RettBASE: RettSyndrome.org Variation Database

• Home Page
• MECP2 database
  Search Mutations List of all variants Graph of mutations Summary of mutations Stats of mutations
• CDKL5 database
  Search variants List of all CDKL5 variants Search probands List of all CDKL5 probands Summary & chart of mutations
• FOXG1 database
  Search variants List of all FOXG1 variants Search probands List of all FOXG1 probands Summary & chart of mutations
• Useful information
  Reference sequence info General resources MECP2,CDKL5,FOXG1 gene information
• Submit mutations
  Contributors
• Contact us

MECP2 Proband List

Nucleotide change	Amino acid change	Type of sequence change	Domain change	Pathogenicity	Phenotype	Gender	Proband ID
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Not Known	Unknown	4453
c.1154_1185del32	p.Pro385fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Male variant	Male	38
c.*487G>C	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	48
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Male variant	Male	61
c.752C>T	p.Pro251Leu	Missense	TRD	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Male	149
c.1126C>T	p.Pro376Ser	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Male	152
c.419C>T	p.Ala140Val	Missense	MBD	Unknown	Not Rett synd.-X-linked mental retardation	Male	220
c.419C>T	p.Ala140Val	Missense	MBD	Unknown	Not Rett synd.-X-linked mental retardation	Male	221
c.419C>T	p.Ala140Val	Missense	MBD	Unknown	Not Rett synd.-X-linked mental retardation	Male	222
c.419C>T	p.Ala140Val	Missense	MBD	Unknown	Not Rett synd.-X-linked mental retardation	Male	223
c.590C>T	p.Thr197Met	Missense	Inter-domain region	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Male	373
c.1430G>C	p.Ser477Thr	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Male	394
c.1189G>A	p.Glu397Lys	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Male	399
c.582C>T	p.Ser194Ser	Silent	Inter-domain region	Silent polymorphism	Not Rett synd.-Unaffected family member	Male	432
c.*8C>T	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Male	445
c.582C>T	p.Ser194Ser	Silent	Inter-domain region	Silent polymorphism	Not Rett synd.-Unaffected family member	Male	849
c.1216C>T	p.Gln406*	Nonsense	C-term	Mutation associated with disease	Not Rett synd.-X-linked mental retardation	Male	838
c.1161_1400del240	p.Pro388_Pro467del	In-frame insertion or deletion	C-term	Unknown	Not Rett synd.-X-linked mental retardation	Male	836
c.1161_1400del240	p.Pro388_Pro467del	In-frame insertion or deletion	C-term	Unknown	Not Rett synd.-X-linked mental retardation	Male	834
c.1161_1400del240	p.Pro388_Pro467del	In-frame insertion or deletion	C-term	Unknown	Not Rett synd.-X-linked mental retardation	Male	833
c.410A>G	p.Glu137Gly	Missense	MBD	Mutation associated with disease	Not Rett synd.-X-linked mental retardation	Male	1012
c.499C>T	p.Arg167Trp	Missense	Inter-domain region	Mutation associated with disease	Not Rett synd.-X-linked mental retardation	Male	1013
c.419C>T	p.Ala140Val	Missense	MBD	Unknown	Not Rett synd.-X-linked mental retardation	Male	1014
c.419C>T	p.Ala140Val	Missense	MBD	Unknown	Not Rett synd.-X-linked mental retardation	Male	1015
c.1196C>T	p.Pro399Leu	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-X-linked mental retardation	Male	1016
c.1358G>A	p.Arg453Gln	Missense	C-term	Unknown	Not Rett synd.-X-linked mental retardation	Male	1017
c.850A>G	p.Lys284Glu	Missense	TRD	Unknown	Not Rett synd.-X-linked mental retardation	Male	1018
c.849C>G	p.Ala283Ala	Silent	TRD	Silent polymorphism	Not Rett synd.-X-linked mental retardation	Male	1019
c.897C>T	p.Thr299Thr	Silent	TRD	Silent polymorphism	Not Rett synd.-X-linked mental retardation	Male	1020
c.1035A>G	p.Lys345Lys	Silent	C-term	Silent polymorphism	Not Rett synd.-X-linked mental retardation	Male	1021
c.1160C>T	p.Pro387Leu	Missense	C-term	Unknown	Not Rett synd.-X-linked mental retardation	Male	1022
c.377+22C>G	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Rett synd.-X-linked mental retardation	Male	1023
c.167_168delCC	p.Pro56fs	Frameshift insertion or deletion	N-term	Mutation associated with disease	Not Known	Male	1024
c.1282G>A	p.Gly428Ser	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Non-progressive encephalopathy of neonatal onset	Male	1150
c.167_168delCC	p.Pro56fs	Frameshift insertion or deletion	N-term	Mutation associated with disease	Not Rett synd.-Angelman syndrome	Male	1155
c.[=/398G>A]	p.[=/Arg133His]	Missense	MBD	Unknown	Rett syndrome-Male variant	Male	1182
c.1282G>A	p.Gly428Ser	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Progressive encephalopathy of neonatal onset	Male	1529
c.753dupC	p.Gly252fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Not Rett synd.-Progressive encephalopathy of neonatal onset	Male	1199
c.686C>T	p.Ser229Leu	Missense	TRD	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Male	1222
c.488_489delGG	p.Gly163fs	Frameshift insertion or deletion	Inter-domain region	Mutation associated with disease	Not Rett synd.-Progressive encephalopathy of neonatal onset	Male	1239
c.419C>T	p.Ala140Val	Missense	MBD	Unknown	Not Rett synd.-X-linked mental retardation	Male	1266
c.419C>T	p.Ala140Val	Missense	MBD	Unknown	Not Rett synd.-X-linked mental retardation, manic-depressive illness	Male	1268
c.419C>T	p.Ala140Val	Missense	MBD	Unknown	Not Rett synd.-X-linked mental retardation, manic-depressive illness	Male	1269
c.419C>T	p.Ala140Val	Missense	MBD	Unknown	Not Rett synd.-X-linked mental retardation	Male	1270
c.419C>T	p.Ala140Val	Missense	MBD	Unknown	Not Rett synd.-X-linked mental retardation, manic-depressive illness	Male	1272
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Male	1387
c.1075T>C	p.Ser359Pro	Missense	C-term	Polymorphism not causing disease	Rett syndrome-Male variant	Male	1388
c.1075T>C	p.Ser359Pro	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Male	1393
c.1189G>A	p.Glu397Lys	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Sporadic mental retardation	Male	1394
c.[423C>G];[=]	p.[Tyr141*];[=]	Nonsense	MBD	Mutation associated with disease	Rett syndrome-Male variant	Male	1434
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Male variant	Male	1435
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Not Rett synd.-Progressive encephalopathy of neonatal onset	Male	1480
c.806delG	p.Gly269fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Not Rett synd.-Progressive encephalopathy of neonatal onset	Male	1496
c.1189G>A	p.Glu397Lys	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Male	1501
c.1282G>A	p.Gly428Ser	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Male	1531
c.1030C>T	p.Arg344Trp	Missense	C-term	Unknown	Rett syndrome-Not certain	Male	1532
c.590C>T	p.Thr197Met	Missense	Inter-domain region	Polymorphism not causing disease	Not Rett synd.-not certain	Male	1534
c.1196C>T	p.Pro399Leu	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Male	1537
c.1126C>T	p.Pro376Ser	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Male	1539
c.1216C>T	p.Gln406*	Nonsense	C-term	Mutation associated with disease	Not Rett synd.-X-linked mental retardation	Male	1543
c.608C>T	p.Thr203Met	Missense	Inter-domain region	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Male	1547
c.1330G>A	p.Ala444Thr	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Male	1548
c.1330G>A	p.Ala444Thr	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Male	1549
c.377+22C>G	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Rett synd.-autism only	Male	1562
c.377+95G>A	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Rett synd.-autism only	Male	1563
c.542C>T	p.Ala181Val	Missense	Inter-domain region	Unknown	Not Rett synd.-autism only	Male	1564
c.[984C>T; 1161_1163del]	p.[Leu328Leu; Pro391del]	Silent, in-frame insertion or deletion	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Male	1569
c.1126C>T	p.Pro376Ser	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-autism only	Male	1570
c.1315G>A	p.Ala439Thr	Missense	C-term	Unknown	Not Rett synd.-autism only	Male	1574
c.378-17delT	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Rett synd.-autism only	Male	1575
c.1197C>T	p.Pro399Pro	Silent	C-term	Silent polymorphism	Not Rett synd.-autism only	Male	1577
c.1205C>T	p.Pro402Leu	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-autism only	Male	1578
c.1205C>T	p.Pro402Leu	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Male	1580
c.377+22C>G	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Rett synd.-autism only	Male	1583
c.897C>T	p.Thr299Thr	Silent	TRD	Silent polymorphism	Not Rett synd.-Unaffected family member	Male	1588
c.527C>G	p.Pro176Arg	Missense	Inter-domain region	Polymorphism not causing disease	Rett syndrome-Not certain	Male	1613
c.582C>T	p.Ser194Ser	Silent	Inter-domain region	Silent polymorphism	Rett syndrome-Not certain	Male	1640
c.815C>T	p.Pro272Leu	Missense	TRD	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Male	1653
c.674C>T	p.Pro225Leu	Missense	TRD	Unknown	Rett syndrome-Male variant	Male	1659
c.401C>G	p.Ser134Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Male variant	Male	1673
c.210C>T	p.Ser70Ser	Silent	N-term	Silent polymorphism	Not Known	Male	1737
c.210C>T	p.Ser70Ser	Silent	N-term	Silent polymorphism	Not Known	Male	1771
c.168C>T	p.Pro56Pro	Silent	N-term	Silent polymorphism	Not Known	Male	1794
c.1035A>G	p.Lys345Lys	Silent	C-term	Silent polymorphism	Not Known	Male	1808
c.378-17delT	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Rett synd.-Not certain	Male	1817
c.378-17delT	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Rett synd.-Not certain	Male	1818
c.1233C>T	p.Ser411Ser	Silent	C-term	Silent polymorphism	Not Rett synd.-Not certain	Male	1819
c.608C>T	p.Thr203Met	Missense	Inter-domain region	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Male	1851
c.749G>A	p.Arg250His	Missense	TRD	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Male	1853
c.426C>T	p.Phe142Phe	Silent	MBD	Silent polymorphism	Not Rett synd.-Sporadic mental retardation	Male	1885
c.582C>T	p.Ser194Ser	Silent	Inter-domain region	Silent polymorphism	Not Rett synd.-Sporadic mental retardation	Male	1891
c.881G>C	p.Arg294Pro	Missense	TRD	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Male	1904
c.1126C>T	p.Pro376Ser	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Sporadic mental retardation	Male	1908
c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Male	1914
c.419C>T	p.Ala140Val	Missense	MBD	Unknown	Not Rett synd.-Developmental receptive language disorder, childhood-onset schizophrenia	Male	1966
c.-168-?_*?dup	p.Met1?	In-frame insertion or deletion	N-term	Unknown	Not Rett synd.-Sporadic mental retardation	Male	1971
c.602C>T	p.Ala201Val	Missense	Inter-domain region	Polymorphism not causing disease	Not Rett synd.-Sporadic mental retardation	Male	1973
c.1189G>A	p.Glu397Lys	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Sporadic mental retardation	Male	1974
c.377+22C>G	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Rett synd.-Sporadic mental retardation	Male	1975
c.378-17delT	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Rett synd.-Sporadic mental retardation	Male	1976
c.378-17delT	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Rett synd.-Sporadic mental retardation	Male	1977
c.*93G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Sporadic mental retardation	Male	1978
c.[378-61C>G; *93G>A]	intronic variation and 3'UTR variation	Intronic variation, 3'UTR variation	Intronic, 3'UTR	Unknown	Not Rett synd.-Sporadic mental retardation	Male	1979
c.806delG	p.Gly269fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Not Rett synd.-Progressive encephalopathy of neonatal onset	Male	1981
c.-168-?_*?dup	p.Met1?	In-frame insertion or deletion	N-term	Unknown	Not Rett synd.-X-linked mental retardation	Male	1982
c.-168-?_*?dup	p.Met1?	In-frame insertion or deletion	N-term	Unknown	Not Rett synd.-X-linked mental retardation	Male	1983
c.-168-?_*?dup	p.Met1?	In-frame insertion or deletion	N-term	Unknown	Not Rett synd.-Sporadic mental retardation	Male	1984
c.-168-?_*?dup	p.Met1?	In-frame insertion or deletion	N-term	Unknown	Not Rett synd.-X-linked mental retardation	Male	1987
c.-168-?_*?dup	p.Met1?	In-frame insertion or deletion	N-term	Unknown	Not Rett synd.-X-linked mental retardation	Male	1988
c.-168-?_*?dup	p.Met1?	In-frame insertion or deletion	N-term	Unknown	Not Rett synd.-X-linked mental retardation	Male	1992
c.-168-?_*?dup	p.Met1?	In-frame insertion or deletion	N-term	Unknown	Not Rett synd.-X-linked mental retardation	Male	1993
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Male	1997
c.1061G>T	p.Arg354Leu	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Male	2003
c.-116_-114dupAGG	p.(=)	In-frame insertion or deletion	N-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Male	2006
c.1189G>A	p.Glu397Lys	Missense	C-term	Polymorphism not causing disease	Not Known	Male	2009
c.1233C>T	p.Ser411Ser	Silent	C-term	Silent polymorphism	Not Known	Male	2030
c.752_753dupCC	p.Gly252fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Not Known	Male	2047
c.806delG	p.Gly269fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Not Known	Male	2060
c.1239C>T	p.Cys413Cys	Silent	C-term	Silent polymorphism	Not Rett synd.-Unaffected family member	Male	2062
c.1168_1173del6	p.Pro390_Pro391del	In-frame insertion or deletion	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Male	2068
c.690A>C	p.Pro230Pro	Silent	TRD	Silent polymorphism	Not Rett synd.-Unaffected family member	Male	2129
c.720C>T	p.Thr240Thr	Silent	TRD	Silent polymorphism	Not Rett synd.-Unaffected family member	Male	2133
c.633G>C	p.Arg211Ser	Missense	TRD	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Male	2135
c.215C>T	p.Pro72Leu	Missense	N-term	Unknown	Not Known	Male	2139
c.168C>T	p.Pro56Pro	Silent	N-term	Silent polymorphism	Not Known	Male	2140
c.1404G>A	p.Arg468Arg	Silent	C-term	Silent polymorphism	Not Known	Male	2142
c.1372C>T	p.Arg458Cys	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Male	2144
c.1234G>A	p.Val412Ile	Missense	C-term	Polymorphism not causing disease	Not Known	Male	2147
c.1215C>T	p.Pro405Pro	Silent	C-term	Silent polymorphism	Not Rett synd.-Unaffected family member	Male	2151
c.1189G>A	p.Glu397Lys	Missense	C-term	Polymorphism not causing disease	Not Known	Male	2152
c.1126C>T	p.Pro376Ser	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-not certain	Male	2153
c.1081C>G	p.Pro361Ala	Missense	C-term	Unknown	Not Known	Male	2156
c.1035A>G	p.Lys345Lys	Silent	C-term	Silent polymorphism	Not Rett synd.-Unaffected family member	Male	2159
c.474G>A	p.Thr158Thr	Silent	MBD	Silent polymorphism	Not Rett synd.-Unaffected family member	Male	2161
c.1315G>A	p.Ala439Thr	Missense	C-term	Unknown	Not Rett synd.-ADHD	Male	2165
c.1315G>A	p.Ala439Thr	Missense	C-term	Unknown	Not Rett synd.-Non Rett syndrome control	Male	2166
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Male	2220
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Not Rett synd.-Progressive encephalopathy of neonatal onset	Male	2344
c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-ADHD	Male	2370
c.*5348T>C	3'UTR variation	3'UTR variation	3'UTR	Unknown	Not Rett synd.-autism only	Male	2373
c.591G>A	p.Thr197Thr	Silent	Inter-domain region	Silent polymorphism	Not Rett synd.-autism only	Male	2375
c.1035A>G	p.Lys345Lys	Silent	C-term	Silent polymorphism	Not Rett synd.-Schizophrenia	Male	2378
c.1233C>T	p.Ser411Ser	Silent	C-term	Silent polymorphism	Not Rett synd.-Alcoholism	Male	2380
c.1233C>T	p.Ser411Ser	Silent	C-term	Silent polymorphism	Not Rett synd.-Alcoholism	Male	2381
c.1233C>T	p.Ser411Ser	Silent	C-term	Silent polymorphism	Not Rett synd.-ADHD	Male	2382
c.1233C>T	p.Ser411Ser	Silent	C-term	Silent polymorphism	Not Rett synd.-ADHD	Male	2383
c.377+22C>G	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Rett synd.-Alcoholism	Male	2385
c.377+22C>G	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Rett synd.-Alcoholism	Male	2386
c.378-17delT	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Rett synd.-Alcoholism	Male	2387
c.1202G>A	p.Ser401Asn	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Male	2391
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Not Rett synd.-Angelman syndrome	Male	2492
c.393C>G	p.Ala131Ala	Silent	MBD	Silent polymorphism	Not Rett synd.-Prader-Willi syndrome	Male	2496
c.666C>G	p.Val222Val	Silent	TRD	Silent polymorphism	Not Rett synd.-Sporadic mental retardation	Male	2520
c.1233C>T	p.Ser411Ser	Silent	C-term	Silent polymorphism	Not Rett synd.-Sporadic mental retardation	Male	2525
c.1233C>T	p.Ser411Ser	Silent	C-term	Silent polymorphism	Not Rett synd.-Sporadic mental retardation	Male	2526
c.964C>T	p.Pro322Ser	Missense	C-term	Unknown	Not Rett synd.-Sporadic mental retardation	Male	2529
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-male variant	Male	2548
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-male variant	Male	2549
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-male variant	Male	2550
c.602C>T	p.Ala201Val	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-Autism	Male	2665
c.617G>C	p.Gly206Ala	missense	inter-domain region	Unknown	Not Rett synd.-Autism	Male	2666
c.1189G>A	p.Glu397Lys	missense	C-term	Polymorphism not causing disease	Not Rett synd.-Autism	Male	2667
c.1330G>A	p.Ala444Thr	missense	C-term	Polymorphism not causing disease	Not Rett synd.-Autism	Male	2671
c.245A>G	p.Lys82Arg	missense	MBD	Polymorphism not causing disease	Not Rett synd.-Non-Rett syndrome control	Male	2673
c.*204G>A	3'UTR variation	3'UTR variation	3'UTR	Unknown	Not Rett synd.-Autism	Male	2676
c.*371G>C	3'UTR variation	3'UTR variation	3'UTR	Unknown	Not Rett synd.-Autism	Male	2677
c.*554G>A	3'UTR variation	3'UTR variation	3'UTR	Unknown	Not Rett synd.-Autism	Male	2679
c.*861T>G	3'UTR variation	3'UTR variation	3'UTR	Unknown	Not Rett synd.-Autism	Male	2681
c.*1368C>A	3'UTR variation	3'UTR variation	3'UTR	Unknown	Not Rett synd.-Autism	Male	2697
c.*2556T>A	3'UTR variation	3'UTR variation	3'UTR	Unknown	Not Rett synd.-Autism	Male	2706
c.*2956G>A	3'UTR variation	3'UTR variation	3'UTR	Unknown	Not Rett synd.-Autism	Male	2709
c.377+24C>A	intronic variation	intronic variation	intronic	Unknown	Not Rett synd.-mental retardation	Male	2745
c.514C>T	p.Pro172Ser	missense	inter-domain region	Unknown	Not Rett synd.-mental retardation and autism combined	Male	2746
c.590C>T	p.Thr197Met	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-mental retardation	Male	2747
c.602C>T	p.Ala201Val	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-mental retardation	Male	2748
c.602C>T	p.Ala201Val	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-mental retardation	Male	2749
c.602C>T	p.Ala201Val	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-mental retardation	Male	2750
c.609G>A	p.Thr203Thr	silent	inter-domain region	Silent polymorphism	Not Rett synd.-mental retardation	Male	2751
c.683C>G	p.Thr228Ser	missense	TRD	Polymorphism not causing disease	Not Rett synd.-mental retardation	Male	2752
c.906C>G	p.Pro302Pro	silent	TRD	Silent polymorphism	Not Rett synd.-mental retardation	Male	2753
c.1164_1207del44	p.Pro389*	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-male variant	Male	2755
c.1214C>T	p.Pro405Leu	missense	C-term	Unknown	Not Rett synd.-mental retardation and autism combined	Male	2763
c.378-74C>T	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-mental retardation	Male	2764
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-mental retardation	Male	2765
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-mental retardation	Male	2766
c.602C>T	p.Ala201Val	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-mental retardation	Male	2767
c.815C>T	p.Pro272Leu	missense	TRD	Polymorphism not causing disease	Not Rett synd.-mental retardation	Male	2768
c.808delC	p.Arg270fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Not Rett synd.-progressive encephalopathy of neonatal onset	Male	2793
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Not Rett synd.-progressive encephalopathy of neonatal onset	Male	2794
c.469T>A	p.Phe157Ile	missense	MBD	Unknown	Not Rett synd.-progressive encephalopathy of neonatal onset	Male	2795
c.1250A>T	p.Lys417Met	missense	C-term	Unknown	Not Rett synd.-progressive encephalopathy of neonatal onset	Male	2796
c.1415_1416delAG	p.Glu472fs	frameshift insertion ord deletion	C-term	Mutation associated with disease	Not Rett synd.-X-linked mental retardation	Male	3019
c.225G>A	p.Pro75Pro	silent	N-term	Silent polymorphism	Not Rett synd.-mental retardation	Male	3020
c.[528C>G; 897C>T]	p.[Pro176Pro; Thr299Thr]	silent	inter-domain region	Silent polymorphism	Not Rett synd.-mental retardation	Male	3021
c.573C>T	p.Pro191Pro	silent	inter-domain region	Silent polymorphism	Not Rett synd.-mental retardation	Male	3022
c.582C>T	p.Ser194Ser	silent	inter-domain region	Silent polymorphism	Not Rett synd.-mental retardation	Male	3023
c.582C>T	p.Ser194Ser	silent	inter-domain region	Silent polymorphism	Not Rett synd.-mental retardation	Male	3024
c.686C>T	p.Ser229Leu	missense	TRD	Polymorphism not causing disease	Not Rett synd.-mental retardation	Male	3025
c.834C>T	p.Ala278Ala	silent	TRD	Silent polymorphism	Not Rett synd.-mental retardation	Male	3026
c.942C>T	p.Ile314Ile	silent	C-term	Silent polymorphism	Not Rett synd.-mental retardation	Male	3027
c.1189G>A	p.Glu397Lys	missense	C-term	Polymorphism not causing disease	Not Rett synd.-mental retardation	Male	3028
c.587C>G	p.Thr196Ser	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-mental retardation	Male	3029
c.587C>G	p.Thr196Ser	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-mental retardation	Male	3030
c.587C>G	p.Thr196Ser	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-mental retardation	Male	3031
c.683C>G	p.Thr228Ser	missense	TRD	Polymorphism not causing disease	Not Rett synd.-mental retardation	Male	3032
c.1180G>A	p.Glu394Lys	missense	C-term	Polymorphism not causing disease	Not Rett synd.-mental retardation	Male	3033
c.1438C>T	p.Pro480Ser	missense	C-term	Polymorphism not causing disease	Not Rett synd.-mental retardation	Male	3034
c.[397C>T; 602C>T]	p.[Arg133Cys; Ala201Val]	missense	MBD, inter-domain region	Mutation associated with disease	Rett syndrome-male variant	Male	3794
c.602C>T	p.Ala201Val	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-autism	Male	3808
c.1072G>A	p.Ala358Thr	missense	C-term	Polymorphism not causing disease	Not Rett synd.-epileptic encephalopathy	Male	3810
c.378-3_383del9	p.Asn126Lysfs*11	frameshift insertion or deletion	MBD	Mutation associated with disease	Not Rett synd.-Severe congenital encephalopathy	Male	3827
c.1214C>T	p.Pro405Leu	missense	C-term	Unknown	Not Rett synd.-Mental retardation	Male	3851
c.454C>G	p.Pro152Ala	missense	MBD	Mutation associated with disease	Not Rett synd.-Not specified	Male	3857
c.*8500C>G	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	3862
c.119_120delAG	p.Glu40fs	frameshift insertion or deletion	N-term	Mutation associated with disease	Not Rett synd.-neonatal encephalopathy	Male	3869
c.1373G>A	p.Arg458His	missense	c-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	3876
c.925C>T	p.Arg309Trp	missense	TRD	Unknown	Not Rett synd.-mental retardation	Male	3909
c.984C>A	p.Leu328Leu	silent	C-term	Silent polymorphism	Not Known	Male	3911
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Male	3924
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Male	3925
c.602C>T	p.Ala201Val	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	3929
c.378-74C>T	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	3931
c.590C>T	p.Thr197Met	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	3939
c.527C>G	p.Pro176Arg	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	3942
c.1133C>T	p.Ala378Val	missense	C-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	3946
c.1436C>T	p.Thr479Met	missense	C-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	3950
c.602C>T	p.Ala201Val	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	3953
c.587C>G	p.Thr196Ser	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	3975
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	3976
c.815C>T	p.Pro272Leu	missense	TRD	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	3977
c.*328G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	3978
c.*328G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	3979
AY523575.1:g.1029dupC	5'UTR variation	5'UTR variation	5'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Male	3984
AY523575.1:g.1029dupC	5'UTR variation	5'UTR variation	5'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Male	3985
AY523575.1:g.1029dupC	5'UTR variation	5'UTR variation	5'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Male	3986
c.[=/808delC]	p.[=/Arg270fs]	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Not Rett synd.-unaffected family member	Male	3988
c.365T>C	p.Val122Ala	missense	MBD	Unknown	Not Rett synd.-	Male	4036
c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	4043
c.36G>C	p.Lys12Asn	missense	N-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	4046
c.1451G>C	p.Arg484Thr	missense	C-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	4047
c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	4048
c.1141C>G	p.Pro381Ala	missense	C-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	4050
c.587C>G	p.Thr196Ser	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	4051
c.587C>G	p.Thr196Ser	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	4053
c.1180G>A	p.Glu394Lys	missense	C-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	4058
c.1438C>T	p.Pro480Ser	missense	C-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	4060
c.755dupG	p.Arg253fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-male variant	Male	4104
c.515C>T	p.Pro172Leu	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	4180
c.[1363G>T];[=]	p.[Glu455*];[=]	nonsense	C-term	Mutation associated with disease	Rett syndrome-male variant	Male	4198
c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-normal control	Male	4203
c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-normal control	Male	4204
c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-normal control	Male	4205
c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-normal control	Male	4206
c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-normal control	Male	4207
c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-normal control	Male	4208
c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-normal control	Male	4209
c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-normal control	Male	4210
c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-normal control	Male	4211
c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-normal control	Male	4212
c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-normal control	Male	4213
c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-normal control	Male	4214
c.*55C>G	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-normal control	Male	4217
c.[=/316C>T]	p.[=/Arg106Trp]	missense	MBD	Mutation associated with disease	Rett syndrome-male variant	Male	4218
c.1142_1227del86	p.Pro381fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-male variant	Male	4219
c.1142_1227del86	p.Pro381fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-male variant	Male	4220
c.608C>T	p.Thr203Met	missense	inter-domain region	Polymorphism not causing disease	Rett syndrome-male variant	Male	4222
c.808delC	p.Arg270fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-male variant	Male	4225
c.419C>T	p.Ala140Val	missense	MBD	Unknown	Not Rett synd.-x-linked mental retardation	Male	4398
c.419C>T	p.Ala140Val	missense	MBD	Unknown	Not Rett synd.-x-linked mental retardation	Male	4399
c.419C>T	p.Ala140Val	missense	MBD	Unknown	Not Rett synd.-x-linked mental retardation	Male	4400
c.419C>T	p.Ala140Val	missense	MBD	Unknown	Not Rett synd.-x-linked mental retardation	Male	4401
c.1164_1207del44	p.Pro389*	frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Male	4417
c.-114_-104del11	p.(=)	frameshift insertion or deletion	N-term	Mutation associated with disease	Not Known	Male	4446
c.686C>T	p.Ser229Leu	missense	TRD	Polymorphism not causing disease	Not Known	Male	4477
c.1288C>T	p.Pro430Ser	missense	C-term	Polymorphism not causing disease	Rett syndrome-male variant	Male	4588
c.1288C>T	p.Pro430Ser	missense	C-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	4590
c.992A>G	p.Lys331Arg	missense	C-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	4594
c.1339G>A	p.Ala447Thr	missense	C-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	4605
c.985G>A	p.Gly329Ser	missense	C-term	Polymorphism not causing disease	Not Rett synd.-schizophrenia	Male	4615
c.[=/360T>G]	p.[=/Tyr120*]	nonsense	MBD	Mutation associated with disease	Rett syndrome-atypical	Male	4671
c.1162_1179del18	p.Pro388_Pro393del	in-frame insertion or deletion	C-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	4714
c.925C>T	p.Arg309Trp	missense	TRD	Unknown	Not Rett synd.-psychomotor delay and absence of speech	Male	4748
c.1159_1160delCCinsT	p.Pro387fs	frameshift combined insertion and deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Male	4776
c.1164_1207del44	p.Pro389*	frameshift insertion or deletion	C-term	Mutation associated with disease	Not Rett synd.-progressive neurodevelopmental problems, seizures at 2y, no purposeful hand use, regression of motor skills	Male	4792
c.1164_1207del44	p.Pro389*	frameshift insertion or deletion	C-term	Mutation associated with disease	Not Rett synd.-deceleration of head growth at 2 month, loss of gross motor skills by 7 y, some stereotypic movements	Male	4793
c.479C>G	p.Thr160Ser	missense	MBD	Unknown	Not Rett synd.-autism	Male	4796
c.[=/657-?_1316+?del]	p.[=/?]	in-frame insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-male variant	Male	4807
c.608C>T	p.Thr203Met	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-mental retardation	Male	4860
c.1072G>A	p.Ala358Thr	missense	C-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	4893
c.1327G>A	p.Ala443Thr	missense	C-term	Unknown	Not Rett synd.-nonspecific mental retardation	Male	4897
c.1233_1243del11	p.Ser411fs	frameshift insertion or deletion	C-term	Unknown	Not Rett synd.-	Male	4966
c.590C>T	p.Thr197Met	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-autism	Male	5076
c.602C>T	p.Ala201Val	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-autism	Male	5077
c.602C>T	p.Ala201Val	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-depressive disease	Male	5079
c.1053C>G	p.Pro351Pro	silent	C-term	Silent polymorphism	Not Rett synd.-autism	Male	5080
c.897C>T	p.Thr299Thr	silent	TRD	Silent polymorphism	Not Rett synd.-autism	Male	5081
c.378-74C>T	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-autism	Male	5082
c.378-74C>T	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-autism	Male	5083
c.378-74C>T	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-autism	Male	5084
c.378-74C>T	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-autism	Male	5085
c.378-74C>T	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-autism	Male	5086
c.378-74C>T	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-autism	Male	5087
c.378-74C>T	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-autism	Male	5088
c.378-74C>T	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-autism	Male	5089
c.378-74C>T	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-autism	Male	5090
c.378-74C>T	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-autism	Male	5091
c.378-74C>T	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-autism	Male	5092
c.378-74C>T	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-autism	Male	5093
c.378-74C>T	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-autism	Male	5094
c.378-74C>T	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-autism	Male	5095
c.378-74C>T	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-autism	Male	5096
c.378-74C>T	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-autism	Male	5097
c.378-74C>T	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-autism	Male	5098
c.-143_-138dup	p.(=)	in-frame insertion or deletion	N-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	5114
c.1180G>A	p.Glu394Lys	missense	C-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	5237
c.1168_1173del6	p.Pro390_Pro391del	in-frame insertion or deletion	C-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	5250
c.-99+2_30delTG	intronic variant	Frameshift deletion	N-term	Mutation associated with disease	Rett syndrome-male variant	Male	5327
c.1164_1207del44	p.Pro389*	frameshift insertion or deletion	C-term	Mutation associated with disease	Not Rett synd.-X linked mental retardation	Male	6673
c.1168_1173del6	p.Pro390_Pro391del	frameshift insertion or deletion	C-term	Unknown	Not Rett synd.-x-linked mental retardation	Male	6647
c.506_507dupAG	p.Gln170fs	frameshift insertion or deletion	Inter-domain	Mutation associated with disease	Not Rett synd.-inf enceph	Male	6638
c.377A>T	p.Asn126Ile	missense	MBD	Unknown	Not Rett synd.-infant-onset encephalopathy	Male	6620
c.1250A>T	p.Lys417Met	missense	C-term	Unknown	Not Rett synd.-infant-onset encephalopathy	Male	6619
c.1168_1173del6	p.Pro390_Pro391del	in-frame insertion or deletion	C-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Male	6614
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Not Rett synd.-	Male	6607
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Not Rett synd.-mental retardation	Male	6600
c.499C>T	p.Arg167Trp	missense	Inter-domain	Mutation associated with disease	Not Rett synd.-x-linked mental retardation	Male	6591
c.1132G>T	p.Ala378Ser	missense	C-term	Unknown	Not Rett synd.-developmental delay	Male	6580
c.-143_-138dup6	p.(=)	in-frame insertion or deletion	5'UTR	Polymorphism not causing disease	Not Rett synd.-mental retardation	Male	6840
c.419C>T	p.Ala140Val	missense	MBD	Mutation associated with disease	Not Rett synd.-x-linked mental retardation	Male	6913
c.608C>T	p.Thr203Met	missense	Inter-domain region	Polymorphism not causing disease	Not Rett synd.-not certain	Male	6911
c.1193A>C	p.Asp398Ala	missense	C-term	Polymorphism not causing disease	Not Rett synd.-not certain	Male	6910
c.426C>T	p.Phe142Phe	missense	MBD	Silent polymorphism	Not Rett synd.-not certain	Male	6907
c.-116_-114dup	p.(=)	in-frame insertion or deletion	N-term	Polymorphism not causing disease	Not Known	Male	6899
c.602C>T	p.(Ala201Val)	missense	TRD	Polymorphism not causing disease	Not Known	Male	6898
c.1417G>C	p.(Glu473Gln)	missense	C-term	Unknown	Not Rett synd.-unaffected family member	Male	6901
c.-138_-134dup	p.(=)	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-classical	Male	6993
c.397C > T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Not Rett synd.-x-linked mental retardation	Male	6995
c.[1164_1207 del(;)1231_1233delAGC ]	p.[Pro389*(;)Ser411del]	nonsense,frameshift insertion or deletion	C-term	Mutation associated with disease	Not Rett synd.-x-linked mental retardation	Male	6998
c.1373G>A	p.(Arg458His)	missense	C-term	Unknown	Not Rett synd.-x-linked mental retardation	Male	6999
c.441C > G	p.Asp147Glu	missense	MBD	Unknown	Not Rett synd.-x-linked mental retardation	Male	7000
c.441C > G	p.Asp147Glu	missense	MBD	Unknown	Not Rett synd.-x-linked mental retardation	Male	7001
c.1162C>T	p.Pro388Ser	missense	C-term	Unknown	Not Rett synd.-autism only	Male	7003
c.1410_1411delCA	p.Asn470Lysfs*16	frameshift insertion or deletion		Mutation associated with disease	Rett syndrome-atypical	Male	7005
c.1410_1411delCA	p.Asn470Lysfs*16	frameshift insertion or deletion		Mutation associated with disease	Rett syndrome-atypical	Male	7006
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Not Rett synd.-progressive encephalopathy of neonatal onset	Male	7031
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Not Rett synd.-progressive encephalopathy of neonatal onset	Male	7040
c.1235_1260del26	p.Val412fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1
c.808delC	p.Arg270fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	2
c.917G>A	p.Arg306His	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	3
c.1168_1173del6	p.Pro390_Pro391del	In-frame insertion or deletion	C-term	Polymorphism not causing disease	Rett syndrome-Not certain	Female	4
c.455C>G	p.Pro152Arg	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	5
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	6
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	7
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	8
uncertain	p.Ile314Ile	Silent	C-term	Silent polymorphism	Rett syndrome-Not certain	Female	9
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	10
c.905C>G	p.Pro302Arg	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	11
c.-99+2_-99+3delTG	intronic variant	intronic variation	intronic	Mutation associated with disease	Rett syndrome-classical	Female	3866
c.1164_1207del44	p.Pro389*	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	14
c.474G>A	p.Thr158Thr	Silent	MBD	Silent polymorphism	Rett syndrome-Not certain	Female	15
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	16
c.1035A>G	p.Lys345Lys	Silent	C-term	Silent polymorphism	Rett syndrome-Not certain	Female	17
c.1153_1190del38	p.Pro385fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	18
c.834C>T	p.Ala278Ala	Silent	TRD	Silent polymorphism	Rett syndrome-Not certain	Female	19
c.378-17delT	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Rett syndrome-Not certain	Female	20
c.806delG	p.Gly269fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	21
c.1164_1207del44	p.Pro389*	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	22
c.1104_1106del3	p.His372del	In-frame insertion or deletion	C-term	Unknown	Rett syndrome-Not certain	Female	23
c.1065C>T	p.Ser355Ser	Silent	C-term	Silent polymorphism	Rett syndrome-Not certain	Female	24
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	25
c.905C>G	p.Pro302Arg	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	26
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	27
c.289G>T	p.Asp97Tyr	Missense	MBD	Unknown	Rett syndrome-Not certain	Female	28
c.398G>A	p.Arg133His	Missense	MBD	Unknown	Rett syndrome-Not certain	Female	29
c.914A>G	p.Lys305Arg	Missense	TRD	Unknown	Rett syndrome-Not certain	Female	30
c.730C>T	p.Gln244*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	31
c.710dupG	p.Gly238fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	32
c.748dupC	p.Arg250fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	33
c.808delC	p.Arg270fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	34
c.856_859delAAAG	p.Lys286fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	35
c.1012_1202del191	p.Thr338fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	36
c.[1038_1119del82; 1169_1339del171ins137]	p.Ser346fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	37
c.1157_1197del41	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	39
c.1160_1185del26	p.Pro387fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	40
c.1160_1185del26	p.Pro387fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	41
c.1160_1185del26	p.Pro387fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	42
c.1164_1206del43	p.Pro389fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	43
c.1454_1457del4	p.Val485fs	Frameshift insertion or deletion	C-term	Unknown	Rett syndrome-Not certain	Female	44
c.426C>T	p.Phe142Phe	Silent	MBD	Silent polymorphism	Rett syndrome-Not certain	Female	45
c.590C>T	p.Thr197Met	Missense	Inter-domain region	Polymorphism not causing disease	Rett syndrome-Not certain	Female	46
c.834C>T	p.Ala278Ala	Silent	TRD	Silent polymorphism	Rett syndrome-Not certain	Female	47
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	49
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	50
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	51
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	52
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	53
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	54
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	55
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	56
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	57
c.455C>G	p.Pro152Arg	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	58
c.455C>G	p.Pro152Arg	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	59
c.455C>G	p.Pro152Arg	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	60
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	62
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	63
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	64
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	65
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	66
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	67
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	68
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	69
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	70
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	71
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	72
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	73
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	74
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	75
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	76
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	77
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	78
c.965C>T	p.Pro322Leu	Missense	C-term	Unknown	Rett syndrome-Not certain	Female	79
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	80
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	81
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	82
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	83
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	84
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	85
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	86
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	87
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	88
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	89
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	90
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	91
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	92
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	93
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	94
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	95
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	96
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	97
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	98
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	99
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	100
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	101
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	102
c.378-2A>G	intronic variation	intronic variation	intronic	Mutation associated with disease	Rett syndrome-Not certain	Female	103
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	104
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Preserved speech	Female	105
c.401C>G	p.Ser134Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	106
c.455C>G	p.Pro152Arg	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	107
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	108
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	109
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Preserved speech	Female	110
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	111
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	112
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	113
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	114
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	115
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	116
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	117
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	118
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	119
c.904C>G	p.Pro302Ala	Missense	TRD	Unknown	Rett syndrome-Preserved speech	Female	120
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	121
c.[965C>T(;)999G>T]	p.[Pro322Leu(;)Gly333Gly]	Missense, silent	C-term	Unknown	Rett syndrome-Not certain	Female	122
c.258_259delCA	p.Ile87fs	Frameshift insertion or deletion	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	123
c.378-2A>G	intronic variation	Intronic variation	Intronic	Mutation associated with disease	Rett syndrome-Not certain	Female	124
c.1157_1200del44	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	125
c.1163_1197del35	p.Pro388fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	126
c.1364_1365insC	p.Glu455fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Congenital onset	Female	127
c.1326C>T	p.Thr442Thr	Silent	C-term	Silent polymorphism	Not Rett synd.-Unaffected family member	Female	150
c.602C>T	p.Ala201Val	Missense	Inter-domain region	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	151
c.1126C>T	p.Pro376Ser	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	153
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	154
c.372G>C	p.Leu124Phe	Missense	MBD	Unknown	Rett syndrome-Classical	Female	155
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Preserved speech	Female	156
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	157
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	158
c.401C>G	p.Ser134Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	159
c.455C>G	p.Pro152Arg	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	160
c.455C>G	p.Pro152Arg	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	161
c.455C>G	p.Pro152Arg	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	162
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	163
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	164
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	165
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	166
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	167
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Preserved speech	Female	168
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	169
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	170
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	171
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	172
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	173
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	174
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	175
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	176
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	177
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	178
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	179
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	180
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	181
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	182
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	183
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	184
c.375delC	p.Asn126fs	Frameshift insertion or deletion	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	185
c.695delG	p.Gly232fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	186
c.696delC	p.Lys233fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	187
c.756_759delCAGG	p.Arg253fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	188
c.808delC	p.Arg270fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	189
c.302C>G	p.Pro101Arg	Missense	MBD	Unknown	Rett syndrome-Not certain	Female	190
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	191
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	192
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	193
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	194
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	195
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	196
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	197
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	198
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	199
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	200
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	201
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	202
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	203
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	204
c.1189G>A	p.Glu397Lys	Missense	C-term	Polymorphism not causing disease	Rett syndrome-Not certain	Female	205
c.897C>T	p.Thr299Thr	Silent	TRD	Silent polymorphism	Rett syndrome-Not certain	Female	206
c.378-17delT	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Rett syndrome-Not certain	Female	207
c.377+11G>C	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Rett syndrome-Not certain	Female	208
c.582C>T	p.Ser194Ser	Silent	Inter-domain region	Silent polymorphism	Not Rett synd.-Sporadic mental retardation	Female	209
c.582C>T	p.Ser194Ser	Silent	Inter-domain region	Silent polymorphism	Not Rett synd.-Sporadic mental retardation	Female	210
c.1071C>T	p.Ser357Ser	Silent	C-term	Silent polymorphism	Not Rett synd.-Sporadic mental retardation	Female	211
c.378-61C>G	intronic variation	Intronic variation	Intronic	Unknown	Not Rett synd.-Sporadic mental retardation	Female	212
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	213
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	214
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	215
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Atypical	Female	216
c.608C>T	p.Thr203Met	Missense	Inter-domain region	Polymorphism not causing disease	Rett syndrome-atypical	Female	217
c.419C>T	p.Ala140Val	Missense	MBD	Unknown	Not Rett synd.-X-linked mental retardation	Female	218
c.419C>T	p.Ala140Val	Missense	MBD	Unknown	Not Rett synd.-X-linked mental retardation	Female	219
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	262
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	263
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	264
c.455C>G	p.Pro152Arg	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	265
c.467A>G	p.Asp156Gly	Missense	MBD	Unknown	Rett syndrome-Not certain	Female	266
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	267
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	268
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	269
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	270
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	271
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	272
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	273
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	274
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	275
c.613G>T	p.Glu205*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	276
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	277
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	278
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	279
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	280
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	281
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	282
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	283
c.378-2A>G	intronic variation	Intronic variation	Intronic	Mutation associated with disease	Rett syndrome-Not certain	Female	284
c.720dupC	p.Thr241fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	285
c.1156_1200del45	p.Leu386_Thr400del	In-frame insertion or deletion	C-term	Unknown	Rett syndrome-Not certain	Female	286
c.1039_1195del157insGT	p.Lys347fs	Frameshift combined insertion and deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	287
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	288
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	289
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	290
c.380C>T	p.Pro127Leu	Missense	MBD	Unknown	Rett syndrome-Preserved speech	Female	291
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	292
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	293
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	294
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	295
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	296
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	297
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	298
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	299
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	300
c.508C>T	p.Gln170*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	301
c.674C>G	p.Pro225Arg	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	302
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	303
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	304
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	305
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	306
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	307
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	308
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	309
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	310
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	311
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	312
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	313
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	314
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	315
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	316
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	317
c.904C>G	p.Pro302Ala	Missense	TRD	Unknown	Rett syndrome-Classical	Female	318
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	319
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	320
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	321
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	322
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	323
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	324
not certain	p.Leu386fs	Not known	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	325
not certain	p.Leu386fs	Not known	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	326
not certain	p.Leu386fs	Not known	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	327
not certain	p.Leu386fs	Not known	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	328
c.398G>T	p.Arg133Leu	Missense	MBD	Unknown	Rett syndrome-Classical	Female	329
c.423C>G	p.Tyr141*	Nonsense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	330
c.431delA	p.Lys144fs	Frameshift insertion or deletion	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	331
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	332
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	333
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	334
c.674C>G	p.Pro225Arg	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	335
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	336
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	337
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	338
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	339
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	340
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	341
c.806delG	p.Gly269fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	342
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	343
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	344
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	345
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	346
c.1157_1197del41	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Preserved speech	Female	347
c.1160_1200del41	p.Pro387fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	348
c.1164_1207del44	p.Pro389*	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Preserved speech	Female	349
c.1165_1233del69ins21	p.Pro389_Pro411del23ins7	In-frame combined insertion and deletion	C-term	Unknown	Rett syndrome-Classical	Female	350
c.984C>T	p.Leu328Leu	Silent	C-term	Silent polymorphism	Rett syndrome-Classical	Female	351
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	355
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	354
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	356
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	357
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	358
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	359
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Not Known	Female	360
c.401C>G	p.Ser134Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	361
c.455C>G	p.Pro152Arg	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	362
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	363
c.426C>T	p.Phe142Phe	Silent	MBD	Silent polymorphism	Rett syndrome-Atypical	Female	364
c.426C>T	p.Phe142Phe	Silent	MBD	Silent polymorphism	Not Rett synd.-Unaffected family member	Female	365
c.1163_1197del35	p.Pro388fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	367
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	368
c.753dupC	p.Gly252fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	369
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	370
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	371
c.317G>A	p.Arg106Gln	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	372
c.[590C>T(;)674C>T]	p.[Thr197Met(;)Pro225Arg]	Missense	Inter-domain region, TRD	Mutation associated with disease	Rett syndrome-Atypical	Female	374
c.590C>T	p.Thr197Met	Missense	Inter-domain region	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	375
c.590C>T	p.Thr197Met	Missense	Inter-domain region	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	376
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	377
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	378
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	379
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	380
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Atypical	Female	382
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Not Known	Female	383
c.[1157_1197del41; 1232_1240del9]	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	384
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	385
c.710dupG	p.Gly238fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	386
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	387
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	388
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Not Known	Female	389
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	390
c.1157_1200del44	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	391
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	392
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	393
c.1430G>C	p.Ser477Thr	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	395
c.[880C>T(;)1430G>C]	p.[Arg294*(;)Ser477Thr]	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Atypical	Female	396
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	397
c.1189G>A	p.Glu397Lys	Missense	C-term	Polymorphism not causing disease	Rett syndrome-Classical	Female	398
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	400
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Atypical	Female	401
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	402
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	403
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	404
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	405
c.1450_*12del24	p.Val485_Ser486delins21	In-frame insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Atypical	Female	406
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	407
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	408
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Atypical	Female	409
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	410
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	411
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Atypical	Female	412
c.917G>A	p.Arg306His	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	413
c.1335G>A	p.Thr445Thr	Silent	C-term	Silent polymorphism	Not Rett synd.-Unaffected family member	Female	414
c.1335G>A	p.Thr445Thr	Silent	C-term	Silent polymorphism	Rett syndrome-Atypical	Female	415
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Atypical	Female	416
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Not Known	Female	417
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	418
c.455C>G	p.Pro152Arg	Missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	419
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	420
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Atypical	Female	421
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Not Known	Female	422
c.[1104C>T; 1107_1327del221]	p.[His368His;His370fs]	Silent, frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Atypical	Female	423
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Not Known	Female	424
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	425
c.455C>G	p.Pro152Arg	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	426
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Atypical	Female	427
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	428
c.1155_1200del46	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	429
c.598A>T	p.Lys200*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	430
c.582C>T	p.Ser194Ser	Silent	Inter-domain region	Silent polymorphism	Rett syndrome-Atypical	Female	431
c.398G>A	p.Arg133His	Missense	MBD	Unknown	Rett syndrome-Atypical	Female	433
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	434
c.[897C>T(;)1155_1200del46]	p.[Thr299Thr(;)Leu386fs]	Silent, frameshift insertion or deletion	TRD, C-term	Mutation associated with disease	Rett syndrome-Atypical	Female	435
c.897C>T	p.Thr299Thr	Silent	TRD	Silent polymorphism	Not Rett synd.-Unaffected family member	Female	436
c.1189G>A	p.Glu397Lys	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	437
c.[473C>T];[1189G>A]	p.[Thr158Met];[Glu397Lys]	Missense	MBD, C-term	Mutation associated with disease	Rett syndrome-Atypical	Female	438
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	439
c.[397C>T(;)438C>T]	p.[Arg133Cys(;)Gly146Gly]	Missense, silent	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	440
c.[819G>T(;)1161C>T]	p.[Gly273Gly(;)Pro387Pro]	Silent	TRD, C-term	Silent polymorphism	Rett syndrome-Atypical	Female	441
c.819G>T	p.Gly273Gly	Silent	TRD	Silent polymorphism	Not Rett synd.-Unaffected family member	Female	442
c.480_481delTG	p.Gly161fs	Frameshift insertion or deletion	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	443
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	444
c.[806delG(;) *8C>T]	p.Gly269fs	frameshift insertion or deletion, 3'UTR variation	TRD-NLS, 3'UTR	Mutation associated with disease	Rett syndrome-Classical	Female	446
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	447
c.1157_1200del44	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	448
c.*8C>T	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	449
c.812_818del7	p.Lys271fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	450
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	451
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	452
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	453
c.[808C>T(;) 1233C>T]	p.[Arg270*(;) Ser411Ser]	nonsense, silent	TRD-NLS, C-term	Mutation associated with disease	Rett syndrome-Classical	Female	454
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Atypical	Female	455
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	456
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Atypical	Female	457
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	458
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Atypical	Female	459
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Atypical	Female	460
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	461
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Atypical	Female	462
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	463
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Atypical	Female	464
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	465
c.1403_1408del6	p.Arg468_Pro469del	In-frame insertion or deletion	C-term	Unknown	Rett syndrome-Classical	Female	466
c.917G>A	p.Arg306His	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	467
c.100_103delGATA	p.Asp34fs	Frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-Classical	Female	468
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Not Known	Female	469
c.378-17delT	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Rett syndrome-Atypical	Female	470
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Atypical	Female	471
c.806delG	p.Gly269fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	472
c.[916C>T(;)984C>T]	p.[Arg306Cys(;)Leu328Leu]	Missense, silent	TRD, C-term	Mutation associated with disease	Rett syndrome-Classical	Female	473
c.984C>T	p.Leu328Leu	Silent	C-term	Silent polymorphism	Not Rett synd.-Unaffected family member	Female	474
c.[608C>T(;)763C>T]	p.[Thr203Met(;)Arg255*]	Missense, nonsense	inter-domain region, TRD	Mutation associated with disease	Rett syndrome-Classical	Female	475
c.917G>A	p.Arg306His	Missense	TRD	Mutation associated with disease	Not Known	Female	476
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	477
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	478
c.27-8C>G	intronic variation	Intronic variation	Intronic	Unknown	Rett syndrome-Classical	Female	479
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Atypical	Female	480
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	481
c.1157_1197del41	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	482
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Not Rett synd.-Unaffected family member	Female	953
c.582C>T	p.Ser194Ser	Silent	Inter-domain region	Silent polymorphism	Rett syndrome-Classical	Female	952
c.-15C>T	5'UTR variation	5'UTR variation	5'UTR	Unknown	Not Rett synd.-Unaffected family member	Female	951
c.-15C>T	5'UTR variation	5'UTR variation	5'UTR	Unknown	Rett syndrome-Classical	Female	950
c.1158_1167del10	p.Pro387fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	949
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	948
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	947
c.1163_1188del26	p.Pro388fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	946
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	945
c.677_678insA	p.Phe226fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	944
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	943
c.1461A>C	p.*487Cysext*27	Nonstop	C-term	Unknown	Rett syndrome-Classical	Female	942
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	941
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	940
c.1038C>G	p.Ser346Arg	Missense	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	939
c.905C>G	p.Pro302Arg	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	938
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	937
c.1156_1172del17	p.Leu386*	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	936
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	935
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	934
c.1194_1195insT	p.Pro399fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	933
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	932
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	931
c.592A>T	p.Arg198*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	930
c.1165_1190del26	p.Pro389fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	929
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	928
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	927
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	926
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	925
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	924
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	923
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	922
c.317G>A	p.Arg106Gln	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	921
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	920
c.582C>T	p.Ser194Ser	Silent	Inter-domain region	Silent polymorphism	Rett syndrome-Not certain	Female	848
c.582C>T	p.Ser194Ser	Silent	Inter-domain region	Silent polymorphism	Rett syndrome-Not certain	Female	847
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	846
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	845
c.1216C>T	p.Gln406*	Nonsense	C-term	Mutation associated with disease	Not Rett synd.-Unaffected family member	Female	1542
c.1161_1400del240	p.Pro388_Pro467del	In-frame insertion or deletion	C-term	Unknown	Not Rett synd.-Unaffected family member	Female	837
c.1161_1400del240	p.Pro388_Pro467del	In-frame insertion or deletion	C-term	Unknown	Not Rett synd.-Unaffected family member	Female	835
c.686C>T	p.Ser229Leu	Missense	TRD	Polymorphism not causing disease	Rett syndrome-Classical	Female	1011
c.317G>A	p.Arg106Gln	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1025
c.317G>A	p.Arg106Gln	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1026
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1027
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1028
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1029
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1030
c.455C>G	p.Pro152Arg	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1031
c.464T>C	p.Phe155Ser	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1032
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1033
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1034
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1035
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1036
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1037
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1038
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1039
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1040
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1041
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1042
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1043
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1044
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1045
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1046
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1047
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1048
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1049
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1050
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1051
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1052
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1053
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1054
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1055
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1056
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1057
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1058
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1059
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1060
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1061
c.917G>A	p.Arg306His	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1062
c.423C>G	p.Tyr141*	Nonsense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1063
c.430A>T	p.Lys144*	Nonsense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1064
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1065
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1066
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1067
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1068
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1069
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1070
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1071
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1072
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1073
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1074
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1075
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1076
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1077
c.508C>T	p.Gln170*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1078
c.611C>G	p.Ser204*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1079
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1080
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1081
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1082
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1083
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1084
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1085
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1086
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1087
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1088
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1089
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1090
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1091
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1092
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1093
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1094
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1095
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1096
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1097
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1098
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1099
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1100
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1101
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1102
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1103
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1104
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1105
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1106
c.1079C>A	p.Ser360*	Nonsense	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1107
c.378-2A>G	intronic variation	Intronic variation	Intronic	Mutation associated with disease	Rett syndrome-Not certain	Female	1108
c.554delG	p.Gly185fs	Frameshift insertion or deletion	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1109
c.710delG	p.Gly237fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1110
c.753delC	p.Gly252fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1111
c.752_753dupCC	p.Gly252fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1112
c.806delG	p.Gly269fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1113
c.806delG	p.Gly269fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1114
c.808delC	p.Arg270fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1115
c.[965_970del6; 1029dupG; 1138_1208del71]	p.[Pro322_Leu323del; Arg344fs]	In-frame insertion or deletion, frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1116
c.[1118_1300del183ins61];[1157_1197del41]	p.[Ser373fs];[Leu386fs]	frameshift combined insertion and deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1117
c.[1161_1166del6; 1180_1205del26]	p.[Pro390_Pro391del;Glu394Profs*2]	In-frame insertion or deletion, frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1118
c.1163_1188del26	p.Pro388fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1119
c.[1163_1173del11; 1176_1193del18]	p.Pro388fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1120
c.1164_1207del44	p.Pro389*	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1121
c.1308_1309delTC	p.Gln437fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1122
c.375C>A	p.Ile125Ile	Silent	MBD	Silent polymorphism	Rett syndrome-Not certain	Female	1123
c.582C>T	p.Ser194Ser	Silent	Inter-domain region	Silent polymorphism	Rett syndrome-Not certain	Female	1124
c.582C>T	p.Ser194Ser	Silent	Inter-domain region	Silent polymorphism	Rett syndrome-Not certain	Female	1125
c.608C>T	p.Thr203Met	Missense	Inter-domain region	Polymorphism not causing disease	Rett syndrome-Not certain	Female	1126
c.843C>T	p.Ala281Ala	Silent	TRD	Silent polymorphism	Rett syndrome-Not certain	Female	1127
c.984C>T	p.Leu328Leu	Silent	C-term	Silent polymorphism	Rett syndrome-Not certain	Female	1128
c.1189G>A	p.Glu397Lys	Missense	C-term	Polymorphism not causing disease	Rett syndrome-Not certain	Female	1129
c.1233C>T	p.Ser411Ser	Silent	C-term	Silent polymorphism	Rett syndrome-Not certain	Female	1130
c.1233C>T	p.Ser411Ser	Silent	C-term	Silent polymorphism	Rett syndrome-Not certain	Female	1131
c.1233C>T	p.Ser411Ser	Silent	C-term	Silent polymorphism	Rett syndrome-Not certain	Female	1132
c.1233C>T	p.Ser411Ser	Silent	C-term	Silent polymorphism	Rett syndrome-Not certain	Female	1133
c.1233C>T	p.Ser411Ser	Silent	C-term	Silent polymorphism	Rett syndrome-Not certain	Female	1134
c.1233C>T	p.Ser411Ser	Silent	C-term	Silent polymorphism	Rett syndrome-Not certain	Female	1135
c.1330G>A	p.Ala444Thr	Missense	C-term	Polymorphism not causing disease	Rett syndrome-Not certain	Female	1136
c.1330G>A	p.Ala444Thr	Missense	C-term	Polymorphism not causing disease	Rett syndrome-Not certain	Female	1137
c.257C>G	p.Ser86Cys	Missense	MBD	Unknown	Rett syndrome-Not certain	Female	1138
c.298C>G	p.Leu100Val	Missense	MBD	Unknown	Rett syndrome-Not certain	Female	1139
c.859G>C	p.Ala287Pro	Missense	TRD	Unknown	Rett syndrome-Not certain	Female	1140
c.871T>G	p.Ser291Ala	Missense	TRD	Unknown	Rett syndrome-Not certain	Female	1141
c.914A>G	p.Lys305Arg	Missense	TRD	Unknown	Rett syndrome-Not certain	Female	1142
c.1234G>A	p.Val412Ile	Missense	C-term	Polymorphism not causing disease	Rett syndrome-Not certain	Female	1143
c.1164_1172del9	p.Pro389_Pro391del	In-frame insertion or deletion	C-term	Unknown	Rett syndrome-Not certain	Female	1144
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1145
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1146
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1147
c.806delG	p.Gly269fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1148
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Not Rett synd.-Progressive encephalopathy of neonatal onset	Female	1149
c.1157_1200del44	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Not Rett synd.-Angelman syndrome	Female	1151
c.302C>G	p.Pro101Arg	Missense	MBD	Unknown	Not Rett synd.-Angelman syndrome	Female	1152
c.1159_1210del52	p.Pro387fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Not Rett synd.-Angelman syndrome	Female	1153
c.423C>G	p.Tyr141*	Nonsense	MBD	Mutation associated with disease	Not Rett synd.-Angelman syndrome	Female	1154
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1156
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1157
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1158
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1159
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1160
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1161
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1162
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1163
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1164
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1165
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1166
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1167
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1168
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1169
c.905C>G	p.Pro302Arg	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1171
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Preserved speech	Female	1175
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Preserved speech	Female	1176
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Preserved speech	Female	1177
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Preserved speech	Female	1178
c.1158_1186del29	p.Pro387fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Preserved speech	Female	1179
c.1157_1197del41	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Preserved speech	Female	1180
c.1157_1188del32	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Preserved speech	Female	1181
c.897C>T	p.Thr299Thr	Silent	TRD	Silent polymorphism	Not Rett synd.-Unaffected family member	Female	1540
c.1061_1156del96	p.Arg352_Pro385del	In-frame insertion or deletion	C-term	Unknown	Rett syndrome-Classical	Female	1196
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	1197
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1198
c.753dupC	p.Gly252fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1200
c.345delC	p.Ser116fs	Frameshift insertion or deletion	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	1201
c.898_1099del202	p.Val300fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1202
c.1127_1179del53	p.Pro376fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1205
c.1157_1197del41	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	1206
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1207
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	1208
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1209
c.1326C>T	p.Thr442Thr	Silent	C-term	Silent polymorphism	Rett syndrome-Classical	Female	1210
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1211
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	1212
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1213
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	1214
c.298C>G	p.Leu100Val	Missense	MBD	Unknown	Rett syndrome-Classical	Female	1215
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	1216
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	1217
c.1176G>A	p.Glu392Glu	Silent	C-term	Silent polymorphism	Rett syndrome-Classical	Female	1218
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	1219
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1220
c.289G>T	p.Asp97Tyr	Missense	MBD	Unknown	Rett syndrome-Classical	Female	1221
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	1223
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	1224
c.455C>G	p.Pro152Arg	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	1225
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	1226
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	1227
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	1228
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1229
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1230
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1231
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1232
c.378-17delT	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	1233
c.840C>T	p.Ala280Ala	Silent	TRD	Silent polymorphism	Not Rett synd.-Unaffected family member	Female	1234
c.[763C>T(;)1449G>C]	p.[Arg255*(;)Glu483Asp]	Nonsense	TRD, C-term	Mutation associated with disease	Rett syndrome-Classical	Female	1235
c.[802C>T(;) 808C>T]	p.[Arg268Trp(;) Arg270*]	Missense, nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	1236
c.[750C>T(;)1459T>C]	p.[Arg250Arg(;)*487Argext27]	Silent, nonstop	TRD, C-term	Unknown	Rett syndrome-Classical	Female	1237
c.750C>T	p.Arg250Arg	Silent	TRD	Silent polymorphism	Not Rett synd.-Unaffected family member	Female	1238
c.488_489delGG	p.Gly163fs	Frameshift insertion or deletion	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	1240
c.582C>T	p.Ser194Ser	Silent	Inter-domain region	Silent polymorphism	Rett syndrome-Not certain	Female	1241
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1242
c.468C>G	p.Asp156Glu	Missense	MBD	Unknown	Rett syndrome-Not certain	Female	1243
c.468C>G	p.Asp156Glu	Missense	MBD	Unknown	Rett syndrome-Not certain	Female	1244
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1245
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1246
c.531delA	p.Lys177fs	Frameshift insertion or deletion	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1247
c.635_655del21	p.Val212_Lys219delinsGlu	In-frame insertion or deletion	TRD	Unknown	Rett syndrome-Not certain	Female	1248
c.674C>G	p.Pro225Arg	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1249
c.674C>G	p.Pro225Arg	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1250
c.674C>G	p.Pro225Arg	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1251
c.753delC	p.Gly252fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1252
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1253
c.880_884del5	p.Arg294fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1254
c.1099_1118del20	p.His367fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1255
c.1121_1191del71	p.Glu374fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1256
c.1157_1188del32	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1257
c.1163_1188del26	p.Pro388fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1258
c.1167_1200del34	p.Pro390fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1259
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1260
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1261
c.317G>A	p.Arg106Gln	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1262
c.317G>A	p.Arg106Gln	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1263
c.55C>T	p.Gln19*	Nonsense	N-term	Mutation associated with disease	Rett syndrome-Atypical	Female	1264
c.419C>T	p.Ala140Val	Missense	MBD	Unknown	Not Rett synd.-Unaffected family member	Female	1265
c.419C>T	p.Ala140Val	Missense	MBD	Unknown	Not Rett synd.-Unaffected family member	Female	1267
c.419C>T	p.Ala140Val	Missense	MBD	Unknown	Not Rett synd.-Unaffected family member	Female	1271
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1376
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1377
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1378
c.1157_1197del41	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1379
c.750_750delCinsTCAGGAAGCTT	p.Pro251fs	Frameshift combined insertion and deletion	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1380
c.1043_1173del131insTG	p.Glu348_Pro391delinsVal	In-frame combined insertion and deletion	C-term	Unknown	Rett syndrome-Not certain	Female	1381
c.377+6_377+9del	intronic variation	Intronic variation	Intronic	Unknown	Not Rett synd.-autism only	Female	1382
c.602C>T	p.Ala201Val	Missense	Inter-domain region	Polymorphism not causing disease	Not Known	Female	1385
c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-autism only	Female	1386
c.1075T>C	p.Ser359Pro	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	1389
c.1075T>C	p.Ser359Pro	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	1390
c.1075T>C	p.Ser359Pro	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	1391
c.1075T>C	p.Ser359Pro	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	1392
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	1395
c.455C>G	p.Pro152Arg	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	1396
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	1397
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	1398
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	1399
c.898G>A	p.Val300Ile	Missense	TRD	Unknown	Rett syndrome-Classical	Female	1400
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1401
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1402
c.964C>G	p.Pro322Ala	Missense	C-term	Unknown	Rett syndrome-Classical	Female	1403
c.64A>T	p.Lys22*	Nonsense	N-term	Mutation associated with disease	Rett syndrome-Classical	Female	1404
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	1405
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	1406
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	1407
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1408
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1409
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	1410
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	1411
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	1412
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	1413
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	1414
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	1415
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	1416
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	1417
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1418
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1419
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1420
c.889C>T	p.Gln297*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1421
c.889C>T	p.Gln297*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1422
c.696delC	p.Lys233fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1423
c.710dupG	p.Gly238fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1424
c.736_737insAT	p.Met246fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1425
c.806delG	p.Gly269fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	1426
c.1160_1188del29	p.Pro387fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	1427
c.1157_1197del41	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	1428
c.1200dupC	p.Ser401fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	1429
c.602C>T	p.Ala201Val	Missense	Inter-domain region	Polymorphism not causing disease	Rett syndrome-Classical	Female	1430
c.777C>T	p.Ala259Ala	Silent	TRD-NLS	Silent polymorphism	Rett syndrome-Classical	Female	1431
c.903C>T	p.Leu301Leu	Silent	TRD	Silent polymorphism	Rett syndrome-Classical	Female	1432
c.378-241C>T	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Rett syndrome-Classical	Female	1433
c.301C>T	p.Pro101Ser	Missense	MBD	Unknown	Rett syndrome-Classical	Female	1436
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	1437
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	1438
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	1439
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	1440
c.401C>G	p.Ser134Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	1441
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	1442
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	1443
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	1444
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	1445
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	1446
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	1447
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	1448
c.622C>T	p.Gln208*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1449
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1450
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1451
c.806delG	p.Gly269fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	1452
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1453
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1454
c.1157_1197del41	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	1455
c.1152_1195del44	p.Pro385fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	1456
c.1157_1200del44	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	1457
c.35_42dup	p.Asp15fs	Frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-Classical	Female	1458
c.64A>T	p.Lys22*	Nonsense	N-term	Mutation associated with disease	Rett syndrome-Classical	Female	1459
c.401C>G	p.Ser134Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	1460
c.423C>G	p.Tyr141*	Nonsense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	1461
c.455C>G	p.Pro152Arg	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	1462
c.472A>G	p.Thr158Ala	Missense	MBD	Unknown	Rett syndrome-Preserved speech	Female	1463
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	1464
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	1465
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	1466
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	1467
c.566delG	p.Gly189fs	Frameshift insertion or deletion	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	1468
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1469
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1470
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1471
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1472
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	1473
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	1474
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	1475
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	1476
c.1116_1201del86	p.His372fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	1477
c.1163_1188del26	p.Pro388fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	1478
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Not Rett synd.-Unaffected family member	Female	1479
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	1481
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1482
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1483
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1491
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1492
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Not Rett synd.-Unaffected family member	Female	1493
c.806delG	p.Gly269fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	1495
c.806delG	p.Gly269fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Not Rett synd.-X-linked mental retardation	Female	1497
c.806delG	p.Gly269fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	1498
c.1189G>A	p.Glu397Lys	Missense	C-term	Polymorphism not causing disease	Rett syndrome-Not certain	Female	1499
c.1189G>A	p.Glu397Lys	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	1500
c.1189G>A	p.Glu397Lys	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	1503
c.1282G>A	p.Gly428Ser	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	1530
c.1030C>T	p.Arg344Trp	Missense	C-term	Unknown	Not Rett synd.-Unaffected family member	Female	1533
c.590C>T	p.Thr197Met	Missense	Inter-domain region	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	1535
c.1196C>T	p.Pro399Leu	Missense	C-term	Polymorphism not causing disease	Rett syndrome-Not certain	Female	1536
c.1126C>T	p.Pro376Ser	Missense	C-term	Polymorphism not causing disease	Rett syndrome-Not certain	Female	1538
c.1216C>T	p.Gln406*	Nonsense	C-term	Mutation associated with disease	Not Rett synd.-Unaffected family member	Female	1544
c.1157_1188del32	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	1545
c.1157_1188del32	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Not Rett synd.-Unaffected family member	Female	1546
c.1282G>A	p.Gly428Ser	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	1550
c.1282G>A	p.Gly428Ser	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	1551
c.1282G>A	p.Gly428Ser	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	1552
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	1554
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Not Rett synd.-angelman syndrome	Female	1555
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Not Rett synd.-angelman syndrome	Female	1556
c.1233C>T	p.Ser411Ser	Silent	C-term	Silent polymorphism	Not Rett synd.-angelman syndrome	Female	1557
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-atypical	Female	1558
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-atypical	Female	1559
c.753delC	p.Gly252fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-classical	Female	1560
c.422dupA	p.Tyr141*	Frameshift insertion or deletion	MBD	Mutation associated with disease	Not Known	Female	1561
c.542C>T	p.Ala181Val	Missense	Inter-domain region	Unknown	Not Rett synd.-Unaffected family member	Female	1565
c.897C>T	p.Thr299Thr	Silent	TRD	Silent polymorphism	Not Rett synd.-autism only	Female	1566
c.[984C>T; 1161_1163del]	p.[Leu328Leu; Pro391del]	Silent, in-frame insertion or deletion	C-term	Polymorphism not causing disease	Not Rett synd.-autism only	Female	1567
c.[984C>T; 1161_1163del]	p.[Leu328Leu; Pro391del]	Silent, in-frame insertion or deletion	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	1568
c.[1126C>T];[1126C>T]	p.[Pro376Ser];[Pro376Ser]	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-autism only	Female	1571
c.1137C>T	p.Pro379Pro	Silent	C-term	Silent polymorphism	Not Rett synd.-autism only	Female	1572
c.1189G>A	p.Glu397Lys	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-autism only	Female	1573
c.582C>T	p.Ser194Ser	Silent	Inter-domain region	Silent polymorphism	Not Rett synd.-autism only	Female	1576
c.1205C>T	p.Pro402Leu	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	1579
c.1205C>T	p.Pro402Leu	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-autism only	Female	1581
c.1205C>T	p.Pro402Leu	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	1582
c.377+22C>G	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	1584
c.377+22C>G	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	1585
c.377+95G>A	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	1586
c.1315G>A	p.Ala439Thr	Missense	C-term	Unknown	Not Rett synd.-Unaffected family member	Female	1587
c.1189G>A	p.Glu397Lys	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	1589
c.897C>T	p.Thr299Thr	Silent	TRD	Silent polymorphism	Rett syndrome-Not certain	Female	1590
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1591
c.-156C>T	p.(=)	missense	N-term	Unknown	Rett syndrome-classical	Female	3864
c.834C>T	p.Ala278Ala	Silent	TRD	Silent polymorphism	Rett syndrome-Not certain	Female	1593
c.1164_1207del44	p.Pro389*	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1594
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1595
c.378-17delT	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Rett syndrome-Not certain	Female	1596
c.710delG	p.Gly237fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1598
c.602C>T	p.Ala201Val	Missense	Inter-domain region	Polymorphism not causing disease	Rett syndrome-Not certain	Female	1599
c.602C>T	p.Ala201Val	Missense	Inter-domain region	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	1600
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1601
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1602
c.[1125_1137del13; 1138_1263inv; 1158_1201del; 1263_1264insGGA]	p.Pro376fs	Frameshift combined insertion and deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1603
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1604
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1605
c.1157_1197del41	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1606
c.856_859delAAAG	p.Lys286fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1607
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1608
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1609
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1610
c.1164_1207del44	p.Pro389*	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1611
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1612
c.527C>G	p.Pro176Arg	Missense	Inter-domain region	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	1614
c.-160A>T	p.(=)	missense	N-term	Unknown	Rett syndrome-classical	Female	3865
c.917G>A	p.Arg306His	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1617
c.806delG	p.Gly269fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1618
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1619
c.898_904del7	p.Val300fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1620
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1621
c.469T>A	p.Phe157Ile	Missense	MBD	Unknown	Rett syndrome-Not certain	Female	1622
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1623
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1624
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1625
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1626
c.1071C>T	p.Ser357Ser	Silent	C-term	Silent polymorphism	Rett syndrome-Not certain	Female	1627
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1628
c.26+2T>A	intronic variation	Intronic variation	Intronic	Mutation associated with disease	Rett syndrome-Not certain	Female	1629
c.917G>A	p.Arg306His	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1630
c.401C>G	p.Ser134Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1631
c.683C>G	p.Thr228Ser	Missense	TRD	Polymorphism not causing disease	Rett syndrome-Not certain	Female	1632
c.750C>T	p.Arg250Arg	Silent	TRD	Silent polymorphism	Rett syndrome-Not certain	Female	1633
c.674C>G	p.Pro225Arg	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1634
c.1035A>G	p.Lys345Lys	Silent	C-term	Silent polymorphism	Rett syndrome-Not certain	Female	1635
c.905C>T	p.Pro302Leu	Missense	TRD	Unknown	Rett syndrome-Not certain	Female	1636
c.1441G>A	p.Val481Met	Missense	C-term	Unknown	Rett syndrome-Not certain	Female	1637
c.378-17delT	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Rett syndrome-Not certain	Female	1638
c.393C>G	p.Ala131Ala	Silent	MBD	Silent polymorphism	Rett syndrome-Not certain	Female	1639
c.428_429insT	p.Glu143fs	Frameshift insertion or deletion	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1641
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1642
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1643
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1644
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1645
c.378-17delT	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Rett syndrome-Not certain	Female	1646
c.378-17delT	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Rett syndrome-Not certain	Female	1647
c.298C>G	p.Leu100Val	Missense	MBD	Unknown	Rett syndrome-Not certain	Female	1648
c.840C>T	p.Ala280Ala	Silent	TRD	Silent polymorphism	Rett syndrome-Not certain	Female	1649
c.1340C>T	p.Ala447Val	Missense	C-term	Unknown	Rett syndrome-Not certain	Female	1650
c.674C>G	p.Pro225Arg	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1651
c.815C>T	p.Pro272Leu	Missense	TRD	Polymorphism not causing disease	Rett syndrome-Not certain	Female	1652
c.815C>T	p.Pro272Leu	Missense	TRD	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	1654
c.1126C>T	p.Pro376Ser	Missense	C-term	Polymorphism not causing disease	Rett syndrome-Not certain	Female	1655
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1656
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Not Known	Female	1660
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Not Known	Female	1661
c.1271_1416del146	p.Leu424fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	1662
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Not Known	Female	1663
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Not Known	Female	1664
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Not Known	Female	1665
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Not Known	Female	1666
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Not Known	Female	1667
c.753delC	p.Gly252fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Not Known	Female	1668
c.401C>G	p.Ser134Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	1669
c.1194_1195insT	p.Pro399fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	1670
c.764_765ins8	p.Arg255fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Not Known	Female	1671
c.401C>G	p.Ser134Cys	Missense	MBD	Mutation associated with disease	Not Rett synd.-Unaffected family member	Female	1672
c.529A>T	p.Lys177*	Nonsense	Inter-domain region	Mutation associated with disease	Not Known	Female	1674
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Not Known	Female	1675
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Not Known	Female	1676
c.378-2A>C	intronic variation	Intronic variation	Intronic	Mutation associated with disease	Not Known	Female	1677
c.46C>T	p.Gln16*	Nonsense	N-term	Mutation associated with disease	Not Known	Female	1678
c.523A>T	p.Lys175*	Nonsense	Inter-domain region	Mutation associated with disease	Not Known	Female	1679
c.806delG	p.Gly269fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Not Known	Female	1680
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Not Known	Female	1681
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Not Known	Female	1682
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Not Known	Female	1683
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Not Known	Female	1684
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Not Known	Female	1685
c.905C>T	p.Pro302Leu	Missense	TRD	Unknown	Not Known	Female	1686
c.301C>T	p.Pro101Ser	Missense	MBD	Unknown	Not Known	Female	1687
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Not Known	Female	1688
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	1689
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	1690
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Not Known	Female	1691
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Not Known	Female	1692
c.1164_1207del44	p.Pro389*	Frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	1693
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	1694
c.1105delC	p.His369fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	1695
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Not Known	Female	1696
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Not Known	Female	1697
c.1157_1200del44	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	1698
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Not Known	Female	1699
c.1461A>G	p.*487Trpext*27	Nonstop	C-term	Unknown	Not Known	Female	1700
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	1701
c.806delG	p.Gly269fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Not Known	Female	1702
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Not Known	Female	1703
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Not Known	Female	1704
c.377+22C>G	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Known	Female	1705
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Not Known	Female	1706
c.953A>C	p.Glu318Ala	Missense	C-term	Unknown	Rett syndrome-classical	Female	1707
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Not Known	Female	1708
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Not Known	Female	1709
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Not Known	Female	1710
c.1330_1342del13	p.Ala444fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	1711
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Not Known	Female	1712
c.229_238del10	p.Ala77fs	Frameshift insertion or deletion	N-term	Mutation associated with disease	Not Known	Female	1713
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Not Known	Female	1714
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Not Known	Female	1715
c.1338_1354del	p.Ala447fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	1716
c.1087A>T	p.Lys363*	Nonsense	C-term	Mutation associated with disease	Not Known	Female	1717
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	1718
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Not Known	Female	1719
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Not Known	Female	1720
c.1324_1364del41	p.Thr442fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	1721
c.807_*125del780	p.Arg270_Ser486delinsGln	In-frame insertion or deletion	TRD-NLS	Mutation associated with disease	Not Known	Female	1722
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Not Known	Female	1723
c.1126C>T	p.Pro376Ser	Missense	C-term	Polymorphism not causing disease	Not Known	Female	1724
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Not Known	Female	1725
c.611C>G	p.Ser204*	Nonsense	Inter-domain region	Mutation associated with disease	Not Known	Female	1726
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Not Known	Female	1727
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	1728
c.210C>T	p.Ser70Ser	Silent	N-term	Silent polymorphism	Not Known	Female	1729
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	1730
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	1731
c.194C>G	p.Ser65*	Nonsense	N-term	Mutation associated with disease	Not Known	Female	1732
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	1733
c.710delG	p.Gly237fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Not Known	Female	1734
c.819G>T	p.Gly273Gly	Silent	TRD	Silent polymorphism	Not Known	Female	1735
c.1129_1193del65	p.Lys377fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	1736
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Not Known	Female	1738
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	1739
c.401C>T	p.Ser134Phe	Missense	MBD	Unknown	Not Known	Female	1740
c.1157_1197del41	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	1741
c.1157_1191del35	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	1742
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Not Known	Female	1743
c.806delG	p.Gly269fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Not Known	Female	1744
c.1041_*29del450	p.Lys347_Ser486delins17	In-frame insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	1745
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Not Known	Female	1746
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	1747
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Not Known	Female	1748
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Not Known	Female	1749
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	1750
c.1157_1192del36	p.Leu386_Asp398delinsHis	In-frame insertion or deletion	C-term	Unknown	Not Known	Female	1751
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Not Known	Female	1752
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	1753
c.1157_1191del35	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	1754
c.146C>A	p.Ser49*	Nonsense	N-term	Mutation associated with disease	Not Known	Female	1755
c.1126C>T	p.Pro376Ser	Missense	C-term	Polymorphism not causing disease	Not Known	Female	1757
c.854dupA	p.Lys286fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Not Known	Female	1758
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	1759
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	1760
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Not Known	Female	1761
c.46C>T	p.Gln16*	Nonsense	N-term	Mutation associated with disease	Not Known	Female	1762
c.210C>T	p.Ser70Ser	Silent	N-term	Silent polymorphism	Not Known	Female	1763
c.455C>G	p.Pro152Arg	Missense	MBD	Mutation associated with disease	Not Known	Female	1764
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Not Known	Female	1765
c.249_250ins7	p.Arg84fs	Frameshift insertion or deletion	MBD	Mutation associated with disease	Not Known	Female	1766
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Not Known	Female	1767
c.1157_1197del41	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	1768
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	1769
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Not Known	Female	1770
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Not Known	Female	1772
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Not Known	Female	1773
c.651_652delTG	p.Gly218fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Not Known	Female	1774
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Not Known	Female	1775
c.1157_1191del35	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	1776
c.1115_1201del87	p.His372_Ser401delinsArg	In-frame insertion or deletion	C-term	Unknown	Not Known	Female	1777
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Not Known	Female	1778
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Not Known	Female	1779
c.1157_1191del35	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	1780
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Not Known	Female	1781
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Not Known	Female	1782
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Not Known	Female	1783
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	1784
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	1785
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	1786
c.715delG	p.Ala239fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Not Known	Female	1787
c.468C>G	p.Asp156Glu	Missense	MBD	Unknown	Not Known	Female	1788
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Not Known	Female	1789
c.760A>T	p.Lys254*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	1790
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	1791
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Not Known	Female	1792
c.455C>G	p.Pro152Arg	Missense	MBD	Mutation associated with disease	Not Known	Female	1793
c.710dupG	p.Gly238fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Not Known	Female	1795
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Not Known	Female	1796
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	1797
c.397C>G	p.Arg133Gly	Missense	MBD	Unknown	Not Known	Female	1798
c.864dupG	p.Lys289fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Not Known	Female	1799
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Not Known	Female	1800
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Not Known	Female	1801
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Not Known	Female	1802
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	1803
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	1804
c.401C>G	p.Ser134Cys	Missense	MBD	Mutation associated with disease	Not Known	Female	1805
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Not Known	Female	1806
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Not Known	Female	1807
c.897C>T	p.Thr299Thr	Silent	TRD	Silent polymorphism	Not Known	Female	1809
c.897C>T	p.Thr299Thr	Silent	TRD	Silent polymorphism	Not Known	Female	1810
c.582C>T	p.Ser194Ser	Silent	Inter-domain region	Silent polymorphism	Not Known	Female	1811
c.806delG	p.Gly269fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Not Known	Female	1812
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Not Known	Female	1813
c.1157_1191del35	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	1814
c.753delC	p.Gly252fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Not Known	Female	1815
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Not Known	Female	1816
c.-168-?_26+?del	p.Met1?	exon deletions	N-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1820
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1821
c.301C>T	p.Pro101Ser	Missense	MBD	Unknown	Rett syndrome-Not certain	Female	1822
c.897C>T	p.Thr299Thr	Silent	TRD	Silent polymorphism	Rett syndrome-Not certain	Female	1823
c.1265_1289del25insAGCGGCCG	p.Gly422fs	Frameshift combined insertion and deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1824
c.378-17delT	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Rett syndrome-Not certain	Female	1825
c.375C>A	p.Ile125Ile	Silent	MBD	Silent polymorphism	Rett syndrome-Not certain	Female	1826
c.917G>A	p.Arg306His	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1827
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1828
c.377+22C>G	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Rett syndrome-Not certain	Female	1829
c.[763C>T(;)1071C>T]	p.[Arg255*(;)Ser357Ser]	Nonsense, silent	TRD, C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1830
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1831
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1832
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1833
c.1157_1197del41	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1834
c.1189G>A	p.Glu397Lys	Missense	C-term	Polymorphism not causing disease	Rett syndrome-Not certain	Female	1835
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1836
c.1233C>T	p.Ser411Ser	Silent	C-term	Silent polymorphism	Rett syndrome-Not certain	Female	1838
c.470dupT	p.Thr158fs	Frameshift insertion or deletion	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1839
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1840
c.856_859delAAAG	p.Lys286fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1841
c.1160_1200del41	p.Pro387fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1842
c.806delG	p.Gly269fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1843
c.897C>T	p.Thr299Thr	Silent	TRD	Silent polymorphism	Rett syndrome-Not certain	Female	1844
c.[777C>T(;)1157_1197del41]	p.[Ala259Ala(;)Leu386fs]	Silent, frameshift insertion or deletion	TRD-NLS, C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1845
c.777C>T	p.Ala259Ala	Silent	TRD-NLS	Silent polymorphism	Not Rett synd.-Unaffected family member	Female	1846
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1847
c.1164_1207del44	p.Pro389*	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1848
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1849
c.608C>T	p.Thr203Met	Missense	Inter-domain region	Polymorphism not causing disease	Rett syndrome-Not certain	Female	1850
c.749G>A	p.Arg250His	Missense	TRD	Polymorphism not causing disease	Rett syndrome-Not certain	Female	1852
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1854
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1855
c.1161_1205del45insA	p.Pro389*	Frameshift combined insertion and deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1856
c.108_111delAGAA	p.Glu37fs	Frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1857
c.932C>T	p.Thr311Met	Missense	C-term	Unknown	Rett syndrome-Not certain	Female	1858
c.27-2A>G	intronic variation	Intronic variation	Intronic	Mutation associated with disease	Rett syndrome-Not certain	Female	1859
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1860
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1861
c.598A>T	p.Lys200*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1862
c.1123_1202del80	p.Ser375fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1863
c.378-?_*?del	p.Asn126fs	exon deletion	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1864
c.-168-?_26+?del	p.Met1?	exon deletions	N-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1865
c.748dupC	p.Arg250fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1866
c.897C>T	p.Thr299Thr	Silent	TRD	Silent polymorphism	Rett syndrome-Not certain	Female	1867
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1868
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1869
c.808delC	p.Arg270fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1870
c.710delG	p.Gly237fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1871
c.748_753del6insGGCCG	p.Arg250fs	Frameshift combined insertion and deletion	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1872
c.611_612delinsAG	p.Ser204*	frameshift combined insertion and deletion	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1873
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1874
c.[609G>A(;)905C>T]	p.[Thr203Thr(;)Pro302Leu]	Silent, missense	Inter-domain region, TRD	Unknown	Rett syndrome-Not certain	Female	1875
c.108_111delAGAA	p.Glu37fs	Frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1876
c.297C>G	p.Thr99Thr	Silent	MBD	Silent polymorphism	Rett syndrome-Not certain	Female	1877
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1878
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1879
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1880
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1881
c.317G>A	p.Arg106Gln	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1882
c.317G>A	p.Arg106Gln	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1883
c.341G>C	p.Gly114Ala	Missense	MBD	Unknown	Rett syndrome-Not certain	Female	1884
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1886
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1887
c.483delG	p.Arg162fs	Frameshift insertion or deletion	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1888
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1889
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1890
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1892
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1893
c.777C>T	p.Ala259Ala	Silent	TRD-NLS	Silent polymorphism	Rett syndrome-Not certain	Female	1894
c.792_793delTC	p.Pro265fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1895
c.806delG	p.Gly269fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1896
c.806delG	p.Gly269fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1897
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1898
c.819G>T	p.Gly273Gly	Silent	TRD	Silent polymorphism	Rett syndrome-Not certain	Female	1899
c.843C>T	p.Ala281Ala	Silent	TRD	Silent polymorphism	Rett syndrome-Not certain	Female	1900
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1901
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1902
c.881G>C	p.Arg294Pro	Missense	TRD	Polymorphism not causing disease	Rett syndrome-Not certain	Female	1903
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1905
c.917G>A	p.Arg306His	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	1906
c.1012_1193del182	p.Thr338fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1907
c.1189G>A	p.Glu397Lys	Missense	C-term	Polymorphism not causing disease	Rett syndrome-Not certain	Female	1909
c.1189G>A	p.Glu397Lys	Missense	C-term	Polymorphism not causing disease	Rett syndrome-Not certain	Female	1910
c.1266C>T	p.Gly422Gly	Silent	C-term	Silent polymorphism	Rett syndrome-Not certain	Female	1911
c.1446C>T	p.Thr482Thr	Silent	C-term	Silent polymorphism	Rett syndrome-Not certain	Female	1912
c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Rett syndrome-Not certain	Female	1913
c.*122delT	3'UTR variation	3'UTR variation	3'UTR	Unknown	Rett syndrome-Not certain	Female	1915
c.-167_-99del	p.(=)	frameshift insertion or deletion	N-term	Unknown	Rett syndrome-Not certain	Female	1916
c.378-?_*?del	p.Asn126fs	exon deletion	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	1917
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1918
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-Not certain	Female	1919
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-atypical	Female	1920
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-atypical	Female	1921
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	1922
c.315dupA	p.Arg106fs	Frameshift insertion or deletion	MBD	Mutation associated with disease	Rett syndrome-classical	Female	1923
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	1924
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	1925
c.806delG	p.Gly269fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-atypical	Female	1926
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	1927
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-atypical	Female	1928
c.917G>A	p.Arg306His	Missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	1929
c.739delG	p.Val247fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-classical	Female	1930
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	1931
c.299T>G	p.Leu100Arg	Missense	MBD	Unknown	Rett syndrome-classical	Female	1932
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	1933
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	1934
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	1935
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-atypical	Female	1936
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	1937
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	1938
c.472A>G	p.Thr158Ala	Missense	MBD	Unknown	Rett syndrome-classical	Female	1939
c.1163_1188del26	p.Pro388fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	1940
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	1941
c.482G>T	p.Gly161Val	Missense	MBD	Unknown	Rett syndrome-atypical	Female	1942
c.611C>G	p.Ser204*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-atypical	Female	1943
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	1944
c.953A>C	p.Glu318Ala	Missense	C-term	Unknown	Rett syndrome-atypical	Female	1945
c.298C>G	p.Leu100Val	Missense	MBD	Unknown	Rett syndrome-atypical	Female	1946
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	1947
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	1948
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-atypical	Female	1949
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	1950
c.755delG	p.Gly252fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-atypical	Female	1951
c.695delG	p.Gly232fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-atypical	Female	1952
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	1953
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-atypical	Female	1954
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	1955
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	1956
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	1957
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	1958
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-atypical	Female	1959
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-atypical	Female	1960
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	1961
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	1962
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	1963
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-atypical	Female	1964
c.806delG	p.Gly269fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	1965
c.-168-?_*?del	p.Met1?	Frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-Classical	Female	1980
c.419C>T	p.Ala140Val	Missense	MBD	Unknown	Not Rett synd.-Unaffected family member	Female	1967
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	1968
c.567dupA	p.Arg190fs	Frameshift insertion or deletion	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	1969
c.567dupA	p.Arg190fs	Frameshift insertion or deletion	Inter-domain region	Mutation associated with disease	Not Known	Female	1970
c.-168-?_*?dup	p.Met1?	In-frame insertion or deletion	N-term	Unknown	Not Rett synd.-Unaffected family member	Female	1972
c.-168-?_*?dup	p.Met1?	In-frame insertion or deletion	N-term	Unknown	Not Rett synd.-Unaffected family member	Female	1985
c.-168-?_*?dup	p.Met1?	In-frame insertion or deletion	N-term	Unknown	Not Rett synd.-Unaffected family member	Female	1986
c.-168-?_*?dup	p.Met1?	In-frame insertion or deletion	N-term	Unknown	Not Rett synd.-Unaffected family member	Female	1989
c.-168-?_*?dup	p.Met1?	In-frame insertion or deletion	N-term	Unknown	Not Rett synd.-Unaffected family member	Female	1990
c.-168-?_*?dup	p.Met1?	In-frame insertion or deletion	N-term	Unknown	Not Rett synd.-Unaffected family member	Female	1991
c.-168-?_*?dup	p.Met1?	In-frame insertion or deletion	N-term	Unknown	Not Rett synd.-Unaffected family member	Female	1994
c.-168-?_*?dup	p.Met1?	In-frame insertion or deletion	N-term	Unknown	Not Rett synd.-Unaffected family member	Female	1995
c.-168-?_*?dup	p.Met1?	In-frame insertion or deletion	N-term	Unknown	Not Rett synd.-Unaffected family member	Female	1996
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Not Rett synd.-Sporadic mental retardation	Female	1998
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	1999
c.1135_1142delCCCGTGCC	p.Pro379fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Not Rett synd.-Sporadic mental retardation	Female	2000
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Not Known	Female	2001
c.[992_994delAGA; 1029delG; 1061G>T; 1167_1200del34]	p.[Lys331del; Arg344fs]	In-frame insertion or deletion, frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	2002
c.-116_-114dupAGG	p.(=)	In-frame insertion or deletion	N-term	Polymorphism not causing disease	Not Known	Female	2004
c.-116_-114dupAGG	p.(=)	In-frame insertion or deletion	N-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	2005
c.897C>T	p.Thr299Thr	Silent	TRD	Silent polymorphism	Not Known	Female	2007
c.1157_1200del44	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	2008
c.806delG	p.Gly269fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Not Known	Female	2010
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Not Known	Female	2011
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Not Known	Female	2012
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Not Known	Female	2013
c.1157_1197del41	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	2014
c.910A>G	p.Lys304Glu	Missense	TRD	Unknown	Not Known	Female	2015
c.1324A>G	p.Thr442Ala	Missense	C-term	Unknown	Not Known	Female	2016
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Not Known	Female	2017
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	2018
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Not Known	Female	2019
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	2020
c.1155_1200del46	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	2021
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Not Known	Female	2022
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Not Known	Female	2023
c.378-17delT	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Known	Female	2024
c.[397C>T(;)1061G>T]	p.[Arg133Cys(;)Arg354Leu]	Missense	MBD, C-term	Mutation associated with disease	Not Known	Female	2025
c.1189G>A	p.Glu397Lys	Missense	C-term	Polymorphism not causing disease	Not Known	Female	2026
c.378-17delT	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Known	Female	2027
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Not Known	Female	2028
c.[377+22C>G; 378-74C>T]	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Known	Female	2029
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	2031
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Not Known	Female	2032
c.317G>A	p.Arg106Gln	Missense	MBD	Mutation associated with disease	Not Known	Female	2033
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	2034
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Not Known	Female	2035
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Not Known	Female	2036
c.582C>T	p.Ser194Ser	Silent	Inter-domain region	Silent polymorphism	Not Known	Female	2037
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Not Known	Female	2038
c.1189G>A	p.Glu397Lys	Missense	C-term	Polymorphism not causing disease	Not Known	Female	2039
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Not Known	Female	2040
c.[880C>T(;)*9G>A]	"p.Arg294*, 3'UTR variation"	Nonsense, 3'UTR variation	TRD, 3'UTR	Mutation associated with disease	Not Known	Female	2041
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	2042
c.843C>T	p.Ala281Ala	Silent	TRD	Silent polymorphism	Not Known	Female	2043
c.582C>T	p.Ser194Ser	Silent	Inter-domain region	Silent polymorphism	Not Known	Female	2044
c.[377+22C>G(;)378-74C>T]	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Known	Female	2045
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Not Known	Female	2046
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	2048
c.1168_1173del6	p.Pro390_Pro391del	In-frame insertion or deletion	C-term	Polymorphism not causing disease	Not Known	Female	2049
c.1163_1179del17	p.Pro388fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	2050
c.378-17delT	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Known	Female	2051
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	2052
c.[378-74C>T;602C>T];[378-74C>T]	p.[Ala201Val];[=]	Intronic variation, missense	Intronic, inter-domain region	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	2053
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Not Known	Female	2054
c.[1189G>A(;)*55C>G]	"p.Glu397Lys, 3'UTR variation"	Missense, 3'UTR variation	C-term, 3'UTR	Polymorphism not causing disease	Not Known	Female	2055
c.378-74C>T	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Known	Female	2056
c.378-74C>T	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Known	Female	2057
c.479C>G	p.Thr160Ser	Missense	MBD	Unknown	Not Known	Female	2058
c.897C>T	p.Thr299Thr	Silent	TRD	Silent polymorphism	Not Known	Female	2059
c.1239C>T	p.Cys413Cys	Silent	C-term	Silent polymorphism	Not Known	Female	2061
c.378-17delT	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Known	Female	2063
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Not Known	Female	2064
c.362A>G	p.Asp121Gly	Missense	MBD	Unknown	Not Known	Female	2065
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Not Known	Female	2066
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Not Known	Female	2067
c.464T>G	p.Phe155Cys	Missense	MBD	Unknown	Rett syndrome-Atypical	Female	2069
complex rearrangement	complex rearrangement	Not known	Not known	Unknown	Rett syndrome-Classical	Female	2070
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-Classical	Female	2071
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-Classical	Female	2072
c.-168-?_26+?del	p.Met1?	exon deletions	N-term	Mutation associated with disease	Rett syndrome-Classical	Female	2073
c.-167_-99del	p.(=)	frameshift insertion or deletion	N-term	Unknown	Rett syndrome-Atypical	Female	2074
c.-168-?_26+?del	p.Met1?	exon deletions	N-term	Mutation associated with disease	Rett syndrome-Atypical	Female	2075
c.-168-?_26+?del	p.Met1?	exon deletions	N-term	Mutation associated with disease	Rett syndrome-Classical	Female	2076
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-Atypical	Female	2077
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-Classical	Female	2078
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-Classical	Female	2079
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-Classical	Female	2080
c.27-?_(378_1461)del	p.Arg9fs	Frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-Classical	Female	2081
c.27-?_(378_1461)del	p.Arg9fs	Frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-Classical	Female	2082
c.(378_1461)_(378_1461)del	p.(Asn126+Ser486)fs	Frameshift insertion or deletion	Not known	Mutation associated with disease	Rett syndrome-Classical	Female	2083
c.(378_1461)_(378_1461)del	p.(Asn126+Ser486)fs	Frameshift insertion or deletion	Not known	Mutation associated with disease	Rett syndrome-Classical	Female	2084
c.(378_1461)_(378_1461)del	p.(Asn126+Ser486)fs	Frameshift insertion or deletion	Not known	Mutation associated with disease	Rett syndrome-Atypical	Female	2085
c.(378_1461)_(378_1461)del	p.(Asn126+Ser486)fs	Frameshift insertion or deletion	Not known	Mutation associated with disease	Rett syndrome-Classical	Female	2086
c.(378_1461)_(378_1461)del	p.(Asn126+Ser486)fs	Frameshift insertion or deletion	Not known	Mutation associated with disease	Rett syndrome-Not certain	Female	2087
[c.897C>T (+) c.(378_1461)_(378_1461)del]	[p.Thr299Thr (+) p.(Asn126+Ser486)fs]	Frameshift insertion or deletion	Not known	Mutation associated with disease	Rett syndrome-Classical	Female	2088
c.897C>T	p.Thr299Thr	Silent	TRD	Silent polymorphism	Not Rett synd.-Unaffected family member	Female	2089
c.481_987del507ins8	p.Gly161fs	frameshift combined insertion and deletion	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2090
c.617delG	p.Gly206fs	Frameshift insertion or deletion	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2091
c.695delG	p.Gly232fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2092
c.710delG	p.Gly237fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2093
c.753delC	p.Gly252fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2094
c.806delG	p.Gly269fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2095
c.806delG	p.Gly269fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	2096
c.806delG	p.Gly269fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2097
c.1097_1203del107	p.His366fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	2098
c.1116_1201del86	p.His372fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	2099
c.126dupG	p.His43fs	Frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-Atypical	Female	2100
c.27-9A>G	intronic variation	Intronic variation	Intronic	Unknown	Rett syndrome-Classical	Female	2101
c.378-3C>G	intronic variation	Intronic variation	Intronic	Mutation associated with disease	Rett syndrome-Classical	Female	2102
c.654_657delGAAG	p.Lys219fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2103
c.856_859delAAAG	p.Lys286fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Atypical	Female	2104
c.865A>T	p.Lys289*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2105
c.1087A>T	p.Lys363*	Nonsense	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	2106
c.1157_1200del44	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Atypical	Female	2107
c.1157_1200del44	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	2108
c.1157_1200del44	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Atypical	Female	2109
c.1157_1200del44	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	2110
c.1157_1200del44	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Atypical	Female	2111
c.1157_1200del44	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Atypical	Female	2112
c.1157_1197del41	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	2113
c.1157_1197del41	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	2114
c.1157_1188del32	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	2115
c.1157_1188del32	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Atypical	Female	2116
c.1223_1265del43	p.Leu408fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Atypical	Female	2117
c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Known	Female	2118
c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	2119
c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Known	Female	2120
c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	2121
c.897C>T	p.Thr299Thr	Silent	TRD	Silent polymorphism	Rett syndrome-Atypical	Female	2122
c.608C>T	p.Thr203Met	Missense	Inter-domain region	Polymorphism not causing disease	Not Known	Female	2123
c.590C>T	p.Thr197Met	Missense	Inter-domain region	Polymorphism not causing disease	Not Known	Female	2124
c.1229G>A	p.Ser410Asn	Missense	C-term	Unknown	Rett syndrome-Classical	Female	2125
c.1126C>T	p.Pro376Ser	Missense	C-term	Polymorphism not causing disease	Not Known	Female	2126
c.815C>T	p.Pro272Leu	Missense	TRD	Polymorphism not causing disease	Rett syndrome-Atypical	Female	2127
c.690A>C	p.Pro230Pro	Silent	TRD	Silent polymorphism	Not Known	Female	2128
c.1189G>A	p.Glu397Lys	Missense	C-term	Polymorphism not causing disease	Not Known	Female	2130
c.948C>G	p.Val316Val	Silent	C-term	Silent polymorphism	Not Known	Female	2131
c.720C>T	p.Thr240Thr	Silent	TRD	Silent polymorphism	Not Known	Female	2132
c.633G>C	p.Arg211Ser	Missense	TRD	Polymorphism not causing disease	Rett syndrome-Classical	Female	2134
c.585C>T	p.Gly195Gly	Silent	Inter-domain region	Silent polymorphism	Not Known	Female	2136
c.386G>T	p.Gly129Val	Missense	MBD	Unknown	Not Known	Female	2137
c.277C>T	p.Pro93Ser	Missense	MBD	Unknown	Rett syndrome-Classical	Female	2138
c.155A>G	p.His52Arg	Missense	N-term	Unknown	Not Rett synd.-not certain	Female	2141
c.1372C>T	p.Arg458Cys	Missense	C-term	Polymorphism not causing disease	Not Known	Female	2143
c.1315G>A	p.Ala439Thr	Missense	C-term	Unknown	Not Known	Female	2145
c.1315G>A	p.Ala439Thr	Missense	C-term	Unknown	Not Known	Female	2146
c.1234G>A	p.Val412Ile	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	2148
c.1215C>T	p.Pro405Pro	Silent	C-term	Silent polymorphism	Not Rett synd.-not certain	Female	2149
c.1215C>T	p.Pro405Pro	Silent	C-term	Silent polymorphism	Not Rett synd.-Unaffected family member	Female	2150
c.1081C>G	p.Pro361Ala	Missense	C-term	Unknown	Not Known	Female	2154
c.1081C>G	p.Pro361Ala	Missense	C-term	Unknown	Not Rett synd.-Unaffected family member	Female	2155
c.1081C>G	p.Pro361Ala	Missense	C-term	Unknown	Not Rett synd.-Unaffected family member	Female	2157
c.1035A>G	p.Lys345Lys	Silent	C-term	Silent polymorphism	Not Known	Female	2158
c.474G>A	p.Thr158Thr	Silent	MBD	Silent polymorphism	Not Known	Female	2160
c.-143_-138dup	p.(=)	In-frame insertion or deletion	N-term	Polymorphism not causing disease	Rett syndrome-Atypical	Female	2162
c.-140_-138dup3	p.(=)	In-frame insertion or deletion	N-term	Unknown	Not Known	Female	2163
c.1330G>A	p.Ala444Thr	Missense	C-term	Polymorphism not causing disease	Rett syndrome-Atypical	Female	2164
c.302C>A	p.Pro101His	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2167
c.302C>T	p.Pro101Leu	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2168
c.301C>T	p.Pro101Ser	Missense	MBD	Unknown	Rett syndrome-Atypical	Female	2169
c.455C>G	p.Pro152Arg	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2170
c.455C>G	p.Pro152Arg	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2171
c.455C>G	p.Pro152Arg	Missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	2172
c.674C>G	p.Pro225Arg	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2173
c.905C>T	p.Pro302Leu	Missense	TRD	Unknown	Rett syndrome-Classical	Female	2174
c.905C>G	p.Pro302Arg	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	2175
c.905C>G	p.Pro302Arg	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	2176
c.964C>G	p.Pro322Ala	Missense	C-term	Unknown	Rett syndrome-Not certain	Female	2177
c.965C>T	p.Pro322Leu	Missense	C-term	Unknown	Rett syndrome-Classical	Female	2178
c.1052_1200del149	p.Pro351fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Atypical	Female	2179
c.1154_1197del44	p.Pro385fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	2180
c.1152_1195del44	p.Pro385fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	2181
c.1152_1155del4	p.Pro385fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Atypical	Female	2182
c.1162_1179del18	p.Pro388_Pro393del	In-frame insertion or deletion	C-term	Polymorphism not causing disease	Rett syndrome-Atypical	Female	2183
c.1164_1207del44	p.Pro389*	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	2184
c.1164_1207del44	p.Pro389*	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	2185
c.1164_1207del44	p.Pro389*	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Atypical	Female	2186
c.1164_1207del44	p.Pro389*	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Atypical	Female	2187
c.1164_1207del44	p.Pro389*	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Atypical	Female	2188
c.1164_1207del44	p.Pro389*	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Atypical	Female	2189
c.1164_1207del44	p.Pro389*	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	2190
c.1168_1173del6	p.Pro390_Pro391del	In-frame insertion or deletion	C-term	Polymorphism not causing disease	Rett syndrome-Not certain	Female	2191
c.730C>T	p.Gln244*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2192
c.730C>T	p.Gln244*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2193
c.316C>G	p.Arg106Gly	Missense	MBD	Unknown	Rett syndrome-Classical	Female	2194
c.316C>G	p.Arg106Gly	Missense	MBD	Unknown	Not Rett synd.-Unaffected family member	Female	2195
c.316C>G	p.Arg106Gly	Missense	MBD	Unknown	Rett syndrome-Atypical	Female	2196
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2197
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	2198
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2199
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2200
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2201
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	2202
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2203
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	2204
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	2205
c.[316C>T(;)917G>T(;)1061G>A]	p.[Arg106Trp(;)Arg306Leu(;)Arg354His]	Missense	MBD, TRD, C-term	Mutation associated with disease	Rett syndrome-Not certain	Female	2206
c.1061G>A	p.Arg354His	Missense	C-term	Unknown	Not Rett synd.-Unaffected family member	Female	2207
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2208
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	2209
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2210
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	2211
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	2212
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	2213
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Not Rett synd.-Unaffected family member	Female	2214
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2215
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	2216
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	2217
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2218
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	2219
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2221
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2222
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2223
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2224
c.[397C>T; 1164_1207del44]	p.[Arg133Cys; Pro389*]	Missense, frameshift insertion or deletion	MBD, C-term	Mutation associated with disease	Rett syndrome-Atypical	Female	2225
c.398G>A	p.Arg133His	Missense	MBD	Unknown	Rett syndrome-Classical	Female	2226
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2227
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Atypical	Female	2228
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2229
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	2230
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2231
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Female	2232
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Atypical	Female	2233
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2234
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2235
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2236
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Atypical	Female	2237
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2238
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2239
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2240
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Atypical	Female	2241
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2242
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Atypical	Female	2243
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2244
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2245
c.[502C>T(;)897C>T]	p.[Arg168*(;)Thr299Thr]	Nonsense, silent	Inter-domain region, TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2246
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2247
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2248
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Atypical	Female	2249
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2250
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Atypical	Female	2251
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2252
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2253
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2254
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Atypical	Female	2255
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2256
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2257
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2258
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2259
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2260
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2261
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2262
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	2263
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2264
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	2265
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	2266
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2267
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2268
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2269
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2270
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2271
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2272
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	2273
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2274
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2275
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	2276
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	2277
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2278
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2279
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2280
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2281
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2282
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2283
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Atypical	Female	2284
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2285
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2286
c.808delC	p.Arg270fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2287
c.808delC	p.Arg270fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2288
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2289
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2290
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2291
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2292
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	2293
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Atypical	Female	2294
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2295
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2296
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Female	2297
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2298
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Atypical	Female	2299
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2300
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2301
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2302
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2303
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2304
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2305
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Atypical	Female	2306
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2307
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2308
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Atypical	Female	2309
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2310
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2311
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	2312
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Atypical	Female	2313
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2314
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	2315
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2316
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2317
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2318
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2319
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2320
c.917G>A	p.Arg306His	Missense	TRD	Mutation associated with disease	Rett syndrome-Atypical	Female	2321
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	2322
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2323
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	2324
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Atypical	Female	2325
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2326
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	2327
c.917G>A	p.Arg306His	Missense	TRD	Mutation associated with disease	Rett syndrome-Atypical	Female	2328
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Female	2329
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Atypical	Female	2330
c.917G>A	p.Arg306His	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2331
c.917G>A	p.Arg306His	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2332
c.401C>G	p.Ser134Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2333
c.401C>G	p.Ser134Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2334
c.994_1346del353	p.Ser332fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	2335
c.994_998delAGCGG	p.Ser332fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Atypical	Female	2336
Not known	p.Ser373*	Nonsense	C-term	Mutation associated with disease	Rett syndrome-Atypical	Female	2337
c.146C>A	p.Ser49*	Nonsense	N-term	Mutation associated with disease	Rett syndrome-Atypical	Female	2338
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2339
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2340
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2341
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	2342
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	2343
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2345
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	2346
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	2347
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2348
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2349
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2350
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	2351
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2352
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2353
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Female	2354
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	2355
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2356
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2357
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2358
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	2359
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2360
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2361
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2362
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2363
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2364
c.91delG	p.Val31*	Frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-Classical	Female	2365
c.311_323del13	p.Trp104fs	Frameshift insertion or deletion	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	2366
c.311G>A	p.Trp104*	Nonsense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2367
c.587C>G	p.Thr196Ser	Missense	Inter-domain region	Polymorphism not causing disease	Not Rett synd.-Schizophrenia	Female	2368
c.1127C>G	p.Pro376Arg	Missense	C-term	Unknown	Not Rett synd.-autism only	Female	2369
c.*177G>C	3'UTR variation	3'UTR variation	3'UTR	Unknown	Not Rett synd.-autism only	Female	2371
c.*177G>C	3'UTR variation	3'UTR variation	3'UTR	Unknown	Not Rett synd.-Unaffected family member	Female	2372
c.*5348T>C	3'UTR variation	3'UTR variation	3'UTR	Unknown	Not Rett synd.-Unaffected family member	Female	2374
c.897C>T	p.Thr299Thr	Silent	TRD	Silent polymorphism	Not Rett synd.-autism only	Female	2376
c.1035A>G	p.Lys345Lys	Silent	C-term	Silent polymorphism	Not Rett synd.-Schizophrenia	Female	2377
c.1233C>T	p.Ser411Ser	Silent	C-term	Silent polymorphism	Not Rett synd.-Phobia	Female	2379
c.377+22C>G	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Rett synd.-Phobia	Female	2384
c.1357C>T	p.Arg453*	Nonsense	C-term	Mutation associated with disease	Rett syndrome-Preserved speech	Female	2388
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Preserved speech	Female	2389
c.[1202G>A];[1202G>A]	p.[Ser401Asn];[Ser401Asn]	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-autism only	Female	2390
c.1202G>A	p.Ser401Asn	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	2392
c.1202G>A	p.Ser401Asn	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	2393
c.1202G>A	p.Ser401Asn	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Female	2394
c.720C>G	p.Thr240Thr	Silent	TRD	Silent polymorphism	Not Rett synd.-autism only	Female	2395
c.720C>G	p.Thr240Thr	Silent	TRD	Silent polymorphism	Not Rett synd.-Unaffected family member	Female	2396
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2397
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2398
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2399
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2400
c.582C>T	p.Ser194Ser	Silent	Inter-domain region	Silent polymorphism	Rett syndrome-Congenital onset	Female	2401
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2402
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2403
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Preserved speech	Female	2404
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2405
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Congenital onset	Female	2406
c.455C>G	p.Pro152Arg	Missense	MBD	Mutation associated with disease	Rett syndrome-Preserved speech	Female	2407
c.914A>G	p.Lys305Arg	Missense	TRD	Unknown	Rett syndrome-Classical	Female	2408
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2409
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2410
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2411
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2412
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Preserved speech	Female	2413
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2414
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Forme fruste	Female	2415
c.423C>G	p.Tyr141*	Nonsense	MBD	Mutation associated with disease	Rett syndrome-Preserved speech	Female	2416
c.1197C>T	p.Pro399Pro	Silent	C-term	Silent polymorphism	Rett syndrome-Classical	Female	2417
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Congenital onset	Female	2418
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Forme fruste	Female	2419
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2420
c.666C>G	p.Val222Val	Silent	TRD	Silent polymorphism	Rett syndrome-Preserved speech	Female	2421
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Preserved speech	Female	2422
c.455C>G	p.Pro152Arg	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2423
c.965C>T	p.Pro322Leu	Missense	C-term	Unknown	Rett syndrome-Classical	Female	2424
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2425
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Congenital onset	Female	2426
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2427
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2428
c.674C>T	p.Pro225Leu	Missense	TRD	Unknown	Rett syndrome-Classical	Female	2429
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2430
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2431
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2432
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2433
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2434
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2435
c.317G>A	p.Arg106Gln	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2436
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2437
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2438
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2439
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2440
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2441
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2442
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Congenital onset	Female	2443
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2444
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2445
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2446
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Preserved speech	Female	2447
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2448
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2449
c.905C>G	p.Pro302Arg	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2450
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2451
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2452
c.[763C>T(;)1233C>T]	p.[Arg255*(;)Ser411Ser]	Nonsense, silent	TRD, C-term	Mutation associated with disease	Rett syndrome-Classical	Female	2453
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2454
c.[502C>T(;)750C>A]	p.[Arg168*(;)Arg250Arg]	Nonsense, silent	Inter-domain region, TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2455
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2456
c.380C>T	p.Pro127Leu	Missense	MBD	Unknown	Rett syndrome-Classical	Female	2457
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Congenital onset	Female	2458
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2459
c.[710G>T(;)763C>T]	p.[Gly237Val(;)Arg255*]	missense, nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2460
c.455C>G	p.Pro152Arg	Missense	MBD	Mutation associated with disease	Rett syndrome-Congenital onset	Female	2461
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2462
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2463
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2464
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2465
c.905C>G	p.Pro302Arg	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2466
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2467
c.455C>G	p.Pro152Arg	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2468
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2469
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Preserved speech	Female	2470
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2471
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2472
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2473
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Preserved speech	Female	2474
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2475
c.1163C>T	p.Pro388Leu	Missense	C-term	Unknown	Rett syndrome-Forme fruste	Female	2476
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Forme fruste	Female	2477
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Congenital onset	Female	2478
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2479
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2480
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2481
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2482
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2483
c.317G>T	p.Arg106Leu	Missense	MBD	Unknown	Rett syndrome-Classical	Female	2484
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Congenital onset	Female	2485
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2486
c.1164_1207del44	p.Pro389*	Frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	2487
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Not Known	Female	2488
c.674C>G	p.Pro225Arg	Missense	TRD	Mutation associated with disease	Not Known	Female	2489
c.1216C>T	p.Gln406*	Nonsense	C-term	Mutation associated with disease	Not Rett synd.-Sporadic mental retardation	Female	2490
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Not Rett synd.-Angelman syndrome	Female	2491
c.1126C>T	p.Pro376Ser	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Sporadic mental retardation	Female	2493
c.*36G>C	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Angelman syndrome	Female	2494
c.1126C>T	p.Pro376Ser	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Angelman syndrome	Female	2495
c.-131delinsGA	p.(=)	frameshift combined insertion and deletion	N-term	Mutation associated with disease	Rett syndrome-Classical	Female	2497
c.-168-?_26+?del	p.Met1?	exon deletions	N-term	Mutation associated with disease	Rett syndrome-Classical	Female	2498
c.(378_1461)_(378_1461)del	p.(Asn126+Ser486)fs	Frameshift insertion or deletion	Not known	Mutation associated with disease	Rett syndrome-Atypical	Female	2499
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-Atypical	Female	2500
c.856_859delAAAG	p.Lys286fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2501
c.426C>T	p.Phe142Phe	Silent	MBD	Silent polymorphism	Not Rett synd.-Unaffected family member	Female	2505
c.426C>T	p.Phe142Phe	Silent	MBD	Silent polymorphism	Not Rett synd.-Unaffected family member	Female	2506
c.378-17delT	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Rett synd.-Sporadic mental retardation	Female	2517
c.378-17delT	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Rett synd.-Sporadic mental retardation	Female	2518
c.422A>G	p.Tyr141Cys	Missense	MBD	Unknown	Rett syndrome-Atypical	Female	2519
c.897C>T	p.Thr299Thr	Silent	TRD	Silent polymorphism	Not Rett synd.-Sporadic mental retardation	Female	2521
c.1189G>A	p.Glu397Lys	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Sporadic mental retardation	Female	2522
c.1189G>A	p.Glu397Lys	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Sporadic mental retardation	Female	2523
c.1206C>T	p.Pro402Pro	Silent	C-term	Silent polymorphism	Not Rett synd.-Sporadic mental retardation	Female	2524
c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Sporadic mental retardation	Female	2527
c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Sporadic mental retardation	Female	2528
c.964C>T	p.Pro322Ser	Missense	C-term	Unknown	Not Rett synd.-Borderline low IQ	Female	2530
c.27-12521_*5072del19784	p.Arg9fs	Frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-Classical	Female	2531
c.26+25171_13878del50531ins14 (exons 3 and 4 deleted)	p.Arg9fs	Frameshift combined insertion and deletion	N-term	Mutation associated with disease	Rett syndrome-Classical	Female	2532
c.1023_*14472del14911	p.Ser341fs	In-frame insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	2533
c.-168-?_26+?del	p.Met1?	exon deletions	N-term	Mutation associated with disease	Rett syndrome-Classical	Female	2534
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-Classical	Female	2535
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-Classical	Female	2536
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-Classical	Female	2537
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	2539
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	2540
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	2541
c.651_652delTG	p.Gly218fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	2542
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	2543
c.[1132_1159del28;1167_1176del10];[1132_1159del28;1167_1176del10]	p.[Ala378fs];[Ala378fs]	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	2544
c.[1148_1177del30];[1148_1177del30]	p.[Leu383_Glu392del];[Leu383_Glu392del]	inframe insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	2545
c.1284C>T	p.Gly428Gly	silent	C-term	Silent polymorphism	Rett syndrome-classical	Female	3816
c.-206_-205delGC	p.(=)	5'UTR variation	5'UTR	Unknown	Not Rett synd.-non-specific mental retardation	Female	2551
c.-187_-186delAG	p.(=)	5'UTR variation	5'UTR	Unknown	Not Rett synd.-non-specific mental retardation	Female	2552
c.-187_-186delinsTT	p.(=)	5'UTR variation	5'UTR	Unknown	Not Rett synd.-non-specific mental retardation	Female	2553
c.-146_-138dup9	p.(=)	in-frame insertion or deletion	N-term	Unknown	Not Rett synd.-non-specific mental retardation	Female	2554
c.-146_-138dup9	p.(=)	in-frame insertion or deletion	N-term	Unknown	Not Rett synd.-non-specific mental retardation	Female	2555
c.-143_-138del6	p.(=)	in-frame insertion or deletion	N-term	Unknown	Not Rett synd.-non-specific mental retardation	Female	2556
c.-116_-114dupAGG	p.(=)	in-frame insertion or deletion	N-term	Polymorphism not causing disease	Not Rett synd.-non-specific mental retardation	Female	2557
c.-116_-114dupAGG	p.(=)	in-frame insertion or deletion	N-term	Polymorphism not causing disease	Not Rett synd.-non-specific mental retardation	Female	2558
c.-116_-114dupAGG	p.(=)	in-frame insertion or deletion	N-term	Polymorphism not causing disease	Not Rett synd.-non-specific mental retardation	Female	2559
c.-116_-114dupAGG	p.(=)	in-frame insertion or deletion	N-term	Polymorphism not causing disease	Not Rett synd.-non-specific mental retardation	Female	2560
c.-116_-114dupAGG	p.(=)	in-frame insertion or deletion	N-term	Polymorphism not causing disease	Not Rett synd.-non-specific mental retardation	Female	2561
c.-116_-114dupAGG	p.(=)	in-frame insertion or deletion	N-term	Polymorphism not causing disease	Not Rett synd.-non-specific mental retardation	Female	2562
c.-112G>A	p.(=)	missense	N-term	Unknown	Not Rett synd.-non-specific mental retardation	Female	2563
c.189_190delGA	p.Glu63fs	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-Classical	Female	2564
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2565
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2566
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2567
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2568
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2569
c.323T>A	p.Leu108His	missense	MBD	Unknown	Rett syndrome-Classical	Female	2570
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2571
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2572
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2573
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2574
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2575
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2576
c.401C>G	p.Ser134Cys	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2577
c.403A>G	p.Lys135Glu	missense	MBD	Unknown	Rett syndrome-Classical	Female	2578
c.423C>G	p.Tyr141*	nonsense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2579
c.430A>T	p.Lys144*	nonsense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2580
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2581
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2582
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2583
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2584
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2585
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2586
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2587
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2588
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2589
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2590
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2591
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	2592
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2593
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2594
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2595
c.611C>G	p.Ser204*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	2596
c.674C>G	p.Pro225Arg	missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2597
c.753dupC	p.Gly252fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2598
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2599
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2600
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2601
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2602
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2603
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2604
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2605
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2606
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2607
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	2608
c.816_832del17	p.Gly273fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2609
c.856_859delAAAG	p.Lys286fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2610
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2611
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2612
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2613
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2614
c.904C>T	p.Pro302Ser	missense	TRD	Unknown	Rett syndrome-Classical	Female	2615
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2616
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2617
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2618
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2619
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	2620
c.[1063_1188del126; 1189_1231inv; 1232_1236del5]	p.Ser355fs	frameshift insertion or deletion	c-term	Mutation associated with disease	Rett syndrome-Classical	Female	2621
c.1069_1071delAGC	p.Ser357del	in-frame insertion or deletion	c-term	Mutation associated with disease	Rett syndrome-Classical	Female	2622
c.1116_1201del86	p.His372fs	frameshift insertion or deletion	c-term	Mutation associated with disease	Rett syndrome-Classical	Female	2623
c.1157_1197del41	p.Leu386fs	frameshift insertion or deletion	c-term	Mutation associated with disease	Rett syndrome-Classical	Female	2624
c.1157_1200del44	p.Leu386fs	frameshift insertion or deletion	c-term	Mutation associated with disease	Rett syndrome-Classical	Female	2625
c.1162C>T	p.Pro388Ser	missense	c-term	Unknown	Rett syndrome-Classical	Female	2626
c.1164_1207del44	p.Pro389*	frameshift insertion or deletion	c-term	Mutation associated with disease	Rett syndrome-Classical	Female	2627
c.1164_1207del44	p.Pro389*	frameshift insertion or deletion	c-term	Mutation associated with disease	Rett syndrome-Classical	Female	2628
c.1164_1207del44	p.Pro389*	frameshift insertion or deletion	c-term	Mutation associated with disease	Rett syndrome-Classical	Female	2629
c.377+22C>G	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Rett syndrome-Classical	Female	2630
c.377+22C>G	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Rett syndrome-Classical	Female	2631
c.587C>G	p.Thr196Ser	missense	inter-domain region	Polymorphism not causing disease	Rett syndrome-Classical	Female	2632
c.686C>T	p.Ser229Leu	missense	TRD	Polymorphism not causing disease	Rett syndrome-Classical	Female	2633
c.815C>T	p.Pro272Leu	missense	TRD	Polymorphism not causing disease	Rett syndrome-Classical	Female	2634
c.819G>T	p.Gly273Gly	silent	TRD	Silent polymorphism	Rett syndrome-Classical	Female	2635
c.1161C>T	p.Pro387Pro	silent	C-term	Silent polymorphism	Rett syndrome-Classical	Female	2636
c.1335G>A	p.Thr445Thr	silent	c-term	Silent polymorphism	Rett syndrome-Classical	Female	2637
c.*92C>T	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Rett syndrome-Classical	Female	2638
c.*328G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Rett syndrome-Classical	Female	2639
c.*328G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Rett syndrome-Classical	Female	2640
c.*359G>C	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Rett syndrome-Classical	Female	2641
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Rett syndrome-Classical	Female	2642
c.*363G>C	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Rett syndrome-Classical	Female	2643
c.27-?_*8554+?del (deletion of exons 3 and 4)	p.Arg9fs	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-Classical	Female	2644
c.1101_1396+?del (deletion of exon 4 near stop codon)	p.His367fs	frameshift insertion or deletion	c-term	Mutation associated with disease	Rett syndrome-Classical	Female	2645
c.289G>T	p.Asp97Tyr	missense	MBD	Unknown	Rett syndrome-not certain	Female	2646
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-preserved speech	Female	2647
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	2648
c.1162_1163delinsTA	p.Pro388*	frameshift combined insertion and deletion	C-term	Mutation associated with disease	Not Rett synd.-sporadic mental retardation	Female	2659
c.679C>G	p.Gln227Glu	missense	TRD	Unknown	Not Rett synd.-sporadic mental retardation	Female	2660
c.*2706G>A	3'UTR variation	3'UTR variation	3'UTR	Unknown	Not Rett synd.-Autism	Female	2708
c.-116_-114dupAGG	p.(=)	in-frame insertion or deletion	N-term	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Female	3915
c.-113_-106dup	p.(=)	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-classical	Female	2756
c.-99+2_-99+3delTG	intronic variant	intronic variation	intronic	Mutation associated with disease	Rett syndrome-classical	Female	2757
c.-143_-138dup	p.(=)	in-frame insertion or deletion	N-term	Polymorphism not causing disease	Rett syndrome-atypical	Female	2758
c.-167_-99del	p.(=)	large deletion	N-term	Mutation associated with disease	Rett syndrome-classical	Female	2759
c.-168-?_26+?del	p.Met1?	large deletion	N-term	Mutation associated with disease	Rett syndrome-classical	Female	2760
c.-168-?_26+?del	p.Met1?	large deletion	N-term	Mutation associated with disease	Rett syndrome-classical	Female	2761
c.-168-?_*?del	p.Met1?	large deletion	N-term	Mutation associated with disease	Rett syndrome-classical	Female	2762
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	2769
c.1157_1197del41	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	2770
c.547G>C	p.Gly183Arg	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-mental retardation	Female	2771
c.582C>T	p.Ser194Ser	silent	inter-domain region	Silent polymorphism	Not Rett synd.-non-specfic mental retardation	Female	2772
c.948C>G	p.Val316Val	silent	C-term	Silent polymorphism	Not Rett synd.-mental retardation	Female	2773
c.1189G>A	p.Glu397Lys	missense	C-term	Polymorphism not causing disease	Not Rett synd.-non-specfic mental retardation	Female	2774
c.1206C>T	p.Pro402Pro	silent	C-term	Silent polymorphism	Not Rett synd.-mental retardation	Female	2775
c.1266C>T	p.Gly422Gly	silent	C-term	Silent polymorphism	Not Rett synd.-non-specfic mental retardation	Female	2776
c.1315G>A	p.Ala439Thr	missense	C-term	Unknown	Not Rett synd.-mental retardation	Female	2777
c.1330G>A	p.Ala444Thr	missense	C-term	Polymorphism not causing disease	Not Rett synd.-mental retardation	Female	2778
c.1335G>A	p.Thr445Thr	silent	C-term	Silent polymorphism	Not Rett synd.-non-specfic mental retardation	Female	2779
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-non-specfic mental retardation	Female	2780
c.-102_-101delGA	p.(=)	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-classical	Female	2781
c.27-?_1337+?del	p.Arg9fs	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-classical	Female	2782
c.-168-?_26+?del	p.Met1?	exon deletions	N-term	Mutation associated with disease	Rett syndrome-classical	Female	2783
c.27-?_1337+?del	p.Arg9fs	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-classical	Female	2784
c.27-?_1185+?del	p.Arg9fs	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-classical	Female	2785
c.378-?_1337+?del	p.Asn126fs	exon deletion	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2786
c.27-?_1337+?del	p.Arg9fs	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-classical	Female	2787
c.378-?_1185+?del	p.Asn126fs	exon deletion	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2788
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-classical	Female	2789
c.1336-?_*?del	p.?	frameshift insertion or deletion	N-term/MBD/interdomain/TRD/NLS/C-term	Mutation associated with disease	Rett syndrome-classical	Female	2790
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-classical	Female	2791
c.378-?_1337+?del	p.Asn126fs	exon deletion	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2792
c.808delC	p.Arg270fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	2797
c.808delC	p.Arg270fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	2798
c.-99+2_-99+3delTG	intronic variant	intronic variation	intronic	Mutation associated with disease	Rett syndrome-classical	Female	2800
c.-114_-104del11	p.(=)	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-atypical	Female	2801
c.-138_-134dupCGCCG	p.(=)	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-classical	Female	2802
c.-114_-104del11	p.(=)	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-classical	Female	2803
c.298C>G	p.Leu100Val	missense	MBD	Unknown	Rett syndrome-classical	Female	2804
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2805
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2806
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2807
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2808
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2809
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2810
c.[26+22C>G(;)468C>G]	"intronic variation, p.Asp156Glu"	missense	MBD	Unknown	Rett syndrome-classical	Female	2811
c.482G>A	p.Gly161Glu	missense	MBD	Unknown	Rett syndrome-classical	Female	2812
c.602C>T	p.Ala201Val	missense	inter-domain region	Polymorphism not causing disease	Rett syndrome-classical	Female	2813
c.[426C>T(;)916C>T]	p.[Phe142Phe(;)Arg306Cys]	silent, missense	MBD, TRD	Mutation associated with disease	Rett syndrome-classical	Female	2814
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2815
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2816
c.932C>T	p.Thr311Met	missense	C-term	Unknown	Rett syndrome-classical	Female	2817
c.965C>T	p.Pro322Leu	missense	C-term	Unknown	Rett syndrome-classical	Female	2818
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	2819
c.[502C>T(;)1326C>T]	p.[Arg168*(;)Thr442Thr]	nonsense, silent	inter-domain region, C-term	Mutation associated with disease	Rett syndrome-classical	Female	2820
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2821
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2822
c.[26+22C>G(;) 808C>T]	p.Arg270*	intronic variation, nonsense	intronic, TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	2823
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	2824
c.[808C>T(;) 1326C>T]	p.[Arg270*(;) Thr442Thr]	nonsense, silent	TRD-NLS, C-term	Mutation associated with disease	Rett syndrome-classical	Female	2825
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	2826
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	2827
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2828
c.1154_1197del44	p.Pro385fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	2829
c.1326C>T	p.Thr442Thr	silent	C-term	Silent polymorphism	Rett syndrome-classical	Female	2830
c.[26+22C>G(;) 808C>T]	p.Arg270*	intronic variation, nonsense	intronic variation, TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	2831
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2852
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2853
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2854
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2855
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2856
c.1162C>T	p.Pro388Ser	missense	C-term	Unknown	Rett syndrome-congenital onset	Female	2857
c.1126C>T	p.Pro376Ser	missense	C-term	Polymorphism not causing disease	Rett syndrome-classical	Female	2858
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2859
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2860
c.808delC	p.Arg270fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	2861
c.1157_1197del41	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-preserved speech	Female	2862
c.1157_1200del44	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-preserved speech	Female	2863
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2864
c.36G>C	p.Lys12Asn	missense	N-term	Polymorphism not causing disease	Rett syndrome-not certain	Female	2865
c.28G>C	p.Glu10Gln	missense	N-term	Unknown	Rett syndrome-forme fruste	Female	2866
c.383A>C	p.Gln128Pro	missense	MBD	Unknown	Rett syndrome-late regression	Female	2867
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-forme fruste	Female	2868
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-forme fruste	Female	2869
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-forme fruste	Female	2870
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2871
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2872
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-forme fruste	Female	2873
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2874
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-forme fruste	Female	2875
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2876
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2877
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2878
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2879
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2880
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2881
c.830delC	p.Ala277fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2882
c.1164_1208del45	p.Pro389_Pro403del	in-frame insertion or deletion	C-term	Unknown	Rett syndrome-congenital onset	Female	2883
c.1164_1207del44	p.Pro389*	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-preserved speech	Female	2884
c.1164_1207del44	p.Pro389*	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-forme fruste	Female	2885
c.1151_1191del41	p.Pro384fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-preserved speech	Female	2886
c.734_759del26	p.Val245fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2887
c.756_763dup	p.Arg255fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2888
c.799A>T	p.Lys267*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	2889
c.898_901del	p.Val300fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2890
c.1168_1173del6	p.Pro390_Pro391del	in-frame insertion or deletion	C-term	Polymorphism not causing disease	Rett syndrome-atypical	Female	2891
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2892
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2893
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2894
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	2895
c.710dupG	p.Gly238fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2896
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2897
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2898
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2899
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	2900
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2901
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2902
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2903
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-classical	Female	2904
c.27-6215_1190del8136 (Deletion of exon 3 and part of exon 4)	p.Arg9fs	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-classical	Female	2905
c.[27-5690_1208del7628ins42];[439G>A]	p.[Arg9fs];[Asp147Asn]	frameshift combined insertion and deletion, missense	N-term, MBD	Mutation associated with disease	Rett syndrome-classical	Female	2906
c.1-?_26+?del (Deletion of exons 1 and 2)	p.Met1?	frameshift insertion of deletion	N-term	Mutation associated with disease	Rett syndrome-classical	Female	2907
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-classical	Female	2908
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-classical	Female	2909
c.1157_1197del41	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Not Rett synd.-autism only	Female	2910
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Not Rett synd.-autism only	Female	2911
c.-143_-138dup	p.(=)	in-frame insertion or deletion	N-term	Polymorphism not causing disease	Rett syndrome-classical	Female	2912
AY523575.1:g.1029dupC	5'UTR variation	5'UTR variation	5'UTR	Polymorphism not causing disease	Rett syndrome-classcial	Female	2913
AY523575.1:g.1029dupC	5'UTR variation	5'UTR variation	5'UTR	Polymorphism not causing disease	Rett syndrome-atypical	Female	2914
AY523575.1:g.1029dupC	5'UTR variation	5'UTR variation	5'UTR	Polymorphism not causing disease	Rett syndrome-atypical	Female	2915
c.-114_-104del11	p.(=)	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-atypical	Female	2916
c.-114_-104del11	p.(=)	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	2928
c.-167_-99del	p.(=)	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	2929
c.215dupC	p.Ala73fs	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-classical	Female	2930
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2931
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2932
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2933
c.403A>G	p.Lys135Glu	missense	MBD	Unknown	Rett syndrome-classical	Female	2934
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2935
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2936
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2937
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	2938
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	2939
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2940
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	2941
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	2942
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	2943
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2944
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2945
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2946
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2947
c.964C>G	p.Pro322Ala	missense	C-term	Unknown	Rett syndrome-classical	Female	2948
c.1057_1219del163	p.Gly353fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	2949
c.1154_1197del44	p.Pro385fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	2950
c.1162_1191del30	p.Pro388_Glu397del	in-frame insertion or deletion	C-term	Unknown	Rett syndrome-classical	Female	2951
c.1160_1180del21	p.Pro387_Glu394delinsGln	in-frame insertion or deletion	C-term	Unknown	Rett syndrome-classical	Female	2952
c.1194_1195insT	p.Pro399fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	2953
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-atypical	Female	2954
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-atypical	Female	2955
c.422A>G	p.Tyr141Cys	missense	MBD	Unknown	Rett syndrome-atypical	Female	2956
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-atypical	Female	2957
c.452A>G	p.Asp151Gly	missense	MBD	Unknown	Rett syndrome-atypical	Female	2958
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-atypical	Female	2959
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-atypical	Female	2960
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-atypical	Female	2961
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-atypical	Female	2962
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-atypical	Female	2963
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-atypical	Female	2964
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-atypical	Female	2965
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-atypical	Female	2966
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-atypical	Female	2967
c.808delC	p.Arg270fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-atypical	Female	2968
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-atypical	Female	2969
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-atypical	Female	2970
c.1157_1197del41	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-atypical	Female	2971
c.1157_1197del41	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-atypical	Female	2972
c.1157_1188del32	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-atypical	Female	2973
c.27-2A>G	intronic variation	intronic variation	N-term	Mutation associated with disease	Rett syndrome-atypical	Female	2974
c.-98-?_377+?del (deletion of exons 2 and 3)	p.Met1?	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-atypical	Female	2975
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Not Rett synd.-	Female	2976
c.909C>G	p.Ile303Met	missense	TRD	Unknown	Not Rett synd.-	Female	2977
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	2978
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	2979
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	2980
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2981
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2982
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	2983
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2984
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	2985
c.401C>T	p.Ser134Phe	missense	MBD	Unknown	Rett syndrome-classical	Female	2986
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2987
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2988
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2989
c.836C>T	p.Ala279Val	missense	TRD	Unknown	Rett syndrome-classical	Female	2990
c.836C>T	p.Ala279Val	missense	TRD	Unknown	Rett syndrome-classical	Female	2991
c.836C>T	p.Ala279Val	missense	TRD	Unknown	Rett syndrome-classical	Female	2992
c.[834C>T(;) 965C>T]	p.[Ala278Ala(;) Pro322Leu]	silent, missense	TRD, C-term	Unknown	Rett syndrome-classical	Female	2993
c.753C>T	p.Pro251Pro	silent	TRD	Silent polymorphism	Rett syndrome-classical	Female	2994
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2995
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2996
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2997
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2998
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	2999
c.674C>G	p.Pro225Arg	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3000
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3001
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3002
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	3003
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	3004
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3005
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3006
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	3007
c.874_875insA	p.Ser292fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3008
c.1154_1197del44	p.Pro385fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	3009
c.[1158_1167del10; 1173_1188del16]	p.Pro387Hisfs*9	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	3010
c.1164_1207del44	p.Pro389*	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	3011
c.1141C>G	p.Pro381Ala	missense	C-term	Polymorphism not causing disease	Rett syndrome-classical	Female	3012
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	3013
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3014
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3015
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3016
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3017
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3018
c.140dupA	p.Pro48fs	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-classical	Female	3035
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3036
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3037
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3038
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3039
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	3040
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3041
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3042
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	3043
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3044
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3045
c.1157_1197del41	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	3046
c.1157_1197del41	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	3047
c.[1451G>C];[*98dupA]	p.[Arg484Thr];[=]	missense, 3'UTR	C-term, 3'UTR	Polymorphism not causing disease	Rett syndrome-classical	Female	3048
c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Rett syndrome-classical	Female	3049
c.423C>G	p.Tyr141*	nonsense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3050
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3051
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3052
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3053
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3054
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3055
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3056
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3057
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3058
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3059
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3060
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3061
c.1163_1188del26	p.Pro388fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3062
c.1157_1197del41	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3063
c.1157_1200del44	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3064
c.1164_1207del44	p.Pro389*	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3065
c.1164_1207del44	p.Pro389*	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3066
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3067
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3068
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3069
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3070
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3071
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3072
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3073
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3074
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3075
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3076
c.1189G>A	p.Glu397Lys	missense	C-term	Polymorphism not causing disease	Rett syndrome-not certain	Female	3077
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3078
c.401C>G	p.Ser134Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3079
c.904C>G	p.Pro302Ala	missense	TRD	Unknown	Rett syndrome-not certain	Female	3080
c.602C>T	p.Ala201Val	missense	inter-domain region	Polymorphism not causing disease	Rett syndrome-not certain	Female	3081
c.[=/473C>T];[473C>T]	p.[=/Thr158Met];[Thr158Met]	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3082
c.291C>A	p.Asp97Glu	missense	MBD	Unknown	Rett syndrome-not certain	Female	3083
c.317G>A	p.Arg106Gln	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3084
c.317G>A	p.Arg106Gln	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3085
c.317G>A	p.Arg106Gln	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3086
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3087
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3088
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3089
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3090
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3091
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3092
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3093
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3094
c.316C>G	p.Arg106Gly	missense	MBD	Unknown	Rett syndrome-not certain	Female	3095
c.380C>T	p.Pro127Leu	missense	MBD	Unknown	Rett syndrome-not certain	Female	3096
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3097
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3098
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3099
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3100
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3101
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3102
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3103
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3104
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3105
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3106
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3107
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3108
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3109
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3110
c.398G>A	p.Arg133His	missense	MBD	Unknown	Rett syndrome-not certain	Female	3111
c.403A>G	p.Lys135Glu	missense	MBD	Unknown	Rett syndrome-not certain	Female	3112
c.422A>G	p.Tyr141Cys	missense	MBD	Unknown	Rett syndrome-not certain	Female	3113
c.422A>G	p.Tyr141Cys	missense	MBD	Unknown	Rett syndrome-not certain	Female	3114
c.422A>G	p.Tyr141Cys	missense	MBD	Unknown	Rett syndrome-not certain	Female	3115
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3116
c.468C>G	p.Asp156Glu	missense	MBD	Unknown	Rett syndrome-not certain	Female	3117
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3118
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3119
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3120
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3121
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3122
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3123
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3124
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3125
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3126
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3127
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3128
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3129
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3130
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3131
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3132
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3133
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3134
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3135
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3136
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3137
c.674C>G	p.Pro225Arg	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3138
c.674C>G	p.Pro225Arg	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3139
c.904C>G	p.Pro302Ala	missense	TRD	Unknown	Rett syndrome-not certain	Female	3140
c.908T>G	p.Ile303Ser	missense	TRD	Unknown	Rett syndrome-not certain	Female	3141
c.910A>G	p.Lys304Glu	missense	TRD	Unknown	Rett syndrome-not certain	Female	3142
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3143
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3144
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3145
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3146
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3147
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3148
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3149
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3150
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3151
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3152
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3153
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3154
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3155
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3156
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3157
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3158
c.917G>A	p.Arg306His	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3159
c.917G>A	p.Arg306His	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3160
c.917G>A	p.Arg306His	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3161
c.917G>A	p.Arg306His	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3162
c.964C>G	p.Pro322Ala	missense	C-term	Unknown	Rett syndrome-not certain	Female	3163
c.964C>G	p.Pro322Ala	missense	C-term	Unknown	Rett syndrome-not certain	Female	3164
c.965C>T	p.Pro322Leu	missense	C-term	Unknown	Rett syndrome-not certain	Female	3165
c.982C>G	p.Leu328Val	missense	C-term	Unknown	Rett syndrome-not certain	Female	3166
c.1133C>T	p.Ala378Val	missense	C-term	Polymorphism not causing disease	Rett syndrome-not certain	Female	3167
c.28G>T	p.Glu10*	nonsense	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	3168
c.382C>T	p.Gln128*	nonsense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3169
c.413T>A	p.Leu138*	nonsense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3170
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3171
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3172
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3173
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3174
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3175
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3176
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3177
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3178
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3179
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3180
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3181
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3182
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3183
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3184
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3185
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3186
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3187
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3188
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3189
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3190
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3191
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3192
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3193
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3194
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3195
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3196
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3197
c.508C>T	p.Gln170*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3198
c.538A>T	p.Lys180*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3199
c.592A>T	p.Arg198*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3200
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3201
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3202
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3203
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3204
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3205
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3206
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3207
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3208
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3209
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3210
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3211
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3212
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3213
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3214
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3215
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3216
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3217
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3218
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3219
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3220
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3221
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3222
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3223
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3224
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3225
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3226
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3227
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3228
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3229
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3230
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3231
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3232
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3233
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3234
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3235
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3236
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3237
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3238
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3239
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3240
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3241
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3242
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3243
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3244
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3245
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3246
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3247
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3248
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3249
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3250
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3251
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3252
c.1-?dup	p.Met1?	large duplication	N-term	Unknown	Rett syndrome-not certain	Female	3253
c.1-?_26+?dup	p.Met1?	large duplication	N-term	Unknown	Rett syndrome-not certain	Female	3254
c.107_113del7	p.Lys36fs	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	3255
c.117dupA	p.Glu40fs	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	3256
c.215_216insT	p.Ala73fs	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	3257
c.382_1189del808	p.Gln128fs	frameshift insertion or deletion	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3258
c.475delG	p.Val159*	frameshift insertion or deletion	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3259
c.480delT	p.Arg162fs	frameshift insertion or deletion	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3260
c.488_1189del702	p.Gly163_Ser396del	in-frame insertion or deletion	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3261
c.608_609insA	p.Ser204fs	frameshift insertion or deletion	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3262
c.676_677insA	p.Phe226fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3263
c.676_677insA	p.Phe226fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3264
c.696delC	p.Lys233fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3265
c.711_1269del559	p.Gly238fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3266
c.748_749insT	p.Arg250fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3267
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3268
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3269
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3270
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3271
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3272
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3273
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3274
c.808delC	p.Arg270fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3275
c.822_1184del363	p.Val275_Ser396del	in-frame insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3276
c.830_831ins23	p.Ala277fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3277
c.851_1188del338	p.Lys284fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3278
c.856_859delAAAG	p.Lys286fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3279
c.865_866delAA	p.Lys289fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3280
c.883delT	p.Ser295fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3281
c.898delG	p.Val300fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3282
c.906delC	p.Ile303fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3283
c.1009_1027del19	p.Lys337fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3284
c.1046_1206del161	p.Ser349fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3285
c.1078_*2524del2908	p.Ser360fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3286
c.1105_1225del121	p.His369fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3287
c.[1105_1116del12; 1152_1195del44]	p.[His369_His372del; Pro385fs]	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3288
c.1127_1137del11	p.Pro376fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3289
c.1127_1137del11	p.Pro376fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3290
c.1129_*568delinsCCGTGG	p.Lys377fs	frameshift combined insertion and deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3291
c.1157_1197del41	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3292
c.1155_1200del46	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3293
c.1155_1183del29	p.Pro387fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3294
c.[1159_1174del16; 1205_1432del228]	p.Pro387fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3295
c.1156_1172del17	p.Leu386*	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3296
c.1157_1188del32	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3297
c.1156_1197del42	p.Leu386_Pro399del	in-frame insertion or deletion	C-term	Unknown	Rett syndrome-not certain	Female	3298
c.1156_1197del42	p.Leu386_Pro399del	in-frame insertion or deletion	C-term	Unknown	Rett syndrome-not certain	Female	3299
c.1156_1197del42	p.Leu386_Pro399del	in-frame insertion or deletion	C-term	Unknown	Rett syndrome-not certain	Female	3300
c.1157_1199del43	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3301
c.1156_1157dupCT	p.Pro387fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3302
c.1158_1167del10	p.Pro387fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3303
c.1157_1188del32	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3304
c.1157_1197del41	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3305
c.1157_1197del41	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3306
c.1157_1200del44	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3307
c.1157_1200del44	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3308
c.1157_*944del1249	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3309
c.1158_1200del43	p.Pro387fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3310
c.1163_1197del35	p.Pro388fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3311
c.1159_1458del300	p.Pro387*	in-frame insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3312
c.1159_1160ins300	p.Pro387_Pro388ins100	in-frame insertion or deletion	C-term	Unknown	Rett syndrome-not certain	Female	3313
c.1162_1191del30	p.Pro388_Glu397del	in-frame insertion or deletion	C-term	Unknown	Rett syndrome-not certain	Female	3314
c.1164_1207del44	p.Pro389*	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3315
c.1163_1179del17	p.Pro388fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3316
c.1163_1188del26	p.Pro388fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3317
c.1165_1190del26	p.Pro389fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3318
c.1164delA	p.Pro389fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3319
c.1165_1190del26	p.Pro389fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3320
c.[1197_1237inv; 1238_1266del]	p.Thr400fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3321
c.1202dupG	p.Ser401fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3322
c.[1317_*623delins22; *796_*822del]	p.Ala439fs	frameshift combined insertion and deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3323
c.1454_1457del4	p.Val485fs	frameshift insertion or deletion	C-term	Unknown	Rett syndrome-not certain	Female	3324
c.378-?_*?del	p.Asn126fs	exon deletion	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3325
c.378-?_*?del	p.Asn126fs	exon deletion	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3326
c.378-?_*?del	p.Asn126fs	exon deletion	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3327
c.378-?_*?del	p.Asn126fs	exon deletion	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3328
c.378-?_*?del	p.Asn126fs	exon deletion	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3329
c.378-?_*?del	p.Asn126fs	exon deletion	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3330
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	3331
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	3332
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	3333
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	3334
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	3335
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	3336
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	3337
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	3338
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	3339
c.27-96_1205del (deletion of exon 3 and 4)	p.Arg9fs	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	3340
c.[1004_1037del; 1051_1054del; 1059_1072del; 1161_*2598del]	p.Gly335fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3341
c.27-4722_*739delins43	p.Arg9fs	frameshift combined insertion and deletion	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	3342
c.27-4722_*112delinsCACTTTGTG	p.Arg9fs	frameshift combined insertion and deletion	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	3343
c.27-6026_1190delinsGT (deletion of exons 3 and 4)	p.Arg9fs	frameshift combined insertion and deletion	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	3344
c.27-3928_1184del (deletion of exons 3 and 4)	p.Arg9fs	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	3345
c.[945_1025conNM_004992.3:c.1196_1252; 1136_*8554+2526del]	p.Val316fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3346
c.[27-5862_1132del; 1157_1197del]	p.Arg9fs	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	3347
c.[27-5944_1132del; 1157_1197del]	p.Arg9fs	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	3348
c.27-5774_902delinsGTGCCCGGACTGATGTCA (deletion of exon 3 and part of exon 4)	p.Arg9fs	frameshift combined insertion and deletion	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	3349
c.27-?_377+?del (exon 3 deletion)	p.Arg9_Asn126delinsSer	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	3350
c.378-?_*?del	p.Asn126fs	exon deletion	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3351
c.378-?_*?del	p.Asn126fs	exon deletion	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3352
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	3353
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3354
c.856_859delAAAG	p.Lys286fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3355
c.[1129_1133delAAGGCinsGAGT; 1155_1200del46]	p.Lys377fs	frameshift combined insertion and deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3356
c.1157_1188del32	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3357
c.1145_1194del50	p.Leu382fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	3358
c.1157_1200del44	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	3359
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	3360
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3361
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3362
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3363
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3364
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3365
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-forme fruste	Female	3366
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	3367
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	3368
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	3369
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3370
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3371
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3372
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3373
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3374
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3375
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-forme fruste	Female	3376
c.423C>G	p.Tyr141*	nonsense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3377
c.423C>G	p.Tyr141*	nonsense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3378
c.1163_1188del26	p.Pro388fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-forme fruste	Female	3379
c.766_779dup14	p.Asp260fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	3380
c.905C>T	p.Pro302Leu	missense	TRD	Unknown	Rett syndrome-classical	Female	3381
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3382
c.76delC	p.Leu26fs	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-classical	Female	3383
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3384
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3385
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3386
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3387
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3388
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-preserved speech	Female	3389
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3390
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3391
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3392
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-preserved speech	Female	3393
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-preserved speech	Female	3394
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3395
c.372G>C	p.Leu124Phe	missense	MBD	Unknown	Rett syndrome-classical	Female	3396
c.401C>G	p.Ser134Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3397
c.905C>G	p.Pro302Arg	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3398
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3399
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	3400
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	3401
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	3402
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3403
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3404
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-preserved speech	Female	3405
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	3406
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	3407
c.508C>T	p.Gln170*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	3408
c.695delG	p.Gly232fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3409
c.1197dupC	p.Thr400fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	3410
c.808delC	p.Arg270fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	3411
c.470_471delTC	p.Phe157fs	frameshift insertion or deletion	MBD	Mutation associated with disease	Rett syndrome-preserved speech	Female	3412
c.[1043_1056del14; 1061_1074del14; 1104_1106del3; 1138_1163del26; 1178_1185del8]	p.Glu348fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3413
c.[1051_1065del15; 1088_1115del28; 1138_1207del70]	p.[Pro351_Ser355del; Lys363fs]	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3414
c.1164_1206del43	p.Pro389fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3415
c.1158_1198del41	p.Pro387fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3416
c.1158_1198del41	p.Pro387fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3417
c.317G>A	p.Arg106Gln	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3418
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3419
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3420
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3421
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3422
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3423
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3424
c.316C>G	p.Arg106Gly	missense	MBD	Unknown	Rett syndrome-not certain	Female	3425
c.380C>T	p.Pro127Leu	missense	MBD	Unknown	Rett syndrome-not certain	Female	3426
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3427
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3428
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3429
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3430
c.397C>G	p.Arg133Gly	missense	MBD	Unknown	Rett syndrome-not certain	Female	3431
c.398G>A	p.Arg133His	missense	MBD	Unknown	Rett syndrome-not certain	Female	3432
c.403A>G	p.Lys135Glu	missense	MBD	Unknown	Rett syndrome-not certain	Female	3433
c.452A>G	p.Asp151Gly	missense	MBD	Unknown	Rett syndrome-not certain	Female	3434
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3435
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3436
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3437
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3438
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3439
c.468C>G	p.Asp156Glu	missense	MBD	Unknown	Rett syndrome-not certain	Female	3440
c.468C>G	p.Asp156Glu	missense	MBD	Unknown	Rett syndrome-not certain	Female	3441
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3442
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3443
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3444
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3445
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3446
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3447
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3448
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3449
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3450
c.674C>G	p.Pro225Arg	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3451
c.905C>T	p.Pro302Leu	missense	TRD	Unknown	Rett syndrome-not certain	Female	3452
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3453
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3454
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3455
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3456
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3457
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3458
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3459
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3460
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3461
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3463
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3464
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3465
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3466
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3467
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3468
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3469
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3470
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3471
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3472
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3473
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3474
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3475
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3476
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3477
c.508C>T	p.Gln170*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3478
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3479
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3480
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3481
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3482
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3483
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3484
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3485
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3486
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3487
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3488
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3489
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3490
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3491
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3492
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3493
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3494
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3495
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3496
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3497
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3498
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3499
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3500
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3501
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3502
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3503
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3504
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3505
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3506
c.1057_1219del163	p.Gly353fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3507
c.1154_1197del44	p.Pro385fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3508
c.1157_1188del32	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3509
c.1157_1187del31	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3510
c.1157_1197del41	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3511
c.1157_1197del41	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3512
c.1160_1180del21	p.Pro387_Glu394delinsGln	frameshift insertion or deletion	C-term	Unknown	Rett syndrome-not certain	Female	3513
c.310T>C	p.Trp104Arg	missense	MBD	Unknown	Rett syndrome-not certain	Female	3514
c.590C>T	p.Thr197Met	missense	inter-domain region	Polymorphism not causing disease	Rett syndrome-not certain	Female	3515
c.602C>T	p.Ala201Val	missense	inter-domain region	Polymorphism not causing disease	Rett syndrome-not certain	Female	3516
c.1075T>C	p.Ser359Pro	missense	C-term	Polymorphism not causing disease	Rett syndrome-not certain	Female	3517
c.[641_653del13; 711_1309del599]	p.Glu214_Gln437delinsGlySerSerLeuSerArgCysLeuPheLysLeuArgGlnGlyAlaArgLeuArgGlyGlu	in-frame insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3518
c.894_1095del202	p.Glu298fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3519
c.1127_1179del53	p.Pro376fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3520
c.1048_1095del48	p.Ser350_Glu365del	in-frame insertion or deletion	C-term	Unknown	Rett syndrome-not certain	Female	3521
c.1196_1266del71	p.Pro399fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3522
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3523
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3524
c.317G>A	p.Arg106Gln	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3525
c.364G>A	p.Val122Met	missense	MBD	Unknown	Rett syndrome-not certain	Female	3526
c.[380C>T];[380C>T]	p.[Pro127Leu];[Pro127Leu]	missense	MBD	Unknown	Rett syndrome-not certain	Female	3527
c.386G>T	p.Gly129Val	missense	MBD	Unknown	Rett syndrome-not certain	Female	3528
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3529
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3530
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3531
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3532
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3533
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3534
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3535
c.398G>A	p.Arg133His	missense	MBD	Unknown	Rett syndrome-not certain	Female	3536
c.398G>A	p.Arg133His	missense	MBD	Unknown	Rett syndrome-not certain	Female	3537
c.401C>G	p.Ser134Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3538
c.423C>G	p.Tyr141*	nonsense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3539
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3540
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3541
c.[473C>T];[473C>T]	p.[Thr158Met];[Thr158Met]	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3542
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3543
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3544
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3545
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3546
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3547
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3548
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3549
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3550
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3551
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3552
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3553
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3554
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3555
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3556
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3557
c.674C>G	p.Pro225Arg	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3558
c.913A>G	p.Lys305Glu	missense	TRD	Unknown	Rett syndrome-not certain	Female	3559
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3560
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3561
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3562
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3563
c.965C>T	p.Pro322Leu	missense	C-term	Unknown	Rett syndrome-not certain	Female	3564
c.1015T>C	p.Cys339Arg	missense	C-term	Unknown	Rett syndrome-not certain	Female	3565
c.1072G>A	p.Ala358Thr	missense	C-term	Polymorphism not causing disease	Rett syndrome-not certain	Female	3566
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3567
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3568
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3569
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3570
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3571
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3572
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3573
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3574
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3575
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3576
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3577
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3578
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3579
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3580
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3581
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3582
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3583
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3584
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3585
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3586
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3587
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3588
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3589
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3590
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3591
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3592
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3593
c.378-2A>T	intronic variation	intronic variation	intronic	Mutation associated with disease	Rett syndrome-not certain	Female	3594
c.-119_-114dupAGGAGG	p.(=)	in-frame insertion or deletion	N-term	Unknown	Rett syndrome-not certain	Female	3595
c.119_120delAG	p.Glu40fs	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	3596
c.710delG	p.Gly237fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3597
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3598
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3599
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3600
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3601
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3602
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3603
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3604
c.881_902del22	p.Arg294fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3605
c.1151_1183del33	p.Pro384_Ser395delinsArg	in-frame insertion or deletion	C-term	Unknown	Rett syndrome-not certain	Female	3607
c.1127_1179del53	p.Pro376fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3608
c.1152_1195del44	p.Pro385fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3609
c.1158_1186del29insCCA	p.Pro387Hisfs*9	frameshift combined insertion and deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3610
c.-168-?_26+?del	p.Met1?	exon deletions	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	3611
c.27-?_1021+?del (deletion of exons 3 and start of exon 4)	p.Arg9fs	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	3612
c.27-?_1170+?del (deletion of exon 3 and part of exon 4)	p.Arg9fs	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	3613
c.27-?_1170+?del (deletion of exon 3 and part of exon 4)	p.Arg9fs	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	3614
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	3615
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	3616
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	3617
c.378-?_1170+?del	p.Asn126fs	frameshift insertion or deletion	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3618
c.1169-?_*?del	p.Pro390fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3619
c.906_1138del233insAC	p.Ile303_Val380delinsLeu	in-frame combined insertion and deletion	TRD, C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3620
c.1048_1199del152	p.Ser350fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3621
c.392C>A	p.Ala131Asp	missense	MBD	Unknown	Rett syndrome-classical	Female	3623
c.401C>T	p.Ser134Phe	missense	MBD	Unknown	Rett syndrome-classical	Female	3624
c.467A>C	p.Asp156Ala	missense	MBD	Unknown	Rett syndrome-classical	Female	3625
c.904C>A	p.Pro302Thr	missense	TRD	Unknown	Rett syndrome-classical	Female	3626
c.914A>G	p.Lys305Arg	missense	TRD	Unknown	Rett syndrome-classical	Female	3627
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3628
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3629
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3630
c.317G>A	p.Arg106Gln	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3631
c.317G>A	p.Arg106Gln	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3632
c.372G>T	p.Leu124Phe	missense	MBD	Unknown	Rett syndrome-classical	Female	3633
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-atypical	Female	3634
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-atypical	Female	3635
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-atypical	Female	3636
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-atypical	Female	3637
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-preserved speech	Female	3638
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-preserved speech	Female	3639
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-preserved speech	Female	3640
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-preserved speech	Female	3641
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-preserved speech	Female	3642
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-preserved speech	Female	3643
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-preserved speech	Female	3644
c.401C>G	p.Ser134Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3645
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3646
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3647
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3648
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3649
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3650
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3651
c.468C>G	p.Asp156Glu	missense	MBD	Unknown	Rett syndrome-classical	Female	3652
c.468C>G	p.Asp156Glu	missense	MBD	Unknown	Rett syndrome-classical	Female	3653
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3654
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3655
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3656
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3657
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3658
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3659
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3660
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3661
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3662
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3663
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3664
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3665
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3666
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3667
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3668
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3669
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3670
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3671
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3672
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3673
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3674
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3675
c.905C>A	p.Pro302His	missense	TRD	Unknown	Rett syndrome-classical	Female	3676
c.905C>A	p.Pro302His	missense	TRD	Unknown	Rett syndrome-classical	Female	3677
c.905C>G	p.Pro302Arg	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3678
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3679
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-atypical	Female	3680
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-atypical	Female	3681
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-atypical	Female	3682
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-atypical	Female	3683
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-atypical	Female	3684
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-atypical	Female	3685
c.203C>G	p.Ser68*	nonsense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3686
c.423C>G	p.Tyr141*	nonsense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3687
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	3688
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	3689
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	3690
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	3691
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	3692
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	3693
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	3694
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	3695
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	3696
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	3697
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	3698
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	3699
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	3700
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	3701
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	3702
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	3703
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	3704
c.508C>T	p.Gln170*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	3705
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3706
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3707
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3708
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3709
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3710
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3711
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3712
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3713
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3714
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3715
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3716
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	3717
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	3718
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	3719
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	3720
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	3721
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	3722
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	3723
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	3724
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	3725
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	3726
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	3727
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	3728
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	3729
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	3730
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	3731
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3732
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3733
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3734
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3735
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3736
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3737
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3738
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-atypical	Female	3739
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-atypical	Female	3740
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-atypical	Female	3741
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-atypical	Female	3742
c.808delC	p.Arg270fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	3743
c.107_108delAA	p.Lys36fs	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-classical	Female	3744
c.543_544delTC	p.Pro182fs	frameshift insertion or deletion	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	3745
c.1450_1453delAGAG	p.Arg484fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	3746
c.1163_1197del35	p.Pro388fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-atypical	Female	3747
c.1115_1326del212	p.His372fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-atypical	Female	3748
c.616_1122del507	p.Gly206_Glu374del	inframe insertion or deletion	inter-domain region, TRD, TRD-NLS, C-term	Mutation associated with disease	Rett syndrome-classical	Female	3749
c.243dupC	p.Lys82fs	frameshift insertion or deletion	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3750
c.1197dupC	p.Thr400fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-atypical	Female	3751
c.1320dupT	p.Ala441fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-atypical	Female	3752
c.233delC	p.Ser78fs	frameshift insertion or deletion	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3753
c.375delC	p.Asn126fs	frameshift insertion or deletion	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3754
c.695delG	p.Gly232fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3755
c.696delC	p.Lys233fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3756
c.756_759delCAGG	p.Arg253fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3757
c.1157_1200del44	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-NK	Female	3758
c.1157_1200del44	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-NK	Female	3759
c.1157_1200del44	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-NK	Female	3760
c.1132_1202del71	p.Ala378fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-atypical	Female	3761
c.-99+1G>A	intronic variant	intronic variation	intronic	Unknown	Rett syndrome-classical	Female	3762
c.377+1G>T	intronic variation	intronic variation	intronic	Mutation associated with disease	Rett syndrome-classical	Female	3763
c.378-3C>G	intronic variation	intronic variation	intronic	Mutation associated with disease	Rett syndrome-classical	Female	3764
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	3765
c.808delC	p.Arg270fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	3766
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-classical	Female	3767
c.-167_-99del	p.(=)	exonic deletions	N-term	Mutation associated with disease	Rett syndrome-atypical	Female	3768
c.-168-?_26+?del	p.Met1?	exon deletions	N-term	Mutation associated with disease	Rett syndrome-classical	Female	3769
c.-168-?_26+?del	p.Met1?	exon deletions	N-term	Mutation associated with disease	Rett syndrome-classical	Female	3770
c.-168-?_26+?del	p.Met1?	exon deletions	N-term	Mutation associated with disease	Rett syndrome-classical	Female	3771
c.27-?_1018+?del	p.Arg9fs	exonic deletions	N-term	Mutation associated with disease	Rett syndrome-classical	Female	3772
c.27-?_1018+?del	p.Arg9fs	exonic deletions	N-term	Mutation associated with disease	Rett syndrome-atypical	Female	3773
c.27-?_1018+?del	p.Arg9fs	exonic deletions	N-term	Mutation associated with disease	Rett syndrome-classical	Female	3774
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-classical	Female	3775
c.27-?_*?del	p.Arg9fs	exon deletions	N-term	Mutation associated with disease	Rett syndrome-classical	Female	3776
c.27-?_1397+?del	p.Arg9fs	exonic deletions	N-term	Mutation associated with disease	Rett syndrome-classical	Female	3777
c.27-?_1397+?del	p.Arg9fs	exonic deletions	N-term	Mutation associated with disease	Rett syndrome-classical	Female	3778
c.27-?_1397+?del	p.Arg9fs	exonic deletions	N-term	Mutation associated with disease	Rett syndrome-classical	Female	3779
c.1017-?_1397+?del	p.?	exonic deletions	C-term	Mutation associated with disease	Rett syndrome-atypical	Female	3780
c.378-?_*?del	p.Asn126fs	exon deletion	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3781
c.1169-?_1170+?del	p.?	exonic deletions	C-term	Mutation associated with disease	Rett syndrome-classical	Female	3782
c.1169-?_1397+?del	p.?	exonic deletions	C-term	Mutation associated with disease	Rett syndrome-classical	Female	3783
c.1396-?_1397+?del	p.?	exonic deletions	C-term	Mutation associated with disease	Rett syndrome-classical	Female	3784
c.1396-?_1397+?del	p.?	exonic deletions	C-term	Mutation associated with disease	Rett syndrome-classical	Female	3785
c.631-?_657+?del	p.?	exonic deletion	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3786
c.631-?_657+?dup	p.?	exonic duplication	MBD	Unknown	Rett syndrome-preserved speech	Female	3787
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3788
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3789
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3790
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	3791
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	3792
c.856_859delAAAG	p.Lys286fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3793
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	3795
c.358T>G	p.Tyr120Asp	missense	MBD	Unknown	Rett syndrome-not certain	Female	3796
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	3797
c.378-74C>T	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Rett syndrome-classical	Female	3799
c.784C>T	p.Gln262*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	3800
c.1339G>A	p.Ala447Thr	missense	C-term	Polymorphism not causing disease	Rett syndrome-not certain	Female	3801
c.1339G>A	p.Ala447Thr	missense	C-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	3802
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	3803
c.602C>T	p.Ala201Val	missense	inter-domain region	Polymorphism not causing disease	Rett syndrome-classical	Female	3804
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3805
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3806
c.964C>G	p.Pro322Ala	missense	C-term	Unknown	Rett syndrome-classical	Female	3807
c.660C>T	p.Leu220Leu	silent	TRD	Silent polymorphism	Not Rett synd.-autism	Female	3809
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3813
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-atypical	Female	3814
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	3815
c.419C>T	p.Ala140Val	missense	MBD	Unknown	Not Rett synd.-late onset cognitive regression, parkinsonism, neuropsychiatric symptoms	Female	5302
c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA	p.Pro389*	frameshift combined insertion and deletion	C-term	Mutation associated with disease	Not Rett synd.-ADHD, global developmental delay and OCD	Female	5301
c.-116_-114dupAGG	p.(=)	in-frame insertion or deletion	N-term	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Female	3916
c.[343C>T(;)1075_1178del104]	p.[Arg115Cys(;)Ser359fs]	missense, frameshift insertion or deletion	MBD, C-term	Mutation associated with disease	Rett syndrome-classical	Female	3852
c.[502C>T; 1136_1142del7]	p.Arg168*	nonsense, frameshift insertion or deletion	MBD, C-term	Mutation associated with disease	Rett syndrome-not certain	Female	3853
c.[27-?_377+?del(;)1085_1216del132]	p.[Arg9_Asn126delinsSer(;) Pro362_Pro405del]	large deletion, inframe insertion or deletion	MBD, C-term	Mutation associated with disease	Rett syndrome-classical	Female	3854
c.[27-?_1000+?dup(;)1100_1188del89]	p.[?(;)His367fs]	complex rearrangement, frameshift insertion or deletion	MBD, C-term	Mutation associated with disease	Rett syndrome-classical	Female	3855
c.454C>G	p.Pro152Ala	missense	MBD	Mutation associated with disease	Not Rett synd.-Pervasive developmental disorder-not otherwise specified	Female	3856
c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Rett syndrome-atypical	Female	3858
c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-mental retardation and autism	Female	3859
c.*1134G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Rett syndrome-congenital	Female	3860
c.[*8500C>G];[*8503delC]	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-mental retardation	Female	3861
c.*8503delC	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	3863
c.-156C>T	p.(=)	missense	N-term	Unknown	Rett syndrome-not certain	Female	3867
c.-160A>G	p.(=)	missense	N-term	Unknown	Rett syndrome-not certain	Female	3868
c.1151_1188del38	p.Pro384fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	3870
c.1157_1200del44	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	3871
c.810_813delAAAG	p.Lys271fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3872
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3873
c.[1155_1172del18; 1373G>A]	p.[Leu386_Pro391del; Arg458His]	in-frame insertion or deletion, missense	c-term	Unknown	Rett syndrome-not certain	Female	3874
c.[1373G>A; 1448_*29del43]	p.[Arg458His; Glu483fs]	frameshift insertion or deletion, missense	c-term	Mutation associated with disease	Rett syndrome-not certain	Female	3875
c.[455C>G(;)683C>G]	p.[Pro152Arg(;)Thr228Ser]	missense	MBD, TRD	Mutation associated with disease	Rett syndrome-classical	Female	3910
c.869dupA	p.Ser291fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-classical	Female	3912
c.471C>G	p.Phe157Leu	missense	MBD	Unknown	Rett syndrome-classical	Female	3913
c.1455_1456dupTA	p.Ser486fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	3914
c.-116_-114dupAGG	p.(=)	in-frame insertion or deletion	N-term	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Female	3917
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Female	3926
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Female	3927
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Female	3928
c.815C>T	p.Pro272Leu	missense	TRD	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	3930
c.378-74C>T	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	3932
c.1214C>T	p.Pro405Leu	missense	C-term	Unknown	Not Rett synd.-borderline intelligence	Female	3933
c.1214C>T	p.Pro405Leu	missense	C-term	Unknown	Not Rett synd.-borderline intelligence and epilepsy	Female	3934
c.377+24C>A	intronic variation	intronic variation	intronic	Unknown	Not Rett synd.-unaffected family member	Female	3935
c.377+24C>A	intronic variation	intronic variation	intronic	Unknown	Not Rett synd.-unaffected family member	Female	3936
c.514C>T	p.Pro172Ser	missense	inter-domain region	Unknown	Not Rett synd.-unaffected family member	Female	3937
c.590C>T	p.Thr197Met	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	3938
c.527C>G	p.Pro176Arg	missense	inter-domain region	Polymorphism not causing disease	Rett syndrome-NK	Female	3941
c.1133C>T	p.Ala378Val	missense	C-term	Polymorphism not causing disease	Rett syndrome-NK	Female	3945
c.1436C>T	p.Thr479Met	missense	C-term	Polymorphism not causing disease	Rett syndrome-NK	Female	3949
c.602C>T	p.Ala201Val	missense	inter-domain region	Polymorphism not causing disease	Rett syndrome-NK	Female	3952
c.602C>T	p.Ala201Val	missense	inter-domain region	Polymorphism not causing disease	Rett syndrome-NK	Female	3956
c.602C>T	p.Ala201Val	missense	inter-domain region	Polymorphism not causing disease	Rett syndrome-NK	Female	3957
c.695G>C	p.Gly232Ala	missense	TRD	Polymorphism not causing disease	Rett syndrome-NK	Female	3958
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Not Rett synd.-unaffected family member	Female	3980
c.547G>C	p.Gly183Arg	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	3981
c.1164_1207del44	p.Pro389*	frameshift insertion or deletion	C-term	Mutation associated with disease	Not Rett synd.-unaffected family member	Female	3982
AY523575.1:g.1029dupC	5'UTR variation	5'UTR variation	5'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Female	3983
c.-143_-138dup	p.(=)	in-frame insertion or deletion	N-term	Polymorphism not causing disease	Not Rett synd.-seizures at adolescence	Female	3987
c.1072G>A	p.Ala358Thr	missense	C-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	3989
c.365T>C	p.Val122Ala	missense	MBD	Unknown	Not Rett synd.-	Female	4037
c.365T>C	p.Val122Ala	missense	MBD	Unknown	Not Rett synd.-	Female	4038
c.439G>A	p.Asp147Asn	missense	MBD	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	4044
c.1126C>T	p.Pro376Ser	missense	C-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	4045
c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	4049
c.587C>G	p.Thr196Ser	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	4052
c.587C>G	p.Thr196Ser	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	4054
c.587C>G	p.Thr196Ser	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	4055
c.587C>G	p.Thr196Ser	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Female	4056
c.683C>G	p.Thr228Ser	missense	TRD	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	4057
c.1180G>A	p.Glu394Lys	missense	C-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	4059
c.1438C>T	p.Pro480Ser	missense	C-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	4061
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	4062
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	4063
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	4064
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	4065
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	4066
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	4067
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	4068
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	4069
c.710delG	p.Gly237fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	4070
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	4071
c.1126C>T	p.Pro376Ser	missense	C-term	Polymorphism not causing disease	Rett syndrome-not certain	Female	4072
c.1126C>T	p.Pro376Ser	missense	C-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	4073
c.1330G>A	p.Ala444Thr	missense	C-term	Polymorphism not causing disease	Rett syndrome-not certain	Female	4074
c.1330G>A	p.Ala444Thr	missense	C-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	4075
c.1189G>A	p.Glu397Lys	missense	C-term	Polymorphism not causing disease	Rett syndrome-not certain	Female	4076
c.1189G>A	p.Glu397Lys	missense	C-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	4077
c.1189G>A	p.Glu397Lys	missense	C-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	4078
c.1278C>T	p.Ser426Ser	silent	C-term	Silent polymorphism	Rett syndrome-atypical	Female	4079
c.279C>T	p.Pro93Pro	silent	MBD	Silent polymorphism	Rett syndrome-atypical	Female	4080
c.484dupA	p.Arg162fs	frameshift insertion or deletion	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	4084
c.795C>G	p.Pro265Pro	silent	TRD-NLS	Silent polymorphism	Rett syndrome-atypical	Female	4085
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	4088
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	4089
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	4090
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	4091
c.1138G>A	p.Val380Met	missense	C-term	Unknown	Not Rett synd.-mental retardation	Female	4092
c.419C>T	p.Ala140Val	missense	MBD	Unknown	Not Rett synd.-mental retardation	Female	4093
c.377A>G	p.Asn126Ser	missense	MBD	Unknown	Not Rett synd.-microcephaly, neonatal seizures	Female	4094
c.380C>T	p.Pro127Leu	missense	MBD	Unknown	Rett syndrome-classical	Female	4095
c.403A>G	p.Lys135Glu	missense	MBD	Unknown	Rett syndrome-classical	Female	4096
c.482G>T	p.Gly161Val	missense	MBD	Unknown	Rett syndrome-classical	Female	4097
c.784C>T	p.Gln262*	nonsense	TRD-NLS	Mutation associated with disease	Not Known	Female	4098
c.1133C>G	p.Ala378Gly	missense	C-term	Unknown	Rett syndrome-classical	Female	4099
c.1163C>T	p.Pro388Leu	missense	C-term	Unknown	Rett syndrome-classical	Female	4100
c.1163C>T	p.Pro388Leu	missense	C-term	Unknown	Not Rett synd.-unaffected family member	Female	4101
c.495delC	p.Ser166fs	frameshift insertion or deletion	inter-domain region	Mutation associated with disease	Not Known	Female	4102
c.755dupG	p.Arg253fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-classical	Female	4103
c.819delG	p.Ser274fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Not Known	Female	4105
c.1128_1179del52	p.Lys377fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	4106
c.1162_1163delCC	p.Pro388fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	4107
c.1163_1201del39	p.Pro388_Ser401delinsArg	in-frame insertion or deletion	C-term	Unknown	Not Rett synd.-seizures, no speech	Female	4108
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Not Known	Female	4109
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Not Known	Female	4110
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Not Known	Female	4111
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Not Known	Female	4112
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Not Known	Female	4113
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Not Known	Female	4114
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Not Known	Female	4115
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Not Known	Female	4116
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Not Known	Female	4117
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Not Known	Female	4118
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Not Known	Female	4119
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Not Known	Female	4120
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Not Known	Female	4121
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Not Known	Female	4122
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Not Known	Female	4123
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Not Known	Female	4124
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Not Known	Female	4125
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Not Known	Female	4126
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Not Known	Female	4127
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Not Known	Female	4128
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Not Known	Female	4129
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Not Known	Female	4130
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Not Known	Female	4131
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Not Known	Female	4132
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Not Known	Female	4133
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Not Known	Female	4134
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Not Known	Female	4135
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Not Known	Female	4136
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Not Known	Female	4137
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Not Known	Female	4138
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Not Known	Female	4139
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Not Known	Female	4140
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Not Known	Female	4141
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Not Known	Female	4142
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Not Known	Female	4143
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Not Known	Female	4144
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Not Known	Female	4145
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Not Known	Female	4146
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Not Known	Female	4147
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Not Known	Female	4148
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Not Known	Female	4149
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Not Known	Female	4150
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Not Known	Female	4151
c.515C>T	p.Pro172Leu	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-sporadic mental retardation	Female	4179
c.295_297delACC	p.Thr99del	in-frame insertion or deletion	MBD	Mutation associated with disease	Rett syndrome-classical	Female	4181
c.710delG	p.Gly237fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-classical	Female	4182
c.1164_1207del44	p.Pro389*	frameshift insertion or deletion	C-term	Mutation associated with disease	Not Rett synd.-autism	Female	5300
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Not Rett synd.-autism - pervasive developmental disorder	Female	5298
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-forme fruste	Female	5299
c.377+266T>C	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	4199
c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	4202
c.*55C>G	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	4216
c.1142_1227del86	p.Pro381fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Not Rett synd.-unaffected family member	Female	4221
c.808delC	p.Arg270fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	4224
c.[316C>T(;)1233C>T]	p.[Arg106Trp(;)Ser411Ser]	missense, silent	MBD, C-term	Mutation associated with disease	Rett syndrome-Classical	Female	4226
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	4227
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	4228
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	4229
c.[334A>T(;)871T>G]	p.[Lys112*(;)Ser291Ala]	nonsense, missense	MBD, TRD	Mutation associated with disease	Rett syndrome-Classical	Female	4230
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	4231
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	4232
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	4233
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	4234
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	4235
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	4236
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	4237
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	4238
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	4239
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	4240
c.[473C>T(;)590C>T]	p.[Thr158Met(;)Thr197Met]	missense	MBD, inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	4241
c.[473C>T(;)1233C>T]	p.[Thr158Met(;)Ser411Ser]	missense, silent	MBD, C-term	Mutation associated with disease	Rett syndrome-Classical	Female	4242
c.[473C>T(;)1335G>A]	p.[Thr158Met(;)Thr445Thr]	missense, silent	MBD, C-term	Mutation associated with disease	Rett syndrome-Classical	Female	4243
not certain	p.Phe157Leu	missense	MBD	Unknown	Rett syndrome-Classical	Female	4244
c.468C>G	p.Asp156Glu	missense	MBD	Unknown	Rett syndrome-Classical	Female	4245
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	4246
c.400T>C	p.Ser134Pro	missense	MBD	Unknown	Rett syndrome-Classical	Female	4247
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	4248
c.[397C>T(;)1233C>T]	p.[Arg133Cys(;)Ser411Ser]	missense, silent	MBD, C-term	Mutation associated with disease	Rett syndrome-Atypical	Female	4249
c.[398G>T(;)602C>T]	p.[Arg133Leu(;)Ala201Val]	missense	MBD, inter-domain region	Unknown	Rett syndrome-Classical	Female	4250
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	4251
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	4252
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	4253
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	4254
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	4255
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	4256
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	4257
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	4258
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	4259
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-Atypical	Female	4260
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	4261
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	4262
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	4263
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-Atypical	Female	4264
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-Atypical	Female	4265
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	4266
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	4267
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	4268
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	4269
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	4270
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	4271
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Atypical	Female	4272
c.582C>T	p.Ser194Ser	silent	inter-domain region	Silent polymorphism	Rett syndrome-not certain	Female	4273
c.666C>G	p.Val222Val	silent	TRD	Silent polymorphism	Rett syndrome-not certain	Female	4274
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	4275
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-Atypical	Female	4276
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-Atypical	Female	4277
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	4278
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	4279
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	4280
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	4281
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	4282
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	4283
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	4284
c.[590C>T(;)916C>T]	p.[Thr197Met(;)Arg306Cys]	missense	inter-domain region, TRD	Mutation associated with disease	Rett syndrome-Classical	Female	4285
c.[916C>T(;)1233C>T]	p.[Arg306Cys(;)Ser411Ser]	missense, silent	TRD, C-term	Mutation associated with disease	Rett syndrome-Classical	Female	4286
c.965C>T	p.Pro322Leu	missense	C-term	Unknown	Rett syndrome-Classical	Female	4287
c.[1233C>T(;)1460G>T]	p.[Ser411Ser(;)*487Leuext*27]	silent, non-stop	C-term	Unknown	Rett syndrome-Classical	Female	4288
c.1233C>T	p.Ser411Ser	silent	C-term	Silent polymorphism	Rett syndrome-not certain	Female	4289
c.1233C>T	p.Ser411Ser	silent	C-term	Silent polymorphism	Rett syndrome-not certain	Female	4290
c.1233C>T	p.Ser411Ser	silent	C-term	Silent polymorphism	Rett syndrome-not certain	Female	4291
c.1233C>T	p.Ser411Ser	silent	C-term	Silent polymorphism	Rett syndrome-not certain	Female	4292
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	4293
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	4294
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	4295
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-Atypical	Female	4296
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-Atypical	Female	4297
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-Atypical	Female	4298
c.[916C>T(;)*98dupA]	"p.Arg306Cys, 3'UTR variation"	missense, 3'UTR variation	TRD, 3'UTR	Mutation associated with disease	Rett syndrome-classical	Female	4299
c.*92C>G	3'UTR variation	3'UTR variation	3'UTR	Unknown	Rett syndrome-classical	Female	4300
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	4301
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	4302
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	4303
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	4304
c.502C>T	p.Arg168*	nonsense	MBD, inter-domain region, TRD, TRD-NLS, C-term	Mutation associated with disease	Rett syndrome-classical	Female	4305
c.343_1282del	p.Arg115_Glu394del	in-frame insertion or deletion	MBD, inter-domain, TRD, TRD-NLS, C-term	Mutation associated with disease	Rett syndrome-not certain	Female	4306
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	4307
c.1164_1207del44	p.Pro389*	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	4308
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	4309
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	4310
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	4311
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	4312
c.1189G>T	p.Glu397*	nonsense	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	4313
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	4314
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	4315
c.1164_1207del44	p.Pro389*	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	4316
c.695dupG	p.Lys233fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	4317
c.669_686conAL078639.5:g.94544_94611	p.Lys223Asnfs*12	frameshift insertion or deletion	TRD, TRD-NLS, C-term	Mutation associated with disease	Rett syndrome-not certain	Female	4318
c.468C>G	p.Asp156Glu	missense	MBD	Unknown	Rett syndrome-not certain	Female	4319
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	4320
c.[377+28A>G(;)1014C>T]	"intronic variation, p.Thr338Thr"	intronic variation, silent	intronic, C-term	Silent polymorphism	Rett syndrome-Classical	Female	4334
p.[378-17delT]; [1161_1169del9;1178C>T; 1181_1191del11; 1233C>T]	p.[Pro389_Pro391del;Pro393Leu;Glu394fs];[=]	intronic variation, in-frame insertion or deletion, missense, frameshift insertion or deletion	intronic, C-term	Mutation associated with disease	Rett syndrome-Classical	Female	4335
c.[378-74C>T(;)473C>T]	"intronic variation, p.Thr158Met"	intronic variation, missense	intronic, MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	4336
c.[378-74C>T];[378-74C>T]	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Rett syndrome-Classical	Female	4337
c.[426C>T(;)608C>T]	p.[Phe142Phe(;)Thr203Met]	silent, missense	MBD, inter-domain region	Polymorphism not causing disease	Rett syndrome-Atypical	Female	4338
c.[455C>G(;)582C>T]	p.[Pro152Arg(;)Ser194Ser]	missense, silent	MBD, inter-domain region	Mutation associated with disease	Rett syndrome-Atypical	Female	4339
c.[473C>T(;)*14G>A]	"p.Thr158Met, 3'UTR variation"	missense, 3'UTR variation	MBD, 3'UTR	Mutation associated with disease	Rett syndrome-Atypical	Female	4340
c.[763C>T(;)1133C>G]	p.[Arg255*(;)Ala378Gly]	nonsense, missense	TRD, C-term	Mutation associated with disease	Rett syndrome-Classical	Female	4341
c.[880C>T(;)1233C>T]	p.[Arg294*(;)Ser411Ser]	nonsense, silent	TRD, C-term	Mutation associated with disease	Rett syndrome-Classical	Female	4342
c.1157_1197del41	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	4343
c.1160_1166del7	p.Pro387fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Female	4344
c.1233C>T	p.Ser411Ser	silent	C-term	Silent polymorphism	Rett syndrome-Classical	Female	4345
c.289G>T	p.Asp97Tyr	missense	MBD	Unknown	Rett syndrome-Classical	Female	4346
c.326dupA	p.Gln110fs	frameshift insertion or deletion	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	4347
c.377+1G>A	intronic variation	intronic variation	intronic	Mutation associated with disease	Rett syndrome-Classical	Female	4348
c.378-109A>G	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Rett syndrome-Atypical	Female	4349
c.378-109A>G	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Rett syndrome-Atypical	Female	4350
c.378-14G>A	intronic variation	intronic variation	intronic	Unknown	Rett syndrome-Classical	Female	4351
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	4352
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Female	4353
c.378-74C>T	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Rett syndrome-Classical	Female	4354
c.378-74C>T	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Rett syndrome-Classical	Female	4355
c.378-74C>T	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Rett syndrome-Classical	Female	4356
c.378-74C>T	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Rett syndrome-Classical	Female	4357
c.378-74C>T	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Rett syndrome-Classical	Female	4358
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	4359
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	4360
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	4361
c.420delG	p.Tyr141fs	frameshift insertion or deletion	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	4362
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	4363
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	4364
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	4365
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	4366
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	4367
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	4368
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-Atypical	Female	4369
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Female	4370
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	4371
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	4372
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-Atypical	Female	4373
c.566dupG	p.Arg190fs	frameshift insertion or deletion	inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Female	4374
c.582C>T	p.Ser194Ser	silent	inter-domain region	Silent polymorphism	Not Rett synd.-unaffected family member	Female	4375
c.696delC	p.Lys233fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	4376
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	4377
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	4378
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-Atypical	Female	4379
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-Atypical	Female	4380
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Female	4381
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	4382
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Female	4383
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-Atypical	Female	4384
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-Atypical	Female	4385
c.900_908del	p.Leu301_Ile303del	in-frame insertion or deletion	TRD	Unknown	Rett syndrome-forme fruste	Female	4386
c.777C>T	p.Ala259Ala	silent	TRD-NLS	Silent polymorphism	Not Rett synd.-normal control	Female	4387
c.377+22C>G	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Female	4388
c.1233C>T	p.Ser411Ser	silent	C-term	Silent polymorphism	Not Rett synd.-normal control	Female	4389
c.378-109A>G	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Female	4390
c.603G>A	p.Ala201Ala	silent	inter-domain region	Silent polymorphism	Not Rett synd.-normal control	Female	4391
c.1452_1453dup	p.Val485fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	4392
c.153C>G	p.His51Gln	missense	N-term	Unknown	Not Rett synd.-unaffected family member	Female	4393
c.413T>C	p.Leu138Ser	missense	MBD	Unknown	Rett syndrome-classical	Female	4394
c.308G>A	p.Gly103Asp	missense	MBD	Unknown	Rett syndrome-atypical	Female	4395
c.274G>T	p.Gly92*	nonsense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	4396
c.[834C>T(;) 856_859delAAAG(;) 1180G>A]	p.[Ala278Ala(;) Lys286fs(;) Glu394Lys]	silent, frameshift insertion or deletion, missense	TRD, C-term	Mutation associated with disease	Rett syndrome-classical	Female	4397
c.419C>T	p.Ala140Val	missense	MBD	Unknown	Not Rett synd.-unaffected family member	Female	4402
c.419C>T	p.Ala140Val	missense	MBD	Unknown	Not Rett synd.-unaffected family member	Female	4403
c.419C>T	p.Ala140Val	missense	MBD	Unknown	Not Rett synd.-unaffected family member	Female	4404
c.419C>T	p.Ala140Val	missense	MBD	Unknown	Not Rett synd.-unaffected family member	Female	4405
c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-sporadic mental retardation	Female	4408
c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non Rett syndrome control	Female	4409
c.1118C>G	p.Ser373*	nonsense	C-term	Mutation associated with disease	Not Known	Female	4410
c.1152_1195del44	p.Pro385fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	4411
c.1157_1197del41	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	4412
c.1157_1197del41	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	4413
c.1157_1200del44	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	4414
c.1157_1200del44	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	4415
c.1163_1188del26	p.Pro388fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	4416
c.1164_1207del44	p.Pro389*	frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	4418
c.1170_1207del38	p.Pro391*	frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	4419
c.1214_1230del17	p.Pro405fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Not Known	Female	4420
c.1276_*113del299ins3	p.Ser426fs	frameshift combined insertion and deletion	C-term	Mutation associated with disease	Not Known	Female	4421
c.1357C>T	p.Arg453*	nonsense	C-term	Mutation associated with disease	Not Known	Female	4422
c.146C>G	p.Ser49*	nonsense	N-term	Mutation associated with disease	Not Known	Female	4423
c.194C>G	p.Ser65*	nonsense	N-term	Mutation associated with disease	Not Known	Female	4424
c.224C>T	p. Pro75Leu	missense	N-term	Unknown	Not Known	Female	4425
c.302C>G	p.Pro101Arg	missense	MBD	Unknown	Not Known	Female	4426
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Not Known	Female	4427
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Not Known	Female	4428
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Not Known	Female	4429
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Not Known	Female	4430
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Not Known	Female	4431
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Not Known	Female	4432
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Not Known	Female	4433
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Not Known	Female	4434
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Not Known	Female	4435
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Not Known	Female	4436
c.401C>G	p.Ser134Cys	missense	MBD	Mutation associated with disease	Not Known	Female	4437
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Not Known	Female	4438
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Not Known	Female	4439
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Not Known	Female	4440
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Not Known	Female	4441
c.464T>G	p.Phe155Cys	missense	MBD	Unknown	Not Known	Female	4442
c.468C>G	p.Asp156Glu	missense	MBD	Unknown	Not Known	Female	4443
c.468C>G	p.Asp156Glu	missense	MBD	Unknown	Not Known	Female	4444
c.-114_-104del11	p.(=)	frameshift insertion or deletion	N-term	Mutation associated with disease	Not Known	Female	4445
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Not Known	Female	4447
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Not Known	Female	4448
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Not Known	Female	4449
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Not Known	Female	4450
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Not Known	Female	4451
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Not Known	Female	4452
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Not Known	Female	4454
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Not Known	Female	4455
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Not Known	Female	4456
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Not Known	Female	4457
c.499C>T	p.Arg167Trp	missense	inter-domain region	Mutation associated with disease	Not Known	Female	4458
c.499C>T	p.Arg167Trp	missense	inter-domain region	Mutation associated with disease	Not Rett synd.-unaffected family member	Female	4459
c.499C>T	p.Arg167Trp	missense	inter-domain region	Mutation associated with disease	Not Known	Female	4460
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Not Known	Female	4461
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Not Known	Female	4462
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Not Known	Female	4463
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Not Known	Female	4464
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Not Known	Female	4465
c.518C>G	p.Pro173Arg	missense	inter-domain region	Unknown	Not Known	Female	4466
c.518C>G	p.Pro173Arg	missense	inter-domain region	Unknown	Not Rett synd.-unaffected family member	Female	4467
c.518C>G	p.Pro173Arg	missense	inter-domain region	Unknown	Not Known	Female	4468
c.55C>T	p.Gln19*	nonsense	N-term	Mutation associated with disease	Not Known	Female	4469
c.56dupA	p.Leu21fs	frameshift insertion or deletion	N-term	Mutation associated with disease	Not Known	Female	4470
c.608C>T	p.Thr203Met	missense	inter-domain region	Polymorphism not causing disease	Not Known	Female	4471
c.608C>T	p.Thr203Met	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	4472
c.608C>T	p.Thr203Met	missense	inter-domain region	Polymorphism not causing disease	Not Known	Female	4473
c.673C>A	p.Pro225Thr	missense	TRD	Mutation associated with disease	Not Known	Female	4474
c.686C>A	p.Ser229*	nonsense	TRD	Mutation associated with disease	Not Known	Female	4475
c.686C>T	p.Ser229Leu	missense	TRD	Polymorphism not causing disease	Not Known	Female	4476
c.689_756del68	p.Pro230fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Not Known	Female	4478
c.736_743delinsGTG	p.Met246fs	frameshift combined insertion and deletion	TRD	Mutation associated with disease	Not Known	Female	4479
c.752_753dupCC	p.Gly252fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Not Known	Female	4480
c.763_1383del621ins15	p.Arg255_Ile461delins5	in-frame combined insertion and deletion	TRD, TRD-NLS, C-term	Mutation associated with disease	Not Known	Female	4481
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Not Known	Female	4482
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Not Rett synd.-unaffected family member	Female	4483
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Not Known	Female	4484
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Not Known	Female	4485
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Not Known	Female	4486
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Not Known	Female	4487
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Not Known	Female	4488
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Not Known	Female	4489
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Not Known	Female	4490
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Not Known	Female	4491
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Not Known	Female	4492
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Not Known	Female	4493
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Not Known	Female	4494
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Not Known	Female	4495
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Not Known	Female	4496
c.834_939del106	p.Ala279fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Not Known	Female	4497
c.857A>G	p.Lys286Arg	missense	TRD	Unknown	Not Known	Female	4498
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Not Known	Female	4499
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Not Known	Female	4500
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Not Known	Female	4501
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Not Known	Female	4502
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Not Known	Female	4503
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Not Known	Female	4504
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Not Known	Female	4505
c.911A>G	p.Lys304Arg	missense	TRD	Unknown	Not Known	Female	4506
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Not Known	Female	4507
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Not Known	Female	4508
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Not Known	Female	4509
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Not Known	Female	4510
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Not Known	Female	4511
c.917G>A	p.Arg306His	missense	TRD	Mutation associated with disease	Not Known	Female	4512
c.943_1140del198ins6	p.Glu315_Val380delins2	in-frame combined insertion and deletion	C-term	Mutation associated with disease	Not Known	Female	4513
c.1288C>T	p.Pro430Ser	missense	C-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	4589
c.1288C>T	p.Pro430Ser	missense	C-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	4591
c.1288C>T	p.Pro430Ser	missense	C-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	4592
c.992A>G	p.Lys331Arg	missense	C-term	Polymorphism not causing disease	Rett syndrome-congenital	Female	4593
c.[1035A>G(;)1233C>T]	p.[Lys345Lys(;)Ser411Ser]	silent	C-term	Silent polymorphism	Rett syndrome-congenital	Female	4595
c.-168-?_26+?del (deletion exons 1 and 2)	p.Met1?	exon deletions	N-term	Mutation associated with disease	Rett syndrome-congenital	Female	4600
c.1339G>A	p.Ala447Thr	missense	C-term	Polymorphism not causing disease	Not Rett synd.-schizophrenia	Female	4604
c.985G>A	p.Gly329Ser	missense	C-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	4616
c.925C>T	p.Arg309Trp	missense	TRD	Unknown	Not Rett synd.-autism spectrum disorder	Female	4618
c.596C>A	p.Pro199His	missense	inter-domain region	Unknown	Not Rett synd.-schizophrenia	Female	4620
c.1250A>T	p.Lys417Met	missense	C-term	Unknown	Not Rett synd.-unaffected family member	Female	4675
c.710delG	p.Gly237fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	4706
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	4707
c.[1121_1311del191; 1326_1334del9]	p.Glu374fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	4708
c.1157_1188del32	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	4709
c.1157_1197del41	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	4710
c.1160_1166del7	p.Pro387fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	4711
c.1163_1197del35	p.Pro388fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	4712
c.[276_277insG(;) 1162_1179del18]	p.[Pro94fs(;) Pro388_Pro393del]	frameshift insertion or deletion, in-frame insertion or deletion	MBD, C-term	Mutation associated with disease	Rett syndrome-not certain	Female	4713
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	4715
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	4716
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	4717
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	4718
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	4719
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	4720
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	4721
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	4722
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	4723
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	4724
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	4725
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	4726
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	4727
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	4728
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	4729
c.317G>A	p.Arg106Gln	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	4730
c.317G>A	p.Arg106Gln	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	4731
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	4732
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	4733
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	4734
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	4735
c.[397C>T(;) 582C>T]	p.[Arg133Cys(;) Ser194Ser]	missense, silent	MBD, inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	4736
c.401C>T	p.Ser134Phe	missense	MBD	Unknown	Rett syndrome-not certain	Female	4737
c.401C>G	p.Ser134Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	4738
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	4739
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	4740
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	4741
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	4742
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	4743
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	4744
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	4745
c.674C>G	p.Pro225Arg	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	4746
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	4747
c.375C>A	p.Ile125Ile	silent	MBD	Silent polymorphism	Rett syndrome-not certain	Female	4749
c.582C>T	p.Ser194Ser	silent	inter-domain region	Silent polymorphism	Rett syndrome-not certain	Female	4750
c.602C>T	p.Ala201Val	missense	inter-domain region	Polymorphism not causing disease	Rett syndrome-not certain	Female	4751
c.608C>T	p.Thr203Met	missense	inter-domain region	Polymorphism not causing disease	Rett syndrome-not certain	Female	4752
c.753C>T	p.Pro251Pro	silent	TRD	Silent polymorphism	Rett syndrome-not certain	Female	4753
c.753C>T	p.Pro251Pro	silent	TRD	Silent polymorphism	Rett syndrome-not certain	Female	4754
c.999G>T	p.Gly333Gly	silent	C-term	Silent polymorphism	Rett syndrome-not certain	Female	4755
c.1161C>T	p.Pro387Pro	silent	C-term	Silent polymorphism	Rett syndrome-not certain	Female	4756
c.1189G>A	p.Glu397Lys	missense	C-term	Polymorphism not causing disease	Rett syndrome-not certain	Female	4757
c.1266C>T	p.Gly422Gly	silent	C-term	Silent polymorphism	Rett syndrome-not certain	Female	4758
c.1157_1197del41	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Not Rett synd.-mental retardation	Female	4770
c.1157_1197del41	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	4771
c.1157_1197del41	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-atypical	Female	4772
c.1159_1160delCCinsT	p.Pro387fs	frameshift combined insertion and deletion	C-term	Mutation associated with disease	Not Rett synd.-mental retardation	Female	4773
c.1159_1160delCCinsT	p.Pro387fs	frameshift combined insertion and deletion	C-term	Mutation associated with disease	Rett syndrome-atypical	Female	4774
c.1159_1160delCCinsT	p.Pro387fs	frameshift combined insertion and deletion	C-term	Mutation associated with disease	Not Rett synd.-mild mental retardation	Female	4775
c.27-?_377+?del (exon 3 deletion)	p.Arg9_Asn126delinsSer	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	4777
c.27-?_377+?del (exon 3 deletion)	p.Arg9_Asn126delinsSer	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-not certain	Female	4778
c.153C>G	p.His51Gln	missense	N-term	Unknown	Not Rett synd.-unaffected family member	Female	4788
c.50dupA	p.Asp17fs	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-classical	Female	4789
c.1164_1207del44	p.Pro389*	frameshift insertion or deletion	C-term	Mutation associated with disease	Not Rett synd.-slight cognitive delay, no regression known, moderate mental retardation	Female	4790
c.1164_1207del44	p.Pro389*	frameshift insertion or deletion	C-term	Mutation associated with disease	Not Rett synd.-moderate mental retardation, does not meet any RTT criteria, significant behavioural problems	Female	4791
c.1164_1207del44	p.Pro389*	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	4794
c.[535C>T(;) 763C>T]	p.[Pro179Ser(;) Arg255*]	missense, nonsense	inter-domain region, TRD	Unknown	Rett syndrome-classical	Female	4795
c.1065C>A	p.Ser355Arg	missense	C-term	Unknown	Rett syndrome-classical	Female	4802
c.1030C>G	p.Arg344Gly	missense	C-term	Unknown	Rett syndrome-classical	Female	4803
c.996C>T	p.Ser332Ser	silent	C-term	Silent polymorphism	Rett syndrome-atypical	Female	4804
c.[602C>T(;) 1157_1197del41]	p.[Ala201Val(;) Leu386fs]	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-atypical	Female	4805
c.248-?_320+?del (exon 3 deletion)	p.?	in-frame insertion or deletion	MBD	Mutation associated with disease	Rett syndrome-classical	Female	4806
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	4808
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-atypical	Female	4809
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	4810
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	4811
c.674C>G	p.Pro225Arg	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	4812
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	4813
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	4814
c.897C>T	p.Thr299Thr	silent	TRD	Silent polymorphism	Not Rett synd.-not certain	Female	4815
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	4816
c.964C>G	p.Pro322Ala	missense	C-term	Unknown	Rett syndrome-classical	Female	4817
c.1093_1095delGAG	p.Glu365del	in-frame insertion or deletion	C-term	Unknown	Rett syndrome-classical	Female	4818
c.1189G>A	p.Glu397Lys	missense	C-term	Polymorphism not causing disease	Not Rett synd.-not certain	Female	4819
c.1197C>T	p.Pro399Pro	silent	C-term	Silent polymorphism	Not Rett synd.-not certain	Female	4820
c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA	p.Pro389*	in-frame insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-atypical	Female	4821
c.-116_-114dupAGG	p.(=)	in-frame insertion or deletion	N-term	Polymorphism not causing disease	Not Rett synd.-not certain	Female	4822
c.27-?_1029+?del (deletion of exon 3 and partial deletion of exon 4)	p.Arg9?	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-congenital	Female	4827
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	4828
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	4829
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	4830
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	4831
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	4832
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	4833
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	4834
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	4835
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	4836
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	4837
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	4838
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	4839
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	4840
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	4841
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	4842
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	4843
c.[426C>T(;) 502C>T]	p.[Phe142Phe(;) Arg168*]	nonsense, silent	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	4844
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	4845
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-atypical	Female	4846
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	4847
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	4848
c.468C>G	p.Asp156Glu	missense	MBD	Unknown	Rett syndrome-classical	Female	4849
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	4850
c.1363G>T	p.Glu455*	nonsense	C-term	Mutation associated with disease	Rett syndrome-classical	Female	4851
c.1117_1203del87	p.Ser373_Ser401del	in-frame insertion or deletion	C-term	Unknown	Rett syndrome-atypical	Female	4852
c.[1112_1116del; 1116_1137inv; 1138_1152del15ins7]	p.His371Glyfs*7	frameshift combined insertion and deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	4853
c.1160_1200del41insAGGGGTGG	p.Pro387_Thr400delinsGlnGlyTrp	in-frame combined insertion and deletion	C-term	Unknown	Rett syndrome-classical	Female	4854
c.1161_1166del6	p.Pro390_Pro391del	in-frame insertion or deletion	C-term	Unknown	Not Rett synd.-Angelman syndrome-like	Female	4855
c.1164_1207del44	p.Pro389*	frameshift insertion or deletion	C-term	Mutation associated with disease	Not Rett synd.-mental retardation	Female	4856
c.1164_1194del31	p.Pro391fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	4857
c.590C>T	p.Thr197Met	missense	inter-domain region	Polymorphism not causing disease	Rett syndrome-classical	Female	4858
c.608C>T	p.Thr203Met	missense	inter-domain region	Polymorphism not causing disease	Rett syndrome-atypical	Female	4859
c.1189G>A	p.Glu397Lys	missense	C-term	Polymorphism not causing disease	Rett syndrome-atypical	Female	4861
c.897C>T	p.Thr299Thr	silent	TRD	Silent polymorphism	Rett syndrome-atypical	Female	4862
c.984C>T	p.Leu328Leu	silent	C-term	Silent polymorphism	Rett syndrome-atypical	Female	4863
c.1326C>T	p.Thr442Thr	silent	C-term	Silent polymorphism	Rett syndrome-atypical	Female	4864
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-preserved speech	Female	4865
c.409_1158del	p.Glu137_Leu386del	in-frame insertion or deletion	MBD, inter-domain region, TRD, TRD-NLS, C-term	Mutation associated with disease	Rett syndrome-classical	Female	4866
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-atypical	Female	4867
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	4868
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	4869
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	4870
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	4871
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	4872
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	4873
c.574A>T	p.Lys192*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	4874
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	4875
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	4876
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	4877
c.867_1223delinsA	p.Ser291Glnfs*26	frameshift combined insertion and deletion	TRD, C-term	Mutation associated with disease	Rett syndrome-classical	Female	4878
c.871_1044del	p.Ile293_Ser350del	in-frame insertion or deletion	TRD, C-term	Mutation associated with disease	Rett syndrome-atypical	Female	4879
c.898G>A	p.Val300Ile	missense	TRD	Unknown	Not Rett synd.-autism	Female	4880
c.898G>A	p.Val300Ile	missense	TRD	Unknown	Not Rett synd.-unaffected family member	Female	4881
c.909C>G	p.Ile303Met	missense	TRD	Unknown	Not Rett synd.-nonspecific mental retardation	Female	4882
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	4883
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	4884
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	4885
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-atypical	Female	4886
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-atypical	Female	4887
c.932C>T	p.Thr311Met	missense	C-term	Unknown	Not Rett synd.-nonspecific mental retardation	Female	4888
c.932C>T	p.Thr311Met	missense	C-term	Unknown	Not Rett synd.-unaffected family member	Female	4889
c.1028_1158del	p.Gly343Alafs*6	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-atypical	Female	4890
c.1030C>T	p.Arg344Trp	missense	C-term	Unknown	Rett syndrome-atypical	Female	4891
c.1072G>A	p.Ala358Thr	missense	C-term	Polymorphism not causing disease	Not Rett synd.-nonspecific mental retardation	Female	4892
c.1151C>T	p.Pro384Leu	missense	C-term	Unknown	Not Rett synd.-nonspecific mental retardation	Female	4894
c.1151C>T	p.Pro384Leu	missense	C-term	Unknown	Not Rett synd.-	Female	4895
c.1151C>T	p.Pro384Leu	missense	C-term	Unknown	Not Rett synd.-nonspecific mental retardation	Female	4896
c.1327G>A	p.Ala443Thr	missense	C-term	Unknown	Not Rett synd.-unaffected family member	Female	4898
c.1441G>A	p.Val481Met	missense	C-term	Unknown	Rett syndrome-classical	Female	4899
c.[1077_1079delCTC(;) 1142C>T(;) 1157_1200del44]	p.[Ser360del(;) Pro381Leu(;) Leu386fs]	frameshift insertion or deletion, missense	C-term	Mutation associated with disease	Rett syndrome-classical	Female	4902
c.298C>G	p.Leu100Val	missense	MBD	Unknown	Rett syndrome-not certain	Female	4903
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	4904
not certain	p.Phe157Leu	missense	MBD	Unknown	Rett syndrome-not certain	Female	4905
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	4906
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	4907
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	4908
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	4909
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	4910
c.382C>T	p.Gln128*	nonsense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	4911
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	4912
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	4913
c.1216C>T	p.Gln406*	nonsense	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	4914
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	4915
c.1153_1188del36	p.Pro385_Ser396del	in-frame insertion or deletion	C-term	Unknown	Rett syndrome-not certain	Female	4916
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	4917
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	4918
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	4919
c.905C>G	p.Pro302Arg	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	4920
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	4921
c.1157_1197del41	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	4922
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	4923
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	4924
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	4925
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	4926
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	4927
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	4928
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	4929
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	4930
c.1157_1200del44	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	4931
c.318_321dup	p.Leu108fs	frameshift insertion or deletion	MBD	Mutation associated with disease	Rett syndrome-classical	Female	4932
c.[584_624del41insTT; 638delTinsCA]	p.[Gly195_Gln208delinsVal; Leu213Profs*23]	frameshift combined insertion and deletion	inter-domain region, TRD	Mutation associated with disease	Rett syndrome-classical	Female	4933
c.27-?_*?del (deletion of exons 3 and 4)	p.Arg9?	exonic deletion	N-term	Mutation associated with disease	Rett syndrome-classical	Female	4934
c.27-?_*?del (deletion of exons 3 and 4)	p.Arg9?	exonic deletion	N-term	Mutation associated with disease	Rett syndrome-classical	Female	4935
c.1233_1243del11	p.Ser411fs	frameshift insertion or deletion	C-term	Unknown	Not Rett synd.-learning disability	Female	4967
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	5045
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	5046
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	5047
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	5048
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	5049
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	5050
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	5051
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	5052
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	5053
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-not certain	Female	5054
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	5055
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	5056
c.502C>T	p.Arg168*	nonsense	inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	5057
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	5058
c.1155_1166del12	p.Leu386_Pro389del	in-frame insertion or deletion	C-term	Unknown	Rett syndrome-atypical	Female	5059
c.869_880delinsCACA	p.Glu290Alafs*38	frameshift combined insertion and deletion	TRD, C-term	Mutation associated with disease	Rett syndrome-classical	Female	5060
c.1437G>A	p.Thr479Thr	silent	C-term	Silent polymorphism	Rett syndrome-atypical	Female	5061
c.767_1175del409	p.Lys256Serfs*17	frameshift insertion or deletion	TRD-NLS, C-term	Mutation associated with disease	Rett syndrome-classical	Female	5062
c.1101_1201del101	p.His367fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	5063
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	5064
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-not certain	Female	5065
c.710dupG	p.Gly238fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	5066
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	5067
c.1189G>A	p.Glu397Lys	missense	C-term	Polymorphism not causing disease	Rett syndrome-not certain	Female	5068
c.602C>T	p.Ala201Val	missense	inter-domain region	Polymorphism not causing disease	Rett syndrome-not certain	Female	5069
c.582C>T	p.Ser194Ser	silent	inter-domain region	Silent polymorphism	Rett syndrome-not certain	Female	5070
c.1152_*29del	p.Pro385_Ser486delinsAsnLysAsnLysGlySerCysCysLeuPheSerLeuTrpValGlyLeu	in-frame insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-atypical	Female	5071
c.602C>T	p.Ala201Val	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	5078
c.1180_1181insT	p.Glu394Valfs*11	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	5110
c.398G>A	p.Arg133His	missense	MBD	Unknown	Rett syndrome-atypical	Female	5112
c.-143_-138dup	p.(=)	in-frame insertion or deletion	N-term	Polymorphism not causing disease	Not Known	Female	5113
c.-114_-104del11	p.(=)	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-classical	Female	5121
c.-113_-106del8	p.(=)	frameshift insertion or deletion	N-term	Mutation associated with disease	Not Rett synd.-Rett-like	Female	5122
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	5123
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Not Rett synd.-Rett-like	Female	5124
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	5125
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Not Rett synd.-intellectual disability	Female	5126
c.766A>T	p.Lys256*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	5127
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	5128
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	5129
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	5130
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Not Rett synd.-Rett-like	Female	5131
c.925C>T	p.Arg309Trp	missense	TRD	Unknown	Not Rett synd.-intellectual disability	Female	5132
c.962_1267delinsG	p.Lys321Serfs*13	frameshift combined insertion and deletion	C-term	Mutation associated with disease	Not Rett synd.-Rett-like	Female	5133
c.[1123_1189del;1249_1270del]	p.Ser375Argfs*12	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-atypical	Female	5134
c.1157_1197del41	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Not Rett synd.-Rett-like	Female	5135
c.-167_-99del	p.(=)	exonic deletions	N-term	Mutation associated with disease	Rett syndrome-atypical	Female	5136
c.184-?_1065+?del	p.?	exonic deletions	MBD	Mutation associated with disease	Rett syndrome-classical	Female	5137
c.1044-?_1442+?del	p.?	exonic deletions	C-term	Mutation associated with disease	Rett syndrome-atypical	Female	5138
c.1044-?_1442+?del	p.?	exonic deletions	C-term	Mutation associated with disease	Rett syndrome-atypical	Female	5139
c.[184-?_1065+?del; *5338_*5361+?del]	p.?	exonic deletions	C-term	Mutation associated with disease	Rett syndrome-classical	Female	5140
c.377+22C>G	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Rett syndrome-not certain	Female	5141
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Rett syndrome-not certain	Female	5146
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Rett syndrome-not certain	Female	5147
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Rett syndrome-not certain	Female	5148
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Rett syndrome-not certain	Female	5149
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Rett syndrome-not certain	Female	5150
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Rett syndrome-not certain	Female	5151
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Rett syndrome-not certain	Female	5152
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Rett syndrome-not certain	Female	5153
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Rett syndrome-not certain	Female	5154
c.431A>G	p.Lys144Arg	missense	MBD	Polymorphism not causing disease	Not Rett synd.-normal control	Female	5185
c.582C>T	p.Ser194Ser	silent	inter-domain region	Silent polymorphism	Rett syndrome-not certain	Female	5186
c.897C>T	p.Thr299Thr	silent	TRD	Silent polymorphism	Rett syndrome-not certain	Female	5197
c.1189G>A	p.Glu397Lys	missense	C-term	Polymorphism not causing disease	Rett syndrome-not certain	Female	5211
c.1189G>A	p.Glu397Lys	missense	C-term	Polymorphism not causing disease	Rett syndrome-not certain	Female	5212
c.1206C>T	p.Pro402Pro	silent	C-term	Silent polymorphism	Rett syndrome-not certain	Female	5216
c.1233C>T	p.Ser411Ser	silent	C-term	Silent polymorphism	Rett syndrome-not certain	Female	5217
c.1433G>A	p.Arg478Gln	missense	C-term	Polymorphism not causing disease	Not Rett synd.-normal control	Female	5225
c.*14G>A	3'UTR variation	3'UTR variation	3'UTR	Unknown	Rett syndrome-not certain	Female	5226
c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Rett syndrome-not certain	Female	5228
c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Rett syndrome-not certain	Female	5229
c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-normal control	Female	5230
c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-normal control	Female	5231
c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-normal control	Female	5232
c.-113C>T	p.(=)	splicing	N-term	Mutation associated with disease	Rett syndrome-classical	Female	5233
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-preserved speech	Female	5234
c.[502C>T;1180G>A];[832G>A]	p.[Arg168*];[Ala278Thr]	nonsense, missense	inter-domain region, TRD, C-term	Mutation associated with disease	Rett syndrome-not certain	Female	5235
c.832G>A	p.Ala278Thr	missense	TRD	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	5236
c.[678delT];[378-109A>G;518C>G]	p.[Gln227Lysfs*21];[Pro173Arg]	frameshift insertion or deletion, intronic variation, missense	TRD, intronic, inter-domain region	Mutation associated with disease	Rett syndrome-not certain	Female	5238
c.[378-109A>G;518C>G]	p.Pro173Arg	intronic variation, missense	intronic, inter-domain region	Unknown	Not Rett synd.-unaffected family member	Female	5239
c.[905C>T;917G>A]	p.[Pro302Leu;Arg306His]	missense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	5240
c.[502C>T;880C>T]	p.Arg168*	nonsense	inter-domain region, TRD	Mutation associated with disease	Rett syndrome-not certain	Female	5242
c.[203C>G;1094_1138del45]	p.Ser68*	nonsense, in-frame insertion or deletion	N-term, C-term	Mutation associated with disease	Rett syndrome-not certain	Female	5243
c.[1104_1106del3;1157_1197del41]	p.[His372del;Leu386fs]	in-frame insertion or deletion, frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	5244
c.[1089_1129del41;1156_1197del42]	p.Lys364Glyfs*13	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	5245
c.[1024_1025insAG;1029delG;1155_1209del55]	p.Proro342_Proro403delins44	combined in-frame insertion and deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	5246
c.[1137C>T;1157_1200del44]	p.[Pro379Pro;Leu386fs]	silent, frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	5247
c.[488_995del508;1061_1062delGC;1229_1240del12]	p.Gly163Alafs*5	in-frame insertion or deletion, frameshift insertion or deletion	inter-domain region, TRD, C-term	Mutation associated with disease	Rett syndrome-not certain	Female	5248
c.[401C>G;1168_1173del6]	p.[Ser134Cys;Pro390_Pro391del]	missense, in-frame insertion or deletion	MBD, C-term	Mutation associated with disease	Rett syndrome-not certain	Female	5249
c.1408_1411del4insTG	p.Asn470Trpfs*16	combined frameshift insertion and deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	5251
c.820_1153del334ins67	uncertain	combined in-frame insertion and deletion	TRD, C-term	Mutation associated with disease	Rett syndrome-not certain	Female	5252
c.855_859del5ins12	p.Ala287Lysfs*46	combined frameshift insertion and deletion	C-term	Mutation associated with disease	Rett syndrome-not certain	Female	5253
c.925C>T	p.Arg309Trp	missense	TRD	Unknown	Rett syndrome-atypical	Female	5325
c.605G>A	p.Ala202His	Missense	Inter-domain	Unknown	Rett syndrome-atypical	Female	5330
c.*156G>T	Intronic variation	3' UTR variation	3' UTR	Polymorphism not causing disease	Not Rett synd.-mental retardation	Female	6875
c.*92C>T	Intronic variation	3' UTR variation	3' UTR	Polymorphism not causing disease	Not Rett synd.-mental retardation	Female	6874
c.*9G>A	Intronic variation	3' UTR variation	3' UTR	Polymorphism not causing disease	Not Rett synd.-mental retardation	Female	6873
c.1449G>A	p.(=)	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-mental retardation	Female	6872
c.1330G>A		Missense	C-term	Polymorphism not causing disease	Not Rett synd.-mental retardation	Female	6871
c.1330G>A		Missense	C-term	Polymorphism not causing disease	Not Rett synd.-mental retardation	Female	6870
c.1330G>A		Missense	C-term	Polymorphism not causing disease	Not Rett synd.-mental retardation	Female	6869
c.1189G>A		Missense	C-term	Polymorphism not causing disease	Not Rett synd.-mental retardation	Female	6867
c.1197C>T	p.(=)	silent	C-term	Silent polymorphism	Not Rett synd.-mental retardation	Female	6868
c.1189G>A		Missense	C-term	Polymorphism not causing disease	Not Rett synd.-mental retardation	Female	6866
c.1168_1173del6		frameshift insertion or deletion	C-term	Unknown	Not Rett synd.-mental retardation	Female	6865
c.1133C>G		Missense	C-term	Polymorphism not causing disease	Not Rett synd.-mental retardation	Female	6864
c.1035A>G	p.(=)	silent	C-term	Silent polymorphism	Not Rett synd.-mental retardation	Female	6863
c.996C>T	p.(=)	silent	C-term	Silent polymorphism	Not Rett synd.-mental retardation	Female	6862
c.897C>T	p.(=)	silent	TRD	Silent polymorphism	Not Rett synd.-mental retardation	Female	6861
c.897C>T	p.(=)	silent	TRD	Silent polymorphism	Not Rett synd.-mental retardation	Female	6860
c.834C>T	p.(=)	silent	TRD	Silent polymorphism	Rett syndrome-atypical	Female	6859
c.819G>T	p.(=)	silent	TRD	Silent polymorphism	Not Rett synd.-mental retardation	Female	6858
c.683C>G		Missense	TRD	Polymorphism not causing disease	Rett syndrome-classical	Female	6857
c.683C>G		Missense	TRD	Polymorphism not causing disease	Not Rett synd.-mental retardation	Female	6856
c.587C>G		Missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-mental retardation	Female	6855
c.582C>T	p.(=)	silent	inter-domain region	Silent polymorphism	Not Rett synd.-autism	Female	6853
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-atypical	Female	6876
c.582C>T	p.(=)	silent	inter-domain region	Silent polymorphism	Not Rett synd.-mental retardation	Female	6854
c.880C>T	p.Arg294*	Missense	TRD	Mutation associated with disease	Not Known	Female	6761
c.392C>A	p.Ala131Asp	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6760
c.317G>A	p.Arg106Gln	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6759
c.1164_1207del44	p.Proro389*	nonsense	C-term	Mutation associated with disease	Rett syndrome-preserved speech	Female	6758
c.1164_1207del44	p.Proro389*	nonsense	C-term	Mutation associated with disease	Rett syndrome-classical	Female	6757
c.1164_1207del44	p.Proro389*	nonsense	C-term	Mutation associated with disease	Rett syndrome-atypical	Female	6756
c.1164_1207del44	p.Proro389*	nonsense	C-term	Mutation associated with disease	Not Known	Female	6755
c.1163_1200del38	p.Pro388Glnfs*4	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-preserved speech	Female	6754
c.1157_1197del41	p.Leu386Hisfs*5	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-atypical	Female	6753
c.1157_1197del41	p.Leu386Hisfs*5	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	6752
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-atypical	Female	6751
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6750
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Not Known	Female	6749
c.857_858dupAA	p.Ala287Lysfs*3	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6748
c.820_823dupAGTG	p.Val275Glufs*57	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6747
c.808C>T	p.Arg270*	nonsense	NLS	Mutation associated with disease	Rett syndrome-classical	Female	6746
c.808C>T	p.Arg270*	nonsense	NLS	Mutation associated with disease	Not Known	Female	6745
c.806delG	p.Gly269Alafs*20	frameshift insertion or deletion	NLS	Mutation associated with disease	Rett syndrome-preserved speech	Female	6744
c.763C>T	p.Arg255*	nonsense	NLS	Mutation associated with disease	Rett syndrome-classical	Female	6743
c.763C>T	p.Arg255*	nonsense	NLS	Mutation associated with disease	Rett syndrome-classical	Female	6742
c.763C>T	p.Arg255*	nonsense	NLS	Mutation associated with disease	Rett syndrome-classical	Female	6741
c.763C>T	p.Arg255*	nonsense	NLS	Mutation associated with disease	Rett syndrome-classical	Female	6740
c.674C>G	p.Pro225Arg	missense	TRD	Mutation associated with disease	Not Known	Female	6739
c.573delC	p.Ser194Alafs*16	frameshift insertion or deletion	Inter-domain region	Mutation associated with disease	Rett syndrome-congenital onset	Female	6738
c.502C>T	p.Arg168*	nonsense	Inter-domain region	Mutation associated with disease	Not Rett synd.-mental retardation and autism combined	Female	6737
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6736
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6735
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6733
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-congenital onset	Female	6734
c.468C>G	p.Asp156Glu	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6732
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6731
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6730
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Not Known	Female	6729
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-preserved speech	Female	6727
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6728
c.[1104_1106del3(;) 1157_1197del41]	p.[His372del(;) Leu386fs]	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	6676
c.[1161_1166del6; 1180_1205del26]	p.[Pro390_Pro391del; Glu394fs]	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	6675
c.1164_1207del44	p.Pro389*	frameshift insertion or deletion	C-term	Mutation associated with disease	Not Rett synd.-not certain	Female	6674
c.1085_1197del113	p.Pro362fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	6671
c.1053_1156del104	p.Lys352fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	6672
c.1105delC	p.His369fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	6670
c.1135_1142del8	p.Pro379fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Not Rett synd.-mental retardation	Female	6669
c.1135_1142del8	p.Pro379fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Not Rett synd.-mental retardation	Female	6668
c.753_754dup	p.Gly252fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6667
c.*14G>A	3'UTR variation	3'UTR variation	3'UTR	Unknown	Not Rett synd.-unaffected family member	Female	6666
c.*14G>A	3'UTR variation	3'UTR variation	3'UTR	Unknown	Rett syndrome-forme fruste	Female	6665
c.1164_1207del44	p.Pro389*	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-forme fruste	Female	6664
c.1164_1207del44	p.Pro389*	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	6663
c.1164_1207del44	p.Pro389*	frameshift insertion or deletion	C-term	Mutation associated with disease	Not Rett synd.-mental retardation	Female	6662
c.1164_1207del44	p.Pro389*	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	6661
c.1157_1200del44	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	6660
c.1157_1200del44	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	6659
c.1157_1200del44	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	6658
c.1152_1292del141	p.Pro385_Lys431del	in-frame insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	6657
c.1157_1184del28	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	6656
c.1157_1197del41	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-forme fruste	Female	6655
c.1157_1197del41	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	6654
c.1157_1197del41	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-forme fruste	Female	6653
c.1157_1197del41	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	6652
c.1157_1199del43	p.Leu386fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	6651
c.1168_1173del6	p.Pro390_Pro391del	frameshift insertion or deletion	C-term	Unknown	Not Rett synd.-mild mental retardation	Female	6650
c.1168_1173del6	p.Pro390_Pro391del	frameshift insertion or deletion	C-term	Unknown	Not Rett synd.-mild mental retardation	Female	6649
c.1168_1173del6	p.Pro390_Pro391del	frameshift insertion or deletion	C-term	Unknown	Not Rett synd.-unaffected family member	Female	6648
c.1163_1188del26	p.Pro388fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	6646
c.1173_1207del35	p.Glu392*	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	6645
c.1324_1364del41	p.Thr442fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	6644
c.1197dupC	p.Thr400fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	6643
c.226delG	p.Glu76fs	frameshift insertion or deletion	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6641
c.1308_1309delTC	p.Gln437fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	6642
c.229_238del10	p.Ala77fs	frameshift insertion or deletion	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6640
c.1147_1174del28	p.Leu383fs	frameshift insertion or deletion	C-term	Mutation associated with disease	Not Rett synd.-mental retardation	Female	6639
c.478dupA	p.Thr160fs	frameshift insertion or deletion	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6637
c.390dupA	p.Ala131fs	frameshift insertion or deletion	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6636
c.695dupG	p.Lys233fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6635
c.842_843insT	p.Glu282fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6634
c.710dupG	p.Gly238fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6633
c.710delG	p.Gly237fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6632
c.829delG	p.Ala277fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6631
c.856_859delAAAG	p.Lys286fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6630
c.863_881del19	p.Val288fs	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6629
c.-114_-104del11	p.(=)	frameshift insertion or deletion	exon 1	Mutation associated with disease	Not Rett synd.-mental retardation	Female	6628
c.-146_-138del9	p.(=)	in-frame insertion or deletion	exon 1	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	6627
c.-146_-138del9	p.(=)	in-frame insertion or deletion	exon 1	Polymorphism not causing disease	Rett syndrome-classical	Female	6626
c.-160A>T	p.(=)	missense	exon 1	Mutation associated with disease	Rett syndrome-classical	Female	6625
c.-114_-104dup11	p.(=)	frameshift insertion or deletion	exon 1	Mutation associated with disease	Rett syndrome-classical	Female	6624
c.-156C>T	p.(=)	missense	exon 1	Mutation associated with disease	Rett syndrome-classical	Female	6623
c.-156C>T	p.(=)	missense	exon 1	Mutation associated with disease	Not Rett synd.-mental retardation	Female	6622
c.[502C>T; 880C>T]	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6621
c.403A>G	p.Lys135Glu	missense	MBD	Unknown	Rett syndrome-preserved speech	Female	6618
c.914A>C	p.Lys305Thr	missense	TRD	Unknown	Rett syndrome-classical	Female	6617
c.961A>G	p.Lys321Glu	missense	C-term	Unknown	Rett syndrome-classical	Female	6616
c.1141C>T	p.Pro381Ser	missense	C-term	Unknown	Rett syndrome-preserved speech	Female	6615
c.[401C>G; 1168_1173del6]	p.[Ser134Cys; Pro390_Pro391del]	missense, in-frame insertion or deletion	MBD, C-term	Mutation associated with disease	Rett syndrome-classical	Female	6613
c.667A>T	p.Lys223*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6612
c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Rett syndrome-classical	Female	6611
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	6610
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	6609
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	6608
c.806delG	p.Gly269fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	6606
c.808delC	p.Arg270fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	6605
c.808delC	p.Arg270fs	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	6604
c.378-2A>C	intronic variation	intronic variation	intronic	Mutation associated with disease	Rett syndrome-classical	Female	6603
c.146C>A	p.Ser49*	nonsense	N-term	Mutation associated with disease	Rett syndrome-classical	Female	6602
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Not Rett synd.-mental retardation	Female	6601
c.298C>G	p.Leu100Val	missense	MBD	Unknown	Rett syndrome-classical	Female	6599
c.302C>G	p.Pro101Arg	missense	MBD	Unknown	Rett syndrome-classical	Female	6598
c.302C>G	p.Pro101Arg	missense	MBD	Unknown	Rett syndrome-classical	Female	6597
c.401C>G	p.Ser134Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6596
c.401C>G	p.Ser134Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6595
c.401C>T	p.Ser134Phe	missense	MBD	Unknown	Rett syndrome-classical	Female	6594
c.423C>G	p.Tyr141*	nonsense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6592
c.423C>G	p.Tyr141*	nonsense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6593
c.518C>G	p.Pro173Arg	missense	Inter-domain	Unknown	Not Rett synd.-unaffected family member	Female	6590
c.[518C>G(;)678delT]	p.[Pro173Arg(;)Gln227fs]	missense	inter-domain, TRD	Mutation associated with disease	Rett syndrome-classical	Female	6589
c.535C>T	p.Pro179Ser	missense	inter-domain	Unknown	Not Rett synd.-mental retardation	Female	6588
c.611C>A	p.Ser204*	nonsense	inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6587
c.611C>G	p.Ser204*	nonsense	inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6586
c.674C>G	p.Pro225Arg	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6585
c.679C>T	p.Gln227*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6584
c.730C>T	p.Gln244*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6583
CDKL5: c.119C>T	CDKL5: p.A40V	missense	CDKL5	Mutation associated with disease	Not Rett synd.-congenital onset	Female	6582
c.1132G>T	p.Ala378Ser	missense	C-term	Unknown	Not Rett synd.-unaffected family member	Female	6581
c.1210G>A	p.Glu404Lys	missense	C-term	Unknown	Rett syndrome-classical	Female	6579
c.806delG	p.Gly269fs	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	6578
c.317G>A	p.Arg106Gln	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6577
c.398G>C	p.Arg133Pro	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6576
c.1114C>T	p.His372Tyr	missense	C-term	Unknown	Not Known	Female	6575
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Not Rett synd.-mental retardation	Female	6574
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6573
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6572
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6571
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6570
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6569
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6568
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6567
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6566
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6565
c.316C>T	p.Arg106Trp	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6564
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6563
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6562
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6561
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6560
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6559
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6558
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6557
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6556
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6555
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6554
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6553
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6552
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6551
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6550
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6549
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6548
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6547
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6546
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6545
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6544
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6543
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6542
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6541
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6540
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6539
c.397C>T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6538
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6537
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6536
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6535
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6534
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6533
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6532
c.455C>G	p.Pro152Arg	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6531
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6530
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6529
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6528
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6527
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6526
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6525
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6524
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6523
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6522
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6521
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6520
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6519
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6518
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6517
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6516
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6515
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6514
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6513
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6512
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6511
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6510
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6509
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6508
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6507
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6506
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6505
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6504
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6503
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6502
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6501
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6500
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6499
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6498
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6497
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6496
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6495
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6494
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6493
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6492
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6491
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6490
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6489
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6488
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6487
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6486
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6485
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6484
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6483
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6482
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6481
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6480
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6479
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6478
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6477
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6476
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6475
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6474
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6473
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6472
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6471
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6470
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6469
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6468
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6467
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6466
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6465
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6464
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6463
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6462
c.502C>T	p.Arg168*	nonsense	Inter-domain	Mutation associated with disease	Rett syndrome-classical	Female	6461
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6460
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6459
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6458
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6457
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6456
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6455
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6454
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6453
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-congenital	Female	6452
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6451
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	6450
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	6449
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	6448
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	6447
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	6446
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	6445
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	6444
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	6443
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	6441
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	6442
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	6440
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	6439
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	6438
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	6437
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	6436
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	6435
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	6434
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	6432
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	6433
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	6431
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6429
c.808C>T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	6430
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6428
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Not Rett synd.-mental retardation	Female	6427
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6426
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6425
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6424
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6423
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6422
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6421
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6420
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-forme fruste	Female	6419
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6418
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6417
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6416
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6415
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6414
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6413
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6412
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6411
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Not Known	Female	6410
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6409
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6408
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6407
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6405
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6406
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6404
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6403
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6402
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6401
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6400
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6399
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6398
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6397
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6396
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6394
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6395
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6393
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6392
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6391
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6390
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6388
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6389
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6387
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6386
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6385
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6384
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6383
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6382
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Not Rett synd.-mental retardation and autism	Female	6381
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6380
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6379
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6378
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6377
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6376
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6374
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6375
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-forme fruste	Female	6373
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6372
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Not Rett synd.-sporadic mental retardation	Female	6371
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6370
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6369
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6367
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6368
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6366
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6365
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6364
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6363
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6361
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Not Rett synd.-sporadic mental retardation	Female	6362
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6360
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6359
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6358
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6357
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6356
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	6355
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Not Rett synd.-sporadic mental retardation	Female	6354
c.27-8C>G	intronic variation	intronic variation	intronic	Unknown	Rett syndrome-classical	Female	6353
c.27-2A>G	intronic variation	intronic variation	intronic	Mutation associated with disease	Rett syndrome-classical	Female	6352
c.27-2A>G	intronic variation	intronic variation	intronic	Mutation associated with disease	Rett syndrome-classical	Female	6351
c.378-3C>G	intronic variation	intronic variation	intronic	Mutation associated with disease	Rett syndrome-classical	Female	6350
c.965C>T	p.Pro322Leu	missense	C-term	Unknown	Rett syndrome-classical	Female	6349
c.965C>T	p.Pro322Leu	missense	C-term	Unknown	Rett syndrome-classical	Female	6348
c.*98dupA	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	6347
c.[964C>G(;)*98dupA]	p.Pro322Ala	missense, 3'UTR variation	C-term	Unknown	Rett syndrome-classical	Female	6346
c.-116_-114dupAGG	p.(=)	in-frame insertion or deletion	N-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	6345
c.-116_-114dupAGG	p.(=)	in-frame insertion or deletion	N-term	Polymorphism not causing disease	Rett syndrome-classical	Female	6344
c.469T>A	p.Phe157Ile	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6342
c.-159T>C	p.(=)	missense	N-term	Mutation associated with disease	Rett syndrome-classical	Female	6343
c.378-17delT		intronic	intronic	Polymorphism not causing disease	Not Rett synd.-mental retardation	Female	6852
c.378-17delT		intronic	intronic	Polymorphism not causing disease	Not Rett synd.-autism	Female	6851
c.378-17delT		intronic	intronic	Polymorphism not causing disease	Not Rett synd.-autism	Female	6850
c.378-65C>G		intronic	intronic	Polymorphism not causing disease	Not Rett synd.-mental retardation	Female	6849
c.378-74C>T		intronic	intronic	Polymorphism not causing disease	Not Rett synd.-mental retardation	Female	6848
c.377+22C>G		intronic	intronic	Polymorphism not causing disease	Not Rett synd.-mental retardation	Female	6847
c.375C>A		silent	MBD	Silent polymorphism	Not Rett synd.-mental retardation	Female	6846
c.-116_-114dupAGG	p.(=)	in-frame insertion or deletion	N-term	Polymorphism not causing disease	Not Rett synd.-mental retardation	Female	6845
c.-143_-138dup6	p.(=)	in-frame insertion or deletion	5'UTR	Polymorphism not causing disease	Not Rett synd.-autism	Female	6844
c.-143_-138dup6	p.(=)	in-frame insertion or deletion	5'UTR	Polymorphism not causing disease	Not Rett synd.-mental retardation	Female	6843
c.-143_-138dup6	p.(=)	in-frame insertion or deletion	5'UTR	Polymorphism not causing disease	Rett syndrome-atypical	Female	6842
c.-143_-138dup6	p.(=)	in-frame insertion or deletion	5'UTR	Polymorphism not causing disease	Rett syndrome-atypical	Female	6841
c.-395G>T		Missense	5'UTR	Polymorphism not causing disease	Not Rett synd.-mental retardation	Female	6839
c.1189G>A	p.Glu397Lys	missense	C-term	Polymorphism not causing disease	Not Rett synd.-not certain	Female	6914
c.1255C>T	p.Pro419Ser	missense	C-term	Unknown	Not Rett synd.-not certain	Female	6912
c.1316C>T	p.Ala439Val	missense	C-term	Polymorphism not causing disease	Not Rett synd.-unaffected family member	Female	6909
c.590C>T	p.Thr197Met	missense	Inter-domain region	Polymorphism not causing disease	Not Rett synd.-	Female	6908
c.1189G>A	p.(Glu397Lys)	missense	C-term	Polymorphism not causing disease	Not Rett synd.-not certain	Female	6905
c.1330G>A	p.Ala444Thr	missense	C-term	Polymorphism not causing disease	Not Rett synd.-	Female	6906
c.1358G>A	p.Arg453Gln	missense	C-term	Unknown	Not Known	Female	6904
c.752C>G	p.Pro251Arg	missense	TRD	Unknown	Not Known	Female	6903
c.1189G>A	p.Glu397Lys	nonsense	C-term	Polymorphism not causing disease	Not Known	Female	6902
c.1330G>A	p.Ala444Thr	missense	C-term	Polymorphism not causing disease	Not Known	Female	6896
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-not certain	Female	6897
c.617G>C	p.(Gly206Ala)	missense	TRD	Unknown	Not Known	Female	6900
c.397C > T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-preserved speech	Female	6994
c.916C > T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-preserved speech	Female	6996
c.397C > T	p.Arg133Cys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	6997
c.455C>T	p.Pro152Leu	missense	MBD	Mutation associated with disease	Not Rett synd.-autism only	Female	7002
c.880C>T	p.Arg294*	nonsense	TRD	Mutation associated with disease	Not Rett synd.-autism only	Female	7004
c.1410_1411delCA	p.Asn470Lysfs*16	frameshift insertion or deletion		Mutation associated with disease	Not Rett synd.-not certain	Female	7007
c.1410_1411delCA	p.Asn470Lysfs*16	frameshift insertion or deletion		Mutation associated with disease	Not Rett synd.-not certain	Female	7008
[c.695 G > T; c.880C > T]	p.[Gly232Val;Arg294*]	missense,nonsense	TRD	Mutation associated with disease	Rett syndrome-	Female	7009
c.473C > T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	7010
c.473C > T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	7011
c.473C > T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	7012
c.473C > T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	7013
c.808C > T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	7014
c.808C > T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	7015
c.808C > T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	7016
c.808C > T	p.Arg270*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	7017
c.763C > T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	7018
c.763C > T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	7019
c.502C > T	p.Arg168*	nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	7020
c.502C > T	p.Arg168*	nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	7021
c.1384-1385del GT	p.Val462Phefs*24	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	7022
c.763C > T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	7023
c.1205_1206insT	p.Glu404*	nonsense	C-term	Mutation associated with disease	Rett syndrome-classical	Female	7024
c.164_182del	p.Pro56GlnfsTer63	frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-classical	Female	7025
c.1148_1193del	p.Leu383Profs*11	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	7026
c.717del C	p.Thr240Profs*8	frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-classical	Female	7027
c.806del G	p.Gly269Alafs*20	frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	7028
c.1132_1207del77	p.Ala378Leufs*6	frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	7029
c.917G > A	p.Arg306His	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	7030
c.427G>A	p.Glu143Lys	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	7032
c.502C>T	p.Arg168*	nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-classical	Female	7033
c.473C>T	p.Thr158Met	missense	MBD	Mutation associated with disease	Rett syndrome-classical	Female	7034
c.916C>T	p.Arg306Cys	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	7035
c.905C>G	p.Pro302Arg	missense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	7036
c.763C>T	p.Arg255*	nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Female	7037
c.799A>T	p.Lys267*	nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Female	7038
c.1153_1190del	p.Pro385Glyfs*7	frameshift combined insertion and deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	7039
c.1004_1173delinsCTGTGTAA	p.Gly335_Ser486delinsAlaVal	frameshift combined insertion and deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Female	7042
c.[880C>T];[1326C>T]	p.[Arg294*];[Thr442Thr]	Nonsense, silent	TRD, C-term	Mutation associated with disease	Rett syndrome-Not certain	Unknown	128
c.[502C>T];[695G>C]	p.[Arg168*];[Gly232Ala]	Nonsense, missense	Inter-domain region, TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	129
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Unknown	130
c.[752C>T];[1038_1191del154]	p.[Pro251Leu];[Ser346fs]	Missense, frameshift insertion or deletion	TRD, C-term	Mutation associated with disease	Rett syndrome-Not certain	Unknown	131
c.[502C>T];[695G>C]	p.[Arg168*];[Gly232Ala]	Nonsense, missense	Inter-domain region, TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	132
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	133
c.[502C>T];[695G>C]	p.[Arg168*];[Gly232Ala]	Nonsense, missense	Inter-domain region, TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	134
c.601dupG	p.Ala201fs	Frameshift insertion or deletion	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Unknown	135
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	136
c.806delG	p.Gly269fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Unknown	137
c.849_1236del388	p.Lys284fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	138
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	139
c.785_818del34	p.Gln262fs	Frameshift insertion or deletion	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Unknown	140
c.602C>T	p.Ala201Val	Missense	Inter-domain region	Polymorphism not causing disease	Rett syndrome-Not certain	Unknown	141
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Unknown	142
c.914_1172del259	p.Lys305fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	143
c.905C>A	p.Pro302His	Missense	TRD	Unknown	Rett syndrome-Not certain	Unknown	144
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	145
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	146
c.168C>T	p.Pro56Pro	Silent	N-term	Silent polymorphism	Rett syndrome-Not certain	Unknown	147
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	148
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	224
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	225
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	226
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	227
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	228
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	229
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	230
c.481G>T	p.Gly161Trp	Missense	MBD	Unknown	Rett syndrome-Not certain	Unknown	231
c.905C>G	p.Pro302Arg	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	232
c.905C>G	p.Pro302Arg	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	233
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	234
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	235
c.146C>A	p.Ser49*	Nonsense	N-term	Mutation associated with disease	Rett syndrome-Not certain	Unknown	236
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Unknown	237
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Unknown	238
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Unknown	239
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	240
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	241
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	242
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	243
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	244
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	245
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Unknown	246
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Unknown	247
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Unknown	248
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	249
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	250
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	251
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	252
c.378-2A>C	intronic variation	Intronic variation	Intronic	Mutation associated with disease	Rett syndrome-Not certain	Unknown	253
c.439delG	p.Asp147fs	Frameshift insertion or deletion	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	254
c.731_1166del436	p.Gln244fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	255
c.747_751dup5	p.Pro251fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	256
c.1150_1192del43	p.Pro384fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Unknown	257
c.1157_1187del31	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Unknown	258
c.1158_1200del43	p.Pro387fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Unknown	259
c.1164_1206del43	p.Pro389fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Unknown	260
c.1164_1206del43	p.Pro389fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Unknown	261
c.*93G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Non Rett syndrome control	Unknown	381
c.1197C>T	p.Pro399Pro	Silent	C-term	Silent polymorphism	Rett syndrome-Not certain	Unknown	1008
c.582C>T	p.Ser194Ser	Silent	Inter-domain region	Silent polymorphism	Rett syndrome-Not certain	Unknown	1006
c.582C>T	p.Ser194Ser	Silent	Inter-domain region	Silent polymorphism	Rett syndrome-Not certain	Unknown	1005
c.582C>T	p.Ser194Ser	Silent	Inter-domain region	Silent polymorphism	Rett syndrome-Not certain	Unknown	1004
c.582C>T	p.Ser194Ser	Silent	Inter-domain region	Silent polymorphism	Rett syndrome-Not certain	Unknown	1003
c.375C>A	p.Ile125Ile	Silent	MBD	Silent polymorphism	Rett syndrome-Not certain	Unknown	1002
c.1163_1188del26	p.Pro388fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Forme fruste	Unknown	918
c.1163_1216del54	p.Pro388_Pro405del	In-frame insertion or deletion	C-term	Unknown	Rett syndrome-Not certain	Unknown	919
c.1157_1200del44	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Unknown	917
c.1151_1188del38	p.Pro384fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Unknown	915
c.1154_1197del44	p.Pro385fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Forme fruste	Unknown	916
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Unknown	913
c.1145_1194del50	p.Leu382fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Unknown	914
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Unknown	911
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Classical	Unknown	912
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Forme fruste	Unknown	909
c.905C>T	p.Pro302Leu	Missense	TRD	Unknown	Rett syndrome-Classical	Unknown	910
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	907
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	908
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	905
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	906
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Unknown	903
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	904
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Unknown	901
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Classical	Unknown	902
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Unknown	898
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-	Unknown	899
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Unknown	896
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Unknown	897
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Unknown	894
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Unknown	895
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Unknown	892
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Unknown	893
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Forme fruste	Unknown	890
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Unknown	891
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Unknown	888
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Forme fruste	Unknown	889
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Unknown	886
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Unknown	887
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Unknown	884
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Unknown	885
c.423C>G	p.Tyr141*	Nonsense	MBD	Mutation associated with disease	Rett syndrome-Classical	Unknown	882
c.423C>G	p.Tyr141*	Nonsense	MBD	Mutation associated with disease	Rett syndrome-Classical	Unknown	883
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Forme fruste	Unknown	880
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Preserved speech	Unknown	881
c.76delC	p.Leu26fs	Frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-Classical	Unknown	878
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Unknown	879
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Unknown	877
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Unknown	876
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Unknown	875
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	874
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	873
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	872
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	871
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	870
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	869
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	868
c.463T>A	p.Phe155Ile	Missense	MBD	Unknown	Rett syndrome-Not certain	Unknown	867
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	866
c.291C>A	p.Asp97Glu	Missense	MBD	Unknown	Rett syndrome-Not certain	Unknown	865
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	864
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	863
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	862
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	861
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	860
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	859
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	858
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	857
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	856
c.[1053_1054ins10; 1145_1199del55]	p.Lys352fs	in-frame combined insertion and deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Unknown	855
c.1123_1191del69	p.Ser375_Glu397del	In-frame insertion or deletion	C-term	Unknown	Rett syndrome-Not certain	Unknown	854
c.1101_1201del101	p.His367fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Unknown	853
c.[1103_1172del; 1185_1191del]	p.His368fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Unknown	852
c.1159_1201del43	p.Pro387fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Unknown	851
c.1233C>T	p.Ser411Ser	Silent	C-term	Silent polymorphism	Rett syndrome-Classical	Unknown	850
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Unknown	844
c.620dupT	p.Gln208fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Classical	Unknown	843
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Classical	Unknown	842
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Unknown	841
c.464T>C	p.Phe155Ser	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Unknown	840
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Classical	Unknown	839
c.582C>T	p.Ser194Ser	Silent	Inter-domain region	Silent polymorphism	Rett syndrome-Not certain	Unknown	1193
c.897C>T	p.Thr299Thr	Silent	TRD	Silent polymorphism	Rett syndrome-Not certain	Unknown	1194
c.989_994delinsGCATCTTCTCCTCTTT	p.Glu330fs	Frameshift combined insertion and deletion	C-term	Mutation associated with disease	Rett syndrome-Classical	Unknown	1203
c.[=/167_168delCC]	p.[=/Pro56fs]	Frameshift insertion or deletion	C-term	Mutation associated with disease	Not Rett synd.-not certain	Unknown	1204
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1273
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1274
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1275
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1276
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1277
c.316C>T	p.Arg106Trp	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1278
c.331A>G	p.Arg111Gly	Missense	MBD	Unknown	Rett syndrome-Not certain	Unknown	1279
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1280
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1281
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1282
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1283
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1284
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1285
c.403A>G	p.Lys135Glu	Missense	MBD	Unknown	Rett syndrome-Not certain	Unknown	1286
c.403A>G	p.Lys135Glu	Missense	MBD	Unknown	Rett syndrome-Not certain	Unknown	1287
c.455C>G	p.Pro152Arg	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1288
c.455C>G	p.Pro152Arg	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1289
c.455C>G	p.Pro152Arg	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1290
c.455C>G	p.Pro152Arg	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1291
c.467A>G	p.Asp156Gly	Missense	MBD	Unknown	Rett syndrome-Not certain	Unknown	1292
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1293
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1294
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1295
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1296
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1297
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1298
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1299
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1300
c.629A>T	p.Lys210Ile	Missense	TRD	Unknown	Rett syndrome-Not certain	Unknown	1301
c.905C>G	p.Pro302Arg	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1302
c.905C>G	p.Pro302Arg	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1303
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1304
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1305
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1306
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1307
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1308
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1309
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1310
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1311
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1312
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1313
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1314
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1315
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1316
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1317
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1318
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1319
c.508C>T	p.Gln170*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1320
c.613G>T	p.Glu205*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1321
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1322
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1323
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1324
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1325
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1326
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1327
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1328
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1329
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1330
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1331
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1332
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1333
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1334
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1335
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1336
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1337
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1338
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1339
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1340
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1341
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1342
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1343
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1344
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1345
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1346
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1347
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1348
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1349
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1350
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1351
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1352
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1353
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1354
c.27-6C>G	p.Arg9fs	Intronic variation	Intronic	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1355
c.377+2T>G	intronic variation	Intronic variation	Intronic	Unknown	Rett syndrome-Not certain	Unknown	1356
c.201delG	p.Ser68fs	Frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1357
c.710delG	p.Gly237fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1358
c.710delG	p.Gly237fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1359
c.710delG	p.Gly237fs	Frameshift insertion or deletion	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1360
c.1164_1208del45	p.Pro389_Pro403del	In-frame insertion or deletion	C-term	Unknown	Rett syndrome-Not certain	Unknown	1361
c.1163_*39del338	p.Pro388fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1362
c.1157_1197del41	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1363
c.1157_1197del41	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1364
c.1157_1197del41	p.Leu386fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1365
c.1030_1195del166insGT	p.Arg344fs	frameshift combined insertion and deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1366
c.1097_*13del378	p.His366_Ser486delins22	In-frame insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1367
c.1096_1201del106	p.His366fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1368
c.1132_1202del71	p.Ala378fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1369
c.517C>G	p.Pro173Ala	Missense	Inter-domain region	Unknown	Rett syndrome-Not certain	Unknown	1370
c.608C>T	p.Thr203Met	Missense	Inter-domain region	Polymorphism not causing disease	Rett syndrome-Not certain	Unknown	1371
c.378-17delT	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Rett syndrome-Not certain	Unknown	1372
c.897C>T	p.Thr299Thr	Silent	TRD	Silent polymorphism	Rett syndrome-Not certain	Unknown	1373
c.777C>T	p.Ala259Ala	Silent	TRD-NLS	Silent polymorphism	Rett syndrome-Not certain	Unknown	1374
c.777C>T	p.Ala259Ala	Silent	TRD-NLS	Silent polymorphism	Rett syndrome-Not certain	Unknown	1375
c.377+22C>G	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Known	Unknown	1383
c.377+22C>G	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Known	Unknown	1384
c.411delG	p.Glu137fs	Frameshift insertion or deletion	MBD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1484
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Unknown	1485
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Unknown	1486
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Unknown	1487
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Unknown	1488
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Unknown	1489
c.502C>T	p.Arg168*	Nonsense	Inter-domain region	Mutation associated with disease	Rett syndrome-Classical	Unknown	1490
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-Not certain	Unknown	1494
c.1189G>A	p.Glu397Lys	Missense	C-term	Polymorphism not causing disease	Not Rett synd.-Non Rett syndrome control	Unknown	1502
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-atypical	Unknown	1504
c.397C>T	p.Arg133Cys	Missense	MBD	Mutation associated with disease	Rett syndrome-atypical	Unknown	1505
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-classical	Unknown	1506
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-classical	Unknown	1507
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-atypical	Unknown	1508
c.473C>T	p.Thr158Met	Missense	MBD	Mutation associated with disease	Rett syndrome-atypical	Unknown	1509
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-classical	Unknown	1510
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-atypical	Unknown	1511
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-atypical	Unknown	1512
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-atypical	Unknown	1513
c.763C>T	p.Arg255*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-atypical	Unknown	1514
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Unknown	1515
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Unknown	1516
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Unknown	1517
c.808C>T	p.Arg270*	Nonsense	TRD-NLS	Mutation associated with disease	Rett syndrome-classical	Unknown	1518
c.880C>T	p.Arg294*	Nonsense	TRD	Mutation associated with disease	Rett syndrome-atypical	Unknown	1519
c.916C>T	p.Arg306Cys	Missense	TRD	Mutation associated with disease	Rett syndrome-atypical	Unknown	1520
c.423C>G	p.Tyr141*	Nonsense	MBD	Mutation associated with disease	Rett syndrome-classical	Unknown	1521
c.468C>G	p.Asp156Glu	Missense	MBD	Unknown	Rett syndrome-classical	Unknown	1522
c.674C>G	p.Pro225Arg	Missense	TRD	Mutation associated with disease	Rett syndrome-atypical	Unknown	1523
c.1190dupA	p.Asp398fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-classical	Unknown	1524
c.100_103delGATA	p.Asp34fs	Frameshift insertion or deletion	N-term	Mutation associated with disease	Rett syndrome-classical	Unknown	1525
c.451delG	p.Asp151fs	Frameshift insertion or deletion	MBD	Mutation associated with disease	Rett syndrome-atypical	Unknown	1526
c.1127_1179del53	p.Pro376fs	Frameshift insertion or deletion	C-term	Mutation associated with disease	Rett syndrome-atypical	Unknown	1527
c.[881_1169del289; 1189_1196del8]	p.Arg294_Asp398delinsHisLeuSerProArgAla	In-frame insertion or deletion, frameshift insertion or deletion	TRD, C-term	Mutation associated with disease	Rett syndrome-classical	Unknown	1528
c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Rett syndrome-Not certain	Unknown	1541
c.378-17delT	intronic variation	Intronic variation	Intronic	Polymorphism not causing disease	Not Rett synd.-Unaffected family member	Unknown	1597
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-sporadic mental retardation	Unknown	2649
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-sporadic mental retardation	Unknown	2650
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-sporadic mental retardation	Unknown	2651
c.527C>G	p.Pro176Arg	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-sporadic mental retardation	Unknown	2652
c.819G>T	p.Gly273Gly	silent	TRD	Silent polymorphism	Not Rett synd.-sporadic mental retardation	Unknown	2653
c.897C>T	p.Thr299Thr	silent	TRD	Silent polymorphism	Not Rett synd.-sporadic mental retardation	Unknown	2654
c.1035A>G	p.Lys345Lys	silent	C-term	Silent polymorphism	Not Rett synd.-sporadic mental retardation	Unknown	2655
c.1189G>A	p.Glu397Lys	missense	C-term	Polymorphism not causing disease	Not Rett synd.-sporadic mental retardation	Unknown	2656
c.1206C>T	p.Pro402Pro	silent	C-term	Silent polymorphism	Not Rett synd.-sporadic mental retardation	Unknown	2657
c.1430G>C	p.Ser477Thr	missense	C-term	Polymorphism not causing disease	Not Rett synd.-sporadic mental retardation	Unknown	2658
c.27-55G>A	intronic variation	intronic variation	intronic	Unknown	Not Rett synd.-Autism	Unknown	2661
c.377+18C>G	intronic variation	intronic variation	intronic	Unknown	Not Rett synd.-Autism	Unknown	2662
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2663
c.393C>G	p.Ala131Ala	silent	MBD	Silent polymorphism	Not Rett synd.-Autism	Unknown	2664
c.1197C>T	p.Pro399Pro	silent	C-term	Silent polymorphism	Not Rett synd.-Autism	Unknown	2668
c.1197C>T	p.Pro399Pro	silent	C-term	Silent polymorphism	Not Rett synd.-Autism	Unknown	2669
c.1233C>T	p.Ser411Ser	silent	C-term	Silent polymorphism	Not Rett synd.-Autism	Unknown	2670
c.1335G>A	p.Thr445Thr	silent	C-term	Silent polymorphism	Not Rett synd.-Autism	Unknown	2672
c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2674
c.*93G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2675
c.*544G>A	3'UTR variation	3'UTR variation	3'UTR	Unknown	Not Rett synd.-Autism	Unknown	2678
c.*767G>T	3'UTR variation	3'UTR variation	3'UTR	Unknown	Not Rett synd.-Autism	Unknown	2680
c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2682
c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2683
c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2684
c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2685
c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2686
c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2687
c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2688
c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2689
c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2690
c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2691
c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2692
c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2693
c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2694
c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2695
c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2696
c.*1737G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2698
c.*1737G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2699
c.*1737G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2700
c.*1737G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2701
c.*1737G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2702
c.*1737G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2703
c.*1737G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2704
c.*1737G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2705
c.*2657G>A	3'UTR variation	3'UTR variation	3'UTR	Unknown	Not Rett synd.-Autism	Unknown	2707
c.*3477G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2710
c.*3477G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2711
c.*3658C>T	3'UTR variation	3'UTR variation	3'UTR	Unknown	Not Rett synd.-Autism	Unknown	2712
c.*3878G>C	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2713
c.*4576A>C	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2714
c.*5486_*5487dupAT	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2715
c.*7748C>T	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2716
c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2717
c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2718
c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2719
c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2720
c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2721
c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2722
c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2723
c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2724
c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2725
c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2726
c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2727
c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2728
c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2729
c.*8503delC	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2730
c.*8503delC	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2731
c.*8503delC	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2732
c.*8503delC	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2733
c.*8503delC	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Autism	Unknown	2734
c.*393G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Non-Rett syndrome control	Unknown	2735
c.*489G>C	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Non-Rett syndrome control	Unknown	2736
c.*529G>T	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Non-Rett syndrome control	Unknown	2737
c.*806G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Non-Rett syndrome control	Unknown	2738
c.*831G>C	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Non-Rett syndrome control	Unknown	2739
c.*875dupA	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Non-Rett syndrome control	Unknown	2740
c.*1237T>C	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Non-Rett syndrome control	Unknown	2741
c.*3662A>G	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Non-Rett syndrome control	Unknown	2742
c.*4086_*4087delGT	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Non-Rett syndrome control	Unknown	2743
c.*5839C>T	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-Non-Rett syndrome control	Unknown	2744
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3918
c.1189G>A	p.Glu397Lys	missense	C-term	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3919
c.834C>T	p.Ala278Ala	silent	TRD	Silent polymorphism	Not Rett synd.-non-Rett syndrome control	Unknown	3920
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3921
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3922
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3923
c.527C>G	p.Pro176Arg	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3943
c.527C>G	p.Pro176Arg	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3944
c.1133C>T	p.Ala378Val	missense	C-term	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3947
c.1133C>T	p.Ala378Val	missense	C-term	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3948
c.1436C>T	p.Thr479Met	missense	C-term	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3951
c.602C>T	p.Ala201Val	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3954
c.602C>T	p.Ala201Val	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3955
c.695G>C	p.Gly232Ala	missense	TRD	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3959
c.695G>C	p.Gly232Ala	missense	TRD	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3960
c.695G>C	p.Gly232Ala	missense	TRD	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3961
c.695G>C	p.Gly232Ala	missense	TRD	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3962
c.695G>C	p.Gly232Ala	missense	TRD	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3963
c.695G>C	p.Gly232Ala	missense	TRD	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3964
c.695G>C	p.Gly232Ala	missense	TRD	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3965
c.695G>C	p.Gly232Ala	missense	TRD	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3966
c.695G>C	p.Gly232Ala	missense	TRD	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3967
c.695G>C	p.Gly232Ala	missense	TRD	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3968
c.695G>C	p.Gly232Ala	missense	TRD	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3969
c.695G>C	p.Gly232Ala	missense	TRD	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3970
c.695G>C	p.Gly232Ala	missense	TRD	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3971
c.695G>C	p.Gly232Ala	missense	TRD	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3972
c.695G>C	p.Gly232Ala	missense	TRD	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3973
c.695G>C	p.Gly232Ala	missense	TRD	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3974
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3990
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3991
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3992
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3993
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	3994
c.393C>G	p.Ala131Ala	silent	MBD	Silent polymorphism	Not Rett synd.-non-Rett syndrome control	Unknown	3995
c.834C>T	p.Ala278Ala	silent	TRD	Silent polymorphism	Not Rett synd.-non-Rett syndrome control	Unknown	3996
c.948C>G	p.Val316Val	silent	C-term	Silent polymorphism	Not Rett synd.-non-Rett syndrome control	Unknown	3997
c.1335G>A	p.Thr445Thr	silent	C-term	Silent polymorphism	Not Rett synd.-non-Rett syndrome control	Unknown	3998
c.1335G>A	p.Thr445Thr	silent	C-term	Silent polymorphism	Not Rett synd.-non-Rett syndrome control	Unknown	3999
c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4000
c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4001
c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4002
c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4003
c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4004
c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4005
c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4006
c.*878C>G	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4007
c.*1737G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4008
c.*1737G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4009
c.*1737G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4010
c.*1737G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4011
c.*1737G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4012
c.*3477G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4013
c.*3477G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4014
c.*3477G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4015
c.*3878G>C	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4016
c.*4576A>C	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4017
c.*4576A>C	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4018
c.*5486_*5487dupAT	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4019
c.*7748C>T	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4020
c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4021
c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4022
c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4023
c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4024
c.*7856A>C	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4025
c.*8503delC	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4026
c.*8503delC	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4027
c.*8503delC	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4028
c.*8503delC	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4029
c.*8503delC	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4030
c.*8503dupC	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4031
c.*8503dupC	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-non-Rett syndrome control	Unknown	4032
c.582C>T	p.Ser194Ser	silent	inter-domain region	Silent polymorphism	Not Rett synd.-autism	Unknown	4200
c.*9G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-autism	Unknown	4201
c.*55C>G	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-autism	Unknown	4215
c.1233C>T	p.Ser411Ser	silent	C-term	Silent polymorphism	Not Rett synd.-autism spectrum disorder	Unknown	4606
c.1233C>T	p.Ser411Ser	silent	C-term	Silent polymorphism	Not Rett synd.-autism spectrum disorder	Unknown	4607
c.1233C>T	p.Ser411Ser	silent	C-term	Silent polymorphism	Not Rett synd.-normal control	Unknown	4608
c.1206C>T	p.Pro402Pro	silent	C-term	Silent polymorphism	Not Rett synd.-autism spectrum disorder	Unknown	4609
c.1189G>A	p.Glu397Lys	missense	C-term	Polymorphism not causing disease	Not Rett synd.-autism spectrum disorder	Unknown	4610
c.1189G>A	p.Glu397Lys	missense	C-term	Polymorphism not causing disease	Not Rett synd.-schizophrenia	Unknown	4611
c.1189G>A	p.Glu397Lys	missense	C-term	Polymorphism not causing disease	Not Rett synd.-schizophrenia	Unknown	4612
c.1189G>A	p.Glu397Lys	missense	C-term	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	4613
c.996C>T	p.Ser332Ser	silent	C-term	Silent polymorphism	Not Rett synd.-autism spectrum disorder	Unknown	4614
c.942C>T	p.Ile314Ile	silent	C-term	Silent polymorphism	Not Rett synd.-schizophrenia	Unknown	4617
c.843C>T	p.Ala281Ala	silent	TRD	Silent polymorphism	Not Rett synd.-schizophrenia	Unknown	4619
c.587C>G	p.Thr196Ser	missense	inter-domain region	Polymorphism not causing disease	Not Rett synd.-schizophrenia	Unknown	4621
c.426C>T	p.Phe142Phe	silent	MBD	Silent polymorphism	Not Rett synd.-autism spectrum disorder	Unknown	4622
c.375C>A	p.Ile125Ile	silent	MBD	Silent polymorphism	Not Rett synd.-autism spectrum disorder	Unknown	4623
c.375C>A	p.Ile125Ile	silent	MBD	Silent polymorphism	Not Rett synd.-schizophrenia	Unknown	4624
c.375C>A	p.Ile125Ile	silent	MBD	Silent polymorphism	Not Rett synd.-normal control	Unknown	4625
c.1035A>G	p.Lys345Lys	silent	C-term	Silent polymorphism	Not Rett synd.-normal control	Unknown	4626
c.582C>T	p.Ser194Ser	silent	inter-domain region	Silent polymorphism	Not Rett synd.-normal control	Unknown	4627
c.582C>T	p.Ser194Ser	silent	inter-domain region	Silent polymorphism	Not Rett synd.-normal control	Unknown	4628
c.897C>T	p.Thr299Thr	silent	TRD	Silent polymorphism	Not Rett synd.-normal control	Unknown	4629
c.897C>T	p.Thr299Thr	silent	TRD	Silent polymorphism	Not Rett synd.-normal control	Unknown	4630
c.897C>T	p.Thr299Thr	silent	TRD	Silent polymorphism	Not Rett synd.-normal control	Unknown	4631
c.627G>A	p.Val209Val	silent	TRD	Silent polymorphism	Not Rett synd.-normal control	Unknown	4632
c.840C>T	p.Ala280Ala	silent	TRD	Silent polymorphism	Not Rett synd.-normal control	Unknown	4633
c.840C>T	p.Ala280Ala	silent	TRD	Silent polymorphism	Not Rett synd.-normal control	Unknown	4634
c.1335G>A	p.Thr445Thr	silent	C-term	Silent polymorphism	Not Rett synd.-normal control	Unknown	4635
c.377+22C>G	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5142
c.377+28A>G	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5143
c.377+30G>A	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5144
c.378-70C>G	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5145
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5155
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5156
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5157
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5158
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5159
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5160
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5161
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5162
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5163
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5164
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5165
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5166
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5167
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5168
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5169
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5170
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5171
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5172
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5173
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5174
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5175
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5176
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5177
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5178
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5179
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5180
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5181
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5182
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5183
c.378-17delT	intronic variation	intronic variation	intronic	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5184
c.582C>T	p.Ser194Ser	silent	inter-domain region	Silent polymorphism	Not Rett synd.-normal control	Unknown	5187
c.582C>T	p.Ser194Ser	silent	inter-domain region	Silent polymorphism	Not Rett synd.-normal control	Unknown	5188
c.633G>C	p.Arg211Ser	missense	TRD	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5189
c.683C>G	p.Thr228Ser	missense	TRD	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5190
c.750C>T	p.Arg250Arg	silent	TRD	Silent polymorphism	Not Rett synd.-normal control	Unknown	5191
c.819G>T	p.Gly273Gly	silent	TRD	Silent polymorphism	Not Rett synd.-normal control	Unknown	5192
c.819G>T	p.Gly273Gly	silent	TRD	Silent polymorphism	Not Rett synd.-normal control	Unknown	5193
c.819G>T	p.Gly273Gly	silent	TRD	Silent polymorphism	Not Rett synd.-normal control	Unknown	5194
c.819G>T	p.Gly273Gly	silent	TRD	Silent polymorphism	Not Rett synd.-normal control	Unknown	5195
c.843C>T	p.Ala281Ala	silent	TRD	Silent polymorphism	Not Rett synd.-normal control	Unknown	5196
c.897C>T	p.Thr299Thr	silent	TRD	Silent polymorphism	Not Rett synd.-normal control	Unknown	5198
c.897C>T	p.Thr299Thr	silent	TRD	Silent polymorphism	Not Rett synd.-normal control	Unknown	5199
c.897C>T	p.Thr299Thr	silent	TRD	Silent polymorphism	Not Rett synd.-normal control	Unknown	5200
c.897C>T	p.Thr299Thr	silent	TRD	Silent polymorphism	Not Rett synd.-normal control	Unknown	5201
c.897C>T	p.Thr299Thr	silent	TRD	Silent polymorphism	Not Rett synd.-normal control	Unknown	5202
c.897C>T	p.Thr299Thr	silent	TRD	Silent polymorphism	Not Rett synd.-normal control	Unknown	5203
c.897C>T	p.Thr299Thr	silent	TRD	Silent polymorphism	Not Rett synd.-normal control	Unknown	5204
c.897C>T	p.Thr299Thr	silent	TRD	Silent polymorphism	Not Rett synd.-normal control	Unknown	5205
c.984C>A	p.Leu328Leu	silent	C-term	Silent polymorphism	Not Rett synd.-normal control	Unknown	5206
c.984C>T	p.Leu328Leu	silent	C-term	Silent polymorphism	Not Rett synd.-normal control	Unknown	5207
c.984C>T	p.Leu328Leu	silent	C-term	Silent polymorphism	Not Rett synd.-normal control	Unknown	5208
c.1035A>G	p.Lys345Lys	silent	C-term	Silent polymorphism	Not Rett synd.-normal control	Unknown	5209
c.1035A>G	p.Lys345Lys	silent	C-term	Silent polymorphism	Not Rett synd.-normal control	Unknown	5210
c.1189G>A	p.Glu397Lys	missense	C-term	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5213
c.1196C>T	p.Pro399Leu	missense	C-term	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5214
c.1197C>T	p.Pro399Pro	silent	C-term	Silent polymorphism	Not Rett synd.-normal control	Unknown	5215
c.1233C>T	p.Ser411Ser	silent	C-term	Silent polymorphism	Not Rett synd.-normal control	Unknown	5218
c.1234G>A	p.Val412Ile	missense	C-term	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5219
c.1234G>A	p.Val412Ile	missense	C-term	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5220
c.1266C>T	p.Gly422Gly	silent	C-term	Silent polymorphism	Not Rett synd.-normal control	Unknown	5221
c.1335G>A	p.Thr445Thr	silent	C-term	Silent polymorphism	Not Rett synd.-normal control	Unknown	5222
c.1335G>A	p.Thr445Thr	silent	C-term	Silent polymorphism	Not Rett synd.-normal control	Unknown	5223
c.1339G>A	p.Ala447Thr	missense	C-term	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5224
c.*93G>A	3'UTR variation	3'UTR variation	3'UTR	Polymorphism not causing disease	Not Rett synd.-normal control	Unknown	5227

Displaying 4806 entries

To limit/filter the entries shown in this table (or to change the fields displayed), please go to the proband search page.