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 Unknown 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
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup 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
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 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
MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup 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
MECP2_e1:c.62+2_63+3delTG Intronic variation 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 Unknown 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
MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Not Rett synd.-mental retardation Male 6840
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
MECP2_e1: c.62+2_62+3delTG intronic variation 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
MECP2_e1: c.5C>T MeCP2_e1: p.A2V 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
MECP2_e1: c.1A>T MeCP2_e1: p.M1? 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
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? 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
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup In-frame insertion or deletion N-term Polymorphism not causing disease Not Known Female 2004
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup 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
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? 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
MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup In-frame insertion or deletion N-term Polymorphism not causing disease Rett syndrome-Atypical Female 2162
MECP2_e1: c.21_23dup3 MeCP2_e1: p.A8dup 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
MECP2_e1: c.30delCinsGA MeCP2_e1: p.S10fs 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
MECP2_e1: c.-46_-45delGC 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd.-non-specific mental retardation Female 2551
MECP2_e1: c.-27_-26delAG 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd.-non-specific mental retardation Female 2552
MECP2_e1: c.-27_-26delinsTT 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd.-non-specific mental retardation Female 2553
MECP2_e1: c.15_23dup9 MeCP2_e1: p.A6_A8dup in-frame insertion or deletion N-term Unknown Not Rett synd.-non-specific mental retardation Female 2554
MECP2_e1: c.15_23dup9 MeCP2_e1: p.A6_A8dup in-frame insertion or deletion N-term Unknown Not Rett synd.-non-specific mental retardation Female 2555
MECP2_e1: c.18_23del6 MeCP2_e1: p.A7_A8del in-frame insertion or deletion N-term Unknown Not Rett synd.-non-specific mental retardation Female 2556
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd.-non-specific mental retardation Female 2557
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd.-non-specific mental retardation Female 2558
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd.-non-specific mental retardation Female 2559
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd.-non-specific mental retardation Female 2560
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd.-non-specific mental retardation Female 2561
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd.-non-specific mental retardation Female 2562
MECP2_e1: c.49G>A MeCP2_e1: p.E17K 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
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Female 3915
MECP2_e1: c.48_55dup MeCP2_e1: p.G19Afs*28 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2756
MECP2_e1: c.62+2_62+3delTG intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 2757
MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup in-frame insertion or deletion N-term Polymorphism not causing disease Rett syndrome-atypical Female 2758
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? 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
MECP2_e1: c.59_60delGA MeCP2_e1: p.R20Tfs*40 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
MECP2_e1: c.62+2_62+3delTG intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 2800
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-atypical Female 2801
MECP2_e1: c.23_27dupCGCCG MeCP2_e1: p.S10Rfs*37 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2802
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 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
MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup 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
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-atypical Female 2916
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 2928
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? 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
MECP2_e1: c.42_47dupAGGAGG MeCP2_e1: p.G15_G16dup 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
MECP2_e1: c.62+1G>A intronic variation 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
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? 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
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup 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
MECP2_e1: c.5C>T MeCP2_e1: p.A2V missense N-term Unknown Rett syndrome-not certain Female 3867
MECP2_e1: c.1A>G MeCP2_e1: p.M1? 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
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup 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
MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup 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
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 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 Unknown Not Known Female 4458
c.499C>T p.Arg167Trp missense inter-domain region Unknown Not Rett synd.-unaffected family member Female 4459
c.499C>T p.Arg167Trp missense inter-domain region Unknown 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
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup 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.4