameshift insertion or deletionC-termRett syndrome - Not certainMutation associated with diseaseF
48Hoffbuhr, ...
Pubmed: 11402105
c.*487G>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - unaffected family memberPolymorphism not causing diseaseM
122Huppke, ...
Pubmed: 10814718
c.[965C>T(;)999G>T]p.[P322L(;)G333G]Missense, silentC-termRett syndrome - Not certainUnknownF
128Amano, ...
Pubmed: 10944854
c.[880C>T];[1326C>T]p.[R294X];[T442T]Nonsense, silentTRD, C-termRett syndrome - Not certainMutation associated with diseaseU
129Amano, ...
Pubmed: 10944854
c.[502C>T];[695G>C]p.[R168X];[G232A]Nonsense, missenseInter-domain region, TRDRett syndrome - Not certainMutation associated with diseaseU
131Amano, ...
Pubmed: 10944854
c.[752C>T];[1038_1191del154]p.[P251L];[S346fs]Missense, frameshift insertion or deletionTRD, C-termRett syndrome - Not certainMutation associated with diseaseU
132Amano, ...
Pubmed: 10944854
c.[502C>T];[695G>C]p.[R168X];[G232A]Nonsense, missenseInter-domain region, TRDRett syndrome - Not certainMutation associated with diseaseU
134Amano, ...
Pubmed: 10944854
c.[502C>T];[695G>C]p.[R168X];[G232A]Nonsense, missenseInter-domain region, TRDRett syndrome - Not certainMutation associated with diseaseU
325Auranen, ...
Pubmed: 11245712
not certainp.L386fsNot knownC-termRett syndrome - ClassicalMutation associated with diseaseF
326Auranen, ...
Pubmed: 11245712
not certainp.L386fsNot knownC-termRett syndrome - ClassicalMutation associated with diseaseF
327Auranen, ...
Pubmed: 11245712
not certainp.L386fsNot knownC-termRett syndrome - ClassicalMutation associated with diseaseF
328Auranen, ...
Pubmed: 11245712
not certainp.L386fsNot knownC-termRett syndrome - ClassicalMutation associated with diseaseF
374Directly submitted
c.[590C>T(;)674C>T]p.[T197M(;)P225R]MissenseInter-domain region, TRDRett syndrome - AtypicalMutation associated with diseaseF
381Directly submitted
c.*93G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - Non Rett syndrome controlPolymorphism not causing diseaseU
384Directly submitted
c.[1157_1197del41; 1232_1240del9]p.L386fsFrameshift insertion or deletionC-termRett syndrome - ClassicalMutation associated with diseaseF
396Directly submitted
c.[880C>T(;)1430G>C]p.[R294X(;)S477T]NonsenseTRDRett syndrome - AtypicalMutation associated with diseaseF
423Directly submitted
c.[1104C>T; 1107_1327del221]p.[H368H;H370fs]Silent, frameshift insertion or deletionC-termRett syndrome - AtypicalMutation associated with diseaseF
435Directly submitted
c.[897C>T(;)1155_1200del46]p.[T299T(;)L386fs]Silent, frameshift insertion or deletionTRD, C-termRett syndrome - AtypicalMutation associated with diseaseF
438Directly submitted
c.[473C>T];[1189G>A]p.[T158M];[E397K]MissenseMBD, C-termRett syndrome - AtypicalMutation associated with diseaseF
440Directly submitted
c.[397C>T(;)438C>T]p.[R133C(;)G146G]Missense, silentMBDRett syndrome - ClassicalMutation associated with diseaseF
441Directly submitted
c.[819G>T(;)1161C>T]p.[G273G(;)P387P]SilentTRD, C-termRett syndrome - AtypicalSilent polymorphismF
445Directly submitted
c.*8C>T3'UTR variation3'UTR variation3'UTRNot Rett synd. - Unaffected family memberPolymorphism not causing diseaseM
446Directly submitted
c.[806delG(;) *8C>T]p.G269fsframeshift insertion or deletion, 3'UTR variationTRD-NLS, 3'UTRRett syndrome - ClassicalMutation associated with diseaseF
449Directly submitted
c.*8C>T3'UTR variation3'UTR variation3'UTRNot Rett synd. - Unaffected family memberPolymorphism not causing diseaseF
454Directly submitted
c.[808C>T(;) 1233C>T]p.[R270X(;) S411S]nonsense, silentTRD-NLS, C-termRett syndrome - ClassicalMutation associated with diseaseF
473Directly submitted
c.[916C>T(;)984C>T]p.[R306C(;)L328L]Missense, silentTRD, C-termRett syndrome - ClassicalMutation associated with diseaseF
475Directly submitted
c.[608C>T(;)763C>T]p.[T203M(;)R255X]Missense, nonsenseinter-domain region, TRDRett syndrome - ClassicalMutation associated with diseaseF
855Xiang, ...
Pubmed: 10745042
c.[1053_1054ins10; 1145_1199del55]p.K352fsin-frame combined insertion and deletionC-termRett syndrome - Not certainMutation associated with diseaseU
852Xiang, ...
Pubmed: 10745042
c.[1103_1172del; 1185_1191del]p.H368fsFrameshift insertion or deletionC-termRett syndrome - Not certainMutation associated with diseaseU
1116Buyse, ...
Pubmed: 11055898
c.[965_970del6; 1029dupG; 1138_1208del71]p.[P322_L323del; R344fs]In-frame insertion or deletion, frameshift insertion or deletionC-termRett syndrome - Not certainMutation associated with diseaseF
1117Buyse, ...
Pubmed: 11055898
c.[1118_1300del183ins61];[1157_1197del41]p.[S373fs];[L386fs]frameshift combined insertion and deletionC-termRett syndrome - Not certainMutation associated with diseaseF
1118Buyse, ...
Pubmed: 11055898
c.[1161_1166del6; 1180_1205del26] p.[P390_P391del;E394Pfs*2]In-frame insertion or deletion, frameshift insertion or deletionC-termRett syndrome - Not certainMutation associated with diseaseF
1120Buyse, ...
Pubmed: 11055898
c.[1163_1173del11; 1176_1193del18]p.P388fsFrameshift insertion or deletionC-termRett syndrome - Not certainMutation associated with diseaseF
1182Armstrong, ...
Pubmed: 11706982
c.[=/398G>A]p.[=/R133H]MissenseMBDRett syndrome - Male variantUnknownM
1204Bienvenu, ...
Pubmed: 11524737
c.[=/167_168delCC]p.[=/P56fs]Frameshift insertion or deletionC-termNot Rett synd. - not certainMutation associated with diseaseU
1235Erlandson, ...
Pubmed: 11469283
c.[763C>T(;)1449G>C]p.[R255X(;)E483D]NonsenseTRD, C-termRett syndrome - ClassicalMutation associated with diseaseF
1236Erlandson, ...
Pubmed: 11469283
c.[802C>T(;) 808C>T]p.[R268W(;) R270X]Missense, nonsenseTRD-NLSRett syndrome - ClassicalMutation associated with diseaseF
1237Erlandson, ...
Pubmed: 11469283
c.[750C>T(;)1459T>C]p.[R250R(;)X487Rext27]Silent, nonstopTRD, C-termRett syndrome - ClassicalUnknownF
1386Lam, ...
Pubmed: 11106359
c.*9G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - autism onlyPolymorphism not causing diseaseF
1434Schwartzman, ...
Pubmed: 11521215
c.[423C>G];[=]p.[Y141X];[=]NonsenseMBDRett syndrome - Male variantMutation associated with diseaseM
1528Yamada, ...
Pubmed: 11524741
c.[881_1169del289; 1189_1196del8]p.R294_D398delinsHLSPRAIn-frame insertion or deletion, frameshift insertion or deletionTRD, C-termRett syndrome - classicalMutation associated with diseaseU
1541Bourdon, ...
Pubmed: 11214906
c.*9G>A3'UTR variation3'UTR variation3'UTRRett syndrome - Not certainPolymorphism not causing diseaseU
1567Beyer, ...
Pubmed: 12384770
c.[984C>T; 1161_1163del]p.[L328L; P391del]Silent, in-frame insertion or deletionC-termNot Rett synd. - autism onlyPolymorphism not causing diseaseF
1568Beyer, ...
Pubmed: 12384770
c.[984C>T; 1161_1163del]p.[L328L; P391del]Silent, in-frame insertion or deletionC-termNot Rett synd. - Unaffected family memberPolymorphism not causing diseaseF
1569Beyer, ...
Pubmed: 12384770
c.[984C>T; 1161_1163del]p.[L328L; P391del]Silent, in-frame insertion or deletionC-termNot Rett synd. - Unaffected family memberPolymorphism not causing diseaseM
1571Beyer, ...
Pubmed: 12384770
c.[1126C>T];[1126C>T]p.[P376S];[P376S]MissenseC-termNot Rett synd. - autism onlyPolymorphism not causing diseaseF
1603Bunyan, ...
c.[1125_1137del13; 1138_1263inv; 1158_1201del; 1263_1264insGGA]p.P376fsFrameshift combined insertion and deletionC-termRett syndrome - Not certainMutation associated with diseaseF
1830Bunyan, ...
c.[763C>T(;)1071C>T]p.[R255X(;)S357S]Nonsense, silentTRD, C-termRett syndrome - Not certainMutation associated with diseaseF
1845Bunyan, ...
c.[777C>T(;)1157_1197del41]p.[A259A(;)L386fs]Silent, frameshift insertion or deletionTRD-NLS, C-termRett syndrome - Not certainMutation associated with diseaseF
1875Bunyan, ...
c.[609G>A(;)905C>T]p.[T203T(;)P302L]Silent, missenseInter-domain region, TRDRett syndrome - Not certainUnknownF
1913Directly submitted
c.*98dupA3'UTR variation3'UTR variation3'UTRRett syndrome - Not certainPolymorphism not causing diseaseF
1914Directly submitted
c.*98dupA3'UTR variation3'UTR variation3'UTRNot Rett synd. - Unaffected family memberPolymorphism not causing diseaseM
1915Directly submitted
c.*122delT3'UTR variation3'UTR variation3'UTRRett syndrome - Not certainUnknownF
1978Tero Ylisaukko-oja, ...
Pubmed: 15578581
c.*93G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - Sporadic mental retardationPolymorphism not causing diseaseM
1979Tero Ylisaukko-oja, ...
Pubmed: 15578581
c.[378-61C>G; *93G>A]intronic variation and 3'UTR variationIntronic variation, 3'UTR variationIntronic, 3'UTRNot Rett synd. - Sporadic mental retardationUnknownM
2002Konrad Oexle, ...
c.[992_994delAGA; 1029delG; 1061G>T; 1167_1200del34]p.[K331del; R344fs]In-frame insertion or deletion, frameshift insertion or deletionC-termNot knownMutation associated with diseaseF
2025Directly submitted
c.[397C>T(;)1061G>T]p.[R133C(;)R354L]MissenseMBD, C-termNot knownMutation associated with diseaseF
2029Directly submitted
c.[377+22C>G; 378-74C>T]intronic variationIntronic variationIntronicNot knownPolymorphism not causing diseaseF
2041Directly submitted
c.[880C>T(;)*9G>A]p.R294X, 3'UTR variationNonsense, 3'UTR variationTRD, 3'UTRNot knownMutation associated with diseaseF
2045Directly submitted
c.[377+22C>G(;)378-74C>T]intronic variationIntronic variationIntronicNot knownPolymorphism not causing diseaseF
2053Directly submitted
c.[378-74C>T;602C>T];[378-74C>T]p.[A201V];[=]Intronic variation, missenseIntronic, inter-domain regionNot Rett synd. - Unaffected family memberPolymorphism not causing diseaseF
2055Directly submitted
c.[1189G>A(;)*55C>G]p.E397K, 3'UTR variationMissense, 3'UTR variationC-term, 3'UTRNot knownPolymorphism not causing diseaseF
2070Cardiff, ...
complex rearrangementcomplex rearrangementNot knownNot knownRett syndrome - ClassicalUnknownF
2083Cardiff, ...
c.(378_1461)_(378_1461)delp.(N126+S486)fsFrameshift insertion or deletionNot knownRett syndrome - ClassicalMutation associated with diseaseF
2084Cardiff, ...
c.(378_1461)_(378_1461)delp.(N126+S486)fsFrameshift insertion or deletionNot knownRett syndrome - ClassicalMutation associated with diseaseF
2085Cardiff, ...
c.(378_1461)_(378_1461)delp.(N126+S486)fsFrameshift insertion or deletionNot knownRett syndrome - AtypicalMutation associated with diseaseF
2086Cardiff, ...
c.(378_1461)_(378_1461)delp.(N126+S486)fsFrameshift insertion or deletionNot knownRett syndrome - ClassicalMutation associated with diseaseF
2087Cardiff, ...
c.(378_1461)_(378_1461)delp.(N126+S486)fsFrameshift insertion or deletionNot knownRett syndrome - Not certainMutation associated with diseaseF
2118Cardiff, ...
c.*98dupA3'UTR variation3'UTR variation3'UTRNot knownPolymorphism not causing diseaseF
2119Cardiff, ...
c.*98dupA3'UTR variation3'UTR variation3'UTRNot Rett synd. - Unaffected family memberPolymorphism not causing diseaseF
2120Cardiff, ...
c.*98dupA3'UTR variation3'UTR variation3'UTRNot knownPolymorphism not causing diseaseF
2121Cardiff, ...
c.*98dupA3'UTR variation3'UTR variation3'UTRNot Rett synd. - Unaffected family memberPolymorphism not causing diseaseF
2206Cardiff, ...
c.[316C>T(;)917G>T(;)1061G>A]p.[R106W(;)R306L(;)R354H]MissenseMBD, TRD, C-termRett syndrome - Not certainMutation associated with diseaseF
2225Cardiff, ...
c.[397C>T; 1164_1207del44]p.[R133C; P389X]Missense, frameshift insertion or deletionMBD, C-termRett syndrome - AtypicalMutation associated with diseaseF
2246Cardiff, ...
c.[502C>T(;)897C>T]p.[R168X(;)T299T]Nonsense, silentInter-domain region, TRDRett syndrome - ClassicalMutation associated with diseaseF
2337Cardiff, ...
Not knownp.S373XNonsenseC-termRett syndrome - AtypicalMutation associated with diseaseF
2370Akane Shibayama, ...
Pubmed: 15211631
c.*98dupA3'UTR variation3'UTR variation3'UTRNot Rett synd. - ADHDPolymorphism not causing diseaseM
2371Akane Shibayama, ...
Pubmed: 15211631
c.*177G>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - autism onlyUnknownF
2372Akane Shibayama, ...
Pubmed: 15211631
c.*177G>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - Unaffected family memberUnknownF
2373Akane Shibayama, ...
Pubmed: 15211631
c.*5348T>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - autism onlyUnknownM
2374Akane Shibayama, ...
Pubmed: 15211631
c.*5348T>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - Unaffected family memberUnknownF
2390Michele Zappella, ...
Pubmed: 12707946
c.[1202G>A];[1202G>A]p.[S401N];[S401N]MissenseC-termNot Rett synd. - autism onlyPolymorphism not causing diseaseF
2453Directly submitted
c.[763C>T(;)1233C>T]p.[R255X(;)S411S]Nonsense, silentTRD, C-termRett syndrome - ClassicalMutation associated with diseaseF
2455Directly submitted
c.[502C>T(;)750C>A]p.[R168X(;)R250R]Nonsense, silentInter-domain region, TRDRett syndrome - ClassicalMutation associated with diseaseF
2460Directly submitted
c.[710G>T(;)763C>T]p.[G237V(;)R255X]missense, nonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2494Tjitske Kleefstra, ...
Pubmed: 14560307
c.*36G>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - Angelman syndromePolymorphism not causing diseaseF
2499D Bartholdi, ...
Pubmed: 16630165
c.(378_1461)_(378_1461)delp.(N126+S486)fsFrameshift insertion or deletionNot knownRett syndrome - AtypicalMutation associated with diseaseF
2527Tejada M-I, ...
Pubmed: 16879196
c.*98dupA3'UTR variation3'UTR variation3'UTRNot Rett synd. - Sporadic mental retardationPolymorphism not causing diseaseF
2528Tejada M-I, ...
Pubmed: 16879196
c.*98dupA3'UTR variation3'UTR variation3'UTRNot Rett synd. - Sporadic mental retardationPolymorphism not causing diseaseF
2544Matijevic, ...
Pubmed: 17341617
c.[1132_1159del28;1167_1176del10];[1132_1159del28;1167_1176del10]p.[A378fs];[A378fs]frameshift insertion or deletionC-termRett syndrome - not certainMutation associated with diseaseF
2545Matijevic, ...
Pubmed: 17341617
c.[1148_1177del30];[1148_1177del30]p.[L383_E392del];[L383_E392del]inframe insertion or deletionC-termRett syndrome - not certainMutation associated with diseaseF
2621Zahorakova, ...
Pubmed: 17387578
c.[1063_1188del126; 1189_1231inv; 1232_1236del5]p.S355fsframeshift insertion or deletionc-termRett syndrome - ClassicalMutation associated with diseaseF
2638Zahorakova, ...
Pubmed: 17387578
c.*92C>T3'UTR variation3'UTR variation3'UTRRett syndrome - ClassicalPolymorphism not causing diseaseF
2639Zahorakova, ...
Pubmed: 17387578
c.*328G>A3'UTR variation3'UTR variation3'UTRRett syndrome - ClassicalPolymorphism not causing diseaseF
2640Zahorakova, ...
Pubmed: 17387578
c.*328G>A3'UTR variation3'UTR variation3'UTRRett syndrome - ClassicalPolymorphism not causing diseaseF
2641Zahorakova, ...
Pubmed: 17387578
c.*359G>C3'UTR variation3'UTR variation3'UTRRett syndrome - ClassicalPolymorphism not causing diseaseF
2643Zahorakova, ...
Pubmed: 17387578
c.*363G>C3'UTR variation3'UTR variation3'UTRRett syndrome - ClassicalPolymorphism not causing diseaseF
2674Coutinho, ...
Pubmed: 17427193
c.*9G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2675Coutinho, ...
Pubmed: 17427193
c.*93G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2676Coutinho, ...
Pubmed: 17427193
c.*204G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismUnknownM
2677Coutinho, ...
Pubmed: 17427193
c.*371G>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismUnknownM
2678Coutinho, ...
Pubmed: 17427193
c.*544G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismUnknownU
2679Coutinho, ...
Pubmed: 17427193
c.*554G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismUnknownM
2680Coutinho, ...
Pubmed: 17427193
c.*767G>T3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismUnknownU
2681Coutinho, ...
Pubmed: 17427193
c.*861T>G3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismUnknownM
2682Coutinho, ...
Pubmed: 17427193
c.*878C>G3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2683Coutinho, ...
Pubmed: 17427193
c.*878C>G3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2684Coutinho, ...
Pubmed: 17427193
c.*878C>G3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2685Coutinho, ...
Pubmed: 17427193
c.*878C>G3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2686Coutinho, ...
Pubmed: 17427193
c.*878C>G3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2687Coutinho, ...
Pubmed: 17427193
c.*878C>G3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2688Coutinho, ...
Pubmed: 17427193
c.*878C>G3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2689Coutinho, ...
Pubmed: 17427193
c.*878C>G3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2690Coutinho, ...
Pubmed: 17427193
c.*878C>G3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2691Coutinho, ...
Pubmed: 17427193
c.*878C>G3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2692Coutinho, ...
Pubmed: 17427193
c.*878C>G3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2693Coutinho, ...
Pubmed: 17427193
c.*878C>G3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2694Coutinho, ...
Pubmed: 17427193
c.*878C>G3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2695Coutinho, ...
Pubmed: 17427193
c.*878C>G3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2696Coutinho, ...
Pubmed: 17427193
c.*878C>G3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2697Coutinho, ...
Pubmed: 17427193
c.*1368C>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismUnknownM
2698Coutinho, ...
Pubmed: 17427193
c.*1737G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2699Coutinho, ...
Pubmed: 17427193
c.*1737G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2700Coutinho, ...
Pubmed: 17427193
c.*1737G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2701Coutinho, ...
Pubmed: 17427193
c.*1737G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2702Coutinho, ...
Pubmed: 17427193
c.*1737G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2703Coutinho, ...
Pubmed: 17427193
c.*1737G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2704Coutinho, ...
Pubmed: 17427193
c.*1737G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2705Coutinho, ...
Pubmed: 17427193
c.*1737G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2706Coutinho, ...
Pubmed: 17427193
c.*2556T>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismUnknownM
2707Coutinho, ...
Pubmed: 17427193
c.*2657G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismUnknownU
2708Coutinho, ...
Pubmed: 17427193
c.*2706G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismUnknownF
2709Coutinho, ...
Pubmed: 17427193
c.*2956G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismUnknownM
2710Coutinho, ...
Pubmed: 17427193
c.*3477G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2711Coutinho, ...
Pubmed: 17427193
c.*3477G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2712Coutinho, ...
Pubmed: 17427193
c.*3658C>T3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismUnknownU
2713Coutinho, ...
Pubmed: 17427193
c.*3878G>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2714Coutinho, ...
Pubmed: 17427193
c.*4576A>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2715Coutinho, ...
Pubmed: 17427193
c.*5486_*5487dupAT3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2716Coutinho, ...
Pubmed: 17427193
c.*7748C>T3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2717Coutinho, ...
Pubmed: 17427193
c.*7856A>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2718Coutinho, ...
Pubmed: 17427193
c.*7856A>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2719Coutinho, ...
Pubmed: 17427193
c.*7856A>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2720Coutinho, ...
Pubmed: 17427193
c.*7856A>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2721Coutinho, ...
Pubmed: 17427193
c.*7856A>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2722Coutinho, ...
Pubmed: 17427193
c.*7856A>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2723Coutinho, ...
Pubmed: 17427193
c.*7856A>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2724Coutinho, ...
Pubmed: 17427193
c.*7856A>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2725Coutinho, ...
Pubmed: 17427193
c.*7856A>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2726Coutinho, ...
Pubmed: 17427193
c.*7856A>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2727Coutinho, ...
Pubmed: 17427193
c.*7856A>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2728Coutinho, ...
Pubmed: 17427193
c.*7856A>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2729Coutinho, ...
Pubmed: 17427193
c.*7856A>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2730Coutinho, ...
Pubmed: 17427193
c.*8503delC3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2731Coutinho, ...
Pubmed: 17427193
c.*8503delC3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2732Coutinho, ...
Pubmed: 17427193
c.*8503delC3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2733Coutinho, ...
Pubmed: 17427193
c.*8503delC3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2734Coutinho, ...
Pubmed: 17427193
c.*8503delC3'UTR variation3'UTR variation3'UTRNot Rett synd. - AutismPolymorphism not causing diseaseU
2735Coutinho, ...
Pubmed: 17427193
c.*393G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - Non-Rett syndrome controlPolymorphism not causing diseaseU
2736Coutinho, ...
Pubmed: 17427193
c.*489G>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - Non-Rett syndrome controlPolymorphism not causing diseaseU
2737Coutinho, ...
Pubmed: 17427193
c.*529G>T3'UTR variation3'UTR variation3'UTRNot Rett synd. - Non-Rett syndrome controlPolymorphism not causing diseaseU
2738Coutinho, ...
Pubmed: 17427193
c.*806G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - Non-Rett syndrome controlPolymorphism not causing diseaseU
2739Coutinho, ...
Pubmed: 17427193
c.*831G>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - Non-Rett syndrome controlPolymorphism not causing diseaseU
2740Coutinho, ...
Pubmed: 17427193
c.*875dupA3'UTR variation3'UTR variation3'UTRNot Rett synd. - Non-Rett syndrome controlPolymorphism not causing diseaseU
2741Coutinho, ...
Pubmed: 17427193
c.*1237T>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - Non-Rett syndrome controlPolymorphism not causing diseaseU
2742Coutinho, ...
Pubmed: 17427193
c.*3662A>G3'UTR variation3'UTR variation3'UTRNot Rett synd. - Non-Rett syndrome controlPolymorphism not causing diseaseU
2743Coutinho, ...
Pubmed: 17427193
c.*4086_*4087delGT3'UTR variation3'UTR variation3'UTRNot Rett synd. - Non-Rett syndrome controlPolymorphism not causing diseaseU
2744Coutinho, ...
Pubmed: 17427193
c.*5839C>T3'UTR variation3'UTR variation3'UTRNot Rett synd. - Non-Rett syndrome controlPolymorphism not causing diseaseU
2811Kim, ...
Pubmed: 16672765
c.[26+22C>G(;)468C>G]intronic variation, p.D156EmissenseMBDRett syndrome - classicalUnknownF
2814Kim, ...
Pubmed: 16672765
c.[426C>T(;)916C>T]p.[F142F(;)R306C]silent, missenseMBD, TRDRett syndrome - classicalMutation associated with diseaseF
2820Kim, ...
Pubmed: 16672765
c.[502C>T(;)1326C>T]p.[R168X(;)T442T]nonsense, silentinter-domain region, C-termRett syndrome - classicalMutation associated with diseaseF
2823Kim, ...
Pubmed: 16672765
c.[26+22C>G(;) 808C>T]p.R270Xintronic variation, nonsenseintronic, TRD-NLSRett syndrome - classicalMutation associated with diseaseF
2825Kim, ...
Pubmed: 16672765
c.[808C>T(;) 1326C>T]p.[R270X(;) T442T]nonsense, silentTRD-NLS, C-termRett syndrome - classicalMutation associated with diseaseF
2831Kim, ...
Pubmed: 16672765
c.[26+22C>G(;) 808C>T]p.R270Xintronic variation, nonsenseintronic variation, TRD-NLSRett syndrome - classicalMutation associated with diseaseF
2906Schollen, ...
Pubmed: 12872251
c.[27-5690_1208del7628ins42];[439G>A]p.[R9fs];[D147N]frameshift combined insertion and deletion, missenseN-term, MBDRett syndrome - classicalMutation associated with diseaseF
2993Chae, ...
Pubmed: 15526954
c.[834C>T(;) 965C>T]p.[A278A(;) P322L]silent, missenseTRD, C-termRett syndrome - classicalUnknownF
3010Pan, ...
Pubmed: 12111643
c.[1158_1167del10; 1173_1188del16]p.P387HfsX9frameshift insertion or deletionC-termRett syndrome - classicalMutation associated with diseaseF
3021Yntema HG, ...
Pubmed: 12111644
c.[528C>G; 897C>T]p.[P176P; T299T]silentinter-domain regionNot Rett synd. - mental retardationSilent polymorphismM
3048Yaron Y, ...
Pubmed: 12325033
c.[1451G>C];[*98dupA]p.[R484T];[=]missense, 3'UTR C-term, 3'UTRRett syndrome - classicalPolymorphism not causing diseaseF
3049Yaron Y, ...
Pubmed: 12325033
c.*98dupA3'UTR variation3'UTR variation3'UTRRett syndrome - classicalPolymorphism not causing diseaseF
3082Karall, ...
Pubmed: 17881312
c.[=/473C>T];[473C>T]p.[=/T158M];[T158M]missenseMBDRett syndrome - classicalMutation associated with diseaseF
3288Philippe C, ...
Pubmed: 16473305
c.[1105_1116del12; 1152_1195del44]p.[H369_H372del; P385fs]frameshift insertion or deletionC-termRett syndrome - not certainMutation associated with diseaseF
3295Philippe C, ...
Pubmed: 16473305
c.[1159_1174del16; 1205_1432del228]p.P387fsframeshift insertion or deletionC-termRett syndrome - not certainMutation associated with diseaseF
3321Philippe C, ...
Pubmed: 16473305
c.[1197_1237inv; 1238_1266del]p.T400fsframeshift insertion or deletionC-termRett syndrome - not certainMutation associated with diseaseF
3323Philippe C, ...
Pubmed: 16473305
c.[1317_*623delins22; *796_*822del]p.A439fsframeshift combined insertion and deletionC-termRett syndrome - not certainMutation associated with diseaseF
3341Laccone, ...
Pubmed: 14974082
c.[1004_1037del; 1051_1054del; 1059_1072del; 1161_*2598del]p.G335fsframeshift insertion or deletionC-termRett syndrome - not certainMutation associated with diseaseF
3346Laccone, ...
Pubmed: 14974082
c.[945_1025conNM_004992.3:c.1196_1252; 1136_*8554+2526del]p.V316fsframeshift insertion or deletionTRDRett syndrome - not certainMutation associated with diseaseF
3347Laccone, ...
Pubmed: 14974082
c.[27-5862_1132del; 1157_1197del]p.R9fsframeshift insertion or deletionN-termRett syndrome - not certainMutation associated with diseaseF
3348Laccone, ...
Pubmed: 14974082
c.[27-5944_1132del; 1157_1197del] p.R9fsframeshift insertion or deletionN-termRett syndrome - not certainMutation associated with diseaseF
3356Lee SSJ, ...
Pubmed: 11738860
c.[1129_1133delAAGGCinsGAGT; 1155_1200del46]p.K377fsframeshift combined insertion and deletionC-termRett syndrome - not certainMutation associated with diseaseF
3413Lebo RV, ...
Pubmed: 11453972
c.[1043_1056del14; 1061_1074del14; 1104_1106del3; 1138_1163del26; 1178_1185del8]p.E348fsframeshift insertion or deletionC-termRett syndrome - not certainMutation associated with diseaseF
3414Lebo RV, ...
Pubmed: 11453972
c.[1051_1065del15; 1088_1115del28; 1138_1207del70]p.[P351_S355del; K363fs]frameshift insertion or deletionC-termRett syndrome - not certainMutation associated with diseaseF
3518Bienvenu T, ...
Pubmed: 12180070
c.[641_653del13; 711_1309del599]p.E214_Q437delinsGSSLSRCLFKLRQGARLRGEin-frame insertion or deletionTRDRett syndrome - not certainMutation associated with diseaseF
3527Li, ...
Pubmed: 17089071
c.[380C>T];[380C>T]p.[P127L];[P127L]missenseMBDRett syndrome - not certainUnknownF
3542Li, ...
Pubmed: 17089071
c.[473C>T];[473C>T]p.[T158M];[T158M]missenseMBDRett syndrome - not certainMutation associated with diseaseF
3794Inui, ...
Pubmed: 11376998
c.[397C>T; 602C>T]p.[R133C; A201V]missenseMBD, inter-domain regionRett syndrome - male variantMutation associated with diseaseM
3852Bunyan, ...
Pubmed: 18652533
c.[343C>T(;)1075_1178del104]p.[R115C(;)S359fs]missense, frameshift insertion or deletionMBD, C-termRett syndrome - classicalMutation associated with diseaseF
3853Bunyan, ...
Pubmed: 18652533
c.[502C>T; 1136_1142del7]p.R168Xnonsense, frameshift insertion or deletionMBD, C-termRett syndrome - not certainMutation associated with diseaseF
3854Bunyan, ...
Pubmed: 18652533
c.[27-?_377+?del(;)1085_1216del132]p.[R9_N126delinsS(;) P362_P405del]large deletion, inframe insertion or deletionMBD, C-termRett syndrome - classicalMutation associated with diseaseF
3855Bunyan, ...
Pubmed: 18652533
c.[27-?_1000+?dup(;)1100_1188del89]p.[?(;)H367fs]complex rearrangement, frameshift insertion or deletionMBD, C-termRett syndrome - classicalMutation associated with diseaseF
3858Santos, ...
Pubmed: 18688080
c.*9G>A3'UTR variation3'UTR variation3'UTRRett syndrome - atypicalPolymorphism not causing diseaseF
3859Santos, ...
Pubmed: 18688080
c.*98dupA3'UTR variation3'UTR variation3'UTRNot Rett synd. - mental retardation and autismPolymorphism not causing diseaseF
3860Santos, ...
Pubmed: 18688080
c.*1134G>A3'UTR variation3'UTR variation3'UTRRett syndrome - congenitalPolymorphism not causing diseaseF
3861Santos, ...
Pubmed: 18688080
c.[*8500C>G];[*8503delC]3'UTR variation3'UTR variation3'UTRNot Rett synd. - mental retardationPolymorphism not causing diseaseF
3862Santos, ...
Pubmed: 18688080
c.*8500C>G3'UTR variation3'UTR variation3'UTRNot Rett synd. - unaffected family memberPolymorphism not causing diseaseM
3863Santos, ...
Pubmed: 18688080
c.*8503delC3'UTR variation3'UTR variation3'UTRNot Rett synd. - unaffected family memberPolymorphism not causing diseaseF
3874Rosser, ...
Pubmed: 18810657
c.[1155_1172del18; 1373G>A]p.[L386_P391del; R458H]in-frame insertion or deletion, missensec-termRett syndrome - not certainUnknownF
3875Rosser, ...
Pubmed: 18810657
c.[1373G>A; 1448_*29del43]p.[R458H; E483fs]frameshift insertion or deletion, missensec-termRett syndrome - not certainMutation associated with diseaseF
3910Khajuria, ...
c.[455C>G(;)683C>G]p.[P152R(;)T228S]missenseMBD, TRDRett syndrome - classicalMutation associated with diseaseF
3978Zahorakova, ...
Pubmed: 17387578
c.*328G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - unaffected family memberPolymorphism not causing diseaseM
3979Zahorakova, ...
Pubmed: 17387578
c.*328G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - unaffected family memberPolymorphism not causing diseaseM
3988Evans, ...
Pubmed: 16965328
c.[=/808delC]p.[=/R270fs]frameshift insertion or deletionTRD-NLSNot Rett synd. - unaffected family memberMutation associated with diseaseM
4000Coutinho, ...
Pubmed: 17427193
c.*878C>G3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4001Coutinho, ...
Pubmed: 17427193
c.*878C>G3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4002Coutinho, ...
Pubmed: 17427193
c.*878C>G3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4003Coutinho, ...
Pubmed: 17427193
c.*878C>G3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4004Coutinho, ...
Pubmed: 17427193
c.*878C>G3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4005Coutinho, ...
Pubmed: 17427193
c.*878C>G3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4006Coutinho, ...
Pubmed: 17427193
c.*878C>G3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4007Coutinho, ...
Pubmed: 17427193
c.*878C>G3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4008Coutinho, ...
Pubmed: 17427193
c.*1737G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4009Coutinho, ...
Pubmed: 17427193
c.*1737G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4010Coutinho, ...
Pubmed: 17427193
c.*1737G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4011Coutinho, ...
Pubmed: 17427193
c.*1737G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4012Coutinho, ...
Pubmed: 17427193
c.*1737G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4013Coutinho, ...
Pubmed: 17427193
c.*3477G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4014Coutinho, ...
Pubmed: 17427193
c.*3477G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4015Coutinho, ...
Pubmed: 17427193
c.*3477G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4016Coutinho, ...
Pubmed: 17427193
c.*3878G>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4017Coutinho, ...
Pubmed: 17427193
c.*4576A>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4018Coutinho, ...
Pubmed: 17427193
c.*4576A>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4019Coutinho, ...
Pubmed: 17427193
c.*5486_*5487dupAT3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4020Coutinho, ...
Pubmed: 17427193
c.*7748C>T3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4021Coutinho, ...
Pubmed: 17427193
c.*7856A>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4022Coutinho, ...
Pubmed: 17427193
c.*7856A>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4023Coutinho, ...
Pubmed: 17427193
c.*7856A>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4024Coutinho, ...
Pubmed: 17427193
c.*7856A>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4025Coutinho, ...
Pubmed: 17427193
c.*7856A>C3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4026Coutinho, ...
Pubmed: 17427193
c.*8503delC3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4027Coutinho, ...
Pubmed: 17427193
c.*8503delC3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4028Coutinho, ...
Pubmed: 17427193
c.*8503delC3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4029Coutinho, ...
Pubmed: 17427193
c.*8503delC3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4030Coutinho, ...
Pubmed: 17427193
c.*8503delC3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4031Coutinho, ...
Pubmed: 17427193
c.*8503dupC3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4032Coutinho, ...
Pubmed: 17427193
c.*8503dupC3'UTR variation3'UTR variation3'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4043Santos, ...
Pubmed: 18688080
c.*98dupA3'UTR variation3'UTR variation3'UTRNot Rett synd. - unaffected family memberPolymorphism not causing diseaseM
4048Yaron Y, ...
Pubmed: 12325033
c.*98dupA3'UTR variation3'UTR variation3'UTRNot Rett synd. - unaffected family memberPolymorphism not causing diseaseM
4049Yaron Y, ...
Pubmed: 12325033
c.*98dupA3'UTR variation3'UTR variation3'UTRNot Rett synd. - unaffected family memberPolymorphism not causing diseaseF
4198Maiwald, ...
Pubmed: 12481990
c.[1363G>T];[=]p.[E455X];[=]nonsenseC-termRett syndrome - male variantMutation associated with diseaseM
4201Lobo-Menendez, ...
Pubmed: 12555243
c.*9G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - autismPolymorphism not causing diseaseU
4202Lobo-Menendez, ...
Pubmed: 12555243
c.*9G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - unaffected family memberPolymorphism not causing diseaseF
4203Lobo-Menendez, ...
Pubmed: 12555243
c.*9G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - normal controlPolymorphism not causing diseaseM
4204Lobo-Menendez, ...
Pubmed: 12555243
c.*9G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - normal controlPolymorphism not causing diseaseM
4205Lobo-Menendez, ...
Pubmed: 12555243
c.*9G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - normal controlPolymorphism not causing diseaseM
4206Lobo-Menendez, ...
Pubmed: 12555243
c.*9G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - normal controlPolymorphism not causing diseaseM
4207Lobo-Menendez, ...
Pubmed: 12555243
c.*9G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - normal controlPolymorphism not causing diseaseM
4208Lobo-Menendez, ...
Pubmed: 12555243
c.*9G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - normal controlPolymorphism not causing diseaseM
4209Lobo-Menendez, ...
Pubmed: 12555243
c.*9G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - normal controlPolymorphism not causing diseaseM
4210Lobo-Menendez, ...
Pubmed: 12555243
c.*9G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - normal controlPolymorphism not causing diseaseM
4211Lobo-Menendez, ...
Pubmed: 12555243
c.*9G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - normal controlPolymorphism not causing diseaseM
4212Lobo-Menendez, ...
Pubmed: 12555243
c.*9G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - normal controlPolymorphism not causing diseaseM
4213Lobo-Menendez, ...
Pubmed: 12555243
c.*9G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - normal controlPolymorphism not causing diseaseM
4214Lobo-Menendez, ...
Pubmed: 12555243
c.*9G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - normal controlPolymorphism not causing diseaseM
4215Lobo-Menendez, ...
Pubmed: 12555243
c.*55C>G3'UTR variation3'UTR variation3'UTRNot Rett synd. - autismPolymorphism not causing diseaseU
4216Lobo-Menendez, ...
Pubmed: 12555243
c.*55C>G3'UTR variation3'UTR variation3'UTRNot Rett synd. - unaffected family memberPolymorphism not causing diseaseF
4217Lobo-Menendez, ...
Pubmed: 12555243
c.*55C>G3'UTR variation3'UTR variation3'UTRNot Rett synd. - normal controlPolymorphism not causing diseaseM
4218Psoni, ...
Pubmed: 20098342
c.[=/316C>T]p.[=/R106W]missenseMBDRett syndrome - male variantMutation associated with diseaseM
4226de Lima, ...
Pubmed: 19722030
c.[316C>T(;)1233C>T]p.[R106W(;)S411S]missense, silentMBD, C-termRett syndrome - ClassicalMutation associated with diseaseF
4230de Lima, ...
Pubmed: 19722030
c.[334A>T(;)871T>G]p.[K112X(;)S291A]nonsense, missenseMBD, TRDRett syndrome - ClassicalMutation associated with diseaseF
4241de Lima, ...
Pubmed: 19722030
c.[473C>T(;)590C>T]p.[T158M(;)T197M]missenseMBD, inter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
4242de Lima, ...
Pubmed: 19722030
c.[473C>T(;)1233C>T]p.[T158M(;)S411S]missense, silentMBD, C-termRett syndrome - ClassicalMutation associated with diseaseF
4243de Lima, ...
Pubmed: 19722030
c.[473C>T(;)1335G>A]p.[T158M(;)T445T]missense, silentMBD, C-termRett syndrome - ClassicalMutation associated with diseaseF
4244de Lima, ...
Pubmed: 19722030
not certainp.F157LmissenseMBDRett syndrome - ClassicalUnknownF
4249de Lima, ...
Pubmed: 19722030
c.[397C>T(;)1233C>T]p.[R133C(;)S411S]missense, silentMBD, C-termRett syndrome - AtypicalMutation associated with diseaseF
4250de Lima, ...
Pubmed: 19722030
c.[398G>T(;)602C>T]p.[R133L(;)A201V]missenseMBD, inter-domain regionRett syndrome - ClassicalUnknownF
4285de Lima, ...
Pubmed: 19722030
c.[590C>T(;)916C>T]p.[T197M(;)R306C]missenseinter-domain region, TRDRett syndrome - ClassicalMutation associated with diseaseF
4286de Lima, ...
Pubmed: 19722030
c.[916C>T(;)1233C>T]p.[R306C(;)S411S]missense, silentTRD, C-termRett syndrome - ClassicalMutation associated with diseaseF
4288de Lima, ...
Pubmed: 19722030
c.[1233C>T(;)1460G>T]p.[S411S(;)X487LextX27]silent, non-stopC-termRett syndrome - ClassicalUnknownF
4299Fendri-Kriaa, ...
Pubmed: 20631224
c.[916C>T(;)*98dupA]p.R306C, 3'UTR variationmissense, 3'UTR variationTRD, 3'UTRRett syndrome - classicalMutation associated with diseaseF
4300Fendri-Kriaa, ...
Pubmed: 20631224
c.*92C>G3'UTR variation3'UTR variation3'UTRRett syndrome - classicalUnknownF
4334Monnerat, ...
Pubmed: 20031356
c.[377+28A>G(;)1014C>T]intronic variation, p.T338Tintronic variation, silentintronic, C-termRett syndrome - ClassicalSilent polymorphismF
4335Monnerat, ...
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 deletionintronic, C-termRett syndrome - ClassicalMutation associated with diseaseF
4336Monnerat, ...
Pubmed: 20031356
c.[378-74C>T(;)473C>T]intronic variation, p.T158Mintronic variation, missenseintronic, MBDRett syndrome - AtypicalMutation associated with diseaseF
4337Monnerat, ...
Pubmed: 20031356
c.[378-74C>T];[378-74C>T]intronic variationintronic variationintronicRett syndrome - ClassicalPolymorphism not causing diseaseF
4338Monnerat, ...
Pubmed: 20031356
c.[426C>T(;)608C>T]p.[F142F(;)T203M]silent, missenseMBD, inter-domain regionRett syndrome - AtypicalPolymorphism not causing diseaseF
4339Monnerat, ...
Pubmed: 20031356
c.[455C>G(;)582C>T]p.[P152R(;)S194S]missense, silentMBD, inter-domain regionRett syndrome - AtypicalMutation associated with diseaseF
4340Monnerat, ...
Pubmed: 20031356
c.[473C>T(;)*14G>A]p.T158M, 3'UTR variationmissense, 3'UTR variationMBD, 3'UTRRett syndrome - AtypicalMutation associated with diseaseF
4341Monnerat, ...
Pubmed: 20031356
c.[763C>T(;)1133C>G]p.[R255X(;)A378G]nonsense, missenseTRD, C-termRett syndrome - ClassicalMutation associated with diseaseF
4342Monnerat, ...
Pubmed: 20031356
c.[880C>T(;)1233C>T]p.[R294X(;)S411S]nonsense, silentTRD, C-termRett syndrome - ClassicalMutation associated with diseaseF
4397Khajuria, ...
c.[834C>T(;) 856_859delAAAG(;) 1180G>A]p.[A278A(;) K286fs(;) E394K]silent, frameshift insertion or deletion, missenseTRD, C-termRett syndrome - classicalMutation associated with diseaseF
4408Khajuria, ...
c.*98dupA3'UTR variation3'UTR variation3'UTRNot Rett synd. - sporadic mental retardationPolymorphism not causing diseaseF
4409Khajuria, ...
c.*98dupA3'UTR variation3'UTR variation3'UTRNot Rett synd. - non Rett syndrome controlPolymorphism not causing diseaseF
4595Rajaei, ...
Pubmed: 21212452
c.[1035A>G(;)1233C>T]p.[K345K(;)S411S]silentC-termRett syndrome - congenitalSilent polymorphismF
4671Pieras, ...
Pubmed: 20970936
c.[=/360T>G]p.[=/Y120X]nonsenseMBDRett syndrome - atypicalMutation associated with diseaseM
4708Hadzsiev, ...
Pubmed: 21160487
c.[1121_1311del191; 1326_1334del9]p.E374fsframeshift insertion or deletionC-termRett syndrome - not certainMutation associated with diseaseF
4713Hadzsiev, ...
Pubmed: 21160487
c.[276_277insG(;) 1162_1179del18]p.[P94fs(;) P388_P393del]frameshift insertion or deletion, in-frame insertion or deletionMBD, C-termRett syndrome - not certainMutation associated with diseaseF
4736Hadzsiev, ...
Pubmed: 21160487
c.[397C>T(;) 582C>T]p.[R133C(;) S194S]missense, silentMBD, inter-domain regionRett syndrome - not certainMutation associated with diseaseF
4795Fendri-Kriaa, ...
Pubmed: 21575601
c.[535C>T(;) 763C>T]p.[P179S(;) R255X]missense, nonsenseinter-domain region, TRDRett syndrome - classicalUnknownF
4805Lee, ...
Pubmed: 21325263
c.[602C>T(;) 1157_1197del41]p.[A201V(;) L386fs]frameshift insertion or deletionC-termRett syndrome - atypicalMutation associated with diseaseF
4807Mittal, ...
Pubmed: 21812101
c.[=/657-?_1316+?del]p.[=/?]in-frame insertion or deletionTRDRett syndrome - male variantMutation associated with diseaseM
4844Psoni, ...
Pubmed: 21982064
c.[426C>T(;) 502C>T]p.[F142F(;) R168X]nonsense, silentinter-domain regionRett syndrome - classicalMutation associated with diseaseF
4853Psoni, ...
Pubmed: 21982064
c.[1112_1116del; 1116_1137inv; 1138_1152del15ins7]p.H371GfsX7frameshift combined insertion and deletionC-termRett syndrome - classicalMutation associated with diseaseF
4902Fendri-Kriaa, ...
Pubmed: 22561697
c.[1077_1079delCTC(;) 1142C>T(;) 1157_1200del44]p.[S360del(;) P381L(;) L386fs]frameshift insertion or deletion, missenseC-termRett syndrome - classicalMutation associated with diseaseF
4905Kim, ...
Pubmed: 22476991
not certainp.F157LmissenseMBDRett syndrome - not certainUnknownF
4933Todorov, ...
Pubmed: 22525432
c.[584_624del41insTT; 638delTinsCA]p.[G195_Q208delinsV; L213Pfs*23]frameshift combined insertion and deletioninter-domain region, TRDRett syndrome - classicalMutation associated with diseaseF
5134Maortua, ...
Pubmed: 23810759
c.[1123_1189del;1249_1270del]p.S375Rfs*12frameshift insertion or deletionC-termRett syndrome - atypicalMutation associated with diseaseF
5140Maortua, ...
Pubmed: 23810759
c.[184-?_1065+?del; *5338_*5361+?del]p.?exonic deletionsC-termRett syndrome - classicalMutation associated with diseaseF
5226Maortua, ...
Pubmed: 23810759
c.*14G>A3'UTR variation3'UTR variation3'UTRRett syndrome - not certainUnknownF
5227Maortua, ...
Pubmed: 23810759
c.*93G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - normal controlPolymorphism not causing diseaseU
5228Maortua, ...
Pubmed: 23810759
c.*98dupA3'UTR variation3'UTR variation3'UTRRett syndrome - not certainPolymorphism not causing diseaseF
5229Maortua, ...
Pubmed: 23810759
c.*98dupA3'UTR variation3'UTR variation3'UTRRett syndrome - not certainPolymorphism not causing diseaseF
5230Maortua, ...
Pubmed: 23810759
c.*98dupA3'UTR variation3'UTR variation3'UTRNot Rett synd. - normal controlPolymorphism not causing diseaseF
5231Maortua, ...
Pubmed: 23810759
c.*98dupA3'UTR variation3'UTR variation3'UTRNot Rett synd. - normal controlPolymorphism not causing diseaseF
5232Maortua, ...
Pubmed: 23810759
c.*98dupA3'UTR variation3'UTR variation3'UTRNot Rett synd. - normal controlPolymorphism not causing diseaseF
5235Chapleau, ...
Pubmed: 23696494
c.[502C>T;1180G>A];[832G>A]p.[R168X];[A278T]nonsense, missenseinter-domain region, TRD, C-termRett syndrome - not certainMutation associated with diseaseF
5238Chapleau, ...
Pubmed: 23696494
c.[678delT];[378-109A>G;518C>G]p.[Q227Kfs*21];[P173R]frameshift insertion or deletion, intronic variation, missenseTRD, intronic, inter-domain regionRett syndrome - not certainMutation associated with diseaseF
5239Chapleau, ...
Pubmed: 23696494
c.[378-109A>G;518C>G]p.P173Rintronic variation, missenseintronic, inter-domain regionNot Rett synd. - unaffected family memberUnknownF
5240Chapleau, ...
Pubmed: 23696494
c.[905C>T;917G>A]p.[P302L;R306H]missenseTRDRett syndrome - not certainMutation associated with diseaseF
5242Chapleau, ...
Pubmed: 23696494
c.[502C>T;880C>T]p.R168Xnonsenseinter-domain region, TRDRett syndrome - not certainMutation associated with diseaseF
5243Chapleau, ...
Pubmed: 23696494
c.[203C>G;1094_1138del45]p.S68Xnonsense, in-frame insertion or deletionN-term, C-termRett syndrome - not certainMutation associated with diseaseF
5244Chapleau, ...
Pubmed: 23696494
c.[1104_1106del3;1157_1197del41]p.[H372del;L386fs]in-frame insertion or deletion, frameshift insertion or deletionC-termRett syndrome - not certainMutation associated with diseaseF
5245Chapleau, ...
Pubmed: 23696494
c.[1089_1129del41;1156_1197del42]p.Lys364Glyfs*13frameshift insertion or deletionC-termRett syndrome - not certainMutation associated with diseaseF
5246Chapleau, ...
Pubmed: 23696494
c.[1024_1025insAG;1029delG;1155_1209del55]p.Pro342_Pro403delins44combined in-frame insertion and deletionC-termRett syndrome - not certainMutation associated with diseaseF
5247Chapleau, ...
Pubmed: 23696494
c.[1137C>T;1157_1200del44]p.[P379P;L386fs]silent, frameshift insertion or deletionC-termRett syndrome - not certainMutation associated with diseaseF
5248Chapleau, ...
Pubmed: 23696494
c.[488_995del508;1061_1062delGC;1229_1240del12]p.Gly163Alafs*5in-frame insertion or deletion, frameshift insertion or deletioninter-domain region, TRD, C-termRett syndrome - not certainMutation associated with diseaseF
5249Chapleau, ...
Pubmed: 23696494
c.[401C>G;1168_1173del6]p.[S134C;P390_P391del]missense, in-frame insertion or deletionMBD, C-termRett syndrome - not certainMutation associated with diseaseF
6875Daniela Zahorakova, ...
Pubmed: 26984561
c.*156G>TIntronic variation3' UTR variation3' UTRNot Rett synd. - mental retardationPolymorphism not causing diseaseF
6874Daniela Zahorakova, ...
Pubmed: 26984561
c.*92C>TIntronic variation3' UTR variation3' UTRNot Rett synd. - mental retardationPolymorphism not causing diseaseF
6873Daniela Zahorakova, ...
Pubmed: 26984561
c.*9G>AIntronic variation3' UTR variation3' UTRNot Rett synd. - mental retardationPolymorphism not causing diseaseF
6676Directly submitted
c.[1104_1106del3(;) 1157_1197del41]p.[H372del(;) L386fs]frameshift insertion or deletionC-termRett syndrome - classicalMutation associated with diseaseF
6675Directly submitted
c.[1161_1166del6; 1180_1205del26]p.[P390_P391del; E394fs]frameshift insertion or deletionC-termRett syndrome - classicalMutation associated with diseaseF
6666Directly submitted
c.*14G>A3'UTR variation3'UTR variation3'UTRNot Rett synd. - unaffected family memberUnknownF
6665Directly submitted
c.*14G>A3'UTR variation3'UTR variation3'UTRRett syndrome - forme frusteUnknownF
6621Directly submitted
c.[502C>T; 880C>T]p.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6613Directly submitted
c.[401C>G; 1168_1173del6]p.[S134C; P390_P391del]missense, in-frame insertion or deletionMBD, C-termRett syndrome - classicalMutation associated with diseaseF
6611Directly submitted
c.*98dupA3'UTR variation3'UTR variation3'UTRRett syndrome - classicalPolymorphism not causing diseaseF
6589Directly submitted
c.[518C>G(;)678delT]p.[P173R(;)Q227fs]missenseinter-domain, TRDRett syndrome - classicalMutation associated with diseaseF
6347Directly submitted
c.*98dupA3'UTR variation3'UTR variation3'UTRNot Rett synd. - unaffected family memberPolymorphism not causing diseaseF
6346Directly submitted
c.[964C>G(;)*98dupA]p.P322Amissense, 3'UTR variationC-termRett syndrome - classicalUnknownF
6998Qingping Zhang, ...
Pubmed: 28394482
c.[1164_1207 del(;)1231_1233delAGC ] nonsense,frameshift insertion or deletionC-termNot Rett synd. - x-linked mental retardationMutation associated with diseaseM
2907Erlandson, ...
Pubmed: 15000811
c.1-?_26+?del (Deletion of exons 1 and 2)p.M1?frameshift insertion of deletionN-termRett syndrome - classicalMutation associated with diseaseF
2913Evans, ...
Pubmed: 15367913
AY523575.1:g.1029dupC5'UTR variation5'UTR variation5'UTRRett syndrome - classcialPolymorphism not causing diseaseF
2914Evans, ...
Pubmed: 15367913
AY523575.1:g.1029dupC5'UTR variation5'UTR variation5'UTRRett syndrome - atypicalPolymorphism not causing diseaseF
2915Evans, ...
Pubmed: 15367913
AY523575.1:g.1029dupC5'UTR variation5'UTR variation5'UTRRett syndrome - atypicalPolymorphism not causing diseaseF
3253Philippe C, ...
Pubmed: 16473305
c.1-?dupp.M1?large duplicationN-termRett syndrome - not certainUnknownF
3254Philippe C, ...
Pubmed: 16473305
c.1-?_26+?dupp.M1?large duplicationN-termRett syndrome - not certainUnknownF
3983Evans, ...
Pubmed: 15367913
AY523575.1:g.1029dupC5'UTR variation5'UTR variation5'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseF
3984Evans, ...
Pubmed: 15367913
AY523575.1:g.1029dupC5'UTR variation5'UTR variation5'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseM
3985Evans, ...
Pubmed: 15367913
AY523575.1:g.1029dupC5'UTR variation5'UTR variation5'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseM
3986Evans, ...
Pubmed: 15367913
AY523575.1:g.1029dupC5'UTR variation5'UTR variation5'UTRNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseM
1629Bunyan, ...
c.26+2T>Aintronic variationIntronic variationIntronicRett syndrome - Not certainMutation associated with diseaseF
2532Kirstine Ravn, ...
Pubmed: 15712379
c.26+25171_13878del50531ins14 (exons 3 and 4 deleted)p.R9fsFrameshift combined insertion and deletionN-termRett syndrome - ClassicalMutation associated with diseaseF
479Directly submitted
c.27-8C>Gintronic variationIntronic variationIntronicRett syndrome - ClassicalUnknownF
1355Laccone, ...
Pubmed: 11241840
c.27-6C>Gp.R9fsIntronic variationIntronicRett syndrome - Not certainMutation associated with diseaseU
1859Bunyan, ...
c.27-2A>Gintronic variationIntronic variationIntronicRett syndrome - Not certainMutation associated with diseaseF
1918Boulanger, ...
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - Not certainMutation associated with diseaseF
1919Boulanger, ...
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - Not certainMutation associated with diseaseF
2071Cardiff, ...
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - ClassicalMutation associated with diseaseF
2072Cardiff, ...
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - ClassicalMutation associated with diseaseF
2077Cardiff, ...
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - AtypicalMutation associated with diseaseF
2078Cardiff, ...
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - ClassicalMutation associated with diseaseF
2079Cardiff, ...
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - ClassicalMutation associated with diseaseF
2080Cardiff, ...
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - ClassicalMutation associated with diseaseF
2081Cardiff, ...
c.27-?_(378_1461)delp.R9fsFrameshift insertion or deletionN-termRett syndrome - ClassicalMutation associated with diseaseF
2082Cardiff, ...
c.27-?_(378_1461)delp.R9fsFrameshift insertion or deletionN-termRett syndrome - ClassicalMutation associated with diseaseF
2101Cardiff, ...
c.27-9A>Gintronic variationIntronic variationIntronicRett syndrome - ClassicalUnknownF
2500D Bartholdi, ...
Pubmed: 16630165
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - AtypicalMutation associated with diseaseF
2531Kirstine Ravn, ...
Pubmed: 15712379
c.27-12521_*5072del19784p.R9fsFrameshift insertion or deletionN-termRett syndrome - ClassicalMutation associated with diseaseF
2535Kirstine Ravn, ...
Pubmed: 15712379
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - ClassicalMutation associated with diseaseF
2536Kirstine Ravn, ...
Pubmed: 15712379
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - ClassicalMutation associated with diseaseF
2537Kirstine Ravn, ...
Pubmed: 15712379
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - ClassicalMutation associated with diseaseF
2644Zahorakova, ...
Pubmed: 17387578
c.27-?_*8554+?del (deletion of exons 3 and 4)p.R9fsframeshift insertion or deletionN-termRett syndrome - ClassicalMutation associated with diseaseF
2661Coutinho, ...
Pubmed: 17427193
c.27-55G>Aintronic variationintronic variationintronicNot Rett synd. - AutismUnknownU
2782Pan, ...
Pubmed: 17026625
c.27-?_1337+?delp.R9fsframeshift insertion or deletionN-termRett syndrome - classicalMutation associated with diseaseF
2784Pan, ...
Pubmed: 17026625
c.27-?_1337+?delp.R9fsframeshift insertion or deletionN-termRett syndrome - classicalMutation associated with diseaseF
2785Pan, ...
Pubmed: 17026625
c.27-?_1185+?delp.R9fsframeshift insertion or deletionN-termRett syndrome - classicalMutation associated with diseaseF
2787Pan, ...
Pubmed: 17026625
c.27-?_1337+?delp.R9fsframeshift insertion or deletionN-termRett syndrome - classicalMutation associated with diseaseF
2789Pan, ...
Pubmed: 17026625
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - classicalMutation associated with diseaseF
2791Pan, ...
Pubmed: 17026625
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - classicalMutation associated with diseaseF
2904Schollen, ...
Pubmed: 12872251
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - classicalMutation associated with diseaseF
2905Schollen, ...
Pubmed: 12872251
c.27-6215_1190del8136 (Deletion of exon 3 and part of exon 4)p.R9fsframeshift insertion or deletionN-termRett syndrome - classicalMutation associated with diseaseF
2908Erlandson, ...
Pubmed: 15000811
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - classicalMutation associated with diseaseF
2909Erlandson, ...
Pubmed: 15000811
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - classicalMutation associated with diseaseF
2974Kammoun, ...
Pubmed: 15173251
c.27-2A>Gintronic variationintronic variationN-termRett syndrome - atypicalMutation associated with diseaseF
3331Philippe C, ...
Pubmed: 16473305
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - not certainMutation associated with diseaseF
3332Philippe C, ...
Pubmed: 16473305
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - not certainMutation associated with diseaseF
3333Philippe C, ...
Pubmed: 16473305
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - not certainMutation associated with diseaseF
3334Philippe C, ...
Pubmed: 16473305
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - not certainMutation associated with diseaseF
3335Philippe C, ...
Pubmed: 16473305
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - not certainMutation associated with diseaseF
3336Philippe C, ...
Pubmed: 16473305
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - not certainMutation associated with diseaseF
3337Philippe C, ...
Pubmed: 16473305
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - not certainMutation associated with diseaseF
3338Philippe C, ...
Pubmed: 16473305
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - not certainMutation associated with diseaseF
3339Philippe C, ...
Pubmed: 16473305
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - not certainMutation associated with diseaseF
3340Laccone, ...
Pubmed: 14974082
c.27-96_1205del (deletion of exon 3 and 4)p.R9fsframeshift insertion or deletionN-termRett syndrome - not certainMutation associated with diseaseF
3342Laccone, ...
Pubmed: 14974082
c.27-4722_*739delins43p.R9fsframeshift combined insertion and deletionN-termRett syndrome - not certainMutation associated with diseaseF
3343Laccone, ...
Pubmed: 14974082
c.27-4722_*112delinsCACTTTGTGp.R9fsframeshift combined insertion and deletionN-termRett syndrome - not certainMutation associated with diseaseF
3344Laccone, ...
Pubmed: 14974082
c.27-6026_1190delinsGT (deletion of exons 3 and 4)p.R9fsframeshift combined insertion and deletionN-termRett syndrome - not certainMutation associated with diseaseF
3345Laccone, ...
Pubmed: 14974082
c.27-3928_1184del (deletion of exons 3 and 4)p.R9fsframeshift insertion or deletionN-termRett syndrome - not certainMutation associated with diseaseF
3349Laccone, ...
Pubmed: 14974082
c.27-5774_902delinsGTGCCCGGACTGATGTCA (deletion of exon 3 and part of exon 4)p.R9fsframeshift combined insertion and deletionN-termRett syndrome - not certainMutation associated with diseaseF
3350Laccone, ...
Pubmed: 14974082
c.27-?_377+?del (exon 3 deletion)p.R9_N126delinsSframeshift insertion or deletionN-termRett syndrome - not certainMutation associated with diseaseF
3353Laccone, ...
Pubmed: 14974082
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - not certainMutation associated with diseaseF
3612Li, ...
Pubmed: 17089071
c.27-?_1021+?del (deletion of exons 3 and start of exon 4)p.R9fsframeshift insertion or deletionN-termRett syndrome - not certainMutation associated with diseaseF
3613Li, ...
Pubmed: 17089071
c.27-?_1170+?del (deletion of exon 3 and part of exon 4)p.R9fsframeshift insertion or deletionN-termRett syndrome - not certainMutation associated with diseaseF
3614Li, ...
Pubmed: 17089071
c.27-?_1170+?del (deletion of exon 3 and part of exon 4)p.R9fsframeshift insertion or deletionN-termRett syndrome - not certainMutation associated with diseaseF
3615Li, ...
Pubmed: 17089071
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - not certainMutation associated with diseaseF
3616Li, ...
Pubmed: 17089071
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - not certainMutation associated with diseaseF
3617Li, ...
Pubmed: 17089071
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - not certainMutation associated with diseaseF
3767Fukuda, ...
Pubmed: 15737703
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - classicalMutation associated with diseaseF
3772Archer HL, ...
Pubmed: 16183801
c.27-?_1018+?delp.R9fsexonic deletionsN-termRett syndrome - classicalMutation associated with diseaseF
3773Archer HL, ...
Pubmed: 16183801
c.27-?_1018+?delp.R9fsexonic deletionsN-termRett syndrome - atypicalMutation associated with diseaseF
3774Archer HL, ...
Pubmed: 16183801
c.27-?_1018+?delp.R9fsexonic deletionsN-termRett syndrome - classicalMutation associated with diseaseF
3775Archer HL, ...
Pubmed: 16183801
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - classicalMutation associated with diseaseF
3776Archer HL, ...
Pubmed: 16183801
c.27-?_*?delp.R9fsexon deletionsN-termRett syndrome - classicalMutation associated with diseaseF
3777Archer HL, ...
Pubmed: 16183801
c.27-?_1397+?delp.R9fsexonic deletionsN-termRett syndrome - classicalMutation associated with diseaseF
3778Archer HL, ...
Pubmed: 16183801
c.27-?_1397+?delp.R9fsexonic deletionsN-termRett syndrome - classicalMutation associated with diseaseF
3779Archer HL, ...
Pubmed: 16183801
c.27-?_1397+?delp.R9fsexonic deletionsN-termRett syndrome - classicalMutation associated with diseaseF
4777Mittal, ...
Pubmed: 21871116
c.27-?_377+?del (exon 3 deletion)p.R9_N126delinsSframeshift insertion or deletionN-termRett syndrome - not certainMutation associated with diseaseF
4778Mittal, ...
Pubmed: 21871116
c.27-?_377+?del (exon 3 deletion)p.R9_N126delinsSframeshift insertion or deletionN-termRett syndrome - not certainMutation associated with diseaseF
4827Kobayashi, ...
Pubmed: 22001500
c.27-?_1029+?del (deletion of exon 3 and partial deletion of exon 4)p.R9?frameshift insertion or deletionN-termRett syndrome - congenitalMutation associated with diseaseF
4934Todorov, ...
Pubmed: 22525432
c.27-?_*?del (deletion of exons 3 and 4)p.R9?exonic deletionN-termRett syndrome - classicalMutation associated with diseaseF
4935Todorov, ...
Pubmed: 22525432
c.27-?_*?del (deletion of exons 3 and 4)p.R9?exonic deletionN-termRett syndrome - classicalMutation associated with diseaseF
6353Directly submitted
c.27-8C>Gintronic variationintronic variationintronicRett syndrome - classicalUnknownF
6352Directly submitted
c.27-2A>Gintronic variationintronic variationintronicRett syndrome - classicalMutation associated with diseaseF
6351Directly submitted
c.27-2A>Gintronic variationintronic variationintronicRett syndrome - classicalMutation associated with diseaseF
2866Smeets, ...
Pubmed: 12966523
c.28G>Cp.E10QmissenseN-termRett syndrome - forme frusteUnknownF
3168Philippe C, ...
Pubmed: 16473305
c.28G>Tp.E10XnonsenseN-termRett syndrome - not certainMutation associated with diseaseF
1458Vacca, ...
Pubmed: 11269512
c.35_42dupp.D15fsFrameshift insertion or deletionN-termRett syndrome - ClassicalMutation associated with diseaseF
2865Conforti, ...
Pubmed: 12567420
c.36G>Cp.K12NmissenseN-termRett syndrome - not certainPolymorphism not causing diseaseF
4046Conforti, ...
Pubmed: 12567420
c.36G>Cp.K12NmissenseN-termNot Rett synd. - unaffected family memberPolymorphism not causing diseaseM
1678Friez, ...
c.46C>Tp.Q16XNonsenseN-termNot knownMutation associated with diseaseF
1762Friez, ...
c.46C>Tp.Q16XNonsenseN-termNot knownMutation associated with diseaseF
4789Khajuria, ...
Pubmed: 21300488
c.50dupAp.D17fsframeshift insertion or deletionN-termRett syndrome - classicalMutation associated with diseaseF
1264Kim, ...
Pubmed: 10737989
c.55C>Tp.Q19XNonsenseN-termRett syndrome - AtypicalMutation associated with diseaseF
4469Das, ...
c.55C>Tp.Q19XnonsenseN-termNot knownMutation associated with diseaseF
4470Das, ...
c.56dupAp.L21fsframeshift insertion or deletionN-termNot knownMutation associated with diseaseF
1404Nicolao, ...
Pubmed: 11462237
c.64A>Tp.K22XNonsenseN-termRett syndrome - ClassicalMutation associated with diseaseF
1459Vacca, ...
Pubmed: 11269512
c.64A>Tp.K22XNonsenseN-termRett syndrome - ClassicalMutation associated with diseaseF
878Directly submitted
c.76delCp.L26fsFrameshift insertion or deletionN-termRett syndrome - ClassicalMutation associated with diseaseU
3383Nielsen JB, ...
Pubmed: 11313756
c.76delCp.L26fsframeshift insertion or deletionN-termRett syndrome - classicalMutation associated with diseaseF
2365Cardiff, ...
c.91delGp.V31XFrameshift insertion or deletionN-termRett syndrome - ClassicalMutation associated with diseaseF
468Directly submitted
c.100_103delGATAp.D34fsFrameshift insertion or deletionN-termRett syndrome - ClassicalMutation associated with diseaseF
1525Yamada, ...
Pubmed: 11524741
c.100_103delGATAp.D34fsFrameshift insertion or deletionN-termRett syndrome - classicalMutation associated with diseaseU
3255Philippe C, ...
Pubmed: 16473305
c.107_113del7p.K36fsframeshift insertion or deletionN-termRett syndrome - not certainMutation associated with diseaseF
3744Fukuda, ...
Pubmed: 15737703
c.107_108delAAp.K36fsframeshift insertion or deletionN-termRett syndrome - classicalMutation associated with diseaseF
1857Bunyan, ...
c.108_111delAGAAp.E37fsFrameshift insertion or deletionN-termRett syndrome - Not certainMutation associated with diseaseF
1876Directly submitted
c.108_111delAGAAp.E37fsFrameshift insertion or deletionN-termRett syndrome - Not certainMutation associated with diseaseF
3256Philippe C, ...
Pubmed: 16473305
c.117dupAp.E40fsframeshift insertion or deletionN-termRett syndrome - not certainMutation associated with diseaseF
3596Li, ...
Pubmed: 17089071
c.119_120delAGp.E40fsframeshift insertion or deletionN-termRett syndrome - not certainMutation associated with diseaseF
3869Julich, ...
Pubmed: 19559301
c.119_120delAGp.E40fsframeshift insertion or deletionN-termNot Rett synd. - neonatal encephalopathyMutation associated with diseaseM
6582Directly submitted
CDKL5: c.119C>TCDKL5: p.A40VmissenseCDKL5Not Rett synd. - congenital onsetMutation associated with diseaseF
2100Cardiff, ...
c.126dupGp.H43fsFrameshift insertion or deletionN-termRett syndrome - AtypicalMutation associated with diseaseF
3035Yaron Y, ...
Pubmed: 12325033
c.140dupAp.P48fsframeshift insertion or deletionN-termRett syndrome - classicalMutation associated with diseaseF
236Bourdon, ...
Pubmed: 11214906
c.146C>Ap.S49XNonsenseN-termRett syndrome - Not certainMutation associated with diseaseU
1755Friez, ...
c.146C>Ap.S49XNonsenseN-termNot knownMutation associated with diseaseF
2338Cardiff, ...
c.146C>Ap.S49XNonsenseN-termRett syndrome - AtypicalMutation associated with diseaseF
4423Das, ...
c.146C>Gp.S49XnonsenseN-termNot knownMutation associated with diseaseF
6602Directly submitted
c.146C>Ap.S49XnonsenseN-termRett syndrome - classicalMutation associated with diseaseF
4393Khajuria, ...
c.153C>Gp.H51QmissenseN-termNot Rett synd. - unaffected family memberUnknownF
4788Khajuria, ...
Pubmed: 21300488
c.153C>Gp.H51QmissenseN-termNot Rett synd. - unaffected family memberUnknownF
2141Cardiff, ...
c.155A>Gp.H52RMissenseN-termNot Rett synd. - not certainUnknownF
7025Huong Le Thi Thanh , ...
Pubmed: 30081849
c.164_182del frameshift insertion or deletionN-termRett syndrome - classicalMutation associated with diseaseF
1024Clayton-Smith, ...
Pubmed: 11022934
c.167_168delCCp.P56fsFrameshift insertion or deletionN-term Mutation associated with diseaseM
1155Watson, ...
Pubmed: 11283202
c.167_168delCCp.P56fsFrameshift insertion or deletionN-termNot Rett synd. - Angelman syndromeMutation associated with diseaseM
147Amano, ...
Pubmed: 10944854
c.168C>Tp.P56PSilentN-termRett syndrome - Not certainSilent polymorphismU
1794Friez, ...
c.168C>Tp.P56PSilentN-termNot knownSilent polymorphismM
2140Cardiff, ...
c.168C>Tp.P56PSilentN-termNot knownSilent polymorphismM
5137Maortua, ...
Pubmed: 23810759
c.184-?_1065+?delp.?exonic deletionsMBDRett syndrome - classicalMutation associated with diseaseF
2564Zahorakova, ...
Pubmed: 17387578
c.189_190delGAp.E63fsframeshift insertion or deletionN-termRett syndrome - ClassicalMutation associated with diseaseF
1732Friez, ...
c.194C>Gp.S65XNonsenseN-termNot knownMutation associated with diseaseF
4424Das, ...
c.194C>Gp.S65XnonsenseN-termNot knownMutation associated with diseaseF
1357Laccone, ...
Pubmed: 11241840
c.201delGp.S68fsFrameshift insertion or deletionN-termRett syndrome - Not certainMutation associated with diseaseU
3686Fukuda, ...
Pubmed: 15737703
c.203C>Gp.S68XnonsenseMBDRett syndrome - classicalMutation associated with diseaseF
1729Friez, ...
c.210C>Tp.S70SSilentN-termNot knownSilent polymorphismF
1737Friez, ...
c.210C>Tp.S70SSilentN-termNot knownSilent polymorphismM
1763Friez, ...
c.210C>Tp.S70SSilentN-termNot knownSilent polymorphismF
1771Friez, ...
c.210C>Tp.S70SSilentN-termNot knownSilent polymorphismM
2139Cardiff, ...
c.215C>Tp.P72LMissenseN-termNot knownUnknownM
2930Kammoun, ...
Pubmed: 15173251
c.215dupCp.A73fsframeshift insertion or deletionN-termRett syndrome - classicalMutation associated with diseaseF
3257Philippe C, ...
Pubmed: 16473305
c.215_216insTp.A73fsframeshift insertion or deletionN-termRett syndrome - not certainMutation associated with diseaseF
4425Das, ...
c.224C>T p. P75LmissenseN-termNot knownUnknownF
3020Yntema HG, ...
Pubmed: 12111644
c.225G>Ap.P75PsilentN-termNot Rett synd. - mental retardationSilent polymorphismM
6641Directly submitted
c.226delGp.E76fsframeshift insertion or deletionMBDRett syndrome - classicalMutation associated with diseaseF
1713Friez, ...
c.229_238del10p.A77fsFrameshift insertion or deletionN-termNot knownMutation associated with diseaseF
6640Directly submitted
c.229_238del10p.A77fsframeshift insertion or deletionMBDRett syndrome - classicalMutation associated with diseaseF
3753Fukuda, ...
Pubmed: 15737703
c.233delCp.S78fsframeshift insertion or deletionMBDRett syndrome - classicalMutation associated with diseaseF
3750Fukuda, ...
Pubmed: 15737703
c.243dupCp.K82fsframeshift insertion or deletionMBDRett syndrome - classicalMutation associated with diseaseF
2673Coutinho, ...
Pubmed: 17427193
c.245A>Gp.K82RmissenseMBDNot Rett synd. - Non-Rett syndrome controlPolymorphism not causing diseaseM
4806Mittal, ...
Pubmed: 21812101
c.248-?_320+?del (exon 3 deletion)p.?in-frame insertion or deletionMBDRett syndrome - classicalMutation associated with diseaseF
1766Friez, ...
c.249_250ins7p.R84fsFrameshift insertion or deletionMBDNot knownMutation associated with diseaseF
1138Buyse, ...
Pubmed: 11055898
c.257C>Gp.S86CMissenseMBDRett syndrome - Not certainUnknownF
123Huppke, ...
Pubmed: 10814718
c.258_259delCAp.I87fsFrameshift insertion or deletionMBDRett syndrome - Not certainMutation associated with diseaseF
4396Khajuria, ...
c.274G>Tp.G92XnonsenseMBDRett syndrome - classicalMutation associated with diseaseF
2138Cardiff, ...
c.277C>Tp.P93SMissenseMBDRett syndrome - ClassicalUnknownF
4080Khajuria, ...
c.279C>Tp.P93PsilentMBDRett syndrome - atypicalSilent polymorphismF
28Hoffbuhr, ...
Pubmed: 11402105
c.289G>Tp.D97YMissenseMBDRett syndrome - Not certainUnknownF
1221Chae, ...
Pubmed: 11913567
c.289G>Tp.D97YMissenseMBDRett syndrome - ClassicalUnknownF
2646Stachon, ...
Pubmed: 17420824
c.289G>Tp.D97YmissenseMBDRett syndrome - not certainUnknownF
4346Monnerat, ...
Pubmed: 20031356
c.289G>Tp.D97YmissenseMBDRett syndrome - ClassicalUnknownF
865Xiang, ...
Pubmed: 10745042
c.291C>Ap.D97EMissenseMBDRett syndrome - Not certainUnknownU
3083Philippe C, ...
Pubmed: 16473305
c.291C>Ap.D97EmissenseMBDRett syndrome - not certainUnknownF
4181Directly submitted
c.295_297delACCp.T99delin-frame insertion or deletionMBDRett syndrome - classicalMutation associated with diseaseF
1877Directly submitted
c.297C>Gp.T99TSilentMBDRett syndrome - Not certainSilent polymorphismF
1139Buyse, ...
Pubmed: 11055898
c.298C>Gp.L100VMissenseMBDRett syndrome - Not certainUnknownF
1215Chae, ...
Pubmed: 11913567
c.298C>Gp.L100VMissenseMBDRett syndrome - ClassicalUnknownF
1648Directly submitted
c.298C>Gp.L100VMissenseMBDRett syndrome - Not certainUnknownF
1946Hammer, ...
Pubmed: 12966522
c.298C>Gp.L100VMissenseMBDRett syndrome - atypicalUnknownF
2804Kim, ...
Pubmed: 16672765
c.298C>Gp.L100VmissenseMBDRett syndrome - classicalUnknownF
4903Kim, ...
Pubmed: 22476991
c.298C>Gp.L100VmissenseMBDRett syndrome - not certainUnknownF
6599Directly submitted
c.298C>Gp.L100VmissenseMBDRett syndrome - classicalUnknownF
1932Schanen, ...
Pubmed: 15057977
c.299T>Gp.L100RMissenseMBDRett syndrome - classicalUnknownF
1436Vacca, ...
Pubmed: 11269512
c.301C>Tp.P101SMissenseMBDRett syndrome - ClassicalUnknownF
1687Friez, ...
c.301C>Tp.P101SMissenseMBDNot knownUnknownF
1822Bunyan, ...
c.301C>Tp.P101SMissenseMBDRett syndrome - Not certainUnknownF
2169Cardiff, ...
c.301C>Tp.P101SMissenseMBDRett syndrome - AtypicalUnknownF
190Hampson, ...
Pubmed: 10991689
c.302C>Gp.P101RMissenseMBDRett syndrome - Not certainUnknownF
1152Watson, ...
Pubmed: 11283202
c.302C>Gp.P101RMissenseMBDNot Rett synd. - Angelman syndromeUnknownF
2167Cardiff, ...
c.302C>Ap.P101HMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2168Cardiff, ...
c.302C>Tp.P101LMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
4426Das, ...
c.302C>Gp.P101RmissenseMBDNot knownUnknownF
6598Directly submitted
c.302C>Gp.P101RmissenseMBDRett syndrome - classicalUnknownF
6597Directly submitted
c.302C>Gp.P101RmissenseMBDRett syndrome - classicalUnknownF
4395Khajuria, ...
c.308G>Ap.G103DmissenseMBDRett syndrome - atypicalUnknownF
3514Bienvenu T, ...
Pubmed: 12180070
c.310T>Cp.W104RmissenseMBDRett syndrome - not certainUnknownF
2366Cardiff, ...
c.311_323del13p.W104fsFrameshift insertion or deletionMBDRett syndrome - AtypicalMutation associated with diseaseF
2367Cardiff, ...
c.311G>Ap.W104XNonsenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1923Schanen, ...
Pubmed: 15057977
c.315dupAp.R106fsFrameshift insertion or deletionMBDRett syndrome - classicalMutation associated with diseaseF
6Bunyan, ...
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
10Bunyan, ...
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
49Hoffbuhr, ...
Pubmed: 11402105
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
50Hoffbuhr, ...
Pubmed: 11402105
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
51Hoffbuhr, ...
Pubmed: 11402105
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
52Hoffbuhr, ...
Pubmed: 11402105
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
53Hoffbuhr, ...
Pubmed: 11402105
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
54Hoffbuhr, ...
Pubmed: 11402105
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
55Hoffbuhr, ...
Pubmed: 11402105
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
104Huppke, ...
Pubmed: 10814718
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
154Obata, ...
Pubmed: 10991688
c.316C>Tp.R106WMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
191Hampson, ...
Pubmed: 10991689
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
224Bourdon, ...
Pubmed: 11214906
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
225Bourdon, ...
Pubmed: 11214906
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
226Bourdon, ...
Pubmed: 11214906
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
227Bourdon, ...
Pubmed: 11214906
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
262Trappe, ...
Pubmed: 11309679
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
289Auranen, ...
Pubmed: 11245712
c.316C>Tp.R106WMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
290Auranen, ...
Pubmed: 11245712
c.316C>Tp.R106WMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
368Directly submitted
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
370Directly submitted
c.316C>Tp.R106WMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
424Directly submitted
c.316C>Tp.R106WMissenseMBDNot knownMutation associated with diseaseF
456Directly submitted
c.316C>Tp.R106WMissenseMBDRett syndrome - AtypicalMutation associated with diseaseF
879Directly submitted
c.316C>Tp.R106WMissenseMBDRett syndrome - ClassicalMutation associated with diseaseU
864Xiang, ...
Pubmed: 10745042
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
863Xiang, ...
Pubmed: 10745042
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
846Amir, ...
Pubmed: 10508514
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
845Amir, ...
Pubmed: 10508514
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
844Amir, ...
Pubmed: 10508514
c.316C>Tp.R106WMissenseMBDRett syndrome - ClassicalMutation associated with diseaseU
1027Buyse, ...
Pubmed: 11055898
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1028Buyse, ...
Pubmed: 11055898
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1029Buyse, ...
Pubmed: 11055898
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1145Imessaoudene, ...
Pubmed: 11238684
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1223Erlandson, ...
Pubmed: 11469283
c.316C>Tp.R106WMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1242Huppke, ...
Pubmed: 12075485
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1273Laccone, ...
Pubmed: 11241840
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
1274Laccone, ...
Pubmed: 11241840
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
1275Laccone, ...
Pubmed: 11241840
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
1276Laccone, ...
Pubmed: 11241840
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
1277Laccone, ...
Pubmed: 11241840
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
1278Laccone, ...
Pubmed: 11241840
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
1376Lam, ...
Pubmed: 11106359
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1437Vacca, ...
Pubmed: 11269512
c.316C>Tp.R106WMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1482Wan, ...
Pubmed: 10577905
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1612Bunyan, ...
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1625Bunyan, ...
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1682Friez, ...
c.316C>Tp.R106WMissenseMBDNot knownMutation associated with diseaseF
1699Friez, ...
c.316C>Tp.R106WMissenseMBDNot knownMutation associated with diseaseF
1727Friez, ...
c.316C>Tp.R106WMissenseMBDNot knownMutation associated with diseaseF
1752Friez, ...
c.316C>Tp.R106WMissenseMBDNot knownMutation associated with diseaseF
1792Friez, ...
c.316C>Tp.R106WMissenseMBDNot knownMutation associated with diseaseF
1801Friez, ...
c.316C>Tp.R106WMissenseMBDNot knownMutation associated with diseaseF
1878Directly submitted
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1879Directly submitted
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1880Directly submitted
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1881Directly submitted
c.316C>Tp.R106WMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1924Schanen, ...
Pubmed: 15057977
c.316C>Tp.R106WMissenseMBDRett syndrome - classicalMutation associated with diseaseF
2023Directly submitted
c.316C>Tp.R106WMissenseMBDNot knownMutation associated with diseaseF
2067Directly submitted
c.316C>Tp.R106WMissenseMBDNot knownMutation associated with diseaseF
2194Cardiff, ...
c.316C>Gp.R106GMissenseMBDRett syndrome - ClassicalUnknownF
2195Cardiff, ...
c.316C>Gp.R106GMissenseMBDNot Rett synd. - Unaffected family memberUnknownF
2196Cardiff, ...
c.316C>Gp.R106GMissenseMBDRett syndrome - AtypicalUnknownF
2197Cardiff, ...
c.316C>Tp.R106WMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2198Cardiff, ...
c.316C>Tp.R106WMissenseMBDRett syndrome - AtypicalMutation associated with diseaseF
2199Cardiff, ...
c.316C>Tp.R106WMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2200Cardiff, ...
c.316C>Tp.R106WMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2201Cardiff, ...
c.316C>Tp.R106WMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2202Cardiff, ...
c.316C>Tp.R106WMissenseMBDRett syndrome - AtypicalMutation associated with diseaseF
2203Cardiff, ...
c.316C>Tp.R106WMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2204Cardiff, ...
c.316C>Tp.R106WMissenseMBDRett syndrome - AtypicalMutation associated with diseaseF
2205Cardiff, ...
c.316C>Tp.R106WMissenseMBDRett syndrome - AtypicalMutation associated with diseaseF
2419Directly submitted
c.316C>Tp.R106WMissenseMBDRett syndrome - Forme frusteMutation associated with diseaseF
2438Monros, ...
Pubmed: 11738885
c.316C>Tp.R106WMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2470Monros, ...
Pubmed: 11738885
c.316C>Tp.R106WMissenseMBDRett syndrome - Preserved speechMutation associated with diseaseF
2565Zahorakova, ...
Pubmed: 17387578
c.316C>Tp.R106WmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2566Zahorakova, ...
Pubmed: 17387578
c.316C>Tp.R106WmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2567Zahorakova, ...
Pubmed: 17387578
c.316C>Tp.R106WmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2568Zahorakova, ...
Pubmed: 17387578
c.316C>Tp.R106WmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2569Zahorakova, ...
Pubmed: 17387578
c.316C>Tp.R106WmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
3036Yaron Y, ...
Pubmed: 12325033
c.316C>Tp.R106WmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3037Yaron Y, ...
Pubmed: 12325033
c.316C>Tp.R106WmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3067Giunti L, ...
Pubmed: 11738883
c.316C>Tp.R106WmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3087Philippe C, ...
Pubmed: 16473305
c.316C>Tp.R106WmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3088Philippe C, ...
Pubmed: 16473305
c.316C>Tp.R106WmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3089Philippe C, ...
Pubmed: 16473305
c.316C>Tp.R106WmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3090Philippe C, ...
Pubmed: 16473305
c.316C>Tp.R106WmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3091Philippe C, ...
Pubmed: 16473305
c.316C>Tp.R106WmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3092Philippe C, ...
Pubmed: 16473305
c.316C>Tp.R106WmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3093Philippe C, ...
Pubmed: 16473305
c.316C>Tp.R106WmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3094Philippe C, ...
Pubmed: 16473305
c.316C>Tp.R106WmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3095Philippe C, ...
Pubmed: 16473305
c.316C>Gp.R106GmissenseMBDRett syndrome - not certainUnknownF
3382Nielsen JB, ...
Pubmed: 11313756
c.316C>Tp.R106WmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3395Yamashita Y, ...
Pubmed: 11738864
c.316C>Tp.R106WmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3419Bienvenu T, ...
Pubmed: 12180070
c.316C>Tp.R106WmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3420Bienvenu T, ...
Pubmed: 12180070
c.316C>Tp.R106WmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3421Bienvenu T, ...
Pubmed: 12180070
c.316C>Tp.R106WmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3422Bienvenu T, ...
Pubmed: 12180070
c.316C>Tp.R106WmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3423Bienvenu T, ...
Pubmed: 12180070
c.316C>Tp.R106WmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3424Bienvenu T, ...
Pubmed: 12180070
c.316C>Tp.R106WmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3425Bienvenu T, ...
Pubmed: 12180070
c.316C>Gp.R106GmissenseMBDRett syndrome - not certainUnknownF
3523Li, ...
Pubmed: 17089071
c.316C>Tp.R106WmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3524Li, ...
Pubmed: 17089071
c.316C>Tp.R106WmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3628Fukuda, ...
Pubmed: 15737703
c.316C>Tp.R106WmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3629Fukuda, ...
Pubmed: 15737703
c.316C>Tp.R106WmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3630Fukuda, ...
Pubmed: 15737703
c.316C>Tp.R106WmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3803Wong, ...
Pubmed: 18174559
c.316C>Tp.R106WmissenseMBDRett syndrome - classicalMutation associated with diseaseF
4135Milunsky, ...
Pubmed: 11960578
c.316C>Tp.R106WmissenseMBDNot knownMutation associated with diseaseF
4136Milunsky, ...
Pubmed: 11960578
c.316C>Tp.R106WmissenseMBDNot knownMutation associated with diseaseF
4137Milunsky, ...
Pubmed: 11960578
c.316C>Tp.R106WmissenseMBDNot knownMutation associated with diseaseF
4138Milunsky, ...
Pubmed: 11960578
c.316C>Tp.R106WmissenseMBDNot knownMutation associated with diseaseF
4139Milunsky, ...
Pubmed: 11960578
c.316C>Tp.R106WmissenseMBDNot knownMutation associated with diseaseF
4227de Lima, ...
Pubmed: 19722030
c.316C>Tp.R106WmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
4228de Lima, ...
Pubmed: 19722030
c.316C>Tp.R106WmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
4229de Lima, ...
Pubmed: 19722030
c.316C>Tp.R106WmissenseMBDRett syndrome - AtypicalMutation associated with diseaseF
4315Raizis, ...
Pubmed: 19652677
c.316C>Tp.R106WmissenseMBDRett syndrome - not certainMutation associated with diseaseF
4427Das, ...
c.316C>Tp.R106WmissenseMBDNot knownMutation associated with diseaseF
4428Das, ...
c.316C>T p.R106WmissenseMBDNot knownMutation associated with diseaseF
4728Hadzsiev, ...
Pubmed: 21160487
c.316C>Tp.R106WmissenseMBDRett syndrome - not certainMutation associated with diseaseF
4729Hadzsiev, ...
Pubmed: 21160487
c.316C>Tp.R106WmissenseMBDRett syndrome - not certainMutation associated with diseaseF
4808Corbani, ...
Pubmed: 21954873
c.316C>Tp.R106WmissenseMBDRett syndrome - classicalMutation associated with diseaseF
4828Psoni, ...
Pubmed: 21982064
c.316C>Tp.R106WmissenseMBDRett syndrome - classicalMutation associated with diseaseF
4829Psoni, ...
Pubmed: 21982064
c.316C>Tp.R106WmissenseMBDRett syndrome - classicalMutation associated with diseaseF
4830Psoni, ...
Pubmed: 21982064
c.316C>Tp.R106WmissenseMBDRett syndrome - classicalMutation associated with diseaseF
4831Psoni, ...
Pubmed: 21982064
c.316C>Tp.R106WmissenseMBDRett syndrome - classicalMutation associated with diseaseF
4904Kim, ...
Pubmed: 22476991
c.316C>Tp.R106WmissenseMBDRett syndrome - not certainMutation associated with diseaseF
5054Das, ...
Pubmed: 23262346
c.316C>Tp.R106WmissenseMBDRett syndrome - not certainMutation associated with diseaseF
6574Directly submitted
c.316C>Tp.R106WmissenseMBDNot Rett synd. - mental retardationMutation associated with diseaseF
6573Directly submitted
c.316C>Tp.R106WmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6572Directly submitted
c.316C>Tp.R106WmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6571Directly submitted
c.316C>Tp.R106WmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6570Directly submitted
c.316C>Tp.R106WmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6569Directly submitted
c.316C>Tp.R106WmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6568Directly submitted
c.316C>Tp.R106WmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6567Directly submitted
c.316C>Tp.R106WmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6566Directly submitted
c.316C>Tp.R106WmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6565Directly submitted
c.316C>Tp.R106WmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6564Directly submitted
c.316C>Tp.R106WmissenseMBDRett syndrome - classicalMutation associated with diseaseF
7031Tsutomu Shioda , ...
Pubmed: 29631775
c.316C>T missenseMBDNot Rett synd. - progressive encephalopathy of neonatal onsetMutation associated with diseaseM
7040Tsutomu Shioda , ...
Pubmed: 29631775
c.316C>T missenseMBDNot Rett synd. - progressive encephalopathy of neonatal onsetMutation associated with diseaseM
372Directly submitted
c.317G>Ap.R106QMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
921Bienvenu, ...
Pubmed: 10814719
c.317G>Ap.R106QMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1025Buyse, ...
Pubmed: 11055898
c.317G>Ap.R106QMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1026Buyse, ...
Pubmed: 11055898
c.317G>Ap.R106QMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1262Ishii, ...
Pubmed: 11738865
c.317G>Ap.R106QMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1263Ishii, ...
Pubmed: 11738865
c.317G>Ap.R106QMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1882Directly submitted
c.317G>Ap.R106QMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1883Directly submitted
c.317G>Ap.R106QMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
2033Directly submitted
c.317G>Ap.R106QMissenseMBDNot knownMutation associated with diseaseF
2436Directly submitted
c.317G>Ap.R106QMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2484Directly submitted
c.317G>Tp.R106LMissenseMBDRett syndrome - ClassicalUnknownF
3084Philippe C, ...
Pubmed: 16473305
c.317G>Ap.R106QmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3085Philippe C, ...
Pubmed: 16473305
c.317G>Ap.R106QmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3086Philippe C, ...
Pubmed: 16473305
c.317G>Ap.R106QmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3418Bienvenu T, ...
Pubmed: 12180070
c.317G>Ap.R106QmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3525Li, ...
Pubmed: 17089071
c.317G>Ap.R106QmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3631Fukuda, ...
Pubmed: 15737703
c.317G>Ap.R106QmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3632Fukuda, ...
Pubmed: 15737703
c.317G>Ap.R106QmissenseMBDRett syndrome - classicalMutation associated with diseaseF
4730Hadzsiev, ...
Pubmed: 21160487
c.317G>Ap.R106QmissenseMBDRett syndrome - not certainMutation associated with diseaseF
4731Hadzsiev, ...
Pubmed: 21160487
c.317G>Ap.R106QmissenseMBDRett syndrome - not certainMutation associated with diseaseF
6759Daniela Zahorakova, ...
Pubmed: 26984561
c.317G>Ap.R106QmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6577Directly submitted
c.317G>Ap.R106QmissenseMBDRett syndrome - classicalMutation associated with diseaseF
4932Todorov, ...
Pubmed: 22525432
c.318_321dupp.L108fsframeshift insertion or deletionMBDRett syndrome - classicalMutation associated with diseaseF
2570Zahorakova, ...
Pubmed: 17387578
c.323T>Ap.L108HmissenseMBDRett syndrome - ClassicalUnknownF
4347Monnerat, ...
Pubmed: 20031356
c.326dupAp.Q110fsframeshift insertion or deletionMBDRett syndrome - ClassicalMutation associated with diseaseF
1279Laccone, ...
Pubmed: 11241840
c.331A>Gp.R111GMissenseMBDRett syndrome - Not certainUnknownU
1884Directly submitted
c.341G>Cp.G114AMissenseMBDRett syndrome - Not certainUnknownF
4306Raizis, ...
Pubmed: 19652677
c.343_1282delp.R115_E394delin-frame insertion or deletionMBD, inter-domain, TRD, TRD-NLS, C-termRett syndrome - not certainMutation associated with diseaseF
1201Bienvenu, ...
Pubmed: 11524737
c.345delCp.S116fsFrameshift insertion or deletionMBDRett syndrome - ClassicalMutation associated with diseaseF
3796Inui, ...
Pubmed: 11376998
c.358T>Gp.Y120DmissenseMBDRett syndrome - not certainUnknownF
2065Directly submitted
c.362A>Gp.D121GMissenseMBDNot knownUnknownF
3526Li, ...
Pubmed: 17089071
c.364G>Ap.V122MmissenseMBDRett syndrome - not certainUnknownF
4036McWilliam, ...
Pubmed: 19592282
c.365T>Cp.V122AmissenseMBDNot Rett synd.UnknownM
4037McWilliam, ...
Pubmed: 19592282
c.365T>Cp.V122AmissenseMBDNot Rett synd.UnknownF
4038McWilliam, ...
Pubmed: 19592282
c.365T>Cp.V122AmissenseMBDNot Rett synd.UnknownF
155Obata, ...
Pubmed: 10991688
c.372G>Cp.L124FMissenseMBDRett syndrome - ClassicalUnknownF
3396Yamashita Y, ...
Pubmed: 11738864
c.372G>Cp.L124FmissenseMBDRett syndrome - classicalUnknownF
3633Fukuda, ...
Pubmed: 15737703
c.372G>Tp.L124FmissenseMBDRett syndrome - classicalUnknownF
185Obata, ...
Pubmed: 10991688
c.375delCp.N126fsFrameshift insertion or deletionMBDRett syndrome - ClassicalMutation associated with diseaseF
1002Cheadle, ...
Pubmed: 10767337
c.375C>Ap.I125ISilentMBDRett syndrome - Not certainSilent polymorphismU
1123Buyse, ...
Pubmed: 11055898
c.375C>Ap.I125ISilentMBDRett syndrome - Not certainSilent polymorphismF
1826Bunyan, ...
c.375C>Ap.I125ISilentMBDRett syndrome - Not certainSilent polymorphismF
3754Fukuda, ...
Pubmed: 15737703
c.375delCp.N126fsframeshift insertion or deletionMBDRett syndrome - classicalMutation associated with diseaseF
4623Piton, ...
Pubmed: 20479760
c.375C>Ap.I125IsilentMBDNot Rett synd. - autism spectrum disorderSilent polymorphismU
4624Piton, ...
Pubmed: 20479760
c.375C>Ap.I125IsilentMBDNot Rett synd. - schizophreniaSilent polymorphismU
4625Piton, ...
Pubmed: 20479760
c.375C>Ap.I125IsilentMBDNot Rett synd. - normal controlSilent polymorphismU
4749Hadzsiev, ...
Pubmed: 21160487
c.375C>Ap.I125IsilentMBDRett syndrome - not certainSilent polymorphismF
6846Daniela Zahorakova, ...
Pubmed: 26984561
c.375C>A p.I125IsilentMBDNot Rett synd. - mental retardationSilent polymorphismF
208Hampson, ...
Pubmed: 10991689
c.377+11G>Cintronic variationIntronic variationIntronicRett syndrome - Not certainPolymorphism not causing diseaseF
1023Couvert, ...
Pubmed: 11309367
c.377+22C>Gintronic variationIntronic variationIntronicNot Rett synd. - X-linked mental retardationPolymorphism not causing diseaseM
1356Laccone, ...
Pubmed: 11241840
c.377+2T>Gintronic variationIntronic variationIntronicRett syndrome - Not certainUnknownU
1382Lam, ...
Pubmed: 11106359
c.377+6_377+9delintronic variationIntronic variationIntronicNot Rett synd. - autism onlyUnknownF
1383Lam, ...
Pubmed: 11106359
c.377+22C>Gintronic variationIntronic variationIntronicNot knownPolymorphism not causing diseaseU
1384Lam, ...
Pubmed: 11106359
c.377+22C>Gintronic variationIntronic variationIntronicNot knownPolymorphism not causing diseaseU
1562Beyer, ...
Pubmed: 12384770
c.377+22C>Gintronic variationIntronic variationIntronicNot Rett synd. - autism onlyPolymorphism not causing diseaseM
1563Beyer, ...
Pubmed: 12384770
c.377+95G>Aintronic variationIntronic variationIntronicNot Rett synd. - autism onlyPolymorphism not causing diseaseM
1583Beyer, ...
Pubmed: 12384770
c.377+22C>Gintronic variationIntronic variationIntronicNot Rett synd. - autism onlyPolymorphism not causing diseaseM
1584Beyer, ...
Pubmed: 12384770
c.377+22C>Gintronic variationIntronic variationIntronicNot Rett synd. - Unaffected family memberPolymorphism not causing diseaseF
1585Beyer, ...
Pubmed: 12384770
c.377+22C>Gintronic variationIntronic variationIntronicNot Rett synd. - Unaffected family memberPolymorphism not causing diseaseF
1586Beyer, ...
Pubmed: 12384770
c.377+95G>Aintronic variationIntronic variationIntronicNot Rett synd. - Unaffected family memberPolymorphism not causing diseaseF
1705Friez, ...
c.377+22C>Gintronic variationIntronic variationIntronicNot knownPolymorphism not causing diseaseF
1829Bunyan, ...
c.377+22C>Gintronic variationIntronic variationIntronicRett syndrome - Not certainPolymorphism not causing diseaseF
1975Tero Ylisaukko-oja, ...
Pubmed: 15578581
c.377+22C>Gintronic variationIntronic variationIntronicNot Rett synd. - Sporadic mental retardationPolymorphism not causing diseaseM
2384Akane Shibayama, ...
Pubmed: 15211631
c.377+22C>Gintronic variationIntronic variationIntronicNot Rett synd. - PhobiaPolymorphism not causing diseaseF
2385Akane Shibayama, ...
Pubmed: 15211631
c.377+22C>Gintronic variationIntronic variationIntronicNot Rett synd. - AlcoholismPolymorphism not causing diseaseM
2386Akane Shibayama, ...
Pubmed: 15211631
c.377+22C>Gintronic variationIntronic variationIntronicNot Rett synd. - AlcoholismPolymorphism not causing diseaseM
2630Zahorakova, ...
Pubmed: 17387578
c.377+22C>Gintronic variationintronic variationintronicRett syndrome - ClassicalPolymorphism not causing diseaseF
2631Zahorakova, ...
Pubmed: 17387578
c.377+22C>Gintronic variationintronic variationintronicRett syndrome - ClassicalPolymorphism not causing diseaseF
2662Coutinho, ...
Pubmed: 17427193
c.377+18C>Gintronic variationintronic variationintronicNot Rett synd. - AutismUnknownU
2745Campos, ...
Pubmed: 17084570
c.377+24C>Aintronic variationintronic variationintronicNot Rett synd. - mental retardationUnknownM
3763Fukuda, ...
Pubmed: 15737703
c.377+1G>Tintronic variationintronic variationintronicRett syndrome - classicalMutation associated with diseaseF
3935Campos, ...
Pubmed: 17084570
c.377+24C>Aintronic variationintronic variationintronicNot Rett synd. - unaffected family memberUnknownF
3936Campos, ...
Pubmed: 17084570
c.377+24C>Aintronic variationintronic variationintronicNot Rett synd. - unaffected family memberUnknownF
4094Milunsky, ...
Pubmed: 11960578
c.377A>Gp.N126SmissenseMBDNot Rett synd. - microcephaly, neonatal seizuresUnknownF
4199Maiwald, ...
Pubmed: 12481990
c.377+266T>Cintronic variationintronic variationintronicNot Rett synd. - unaffected family memberPolymorphism not causing diseaseF
4348Monnerat, ...
Pubmed: 20031356
c.377+1G>Aintronic variationintronic variationintronicRett syndrome - ClassicalMutation associated with diseaseF
4388Monnerat, ...
Pubmed: 20031356
c.377+22C>Gintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseF
5141Maortua, ...
Pubmed: 23810759
c.377+22C>Gintronic variationintronic variationintronicRett syndrome - not certainPolymorphism not causing diseaseF
5142Maortua, ...
Pubmed: 23810759
c.377+22C>Gintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5143Maortua, ...
Pubmed: 23810759
c.377+28A>Gintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5144Maortua, ...
Pubmed: 23810759
c.377+30G>Aintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
6620Directly submitted
c.377A>Tp.N126ImissenseMBDNot Rett synd. - infant-onset encephalopathyUnknownM
6847Daniela Zahorakova, ...
Pubmed: 26984561
c.377+22C>Gintronic variationintronicintronicNot Rett synd. - mental retardationPolymorphism not causing diseaseF
20Bunyan, ...
c.378-17delTintronic variationIntronic variationIntronicRett syndrome - Not certainPolymorphism not causing diseaseF
103Hoffbuhr, ...
Pubmed: 11402105
c.378-2A>Gintronic variationintronic variationintronicRett syndrome - Not certainMutation associated with diseaseF
124Huppke, ...
Pubmed: 10814718
c.378-2A>Gintronic variationIntronic variationIntronicRett syndrome - Not certainMutation associated with diseaseF
207Hampson, ...
Pubmed: 10991689
c.378-17delTintronic variationIntronic variationIntronicRett syndrome - Not certainPolymorphism not causing diseaseF
212Orrico, ...
Pubmed: 11007980
c.378-61C>Gintronic variationIntronic variationIntronicNot Rett synd. - Sporadic mental retardationUnknownF
253Bourdon, ...
Pubmed: 11214906
c.378-2A>Cintronic variationIntronic variationIntronicRett syndrome - Not certainMutation associated with diseaseU
284Trappe, ...
Pubmed: 11309679
c.378-2A>Gintronic variationIntronic variationIntronicRett syndrome - Not certainMutation associated with diseaseF
470Directly submitted
c.378-17delTintronic variationIntronic variationIntronicRett syndrome - AtypicalPolymorphism not causing diseaseF
1108Buyse, ...
Pubmed: 11055898
c.378-2A>Gintronic variationIntronic variationIntronicRett syndrome - Not certainMutation associated with diseaseF
1233Erlandson, ...
Pubmed: 11469283
c.378-17delTintronic variationIntronic variationIntronicNot Rett synd. - Unaffected family memberPolymorphism not causing diseaseF
1372Laccone, ...
Pubmed: 11241840
c.378-17delTintronic variationIntronic variationIntronicRett syndrome - Not certainPolymorphism not causing diseaseU
1433Nicolao, ...
Pubmed: 11462237
c.378-241C>Tintronic variationIntronic variationIntronicRett syndrome - ClassicalPolymorphism not causing diseaseF
1575Beyer, ...
Pubmed: 12384770
c.378-17delTintronic variationIntronic variationIntronicNot Rett synd. - autism onlyPolymorphism not causing diseaseM
1596Bunyan, ...
c.378-17delTintronic variationIntronic variationIntronicRett syndrome - Not certainPolymorphism not causing diseaseF
1597Bunyan, ...
c.378-17delTintronic variationIntronic variationIntronicNot Rett synd. - Unaffected family memberPolymorphism not causing diseaseU
1638Bunyan, ...
c.378-17delTintronic variationIntronic variationIntronicRett syndrome - Not certainPolymorphism not causing diseaseF
1646Bunyan, ...
c.378-17delTintronic variationIntronic variationIntronicRett syndrome - Not certainPolymorphism not causing diseaseF
1647Directly submitted
c.378-17delTintronic variationIntronic variationIntronicRett syndrome - Not certainPolymorphism not causing diseaseF
1677Friez, ...
c.378-2A>Cintronic variationIntronic variationIntronicNot knownMutation associated with diseaseF
1817Rosa, ...
Pubmed: 12707062
c.378-17delTintronic variationIntronic variationIntronicNot Rett synd. - Not certainPolymorphism not causing diseaseM
1818Rosa, ...
Pubmed: 12707062
c.378-17delTintronic variationIntronic variationIntronicNot Rett synd. - Not certainPolymorphism not causing diseaseM
1825Bunyan, ...
c.378-17delTintronic variationIntronic variationIntronicRett syndrome - Not certainPolymorphism not causing diseaseF
1864Bunyan, ...
c.378-?_*?delp.N126fsexon deletionMBDRett syndrome - Not certainMutation associated with diseaseF
1917Boulanger, ...
c.378-?_*?delp.N126fsexon deletionMBDRett syndrome - Not certainMutation associated with diseaseF
1976Tero Ylisaukko-oja, ...
Pubmed: 15578581
c.378-17delTintronic variationIntronic variationIntronicNot Rett synd. - Sporadic mental retardationPolymorphism not causing diseaseM
1977Tero Ylisaukko-oja, ...
Pubmed: 15578581
c.378-17delTintronic variationIntronic variationIntronicNot Rett synd. - Sporadic mental retardationPolymorphism not causing diseaseM
2024Directly submitted
c.378-17delTintronic variationIntronic variationIntronicNot knownPolymorphism not causing diseaseF
2027Directly submitted
c.378-17delTintronic variationIntronic variationIntronicNot knownPolymorphism not causing diseaseF
2051Directly submitted
c.378-17delTintronic variationIntronic variationIntronicNot knownPolymorphism not causing diseaseF
2056Directly submitted
c.378-74C>Tintronic variationIntronic variationIntronicNot knownPolymorphism not causing diseaseF
2057Directly submitted
c.378-74C>Tintronic variationIntronic variationIntronicNot knownPolymorphism not causing diseaseF
2063Directly submitted
c.378-17delTintronic variationIntronic variationIntronicNot knownPolymorphism not causing diseaseF
2102Cardiff, ...
c.378-3C>Gintronic variationIntronic variationIntronicRett syndrome - ClassicalMutation associated with diseaseF
2387Akane Shibayama, ...
Pubmed: 15211631
c.378-17delTintronic variationIntronic variationIntronicNot Rett synd. - AlcoholismPolymorphism not causing diseaseM
2517Tejada M-I, ...
Pubmed: 16879196
c.378-17delTintronic variationIntronic variationIntronicNot Rett synd. - Sporadic mental retardationPolymorphism not causing diseaseF
2518Tejada M-I, ...
Pubmed: 16879196
c.378-17delTintronic variationIntronic variationIntronicNot Rett synd. - Sporadic mental retardationPolymorphism not causing diseaseF
2642Zahorakova, ...
Pubmed: 17387578
c.378-17delTintronic variationintronic variationintronicRett syndrome - ClassicalPolymorphism not causing diseaseF
2649Lesca, ...
Pubmed: 17383248
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - sporadic mental retardationPolymorphism not causing diseaseU
2650Lesca, ...
Pubmed: 17383248
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - sporadic mental retardationPolymorphism not causing diseaseU
2651Lesca, ...
Pubmed: 17383248
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - sporadic mental retardationPolymorphism not causing diseaseU
2663Coutinho, ...
Pubmed: 17427193
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - AutismPolymorphism not causing diseaseU
2764Moog, ...
Pubmed: 16376510
c.378-74C>Tintronic variationintronic variationintronicNot Rett synd. - mental retardationPolymorphism not causing diseaseM
2765Moog, ...
Pubmed: 16376510
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - mental retardationPolymorphism not causing diseaseM
2766Moog, ...
Pubmed: 16376510
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - mental retardationPolymorphism not causing diseaseM
2780Donzel-Javouhey, ...
Pubmed: 16763963
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - non-specfic mental retardationPolymorphism not causing diseaseF
2786Pan, ...
Pubmed: 17026625
c.378-?_1337+?delp.N126fsexon deletionMBDRett syndrome - classicalMutation associated with diseaseF
2788Pan, ...
Pubmed: 17026625
c.378-?_1185+?delp.N126fsexon deletionMBDRett syndrome - classicalMutation associated with diseaseF
2792Pan, ...
Pubmed: 17026625
c.378-?_1337+?delp.N126fsexon deletionMBDRett syndrome - classicalMutation associated with diseaseF
3325Philippe C, ...
Pubmed: 16473305
c.378-?_*?delp.N126fsexon deletionMBDRett syndrome - not certainMutation associated with diseaseF
3326Philippe C, ...
Pubmed: 16473305
c.378-?_*?delp.N126fsexon deletionMBDRett syndrome - not certainMutation associated with diseaseF
3327Philippe C, ...
Pubmed: 16473305
c.378-?_*?delp.N126fsexon deletionMBDRett syndrome - not certainMutation associated with diseaseF
3328Philippe C, ...
Pubmed: 16473305
c.378-?_*?delp.N126fsexon deletionMBDRett syndrome - not certainMutation associated with diseaseF
3329Philippe C, ...
Pubmed: 16473305
c.378-?_*?delp.N126fsexon deletionMBDRett syndrome - not certainMutation associated with diseaseF
3330Philippe C, ...
Pubmed: 16473305
c.378-?_*?delp.N126fsexon deletionMBDRett syndrome - not certainMutation associated with diseaseF
3351Laccone, ...
Pubmed: 14974082
c.378-?_*?delp.N126fsexon deletionMBDRett syndrome - not certainMutation associated with diseaseF
3352Laccone, ...
Pubmed: 14974082
c.378-?_*?delp.N126fsexon deletionMBDRett syndrome - not certainMutation associated with diseaseF
3594Li, ...
Pubmed: 17089071
c.378-2A>Tintronic variationintronic variationintronicRett syndrome - not certainMutation associated with diseaseF
3618Li, ...
Pubmed: 17089071
c.378-?_1170+?delp.N126fsframeshift insertion or deletionMBDRett syndrome - not certainMutation associated with diseaseF
3764Fukuda, ...
Pubmed: 15737703
c.378-3C>Gintronic variationintronic variationintronicRett syndrome - classicalMutation associated with diseaseF
3781Archer HL, ...
Pubmed: 16183801
c.378-?_*?delp.N126fsexon deletionMBDRett syndrome - classicalMutation associated with diseaseF
3799Khajuria R, ...
c.378-74C>Tintronic variationintronic variationintronicRett syndrome - classicalPolymorphism not causing diseaseF
3827Schule, ...
Pubmed: 18477000
c.378-3_383del9p.N126KfsX11frameshift insertion or deletionMBDNot Rett synd. - Severe congenital encephalopathyMutation associated with diseaseM
3918Lesca, ...
Pubmed: 17383248
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
3921Lesca, ...
Pubmed: 17383248
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
3922Lesca, ...
Pubmed: 17383248
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
3923Lesca, ...
Pubmed: 17383248
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
3924Moog, ...
Pubmed: 16376510
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseM
3925Moog, ...
Pubmed: 16376510
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseM
3926Moog, ...
Pubmed: 16376510
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseF
3927Moog, ...
Pubmed: 16376510
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseF
3928Moog, ...
Pubmed: 16376510
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseF
3931Moog, ...
Pubmed: 16376510
c.378-74C>Tintronic variationintronic variationintronicNot Rett synd. - unaffected family memberPolymorphism not causing diseaseM
3932Moog, ...
Pubmed: 16376510
c.378-74C>Tintronic variationintronic variationintronicNot Rett synd. - unaffected family memberPolymorphism not causing diseaseF
3976Zahorakova, ...
Pubmed: 17387578
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - unaffected family memberPolymorphism not causing diseaseM
3990Coutinho, ...
Pubmed: 17427193
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
3991Coutinho, ...
Pubmed: 17427193
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
3992Coutinho, ...
Pubmed: 17427193
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
3993Coutinho, ...
Pubmed: 17427193
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
3994Coutinho, ...
Pubmed: 17427193
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4349Monnerat, ...
Pubmed: 20031356
c.378-109A>Gintronic variationintronic variationintronicRett syndrome - AtypicalPolymorphism not causing diseaseF
4350Monnerat, ...
Pubmed: 20031356
c.378-109A>Gintronic variationintronic variationintronicRett syndrome - AtypicalPolymorphism not causing diseaseF
4351Monnerat, ...
Pubmed: 20031356
c.378-14G>Aintronic variationintronic variationintronicRett syndrome - ClassicalUnknownF
4352Monnerat, ...
Pubmed: 20031356
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - unaffected family memberPolymorphism not causing diseaseF
4353Monnerat, ...
Pubmed: 20031356
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseF
4354Monnerat, ...
Pubmed: 20031356
c.378-74C>Tintronic variationintronic variationintronicRett syndrome - ClassicalPolymorphism not causing diseaseF
4355Monnerat, ...
Pubmed: 20031356
c.378-74C>Tintronic variationintronic variationintronicRett syndrome - ClassicalPolymorphism not causing diseaseF
4356Monnerat, ...
Pubmed: 20031356
c.378-74C>Tintronic variationintronic variationintronicRett syndrome - ClassicalPolymorphism not causing diseaseF
4357Monnerat, ...
Pubmed: 20031356
c.378-74C>Tintronic variationintronic variationintronicRett syndrome - ClassicalPolymorphism not causing diseaseF
4358Monnerat, ...
Pubmed: 20031356
c.378-74C>Tintronic variationintronic variationintronicRett syndrome - ClassicalPolymorphism not causing diseaseF
4390Monnerat, ...
Pubmed: 20031356
c.378-109A>Gintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseF
5082Wang, ...
Pubmed: 23591336
c.378-74C>Tintronic variationintronic variationintronicNot Rett synd. - autismPolymorphism not causing diseaseM
5083Wang, ...
Pubmed: 23591336
c.378-74C>Tintronic variationintronic variationintronicNot Rett synd. - autismPolymorphism not causing diseaseM
5084Wang, ...
Pubmed: 23591336
c.378-74C>Tintronic variationintronic variationintronicNot Rett synd. - autismPolymorphism not causing diseaseM
5085Wang, ...
Pubmed: 23591336
c.378-74C>Tintronic variationintronic variationintronicNot Rett synd. - autismPolymorphism not causing diseaseM
5086Wang, ...
Pubmed: 23591336
c.378-74C>Tintronic variationintronic variationintronicNot Rett synd. - autismPolymorphism not causing diseaseM
5087Wang, ...
Pubmed: 23591336
c.378-74C>Tintronic variationintronic variationintronicNot Rett synd. - autismPolymorphism not causing diseaseM
5088Wang, ...
Pubmed: 23591336
c.378-74C>Tintronic variationintronic variationintronicNot Rett synd. - autismPolymorphism not causing diseaseM
5089Wang, ...
Pubmed: 23591336
c.378-74C>Tintronic variationintronic variationintronicNot Rett synd. - autismPolymorphism not causing diseaseM
5090Wang, ...
Pubmed: 23591336
c.378-74C>Tintronic variationintronic variationintronicNot Rett synd. - autismPolymorphism not causing diseaseM
5091Wang, ...
Pubmed: 23591336
c.378-74C>Tintronic variationintronic variationintronicNot Rett synd. - autismPolymorphism not causing diseaseM
5092Wang, ...
Pubmed: 23591336
c.378-74C>Tintronic variationintronic variationintronicNot Rett synd. - autismPolymorphism not causing diseaseM
5093Wang, ...
Pubmed: 23591336
c.378-74C>Tintronic variationintronic variationintronicNot Rett synd. - autismPolymorphism not causing diseaseM
5094Wang, ...
Pubmed: 23591336
c.378-74C>Tintronic variationintronic variationintronicNot Rett synd. - autismPolymorphism not causing diseaseM
5095Wang, ...
Pubmed: 23591336
c.378-74C>Tintronic variationintronic variationintronicNot Rett synd. - autismPolymorphism not causing diseaseM
5096Wang, ...
Pubmed: 23591336
c.378-74C>Tintronic variationintronic variationintronicNot Rett synd. - autismPolymorphism not causing diseaseM
5097Wang, ...
Pubmed: 23591336
c.378-74C>Tintronic variationintronic variationintronicNot Rett synd. - autismPolymorphism not causing diseaseM
5098Wang, ...
Pubmed: 23591336
c.378-74C>Tintronic variationintronic variationintronicNot Rett synd. - autismPolymorphism not causing diseaseM
5145Maortua, ...
Pubmed: 23810759
c.378-70C>Gintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5146Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicRett syndrome - not certainPolymorphism not causing diseaseF
5147Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicRett syndrome - not certainPolymorphism not causing diseaseF
5148Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicRett syndrome - not certainPolymorphism not causing diseaseF
5149Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicRett syndrome - not certainPolymorphism not causing diseaseF
5150Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicRett syndrome - not certainPolymorphism not causing diseaseF
5151Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicRett syndrome - not certainPolymorphism not causing diseaseF
5152Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicRett syndrome - not certainPolymorphism not causing diseaseF
5153Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicRett syndrome - not certainPolymorphism not causing diseaseF
5154Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicRett syndrome - not certainPolymorphism not causing diseaseF
5155Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5156Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5157Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5158Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5159Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5160Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5161Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5162Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5163Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5164Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5165Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5166Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5167Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5168Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5169Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5170Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5171Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5172Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5173Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5174Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5175Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5176Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5177Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5178Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5179Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5180Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5181Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5182Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5183Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
5184Maortua, ...
Pubmed: 23810759
c.378-17delTintronic variationintronic variationintronicNot Rett synd. - normal controlPolymorphism not causing diseaseU
6603Directly submitted
c.378-2A>Cintronic variationintronic variationintronicRett syndrome - classicalMutation associated with diseaseF
6350Directly submitted
c.378-3C>Gintronic variationintronic variationintronicRett syndrome - classicalMutation associated with diseaseF
6852Daniela Zahorakova, ...
Pubmed: 26984561
c.378-17delTintronic variationintronicintronicNot Rett synd. - mental retardationPolymorphism not causing diseaseF
6851Daniela Zahorakova, ...
Pubmed: 26984561
c.378-17delTintronic variationintronicintronicNot Rett synd. - autismPolymorphism not causing diseaseF
6850Daniela Zahorakova, ...
Pubmed: 26984561
c.378-17delTintronic variationintronicintronicNot Rett synd. - autismPolymorphism not causing diseaseF
6849Daniela Zahorakova, ...
Pubmed: 26984561
c.378-65C>Gintronic variationintronicintronicNot Rett synd. - mental retardationPolymorphism not causing diseaseF
6848Daniela Zahorakova, ...
Pubmed: 26984561
c.378-74C>Tintronic variationintronicintronicNot Rett synd. - mental retardationPolymorphism not causing diseaseF
291Auranen, ...
Pubmed: 11245712
c.380C>Tp.P127LMissenseMBDRett syndrome - Preserved speechUnknownF
2457Directly submitted
c.380C>Tp.P127LMissenseMBDRett syndrome - ClassicalUnknownF
3096Philippe C, ...
Pubmed: 16473305
c.380C>Tp.P127LmissenseMBDRett syndrome - not certainUnknownF
3426Bienvenu T, ...
Pubmed: 12180070
c.380C>Tp.P127LmissenseMBDRett syndrome - not certainUnknownF
4095Milunsky, ...
Pubmed: 11960578
c.380C>Tp.P127LmissenseMBDRett syndrome - classicalUnknownF
3169Philippe C, ...
Pubmed: 16473305
c.382C>Tp.Q128XnonsenseMBDRett syndrome - not certainMutation associated with diseaseF
3258Philippe C, ...
Pubmed: 16473305
c.382_1189del808p.Q128fsframeshift insertion or deletionMBDRett syndrome - not certainMutation associated with diseaseF
4911Kim, ...
Pubmed: 22476991
c.382C>Tp.Q128XnonsenseMBDRett syndrome - not certainMutation associated with diseaseF
2867Smeets, ...
Pubmed: 12966523
c.383A>Cp.Q128PmissenseMBDRett syndrome - late regressionUnknownF
2137Cardiff, ...
c.386G>Tp.G129VMissenseMBDNot knownUnknownF
3528Li, ...
Pubmed: 17089071
c.386G>Tp.G129VmissenseMBDRett syndrome - not certainUnknownF
6636Directly submitted
c.390dupAp.A131fsframeshift insertion or deletionMBDRett syndrome - classicalMutation associated with diseaseF
3623Fukuda, ...
Pubmed: 15737703
c.392C>Ap.A131DmissenseMBDRett syndrome - classicalUnknownF
6760Daniela Zahorakova, ...
Pubmed: 26984561
c.392C>Ap.A131DmissenseMBDRett syndrome - classicalMutation associated with diseaseF
1639Bunyan, ...
c.393C>Gp.A131ASilentMBDRett syndrome - Not certainSilent polymorphismF
2496Tjitske Kleefstra, ...
Pubmed: 14560307
c.393C>Gp.A131ASilentMBDNot Rett synd. - Prader-Willi syndromeSilent polymorphismM
2664Coutinho, ...
Pubmed: 17427193
c.393C>Gp.A131AsilentMBDNot Rett synd. - AutismSilent polymorphismU
3995Coutinho, ...
Pubmed: 17427193
c.393C>Gp.A131AsilentMBDNot Rett synd. - non-Rett syndrome controlSilent polymorphismU
7Bunyan, ...
c.397C>Tp.R133CMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
16Bunyan, ...
c.397C>Tp.R133CMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
56Hoffbuhr, ...
Pubmed: 11402105
c.397C>Tp.R133CMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
57Hoffbuhr, ...
Pubmed: 11402105
c.397C>Tp.R133CMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
105Huppke, ...
Pubmed: 10814718
c.397C>Tp.R133CMissenseMBDRett syndrome - Preserved speechMutation associated with diseaseF
156Obata, ...
Pubmed: 10991688
c.397C>Tp.R133CMissenseMBDRett syndrome - Preserved speechMutation associated with diseaseF
157Obata, ...
Pubmed: 10991688
c.397C>Tp.R133CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
158Obata, ...
Pubmed: 10991688
c.397C>Tp.R133CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
263Trappe, ...
Pubmed: 11309679
c.397C>Tp.R133CMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
264Trappe, ...
Pubmed: 11309679
c.397C>Tp.R133CMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
288Trappe, ...
Pubmed: 11309679
c.397C>Tp.R133CMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
292Auranen, ...
Pubmed: 11245712
c.397C>Tp.R133CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
293Auranen, ...
Pubmed: 11245712
c.397C>Tp.R133CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
294Auranen, ...
Pubmed: 11245712
c.397C>Tp.R133CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
355Directly submitted
c.397C>Tp.R133CMissenseMBDRett syndrome - AtypicalMutation associated with diseaseF
377Directly submitted
c.397C>Tp.R133CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
380Directly submitted
c.397C>Tp.R133CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
383Directly submitted
c.397C>Tp.R133CMissenseMBDNot knownMutation associated with diseaseF
400Directly submitted
c.397C>Tp.R133CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
411Directly submitted
c.397C>Tp.R133CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
418Directly submitted
c.397C>Tp.R133CMissenseMBDRett syndrome - AtypicalMutation associated with diseaseF
451Directly submitted
c.397C>Tp.R133CMissenseMBDRett syndrome - AtypicalMutation associated with diseaseF
880Directly submitted
c.397C>Tp.R133CMissenseMBDRett syndrome - Forme frusteMutation associated with diseaseU
881Directly submitted
c.397C>Tp.R133CMissenseMBDRett syndrome - Preserved speechMutation associated with diseaseU
866Xiang, ...
Pubmed: 10745042
c.397C>Tp.R133CMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
839Amir, ...
Pubmed: 10508514
c.397C>Tp.R133CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseU
1030Buyse, ...
Pubmed: 11055898
c.397C>Tp.R133CMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1175Zappella, ...
Pubmed: 11746022
c.397C>Tp.R133CMissenseMBDRett syndrome - Preserved speechMutation associated with diseaseF
1176Zappella, ...
Pubmed: 11746022
c.397C>Tp.R133CMissenseMBDRett syndrome - Preserved speechMutation associated with diseaseF
1219Chae, ...
Pubmed: 11913567
c.397C>Tp.R133CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1224Erlandson, ...
Pubmed: 11469283
c.397C>Tp.R133CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1280Laccone, ...
Pubmed: 11241840
c.397C>Tp.R133CMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
1281Laccone, ...
Pubmed: 11241840
c.397C>Tp.R133CMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
1282Laccone, ...
Pubmed: 11241840
c.397C>Tp.R133CMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
1283Laccone, ...
Pubmed: 11241840
c.397C>Tp.R133CMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
1284Laccone, ...
Pubmed: 11241840
c.397C>Tp.R133CMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
1285Laccone, ...
Pubmed: 11241840
c.397C>Tp.R133CMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
1395Nicolao, ...
Pubmed: 11462237
c.397C>Tp.R133CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1438Vacca, ...
Pubmed: 11269512
c.397C>Tp.R133CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1439Vacca, ...
Pubmed: 11269512
c.397C>Tp.R133CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1440Vacca, ...
Pubmed: 11269512
c.397C>Tp.R133CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1504Yamada, ...
Pubmed: 11524741
c.397C>Tp.R133CMissenseMBDRett syndrome - atypicalMutation associated with diseaseU
1505Yamada, ...
Pubmed: 11524741
c.397C>Tp.R133CMissenseMBDRett syndrome - atypicalMutation associated with diseaseU
1610Bunyan, ...
c.397C>Tp.R133CMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1624Bunyan, ...
c.397C>Tp.R133CMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1628Bunyan, ...
c.397C>Tp.R133CMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1644Bunyan, ...
c.397C>Tp.R133CMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1675Friez, ...
c.397C>Tp.R133CMissenseMBDNot knownMutation associated with diseaseF
1704Friez, ...
c.397C>Tp.R133CMissenseMBDNot knownMutation associated with diseaseF
1708Friez, ...
c.397C>Tp.R133CMissenseMBDNot knownMutation associated with diseaseF
1712Friez, ...
c.397C>Tp.R133CMissenseMBDNot knownMutation associated with diseaseF
1719Friez, ...
c.397C>Tp.R133CMissenseMBDNot knownMutation associated with diseaseF
1725Friez, ...
c.397C>Tp.R133CMissenseMBDNot knownMutation associated with diseaseF
1743Friez, ...
c.397C>Tp.R133CMissenseMBDNot knownMutation associated with diseaseF
1767Friez, ...
c.397C>Tp.R133CMissenseMBDNot knownMutation associated with diseaseF
1770Friez, ...
c.397C>Tp.R133CMissenseMBDNot knownMutation associated with diseaseF
1798Friez, ...
c.397C>Gp.R133GMissenseMBDNot knownUnknownF
1806Friez, ...
c.397C>Tp.R133CMissenseMBDNot knownMutation associated with diseaseF
1813Friez, ...
c.397C>Tp.R133CMissenseMBDNot knownMutation associated with diseaseF
1816Friez, ...
c.397C>Tp.R133CMissenseMBDNot knownMutation associated with diseaseF
1869Bunyan, ...
c.397C>Tp.R133CMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1961Schanen, ...
Pubmed: 15057977
c.397C>Tp.R133CMissenseMBDRett syndrome - classicalMutation associated with diseaseF
1997Tatsuo Masuyama, ...
Pubmed: 16122633
c.397C>Tp.R133CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseM
1998Tatsuo Masuyama, ...
Pubmed: 16122633
c.397C>Tp.R133CMissenseMBDNot Rett synd. - Sporadic mental retardationMutation associated with diseaseF
1999Tatsuo Masuyama, ...
Pubmed: 16122633
c.397C>Tp.R133CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2013Directly submitted
c.397C>Tp.R133CMissenseMBDNot knownMutation associated with diseaseF
2028Directly submitted
c.397C>Tp.R133CMissenseMBDNot knownMutation associated with diseaseF
2038Directly submitted
c.397C>Tp.R133CMissenseMBDNot knownMutation associated with diseaseF
2208Cardiff, ...
c.397C>Tp.R133CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2209Cardiff, ...
c.397C>Tp.R133CMissenseMBDRett syndrome - AtypicalMutation associated with diseaseF
2210Cardiff, ...
c.397C>Tp.R133CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2211Cardiff, ...
c.397C>Tp.R133CMissenseMBDRett syndrome - AtypicalMutation associated with diseaseF
2212Cardiff, ...
c.397C>Tp.R133CMissenseMBDRett syndrome - AtypicalMutation associated with diseaseF
2213Cardiff, ...
c.397C>Tp.R133CMissenseMBDRett syndrome - AtypicalMutation associated with diseaseF
2214Cardiff, ...
c.397C>Tp.R133CMissenseMBDNot Rett synd. - Unaffected family memberMutation associated with diseaseF
2215Cardiff, ...
c.397C>Tp.R133CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2216Cardiff, ...
c.397C>Tp.R133CMissenseMBDRett syndrome - AtypicalMutation associated with diseaseF
2217Cardiff, ...
c.397C>Tp.R133CMissenseMBDRett syndrome - AtypicalMutation associated with diseaseF
2218Cardiff, ...
c.397C>Tp.R133CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2219Cardiff, ...
c.397C>Tp.R133CMissenseMBDRett syndrome - AtypicalMutation associated with diseaseF
2220Cardiff, ...
c.397C>Tp.R133CMissenseMBDRett syndrome - AtypicalMutation associated with diseaseM
2221Cardiff, ...
c.397C>Tp.R133CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2222Cardiff, ...
c.397C>Tp.R133CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2223Cardiff, ...
c.397C>Tp.R133CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2224Cardiff, ...
c.397C>Tp.R133CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2389Michele Zappella, ...
Pubmed: 12707946
c.397C>Tp.R133CMissenseMBDRett syndrome - Preserved speechMutation associated with diseaseF
2399Monros, ...
Pubmed: 11738885
c.397C>Tp.R133CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2411Monros, ...
Pubmed: 11738885
c.397C>Tp.R133CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2430Directly submitted
c.397C>Tp.R133CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2447Monros, ...
Pubmed: 11738885
c.397C>Tp.R133CMissenseMBDRett syndrome - Preserved speechMutation associated with diseaseF
2475Directly submitted
c.397C>Tp.R133CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2482Directly submitted
c.397C>Tp.R133CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2491Tjitske Kleefstra, ...
Pubmed: 14560307
c.397C>Tp.R133CMissenseMBDNot Rett synd. - Angelman syndromeMutation associated with diseaseF
2539Matijevic, ...
Pubmed: 17341617
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
2571Zahorakova, ...
Pubmed: 17387578
c.397C>Tp.R133CmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2572Zahorakova, ...
Pubmed: 17387578
c.397C>Tp.R133CmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2573Zahorakova, ...
Pubmed: 17387578
c.397C>Tp.R133CmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2574Zahorakova, ...
Pubmed: 17387578
c.397C>Tp.R133CmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2575Zahorakova, ...
Pubmed: 17387578
c.397C>Tp.R133CmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2576Zahorakova, ...
Pubmed: 17387578
c.397C>Tp.R133CmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2805Kim, ...
Pubmed: 16672765
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
2806Kim, ...
Pubmed: 16672765
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
2856Conforti, ...
Pubmed: 12567420
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
2868Smeets, ...
Pubmed: 12966523
c.397C>Tp.R133CmissenseMBDRett syndrome - forme frusteMutation associated with diseaseF
2869Smeets, ...
Pubmed: 12966523
c.397C>Tp.R133CmissenseMBDRett syndrome - forme frusteMutation associated with diseaseF
2870Smeets, ...
Pubmed: 12966523
c.397C>Tp.R133CmissenseMBDRett syndrome - forme frusteMutation associated with diseaseF
2892Djarmati, ...
Pubmed: 17986102
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
2931Kammoun, ...
Pubmed: 15173251
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
2932Kammoun, ...
Pubmed: 15173251
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
2933Kammoun, ...
Pubmed: 15173251
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
2954Kammoun, ...
Pubmed: 15173251
c.397C>Tp.R133CmissenseMBDRett syndrome - atypicalMutation associated with diseaseF
2955Kammoun, ...
Pubmed: 15173251
c.397C>Tp.R133CmissenseMBDRett syndrome - atypicalMutation associated with diseaseF
2995Pan, ...
Pubmed: 12111643
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3097Philippe C, ...
Pubmed: 16473305
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3098Philippe C, ...
Pubmed: 16473305
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3099Philippe C, ...
Pubmed: 16473305
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3100Philippe C, ...
Pubmed: 16473305
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3101Philippe C, ...
Pubmed: 16473305
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3102Philippe C, ...
Pubmed: 16473305
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3103Philippe C, ...
Pubmed: 16473305
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3104Philippe C, ...
Pubmed: 16473305
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3105Philippe C, ...
Pubmed: 16473305
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3106Philippe C, ...
Pubmed: 16473305
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3107Philippe C, ...
Pubmed: 16473305
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3108Philippe C, ...
Pubmed: 16473305
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3109Philippe C, ...
Pubmed: 16473305
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3110Philippe C, ...
Pubmed: 16473305
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3366Nielsen JB, ...
Pubmed: 11313756
c.397C>Tp.R133CmissenseMBDRett syndrome - forme frusteMutation associated with diseaseF
3385Nielsen JB, ...
Pubmed: 11738879
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3393Yamashita Y, ...
Pubmed: 11738864
c.397C>Tp.R133CmissenseMBDRett syndrome - preserved speechMutation associated with diseaseF
3394Yamashita Y, ...
Pubmed: 11738864
c.397C>Tp.R133CmissenseMBDRett syndrome - preserved speechMutation associated with diseaseF
3427Bienvenu T, ...
Pubmed: 12180070
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3428Bienvenu T, ...
Pubmed: 12180070
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3429Bienvenu T, ...
Pubmed: 12180070
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3430Bienvenu T, ...
Pubmed: 12180070
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3431Bienvenu T, ...
Pubmed: 12180070
c.397C>Gp.R133GmissenseMBDRett syndrome - not certainUnknownF
3529Li, ...
Pubmed: 17089071
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3530Li, ...
Pubmed: 17089071
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3531Li, ...
Pubmed: 17089071
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3532Li, ...
Pubmed: 17089071
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3533Li, ...
Pubmed: 17089071
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3534Li, ...
Pubmed: 17089071
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3535Li, ...
Pubmed: 17089071
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3634Fukuda, ...
Pubmed: 15737703
c.397C>Tp.R133CmissenseMBDRett syndrome - atypicalMutation associated with diseaseF
3635Fukuda, ...
Pubmed: 15737703
c.397C>Tp.R133CmissenseMBDRett syndrome - atypicalMutation associated with diseaseF
3636Fukuda, ...
Pubmed: 15737703
c.397C>Tp.R133CmissenseMBDRett syndrome - atypicalMutation associated with diseaseF
3637Fukuda, ...
Pubmed: 15737703
c.397C>Tp.R133CmissenseMBDRett syndrome - atypicalMutation associated with diseaseF
3638Fukuda, ...
Pubmed: 15737703
c.397C>Tp.R133CmissenseMBDRett syndrome - preserved speechMutation associated with diseaseF
3639Fukuda, ...
Pubmed: 15737703
c.397C>Tp.R133CmissenseMBDRett syndrome - preserved speechMutation associated with diseaseF
3640Fukuda, ...
Pubmed: 15737703
c.397C>Tp.R133CmissenseMBDRett syndrome - preserved speechMutation associated with diseaseF
3641Fukuda, ...
Pubmed: 15737703
c.397C>Tp.R133CmissenseMBDRett syndrome - preserved speechMutation associated with diseaseF
3642Fukuda, ...
Pubmed: 15737703
c.397C>Tp.R133CmissenseMBDRett syndrome - preserved speechMutation associated with diseaseF
3643Fukuda, ...
Pubmed: 15737703
c.397C>Tp.R133CmissenseMBDRett syndrome - preserved speechMutation associated with diseaseF
3644Fukuda, ...
Pubmed: 15737703
c.397C>Tp.R133CmissenseMBDRett syndrome - preserved speechMutation associated with diseaseF
3790Inui, ...
Pubmed: 11376998
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
4062Lee SSJ, ...
Pubmed: 11738860
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
4117Milunsky, ...
Pubmed: 11960578
c.397C>Tp.R133CmissenseMBDNot knownMutation associated with diseaseF
4118Milunsky, ...
Pubmed: 11960578
c.397C>Tp.R133CmissenseMBDNot knownMutation associated with diseaseF
4119Milunsky, ...
Pubmed: 11960578
c.397C>Tp.R133CmissenseMBDNot knownMutation associated with diseaseF
4120Milunsky, ...
Pubmed: 11960578
c.397C>Tp.R133CmissenseMBDNot knownMutation associated with diseaseF
4121Milunsky, ...
Pubmed: 11960578
c.397C>Tp.R133CmissenseMBDNot knownMutation associated with diseaseF
4248de Lima, ...
Pubmed: 19722030
c.397C>Tp.R133CmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
4314Raizis, ...
Pubmed: 19652677
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
4359Monnerat, ...
Pubmed: 20031356
c.397C>Tp.R133CmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
4360Monnerat, ...
Pubmed: 20031356
c.397C>Tp.R133CmissenseMBDRett syndrome - AtypicalMutation associated with diseaseF
4361Monnerat, ...
Pubmed: 20031356
c.397C>Tp.R133CmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
4429Das, ...
c.397C>Tp.R133CmissenseMBDNot knownMutation associated with diseaseF
4430Das, ...
c.397C>Tp.R133CmissenseMBDNot knownMutation associated with diseaseF
4431Das, ...
c.397C>Tp.R133CmissenseMBDNot knownMutation associated with diseaseF
4432Das, ...
c.397C>Tp.R133CmissenseMBDNot knownMutation associated with diseaseF
4433Das, ...
c.397C>Tp.R133CmissenseMBDNot knownMutation associated with diseaseF
4434Das, ...
c.397C>T p.R133CmissenseMBDNot knownMutation associated with diseaseF
4435Das, ...
c.397C>T p.R133CmissenseMBDNot knownMutation associated with diseaseF
4436Das, ...
c.397C>T p.R133CmissenseMBDNot knownMutation associated with diseaseF
4732Hadzsiev, ...
Pubmed: 21160487
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
4733Hadzsiev, ...
Pubmed: 21160487
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
4734Hadzsiev, ...
Pubmed: 21160487
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
4735Hadzsiev, ...
Pubmed: 21160487
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
4809Corbani, ...
Pubmed: 21954873
c.397C>Tp.R133CmissenseMBDRett syndrome - atypicalMutation associated with diseaseF
4832Psoni, ...
Pubmed: 21982064
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
4833Psoni, ...
Pubmed: 21982064
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
4834Psoni, ...
Pubmed: 21982064
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
4835Psoni, ...
Pubmed: 21982064
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
4865Zvereff, ...
Pubmed: 22277191
c.397C>Tp.R133CmissenseMBDRett syndrome - preserved speechMutation associated with diseaseF
4917Kim, ...
Pubmed: 22476991
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
5045Das, ...
Pubmed: 23262346
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
5046Das, ...
Pubmed: 23262346
c.397C>Tp.R133CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
5123Maortua, ...
Pubmed: 23810759
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6729Daniela Zahorakova, ...
Pubmed: 26984561
c.397C>Tp.R133CmissenseMBDNot known - x-linked mental retardationMutation associated with diseaseF
6727Daniela Zahorakova, ...
Pubmed: 26984561
c.397C>Tp.R133CmissenseMBDRett syndrome - preserved speechMutation associated with diseaseF
6728Daniela Zahorakova, ...
Pubmed: 26984561
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6601Directly submitted
c.397C>Tp.R133CmissenseMBDNot Rett synd. - mental retardationMutation associated with diseaseF
6600Directly submitted
c.397C>Tp.R133CmissenseMBDNot Rett synd. - mental retardationMutation associated with diseaseM
6563Directly submitted
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6562Directly submitted
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6561Directly submitted
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6560Directly submitted
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6559Directly submitted
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6558Directly submitted
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6557Directly submitted
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6556Directly submitted
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6555Directly submitted
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6554Directly submitted
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6553Directly submitted
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6552Directly submitted
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6551Directly submitted
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6550Directly submitted
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6549Directly submitted
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6548Directly submitted
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6547Directly submitted
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6546Directly submitted
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6545Directly submitted
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6544Directly submitted
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6543Directly submitted
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6542Directly submitted
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6541Directly submitted
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6540Directly submitted
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6539Directly submitted
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6538Directly submitted
c.397C>Tp.R133CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6994Qingping Zhang, ...
Pubmed: 28394482
c.397C > T missenseMBDRett syndrome - preserved speechMutation associated with diseaseF
6995Qingping Zhang, ...
Pubmed: 28394482
c.397C > T missenseMBDNot Rett synd. - x-linked mental retardationMutation associated with diseaseM
6997Qingping Zhang, ...
Pubmed: 28394482
c.397C > T missenseMBDRett syndrome - classicalMutation associated with diseaseF
29Hoffbuhr, ...
Pubmed: 11402105
c.398G>Ap.R133HMissenseMBDRett syndrome - Not certainUnknownF
329De Bona, ...
Pubmed: 10854091
c.398G>Tp.R133LMissenseMBDRett syndrome - ClassicalUnknownF
433Directly submitted
c.398G>Ap.R133HMissenseMBDRett syndrome - AtypicalUnknownF
2226Cardiff, ...
c.398G>Ap.R133HMissenseMBDRett syndrome - ClassicalUnknownF
3111Philippe C, ...
Pubmed: 16473305
c.398G>Ap.R133HmissenseMBDRett syndrome - not certainUnknownF
3432Bienvenu T, ...
Pubmed: 12180070
c.398G>Ap.R133HmissenseMBDRett syndrome - not certainUnknownF
3536Li, ...
Pubmed: 17089071
c.398G>Ap.R133HmissenseMBDRett syndrome - not certainUnknownF
3537Li, ...
Pubmed: 17089071
c.398G>Ap.R133HmissenseMBDRett syndrome - not certainUnknownF
5112Directly submitted
c.398G>Ap.R133HmissenseMBDRett syndrome - atypicalUnknownF
6576Directly submitted
c.398G>Cp.R133PmissenseMBDRett syndrome - classicalMutation associated with diseaseF
4247de Lima, ...
Pubmed: 19722030
c.400T>Cp.S134PmissenseMBDRett syndrome - ClassicalUnknownF
106Huppke, ...
Pubmed: 10814718
c.401C>Gp.S134CMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
159Obata, ...
Pubmed: 10991688
c.401C>Gp.S134CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
361Directly submitted
c.401C>Gp.S134CMissenseMBDRett syndrome - AtypicalMutation associated with diseaseF
1441Vacca, ...
Pubmed: 11269512
c.401C>Gp.S134CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1460Vacca, ...
Pubmed: 11269512
c.401C>Gp.S134CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1631Bunyan, ...
c.401C>Gp.S134CMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1669Sarojini S. Budden, ...
Pubmed: 16182490
c.401C>Gp.S134CMissenseMBDRett syndrome - AtypicalMutation associated with diseaseF
1672Sarojini S. Budden, ...
Pubmed: 16182490
c.401C>Gp.S134CMissenseMBDNot Rett synd. - Unaffected family memberMutation associated with diseaseF
1673Sarojini S. Budden, ...
Pubmed: 16182490
c.401C>Gp.S134CMissenseMBDRett syndrome - Male variantMutation associated with diseaseM
1740Friez, ...
c.401C>Tp.S134FMissenseMBDNot knownUnknownF
1805Friez, ...
c.401C>Gp.S134CMissenseMBDNot knownMutation associated with diseaseF
2333Cardiff, ...
c.401C>Gp.S134CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2334Cardiff, ...
c.401C>Gp.S134CMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2577Zahorakova, ...
Pubmed: 17387578
c.401C>Gp.S134CmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2986Chae, ...
Pubmed: 15526954
c.401C>Tp.S134FmissenseMBDRett syndrome - classicalUnknownF
3079Giunti L, ...
Pubmed: 11738883
c.401C>Gp.S134CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3397Yamashita Y, ...
Pubmed: 11738864
c.401C>Gp.S134CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3538Li, ...
Pubmed: 17089071
c.401C>Gp.S134CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3624Fukuda, ...
Pubmed: 15737703
c.401C>Tp.S134FmissenseMBDRett syndrome - classicalUnknownF
3645Fukuda, ...
Pubmed: 15737703
c.401C>Gp.S134CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
4437Das, ...
c.401C>Gp.S134CmissenseMBDNot knownMutation associated with diseaseF
4737Hadzsiev, ...
Pubmed: 21160487
c.401C>Tp.S134FmissenseMBDRett syndrome - not certainUnknownF
4738Hadzsiev, ...
Pubmed: 21160487
c.401C>Gp.S134CmissenseMBDRett syndrome - not certainMutation associated with diseaseF
6596Directly submitted
c.401C>Gp.S134CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6595Directly submitted
c.401C>Gp.S134CmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6594Directly submitted
c.401C>Tp.S134FmissenseMBDRett syndrome - classicalUnknownF
1286Laccone, ...
Pubmed: 11241840
c.403A>Gp.K135EMissenseMBDRett syndrome - Not certainUnknownU
1287Laccone, ...
Pubmed: 11241840
c.403A>Gp.K135EMissenseMBDRett syndrome - Not certainUnknownU
2578Zahorakova, ...
Pubmed: 17387578
c.403A>Gp.K135EmissenseMBDRett syndrome - ClassicalUnknownF
2934Kammoun, ...
Pubmed: 15173251
c.403A>Gp.K135EmissenseMBDRett syndrome - classicalUnknownF
3112Philippe C, ...
Pubmed: 16473305
c.403A>Gp.K135EmissenseMBDRett syndrome - not certainUnknownF
3433Bienvenu T, ...
Pubmed: 12180070
c.403A>Gp.K135EmissenseMBDRett syndrome - not certainUnknownF
4096Milunsky, ...
Pubmed: 11960578
c.403A>Gp.K135EmissenseMBDRett syndrome - classicalUnknownF
6618Directly submitted
c.403A>Gp.K135EmissenseMBDRett syndrome - preserved speechUnknownF
4866Zvereff, ...
Pubmed: 22277191
c.409_1158delp.E137_L386delin-frame insertion or deletionMBD, inter-domain region, TRD, TRD-NLS, C-termRett syndrome - classicalMutation associated with diseaseF
1012Couvert, ...
Pubmed: 11309367
c.410A>Gp.E137GMissenseMBDNot Rett synd. - X-linked mental retardationMutation associated with diseaseM
1484Wan, ...
Pubmed: 10577905
c.411delGp.E137fsFrameshift insertion or deletionMBDRett syndrome - Not certainMutation associated with diseaseU
3170Philippe C, ...
Pubmed: 16473305
c.413T>Ap.L138XnonsenseMBDRett syndrome - not certainMutation associated with diseaseF
4394Khajuria, ...
c.413T>Cp.L138SmissenseMBDRett syndrome - classicalUnknownF
218Orrico, ...
Pubmed: 11007980
c.419C>Tp.A140VMissenseMBDNot Rett synd. - X-linked mental retardationUnknownF
219Orrico, ...
Pubmed: 11007980
c.419C>Tp.A140VMissenseMBDNot Rett synd. - X-linked mental retardationUnknownF
220Orrico, ...
Pubmed: 11007980
c.419C>Tp.A140VMissenseMBDNot Rett synd. - X-linked mental retardationUnknownM
221Orrico, ...
Pubmed: 11007980
c.419C>Tp.A140VMissenseMBDNot Rett synd. - X-linked mental retardationUnknownM
222Orrico, ...
Pubmed: 11007980
c.419C>Tp.A140VMissenseMBDNot Rett synd. - X-linked mental retardationUnknownM
223Orrico, ...
Pubmed: 11007980
c.419C>Tp.A140VMissenseMBDNot Rett synd. - X-linked mental retardationUnknownM
1014Couvert, ...
Pubmed: 11309367
c.419C>Tp.A140VMissenseMBDNot Rett synd. - X-linked mental retardationUnknownM
1015Couvert, ...
Pubmed: 11309367
c.419C>Tp.A140VMissenseMBDNot Rett synd. - X-linked mental retardationUnknownM
1265Klauck, ...
Pubmed: 11885030
c.419C>Tp.A140VMissenseMBDNot Rett synd. - Unaffected family memberUnknownF
1266Klauck, ...
Pubmed: 11885030
c.419C>Tp.A140VMissenseMBDNot Rett synd. - X-linked mental retardationUnknownM
1267Klauck, ...
Pubmed: 11885030
c.419C>Tp.A140VMissenseMBDNot Rett synd. - Unaffected family memberUnknownF
1268Klauck, ...
Pubmed: 11885030
c.419C>Tp.A140VMissenseMBDNot Rett synd. - X-linked mental retardation, manic-depressive illnessUnknownM
1269Klauck, ...
Pubmed: 11885030
c.419C>Tp.A140VMissenseMBDNot Rett synd. - X-linked mental retardation, manic-depressive illnessUnknownM
1270Klauck, ...
Pubmed: 11885030
c.419C>Tp.A140VMissenseMBDNot Rett synd. - X-linked mental retardationUnknownM
1271Klauck, ...
Pubmed: 11885030
c.419C>Tp.A140VMissenseMBDNot Rett synd. - Unaffected family memberUnknownF
1272Klauck, ...
Pubmed: 11885030
c.419C>Tp.A140VMissenseMBDNot Rett synd. - X-linked mental retardation, manic-depressive illnessUnknownM
1966Cohen, ...
Pubmed: 11772708
c.419C>Tp.A140VMissenseMBDNot Rett synd. - Developmental receptive language disorder, childhood-onset schizophreniaUnknownM
1967Cohen, ...
Pubmed: 11772708
c.419C>Tp.A140VMissenseMBDNot Rett synd. - Unaffected family memberUnknownF
5302Venkateswaran, ...
Pubmed: 24328834
c.419C>Tp.A140VmissenseMBDNot Rett synd. - late onset cognitive regression, parkinsonism, neuropsychiatric symptomsUnknownF
4093Parmeggiani, ...
Pubmed: 19189931
c.419C>Tp.A140VmissenseMBDNot Rett synd. - mental retardationUnknownF
4398Winnepenninckx, ...
Pubmed: 12325019
c.419C>Tp.A140VmissenseMBDNot Rett synd. - x-linked mental retardationUnknownM
4399Winnepenninckx, ...
Pubmed: 12325019
c.419C>Tp.A140VmissenseMBDNot Rett synd. - x-linked mental retardationUnknownM
4400Winnepenninckx, ...
Pubmed: 12325019
c.419C>Tp.A140VmissenseMBDNot Rett synd. - x-linked mental retardationUnknownM
4401Winnepenninckx, ...
Pubmed: 12325019
c.419C>Tp.A140VmissenseMBDNot Rett synd. - x-linked mental retardationUnknownM
4402Winnepenninckx, ...
Pubmed: 12325019
c.419C>Tp.A140VmissenseMBDNot Rett synd. - unaffected family memberUnknownF
4403Winnepenninckx, ...
Pubmed: 12325019
c.419C>Tp.A140VmissenseMBDNot Rett synd. - unaffected family memberUnknownF
4404Winnepenninckx, ...
Pubmed: 12325019
c.419C>Tp.A140VmissenseMBDNot Rett synd. - unaffected family memberUnknownF
4405Winnepenninckx, ...
Pubmed: 12325019
c.419C>Tp.A140VmissenseMBDNot Rett synd. - unaffected family memberUnknownF
6913Directly submitted
c.419C>Tp.Ala140ValmissenseMBDNot Rett synd. - x-linked mental retardationMutation associated with diseaseM
4362Monnerat, ...
Pubmed: 20031356
c.420delGp.Y141fsframeshift insertion or deletionMBDRett syndrome - ClassicalMutation associated with diseaseF
1561Carson, ...
c.422dupAp.Y141XFrameshift insertion or deletionMBDNot knownMutation associated with diseaseF
2519Tejada M-I, ...
Pubmed: 16879196
c.422A>Gp.Y141CMissenseMBDRett syndrome - AtypicalUnknownF
2956Kammoun, ...
Pubmed: 15173251
c.422A>Gp.Y141CmissenseMBDRett syndrome - atypicalUnknownF
3113Philippe C, ...
Pubmed: 16473305
c.422A>Gp.Y141CmissenseMBDRett syndrome - not certainUnknownF
3114Philippe C, ...
Pubmed: 16473305
c.422A>Gp.Y141CmissenseMBDRett syndrome - not certainUnknownF
3115Philippe C, ...
Pubmed: 16473305
c.422A>Gp.Y141CmissenseMBDRett syndrome - not certainUnknownF
330De Bona, ...
Pubmed: 10854091
c.423C>Gp.Y141XNonsenseMBDRett syndrome - ClassicalMutation associated with diseaseF
882Directly submitted
c.423C>Gp.Y141XNonsenseMBDRett syndrome - ClassicalMutation associated with diseaseU
883Directly submitted
c.423C>Gp.Y141XNonsenseMBDRett syndrome - ClassicalMutation associated with diseaseU
1063Buyse, ...
Pubmed: 11055898
c.423C>Gp.Y141XNonsenseMBDRett syndrome - Not certainMutation associated with diseaseF
1154Watson, ...
Pubmed: 11283202
c.423C>Gp.Y141XNonsenseMBDNot Rett synd. - Angelman syndromeMutation associated with diseaseF
1461Vacca, ...
Pubmed: 11269512
c.423C>Gp.Y141XNonsenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1521Yamada, ...
Pubmed: 11524741
c.423C>Gp.Y141XNonsenseMBDRett syndrome - classicalMutation associated with diseaseU
2416Directly submitted
c.423C>Gp.Y141XNonsenseMBDRett syndrome - Preserved speechMutation associated with diseaseF
2579Zahorakova, ...
Pubmed: 17387578
c.423C>Gp.Y141XnonsenseMBDRett syndrome - ClassicalMutation associated with diseaseF
3050Giunti L, ...
Pubmed: 11738883
c.423C>Gp.Y141XnonsenseMBDRett syndrome - not certainMutation associated with diseaseF
3377Nielsen JB, ...
Pubmed: 11313756
c.423C>Gp.Y141XnonsenseMBDRett syndrome - classicalMutation associated with diseaseF
3378Nielsen JB, ...
Pubmed: 11313756
c.423C>Gp.Y141XnonsenseMBDRett syndrome - classicalMutation associated with diseaseF
3539Li, ...
Pubmed: 17089071
c.423C>Gp.Y141XnonsenseMBDRett syndrome - not certainMutation associated with diseaseF
3687Fukuda, ...
Pubmed: 15737703
c.423C>Gp.Y141XnonsenseMBDRett syndrome - classicalMutation associated with diseaseF
6592Directly submitted
c.423C>Gp.Y141XnonsenseMBDRett syndrome - classicalMutation associated with diseaseF
6593Directly submitted
c.423C>Gp.Y141XnonsenseMBDRett syndrome - classicalMutation associated with diseaseF
45Hoffbuhr, ...
Pubmed: 11402105
c.426C>Tp.F142FSilentMBDRett syndrome - Not certainSilent polymorphismF
364Weaving, ...
Pubmed: 15492925
c.426C>Tp.F142FSilentMBDRett syndrome - AtypicalSilent polymorphismF
365Weaving, ...
Pubmed: 15492925
c.426C>Tp.F142FSilentMBDNot Rett synd. - Unaffected family memberSilent polymorphismF
1885Directly submitted
c.426C>Tp.F142FSilentMBDNot Rett synd. - Sporadic mental retardationSilent polymorphismM
2505Weaving, ...
Pubmed: 15492925
c.426C>Tp.F142FSilentMBDNot Rett synd. - Unaffected family memberSilent polymorphismF
2506Weaving, ...
Pubmed: 15492925
c.426C>Tp.F142FSilentMBDNot Rett synd. - Unaffected family memberSilent polymorphismF
4622Piton, ...
Pubmed: 20479760
c.426C>Tp.F142FsilentMBDNot Rett synd. - autism spectrum disorderSilent polymorphismU
6907Directly submitted
c.426C>Tp.Phe142PhemissenseMBDNot Rett synd. - not certainSilent polymorphismM
7032Tsutomu Shioda , ...
Pubmed: 29631775
c.427G>A missenseMBDRett syndrome - classicalMutation associated with diseaseF
1641Bunyan, ...
c.428_429insTp.E143fsFrameshift insertion or deletionMBDRett syndrome - Not certainMutation associated with diseaseF
1064Buyse, ...
Pubmed: 11055898
c.430A>Tp.K144XNonsenseMBDRett syndrome - Not certainMutation associated with diseaseF
2580Zahorakova, ...
Pubmed: 17387578
c.430A>Tp.K144XnonsenseMBDRett syndrome - ClassicalMutation associated with diseaseF
331De Bona, ...
Pubmed: 10854091
c.431delAp.K144fsFrameshift insertion or deletionMBDRett syndrome - ClassicalMutation associated with diseaseF
5185Maortua, ...
Pubmed: 23810759
c.431A>Gp.K144RmissenseMBDNot Rett synd. - normal controlPolymorphism not causing diseaseF
254Bourdon, ...
Pubmed: 11214906
c.439delGp.D147fsFrameshift insertion or deletionMBDRett syndrome - Not certainMutation associated with diseaseU
4044Schollen, ...
Pubmed: 12872251
c.439G>Ap.D147NmissenseMBDNot Rett synd. - unaffected family memberPolymorphism not causing diseaseF
7000Qingping Zhang, ...
Pubmed: 28394482
c.441C > G missenseMBDNot Rett synd. - x-linked mental retardationUnknownM
7001Qingping Zhang, ...
Pubmed: 28394482
c.441C > G missenseMBDNot Rett synd. - x-linked mental retardationUnknownM
1526Yamada, ...
Pubmed: 11524741
c.451delGp.D151fsFrameshift insertion or deletionMBDRett syndrome - atypicalMutation associated with diseaseU
2958Kammoun, ...
Pubmed: 15173251
c.452A>Gp.D151GmissenseMBDRett syndrome - atypicalUnknownF
3434Bienvenu T, ...
Pubmed: 12180070
c.452A>Gp.D151GmissenseMBDRett syndrome - not certainUnknownF
3856Adegbola, ...
Pubmed: 18989701
c.454C>Gp.P152AmissenseMBDNot Rett synd. - Pervasive developmental disorder-not otherwise specifiedMutation associated with diseaseF
3857Adegbola, ...
Pubmed: 18989701
c.454C>Gp.P152AmissenseMBDNot Rett synd. - Not specifiedMutation associated with diseaseM
5Bunyan, ...
c.455C>Gp.P152RMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
58Hoffbuhr, ...
Pubmed: 11402105
c.455C>Gp.P152RMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
59Hoffbuhr, ...
Pubmed: 11402105
c.455C>Gp.P152RMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
60Hoffbuhr, ...
Pubmed: 11402105
c.455C>Gp.P152RMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
107Huppke, ...
Pubmed: 10814718
c.455C>Gp.P152RMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
160Obata, ...
Pubmed: 10991688
c.455C>Gp.P152RMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
161Obata, ...
Pubmed: 10991688
c.455C>Gp.P152RMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
162Obata, ...
Pubmed: 10991688
c.455C>Gp.P152RMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
265Trappe, ...
Pubmed: 11309679
c.455C>Gp.P152RMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
362Directly submitted
c.455C>Gp.P152RMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
419Directly submitted
c.455C>Gp.P152RMissenseMBDRett syndrome - AtypicalMutation associated with diseaseF
426Directly submitted
c.455C>Gp.P152RMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1031Buyse, ...
Pubmed: 11055898
c.455C>Gp.P152RMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1225Erlandson, ...
Pubmed: 11469283
c.455C>Gp.P152RMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1288Laccone, ...
Pubmed: 11241840
c.455C>Gp.P152RMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
1289Laccone, ...
Pubmed: 11241840
c.455C>Gp.P152RMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
1290Laccone, ...
Pubmed: 11241840
c.455C>Gp.P152RMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
1291Laccone, ...
Pubmed: 11241840
c.455C>Gp.P152RMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
1396Nicolao, ...
Pubmed: 11462237
c.455C>Gp.P152RMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1462Vacca, ...
Pubmed: 11269512
c.455C>Gp.P152RMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1764Friez, ...
c.455C>Gp.P152RMissenseMBDNot knownMutation associated with diseaseF
1793Friez, ...
c.455C>Gp.P152RMissenseMBDNot knownMutation associated with diseaseF
2170Cardiff, ...
c.455C>Gp.P152RMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2171Cardiff, ...
c.455C>Gp.P152RMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2172Cardiff, ...
c.455C>Gp.P152RMissenseMBDRett syndrome - AtypicalMutation associated with diseaseF
2407Monros, ...
Pubmed: 11738885
c.455C>Gp.P152RMissenseMBDRett syndrome - Preserved speechMutation associated with diseaseF
2423Directly submitted
c.455C>Gp.P152RMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2461Directly submitted
c.455C>Gp.P152RMissenseMBDRett syndrome - Congenital onsetMutation associated with diseaseF
2468Directly submitted
c.455C>Gp.P152RMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2581Zahorakova, ...
Pubmed: 17387578
c.455C>Gp.P152RmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2871Smeets, ...
Pubmed: 12966523
c.455C>Gp.P152RmissenseMBDRett syndrome - classicalMutation associated with diseaseF
2872Smeets, ...
Pubmed: 12966523
c.455C>Gp.P152RmissenseMBDRett syndrome - classicalMutation associated with diseaseF
2957Kammoun, ...
Pubmed: 15173251
c.455C>Gp.P152RmissenseMBDRett syndrome - atypicalMutation associated with diseaseF
2987Chae, ...
Pubmed: 15526954
c.455C>Gp.P152RmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3078Giunti L, ...
Pubmed: 11738883
c.455C>Gp.P152RmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3116Philippe C, ...
Pubmed: 16473305
c.455C>Gp.P152RmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3399Yamashita Y, ...
Pubmed: 11738864
c.455C>Gp.P152RmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3435Bienvenu T, ...
Pubmed: 12180070
c.455C>Gp.P152RmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3436Bienvenu T, ...
Pubmed: 12180070
c.455C>Gp.P152RmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3437Bienvenu T, ...
Pubmed: 12180070
c.455C>Gp.P152RmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3438Bienvenu T, ...
Pubmed: 12180070
c.455C>Gp.P152RmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3439Bienvenu T, ...
Pubmed: 12180070
c.455C>Gp.P152RmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3540Li, ...
Pubmed: 17089071
c.455C>Gp.P152RmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3541Li, ...
Pubmed: 17089071
c.455C>Gp.P152RmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3646Fukuda, ...
Pubmed: 15737703
c.455C>Gp.P152RmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3647Fukuda, ...
Pubmed: 15737703
c.455C>Gp.P152RmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3648Fukuda, ...
Pubmed: 15737703
c.455C>Gp.P152RmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3649Fukuda, ...
Pubmed: 15737703
c.455C>Gp.P152RmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3650Fukuda, ...
Pubmed: 15737703
c.455C>Gp.P152RmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3651Fukuda, ...
Pubmed: 15737703
c.455C>Gp.P152RmissenseMBDRett syndrome - classicalMutation associated with diseaseF
4246de Lima, ...
Pubmed: 19722030
c.455C>Gp.P152RmissenseMBDRett syndrome - AtypicalMutation associated with diseaseF
4363Monnerat, ...
Pubmed: 20031356
c.455C>Gp.P152RmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
4438Das, ...
c.455C>G p.P152RmissenseMBDNot knownMutation associated with diseaseF
4439Das, ...
c.455C>G p.P152RmissenseMBDNot knownMutation associated with diseaseF
4440Das, ...
c.455C>G p.P152RmissenseMBDNot knownMutation associated with diseaseF
4441Das, ...
c.455C>G p.P152RmissenseMBDNot knownMutation associated with diseaseF
4739Hadzsiev, ...
Pubmed: 21160487
c.455C>Gp.P152RmissenseMBDRett syndrome - not certainMutation associated with diseaseF
4848Psoni, ...
Pubmed: 21982064
c.455C>Gp.P152RmissenseMBDRett syndrome - classicalMutation associated with diseaseF
4867Zvereff, ...
Pubmed: 22277191
c.455C>Gp.P152RmissenseMBDRett syndrome - atypicalMutation associated with diseaseF
5067Das, ...
Pubmed: 23262346
c.455C>Gp.P152RmissenseMBDRett syndrome - classicalMutation associated with diseaseF
5124Maortua, ...
Pubmed: 23810759
c.455C>Gp.P152RmissenseMBDNot Rett synd. - Rett-likeMutation associated with diseaseF
5234Sheen, ...
Pubmed: 23859859
c.455C>Gp.P152RmissenseMBDRett syndrome - preserved speechMutation associated with diseaseF
6731Daniela Zahorakova, ...
Pubmed: 26984561
c.455C>Gp.P152RmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6730Daniela Zahorakova, ...
Pubmed: 26984561
c.455C>Gp.P152RmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6537Directly submitted
c.455C>Gp.P152RmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6536Directly submitted
c.455C>Gp.P152RmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6535Directly submitted
c.455C>Gp.P152RmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6534Directly submitted
c.455C>Gp.P152RmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6533Directly submitted
c.455C>Gp.P152RmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6532Directly submitted
c.455C>Gp.P152RmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6531Directly submitted
c.455C>Gp.P152RmissenseMBDRett syndrome - classicalMutation associated with diseaseF
7002Zhu Wen, ...
Pubmed: 28785396
c.455C>T missenseMBDNot Rett synd. - autism onlyMutation associated with diseaseF
867Xiang, ...
Pubmed: 10745042
c.463T>Ap.F155IMissenseMBDRett syndrome - Not certainUnknownU
840Amir, ...
Pubmed: 10508514
c.464T>Cp.F155SMissenseMBDRett syndrome - ClassicalMutation associated with diseaseU
1032Buyse, ...
Pubmed: 11055898
c.464T>Cp.F155SMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
2069Cardiff, ...
c.464T>Gp.F155CMissenseMBDRett syndrome - AtypicalUnknownF
4442Das, ...
c.464T>Gp.F155CmissenseMBDNot knownUnknownF
266Trappe, ...
Pubmed: 11309679
c.467A>Gp.D156GMissenseMBDRett syndrome - Not certainUnknownF
1292Laccone, ...
Pubmed: 11241840
c.467A>Gp.D156GMissenseMBDRett syndrome - Not certainUnknownU
3625Fukuda, ...
Pubmed: 15737703
c.467A>Cp.D156AmissenseMBDRett syndrome - classicalUnknownF
1243Huppke, ...
Pubmed: 12075485
c.468C>Gp.D156EMissenseMBDRett syndrome - Not certainUnknownF
1244Huppke, ...
Pubmed: 12075485
c.468C>Gp.D156EMissenseMBDRett syndrome - Not certainUnknownF
1522Yamada, ...
Pubmed: 11524741
c.468C>Gp.D156EMissenseMBDRett syndrome - classicalUnknownU
1788Friez, ...
c.468C>Gp.D156EMissenseMBDNot knownUnknownF
3117Philippe C, ...
Pubmed: 16473305
c.468C>Gp.D156EmissenseMBDRett syndrome - not certainUnknownF
3440Bienvenu T, ...
Pubmed: 12180070
c.468C>Gp.D156EmissenseMBDRett syndrome - not certainUnknownF
3441Bienvenu T, ...
Pubmed: 12180070
c.468C>Gp.D156EmissenseMBDRett syndrome - not certainUnknownF
3652Fukuda, ...
Pubmed: 15737703
c.468C>Gp.D156EmissenseMBDRett syndrome - classicalUnknownF
3653Fukuda, ...
Pubmed: 15737703
c.468C>Gp.D156EmissenseMBDRett syndrome - classicalUnknownF
4245de Lima, ...
Pubmed: 19722030
c.468C>Gp.D156EmissenseMBDRett syndrome - ClassicalUnknownF
4319Raizis, ...
Pubmed: 19652677
c.468C>Gp.D156EmissenseMBDRett syndrome - not certainUnknownF
4443Das, ...
c.468C>Gp.D156EmissenseMBDNot knownUnknownF
4444Das, ...
c.468C>Gp.D156EmissenseMBDNot knownUnknownF
4849Psoni, ...
Pubmed: 21982064
c.468C>Gp.D156EmissenseMBDRett syndrome - classicalUnknownF
6732Daniela Zahorakova, ...
Pubmed: 26984561
c.468C>Gp.D156EmissenseMBDRett syndrome - classicalMutation associated with diseaseF
1622Bunyan, ...
c.469T>Ap.F157IMissenseMBDRett syndrome - Not certainUnknownF
2795Kankirawatana, ...
Pubmed: 16832102
c.469T>Ap.F157ImissenseMBDNot Rett synd. - progressive encephalopathy of neonatal onsetUnknownM
6342Directly submitted
c.469T>Ap.F157ImissenseMBDRett syndrome - classicalMutation associated with diseaseF
1839Bunyan, ...
c.470dupTp.T158fsFrameshift insertion or deletionMBDRett syndrome - Not certainMutation associated with diseaseF
3412Yamashita Y, ...
Pubmed: 11738864
c.470_471delTCp.F157fsframeshift insertion or deletionMBDRett syndrome - preserved speechMutation associated with diseaseF
3913Khajuria, ...
c.471C>Gp.F157LmissenseMBDRett syndrome - classicalUnknownF
1463Vacca, ...
Pubmed: 11269512
c.472A>Gp.T158AMissenseMBDRett syndrome - Preserved speechUnknownF
1939Schanen, ...
Pubmed: 15057977
c.472A>Gp.T158AMissenseMBDRett syndrome - classicalUnknownF
61Hoffbuhr, ...
Pubmed: 11402105
c.473C>Tp.T158MMissenseMBDRett syndrome - Male variantMutation associated with diseaseM
62Hoffbuhr, ...
Pubmed: 11402105
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
63Hoffbuhr, ...
Pubmed: 11402105
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
64Hoffbuhr, ...
Pubmed: 11402105
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
65Hoffbuhr, ...
Pubmed: 11402105
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
66Hoffbuhr, ...
Pubmed: 11402105
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
67Hoffbuhr, ...
Pubmed: 11402105
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
68Hoffbuhr, ...
Pubmed: 11402105
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
69Hoffbuhr, ...
Pubmed: 11402105
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
70Hoffbuhr, ...
Pubmed: 11402105
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
71Hoffbuhr, ...
Pubmed: 11402105
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
72Hoffbuhr, ...
Pubmed: 11402105
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
108Huppke, ...
Pubmed: 10814718
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
109Huppke, ...
Pubmed: 10814718
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
139Amano, ...
Pubmed: 10944854
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
145Amano, ...
Pubmed: 10944854
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
146Amano, ...
Pubmed: 10944854
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
163Obata, ...
Pubmed: 10991688
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
164Obata, ...
Pubmed: 10991688
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
165Obata, ...
Pubmed: 10991688
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
166Obata, ...
Pubmed: 10991688
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
167Obata, ...
Pubmed: 10991688
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
192Hampson, ...
Pubmed: 10991689
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
193Hampson, ...
Pubmed: 10991689
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
228Bourdon, ...
Pubmed: 11214906
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
229Bourdon, ...
Pubmed: 11214906
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
230Bourdon, ...
Pubmed: 11214906
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
267Trappe, ...
Pubmed: 11309679
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
268Trappe, ...
Pubmed: 11309679
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
295Auranen, ...
Pubmed: 11245712
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
296Auranen, ...
Pubmed: 11245712
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
297Auranen, ...
Pubmed: 11245712
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
298Auranen, ...
Pubmed: 11245712
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
299Auranen, ...
Pubmed: 11245712
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
354Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
359Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
363Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
379Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
402Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
404Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
405Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
422Directly submitted
c.473C>Tp.T158MMissenseMBDNot knownMutation associated with diseaseF
434Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
439Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - AtypicalMutation associated with diseaseF
447Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - AtypicalMutation associated with diseaseF
453Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
461Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
463Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
465Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
953Bienvenu, ...
Pubmed: 10814719
c.473C>Tp.T158MMissenseMBDNot Rett synd. - Unaffected family memberMutation associated with diseaseF
934Bienvenu, ...
Pubmed: 10814719
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
928Bienvenu, ...
Pubmed: 10814719
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
924Bienvenu, ...
Pubmed: 10814719
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
890Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - Forme frusteMutation associated with diseaseU
888Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseU
889Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - Forme frusteMutation associated with diseaseU
886Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseU
887Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseU
884Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseU
885Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseU
868Xiang, ...
Pubmed: 10745042
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
841Amir, ...
Pubmed: 10508514
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseU
1033Buyse, ...
Pubmed: 11055898
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1034Buyse, ...
Pubmed: 11055898
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1035Buyse, ...
Pubmed: 11055898
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1036Buyse, ...
Pubmed: 11055898
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1037Buyse, ...
Pubmed: 11055898
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1038Buyse, ...
Pubmed: 11055898
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1039Buyse, ...
Pubmed: 11055898
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1040Buyse, ...
Pubmed: 11055898
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1041Buyse, ...
Pubmed: 11055898
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1042Buyse, ...
Pubmed: 11055898
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1043Buyse, ...
Pubmed: 11055898
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1044Buyse, ...
Pubmed: 11055898
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1045Buyse, ...
Pubmed: 11055898
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1046Buyse, ...
Pubmed: 11055898
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1047Buyse, ...
Pubmed: 11055898
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1048Buyse, ...
Pubmed: 11055898
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1049Buyse, ...
Pubmed: 11055898
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1050Buyse, ...
Pubmed: 11055898
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1051Buyse, ...
Pubmed: 11055898
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1052Buyse, ...
Pubmed: 11055898
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1053Buyse, ...
Pubmed: 11055898
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1163Girard, ...
Pubmed: 11313764
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1164Girard, ...
Pubmed: 11313764
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1165Girard, ...
Pubmed: 11313764
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1177Zappella, ...
Pubmed: 11746022
c.473C>Tp.T158MMissenseMBDRett syndrome - Preserved speechMutation associated with diseaseF
1197Armstrong, ...
Pubmed: 12065946
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1212Chae, ...
Pubmed: 11913567
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1214Chae, ...
Pubmed: 11913567
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1217Chae, ...
Pubmed: 11913567
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1226Erlandson, ...
Pubmed: 11469283
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1245Huppke, ...
Pubmed: 12075485
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1246Huppke, ...
Pubmed: 12075485
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1293Laccone, ...
Pubmed: 11241840
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
1294Laccone, ...
Pubmed: 11241840
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
1295Laccone, ...
Pubmed: 11241840
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
1296Laccone, ...
Pubmed: 11241840
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
1297Laccone, ...
Pubmed: 11241840
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
1298Laccone, ...
Pubmed: 11241840
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
1299Laccone, ...
Pubmed: 11241840
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
1300Laccone, ...
Pubmed: 11241840
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseU
1387Leonard, ...
Pubmed: 11392517
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseM
1397Nicolao, ...
Pubmed: 11462237
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1398Nicolao, ...
Pubmed: 11462237
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1399Nicolao, ...
Pubmed: 11462237
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1442Vacca, ...
Pubmed: 11269512
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1443Vacca, ...
Pubmed: 11269512
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1444Vacca, ...
Pubmed: 11269512
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1464Vacca, ...
Pubmed: 11269512
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1465Vacca, ...
Pubmed: 11269512
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1466Vacca, ...
Pubmed: 11269512
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1479Villard, ...
Pubmed: 11071498
c.473C>Tp.T158MMissenseMBDNot Rett synd. - Unaffected family memberMutation associated with diseaseF
1480Villard, ...
Pubmed: 11071498
c.473C>Tp.T158MMissenseMBDNot Rett synd. - Progressive encephalopathy of neonatal onsetMutation associated with diseaseM
1481Villard, ...
Pubmed: 11071498
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
1506Yamada, ...
Pubmed: 11524741
c.473C>Tp.T158MMissenseMBDRett syndrome - classicalMutation associated with diseaseU
1507Yamada, ...
Pubmed: 11524741
c.473C>Tp.T158MMissenseMBDRett syndrome - classicalMutation associated with diseaseU
1508Yamada, ...
Pubmed: 11524741
c.473C>Tp.T158MMissenseMBDRett syndrome - atypicalMutation associated with diseaseU
1509Yamada, ...
Pubmed: 11524741
c.473C>Tp.T158MMissenseMBDRett syndrome - atypicalMutation associated with diseaseU
1556Fridman C, ...
c.473C>Tp.T158MMissenseMBDNot Rett synd. - angelman syndromeMutation associated with diseaseF
1559Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - atypicalMutation associated with diseaseF
1621Bunyan, ...
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1645Bunyan, ...
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1661Friez, ...
c.473C>Tp.T158MMissenseMBDNot knownMutation associated with diseaseF
1663Friez, ...
c.473C>Tp.T158MMissenseMBDNot knownMutation associated with diseaseF
1665Friez, ...
c.473C>Tp.T158MMissenseMBDNot knownMutation associated with diseaseF
1666Friez, ...
c.473C>Tp.T158MMissenseMBDNot knownMutation associated with diseaseF
1685Friez, ...
c.473C>Tp.T158MMissenseMBDNot knownMutation associated with diseaseF
1715Friez, ...
c.473C>Tp.T158MMissenseMBDNot knownMutation associated with diseaseF
1723Friez, ...
c.473C>Tp.T158MMissenseMBDNot knownMutation associated with diseaseF
1746Friez, ...
c.473C>Tp.T158MMissenseMBDNot knownMutation associated with diseaseF
1749Friez, ...
c.473C>Tp.T158MMissenseMBDNot knownMutation associated with diseaseF
1779Friez, ...
c.473C>Tp.T158MMissenseMBDNot knownMutation associated with diseaseF
1802Friez, ...
c.473C>Tp.T158MMissenseMBDNot knownMutation associated with diseaseF
1836Bunyan, ...
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1847Bunyan, ...
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1855Bunyan, ...
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1874Bunyan, ...
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1886Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1887Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
1927Schanen, ...
Pubmed: 15057977
c.473C>Tp.T158MMissenseMBDRett syndrome - classicalMutation associated with diseaseF
1931Schanen, ...
Pubmed: 15057977
c.473C>Tp.T158MMissenseMBDRett syndrome - classicalMutation associated with diseaseF
1933Schanen, ...
Pubmed: 15057977
c.473C>Tp.T158MMissenseMBDRett syndrome - classicalMutation associated with diseaseF
1935Schanen, ...
Pubmed: 15057977
c.473C>Tp.T158MMissenseMBDRett syndrome - classicalMutation associated with diseaseF
1941Schanen, ...
Pubmed: 15057977
c.473C>Tp.T158MMissenseMBDRett syndrome - classicalMutation associated with diseaseF
1947Schanen, ...
Pubmed: 15057977
c.473C>Tp.T158MMissenseMBDRett syndrome - classicalMutation associated with diseaseF
1948Schanen, ...
Pubmed: 15057977
c.473C>Tp.T158MMissenseMBDRett syndrome - classicalMutation associated with diseaseF
1950Schanen, ...
Pubmed: 15057977
c.473C>Tp.T158MMissenseMBDRett syndrome - classicalMutation associated with diseaseF
2001Donatella Milani, ...
Pubmed: 15866439
c.473C>Tp.T158MMissenseMBDNot knownMutation associated with diseaseF
2019Directly submitted
c.473C>Tp.T158MMissenseMBDNot knownMutation associated with diseaseF
2046Directly submitted
c.473C>Tp.T158MMissenseMBDNot knownMutation associated with diseaseF
2066Directly submitted
c.473C>Tp.T158MMissenseMBDNot knownMutation associated with diseaseF
2339Cardiff, ...
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2340Cardiff, ...
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2341Cardiff, ...
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2342Cardiff, ...
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
2343Cardiff, ...
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
2344Cardiff, ...
c.473C>Tp.T158MMissenseMBDNot Rett synd. - Progressive encephalopathy of neonatal onsetMutation associated with diseaseM
2345Cardiff, ...
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2346Cardiff, ...
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
2347Cardiff, ...
c.473C>Tp.T158MMissenseMBDRett syndrome - AtypicalMutation associated with diseaseF
2348Cardiff, ...
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2349Cardiff, ...
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2350Cardiff, ...
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2351Cardiff, ...
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
2352Cardiff, ...
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2353Cardiff, ...
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2354Cardiff, ...
c.473C>Tp.T158MMissenseMBDRett syndrome - Not certainMutation associated with diseaseF
2355Cardiff, ...
c.473C>Tp.T158MMissenseMBDRett syndrome - AtypicalMutation associated with diseaseF
2356Cardiff, ...
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2357Cardiff, ...
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2358Cardiff, ...
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2359Cardiff, ...
c.473C>Tp.T158MMissenseMBDRett syndrome - AtypicalMutation associated with diseaseF
2360Cardiff, ...
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2361Cardiff, ...
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2362Cardiff, ...
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2363Cardiff, ...
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2364Cardiff, ...
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2405Monros, ...
Pubmed: 11738885
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2415Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - Forme frusteMutation associated with diseaseF
2425Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2428Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2440Monros, ...
Pubmed: 11738885
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2442Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2444Monros, ...
Pubmed: 11738885
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2448Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2464Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2472Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2478Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - Congenital onsetMutation associated with diseaseF
2480Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2483Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2486Directly submitted
c.473C>Tp.T158MMissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2492Tjitske Kleefstra, ...
Pubmed: 14560307
c.473C>Tp.T158MMissenseMBDNot Rett synd. - Angelman syndromeMutation associated with diseaseM
2540Matijevic, ...
Pubmed: 17341617
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
2548Lundvall, ...
Pubmed: 17236109
c.473C>Tp.T158MmissenseMBDRett syndrome - male variantMutation associated with diseaseM
2549Lundvall, ...
Pubmed: 17236109
c.473C>Tp.T158MmissenseMBDRett syndrome - male variantMutation associated with diseaseM
2582Zahorakova, ...
Pubmed: 17387578
c.473C>Tp.T158MmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2583Zahorakova, ...
Pubmed: 17387578
c.473C>Tp.T158MmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2584Zahorakova, ...
Pubmed: 17387578
c.473C>Tp.T158MmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2585Zahorakova, ...
Pubmed: 17387578
c.473C>Tp.T158MmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2586Zahorakova, ...
Pubmed: 17387578
c.473C>Tp.T158MmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2587Zahorakova, ...
Pubmed: 17387578
c.473C>Tp.T158MmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2588Zahorakova, ...
Pubmed: 17387578
c.473C>Tp.T158MmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2589Zahorakova, ...
Pubmed: 17387578
c.473C>Tp.T158MmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2590Zahorakova, ...
Pubmed: 17387578
c.473C>Tp.T158MmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2591Zahorakova, ...
Pubmed: 17387578
c.473C>Tp.T158MmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2592Zahorakova, ...
Pubmed: 17387578
c.473C>Tp.T158MmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
2807Kim, ...
Pubmed: 16672765
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
2808Kim, ...
Pubmed: 16672765
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
2809Kim, ...
Pubmed: 16672765
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
2810Kim, ...
Pubmed: 16672765
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
2854Conforti, ...
Pubmed: 12567420
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
2855Conforti, ...
Pubmed: 12567420
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
2873Smeets, ...
Pubmed: 12966523
c.473C>Tp.T158MmissenseMBDRett syndrome - forme frusteMutation associated with diseaseF
2874Smeets, ...
Pubmed: 12966523
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
2893Djarmati, ...
Pubmed: 17986102
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
2894Djarmati, ...
Pubmed: 17986102
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
2935Kammoun, ...
Pubmed: 15173251
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
2936Kammoun, ...
Pubmed: 15173251
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
2937Kammoun, ...
Pubmed: 15173251
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
2959Kammoun, ...
Pubmed: 15173251
c.473C>Tp.T158MmissenseMBDRett syndrome - atypicalMutation associated with diseaseF
2960Kammoun, ...
Pubmed: 15173251
c.473C>Tp.T158MmissenseMBDRett syndrome - atypicalMutation associated with diseaseF
2961Kammoun, ...
Pubmed: 15173251
c.473C>Tp.T158MmissenseMBDRett syndrome - atypicalMutation associated with diseaseF
2962Kammoun, ...
Pubmed: 15173251
c.473C>Tp.T158MmissenseMBDRett syndrome - atypicalMutation associated with diseaseF
2963Kammoun, ...
Pubmed: 15173251
c.473C>Tp.T158MmissenseMBDRett syndrome - atypicalMutation associated with diseaseF
2988Chae, ...
Pubmed: 15526954
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
2989Chae, ...
Pubmed: 15526954
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
2996Pan, ...
Pubmed: 12111643
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
2997Pan, ...
Pubmed: 12111643
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
2998Pan, ...
Pubmed: 12111643
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
2999Pan, ...
Pubmed: 12111643
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3038Yaron Y, ...
Pubmed: 12325033
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3039Yaron Y, ...
Pubmed: 12325033
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3068Giunti L, ...
Pubmed: 11738883
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3069Giunti L, ...
Pubmed: 11738883
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3070Giunti L, ...
Pubmed: 11738883
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3071Giunti L, ...
Pubmed: 11738883
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3072Giunti L, ...
Pubmed: 11738883
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3073Giunti L, ...
Pubmed: 11738883
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3074Giunti L, ...
Pubmed: 11738883
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3075Giunti L, ...
Pubmed: 11738883
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3076Giunti L, ...
Pubmed: 11738883
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3118Philippe C, ...
Pubmed: 16473305
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3119Philippe C, ...
Pubmed: 16473305
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3120Philippe C, ...
Pubmed: 16473305
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3121Philippe C, ...
Pubmed: 16473305
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3122Philippe C, ...
Pubmed: 16473305
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3123Philippe C, ...
Pubmed: 16473305
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3124Philippe C, ...
Pubmed: 16473305
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3125Philippe C, ...
Pubmed: 16473305
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3126Philippe C, ...
Pubmed: 16473305
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3127Philippe C, ...
Pubmed: 16473305
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3128Philippe C, ...
Pubmed: 16473305
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3129Philippe C, ...
Pubmed: 16473305
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3130Philippe C, ...
Pubmed: 16473305
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3131Philippe C, ...
Pubmed: 16473305
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3132Philippe C, ...
Pubmed: 16473305
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3133Philippe C, ...
Pubmed: 16473305
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3134Philippe C, ...
Pubmed: 16473305
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3135Philippe C, ...
Pubmed: 16473305
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3136Philippe C, ...
Pubmed: 16473305
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3137Philippe C, ...
Pubmed: 16473305
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3374Nielsen JB, ...
Pubmed: 11313756
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3375Nielsen JB, ...
Pubmed: 11313756
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3376Nielsen JB, ...
Pubmed: 11313756
c.473C>Tp.T158MmissenseMBDRett syndrome - forme frusteMutation associated with diseaseF
3384Nielsen JB, ...
Pubmed: 11738879
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3390Yamashita Y, ...
Pubmed: 11738864
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3391Yamashita Y, ...
Pubmed: 11738864
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3392Yamashita Y, ...
Pubmed: 11738864
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3442Bienvenu T, ...
Pubmed: 12180070
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3443Bienvenu T, ...
Pubmed: 12180070
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3444Bienvenu T, ...
Pubmed: 12180070
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3445Bienvenu T, ...
Pubmed: 12180070
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3446Bienvenu T, ...
Pubmed: 12180070
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3447Bienvenu T, ...
Pubmed: 12180070
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3448Bienvenu T, ...
Pubmed: 12180070
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3449Bienvenu T, ...
Pubmed: 12180070
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3450Bienvenu T, ...
Pubmed: 12180070
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3543Li, ...
Pubmed: 17089071
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3544Li, ...
Pubmed: 17089071
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3545Li, ...
Pubmed: 17089071
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3546Li, ...
Pubmed: 17089071
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3547Li, ...
Pubmed: 17089071
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3548Li, ...
Pubmed: 17089071
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3549Li, ...
Pubmed: 17089071
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3550Li, ...
Pubmed: 17089071
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3551Li, ...
Pubmed: 17089071
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3552Li, ...
Pubmed: 17089071
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3553Li, ...
Pubmed: 17089071
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3554Li, ...
Pubmed: 17089071
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3555Li, ...
Pubmed: 17089071
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3556Li, ...
Pubmed: 17089071
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3557Li, ...
Pubmed: 17089071
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3654Fukuda, ...
Pubmed: 15737703
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3655Fukuda, ...
Pubmed: 15737703
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3656Fukuda, ...
Pubmed: 15737703
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3657Fukuda, ...
Pubmed: 15737703
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3658Fukuda, ...
Pubmed: 15737703
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3659Fukuda, ...
Pubmed: 15737703
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3660Fukuda, ...
Pubmed: 15737703
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3661Fukuda, ...
Pubmed: 15737703
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3662Fukuda, ...
Pubmed: 15737703
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3663Fukuda, ...
Pubmed: 15737703
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3664Fukuda, ...
Pubmed: 15737703
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3665Fukuda, ...
Pubmed: 15737703
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3666Fukuda, ...
Pubmed: 15737703
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3667Fukuda, ...
Pubmed: 15737703
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3668Fukuda, ...
Pubmed: 15737703
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3669Fukuda, ...
Pubmed: 15737703
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3670Fukuda, ...
Pubmed: 15737703
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3671Fukuda, ...
Pubmed: 15737703
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3672Fukuda, ...
Pubmed: 15737703
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3673Fukuda, ...
Pubmed: 15737703
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3674Fukuda, ...
Pubmed: 15737703
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3675Fukuda, ...
Pubmed: 15737703
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
3788Inui, ...
Pubmed: 11376998
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3789Inui, ...
Pubmed: 11376998
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3792Inui, ...
Pubmed: 11376998
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
3980Lundvall, ...
Pubmed: 17236109
c.473C>Tp.T158MmissenseMBDNot Rett synd. - unaffected family memberMutation associated with diseaseF
4063Lee SSJ, ...
Pubmed: 11738860
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
4064Lee SSJ, ...
Pubmed: 11738860
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
4065Lee SSJ, ...
Pubmed: 11738860
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
4109Milunsky, ...
Pubmed: 11960578
c.473C>Tp.T158MmissenseMBDNot knownMutation associated with diseaseF
4110Milunsky, ...
Pubmed: 11960578
c.473C>Tp.T158MmissenseMBDNot knownMutation associated with diseaseF
4111Milunsky, ...
Pubmed: 11960578
c.473C>Tp.T158MmissenseMBDNot knownMutation associated with diseaseF
4112Milunsky, ...
Pubmed: 11960578
c.473C>Tp.T158MmissenseMBDNot knownMutation associated with diseaseF
4113Milunsky, ...
Pubmed: 11960578
c.473C>Tp.T158MmissenseMBDNot knownMutation associated with diseaseF
4114Milunsky, ...
Pubmed: 11960578
c.473C>Tp.T158MmissenseMBDNot knownMutation associated with diseaseF
4115Milunsky, ...
Pubmed: 11960578
c.473C>Tp.T158MmissenseMBDNot knownMutation associated with diseaseF
4116Milunsky, ...
Pubmed: 11960578
c.473C>Tp.T158MmissenseMBDNot knownMutation associated with diseaseF
5298Suter, ...
Pubmed: 23921973
c.473C>Tp.T158MmissenseMBDNot Rett synd. - autism - pervasive developmental disorderMutation associated with diseaseF
4231de Lima, ...
Pubmed: 19722030
c.473C>Tp.T158MmissenseMBDRett syndrome - AtypicalMutation associated with diseaseF
4232de Lima, ...
Pubmed: 19722030
c.473C>Tp.T158MmissenseMBDRett syndrome - AtypicalMutation associated with diseaseF
4233de Lima, ...
Pubmed: 19722030
c.473C>Tp.T158MmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
4234de Lima, ...
Pubmed: 19722030
c.473C>Tp.T158MmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
4235de Lima, ...
Pubmed: 19722030
c.473C>Tp.T158MmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
4236de Lima, ...
Pubmed: 19722030
c.473C>Tp.T158MmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
4237de Lima, ...
Pubmed: 19722030
c.473C>Tp.T158MmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
4238de Lima, ...
Pubmed: 19722030
c.473C>Tp.T158MmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
4239de Lima, ...
Pubmed: 19722030
c.473C>Tp.T158MmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
4240de Lima, ...
Pubmed: 19722030
c.473C>Tp.T158MmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
4301Fendri-Kriaa, ...
Pubmed: 20631224
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
4302Fendri-Kriaa, ...
Pubmed: 20631224
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
4303Fendri-Kriaa, ...
Pubmed: 20631224
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
4304Fendri-Kriaa, ...
Pubmed: 20631224
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
4312Raizis, ...
Pubmed: 19652677
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
4364Monnerat, ...
Pubmed: 20031356
c.473C>Tp.T158MmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
4365Monnerat, ...
Pubmed: 20031356
c.473C>Tp.T158MmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
4366Monnerat, ...
Pubmed: 20031356
c.473C>Tp.T158MmissenseMBDRett syndrome - AtypicalMutation associated with diseaseF
4367Monnerat, ...
Pubmed: 20031356
c.473C>Tp.T158MmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
4368Monnerat, ...
Pubmed: 20031356
c.473C>Tp.T158MmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
4369Monnerat, ...
Pubmed: 20031356
c.473C>Tp.T158MmissenseMBDRett syndrome - AtypicalMutation associated with diseaseF
4370Monnerat, ...
Pubmed: 20031356
c.473C>Tp.T158MmissenseMBDRett syndrome - ClassicalMutation associated with diseaseF
4447Das, ...
c.473C>Tp.T158MmissenseMBDNot knownMutation associated with diseaseF
4448Das, ...
c.473C>Tp.T158MmissenseMBDNot knownMutation associated with diseaseF
4449Das, ...
c.473C>Tp.T158MmissenseMBDNot knownMutation associated with diseaseF
4450Das, ...
c.473C>Tp.T158MmissenseMBDNot knownMutation associated with diseaseF
4451Das, ...
c.473C>Tp.T158MmissenseMBDNot knownMutation associated with diseaseF
4452Das, ...
c.473C>Tp.T158MmissenseMBDNot knownMutation associated with diseaseF
4453Das, ...
c.473C>Tp.T158MmissenseMBDNot knownMutation associated with disease 
4454Das, ...
c.473C>Tp.T158MmissenseMBDNot knownMutation associated with diseaseF
4455Das, ...
c.473C>Tp.T158MmissenseMBDNot knownMutation associated with diseaseF
4456Das, ...
c.473C>Tp.T158MmissenseMBDNot knownMutation associated with diseaseF
4457Das, ...
c.473C>Tp.T158MmissenseMBDNot knownMutation associated with diseaseF
4740Hadzsiev, ...
Pubmed: 21160487
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
4741Hadzsiev, ...
Pubmed: 21160487
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
4742Hadzsiev, ...
Pubmed: 21160487
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
4743Hadzsiev, ...
Pubmed: 21160487
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
4744Hadzsiev, ...
Pubmed: 21160487
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
4745Hadzsiev, ...
Pubmed: 21160487
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
4810Corbani, ...
Pubmed: 21954873
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
4836Psoni, ...
Pubmed: 21982064
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
4837Psoni, ...
Pubmed: 21982064
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
4838Psoni, ...
Pubmed: 21982064
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
4839Psoni, ...
Pubmed: 21982064
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
4868Zvereff, ...
Pubmed: 22277191
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
4869Zvereff, ...
Pubmed: 22277191
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
4906Kim, ...
Pubmed: 22476991
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
4907Kim, ...
Pubmed: 22476991
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
4918Kim, ...
Pubmed: 22476991
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
4919Kim, ...
Pubmed: 22476991
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
4923Todorov, ...
Pubmed: 22525432
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
5051Das, ...
Pubmed: 23262346
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
5052Das, ...
Pubmed: 23262346
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
5053Das, ...
Pubmed: 23262346
c.473C>Tp.T158MmissenseMBDRett syndrome - not certainMutation associated with diseaseF
5125Maortua, ...
Pubmed: 23810759
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6736Daniela Zahorakova, ...
Pubmed: 26984561
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6735Daniela Zahorakova, ...
Pubmed: 26984561
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6733Daniela Zahorakova, ...
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6734Daniela Zahorakova, ...
Pubmed: 26984561
c.473C>Tp.T158MmissenseMBDRett syndrome - congenital onsetMutation associated with diseaseF
6530Directly submitted
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6529Directly submitted
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6528Directly submitted
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6527Directly submitted
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6526Directly submitted
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6525Directly submitted
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6524Directly submitted
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6523Directly submitted
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6522Directly submitted
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6521Directly submitted
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6520Directly submitted
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6519Directly submitted
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6518Directly submitted
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6517Directly submitted
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6516Directly submitted
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6515Directly submitted
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6514Directly submitted
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6513Directly submitted
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6512Directly submitted
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6511Directly submitted
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6510Directly submitted
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6509Directly submitted
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6508Directly submitted
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6507Directly submitted
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6506Directly submitted
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6505Directly submitted
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6504Directly submitted
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6503Directly submitted
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
6502Directly submitted
c.473C>Tp.T158MmissenseMBDRett syndrome - classicalMutation associated with diseaseF
7010Huong Le Thi Thanh , ...
Pubmed: 30081849
c.473C > T missenseMBDRett syndrome - classicalMutation associated with diseaseF
7011Huong Le Thi Thanh , ...
Pubmed: 30081849
c.473C > T missenseMBDRett syndrome - classicalMutation associated with diseaseF
7012Huong Le Thi Thanh , ...
Pubmed: 30081849
c.473C > T missenseMBDRett syndrome - classicalMutation associated with diseaseF
7013Huong Le Thi Thanh , ...
Pubmed: 30081849
c.473C > T missenseMBDRett syndrome - classicalMutation associated with diseaseF
7034Tsutomu Shioda , ...
Pubmed: 29631775
c.473C>T  missenseMBDRett syndrome - classicalMutation associated with diseaseF
15Bunyan, ...
c.474G>Ap.T158TSilentMBDRett syndrome - Not certainSilent polymorphismF
2160Cardiff, ...
c.474G>Ap.T158TSilentMBDNot knownSilent polymorphismF
2161Cardiff, ...
c.474G>Ap.T158TSilentMBDNot Rett synd. - Unaffected family memberSilent polymorphismM
3259Philippe C, ...
Pubmed: 16473305
c.475delGp.V159Xframeshift insertion or deletionMBDRett syndrome - not certainMutation associated with diseaseF
6637Directly submitted
c.478dupAp.T160fsframeshift insertion or deletionMBDRett syndrome - classicalMutation associated with diseaseF
2058Directly submitted
c.479C>Gp.T160SMissenseMBDNot knownUnknownF
4796Campos, ...
Pubmed: 21600714
c.479C>Gp.T160SmissenseMBDNot Rett synd. - autismUnknownM
443Directly submitted
c.480_481delTGp.G161fsFrameshift insertion or deletionMBDRett syndrome - AtypicalMutation associated with diseaseF
3260Philippe C, ...
Pubmed: 16473305
c.480delTp.R162fsframeshift insertion or deletionMBDRett syndrome - not certainMutation associated with diseaseF
231Bourdon, ...
Pubmed: 11214906
c.481G>Tp.G161WMissenseMBDRett syndrome - Not certainUnknownU
2090Cardiff, ...
c.481_987del507ins8p.G161fsframeshift combined insertion and deletionMBDRett syndrome - ClassicalMutation associated with diseaseF
1942Schanen, ...
Pubmed: 15057977
c.482G>Tp.G161VMissenseMBDRett syndrome - atypicalUnknownF
2812Kim, ...
Pubmed: 16672765
c.482G>Ap.G161EmissenseMBDRett syndrome - classicalUnknownF
4097Milunsky, ...
Pubmed: 11960578
c.482G>Tp.G161VmissenseMBDRett syndrome - classicalUnknownF
1888Directly submitted
c.483delGp.R162fsFrameshift insertion or deletionMBDRett syndrome - Not certainMutation associated with diseaseF
4084Khajuria, ...
c.484dupAp.R162fsframeshift insertion or deletioninter-domain regionRett syndrome - classicalMutation associated with diseaseF
1239Geerdink, ...
Pubmed: 11930274
c.488_489delGGp.G163fsFrameshift insertion or deletionInter-domain regionNot Rett synd. - Progressive encephalopathy of neonatal onsetMutation associated with diseaseM
1240Geerdink, ...
Pubmed: 11930274
c.488_489delGGp.G163fsFrameshift insertion or deletionInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
3261Philippe C, ...
Pubmed: 16473305
c.488_1189del702p.G163_S396delin-frame insertion or deletioninter-domain regionRett syndrome - not certainMutation associated with diseaseF
4102Milunsky, ...
Pubmed: 11960578
c.495delCp.S166fsframeshift insertion or deletioninter-domain regionNot knownMutation associated with diseaseF
1013Couvert, ...
Pubmed: 11309367
c.499C>Tp.R167WMissenseInter-domain regionNot Rett synd. - X-linked mental retardationMutation associated with diseaseM
4458Das, ...
c.499C>T p.R167Wmissenseinter-domain regionNot knownMutation associated with diseaseF
4459Das, ...
c.499C>T p.R167Wmissenseinter-domain regionNot Rett synd. - unaffected family memberMutation associated with diseaseF
4460Das, ...
c.499C>T p.R167Wmissenseinter-domain regionNot knownMutation associated with diseaseF
6591Directly submitted
c.499C>Tp.R167WmissenseInter-domainNot Rett synd. - x-linked mental retardationMutation associated with diseaseM
80Hoffbuhr, ...
Pubmed: 11402105
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
81Hoffbuhr, ...
Pubmed: 11402105
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
82Hoffbuhr, ...
Pubmed: 11402105
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
83Hoffbuhr, ...
Pubmed: 11402105
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
84Hoffbuhr, ...
Pubmed: 11402105
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
85Hoffbuhr, ...
Pubmed: 11402105
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
110Huppke, ...
Pubmed: 10814718
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Preserved speechMutation associated with diseaseF
111Huppke, ...
Pubmed: 10814718
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
112Huppke, ...
Pubmed: 10814718
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
142Amano, ...
Pubmed: 10944854
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseU
173Obata, ...
Pubmed: 10991688
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
174Obata, ...
Pubmed: 10991688
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
175Obata, ...
Pubmed: 10991688
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
176Obata, ...
Pubmed: 10991688
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
177Obata, ...
Pubmed: 10991688
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
195Hampson, ...
Pubmed: 10991689
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
196Hampson, ...
Pubmed: 10991689
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
197Hampson, ...
Pubmed: 10991689
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
213Orrico, ...
Pubmed: 11007980
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
237Bourdon, ...
Pubmed: 11214906
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseU
238Bourdon, ...
Pubmed: 11214906
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseU
239Bourdon, ...
Pubmed: 11214906
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseU
270Trappe, ...
Pubmed: 11309679
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
271Trappe, ...
Pubmed: 11309679
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
272Trappe, ...
Pubmed: 11309679
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
273Trappe, ...
Pubmed: 11309679
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
274Trappe, ...
Pubmed: 11309679
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
275Trappe, ...
Pubmed: 11309679
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
300Auranen, ...
Pubmed: 11245712
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
332De Bona, ...
Pubmed: 10854091
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
333De Bona, ...
Pubmed: 10854091
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
334De Bona, ...
Pubmed: 10854091
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
360Directly submitted
c.502C>Tp.R168XNonsenseInter-domain regionNot knownMutation associated with diseaseF
397Directly submitted
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
407Directly submitted
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
408Directly submitted
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
412Directly submitted
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - AtypicalMutation associated with diseaseF
416Directly submitted
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - AtypicalMutation associated with diseaseF
425Directly submitted
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
428Directly submitted
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
444Directly submitted
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
457Directly submitted
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - AtypicalMutation associated with diseaseF
458Directly submitted
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
471Directly submitted
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - AtypicalMutation associated with diseaseF
937Bienvenu, ...
Pubmed: 10814719
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
931Bienvenu, ...
Pubmed: 10814719
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
925Bienvenu, ...
Pubmed: 10814719
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
923Bienvenu, ...
Pubmed: 10814719
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
894Directly submitted
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseU
892Directly submitted
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseU
893Directly submitted
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseU
891Directly submitted
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseU
877Xiang, ...
Pubmed: 10745042
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseU
876Xiang, ...
Pubmed: 10745042
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseU
875Xiang, ...
Pubmed: 10745042
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseU
1065Buyse, ...
Pubmed: 11055898
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1066Buyse, ...
Pubmed: 11055898
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1067Buyse, ...
Pubmed: 11055898
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1068Buyse, ...
Pubmed: 11055898
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1069Buyse, ...
Pubmed: 11055898
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1070Buyse, ...
Pubmed: 11055898
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1071Buyse, ...
Pubmed: 11055898
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1072Buyse, ...
Pubmed: 11055898
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1073Buyse, ...
Pubmed: 11055898
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1074Buyse, ...
Pubmed: 11055898
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1075Buyse, ...
Pubmed: 11055898
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1076Buyse, ...
Pubmed: 11055898
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1077Buyse, ...
Pubmed: 11055898
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1160Girard, ...
Pubmed: 11313764
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1161Girard, ...
Pubmed: 11313764
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1162Girard, ...
Pubmed: 11313764
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1208Chae, ...
Pubmed: 11913567
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
1227Erlandson, ...
Pubmed: 11469283
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
1228Erlandson, ...
Pubmed: 11469283
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
1307Laccone, ...
Pubmed: 11241840
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseU
1308Laccone, ...
Pubmed: 11241840
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseU
1309Laccone, ...
Pubmed: 11241840
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseU
1310Laccone, ...
Pubmed: 11241840
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseU
1311Laccone, ...
Pubmed: 11241840
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseU
1312Laccone, ...
Pubmed: 11241840
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseU
1313Laccone, ...
Pubmed: 11241840
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseU
1314Laccone, ...
Pubmed: 11241840
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseU
1315Laccone, ...
Pubmed: 11241840
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseU
1316Laccone, ...
Pubmed: 11241840
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseU
1317Laccone, ...
Pubmed: 11241840
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseU
1318Laccone, ...
Pubmed: 11241840
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseU
1319Laccone, ...
Pubmed: 11241840
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseU
1377Lam, ...
Pubmed: 11106359
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1405Nicolao, ...
Pubmed: 11462237
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
1406Nicolao, ...
Pubmed: 11462237
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
1407Nicolao, ...
Pubmed: 11462237
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
1445Vacca, ...
Pubmed: 11269512
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
1446Vacca, ...
Pubmed: 11269512
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
1447Vacca, ...
Pubmed: 11269512
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
1448Vacca, ...
Pubmed: 11269512
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
1467Vacca, ...
Pubmed: 11269512
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
1485Wan, ...
Pubmed: 10577905
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseU
1486Wan, ...
Pubmed: 10577905
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseU
1487Wan, ...
Pubmed: 10577905
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseU
1488Wan, ...
Pubmed: 10577905
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseU
1489Wan, ...
Pubmed: 10577905
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseU
1490Wan, ...
Pubmed: 10577905
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseU
1491Wan, ...
Pubmed: 10577905
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1492Wan, ...
Pubmed: 10577905
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1493Wan, ...
Pubmed: 10577905
c.502C>Tp.R168XNonsenseInter-domain regionNot Rett synd. - Unaffected family memberMutation associated with diseaseF
1601Bunyan, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1604Bunyan, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1642Bunyan, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1656Directly submitted
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1660Friez, ...
c.502C>Tp.R168XNonsenseInter-domain regionNot knownMutation associated with diseaseF
1664Friez, ...
c.502C>Tp.R168XNonsenseInter-domain regionNot knownMutation associated with diseaseF
1667Friez, ...
c.502C>Tp.R168XNonsenseInter-domain regionNot knownMutation associated with diseaseF
1676Friez, ...
c.502C>Tp.R168XNonsenseInter-domain regionNot knownMutation associated with diseaseF
1683Friez, ...
c.502C>Tp.R168XNonsenseInter-domain regionNot knownMutation associated with diseaseF
1691Friez, ...
c.502C>Tp.R168XNonsenseInter-domain regionNot knownMutation associated with diseaseF
1692Friez, ...
c.502C>Tp.R168XNonsenseInter-domain regionNot knownMutation associated with diseaseF
1696Friez, ...
c.502C>Tp.R168XNonsenseInter-domain regionNot knownMutation associated with diseaseF
1697Friez, ...
c.502C>Tp.R168XNonsenseInter-domain regionNot knownMutation associated with diseaseF
1710Friez, ...
c.502C>Tp.R168XNonsenseInter-domain regionNot knownMutation associated with diseaseF
1714Friez, ...
c.502C>Tp.R168XNonsenseInter-domain regionNot knownMutation associated with diseaseF
1720Friez, ...
c.502C>Tp.R168XNonsenseInter-domain regionNot knownMutation associated with diseaseF
1761Friez, ...
c.502C>Tp.R168XNonsenseInter-domain regionNot knownMutation associated with diseaseF
1796Friez, ...
c.502C>Tp.R168XNonsenseInter-domain regionNot knownMutation associated with diseaseF
1800Friez, ...
c.502C>Tp.R168XNonsenseInter-domain regionNot knownMutation associated with diseaseF
1821Bunyan, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1861Bunyan, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1889Directly submitted
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1890Directly submitted
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1925Schanen, ...
Pubmed: 15057977
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - classicalMutation associated with diseaseF
1937Schanen, ...
Pubmed: 15057977
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - classicalMutation associated with diseaseF
1949Schanen, ...
Pubmed: 15057977
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - atypicalMutation associated with diseaseF
1954Schanen, ...
Pubmed: 15057977
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - atypicalMutation associated with diseaseF
1955Schanen, ...
Pubmed: 15057977
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - classicalMutation associated with diseaseF
1960Schanen, ...
Pubmed: 15057977
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - atypicalMutation associated with diseaseF
2017Directly submitted
c.502C>Tp.R168XNonsenseInter-domain regionNot knownMutation associated with diseaseF
2022Directly submitted
c.502C>Tp.R168XNonsenseInter-domain regionNot knownMutation associated with diseaseF
2036Directly submitted
c.502C>Tp.R168XNonsenseInter-domain regionNot knownMutation associated with diseaseF
2227Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2228Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - AtypicalMutation associated with diseaseF
2229Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2230Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
2231Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2232Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
2233Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - AtypicalMutation associated with diseaseF
2234Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2235Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2236Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2237Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - AtypicalMutation associated with diseaseF
2238Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2239Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2240Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2241Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - AtypicalMutation associated with diseaseF
2242Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2243Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - AtypicalMutation associated with diseaseF
2244Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2245Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2247Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2248Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2249Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - AtypicalMutation associated with diseaseF
2250Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2251Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - AtypicalMutation associated with diseaseF
2252Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2253Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2254Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2255Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - AtypicalMutation associated with diseaseF
2256Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2257Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2258Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2259Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2260Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2261Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2262Cardiff, ...
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2404Monros, ...
Pubmed: 11738885
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Preserved speechMutation associated with diseaseF
2406Monros, ...
Pubmed: 11738885
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Congenital onsetMutation associated with diseaseF
2420Monros, ...
Pubmed: 11738885
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2422Monros, ...
Pubmed: 11738885
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Preserved speechMutation associated with diseaseF
2427Directly submitted
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2441Directly submitted
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2454Directly submitted
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2458Directly submitted
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Congenital onsetMutation associated with diseaseF
2462Directly submitted
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2463Directly submitted
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2469Directly submitted
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2474Directly submitted
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Preserved speechMutation associated with diseaseF
2485Directly submitted
c.502C>Tp.R168XNonsenseInter-domain regionRett syndrome - Congenital onsetMutation associated with diseaseF
2541Matijevic, ...
Pubmed: 17341617
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
2593Zahorakova, ...
Pubmed: 17387578
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2594Zahorakova, ...
Pubmed: 17387578
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2595Zahorakova, ...
Pubmed: 17387578
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2819Kim, ...
Pubmed: 16672765
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
2895Djarmati, ...
Pubmed: 17986102
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
2938Kammoun, ...
Pubmed: 15173251
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
2939Kammoun, ...
Pubmed: 15173251
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
2964Kammoun, ...
Pubmed: 15173251
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - atypicalMutation associated with diseaseF
2978Chae, ...
Pubmed: 15526954
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
2979Chae, ...
Pubmed: 15526954
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
2980Chae, ...
Pubmed: 15526954
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
3003Pan, ...
Pubmed: 12111643
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
3004Pan, ...
Pubmed: 12111643
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
3013Xiang, ...
Pubmed: 12081725
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
3040Yaron Y, ...
Pubmed: 12325033
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
3051Giunti L, ...
Pubmed: 11738883
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3052Giunti L, ...
Pubmed: 11738883
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3053Giunti L, ...
Pubmed: 11738883
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3054Giunti L, ...
Pubmed: 11738883
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3171Philippe C, ...
Pubmed: 16473305
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3172Philippe C, ...
Pubmed: 16473305
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3173Philippe C, ...
Pubmed: 16473305
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3174Philippe C, ...
Pubmed: 16473305
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3175Philippe C, ...
Pubmed: 16473305
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3176Philippe C, ...
Pubmed: 16473305
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3177Philippe C, ...
Pubmed: 16473305
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3178Philippe C, ...
Pubmed: 16473305
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3179Philippe C, ...
Pubmed: 16473305
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3180Philippe C, ...
Pubmed: 16473305
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3181Philippe C, ...
Pubmed: 16473305
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3182Philippe C, ...
Pubmed: 16473305
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3183Philippe C, ...
Pubmed: 16473305
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3184Philippe C, ...
Pubmed: 16473305
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3185Philippe C, ...
Pubmed: 16473305
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3186Philippe C, ...
Pubmed: 16473305
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3187Philippe C, ...
Pubmed: 16473305
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3188Philippe C, ...
Pubmed: 16473305
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3189Philippe C, ...
Pubmed: 16473305
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3190Philippe C, ...
Pubmed: 16473305
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3191Philippe C, ...
Pubmed: 16473305
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3192Philippe C, ...
Pubmed: 16473305
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3193Philippe C, ...
Pubmed: 16473305
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3194Philippe C, ...
Pubmed: 16473305
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3195Philippe C, ...
Pubmed: 16473305
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3196Philippe C, ...
Pubmed: 16473305
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3197Philippe C, ...
Pubmed: 16473305
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3354Leonard H, ...
Pubmed: 15228575
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3367Nielsen JB, ...
Pubmed: 11313756
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
3368Nielsen JB, ...
Pubmed: 11313756
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
3369Nielsen JB, ...
Pubmed: 11313756
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
3406Yamashita Y, ...
Pubmed: 11738864
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
3407Yamashita Y, ...
Pubmed: 11738864
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
3463Bienvenu T, ...
Pubmed: 12180070
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3464Bienvenu T, ...
Pubmed: 12180070
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3465Bienvenu T, ...
Pubmed: 12180070
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3466Bienvenu T, ...
Pubmed: 12180070
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3467Bienvenu T, ...
Pubmed: 12180070
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3468Bienvenu T, ...
Pubmed: 12180070
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3469Bienvenu T, ...
Pubmed: 12180070
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3470Bienvenu T, ...
Pubmed: 12180070
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3471Bienvenu T, ...
Pubmed: 12180070
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3472Bienvenu T, ...
Pubmed: 12180070
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3473Bienvenu T, ...
Pubmed: 12180070
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3474Bienvenu T, ...
Pubmed: 12180070
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3475Bienvenu T, ...
Pubmed: 12180070
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3476Bienvenu T, ...
Pubmed: 12180070
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3477Bienvenu T, ...
Pubmed: 12180070
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3567Li, ...
Pubmed: 17089071
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3568Li, ...
Pubmed: 17089071
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3569Li, ...
Pubmed: 17089071
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3570Li, ...
Pubmed: 17089071
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3571Li, ...
Pubmed: 17089071
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3572Li, ...
Pubmed: 17089071
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3573Li, ...
Pubmed: 17089071
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3574Li, ...
Pubmed: 17089071
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3575Li, ...
Pubmed: 17089071
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3576Li, ...
Pubmed: 17089071
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3577Li, ...
Pubmed: 17089071
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3578Li, ...
Pubmed: 17089071
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3688Fukuda, ...
Pubmed: 15737703
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
3689Fukuda, ...
Pubmed: 15737703
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
3690Fukuda, ...
Pubmed: 15737703
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
3691Fukuda, ...
Pubmed: 15737703
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
3692Fukuda, ...
Pubmed: 15737703
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
3693Fukuda, ...
Pubmed: 15737703
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
3694Fukuda, ...
Pubmed: 15737703
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
3695Fukuda, ...
Pubmed: 15737703
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
3696Fukuda, ...
Pubmed: 15737703
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
3697Fukuda, ...
Pubmed: 15737703
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
3698Fukuda, ...
Pubmed: 15737703
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
3699Fukuda, ...
Pubmed: 15737703
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
3700Fukuda, ...
Pubmed: 15737703
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
3701Fukuda, ...
Pubmed: 15737703
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
3702Fukuda, ...
Pubmed: 15737703
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
3703Fukuda, ...
Pubmed: 15737703
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
3704Fukuda, ...
Pubmed: 15737703
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
3791Inui, ...
Pubmed: 11376998
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3815Herman, ...
Pubmed: 17505203
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
4067Lee SSJ, ...
Pubmed: 11738860
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
4140Milunsky, ...
Pubmed: 11960578
c.502C>Tp.R168Xnonsenseinter-domain regionNot knownMutation associated with diseaseF
4141Milunsky, ...
Pubmed: 11960578
c.502C>Tp.R168Xnonsenseinter-domain regionNot knownMutation associated with diseaseF
4142Milunsky, ...
Pubmed: 11960578
c.502C>Tp.R168Xnonsenseinter-domain regionNot knownMutation associated with diseaseF
4143Milunsky, ...
Pubmed: 11960578
c.502C>Tp.R168Xnonsenseinter-domain regionNot knownMutation associated with diseaseF
4144Milunsky, ...
Pubmed: 11960578
c.502C>Tp.R168Xnonsenseinter-domain regionNot knownMutation associated with diseaseF
4251de Lima, ...
Pubmed: 19722030
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
4252de Lima, ...
Pubmed: 19722030
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
4253de Lima, ...
Pubmed: 19722030
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
4254de Lima, ...
Pubmed: 19722030
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
4255de Lima, ...
Pubmed: 19722030
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
4256de Lima, ...
Pubmed: 19722030
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
4257de Lima, ...
Pubmed: 19722030
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
4258de Lima, ...
Pubmed: 19722030
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
4259de Lima, ...
Pubmed: 19722030
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
4260de Lima, ...
Pubmed: 19722030
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - AtypicalMutation associated with diseaseF
4305Fendri-Kriaa, ...
Pubmed: 20631224
c.502C>Tp.R168XnonsenseMBD, inter-domain region, TRD, TRD-NLS, C-termRett syndrome - classicalMutation associated with diseaseF
4371Monnerat, ...
Pubmed: 20031356
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
4372Monnerat, ...
Pubmed: 20031356
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
4373Monnerat, ...
Pubmed: 20031356
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - AtypicalMutation associated with diseaseF
4461Das, ...
c.502C>Tp.R168Xnonsenseinter-domain regionNot knownMutation associated with diseaseF
4462Das, ...
c.502C>Tp.R168Xnonsenseinter-domain regionNot knownMutation associated with diseaseF
4463Das, ...
c.502C>Tp.R168Xnonsenseinter-domain regionNot knownMutation associated with diseaseF
4464Das, ...
c.502C>T p.R168Xnonsenseinter-domain regionNot knownMutation associated with diseaseF
4465Das, ...
c.502C>T p.R168Xnonsenseinter-domain regionNot knownMutation associated with diseaseF
4715Hadzsiev, ...
Pubmed: 21160487
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
4716Hadzsiev, ...
Pubmed: 21160487
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
4811Corbani, ...
Pubmed: 21954873
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
4842Psoni, ...
Pubmed: 21982064
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
4843Psoni, ...
Pubmed: 21982064
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
4870Zvereff, ...
Pubmed: 22277191
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
4871Zvereff, ...
Pubmed: 22277191
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
4872Zvereff, ...
Pubmed: 22277191
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
4873Zvereff, ...
Pubmed: 22277191
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
5055Das, ...
Pubmed: 23262346
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
5056Das, ...
Pubmed: 23262346
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
5057Das, ...
Pubmed: 23262346
c.502C>Tp.R168Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
6737Daniela Zahorakova, ...
Pubmed: 26984561
c.502C>Tp.R168*nonsenseInter-domain regionNot Rett synd. - mental retardation and autism combinedMutation associated with diseaseF
6501Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6500Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6499Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6498Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6497Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6496Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6495Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6494Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6493Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6492Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6491Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6490Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6489Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6488Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6487Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6486Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6485Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6484Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6483Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6482Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6481Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6480Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6479Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6478Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6477Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6476Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6475Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6474Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6473Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6472Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6471Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6470Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6469Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6468Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6467Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6466Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6465Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6464Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6463Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6462Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
6461Directly submitted
c.502C>Tp.R168XnonsenseInter-domainRett syndrome - classicalMutation associated with diseaseF
7020Huong Le Thi Thanh , ...
Pubmed: 30081849
c.502C > T nonsenseInter-domain regionRett syndrome - classicalMutation associated with diseaseF
7021Huong Le Thi Thanh , ...
Pubmed: 30081849
c.502C > T nonsenseInter-domain regionRett syndrome - classicalMutation associated with diseaseF
7033Tsutomu Shioda , ...
Pubmed: 29631775
c.502C>T  nonsenseInter-domain region Rett syndrome - classicalMutation associated with diseaseF
6638Directly submitted
c.506_507dupAGp.Q170fsframeshift insertion or deletionInter-domainNot Rett synd. - inf encephMutation associated with diseaseM
301Auranen, ...
Pubmed: 11245712
c.508C>Tp.Q170XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
1078Buyse, ...
Pubmed: 11055898
c.508C>Tp.Q170XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1320Laccone, ...
Pubmed: 11241840
c.508C>Tp.Q170XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseU
3198Philippe C, ...
Pubmed: 16473305
c.508C>Tp.Q170Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3408Yamashita Y, ...
Pubmed: 11738864
c.508C>Tp.Q170Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
3478Bienvenu T, ...
Pubmed: 12180070
c.508C>Tp.Q170Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
3705Fukuda, ...
Pubmed: 15737703
c.508C>Tp.Q170Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
2746Campos, ...
Pubmed: 17084570
c.514C>Tp.P172Smissenseinter-domain regionNot Rett synd. - mental retardation and autism combinedUnknownM
3937Campos, ...
Pubmed: 17084570
c.514C>Tp.P172Smissenseinter-domain regionNot Rett synd. - unaffected family memberUnknownF
4179Directly submitted
c.515C>Tp.P172Lmissenseinter-domain regionNot Rett synd. - sporadic mental retardationPolymorphism not causing diseaseF
4180Directly submitted
c.515C>Tp.P172Lmissenseinter-domain regionNot Rett synd. - unaffected family memberPolymorphism not causing diseaseM
1370Laccone, ...
Pubmed: 11241840
c.517C>Gp.P173AMissenseInter-domain regionRett syndrome - Not certainUnknownU
4466Das, ...
c.518C>Gp.P173Rmissenseinter-domain regionNot knownUnknownF
4467Das, ...
c.518C>Gp.P173Rmissenseinter-domain regionNot Rett synd. - unaffected family memberUnknownF
4468Das, ...
c.518C>Gp.P173Rmissenseinter-domain regionNot knownUnknownF
6590Directly submitted
c.518C>Gp.P173RmissenseInter-domainNot Rett synd. - unaffected family memberUnknownF
1679Friez, ...
c.523A>Tp.K175XNonsenseInter-domain regionNot knownMutation associated with diseaseF
1613Bunyan, ...
c.527C>Gp.P176RMissenseInter-domain regionRett syndrome - Not certainPolymorphism not causing diseaseM
1614Bunyan, ...
c.527C>Gp.P176RMissenseInter-domain regionNot Rett synd. - Unaffected family memberPolymorphism not causing diseaseF
2652Lesca, ...
Pubmed: 17383248
c.527C>Gp.P176Rmissenseinter-domain regionNot Rett synd. - sporadic mental retardationPolymorphism not causing diseaseU
3941Fukuda, ...
Pubmed: 15737703
c.527C>Gp.P176Rmissenseinter-domain regionRett syndrome - NKPolymorphism not causing diseaseF
3942Fukuda, ...
Pubmed: 15737703
c.527C>Gp.P176Rmissenseinter-domain regionNot Rett synd. - unaffected family memberPolymorphism not causing diseaseM
3943Fukuda, ...
Pubmed: 15737703
c.527C>Gp.P176Rmissenseinter-domain regionNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
3944Fukuda, ...
Pubmed: 15737703
c.527C>Gp.P176Rmissenseinter-domain regionNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
1674Friez, ...
c.529A>Tp.K177XNonsenseInter-domain regionNot knownMutation associated with diseaseF
1247Huppke, ...
Pubmed: 12075485
c.531delAp.K177fsFrameshift insertion or deletionInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
6588Directly submitted
c.535C>Tp.P179Smissenseinter-domainNot Rett synd. - mental retardationUnknownF
3199Philippe C, ...
Pubmed: 16473305
c.538A>Tp.K180Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
1564Beyer, ...
Pubmed: 12384770
c.542C>Tp.A181VMissenseInter-domain regionNot Rett synd. - autism onlyUnknownM
1565Beyer, ...
Pubmed: 12384770
c.542C>Tp.A181VMissenseInter-domain regionNot Rett synd. - Unaffected family memberUnknownF
3745Fukuda, ...
Pubmed: 15737703
c.543_544delTCp.P182fsframeshift insertion or deletioninter-domain regionRett syndrome - classicalMutation associated with diseaseF
2771Donzel-Javouhey, ...
Pubmed: 16763963
c.547G>Cp.G183Rmissenseinter-domain regionNot Rett synd. - mental retardationPolymorphism not causing diseaseF
3981Donzel-Javouhey, ...
Pubmed: 16763963
c.547G>Cp.G183Rmissenseinter-domain regionNot Rett synd. - unaffected family memberPolymorphism not causing diseaseF
1109Buyse, ...
Pubmed: 11055898
c.554delGp.G185fsFrameshift insertion or deletionInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1468Vacca, ...
Pubmed: 11269512
c.566delGp.G189fsFrameshift insertion or deletionInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
4374Monnerat, ...
Pubmed: 20031356
c.566dupGp.R190fsframeshift insertion or deletioninter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
1969Mari F, ...
Pubmed: 15691364
c.567dupAp.R190fsFrameshift insertion or deletionInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1970Mari F, ...
Pubmed: 15691364
c.567dupAp.R190fsFrameshift insertion or deletionInter-domain regionNot knownMutation associated with diseaseF
3022Yntema HG, ...
Pubmed: 12111644
c.573C>Tp.P191Psilentinter-domain regionNot Rett synd. - mental retardationSilent polymorphismM
6738Daniela Zahorakova, ...
Pubmed: 26984561
c.573delCp.S194Afs*16frameshift insertion or deletionInter-domain regionRett syndrome - congenital onsetMutation associated with diseaseF
4874Zvereff, ...
Pubmed: 22277191
c.574A>Tp.K192Xnonsenseinter-domain regionRett syndrome - classicalMutation associated with diseaseF
209Orrico, ...
Pubmed: 11007980
c.582C>Tp.S194SSilentInter-domain regionNot Rett synd. - Sporadic mental retardationSilent polymorphismF
210Orrico, ...
Pubmed: 11007980
c.582C>Tp.S194SSilentInter-domain regionNot Rett synd. - Sporadic mental retardationSilent polymorphismF
431Directly submitted
c.582C>Tp.S194SSilentInter-domain regionRett syndrome - AtypicalSilent polymorphismF
432Directly submitted
c.582C>Tp.S194SSilentInter-domain regionNot Rett synd. - Unaffected family memberSilent polymorphismM
1006Cheadle, ...
Pubmed: 10767337
c.582C>Tp.S194SSilentInter-domain regionRett syndrome - Not certainSilent polymorphismU
1005Cheadle, ...
Pubmed: 10767337
c.582C>Tp.S194SSilentInter-domain regionRett syndrome - Not certainSilent polymorphismU
1004Cheadle, ...
Pubmed: 10767337
c.582C>Tp.S194SSilentInter-domain regionRett syndrome - Not certainSilent polymorphismU
1003Cheadle, ...
Pubmed: 10767337
c.582C>Tp.S194SSilentInter-domain regionRett syndrome - Not certainSilent polymorphismU
952Bienvenu, ...
Pubmed: 10814719
c.582C>Tp.S194SSilentInter-domain regionRett syndrome - ClassicalSilent polymorphismF
849Amir, ...
Pubmed: 10508514
c.582C>Tp.S194SSilentInter-domain regionNot Rett synd. - Unaffected family memberSilent polymorphismM
848Amir, ...
Pubmed: 10508514
c.582C>Tp.S194SSilentInter-domain regionRett syndrome - Not certainSilent polymorphismF
847Amir, ...
Pubmed: 10508514
c.582C>Tp.S194SSilentInter-domain regionRett syndrome - Not certainSilent polymorphismF
1124Buyse, ...
Pubmed: 11055898
c.582C>Tp.S194SSilentInter-domain regionRett syndrome - Not certainSilent polymorphismF
1125Buyse, ...
Pubmed: 11055898
c.582C>Tp.S194SSilentInter-domain regionRett syndrome - Not certainSilent polymorphismF
1193Bourdon, ...
Pubmed: 11214906
c.582C>Tp.S194SSilentInter-domain regionRett syndrome - Not certainSilent polymorphismU
1241Huppke, ...
Pubmed: 10814718
c.582C>Tp.S194SSilentInter-domain regionRett syndrome - Not certainSilent polymorphismF
1576Beyer, ...
Pubmed: 12384770
c.582C>Tp.S194SSilentInter-domain regionNot Rett synd. - autism onlySilent polymorphismF
1640Bunyan, ...
c.582C>Tp.S194SSilentInter-domain regionRett syndrome - Not certainSilent polymorphismM
1811Friez, ...
c.582C>Tp.S194SSilentInter-domain regionNot knownSilent polymorphismF
1891Directly submitted
c.582C>Tp.S194SSilentInter-domain regionNot Rett synd. - Sporadic mental retardationSilent polymorphismM
2037Directly submitted
c.582C>Tp.S194SSilentInter-domain regionNot knownSilent polymorphismF
2044Directly submitted
c.582C>Tp.S194SSilentInter-domain regionNot knownSilent polymorphismF
2401Directly submitted
c.582C>Tp.S194SSilentInter-domain regionRett syndrome - Congenital onsetSilent polymorphismF
2772Donzel-Javouhey, ...
Pubmed: 16763963
c.582C>Tp.S194Ssilentinter-domain regionNot Rett synd. - non-specfic mental retardationSilent polymorphismF
3023Yntema HG, ...
Pubmed: 12111644
c.582C>Tp.S194Ssilentinter-domain regionNot Rett synd. - mental retardationSilent polymorphismM
3024Yntema HG, ...
Pubmed: 12111644
c.582C>Tp.S194Ssilentinter-domain regionNot Rett synd. - mental retardationSilent polymorphismM
4200Lobo-Menendez, ...
Pubmed: 12555243
c.582C>Tp.S194Ssilentinter-domain regionNot Rett synd. - autismSilent polymorphismU
4273de Lima, ...
Pubmed: 19722030
c.582C>Tp.S194Ssilentinter-domain regionRett syndrome - not certainSilent polymorphismF
4375Monnerat, ...
Pubmed: 20031356
c.582C>Tp.S194Ssilentinter-domain regionNot Rett synd. - unaffected family memberSilent polymorphismF
4627Piton, ...
Pubmed: 20479760
c.582C>Tp.S194Ssilentinter-domain regionNot Rett synd. - normal controlSilent polymorphismU
4628Piton, ...
Pubmed: 20479760
c.582C>Tp.S194Ssilentinter-domain regionNot Rett synd. - normal controlSilent polymorphismU
4750Hadzsiev, ...
Pubmed: 21160487
c.582C>Tp.S194Ssilentinter-domain regionRett syndrome - not certainSilent polymorphismF
5070Das, ...
Pubmed: 23262346
c.582C>Tp.S194Ssilentinter-domain regionRett syndrome - not certainSilent polymorphismF
5186Maortua, ...
Pubmed: 23810759
c.582C>Tp.S194Ssilentinter-domain regionRett syndrome - not certainSilent polymorphismF
5187Maortua, ...
Pubmed: 23810759
c.582C>Tp.S194Ssilentinter-domain regionNot Rett synd. - normal controlSilent polymorphismU
5188Maortua, ...
Pubmed: 23810759
c.582C>Tp.S194Ssilentinter-domain regionNot Rett synd. - normal controlSilent polymorphismU
6853Daniela Zahorakova, ...
Pubmed: 26984561
c.582C>Tp.S194Ssilentinter-domain regionNot Rett synd. - autismSilent polymorphismF
6854Daniela Zahorakova, ...
Pubmed: 26984561
c.582C>Tp.S194Ssilentinter-domain regionNot Rett synd. - mental retardationSilent polymorphismF
2136Cardiff, ...
c.585C>Tp.G195GSilentInter-domain regionNot knownSilent polymorphismF
2368Akane Shibayama, ...
Pubmed: 15211631
c.587C>Gp.T196SMissenseInter-domain regionNot Rett synd. - SchizophreniaPolymorphism not causing diseaseF
2632Zahorakova, ...
Pubmed: 17387578
c.587C>Gp.T196Smissenseinter-domain regionRett syndrome - ClassicalPolymorphism not causing diseaseF
3029Yntema HG, ...
Pubmed: 12111644
c.587C>Gp.T196Smissenseinter-domain regionNot Rett synd. - mental retardationPolymorphism not causing diseaseM
3030Yntema HG, ...
Pubmed: 12111644
c.587C>Gp.T196Smissenseinter-domain regionNot Rett synd. - mental retardationPolymorphism not causing diseaseM
3031Yntema HG, ...
Pubmed: 12111644
c.587C>Gp.T196Smissenseinter-domain regionNot Rett synd. - mental retardationPolymorphism not causing diseaseM
3975Zahorakova, ...
Pubmed: 17387578
c.587C>Gp.T196Smissenseinter-domain regionNot Rett synd. - unaffected family memberPolymorphism not causing diseaseM
4051Yntema HG, ...
Pubmed: 12111644
c.587C>Gp.T196Smissenseinter-domain regionNot Rett synd. - unaffected family memberPolymorphism not causing diseaseM
4052Yntema HG, ...
Pubmed: 12111644
c.587C>Gp.T196Smissenseinter-domain regionNot Rett synd. - unaffected family memberPolymorphism not causing diseaseF
4053Yntema HG, ...
Pubmed: 12111644
c.587C>Gp.T196Smissenseinter-domain regionNot Rett synd. - unaffected family memberPolymorphism not causing diseaseM
4054Yntema HG, ...
Pubmed: 12111644
c.587C>Gp.T196Smissenseinter-domain regionNot Rett synd. - unaffected family memberPolymorphism not causing diseaseF
4055Yntema HG, ...
Pubmed: 12111644
c.587C>Gp.T196Smissenseinter-domain regionNot Rett synd. - unaffected family memberPolymorphism not causing diseaseF
4056Yntema HG, ...
Pubmed: 12111644
c.587C>Gp.T196Smissenseinter-domain regionNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseF
4621Piton, ...
Pubmed: 20479760
c.587C>Gp.T196Smissenseinter-domain regionNot Rett synd. - schizophreniaPolymorphism not causing diseaseU
6855Daniela Zahorakova, ...
Pubmed: 26984561
c.587C>Gp.T196SMissenseinter-domain regionNot Rett synd. - mental retardationPolymorphism not causing diseaseF
46Hoffbuhr, ...
Pubmed: 11402105
c.590C>Tp.T197MMissenseInter-domain regionRett syndrome - Not certainPolymorphism not causing diseaseF
373Directly submitted
c.590C>Tp.T197MMissenseInter-domain regionNot Rett synd. - Unaffected family memberPolymorphism not causing diseaseM
375Directly submitted
c.590C>Tp.T197MMissenseInter-domain regionNot Rett synd. - Unaffected family memberPolymorphism not causing diseaseF
376Directly submitted
c.590C>Tp.T197MMissenseInter-domain regionNot Rett synd. - Unaffected family memberPolymorphism not causing diseaseF
1534Laccone, ...
Pubmed: 12161600
c.590C>Tp.T197MMissenseInter-domain regionNot Rett synd. - not certainPolymorphism not causing diseaseM
1535Laccone, ...
Pubmed: 12161600
c.590C>Tp.T197MMissenseInter-domain regionNot Rett synd. - Unaffected family memberPolymorphism not causing diseaseF
2124Cardiff, ...
c.590C>Tp.T197MMissenseInter-domain regionNot knownPolymorphism not causing diseaseF
2747Campos, ...
Pubmed: 17084570
c.590C>Tp.T197Mmissenseinter-domain regionNot Rett synd. - mental retardationPolymorphism not causing diseaseM
3515Bienvenu T, ...
Pubmed: 12180070
c.590C>Tp.T197Mmissenseinter-domain regionRett syndrome - not certainPolymorphism not causing diseaseF
3938Campos, ...
Pubmed: 17084570
c.590C>Tp.T197Mmissenseinter-domain regionNot Rett synd. - unaffected family memberPolymorphism not causing diseaseF
3939Campos, ...
Pubmed: 17084570
c.590C>Tp.T197Mmissenseinter-domain regionNot Rett synd. - unaffected family memberPolymorphism not causing diseaseM
4858Psoni, ...
Pubmed: 21982064
c.590C>Tp.T197Mmissenseinter-domain regionRett syndrome - classicalPolymorphism not causing diseaseF
5076Wang, ...
Pubmed: 23591336
c.590C>Tp.T197Mmissenseinter-domain regionNot Rett synd. - autismPolymorphism not causing diseaseM
6908Directly submitted
c.590C>Tp.Thr197MetmissenseInter-domain regionNot Rett synd.Polymorphism not causing diseaseF
2375Akane Shibayama, ...
Pubmed: 15211631
c.591G>Ap.T197TSilentInter-domain regionNot Rett synd. - autism onlySilent polymorphismM
930Bienvenu, ...
Pubmed: 10814719
c.592A>Tp.R198XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
3200Philippe C, ...
Pubmed: 16473305
c.592A>Tp.R198Xnonsenseinter-domain regionRett syndrome - not certainMutation associated with diseaseF
4620Piton, ...
Pubmed: 20479760
c.596C>Ap.P199Hmissenseinter-domain regionNot Rett synd. - schizophreniaUnknownF
430Directly submitted
c.598A>Tp.K200XNonsenseInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
1862Bunyan, ...
c.598A>Tp.K200XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
135Amano, ...
Pubmed: 10944854
c.601dupGp.A201fsFrameshift insertion or deletionInter-domain regionRett syndrome - Not certainMutation associated with diseaseU
141Amano, ...
Pubmed: 10944854
c.602C>Tp.A201VMissenseInter-domain regionRett syndrome - Not certainPolymorphism not causing diseaseU
151Amano, ...
Pubmed: 10944854
c.602C>Tp.A201VMissenseInter-domain regionNot Rett synd. - Unaffected family memberPolymorphism not causing diseaseF
1385Lam, ...
Pubmed: 11106359
c.602C>Tp.A201VMissenseInter-domain regionNot knownPolymorphism not causing diseaseF
1430Nicolao, ...
Pubmed: 11462237
c.602C>Tp.A201VMissenseInter-domain regionRett syndrome - ClassicalPolymorphism not causing diseaseF
1599Bunyan, ...
c.602C>Tp.A201VMissenseInter-domain regionRett syndrome - Not certainPolymorphism not causing diseaseF
1600Bunyan, ...
c.602C>Tp.A201VMissenseInter-domain regionNot Rett synd. - Unaffected family memberPolymorphism not causing diseaseF
1973Tero Ylisaukko-oja, ...
Pubmed: 15578581
c.602C>Tp.A201VMissenseInter-domain regionNot Rett synd. - Sporadic mental retardationPolymorphism not causing diseaseM
2665Coutinho, ...
Pubmed: 17427193
c.602C>Tp.A201Vmissenseinter-domain regionNot Rett synd. - AutismPolymorphism not causing diseaseM
2748Campos, ...
Pubmed: 17084570
c.602C>Tp.A201Vmissenseinter-domain regionNot Rett synd. - mental retardationPolymorphism not causing diseaseM
2749Campos, ...
Pubmed: 17084570
c.602C>Tp.A201Vmissenseinter-domain regionNot Rett synd. - mental retardationPolymorphism not causing diseaseM
2750Campos, ...
Pubmed: 17084570
c.602C>Tp.A201Vmissenseinter-domain regionNot Rett synd. - mental retardationPolymorphism not causing diseaseM
2767Moog, ...
Pubmed: 16376510
c.602C>Tp.A201Vmissenseinter-domain regionNot Rett synd. - mental retardationPolymorphism not causing diseaseM
2813Kim, ...
Pubmed: 16672765
c.602C>Tp.A201Vmissenseinter-domain regionRett syndrome - classicalPolymorphism not causing diseaseF
3081Giunti L, ...
Pubmed: 11738883
c.602C>Tp.A201Vmissenseinter-domain regionRett syndrome - not certainPolymorphism not causing diseaseF
3516Bienvenu T, ...
Pubmed: 12180070
c.602C>Tp.A201Vmissenseinter-domain regionRett syndrome - not certainPolymorphism not causing diseaseF
3804Wong, ...
Pubmed: 18174559
c.602C>Tp.A201Vmissenseinter-domain regionRett syndrome - classicalPolymorphism not causing diseaseF
3808Wong, ...
Pubmed: 18174559
c.602C>Tp.A201Vmissenseinter-domain regionNot Rett synd. - autismPolymorphism not causing diseaseM
3929Moog, ...
Pubmed: 16376510
c.602C>Tp.A201Vmissenseinter-domain regionNot Rett synd. - unaffected family memberPolymorphism not causing diseaseM
3952Fukuda, ...
Pubmed: 15737703
c.602C>Tp.A201Vmissenseinter-domain regionRett syndrome - NKPolymorphism not causing diseaseF
3953Fukuda, ...
Pubmed: 15737703
c.602C>Tp.A201Vmissenseinter-domain regionNot Rett synd. - unaffected family memberPolymorphism not causing diseaseM
3954Fukuda, ...
Pubmed: 15737703
c.602C>Tp.A201Vmissenseinter-domain regionNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
3955Fukuda, ...
Pubmed: 15737703
c.602C>Tp.A201Vmissenseinter-domain regionNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
3956Fukuda, ...
Pubmed: 15737703
c.602C>Tp.A201Vmissenseinter-domain regionRett syndrome - NKPolymorphism not causing diseaseF
3957Fukuda, ...
Pubmed: 15737703
c.602C>Tp.A201Vmissenseinter-domain regionRett syndrome - NKPolymorphism not causing diseaseF
4751Hadzsiev, ...
Pubmed: 21160487
c.602C>Tp.A201Vmissenseinter-domain regionRett syndrome - not certainPolymorphism not causing diseaseF
5069Das, ...
Pubmed: 23262346
c.602C>Tp.A201Vmissenseinter-domain regionRett syndrome - not certainPolymorphism not causing diseaseF
5077Wang, ...
Pubmed: 23591336
c.602C>Tp.A201Vmissenseinter-domain regionNot Rett synd. - autismPolymorphism not causing diseaseM
5078Wang, ...
Pubmed: 23591336
c.602C>Tp.A201Vmissenseinter-domain regionNot Rett synd. - unaffected family memberPolymorphism not causing diseaseF
5079Wang, ...
Pubmed: 23591336
c.602C>Tp.A201Vmissenseinter-domain regionNot Rett synd. - depressive diseasePolymorphism not causing diseaseM
6898Directly submitted
c.602C>Tp.Ala213ValmissenseTRDNot knownPolymorphism not causing diseaseM
4391Monnerat, ...
Pubmed: 20031356
c.603G>Ap.A201Asilentinter-domain regionNot Rett synd. - normal controlSilent polymorphismF
5330Xiao Zhou, ...
c.605G>Ap.Arg202HisMissenseInter-domainRett syndrome - atypicalUnknownF
217Orrico, ...
Pubmed: 11007980
c.608C>Tp.T203MMissenseInter-domain regionRett syndrome - atypicalPolymorphism not causing diseaseF
1126Buyse, ...
Pubmed: 11055898
c.608C>Tp.T203MMissenseInter-domain regionRett syndrome - Not certainPolymorphism not causing diseaseF
1371Laccone, ...
Pubmed: 11241840
c.608C>Tp.T203MMissenseInter-domain regionRett syndrome - Not certainPolymorphism not causing diseaseU
1547Buyse, ...
Pubmed: 11055898
c.608C>Tp.T203MMissenseInter-domain regionNot Rett synd. - Unaffected family memberPolymorphism not causing diseaseM
1850Bunyan, ...
c.608C>Tp.T203MMissenseInter-domain regionRett syndrome - Not certainPolymorphism not causing diseaseF
1851Bunyan, ...
c.608C>Tp.T203MMissenseInter-domain regionNot Rett synd. - Unaffected family memberPolymorphism not causing diseaseM
2123Cardiff, ...
c.608C>Tp.T203MMissenseInter-domain regionNot knownPolymorphism not causing diseaseF
3262Philippe C, ...
Pubmed: 16473305
c.608_609insAp.S204fsframeshift insertion or deletioninter-domain regionRett syndrome - not certainMutation associated with diseaseF
4222Psoni, ...
Pubmed: 20098342
c.608C>Tp.T203Mmissenseinter-domain regionRett syndrome - male variantPolymorphism not causing diseaseM
4471Das, ...
c.608C>Tp.T203Mmissenseinter-domain regionNot knownPolymorphism not causing diseaseF
4472Das, ...
c.608C>Tp.T203Mmissenseinter-domain regionNot Rett synd. - unaffected family memberPolymorphism not causing diseaseF
4473Das, ...
c.608C>Tp.T203Mmissenseinter-domain regionNot knownPolymorphism not causing diseaseF
4752Hadzsiev, ...
Pubmed: 21160487
c.608C>Tp.T203Mmissenseinter-domain regionRett syndrome - not certainPolymorphism not causing diseaseF
4859Psoni, ...
Pubmed: 21982064
c.608C>Tp.T203Mmissenseinter-domain regionRett syndrome - atypicalPolymorphism not causing diseaseF
4860Psoni, ...
Pubmed: 21982064
c.608C>Tp.T203Mmissenseinter-domain regionNot Rett synd. - mental retardationPolymorphism not causing diseaseM
6911Directly submitted
c.608C>Tp.Thr203MetmissenseInter-domain regionNot Rett synd. - not certainPolymorphism not causing diseaseM
2751Campos, ...
Pubmed: 17084570
c.609G>Ap.T203Tsilentinter-domain regionNot Rett synd. - mental retardationSilent polymorphismM
1079Buyse, ...
Pubmed: 11055898
c.611C>Gp.S204XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1726Friez, ...
c.611C>Gp.S204XNonsenseInter-domain regionNot knownMutation associated with diseaseF
1873Bunyan, ...
c.611_612delinsAGp.S204Xframeshift combined insertion and deletionInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1943Schanen, ...
Pubmed: 15057977
c.611C>Gp.S204XNonsenseInter-domain regionRett syndrome - atypicalMutation associated with diseaseF
2596Zahorakova, ...
Pubmed: 17387578
c.611C>Gp.S204Xnonsenseinter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
6587Directly submitted
c.611C>Ap.S204Xnonsenseinter-domainRett syndrome - classicalMutation associated with diseaseF
6586Directly submitted
c.611C>Gp.S204Xnonsenseinter-domainRett syndrome - classicalMutation associated with diseaseF
276Trappe, ...
Pubmed: 11309679
c.613G>Tp.E205XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseF
1321Laccone, ...
Pubmed: 11241840
c.613G>Tp.E205XNonsenseInter-domain regionRett syndrome - Not certainMutation associated with diseaseU
3749Fukuda, ...
Pubmed: 15737703
c.616_1122del507p.G206_E374delinframe insertion or deletioninter-domain region, TRD, TRD-NLS, C-termRett syndrome - classicalMutation associated with diseaseF
2091Cardiff, ...
c.617delGp.G206fsFrameshift insertion or deletionInter-domain regionRett syndrome - ClassicalMutation associated with diseaseF
2666Coutinho, ...
Pubmed: 17427193
c.617G>Cp.G206Amissenseinter-domain regionNot Rett synd. - AutismUnknownM
6900Directly submitted
c.617G>Cp.Gly218AlamissenseTRDNot knownUnknownF
843Amir, ...
Pubmed: 10508514
c.620dupTp.Q208fsFrameshift insertion or deletionTRDRett syndrome - ClassicalMutation associated with diseaseU
1449Vacca, ...
Pubmed: 11269512
c.622C>Tp.Q208XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
4632Piton, ...
Pubmed: 20479760
c.627G>Ap.V209VsilentTRDNot Rett synd. - normal controlSilent polymorphismU
1301Laccone, ...
Pubmed: 11241840
c.629A>Tp.K210IMissenseTRDRett syndrome - Not certainUnknownU
3786Ariani F, ...
Pubmed: 15241799
c.631-?_657+?delp.?exonic deletionMBDRett syndrome - classicalMutation associated with diseaseF
3787Ariani F, ...
Pubmed: 15241799
c.631-?_657+?dupp.?exonic duplicationMBDRett syndrome - preserved speechUnknownF
2134Cardiff, ...
c.633G>Cp.R211SMissenseTRDRett syndrome - ClassicalPolymorphism not causing diseaseF
2135Cardiff, ...
c.633G>Cp.R211SMissenseTRDNot Rett synd. - Unaffected family memberPolymorphism not causing diseaseM
5189Maortua, ...
Pubmed: 23810759
c.633G>Cp.R211SmissenseTRDNot Rett synd. - normal controlPolymorphism not causing diseaseU
1248Huppke, ...
Pubmed: 12075485
c.635_655del21p.V212_K219delinsEIn-frame insertion or deletionTRDRett syndrome - Not certainUnknownF
1774Friez, ...
c.651_652delTGp.G218fsFrameshift insertion or deletionTRDNot knownMutation associated with diseaseF
2542Matijevic, ...
Pubmed: 17341617
c.651_652delTGp.G218fsframeshift insertion or deletionTRDRett syndrome - not certainMutation associated with diseaseF
2103Cardiff, ...
c.654_657delGAAGp.K219fsFrameshift insertion or deletionTRDRett syndrome - ClassicalMutation associated with diseaseF
3809Wong, ...
Pubmed: 18174559
c.660C>Tp.L220LsilentTRDNot Rett synd. - autismSilent polymorphismF
2421Directly submitted
c.666C>Gp.V222VSilentTRDRett syndrome - Preserved speechSilent polymorphismF
2520Tejada M-I, ...
Pubmed: 16879196
c.666C>Gp.V222VSilentTRDNot Rett synd. - Sporadic mental retardationSilent polymorphismM
4274de Lima, ...
Pubmed: 19722030
c.666C>Gp.V222VsilentTRDRett syndrome - not certainSilent polymorphismF
6612Directly submitted
c.667A>Tp.K223XnonsenseTRDRett syndrome - classicalMutation associated with diseaseF
4318Raizis, ...
Pubmed: 19652677
c.669_686conAL078639.5:g.94544_94611p.K223NfsX12frameshift insertion or deletionTRD, TRD-NLS, C-termRett syndrome - not certainMutation associated with diseaseF
4474Das, ...
c.673C>Ap.P225TmissenseTRDNot knownMutation associated with diseaseF
302Auranen, ...
Pubmed: 11245712
c.674C>Gp.P225RMissenseTRDRett syndrome - ClassicalMutation associated with diseaseF
335De Bona, ...
Pubmed: 10854091
c.674C>Gp.P225RMissenseTRDRett syndrome - ClassicalMutation associated with diseaseF
1249Huppke, ...
Pubmed: 12075485
c.674C>Gp.P225RMissenseTRDRett syndrome - Not certainMutation associated with diseaseF
1250Huppke, ...
Pubmed: 12075485
c.674C>Gp.P225RMissenseTRDRett syndrome - Not certainMutation associated with diseaseF
1251Huppke, ...
Pubmed: 12075485
c.674C>Gp.P225RMissenseTRDRett syndrome - Not certainMutation associated with diseaseF
1523Yamada, ...
Pubmed: 11524741
c.674C>Gp.P225RMissenseTRDRett syndrome - atypicalMutation associated with diseaseU
1634Bunyan, ...
c.674C>Gp.P225RMissenseTRDRett syndrome - Not certainMutation associated with diseaseF
1651Directly submitted
c.674C>Gp.P225RMissenseTRDRett syndrome - Not certainMutation associated with diseaseF
1659Moog, ...
Pubmed: 12615169
c.674C>Tp.P225LMissenseTRDRett syndrome - Male variantUnknownM
2173Cardiff, ...
c.674C>Gp.P225RMissenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2429Monros, ...
Pubmed: 11738885
c.674C>Tp.P225LMissenseTRDRett syndrome - ClassicalUnknownF
2489Peter Huppke, ...
Pubmed: 16690727
c.674C>Gp.P225RMissenseTRDNot knownMutation associated with diseaseF
2597Zahorakova, ...
Pubmed: 17387578
c.674C>Gp.P225RmissenseTRDRett syndrome - ClassicalMutation associated with diseaseF
3000Pan, ...
Pubmed: 12111643
c.674C>Gp.P225RmissenseTRDRett syndrome - classicalMutation associated with diseaseF
3138Philippe C, ...
Pubmed: 16473305
c.674C>Gp.P225RmissenseTRDRett syndrome - not certainMutation associated with diseaseF
3139Philippe C, ...
Pubmed: 16473305
c.674C>Gp.P225RmissenseTRDRett syndrome - not certainMutation associated with diseaseF
3451Bienvenu T, ...
Pubmed: 12180070
c.674C>Gp.P225RmissenseTRDRett syndrome - not certainMutation associated with diseaseF
3558Li, ...
Pubmed: 17089071
c.674C>Gp.P225RmissenseTRDRett syndrome - not certainMutation associated with diseaseF
4746Hadzsiev, ...
Pubmed: 21160487
c.674C>Gp.P225RmissenseTRDRett syndrome - not certainMutation associated with diseaseF
4812Corbani, ...
Pubmed: 21954873
c.674C>Gp.P225RmissenseTRDRett syndrome - classicalMutation associated with diseaseF
6739Daniela Zahorakova, ...
Pubmed: 26984561
c.674C>Gp.P225RmissenseTRDNot knownMutation associated with diseaseF
6585Directly submitted
c.674C>Gp.P225RmissenseTRDRett syndrome - classicalMutation associated with diseaseF
3263Philippe C, ...
Pubmed: 16473305
c.676_677insAp.F226fsframeshift insertion or deletionTRDRett syndrome - not certainMutation associated with diseaseF
3264Philippe C, ...
Pubmed: 16473305
c.676_677insAp.F226fsframeshift insertion or deletionTRDRett syndrome - not certainMutation associated with diseaseF
944Bienvenu, ...
Pubmed: 10814719
c.677_678insAp.F226fsFrameshift insertion or deletionTRDRett syndrome - ClassicalMutation associated with diseaseF
2660Lesca, ...
Pubmed: 17383248
c.679C>Gp.Q227EmissenseTRDNot Rett synd. - sporadic mental retardationUnknownF
6584Directly submitted
c.679C>Tp.Q227XnonsenseTRDRett syndrome - classicalMutation associated with diseaseF
1632Bunyan, ...
c.683C>Gp.T228SMissenseTRDRett syndrome - Not certainPolymorphism not causing diseaseF
2752Campos, ...
Pubmed: 17084570
c.683C>Gp.T228SmissenseTRDNot Rett synd. - mental retardationPolymorphism not causing diseaseM
3032Yntema HG, ...
Pubmed: 12111644
c.683C>Gp.T228SmissenseTRDNot Rett synd. - mental retardationPolymorphism not causing diseaseM
4057Yntema HG, ...
Pubmed: 12111644
c.683C>Gp.T228SmissenseTRDNot Rett synd. - unaffected family memberPolymorphism not causing diseaseF
5190Maortua, ...
Pubmed: 23810759
c.683C>Gp.T228SmissenseTRDNot Rett synd. - normal controlPolymorphism not causing diseaseU
6857Daniela Zahorakova, ...
Pubmed: 26984561
c.683C>Gp.T228SMissenseTRDRett syndrome - classicalPolymorphism not causing diseaseF
6856Daniela Zahorakova, ...
Pubmed: 26984561
c.683C>Gp.T228SMissenseTRDNot Rett synd. - mental retardationPolymorphism not causing diseaseF
1011Cheadle, ...
Pubmed: 10767337
c.686C>Tp.S229LMissenseTRDRett syndrome - ClassicalPolymorphism not causing diseaseF
1222Cheadle, ...
Pubmed: 10767337
c.686C>Tp.S229LMissenseTRDNot Rett synd. - Unaffected family memberPolymorphism not causing diseaseM
2633Zahorakova, ...
Pubmed: 17387578
c.686C>Tp.S229LmissenseTRDRett syndrome - ClassicalPolymorphism not causing diseaseF
3025Yntema HG, ...
Pubmed: 12111644
c.686C>Tp.S229LmissenseTRDNot Rett synd. - mental retardationPolymorphism not causing diseaseM
4475Das, ...
c.686C>Ap.S229XnonsenseTRDNot knownMutation associated with diseaseF
4476Das, ...
c.686C>Tp.S229LmissenseTRDNot knownPolymorphism not causing diseaseF
4477Das, ...
c.686C>Tp.S229LmissenseTRDNot knownPolymorphism not causing diseaseM
4478Das, ...
c.689_756del68p.P230fsframeshift insertion or deletionTRDNot knownMutation associated with diseaseF
2128Cardiff, ...
c.690A>Cp.P230PSilentTRDNot knownSilent polymorphismF
2129Cardiff, ...
c.690A>Cp.P230PSilentTRDNot Rett synd. - Unaffected family memberSilent polymorphismM
186Obata, ...
Pubmed: 10991688
c.695delGp.G232fsFrameshift insertion or deletionTRDRett syndrome - ClassicalMutation associated with diseaseF
1952Schanen, ...
Pubmed: 15057977
c.695delGp.G232fsFrameshift insertion or deletionTRDRett syndrome - atypicalMutation associated with diseaseF
2092Cardiff, ...
c.695delGp.G232fsFrameshift insertion or deletionTRDRett syndrome - ClassicalMutation associated with diseaseF
3409Yamashita Y, ...
Pubmed: 11738864
c.695delGp.G232fsframeshift insertion or deletionTRDRett syndrome - classicalMutation associated with diseaseF
3755Fukuda, ...
Pubmed: 15737703
c.695delGp.G232fsframeshift insertion or deletionTRDRett syndrome - classicalMutation associated with diseaseF
3958Fukuda, ...
Pubmed: 15737703
c.695G>Cp.G232AmissenseTRDRett syndrome - NKPolymorphism not causing diseaseF
3959Fukuda, ...
Pubmed: 15737703
c.695G>Cp.G232AmissenseTRDNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
3960Fukuda, ...
Pubmed: 15737703
c.695G>Cp.G232AmissenseTRDNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
3961Fukuda, ...
Pubmed: 15737703
c.695G>Cp.G232AmissenseTRDNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
3962Fukuda, ...
Pubmed: 15737703
c.695G>Cp.G232AmissenseTRDNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
3963Fukuda, ...
Pubmed: 15737703
c.695G>Cp.G232AmissenseTRDNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
3964Fukuda, ...
Pubmed: 15737703
c.695G>Cp.G232AmissenseTRDNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
3965Fukuda, ...
Pubmed: 15737703
c.695G>Cp.G232AmissenseTRDNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
3966Fukuda, ...
Pubmed: 15737703
c.695G>Cp.G232AmissenseTRDNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
3967Fukuda, ...
Pubmed: 15737703
c.695G>Cp.G232AmissenseTRDNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
3968Fukuda, ...
Pubmed: 15737703
c.695G>Cp.G232AmissenseTRDNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
3969Fukuda, ...
Pubmed: 15737703
c.695G>Cp.G232AmissenseTRDNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
3970Fukuda, ...
Pubmed: 15737703
c.695G>Cp.G232AmissenseTRDNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
3971Fukuda, ...
Pubmed: 15737703
c.695G>Cp.G232AmissenseTRDNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
3972Fukuda, ...
Pubmed: 15737703
c.695G>Cp.G232AmissenseTRDNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
3973Fukuda, ...
Pubmed: 15737703
c.695G>Cp.G232AmissenseTRDNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
3974Fukuda, ...
Pubmed: 15737703
c.695G>Cp.G232AmissenseTRDNot Rett synd. - non-Rett syndrome controlPolymorphism not causing diseaseU
4317Raizis, ...
Pubmed: 19652677
c.695dupGp.K233fsframeshift insertion or deletionTRDRett syndrome - not certainMutation associated with diseaseF
6635Directly submitted
c.695dupGp.K233fsframeshift insertion or deletionTRDRett syndrome - classicalMutation associated with diseaseF
7009Rania Ghorbel , ...
Pubmed: 29421650
[c.695 G > T; c.880C > T] missense,nonsenseTRDRett syndromeMutation associated with diseaseF
187Obata, ...
Pubmed: 10991688
c.696delCp.K233fsFrameshift insertion or deletionTRDRett syndrome - ClassicalMutation associated with diseaseF
1423Nicolao, ...
Pubmed: 11462237
c.696delCp.K233fsFrameshift insertion or deletionTRDRett syndrome - ClassicalMutation associated with diseaseF
3265Philippe C, ...
Pubmed: 16473305
c.696delCp.K233fsframeshift insertion or deletionTRDRett syndrome - not certainMutation associated with diseaseF
3756Fukuda, ...
Pubmed: 15737703
c.696delCp.K233fsframeshift insertion or deletionTRDRett syndrome - classicalMutation associated with diseaseF
4376Monnerat, ...
Pubmed: 20031356
c.696delCp.K233fsframeshift insertion or deletionTRDRett syndrome - ClassicalMutation associated with diseaseF
32Hoffbuhr, ...
Pubmed: 11402105
c.710dupGp.G238fsFrameshift insertion or deletionTRDRett syndrome - Not certainMutation associated with diseaseF
386Directly submitted
c.710dupGp.G238fsFrameshift insertion or deletionTRDRett syndrome - ClassicalMutation associated with diseaseF
1110Buyse, ...
Pubmed: 11055898
c.710delGp.G237fsFrameshift insertion or deletionTRDRett syndrome - Not certainMutation associated with diseaseF
1358Laccone, ...
Pubmed: 11241840
c.710delGp.G237fsFrameshift insertion or deletionTRDRett syndrome - Not certainMutation associated with diseaseU
1359Laccone, ...
Pubmed: 11241840
c.710delGp.G237fsFrameshift insertion or deletionTRDRett syndrome - Not certainMutation associated with diseaseU
1360Laccone, ...
Pubmed: 11241840
c.710delGp.G237fsFrameshift insertion or deletionTRDRett syndrome - Not certainMutation associated with diseaseU
1424Nicolao, ...
Pubmed: 11462237
c.710dupGp.G238fsFrameshift insertion or deletionTRDRett syndrome - ClassicalMutation associated with diseaseF
1598Bunyan, ...
c.710delGp.G237fsFrameshift insertion or deletionTRDRett syndrome - Not certainMutation associated with diseaseF
1734Friez, ...
c.710delGp.G237fsFrameshift insertion or deletionTRDNot knownMutation associated with diseaseF
1795Friez, ...
c.710dupGp.G238fsFrameshift insertion or deletionTRDNot knownMutation associated with diseaseF
1871Bunyan, ...
c.710delGp.G237fsFrameshift insertion or deletionTRDRett syndrome - Not certainMutation associated with diseaseF
2093Cardiff, ...
c.710delGp.G237fsFrameshift insertion or deletionTRDRett syndrome - ClassicalMutation associated with diseaseF
2896Djarmati, ...
Pubmed: 17986102
c.710dupGp.G238fsframeshift insertion or deletionTRDRett syndrome - classicalMutation associated with diseaseF
3597Li, ...
Pubmed: 17089071
c.710delGp.G237fsframeshift insertion or deletionTRDRett syndrome - not certainMutation associated with diseaseF
4070Lee SSJ, ...
Pubmed: 11738860
c.710delGp.G237fsframeshift insertion or deletionTRDRett syndrome - not certainMutation associated with diseaseF
4182Fleilinger, ...
Pubmed: 19724012
c.710delGp.G237fsframeshift insertion or deletionTRDRett syndrome - classicalMutation associated with diseaseF
4706Hadzsiev, ...
Pubmed: 21160487
c.710delGp.G237fsframeshift insertion or deletionTRDRett syndrome - not certainMutation associated with diseaseF
5066Das, ...
Pubmed: 23262346
c.710dupGp.G238fsframeshift insertion or deletionTRDRett syndrome - not certainMutation associated with diseaseF
6633Directly submitted
c.710dupGp.G238fsframeshift insertion or deletionTRDRett syndrome - classicalMutation associated with diseaseF
6632Directly submitted
c.710delGp.G237fsframeshift insertion or deletionTRDRett syndrome - classicalMutation associated with diseaseF
3266Philippe C, ...
Pubmed: 16473305
c.711_1269del559p.G238fsframeshift insertion or deletionTRDRett syndrome - not certainMutation associated with diseaseF
1787Friez, ...
c.715delGp.A239fsFrameshift insertion or deletionTRDNot knownMutation associated with diseaseF
7027Huong Le Thi Thanh , ...
Pubmed: 30081849
c.717del C frameshift insertion or deletionTRDRett syndrome - classicalMutation associated with diseaseF
285Trappe, ...
Pubmed: 11309679
c.720dupCp.T241fsFrameshift insertion or deletionTRDRett syndrome - Not certainMutation associated with diseaseF
2132Cardiff, ...
c.720C>Tp.T240TSilentTRDNot knownSilent polymorphismF
2133Cardiff, ...
c.720C>Tp.T240TSilentTRDNot Rett synd. - Unaffected family memberSilent polymorphismM
2395Michele Zappella, ...
Pubmed: 12707946
c.720C>Gp.T240TSilentTRDNot Rett synd. - autism onlySilent polymorphismF
2396Michele Zappella, ...
Pubmed: 12707946
c.720C>Gp.T240TSilentTRDNot Rett synd. - Unaffected family memberSilent polymorphismF
31Hoffbuhr, ...
Pubmed: 11402105
c.730C>Tp.Q244XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
2192Cardiff, ...
c.730C>Tp.Q244XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2193Cardiff, ...
c.730C>Tp.Q244XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
6583Directly submitted
c.730C>Tp.Q244XnonsenseTRDRett syndrome - classicalMutation associated with diseaseF
255Bourdon, ...
Pubmed: 11214906
c.731_1166del436p.Q244fsFrameshift insertion or deletionTRDRett syndrome - Not certainMutation associated with diseaseU
2887Djarmati, ...
Pubmed: 17986102
c.734_759del26p.V245fsframeshift insertion or deletionTRDRett syndrome - classicalMutation associated with diseaseF
1425Nicolao, ...
Pubmed: 11462237
c.736_737insATp.M246fsFrameshift insertion or deletionTRDRett syndrome - ClassicalMutation associated with diseaseF
4479Das, ...
c.736_743delinsGTGp.M246fsframeshift combined insertion and deletionTRDNot knownMutation associated with diseaseF
1930Schanen, ...
Pubmed: 15057977
c.739delGp.V247fsFrameshift insertion or deletionTRDRett syndrome - classicalMutation associated with diseaseF
256Bourdon, ...
Pubmed: 11214906
c.747_751dup5p.P251fsFrameshift insertion or deletionTRDRett syndrome - Not certainMutation associated with diseaseU
33Hoffbuhr, ...
Pubmed: 11402105
c.748dupCp.R250fsFrameshift insertion or deletionTRDRett syndrome - Not certainMutation associated with diseaseF
1866Bunyan, ...
c.748dupCp.R250fsFrameshift insertion or deletionTRDRett syndrome - Not certainMutation associated with diseaseF
1872Bunyan, ...
c.748_753del6insGGCCGp.R250fsFrameshift combined insertion and deletionTRDRett syndrome - Not certainMutation associated with diseaseF
3267Philippe C, ...
Pubmed: 16473305
c.748_749insTp.R250fsframeshift insertion or deletionTRDRett syndrome - not certainMutation associated with diseaseF
1852Bunyan, ...
c.749G>Ap.R250HMissenseTRDRett syndrome - Not certainPolymorphism not causing diseaseF
1853Bunyan, ...
c.749G>Ap.R250HMissenseTRDNot Rett synd. - Unaffected family memberPolymorphism not causing diseaseM
1238Erlandson, ...
Pubmed: 11469283
c.750C>Tp.R250RSilentTRDNot Rett synd. - Unaffected family memberSilent polymorphismF
1380Lam, ...
Pubmed: 11106359
c.750_750delCinsTCAGGAAGCTTp.P251fsFrameshift combined insertion and deletionTRDRett syndrome - Not certainMutation associated with diseaseF
1633Bunyan, ...
c.750C>Tp.R250RSilentTRDRett syndrome - Not certainSilent polymorphismF
5191Maortua, ...
Pubmed: 23810759
c.750C>Tp.R250RsilentTRDNot Rett synd. - normal controlSilent polymorphismU
149Amano, ...
Pubmed: 10944854
c.752C>Tp.P251LMissenseTRDNot Rett synd. - Unaffected family memberPolymorphism not causing diseaseM
1112Buyse, ...
Pubmed: 11055898
c.752_753dupCCp.G252fsFrameshift insertion or deletionTRDRett syndrome - Not certainMutation associated with diseaseF
2047Directly submitted
c.752_753dupCCp.G252fsframeshift insertion or deletionTRDNot knownMutation associated with diseaseM
4480Das, ...
c.752_753dupCCp.G252fsframeshift insertion or deletionTRDNot knownMutation associated with diseaseF
6903Directly submitted
c.752C>Gp.Pro251ArgmissenseTRDNot knownUnknownF
369Directly submitted
c.753dupCp.G252fsFrameshift insertion or deletionTRDRett syndrome - Not certainMutation associated with diseaseF
1111Buyse, ...
Pubmed: 11055898
c.753delCp.G252fsFrameshift insertion or deletionTRDRett syndrome - Not certainMutation associated with diseaseF
1199Ben Zeev, ...
Pubmed: 11913564
c.753dupCp.G252fsFrameshift insertion or deletionTRDNot Rett synd. - Progressive encephalopathy of neonatal onsetMutation associated with diseaseM
1200Ben Zeev, ...
Pubmed: 11913564
c.753dupCp.G252fsFrameshift insertion or deletionTRDRett syndrome - ClassicalMutation associated with diseaseF
1252Huppke, ...
Pubmed: 12075485
c.753delCp.G252fsFrameshift insertion or deletionTRDRett syndrome - Not certainMutation associated with diseaseF
1560Directly submitted
c.753delCp.G252fsFrameshift insertion or deletionTRDRett syndrome - classicalMutation associated with diseaseF
1668Friez, ...
c.753delCp.G252fsFrameshift insertion or deletionTRDNot knownMutation associated with diseaseF
1815Friez, ...
c.753delCp.G252fsFrameshift insertion or deletionTRDNot knownMutation associated with diseaseF
2094Cardiff, ...
c.753delCp.G252fsFrameshift insertion or deletionTRDRett syndrome - ClassicalMutation associated with diseaseF
2598Zahorakova, ...
Pubmed: 17387578
c.753dupCp.G252fsframeshift insertion or deletionTRDRett syndrome - ClassicalMutation associated with diseaseF
2994Chae, ...
Pubmed: 15526954
c.753C>Tp.P251PsilentTRDRett syndrome - classicalSilent polymorphismF
4753Hadzsiev, ...
Pubmed: 21160487
c.753C>Tp.P251PsilentTRDRett syndrome - not certainSilent polymorphismF
4754Hadzsiev, ...
Pubmed: 21160487
c.753C>Tp.P251PsilentTRDRett syndrome - not certainSilent polymorphismF
6667Directly submitted
c.753_754dupp.G252fsframeshift insertion or deletionTRDRett syndrome - classicalMutation associated with diseaseF
1951Schanen, ...
Pubmed: 15057977
c.755delGp.G252fsFrameshift insertion or deletionTRDRett syndrome - atypicalMutation associated with diseaseF
4103Milunsky, ...
Pubmed: 11960578
c.755dupGp.R253fsframeshift insertion or deletionTRDRett syndrome - classicalMutation associated with diseaseF
4104Milunsky, ...
Pubmed: 11960578
c.755dupGp.R253fsframeshift insertion or deletionTRDRett syndrome - male variantMutation associated with diseaseM
188Obata, ...
Pubmed: 10991688
c.756_759delCAGGp.R253fsFrameshift insertion or deletionTRDRett syndrome - ClassicalMutation associated with diseaseF
2888Djarmati, ...
Pubmed: 17986102
c.756_763dupp.R255fsframeshift insertion or deletionTRDRett syndrome - classicalMutation associated with diseaseF
3757Fukuda, ...
Pubmed: 15737703
c.756_759delCAGGp.R253fsframeshift insertion or deletionTRDRett syndrome - classicalMutation associated with diseaseF
1790Friez, ...
c.760A>Tp.K254XNonsenseTRDNot knownMutation associated with diseaseF
27Bunyan, ...
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
86Hoffbuhr, ...
Pubmed: 11402105
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
87Hoffbuhr, ...
Pubmed: 11402105
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
88Hoffbuhr, ...
Pubmed: 11402105
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
89Hoffbuhr, ...
Pubmed: 11402105
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
90Hoffbuhr, ...
Pubmed: 11402105
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
91Hoffbuhr, ...
Pubmed: 11402105
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
92Hoffbuhr, ...
Pubmed: 11402105
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
113Huppke, ...
Pubmed: 10814718
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
114Huppke, ...
Pubmed: 10814718
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
115Huppke, ...
Pubmed: 10814718
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
198Hampson, ...
Pubmed: 10991689
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
199Hampson, ...
Pubmed: 10991689
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
200Hampson, ...
Pubmed: 10991689
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
214Orrico, ...
Pubmed: 11007980
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
215Orrico, ...
Pubmed: 11007980
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
216Orrico, ...
Pubmed: 11007980
c.763C>Tp.R255XNonsenseTRDRett syndrome - AtypicalMutation associated with diseaseF
240Bourdon, ...
Pubmed: 11214906
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseU
241Bourdon, ...
Pubmed: 11214906
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseU
242Bourdon, ...
Pubmed: 11214906
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseU
243Bourdon, ...
Pubmed: 11214906
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseU
244Bourdon, ...
Pubmed: 11214906
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseU
245Bourdon, ...
Pubmed: 11214906
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseU
277Trappe, ...
Pubmed: 11309679
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
278Trappe, ...
Pubmed: 11309679
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
303Auranen, ...
Pubmed: 11245712
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
304Auranen, ...
Pubmed: 11245712
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
305Auranen, ...
Pubmed: 11245712
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
306Auranen, ...
Pubmed: 11245712
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
307Auranen, ...
Pubmed: 11245712
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
336De Bona, ...
Pubmed: 10854091
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
337De Bona, ...
Pubmed: 10854091
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
356Directly submitted
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
357Directly submitted
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
421Directly submitted
c.763C>Tp.R255XNonsenseTRDRett syndrome - AtypicalMutation associated with diseaseF
427Ellaway, ...
Pubmed: 11446411
c.763C>Tp.R255XNonsenseTRDRett syndrome - AtypicalMutation associated with diseaseF
462Directly submitted
c.763C>Tp.R255XNonsenseTRDRett syndrome - AtypicalMutation associated with diseaseF
477Directly submitted
c.763C>Tp.R255XNonsenseTRDNot knownMutation associated with diseaseF
480Directly submitted
c.763C>Tp.R255XNonsenseTRDRett syndrome - AtypicalMutation associated with diseaseF
481Directly submitted
c.763C>Tp.R255XNonsenseTRDNot knownMutation associated with diseaseF
948Bienvenu, ...
Pubmed: 10814719
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
935Bienvenu, ...
Pubmed: 10814719
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
898Directly submitted
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseU
899Directly submitted
c.763C>Tp.R255XNonsenseTRDRett syndromeMutation associated with diseaseU
896Directly submitted
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseU
897Directly submitted
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseU
895Directly submitted
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseU
871Xiang, ...
Pubmed: 10745042
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseU
870Xiang, ...
Pubmed: 10745042
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseU
869Xiang, ...
Pubmed: 10745042
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseU
842Amir, ...
Pubmed: 10508514
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseU
1080Buyse, ...
Pubmed: 11055898
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
1081Buyse, ...
Pubmed: 11055898
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
1082Buyse, ...
Pubmed: 11055898
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
1083Buyse, ...
Pubmed: 11055898
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
1084Buyse, ...
Pubmed: 11055898
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
1085Buyse, ...
Pubmed: 11055898
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
1086Buyse, ...
Pubmed: 11055898
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
1087Buyse, ...
Pubmed: 11055898
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
1088Buyse, ...
Pubmed: 11055898
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
1089Buyse, ...
Pubmed: 11055898
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
1090Buyse, ...
Pubmed: 11055898
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
1091Buyse, ...
Pubmed: 11055898
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
1146Imessaoudene, ...
Pubmed: 11238684
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
1147Imessaoudene, ...
Pubmed: 11238684
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
1169Girard, ...
Pubmed: 11313764
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
1198Armstrong, ...
Pubmed: 12065946
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
1207Chae, ...
Pubmed: 11913567
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
1213Chae, ...
Pubmed: 11913567
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
1220Chae, ...
Pubmed: 11913567
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
1322Laccone, ...
Pubmed: 11241840
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseU
1323Laccone, ...
Pubmed: 11241840
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseU
1324Laccone, ...
Pubmed: 11241840
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseU
1325Laccone, ...
Pubmed: 11241840
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseU
1326Laccone, ...
Pubmed: 11241840
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseU
1327Laccone, ...
Pubmed: 11241840
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseU
1328Laccone, ...
Pubmed: 11241840
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseU
1329Laccone, ...
Pubmed: 11241840
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseU
1330Laccone, ...
Pubmed: 11241840
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseU
1331Laccone, ...
Pubmed: 11241840
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseU
1408Nicolao, ...
Pubmed: 11462237
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
1409Nicolao, ...
Pubmed: 11462237
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
1450Vacca, ...
Pubmed: 11269512
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
1451Vacca, ...
Pubmed: 11269512
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
1469Vacca, ...
Pubmed: 11269512
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
1470Vacca, ...
Pubmed: 11269512
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
1471Vacca, ...
Pubmed: 11269512
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
1472Vacca, ...
Pubmed: 11269512
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
1473Vacca, ...
Pubmed: 11269512
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
1494Wan, ...
Pubmed: 10577905
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseU
1510Yamada, ...
Pubmed: 11524741
c.763C>Tp.R255XNonsenseTRDRett syndrome - classicalMutation associated with diseaseU
1511Yamada, ...
Pubmed: 11524741
c.763C>Tp.R255XNonsenseTRDRett syndrome - atypicalMutation associated with diseaseU
1512Yamada, ...
Pubmed: 11524741
c.763C>Tp.R255XNonsenseTRDRett syndrome - atypicalMutation associated with diseaseU
1513Yamada, ...
Pubmed: 11524741
c.763C>Tp.R255XNonsenseTRDRett syndrome - atypicalMutation associated with diseaseU
1514Yamada, ...
Pubmed: 11524741
c.763C>Tp.R255XNonsenseTRDRett syndrome - atypicalMutation associated with diseaseU
1591Bunyan, ...
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
1602Bunyan, ...
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
1605Bunyan, ...
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
1608Bunyan, ...
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
1623Bunyan, ...
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
1730Friez, ...
c.763C>Tp.R255XNonsenseTRDNot knownMutation associated with diseaseF
1733Friez, ...
c.763C>Tp.R255XNonsenseTRDNot knownMutation associated with diseaseF
1739Friez, ...
c.763C>Tp.R255XNonsenseTRDNot knownMutation associated with diseaseF
1747Friez, ...
c.763C>Tp.R255XNonsenseTRDNot knownMutation associated with diseaseF
1750Friez, ...
c.763C>Tp.R255XNonsenseTRDNot knownMutation associated with diseaseF
1753Friez, ...
c.763C>Tp.R255XNonsenseTRDNot knownMutation associated with diseaseF
1759Friez, ...
c.763C>Tp.R255XNonsenseTRDNot knownMutation associated with diseaseF
1769Friez, ...
c.763C>Tp.R255XNonsenseTRDNot knownMutation associated with diseaseF
1786Friez, ...
c.763C>Tp.R255XNonsenseTRDNot knownMutation associated with diseaseF
1797Friez, ...
c.763C>Tp.R255XNonsenseTRDNot knownMutation associated with diseaseF
1803Friez, ...
c.763C>Tp.R255XNonsenseTRDNot knownMutation associated with diseaseF
1804Friez, ...
c.763C>Tp.R255XNonsenseTRDNot knownMutation associated with diseaseF
1854Bunyan, ...
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
1892Directly submitted
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
1893Directly submitted
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
1920Schanen, ...
Pubmed: 15057977
c.763C>Tp.R255XNonsenseTRDRett syndrome - atypicalMutation associated with diseaseF
1921Schanen, ...
Pubmed: 15057977
c.763C>Tp.R255XNonsenseTRDRett syndrome - atypicalMutation associated with diseaseF
1922Schanen, ...
Pubmed: 15057977
c.763C>Tp.R255XNonsenseTRDRett syndrome - classicalMutation associated with diseaseF
1936Schanen, ...
Pubmed: 15057977
c.763C>Tp.R255XNonsenseTRDRett syndrome - atypicalMutation associated with diseaseF
1938Schanen, ...
Pubmed: 15057977
c.763C>Tp.R255XNonsenseTRDRett syndrome - classicalMutation associated with diseaseF
1944Schanen, ...
Pubmed: 15057977
c.763C>Tp.R255XNonsenseTRDRett syndrome - classicalMutation associated with diseaseF
1962Schanen, ...
Pubmed: 15057977
c.763C>Tp.R255XNonsenseTRDRett syndrome - classicalMutation associated with diseaseF
1963Schanen, ...
Pubmed: 15057977
c.763C>Tp.R255XNonsenseTRDRett syndrome - classicalMutation associated with diseaseF
2018Directly submitted
c.763C>Tp.R255XNonsenseTRDNot knownMutation associated with diseaseF
2020Directly submitted
c.763C>Tp.R255XNonsenseTRDNot knownMutation associated with diseaseF
2031Directly submitted
c.763C>Tp.R255XNonsenseTRDNot knownMutation associated with diseaseF
2034Directly submitted
c.763C>Tp.R255XNonsenseTRDNot knownMutation associated with diseaseF
2042Directly submitted
c.763C>Tp.R255XNonsenseTRDNot knownMutation associated with diseaseF
2263Cardiff, ...
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
2264Cardiff, ...
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2265Cardiff, ...
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
2266Cardiff, ...
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
2267Cardiff, ...
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2268Cardiff, ...
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2269Cardiff, ...
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2270Cardiff, ...
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2271Cardiff, ...
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2272Cardiff, ...
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2273Cardiff, ...
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
2274Cardiff, ...
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2275Cardiff, ...
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2276Cardiff, ...
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
2277Cardiff, ...
c.763C>Tp.R255XNonsenseTRDRett syndrome - Not certainMutation associated with diseaseF
2278Cardiff, ...
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2279Cardiff, ...
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2280Cardiff, ...
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2281Cardiff, ...
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2282Cardiff, ...
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2283Cardiff, ...
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2284Cardiff, ...
c.763C>Tp.R255XNonsenseTRDRett syndrome - AtypicalMutation associated with diseaseF
2285Cardiff, ...
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2286Cardiff, ...
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2398Monros, ...
Pubmed: 11738885
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2402Monros, ...
Pubmed: 11738885
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2412Monros, ...
Pubmed: 11738885
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2418Monros, ...
Pubmed: 11738885
c.763C>Tp.R255XNonsenseTRDRett syndrome - Congenital onsetMutation associated with diseaseF
2426Monros, ...
Pubmed: 11738885
c.763C>Tp.R255XNonsenseTRDRett syndrome - Congenital onsetMutation associated with diseaseF
2431Monros, ...
Pubmed: 11738885
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2433Monros, ...
Pubmed: 11738885
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2434Monros, ...
Pubmed: 11738885
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2446Monros, ...
Pubmed: 11738885
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2459Directly submitted
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2465Directly submitted
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2473Directly submitted
c.763C>Tp.R255XNonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2477Directly submitted
c.763C>Tp.R255XNonsenseTRDRett syndrome - Forme frusteMutation associated with diseaseF
2599Zahorakova, ...
Pubmed: 17387578
c.763C>Tp.R255XnonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2600Zahorakova, ...
Pubmed: 17387578
c.763C>Tp.R255XnonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2601Zahorakova, ...
Pubmed: 17387578
c.763C>Tp.R255XnonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2602Zahorakova, ...
Pubmed: 17387578
c.763C>Tp.R255XnonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2603Zahorakova, ...
Pubmed: 17387578
c.763C>Tp.R255XnonsenseTRDRett syndrome - ClassicalMutation associated with diseaseF
2769Donzel-Javouhey, ...
Pubmed: 16763963
c.763C>Tp.R255XnonsenseTRDRett syndrome - not certainMutation associated with diseaseF
2821Kim, ...
Pubmed: 16672765
c.763C>Tp.R255XnonsenseTRDRett syndrome - classicalMutation associated with diseaseF
2822Kim, ...
Pubmed: 16672765
c.763C>Tp.R255XnonsenseTRDRett syndrome - classicalMutation associated with diseaseF
2860Conforti, ...
Pubmed: 12567420
c.763C>Tp.R255XnonsenseTRDRett syndrome - classicalMutation associated with diseaseF
2879Smeets, ...
Pubmed: 12966523
c.763C>Tp.R255XnonsenseTRDRett syndrome - classicalMutation associated with diseaseF
2897Djarmati, ...
Pubmed: 17986102
c.763C>Tp.R255XnonsenseTRDRett syndrome - classicalMutation associated with diseaseF
2898Djarmati, ...
Pubmed: 17986102
c.763C>Tp.R255XnonsenseTRDRett syndrome - classicalMutation associated with diseaseF
2899Djarmati, ...
Pubmed: 17986102
c.763C>Tp.R255XnonsenseTRDRett syndrome - classicalMutation associated with diseaseF
2940Kammoun, ...
Pubmed: 15173251
c.763C>Tp.R255XnonsenseTRDRett syndrome - classicalMutation associated with diseaseF
2965Kammoun, ...
Pubmed: 15173251
c.763C>Tp.R255XnonsenseTRDRett syndrome - atypicalMutation associated with diseaseF
2966Kammoun, ...
Pubmed: 15173251
c.763C>Tp.R255XnonsenseTRDRett syndrome - atypicalMutation associated with diseaseF
2967Kammoun, ...
Pubmed: 15173251
c.763C>Tp.R255XnonsenseTRDRett syndrome - atypicalMutation associated with diseaseF
2981Chae, ...
Pubmed: 15526954
c.763C>Tp.R255XnonsenseTRDRett syndrome - classicalMutation associated with diseaseF
2982Chae, ...
Pubmed: 15526954
c.763C>Tp.R255XnonsenseTRDRett syndrome - classicalMutation associated with diseaseF
3005Pan, ...
Pubmed: 12111643
c.763C>Tp.R255XnonsenseTRDRett syndrome - classicalMutation associated with diseaseF
3041Yaron Y, ...
Pubmed: 12325033
c.763C>Tp.R255XnonsenseTRDRett syndrome - classicalMutation associated with diseaseF
3042Yaron Y, ...
Pubmed: 12325033
c.763C>Tp.R255XnonsenseTRDRett syndrome - classicalMutation associated with diseaseF
3061Giunti L, ...
Pubmed: 11738883
c.763C>Tp.R255XnonsenseTRDRett syndrome - not certainMutation associated with diseaseF
3201Philippe C, ...
Pubmed: 16473305
c.763C>Tp.R255XnonsenseTRDRett syndrome - not certainMutation associated with diseaseF
3202Philippe C, ...
Pubmed: 16473305
c.763C>Tp.R255XnonsenseTRDRett syndrome - not certainMutation associated with diseaseF
3203Philippe C, ...
Pubmed: 16473305
c.763C>Tp.R255XnonsenseTRDRett syndrome - not certainMutation associated with diseaseF
3204Philippe C, ...
Pubmed: 16473305
c.763C>Tp.R255XnonsenseTRDRett syndrome - not certainMutation associated with diseaseF
3205Philippe C, ...
Pubmed: 16473305
c.763C>Tp.R255XnonsenseTRDRett syndrome - not certainMutation associated with diseaseF
3206Philippe C, ...
Pubmed: 16473305
c.763C>Tp.R255XnonsenseTRDRett syndrome - not certainMutation associated with diseaseF
3207Philippe C, ...
Pubmed: 16473305
c.763C>Tp.R255XnonsenseTRDRett syndrome - not certainMutation associated with diseaseF
3208Philippe C, ...
Pubmed: 16473305
c.763C>Tp.R255XnonsenseTRDRett syndrome - not certainMutation associated with diseaseF
3209Philippe C, ...
Pubmed: 16473305
c.763C>Tp.R255XnonsenseTRDRett syndrome - not certainMutation associated with diseaseF
3210Philippe C, ...
Pubmed: 16473305
c.763C>Tp.R255XnonsenseTRDRett syndrome - not certainMutation associated with diseaseF
3211Philippe C, ...
Pubmed: 16473305
c.763C>Tp.R255XnonsenseTRDRett syndrome - not certainMutation associated with diseaseF
3212Philippe C, ...
Pubmed: 16473305
c.763C>Tp.R255XnonsenseTRDRett syndrome - not certainMutation associated with diseaseF
3213Philippe C, ...
Pubmed: 16473305
c.763C>Tp.R255XnonsenseTRDRett syndrome - not certainMutation associated with diseaseF
3214Philippe C, ...
Pubmed: 16473305
c.763C>Tp.R255XnonsenseTRDRett syndrome - not certainMutation associated with diseaseF
3215Philippe C, ...
Pubmed: 16473305
c.763C>Tp.R255XnonsenseTRDRett syndrome - not certainMutation associated with diseaseF
3216Philippe C, ...
Pubmed: 16473305
c.763C>Tp.R255XnonsenseTRDRett syndrome - not certainMutation associated with diseaseF
3370Nielsen JB, ...
Pubmed: 11313756
c.763C>Tp.R255XnonsenseTRDRett syndrome - classicalMutation associated with diseaseF
3371Nielsen JB, ...
Pubmed: 11313756
c.763C>Tp.R255XnonsenseTRDRett syndrome - classicalMutation associated with diseaseF
3372Nielsen JB, ...
Pubmed: 11313756
c.763C>Tp.R255XnonsenseTRDRett syndrome - classicalMutation associated with diseaseF
3373Nielsen JB, ...
Pubmed: 11313756
c.763C>Tp.R255XnonsenseTRDRett s