MECP2 Proband List



Nucleotide change Genomic name Amino acid change Type of sequence change Domain change Pathogenicity Phenotype Gender Proband ID View record
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Not Known Unknown 4453 View details
c.1154_1185del32 g.153296094_153296125del32 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Male variant Male 38 View details
c.*487G>C g.153295331C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 48 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Male variant Male 61 View details
c.752C>T g.153296527G>A p.Pro251Leu Missense TRD Polymorphism not causing disease Not Rett synd. Male 149 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 152 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 220 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 221 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 222 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 223 View details
c.590C>T g.153296689G>A p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Male 373 View details
c.1430G>C g.153295849C>G p.Ser477Thr Missense C-term Polymorphism not causing disease Not Rett synd. Male 394 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Male 399 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Rett synd. Male 432 View details
c.*8C>T g.153295810G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 445 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Rett synd. Male 849 View details
c.1216C>T g.153296063G>A p.Gln406* Nonsense C-term Mutation associated with disease Not Rett synd. Male 838 View details
c.1161_1400del240 g.153295879_153296118del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Not Rett synd. Male 836 View details
c.1161_1400del240 g.153295879_153296118del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Not Rett synd. Male 834 View details
c.1161_1400del240 g.153295879_153296118del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Not Rett synd. Male 833 View details
c.410A>G g.153296869T>C p.Glu137Gly Missense MBD Mutation associated with disease Not Rett synd. Male 1012 View details
c.499C>T g.153296780G>A p.Arg167Trp Missense Inter-domain region Unknown Not Rett synd. Male 1013 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1014 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1015 View details
c.1196C>T g.153296083G>A p.Pro399Leu Missense C-term Polymorphism not causing disease Not Rett synd. Male 1016 View details
c.1358G>A g.153295921C>T p.Arg453Gln Missense C-term Unknown Not Rett synd. Male 1017 View details
c.850A>G g.153296429T>C p.Lys284Glu Missense TRD Unknown Not Rett synd. Male 1018 View details
c.849C>G g.153296430G>C p.Ala283Ala Silent TRD Silent polymorphism Not Rett synd. Male 1019 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Rett synd. Male 1020 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Not Rett synd. Male 1021 View details
c.1160C>T g.153296119G>A p.Pro387Leu Missense C-term Unknown Not Rett synd. Male 1022 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1023 View details
c.167_168delCC g.153297867_153297868delGG p.Pro56fs Frameshift insertion or deletion N-term Mutation associated with disease Not Known Male 1024 View details
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 1150 View details
c.167_168delCC g.153297867_153297868delGG p.Pro56fs Frameshift insertion or deletion N-term Mutation associated with disease Not Rett synd. Male 1155 View details
c.[=/398G>A] p.[=/Arg133His] Missense MBD Unknown Rett syndrome-Male variant Male 1182 View details
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 1529 View details
c.753dupC g.153296526dupG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Not Rett synd. Male 1199 View details
c.686C>T g.153296593G>A p.Ser229Leu Missense TRD Polymorphism not causing disease Not Rett synd. Male 1222 View details
c.488_489delGG g.153296790_153296791delCC p.Gly163fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Not Rett synd. Male 1239 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1266 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1268 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1269 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1270 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1272 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Male 1387 View details
c.1075T>C g.153296204A>G p.Ser359Pro Missense C-term Polymorphism not causing disease Rett syndrome-Male variant Male 1388 View details
c.1075T>C g.153296204A>G p.Ser359Pro Missense C-term Polymorphism not causing disease Not Rett synd. Male 1393 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Male 1394 View details
c.[423C>G];[=] p.[Tyr141*];[=] Nonsense MBD Mutation associated with disease Rett syndrome-Male variant Male 1434 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Male variant Male 1435 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Rett synd. Male 1480 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd. Male 1496 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Male 1501 View details
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 1531 View details
c.1030C>T g.153296249G>A p.Arg344Trp Missense C-term Unknown Rett syndrome-Not certain Male 1532 View details
c.590C>T g.153296689G>A p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Male 1534 View details
c.1196C>T g.153296083G>A p.Pro399Leu Missense C-term Polymorphism not causing disease Not Rett synd. Male 1537 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 1539 View details
c.1216C>T g.153296063G>A p.Gln406* Nonsense C-term Mutation associated with disease Not Rett synd. Male 1543 View details
c.608C>T g.153296671G>A p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Male 1547 View details
c.1330G>A g.153295949C>T p.Ala444Thr Missense C-term Polymorphism not causing disease Not Rett synd. Male 1548 View details
c.1330G>A g.153295949C>T p.Ala444Thr Missense C-term Polymorphism not causing disease Not Rett synd. Male 1549 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1562 View details
c.377+95G>A g.153297563C>T intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1563 View details
c.542C>T g.153296737G>A p.Ala181Val Missense Inter-domain region Unknown Not Rett synd. Male 1564 View details
c.[984C>T; 1161_1163del] g.[153296295G>A;153296116_153296118del] p.[Leu328Leu; Pro391del] Silent, in-frame insertion or deletion C-term Polymorphism not causing disease Not Rett synd. Male 1569 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 1570 View details
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Rett synd. Male 1574 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1575 View details
c.1197C>T g.153296082G>A p.Pro399Pro Silent C-term Silent polymorphism Not Rett synd. Male 1577 View details
c.1205C>T g.153296074G>A p.Pro402Leu Missense C-term Polymorphism not causing disease Not Rett synd. Male 1578 View details
c.1205C>T g.153296074G>A p.Pro402Leu Missense C-term Polymorphism not causing disease Not Rett synd. Male 1580 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1583 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Rett synd. Male 1588 View details
c.527C>G g.153296752G>C p.Pro176Arg Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Male 1613 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Male 1640 View details
c.815C>T g.153296464G>A p.Pro272Leu Missense TRD Polymorphism not causing disease Not Rett synd. Male 1653 View details
c.674C>T g.153296605G>A p.Pro225Leu Missense TRD Unknown Rett syndrome-Male variant Male 1659 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Male variant Male 1673 View details
c.210C>T g.153297825G>A p.Ser70Ser Silent N-term Silent polymorphism Not Known Male 1737 View details
c.210C>T g.153297825G>A p.Ser70Ser Silent N-term Silent polymorphism Not Known Male 1771 View details
c.168C>T g.153297867G>A p.Pro56Pro Silent N-term Silent polymorphism Not Known Male 1794 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Not Known Male 1808 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1817 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1818 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 1819 View details
c.608C>T g.153296671G>A p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Male 1851 View details
c.749G>A g.153296530C>T p.Arg250His Missense TRD Polymorphism not causing disease Not Rett synd. Male 1853 View details
c.426C>T g.153296853G>A p.Phe142Phe Silent MBD Silent polymorphism Not Rett synd. Male 1885 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Rett synd. Male 1891 View details
c.881G>C g.153296398C>G p.Arg294Pro Missense TRD Polymorphism not causing disease Not Rett synd. Male 1904 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 1908 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 1914 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1966 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Male 1971 View details
c.602C>T g.153296677G>A p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Male 1973 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Male 1974 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1975 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1976 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1977 View details
c.*93G>A g.153295725C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 1978 View details
c.[378-61C>G; *93G>A] g.[153296962G>C;153295725C>T] intronic variation and 3'UTR variation Intronic variation, 3'UTR variation Intronic, 3'UTR Unknown Not Rett synd. Male 1979 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd. Male 1981 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Male 1982 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Male 1983 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Male 1984 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Male 1987 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Male 1988 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Male 1992 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Male 1993 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Male 1997 View details
c.1061G>T g.153296218C>A p.Arg354Leu Missense C-term Polymorphism not causing disease Not Rett synd. Male 2003 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup In-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Male 2006 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Male 2009 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Known Male 2030 View details
c.752_753dupCC g.153296526_153296527dupGG p.Gly252fs frameshift insertion or deletion TRD Mutation associated with disease Not Known Male 2047 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Male 2060 View details
c.1239C>T g.153296040G>A p.Cys413Cys Silent C-term Silent polymorphism Not Rett synd. Male 2062 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del In-frame insertion or deletion C-term Polymorphism not causing disease Not Rett synd. Male 2068 View details
c.690A>C g.153296589T>G p.Pro230Pro Silent TRD Silent polymorphism Not Rett synd. Male 2129 View details
c.720C>T g.153296559G>A p.Thr240Thr Silent TRD Silent polymorphism Not Rett synd. Male 2133 View details
c.633G>C g.153296646C>G p.Arg211Ser Missense TRD Polymorphism not causing disease Not Rett synd. Male 2135 View details
c.215C>T g.153297820G>A p.Pro72Leu Missense N-term Unknown Not Known Male 2139 View details
c.168C>T g.153297867G>A p.Pro56Pro Silent N-term Silent polymorphism Not Known Male 2140 View details
c.1404G>A g.153295875C>T p.Arg468Arg Silent C-term Silent polymorphism Not Known Male 2142 View details
c.1372C>T g.153295907G>A p.Arg458Cys Missense C-term Polymorphism not causing disease Not Rett synd. Male 2144 View details
c.1234G>A g.153296045C>T p.Val412Ile Missense C-term Polymorphism not causing disease Not Known Male 2147 View details
c.1215C>T g.153296064G>A p.Pro405Pro Silent C-term Silent polymorphism Not Rett synd. Male 2151 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Male 2152 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 2153 View details
c.1081C>G g.153296198G>C p.Pro361Ala Missense C-term Unknown Not Known Male 2156 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Not Rett synd. Male 2159 View details
c.474G>A g.153296805C>T p.Thr158Thr Silent MBD Silent polymorphism Not Rett synd. Male 2161 View details
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Rett synd. Male 2165 View details
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Rett synd. Male 2166 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Male 2220 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Rett synd. Male 2344 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 2370 View details
c.*5348T>C g.153290470A>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2373 View details
c.591G>A g.153296688C>T p.Thr197Thr Silent Inter-domain region Silent polymorphism Not Rett synd. Male 2375 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Not Rett synd. Male 2378 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 2380 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 2381 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 2382 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 2383 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 2385 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 2386 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 2387 View details
c.1202G>A g.153296077C>T p.Ser401Asn Missense C-term Polymorphism not causing disease Not Rett synd. Male 2391 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Rett synd. Male 2492 View details
c.393C>G g.153296886G>C p.Ala131Ala Silent MBD Silent polymorphism Not Rett synd. Male 2496 View details
c.666C>G g.153296613G>C p.Val222Val Silent TRD Silent polymorphism Not Rett synd. Male 2520 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 2525 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 2526 View details
c.964C>T g.153296315G>A p.Pro322Ser Missense C-term Unknown Not Rett synd. Male 2529 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-male variant Male 2548 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-male variant Male 2549 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-male variant Male 2550 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 2665 View details
c.617G>C g.153296662C>G p.Gly206Ala missense inter-domain region Unknown Not Rett synd. Male 2666 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Male 2667 View details
c.1330G>A g.153295949C>T p.Ala444Thr missense C-term Polymorphism not causing disease Not Rett synd. Male 2671 View details
c.245A>G g.153297790T>C p.Lys82Arg missense MBD Polymorphism not causing disease Not Rett synd. Male 2673 View details
c.*204G>A g.153295614C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2676 View details
c.*371G>C g.153295447C>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2677 View details
c.*554G>A g.153295264C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2679 View details
c.*861T>G g.153294957A>C 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2681 View details
c.*1368C>A g.153294450G>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2697 View details
c.*2556T>A g.153293262A>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2706 View details
c.*2956G>A g.153292862C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2709 View details
c.377+24C>A g.153297634G>T intronic variation intronic variation intronic Unknown Not Rett synd. Male 2745 View details
c.514C>T g.153296765G>A p.Pro172Ser missense inter-domain region Unknown Not Rett synd. Male 2746 View details
c.590C>T g.153296689G>A p.Thr197Met missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 2747 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 2748 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 2749 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 2750 View details
c.609G>A g.153296670C>T p.Thr203Thr silent inter-domain region Silent polymorphism Not Rett synd. Male 2751 View details
c.683C>G g.153296596G>C p.Thr228Ser missense TRD Polymorphism not causing disease Not Rett synd. Male 2752 View details
c.906C>G g.153296373G>C p.Pro302Pro silent TRD Silent polymorphism Not Rett synd. Male 2753 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-male variant Male 2755 View details
c.1214C>T g.153296065G>A p.Pro405Leu missense C-term Unknown Not Rett synd. Male 2763 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 2764 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 2765 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 2766 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 2767 View details
c.815C>T g.153296464G>A p.Pro272Leu missense TRD Polymorphism not causing disease Not Rett synd. Male 2768 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd. Male 2793 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd. Male 2794 View details
c.469T>A g.153296810A>T p.Phe157Ile missense MBD Unknown Not Rett synd. Male 2795 View details
c.1250A>T g.153296029T>A p.Lys417Met missense C-term Unknown Not Rett synd. Male 2796 View details
c.1415_1416delAG g.153295863_153295864delCT p.Glu472fs frameshift insertion ord deletion C-term Mutation associated with disease Not Rett synd. Male 3019 View details
c.225G>A g.153297810C>T p.Pro75Pro silent N-term Silent polymorphism Not Rett synd. Male 3020 View details
c.[528C>G; 897C>T] g.[153296751G>C;153296382G>A] p.[Pro176Pro; Thr299Thr] silent inter-domain region Silent polymorphism Not Rett synd. Male 3021 View details
c.573C>T g.153296706G>A p.Pro191Pro silent inter-domain region Silent polymorphism Not Rett synd. Male 3022 View details
c.582C>T g.153296697G>A p.Ser194Ser silent inter-domain region Silent polymorphism Not Rett synd. Male 3023 View details
c.582C>T g.153296697G>A p.Ser194Ser silent inter-domain region Silent polymorphism Not Rett synd. Male 3024 View details
c.686C>T g.153296593G>A p.Ser229Leu missense TRD Polymorphism not causing disease Not Rett synd. Male 3025 View details
c.834C>T g.153296445G>A p.Ala278Ala silent TRD Silent polymorphism Not Rett synd. Male 3026 View details
c.942C>T g.153296337G>A p.Ile314Ile silent C-term Silent polymorphism Not Rett synd. Male 3027 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Male 3028 View details
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 3029 View details
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 3030 View details
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 3031 View details
c.683C>G g.153296596G>C p.Thr228Ser missense TRD Polymorphism not causing disease Not Rett synd. Male 3032 View details
c.1180G>A g.153296099C>T p.Glu394Lys missense C-term Polymorphism not causing disease Not Rett synd. Male 3033 View details
c.1438C>T g.153295841G>A p.Pro480Ser missense C-term Polymorphism not causing disease Not Rett synd. Male 3034 View details
c.[397C>T; 602C>T] g.[153296882G>A;153296677G>A] p.[Arg133Cys; Ala201Val] missense MBD, inter-domain region Mutation associated with disease Rett syndrome-male variant Male 3794 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 3808 View details
c.1072G>A g.153296207C>T p.Ala358Thr missense C-term Polymorphism not causing disease Not Rett synd. Male 3810 View details
c.378-3_383del9 g.153296896_153296904del9 p.Asn126Lysfs*11 frameshift insertion or deletion MBD Mutation associated with disease Not Rett synd. Male 3827 View details
c.1214C>T g.153296065G>A p.Pro405Leu missense C-term Unknown Not Rett synd. Male 3851 View details
c.454C>G g.153296825G>C p.Pro152Ala missense MBD Mutation associated with disease Not Rett synd. Male 3857 View details
c.*8500C>G g.153287318G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 3862 View details
c.119_120delAG g.153297915_153297916delCT p.Glu40fs frameshift insertion or deletion N-term Mutation associated with disease Not Rett synd. Male 3869 View details
c.1373G>A g.153295906C>T p.Arg458His missense c-term Polymorphism not causing disease Not Rett synd. Male 3876 View details
c.925C>T g.153296354G>A p.Arg309Trp missense TRD Unknown Not Rett synd. Male 3909 View details
c.984C>A g.153296295G>T p.Leu328Leu silent C-term Silent polymorphism Not Known Male 3911 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 3924 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 3925 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 3929 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 3931 View details
c.590C>T g.153296689G>A p.Thr197Met missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 3939 View details
c.527C>G g.153296752G>C p.Pro176Arg missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 3942 View details
c.1133C>T g.153296146G>A p.Ala378Val missense C-term Polymorphism not causing disease Not Rett synd. Male 3946 View details
c.1436C>T g.153295843G>A p.Thr479Met missense C-term Polymorphism not causing disease Not Rett synd. Male 3950 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 3953 View details
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 3975 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 3976 View details
c.815C>T g.153296464G>A p.Pro272Leu missense TRD Polymorphism not causing disease Not Rett synd. Male 3977 View details
c.*328G>A g.153295490C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 3978 View details
c.*328G>A g.153295490C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 3979 View details
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Not Rett synd. Male 3984 View details
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Not Rett synd. Male 3985 View details
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Not Rett synd. Male 3986 View details
c.[=/808delC] p.[=/Arg270fs] frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd. Male 3988 View details
c.365T>C g.153297670A>G p.Val122Ala missense MBD Unknown Not Rett synd. Male 4036 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4043 View details
c.36G>C g.153297999C>G p.Lys12Asn missense N-term Polymorphism not causing disease Not Rett synd. Male 4046 View details
c.1451G>C g.153295828C>G p.Arg484Thr missense C-term Polymorphism not causing disease Not Rett synd. Male 4047 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4048 View details
c.1141C>G g.153296138G>C p.Pro381Ala missense C-term Polymorphism not causing disease Not Rett synd. Male 4050 View details
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 4051 View details
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 4053 View details
c.1180G>A g.153296099C>T p.Glu394Lys missense C-term Polymorphism not causing disease Not Rett synd. Male 4058 View details
c.1438C>T g.153295841G>A p.Pro480Ser missense C-term Polymorphism not causing disease Not Rett synd. Male 4060 View details
c.755dupG g.153296524dupC p.Arg253fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-male variant Male 4104 View details
c.515C>T g.153296764G>A p.Pro172Leu missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 4180 View details
c.[1363G>T];[=] p.[Glu455*];[=] nonsense C-term Mutation associated with disease Rett syndrome-male variant Male 4198 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4203 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4204 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4205 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4206 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4207 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4208 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4209 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4210 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4211 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4212 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4213 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4214 View details
c.*55C>G g.153295763G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4217 View details
c.[=/316C>T] p.[=/Arg106Trp] missense MBD Mutation associated with disease Rett syndrome-male variant Male 4218 View details
c.1142_1227del86 g.153296052_153296137del86 p.Pro381fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-male variant Male 4219 View details
c.1142_1227del86 g.153296052_153296137del86 p.Pro381fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-male variant Male 4220 View details
c.608C>T g.153296671G>A p.Thr203Met missense inter-domain region Polymorphism not causing disease Rett syndrome-male variant Male 4222 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-male variant Male 4225 View details
c.419C>T g.153296860G>A p.Ala140Val missense MBD Unknown Not Rett synd. Male 4398 View details
c.419C>T g.153296860G>A p.Ala140Val missense MBD Unknown Not Rett synd. Male 4399 View details
c.419C>T g.153296860G>A p.Ala140Val missense MBD Unknown Not Rett synd. Male 4400 View details
c.419C>T g.153296860G>A p.Ala140Val missense MBD Unknown Not Rett synd. Male 4401 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Known Male 4417 View details
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Not Known Male 4446 View details
c.686C>T g.153296593G>A p.Ser229Leu missense TRD Polymorphism not causing disease Not Known Male 4477 View details
c.1288C>T g.153295991G>A p.Pro430Ser missense C-term Polymorphism not causing disease Rett syndrome-male variant Male 4588 View details
c.1288C>T g.153295991G>A p.Pro430Ser missense C-term Polymorphism not causing disease Not Rett synd. Male 4590 View details
c.992A>G g.153296287T>C p.Lys331Arg missense C-term Polymorphism not causing disease Not Rett synd. Male 4594 View details
c.1339G>A g.153295940C>T p.Ala447Thr missense C-term Polymorphism not causing disease Not Rett synd. Male 4605 View details
c.985G>A g.153296294C>T p.Gly329Ser missense C-term Polymorphism not causing disease Not Rett synd. Male 4615 View details
c.[=/360T>G] p.[=/Tyr120*] nonsense MBD Mutation associated with disease Rett syndrome-atypical Male 4671 View details
c.1162_1179del18 g.153296100_153296117del18 p.Pro388_Pro393del in-frame insertion or deletion C-term Polymorphism not causing disease Not Rett synd. Male 4714 View details
c.925C>T g.153296354G>A p.Arg309Trp missense TRD Unknown Not Rett synd. Male 4748 View details
c.1159_1160delCCinsT g.153296119_153296120delinsA p.Pro387fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Male 4776 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Male 4792 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Male 4793 View details
c.479C>G g.153296800G>C p.Thr160Ser missense MBD Unknown Not Rett synd. Male 4796 View details
c.[=/657-?_1316+?del] p.[=/?] in-frame insertion or deletion TRD Mutation associated with disease Rett syndrome-male variant Male 4807 View details
c.608C>T g.153296671G>A p.Thr203Met missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 4860 View details
c.1072G>A g.153296207C>T p.Ala358Thr missense C-term Polymorphism not causing disease Not Rett synd. Male 4893 View details
c.1327G>A g.153295952C>T p.Ala443Thr missense C-term Unknown Not Rett synd. Male 4897 View details
c.1233_1243del11 g.153296036_153296046del11 p.Ser411fs frameshift insertion or deletion C-term Unknown Not Rett synd. Male 4966 View details
c.590C>T g.153296689G>A p.Thr197Met missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 5076 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 5077 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 5079 View details
c.1053C>G g.153296226G>C p.Pro351Pro silent C-term Silent polymorphism Not Rett synd. Male 5080 View details
c.897C>T g.153296382G>A p.Thr299Thr silent TRD Silent polymorphism Not Rett synd. Male 5081 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5082 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5083 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5084 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5085 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5086 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5087 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5088 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5089 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5090 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5091 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5092 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5093 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5094 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5095 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5096 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5097 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5098 View details
MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Male 5114 View details
c.1180G>A g.153296099C>T p.Glu394Lys missense C-term Polymorphism not causing disease Not Rett synd. Male 5237 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del in-frame insertion or deletion C-term Polymorphism not causing disease Not Rett synd. Male 5250 View details
MECP2_e1:c.62+2_63+3delTG Intronic variation Frameshift deletion N-term Mutation associated with disease Rett syndrome-male variant Male 5327 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Male 6673 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del frameshift insertion or deletion C-term Unknown Not Rett synd. Male 6647 View details
c.506_507dupAG g.153296772_153296773dupCT p.Gln170fs frameshift insertion or deletion Inter-domain Mutation associated with disease Not Rett synd. Male 6638 View details
c.377A>T g.153297658T>A p.Asn126Ile missense MBD Unknown Not Rett synd. Male 6620 View details
c.1250A>T g.153296029T>A p.Lys417Met missense C-term Unknown Not Rett synd. Male 6619 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del in-frame insertion or deletion C-term Polymorphism not causing disease Not Rett synd. Male 6614 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd. Male 6607 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Not Rett synd. Male 6600 View details
c.499C>T g.153296780G>A p.Arg167Trp missense Inter-domain Unknown Not Rett synd. Male 6591 View details
c.1132G>T g.153296147C>A p.Ala378Ser missense C-term Unknown Not Rett synd. Male 6580 View details
MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Not Rett synd. Male 6840 View details
c.419C>T g.153296860G>A missense MBD Mutation associated with disease Not Rett synd. Male 6913 View details
c.608C>T g.153296671G>A missense Inter-domain region Polymorphism not causing disease Not Rett synd. Male 6911 View details
c.1193A>C g.153296086T>G missense C-term Polymorphism not causing disease Not Rett synd. Male 6910 View details
c.426C>T g.153296853G>A missense MBD Silent polymorphism Not Rett synd. Male 6907 View details
MECP2_e1: c.45_47dup g.153363076_153363078dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Known Male 6899 View details
MECP2_e1: c.638C>T g.153296677G>A missense TRD Polymorphism not causing disease Not Known Male 6898 View details
MECP2_e1: c.1453G>C g.153295862C>G missense C-term Unknown Not Rett synd. Male 6901 View details
c.1235_1260del26 g.153296019_153296044del26 p.Val412fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1 View details
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 2 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 3 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del In-frame insertion or deletion C-term Polymorphism not causing disease Rett syndrome-Not certain Female 4 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 5 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 6 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 7 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 8 View details
uncertain p.Ile314Ile Silent C-term Silent polymorphism Rett syndrome-Not certain Female 9 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 10 View details
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 11 View details
MECP2_e1: c.62+2_62+3delTG intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 3866 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 14 View details
c.474G>A g.153296805C>T p.Thr158Thr Silent MBD Silent polymorphism Rett syndrome-Not certain Female 15 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 16 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Rett syndrome-Not certain Female 17 View details
c.1153_1190del38 g.153296089_153296126del38 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 18 View details
c.834C>T g.153296445G>A p.Ala278Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 19 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 20 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 21 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 22 View details
c.1104_1106del3 g.153296173_153296175del3 p.His372del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Female 23 View details
c.1065C>T g.153296214G>A p.Ser355Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 24 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 25 View details
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 26 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 27 View details
c.289G>T g.153297746C>A p.Asp97Tyr Missense MBD Unknown Rett syndrome-Not certain Female 28 View details
c.398G>A g.153296881C>T p.Arg133His Missense MBD Unknown Rett syndrome-Not certain Female 29 View details
c.914A>G g.153296365T>C p.Lys305Arg Missense TRD Unknown Rett syndrome-Not certain Female 30 View details
c.730C>T g.153296549G>A p.Gln244* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 31 View details
c.710dupG g.153296569dupC p.Gly238fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 32 View details
c.748dupC g.153296531dupG p.Arg250fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 33 View details
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 34 View details
c.856_859delAAAG g.153296420_153296423delCTTT p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 35 View details
c.1012_1202del191 g.153296077_153296267del191 p.Thr338fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 36 View details
c.[1038_1119del82; 1169_1339del171ins137] p.Ser346fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 37 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 39 View details
c.1160_1185del26 g.153296094_153296119del26 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 40 View details
c.1160_1185del26 g.153296094_153296119del26 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 41 View details
c.1160_1185del26 g.153296094_153296119del26 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 42 View details
c.1164_1206del43 g.153296073_153296115del43 p.Pro389fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 43 View details
c.1454_1457del4 g.153295822_153295825del4 p.Val485fs Frameshift insertion or deletion C-term Unknown Rett syndrome-Not certain Female 44 View details
c.426C>T g.153296853G>A p.Phe142Phe Silent MBD Silent polymorphism Rett syndrome-Not certain Female 45 View details
c.590C>T g.153296689G>A p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Female 46 View details
c.834C>T g.153296445G>A p.Ala278Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 47 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 49 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 50 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 51 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 52 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 53 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 54 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 55 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 56 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 57 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 58 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 59 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 60 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 62 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 63 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 64 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 65 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 66 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 67 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 68 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 69 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 70 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 71 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 72 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 73 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 74 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 75 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 76 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 77 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 78 View details
c.965C>T g.153296314G>A p.Pro322Leu Missense C-term Unknown Rett syndrome-Not certain Female 79 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 80 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 81 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 82 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 83 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 84 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 85 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 86 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 87 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 88 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 89 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 90 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 91 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 92 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 93 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 94 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 95 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 96 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 97 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 98 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 99 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 100 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 101 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 102 View details
c.378-2A>G g.153296903T>C intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-Not certain Female 103 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 104 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 105 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 106 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 107 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 108 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 109 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Preserved speech Female 110 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 111 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 112 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 113 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 114 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 115 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 116 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 117 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 118 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 119 View details
c.904C>G g.153296375G>C p.Pro302Ala Missense TRD Unknown Rett syndrome-Preserved speech Female 120 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 121 View details
c.[965C>T(;)999G>T] g.[153296314G>A;153296280C>A] p.[Pro322Leu(;)Gly333Gly] Missense, silent C-term Unknown Rett syndrome-Not certain Female 122 View details
c.258_259delCA g.153297776_153297777delTG p.Ile87fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 123 View details
c.378-2A>G g.153296903T>C intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Female 124 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 125 View details
c.1163_1197del35 g.153296082_153296116del35 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 126 View details
c.1364_1365insC g.153295914_153295915insG p.Glu455fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Congenital onset Female 127 View details
c.1326C>T g.153295953G>A p.Thr442Thr Silent C-term Silent polymorphism Not Rett synd. Female 150 View details
c.602C>T g.153296677G>A p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Female 151 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 153 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 154 View details
c.372G>C g.153297663C>G p.Leu124Phe Missense MBD Unknown Rett syndrome-Classical Female 155 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 156 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 157 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 158 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 159 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 160 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 161 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 162 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 163 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 164 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 165 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 166 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 167 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Preserved speech Female 168 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 169 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 170 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 171 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 172 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 173 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 174 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 175 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 176 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 177 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 178 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 179 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 180 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 181 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 182 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 183 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 184 View details
c.375delC g.153297660delG p.Asn126fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Classical Female 185 View details
c.695delG g.153296584delC p.Gly232fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 186 View details
c.696delC g.153296583delG p.Lys233fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 187 View details
c.756_759delCAGG g.153296520_153296523delCCTG p.Arg253fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 188 View details
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 189 View details
c.302C>G g.153297733G>C p.Pro101Arg Missense MBD Unknown Rett syndrome-Not certain Female 190 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 191 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 192 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 193 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 194 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 195 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 196 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 197 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 198 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 199 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 200 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 201 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 202 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 203 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 204 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 205 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Rett syndrome-Not certain Female 206 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 207 View details
c.377+11G>C g.153297647C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 208 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Rett synd. Female 209 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Rett synd. Female 210 View details
c.1071C>T g.153296208G>A p.Ser357Ser Silent C-term Silent polymorphism Not Rett synd. Female 211 View details
c.378-61C>G g.153296962G>C intronic variation Intronic variation Intronic Unknown Not Rett synd. Female 212 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 213 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 214 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 215 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 216 View details
c.608C>T g.153296671G>A p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Rett syndrome-atypical Female 217 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Female 218 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Female 219 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 262 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 263 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 264 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 265 View details
c.467A>G g.153296812T>C p.Asp156Gly Missense MBD Unknown Rett syndrome-Not certain Female 266 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 267 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 268 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 269 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 270 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 271 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 272 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 273 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 274 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 275 View details
c.613G>T g.153296666C>A p.Glu205* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 276 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 277 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 278 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 279 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 280 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 281 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 282 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 283 View details
c.378-2A>G g.153296903T>C intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Female 284 View details
c.720dupC g.153296559dupG p.Thr241fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 285 View details
c.1156_1200del45 g.153296079_153296123del45 p.Leu386_Thr400del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Female 286 View details
c.1039_1195del157insGT g.153296084_153296240delinsAC p.Lys347fs Frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 287 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 288 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 289 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 290 View details
c.380C>T g.153296899G>A p.Pro127Leu Missense MBD Unknown Rett syndrome-Preserved speech Female 291 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 292 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 293 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 294 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 295 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 296 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 297 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 298 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 299 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 300 View details
c.508C>T g.153296771G>A p.Gln170* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 301 View details
c.674C>G g.153296605G>C p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Classical Female 302 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 303 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 304 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 305 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 306 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 307 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 308 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 309 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 310 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 311 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 312 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 313 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 314 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 315 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 316 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 317 View details
c.904C>G g.153296375G>C p.Pro302Ala Missense TRD Unknown Rett syndrome-Classical Female 318 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 319 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 320 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 321 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 322 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 323 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 324 View details
not certain p.Leu386fs Not known C-term Mutation associated with disease Rett syndrome-Classical Female 325 View details
not certain p.Leu386fs Not known C-term Mutation associated with disease Rett syndrome-Classical Female 326 View details
not certain p.Leu386fs Not known C-term Mutation associated with disease Rett syndrome-Classical Female 327 View details
not certain p.Leu386fs Not known C-term Mutation associated with disease Rett syndrome-Classical Female 328 View details
c.398G>T g.153296881C>A p.Arg133Leu Missense MBD Unknown Rett syndrome-Classical Female 329 View details
c.423C>G g.153296856G>C p.Tyr141* Nonsense MBD Mutation associated with disease Rett syndrome-Classical Female 330 View details
c.431delA g.153296848delT p.Lys144fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Classical Female 331 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 332 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 333 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 334 View details
c.674C>G g.153296605G>C p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Classical Female 335 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 336 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 337 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 338 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 339 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 340 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 341 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 342 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 343 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 344 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 345 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 346 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 347 View details
c.1160_1200del41 g.153296079_153296119del41 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 348 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 349 View details
c.1165_1233del69ins21 p.Pro389_Pro411del23ins7 In-frame combined insertion and deletion C-term Unknown Rett syndrome-Classical Female 350 View details
c.984C>T g.153296295G>A p.Leu328Leu Silent C-term Silent polymorphism Rett syndrome-Classical Female 351 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 355 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 354 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 356 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 357 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 358 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 359 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 360 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 361 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 362 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 363 View details
c.426C>T g.153296853G>A p.Phe142Phe Silent MBD Silent polymorphism Rett syndrome-Atypical Female 364 View details
c.426C>T g.153296853G>A p.Phe142Phe Silent MBD Silent polymorphism Not Rett synd. Female 365 View details
c.1163_1197del35 g.153296082_153296116del35 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 367 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 368 View details
c.753dupC g.153296526dupG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 369 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 370 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 371 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Classical Female 372 View details
c.[590C>T(;)674C>T] g.[153296689G>A;153296605G>A] p.[Thr197Met(;)Pro225Arg] Missense Inter-domain region, TRD Mutation associated with disease Rett syndrome-Atypical Female 374 View details
c.590C>T g.153296689G>A p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Female 375 View details
c.590C>T g.153296689G>A p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Female 376 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 377 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 378 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 379 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 380 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 382 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 383 View details
c.[1157_1197del41; 1232_1240del9] g.[153296082_153296122del41;153296039_153296047del9] p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 384 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 385 View details
c.710dupG g.153296569dupC p.Gly238fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 386 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 387 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 388 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 389 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 390 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 391 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 392 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 393 View details
c.1430G>C g.153295849C>G p.Ser477Thr Missense C-term Polymorphism not causing disease Not Rett synd. Female 395 View details
c.[880C>T(;)1430G>C] g.[153296399G>A;153295849C>G] p.[Arg294*(;)Ser477Thr] Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 396 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 397 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Classical Female 398 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 400 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 401 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 402 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 403 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 404 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 405 View details
c.1450_*12del24 g.153295806_153295829del24 p.Val485_Ser486delins21 In-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 406 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 407 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 408 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 409 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 410 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 411 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 412 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Classical Female 413 View details
c.1335G>A g.153295944C>T p.Thr445Thr Silent C-term Silent polymorphism Not Rett synd. Female 414 View details
c.1335G>A g.153295944C>T p.Thr445Thr Silent C-term Silent polymorphism Rett syndrome-Atypical Female 415 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 416 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 417 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 418 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 419 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 420 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 421 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 422 View details
c.[1104C>T; 1107_1327del221] g.[153296175G>A;153295952_153296172del221] p.[His368His;His370fs] Silent, frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 423 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 424 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 425 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 426 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 427 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 428 View details
c.1155_1200del46 g.153296079_153296124del46 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 429 View details
c.598A>T g.153296681T>A p.Lys200* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 430 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Atypical Female 431 View details
c.398G>A g.153296881C>T p.Arg133His Missense MBD Unknown Rett syndrome-Atypical Female 433 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 434 View details
c.[897C>T(;)1155_1200del46] g.[153296382G>A;153296079_153296124del46] p.[Thr299Thr(;)Leu386fs] Silent, frameshift insertion or deletion TRD, C-term Mutation associated with disease Rett syndrome-Atypical Female 435 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Rett synd. Female 436 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Female 437 View details
c.[473C>T];[1189G>A] p.[Thr158Met];[Glu397Lys] Missense MBD, C-term Mutation associated with disease Rett syndrome-Atypical Female 438 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 439 View details
c.[397C>T(;)438C>T] g.[153296882G>A;153296841G>A] p.[Arg133Cys(;)Gly146Gly] Missense, silent MBD Mutation associated with disease Rett syndrome-Classical Female 440 View details
c.[819G>T(;)1161C>T] g.[153296460C>A;153296118G>A] p.[Gly273Gly(;)Pro387Pro] Silent TRD, C-term Silent polymorphism Rett syndrome-Atypical Female 441 View details
c.819G>T g.153296460C>A p.Gly273Gly Silent TRD Silent polymorphism Not Rett synd. Female 442 View details
c.480_481delTG g.153296798_153296799delCA p.Gly161fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Atypical Female 443 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 444 View details
c.[806delG(;) *8C>T] g.[153296473delC;153295810G>A] p.Gly269fs frameshift insertion or deletion, 3'UTR variation TRD-NLS, 3'UTR Mutation associated with disease Rett syndrome-Classical Female 446 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 447 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 448 View details
c.*8C>T g.153295810G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 449 View details
c.812_818del7 g.153296461_153296467del7 p.Lys271fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 450 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 451 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 452 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 453 View details
c.[808C>T(;) 1233C>T] g.[153296471G>A;153296046G>A] p.[Arg270*(;) Ser411Ser] nonsense, silent TRD-NLS, C-term Mutation associated with disease Rett syndrome-Classical Female 454 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 455 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 456 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 457 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 458 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 459 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 460 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 461 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 462 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 463 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 464 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 465 View details
c.1403_1408del6 g.153295871_153295876del6 p.Arg468_Pro469del In-frame insertion or deletion C-term Unknown Rett syndrome-Classical Female 466 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Classical Female 467 View details
c.100_103delGATA g.153297932_153297935delTATC p.Asp34fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 468 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 469 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Atypical Female 470 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 471 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 472 View details
c.[916C>T(;)984C>T] g.[153296363G>A;153296295G>A] p.[Arg306Cys(;)Leu328Leu] Missense, silent TRD, C-term Mutation associated with disease Rett syndrome-Classical Female 473 View details
c.984C>T g.153296295G>A p.Leu328Leu Silent C-term Silent polymorphism Not Rett synd. Female 474 View details
c.[608C>T(;)763C>T] g.[153296671G>A;153296516G>A] p.[Thr203Met(;)Arg255*] Missense, nonsense inter-domain region, TRD Mutation associated with disease Rett syndrome-Classical Female 475 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Not Known Female 476 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 477 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 478 View details
c.27-8C>G g.153298016G>C intronic variation Intronic variation Intronic Unknown Rett syndrome-Classical Female 479 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 480 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 481 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 482 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Rett synd. Female 953 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Classical Female 952 View details
c.-15C>T g.153357682G>A 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd. Female 951 View details
c.-15C>T g.153357682G>A 5'UTR variation 5'UTR variation 5'UTR Unknown Rett syndrome-Classical Female 950 View details
c.1158_1167del10 g.153296112_153296121del10 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 949 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 948 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 947 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 946 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 945 View details
c.677_678insA g.153296601_153296602insT p.Phe226fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 944 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 943 View details
c.1461A>C g.153295818T>G p.*487Cysext*27 Nonstop C-term Unknown Rett syndrome-Classical Female 942 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 941 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 940 View details
c.1038C>G g.153296241G>C p.Ser346Arg Missense C-term Mutation associated with disease Rett syndrome-Classical Female 939 View details
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Classical Female 938 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 937 View details
c.1156_1172del17 g.153296107_153296123del17 p.Leu386* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 936 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 935 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 934 View details
c.1194_1195insT g.153296084_153296085insA p.Pro399fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 933 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 932 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 931 View details
c.592A>T g.153296687T>A p.Arg198* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 930 View details
c.1165_1190del26 g.153296089_153296114del26 p.Pro389fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 929 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 928 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 927 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 926 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 925 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 924 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 923 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 922 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Classical Female 921 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 920 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Female 848 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Female 847 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 846 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 845 View details
c.1216C>T g.153296063G>A p.Gln406* Nonsense C-term Mutation associated with disease Not Rett synd. Female 1542 View details
c.1161_1400del240 g.153295879_153296118del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Not Rett synd. Female 837 View details
c.1161_1400del240 g.153295879_153296118del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Not Rett synd. Female 835 View details
c.686C>T g.153296593G>A p.Ser229Leu Missense TRD Polymorphism not causing disease Rett syndrome-Classical Female 1011 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1025 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1026 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1027 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1028 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1029 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1030 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1031 View details
c.464T>C g.153296815A>G p.Phe155Ser Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1032 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1033 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1034 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1035 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1036 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1037 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1038 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1039 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1040 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1041 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1042 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1043 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1044 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1045 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1046 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1047 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1048 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1049 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1050 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1051 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1052 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1053 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1054 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1055 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1056 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1057 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1058 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1059 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1060 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1061 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1062 View details
c.423C>G g.153296856G>C p.Tyr141* Nonsense MBD Mutation associated with disease Rett syndrome-Not certain Female 1063 View details
c.430A>T g.153296849T>A p.Lys144* Nonsense MBD Mutation associated with disease Rett syndrome-Not certain Female 1064 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1065 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1066 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1067 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1068 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1069 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1070 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1071 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1072 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1073 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1074 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1075 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1076 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1077 View details
c.508C>T g.153296771G>A p.Gln170* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1078 View details
c.611C>G g.153296668G>C p.Ser204* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1079 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1080 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1081 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1082 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1083 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1084 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1085 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1086 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1087 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1088 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1089 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1090 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1091 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1092 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1093 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1094 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1095 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1096 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1097 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1098 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1099 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1100 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1101 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1102 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1103 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1104 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1105 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1106 View details
c.1079C>A g.153296200G>T p.Ser360* Nonsense C-term Mutation associated with disease Rett syndrome-Not certain Female 1107 View details
c.378-2A>G g.153296903T>C intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Female 1108 View details
c.554delG g.153296725delC p.Gly185fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1109 View details
c.710delG g.153296569delC p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1110 View details
c.753delC g.153296526delG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1111 View details
c.752_753dupCC g.153296526_153296527dupGG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1112 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1113 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1114 View details
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1115 View details
c.[965_970del6; 1029dupG; 1138_1208del71] g.[153296309_153296314del6;153296250dupC;153296071_153296141del71] 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 View details
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 View details
c.[1161_1166del6; 1180_1205del26] g.[153296113_153296118del6;153296074_153296099del26] 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 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1119 View details
c.[1163_1173del11; 1176_1193del18] g.[153296106_153296116del11;153296086_153296103del18] p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1120 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1121 View details
c.1308_1309delTC g.153295970_153295971delGA p.Gln437fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1122 View details
c.375C>A g.153297660G>T p.Ile125Ile Silent MBD Silent polymorphism Rett syndrome-Not certain Female 1123 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Female 1124 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Female 1125 View details
c.608C>T g.153296671G>A p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Female 1126 View details
c.843C>T g.153296436G>A p.Ala281Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1127 View details
c.984C>T g.153296295G>A p.Leu328Leu Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1128 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1129 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1130 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1131 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1132 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1133 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1134 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1135 View details
c.1330G>A g.153295949C>T p.Ala444Thr Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1136 View details
c.1330G>A g.153295949C>T p.Ala444Thr Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1137 View details
c.257C>G g.153297778G>C p.Ser86Cys Missense MBD Unknown Rett syndrome-Not certain Female 1138 View details
c.298C>G g.153297737G>C p.Leu100Val Missense MBD Unknown Rett syndrome-Not certain Female 1139 View details
c.859G>C g.153296420C>G p.Ala287Pro Missense TRD Unknown Rett syndrome-Not certain Female 1140 View details
c.871T>G g.153296408A>C p.Ser291Ala Missense TRD Unknown Rett syndrome-Not certain Female 1141 View details
c.914A>G g.153296365T>C p.Lys305Arg Missense TRD Unknown Rett syndrome-Not certain Female 1142 View details
c.1234G>A g.153296045C>T p.Val412Ile Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1143 View details
c.1164_1172del9 g.153296107_153296115del9 p.Pro389_Pro391del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Female 1144 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1145 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1146 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1147 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1148 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Rett synd. Female 1149 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 1151 View details
c.302C>G g.153297733G>C p.Pro101Arg Missense MBD Unknown Not Rett synd. Female 1152 View details
c.1159_1210del52 g.153296069_153296120del52 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 1153 View details
c.423C>G g.153296856G>C p.Tyr141* Nonsense MBD Mutation associated with disease Not Rett synd. Female 1154 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1156 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1157 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1158 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1159 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1160 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1161 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1162 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1163 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1164 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1165 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1166 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1167 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1168 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1169 View details
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1171 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 1175 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 1176 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 1177 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Preserved speech Female 1178 View details
c.1158_1186del29 g.153296093_153296121del29 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 1179 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 1180 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 1181 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Rett synd. Female 1540 View details
c.1061_1156del96 g.153296123_153296218del96 p.Arg352_Pro385del In-frame insertion or deletion C-term Unknown Rett syndrome-Classical Female 1196 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1197 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1198 View details
c.753dupC g.153296526dupG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 1200 View details
c.345delC g.153297690delG p.Ser116fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Classical Female 1201 View details
c.898_1099del202 g.153296180_153296381del202 p.Val300fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 1202 View details
c.1127_1179del53 g.153296100_153296152del53 p.Pro376fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1205 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1206 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1207 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1208 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1209 View details
c.1326C>T g.153295953G>A p.Thr442Thr Silent C-term Silent polymorphism Rett syndrome-Classical Female 1210 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1211 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1212 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1213 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1214 View details
c.298C>G g.153297737G>C p.Leu100Val Missense MBD Unknown Rett syndrome-Classical Female 1215 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1216 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1217 View details
c.1176G>A g.153296103C>T p.Glu392Glu Silent C-term Silent polymorphism Rett syndrome-Classical Female 1218 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1219 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1220 View details
c.289G>T g.153297746C>A p.Asp97Tyr Missense MBD Unknown Rett syndrome-Classical Female 1221 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1223 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1224 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1225 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1226 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1227 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1228 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1229 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1230 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1231 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1232 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 1233 View details
c.840C>T g.153296439G>A p.Ala280Ala Silent TRD Silent polymorphism Not Rett synd. Female 1234 View details
c.[763C>T(;)1449G>C] g.[153296516G>A;153295830C>G] p.[Arg255*(;)Glu483Asp] Nonsense TRD, C-term Mutation associated with disease Rett syndrome-Classical Female 1235 View details
c.[802C>T(;) 808C>T] g.[153296477G>A;153296471G>A] p.[Arg268Trp(;) Arg270*] Missense, nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1236 View details
c.[750C>T(;)1459T>C] g.[153296529G>A;153295820A>G] p.[Arg250Arg(;)*487Argext27] Silent, nonstop TRD, C-term Unknown Rett syndrome-Classical Female 1237 View details
c.750C>T g.153296529G>A p.Arg250Arg Silent TRD Silent polymorphism Not Rett synd. Female 1238 View details
c.488_489delGG g.153296790_153296791delCC p.Gly163fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1240 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Female 1241 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1242 View details
c.468C>G g.153296811G>C p.Asp156Glu Missense MBD Unknown Rett syndrome-Not certain Female 1243 View details
c.468C>G g.153296811G>C p.Asp156Glu Missense MBD Unknown Rett syndrome-Not certain Female 1244 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1245 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1246 View details
c.531delA g.153296748delT p.Lys177fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1247 View details
c.635_655del21 g.153296624_153296644del21 p.Val212_Lys219delinsGlu In-frame insertion or deletion TRD Unknown Rett syndrome-Not certain Female 1248 View details
c.674C>G g.153296605G>C p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1249 View details
c.674C>G g.153296605G>C p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1250 View details
c.674C>G g.153296605G>C p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1251 View details
c.753delC g.153296526delG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1252 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1253 View details
c.880_884del5 g.153296395_153296399del5 p.Arg294fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1254 View details
c.1099_1118del20 g.153296161_153296180del20 p.His367fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1255 View details
c.1121_1191del71 g.153296088_153296158del71 p.Glu374fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1256 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1257 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1258 View details
c.1167_1200del34 g.153296079_153296112del34 p.Pro390fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1259 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1260 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1261 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1262 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1263 View details
c.55C>T g.153297980G>A p.Gln19* Nonsense N-term Mutation associated with disease Rett syndrome-Atypical Female 1264 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Female 1265 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Female 1267 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Female 1271 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1376 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1377 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1378 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1379 View details
c.750_750delCinsTCAGGAAGCTT g.153296529delinsAAGCTTCCTGA p.Pro251fs Frameshift combined insertion and deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1380 View details
c.1043_1173del131insTG g.153296106_153296236delinsCA p.Glu348_Pro391delinsVal In-frame combined insertion and deletion C-term Unknown Rett syndrome-Not certain Female 1381 View details
c.377+6_377+9del g.153297649_153297652del intronic variation Intronic variation Intronic Unknown Not Rett synd. Female 1382 View details
c.602C>T g.153296677G>A p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Not Known Female 1385 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 1386 View details
c.1075T>C g.153296204A>G p.Ser359Pro Missense C-term Polymorphism not causing disease Not Rett synd. Female 1389 View details
c.1075T>C g.153296204A>G p.Ser359Pro Missense C-term Polymorphism not causing disease Not Rett synd. Female 1390 View details
c.1075T>C g.153296204A>G p.Ser359Pro Missense C-term Polymorphism not causing disease Not Rett synd. Female 1391 View details
c.1075T>C g.153296204A>G p.Ser359Pro Missense C-term Polymorphism not causing disease Not Rett synd. Female 1392 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1395 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1396 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1397 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1398 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1399 View details
c.898G>A g.153296381C>T p.Val300Ile Missense TRD Unknown Rett syndrome-Classical Female 1400 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1401 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1402 View details
c.964C>G g.153296315G>C p.Pro322Ala Missense C-term Unknown Rett syndrome-Classical Female 1403 View details
c.64A>T g.153297971T>A p.Lys22* Nonsense N-term Mutation associated with disease Rett syndrome-Classical Female 1404 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1405 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1406 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1407 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1408 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1409 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1410 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1411 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1412 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1413 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1414 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1415 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1416 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1417 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1418 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1419 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1420 View details
c.889C>T g.153296390G>A p.Gln297* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1421 View details
c.889C>T g.153296390G>A p.Gln297* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1422 View details
c.696delC g.153296583delG p.Lys233fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 1423 View details
c.710dupG g.153296569dupC p.Gly238fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 1424 View details
c.736_737insAT g.153296542_153296543insAT p.Met246fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 1425 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1426 View details
c.1160_1188del29 g.153296091_153296119del29 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1427 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1428 View details
c.1200dupC g.153296079dupG p.Ser401fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1429 View details
c.602C>T g.153296677G>A p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Classical Female 1430 View details
c.777C>T g.153296502G>A p.Ala259Ala Silent TRD-NLS Silent polymorphism Rett syndrome-Classical Female 1431 View details
c.903C>T g.153296376G>A p.Leu301Leu Silent TRD Silent polymorphism Rett syndrome-Classical Female 1432 View details
c.378-241C>T g.153297142G>A intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Classical Female 1433 View details
c.301C>T g.153297734G>A p.Pro101Ser Missense MBD Unknown Rett syndrome-Classical Female 1436 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1437 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1438 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1439 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1440 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1441 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1442 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1443 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1444 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1445 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1446 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1447 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1448 View details
c.622C>T g.153296657G>A p.Gln208* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1449 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1450 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1451 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1452 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1453 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1454 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1455 View details
c.1152_1195del44 g.153296084_153296127del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1456 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1457 View details
c.35_42dup g.153297993_153298000dup p.Asp15fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 1458 View details
c.64A>T g.153297971T>A p.Lys22* Nonsense N-term Mutation associated with disease Rett syndrome-Classical Female 1459 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1460 View details
c.423C>G g.153296856G>C p.Tyr141* Nonsense MBD Mutation associated with disease Rett syndrome-Classical Female 1461 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1462 View details
c.472A>G g.153296807T>C p.Thr158Ala Missense MBD Unknown Rett syndrome-Preserved speech Female 1463 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1464 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1465 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1466 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1467 View details
c.566delG g.153296713delC p.Gly189fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1468 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1469 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1470 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1471 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1472 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1473 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1474 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1475 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1476 View details
c.1116_1201del86 g.153296078_153296163del86 p.His372fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1477 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1478 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Rett synd. Female 1479 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1481 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1482 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1483 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1491 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1492 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Rett synd. Female 1493 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1495 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd. Female 1497 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1498 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1499 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Female 1500 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Female 1503 View details
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 1530 View details
c.1030C>T g.153296249G>A p.Arg344Trp Missense C-term Unknown Not Rett synd. Female 1533 View details
c.590C>T g.153296689G>A p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Female 1535 View details
c.1196C>T g.153296083G>A p.Pro399Leu Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1536 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1538 View details
c.1216C>T g.153296063G>A p.Gln406* Nonsense C-term Mutation associated with disease Not Rett synd. Female 1544 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1545 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 1546 View details
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 1550 View details
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 1551 View details
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 1552 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-classical Female 1554 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Rett synd. Female 1555 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Rett synd. Female 1556 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Female 1557 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-atypical Female 1558 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-atypical Female 1559 View details
c.753delC g.153296526delG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 1560 View details
c.422dupA g.153296857dupT p.Tyr141* Frameshift insertion or deletion MBD Mutation associated with disease Not Known Female 1561 View details
c.542C>T g.153296737G>A p.Ala181Val Missense Inter-domain region Unknown Not Rett synd. Female 1565 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Rett synd. Female 1566 View details
c.[984C>T; 1161_1163del] g.[153296295G>A;153296116_153296118del] p.[Leu328Leu; Pro391del] Silent, in-frame insertion or deletion C-term Polymorphism not causing disease Not Rett synd. Female 1567 View details
c.[984C>T; 1161_1163del] g.[153296295G>A;153296116_153296118del] p.[Leu328Leu; Pro391del] Silent, in-frame insertion or deletion C-term Polymorphism not causing disease Not Rett synd. Female 1568 View details
c.[1126C>T];[1126C>T] p.[Pro376Ser];[Pro376Ser] Missense C-term Polymorphism not causing disease Not Rett synd. Female 1571 View details
c.1137C>T g.153296142G>A p.Pro379Pro Silent C-term Silent polymorphism Not Rett synd. Female 1572 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Female 1573 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Rett synd. Female 1576 View details
c.1205C>T g.153296074G>A p.Pro402Leu Missense C-term Polymorphism not causing disease Not Rett synd. Female 1579 View details
c.1205C>T g.153296074G>A p.Pro402Leu Missense C-term Polymorphism not causing disease Not Rett synd. Female 1581 View details
c.1205C>T g.153296074G>A p.Pro402Leu Missense C-term Polymorphism not causing disease Not Rett synd. Female 1582 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 1584 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 1585 View details
c.377+95G>A g.153297563C>T intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 1586 View details
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Rett synd. Female 1587 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Female 1589 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1590 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1591 View details
MECP2_e1: c.5C>T MeCP2_e1: p.A2V missense N-term Unknown Rett syndrome-classical Female 3864 View details
c.834C>T g.153296445G>A p.Ala278Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1593 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1594 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1595 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1596 View details
c.710delG g.153296569delC p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1598 View details
c.602C>T g.153296677G>A p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Female 1599 View details
c.602C>T g.153296677G>A p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Female 1600 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1601 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1602 View details
c.[1125_1137del13; 1138_1263inv; 1158_1201del; 1263_1264insGGA] g.[153296142_153296154del13;153296016_153296141inv;153296078_153296121del;153296015_153296016insTCC] p.Pro376fs Frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1603 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1604 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1605 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1606 View details
c.856_859delAAAG g.153296420_153296423delCTTT p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1607 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1608 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1609 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1610 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1611 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1612 View details
c.527C>G g.153296752G>C p.Pro176Arg Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Female 1614 View details
MECP2_e1: c.1A>T MeCP2_e1: p.M1? missense N-term Unknown Rett syndrome-classical Female 3865 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1617 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1618 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1619 View details
c.898_904del7 g.153296375_153296381del7 p.Val300fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1620 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1621 View details
c.469T>A g.153296810A>T p.Phe157Ile Missense MBD Unknown Rett syndrome-Not certain Female 1622 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1623 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1624 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1625 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1626 View details
c.1071C>T g.153296208G>A p.Ser357Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1627 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1628 View details
c.26+2T>A g.153357640A>T intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Female 1629 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1630 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1631 View details
c.683C>G g.153296596G>C p.Thr228Ser Missense TRD Polymorphism not causing disease Rett syndrome-Not certain Female 1632 View details
c.750C>T g.153296529G>A p.Arg250Arg Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1633 View details
c.674C>G g.153296605G>C p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1634 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1635 View details
c.905C>T g.153296374G>A p.Pro302Leu Missense TRD Unknown Rett syndrome-Not certain Female 1636 View details
c.1441G>A g.153295838C>T p.Val481Met Missense C-term Unknown Rett syndrome-Not certain Female 1637 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1638 View details
c.393C>G g.153296886G>C p.Ala131Ala Silent MBD Silent polymorphism Rett syndrome-Not certain Female 1639 View details
c.428_429insT g.153296850_153296851insA p.Glu143fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1641 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1642 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1643 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1644 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1645 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1646 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1647 View details
c.298C>G g.153297737G>C p.Leu100Val Missense MBD Unknown Rett syndrome-Not certain Female 1648 View details
c.840C>T g.153296439G>A p.Ala280Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1649 View details
c.1340C>T g.153295939G>A p.Ala447Val Missense C-term Unknown Rett syndrome-Not certain Female 1650 View details
c.674C>G g.153296605G>C p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1651 View details
c.815C>T g.153296464G>A p.Pro272Leu Missense TRD Polymorphism not causing disease Rett syndrome-Not certain Female 1652 View details
c.815C>T g.153296464G>A p.Pro272Leu Missense TRD Polymorphism not causing disease Not Rett synd. Female 1654 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1655 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1656 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1660 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1661 View details
c.1271_1416del146 g.153295863_153296008del146 p.Leu424fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1662 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1663 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1664 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1665 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1666 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1667 View details
c.753delC g.153296526delG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1668 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 1669 View details
c.1194_1195insT g.153296084_153296085insA p.Pro399fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1670 View details
c.764_765ins8 p.Arg255fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1671 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Not Rett synd. Female 1672 View details
c.529A>T g.153296750T>A p.Lys177* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1674 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1675 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1676 View details
c.378-2A>C g.153296903T>G intronic variation Intronic variation Intronic Mutation associated with disease Not Known Female 1677 View details
c.46C>T g.153297989G>A p.Gln16* Nonsense N-term Mutation associated with disease Not Known Female 1678 View details
c.523A>T g.153296756T>A p.Lys175* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1679 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 1680 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1681 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1682 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1683 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1684 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1685 View details
c.905C>T g.153296374G>A p.Pro302Leu Missense TRD Unknown Not Known Female 1686 View details
c.301C>T g.153297734G>A p.Pro101Ser Missense MBD Unknown Not Known Female 1687 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1688 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1689 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1690 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1691 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1692 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1693 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1694 View details
c.1105delC g.153296174delG p.His369fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1695 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1696 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1697 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1698 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1699 View details
c.1461A>G g.153295818T>C p.*487Trpext*27 Nonstop C-term Unknown Not Known Female 1700 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1701 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 1702 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1703 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1704 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 1705 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1706 View details
c.953A>C g.153296326T>G p.Glu318Ala Missense C-term Unknown Rett syndrome-classical Female 1707 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1708 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1709 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1710 View details
c.1330_1342del13 g.153295937_153295949del13 p.Ala444fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1711 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1712 View details
c.229_238del10 g.153297797_153297806del10 p.Ala77fs Frameshift insertion or deletion N-term Mutation associated with disease Not Known Female 1713 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1714 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1715 View details
c.1338_1354del g.153295925_153295941del p.Ala447fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1716 View details
c.1087A>T g.153296192T>A p.Lys363* Nonsense C-term Mutation associated with disease Not Known Female 1717 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1718 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1719 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1720 View details
c.1324_1364del41 g.153295915_153295955del41 p.Thr442fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1721 View details
c.807_*125del780 g.153295693_153296472del780 p.Arg270_Ser486delinsGln In-frame insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 1722 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1723 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Known Female 1724 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1725 View details
c.611C>G g.153296668G>C p.Ser204* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1726 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1727 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1728 View details
c.210C>T g.153297825G>A p.Ser70Ser Silent N-term Silent polymorphism Not Known Female 1729 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1730 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1731 View details
c.194C>G g.153297841G>C p.Ser65* Nonsense N-term Mutation associated with disease Not Known Female 1732 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1733 View details
c.710delG g.153296569delC p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1734 View details
c.819G>T g.153296460C>A p.Gly273Gly Silent TRD Silent polymorphism Not Known Female 1735 View details
c.1129_1193del65 g.153296086_153296150del65 p.Lys377fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1736 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1738 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1739 View details
c.401C>T g.153296878G>A p.Ser134Phe Missense MBD Unknown Not Known Female 1740 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1741 View details
c.1157_1191del35 g.153296088_153296122del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1742 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1743 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 1744 View details
c.1041_*29del450 g.153295789_153296238del450 p.Lys347_Ser486delins17 In-frame insertion or deletion C-term Mutation associated with disease Not Known Female 1745 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1746 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1747 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1748 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1749 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1750 View details
c.1157_1192del36 g.153296087_153296122del36 p.Leu386_Asp398delinsHis In-frame insertion or deletion C-term Unknown Not Known Female 1751 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1752 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1753 View details
c.1157_1191del35 g.153296088_153296122del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1754 View details
c.146C>A g.153297889G>T p.Ser49* Nonsense N-term Mutation associated with disease Not Known Female 1755 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Known Female 1757 View details
c.854dupA g.153296425dupT p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1758 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1759 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1760 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1761 View details
c.46C>T g.153297989G>A p.Gln16* Nonsense N-term Mutation associated with disease Not Known Female 1762 View details
c.210C>T g.153297825G>A p.Ser70Ser Silent N-term Silent polymorphism Not Known Female 1763 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Not Known Female 1764 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1765 View details
c.249_250ins7 p.Arg84fs Frameshift insertion or deletion MBD Mutation associated with disease Not Known Female 1766 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1767 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1768 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1769 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1770 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1772 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1773 View details
c.651_652delTG g.153296627_153296628delCA p.Gly218fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1774 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1775 View details
c.1157_1191del35 g.153296088_153296122del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1776 View details
c.1115_1201del87 g.153296078_153296164del87 p.His372_Ser401delinsArg In-frame insertion or deletion C-term Unknown Not Known Female 1777 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1778 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1779 View details
c.1157_1191del35 g.153296088_153296122del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1780 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1781 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1782 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1783 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1784 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1785 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1786 View details
c.715delG g.153296564delC p.Ala239fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1787 View details
c.468C>G g.153296811G>C p.Asp156Glu Missense MBD Unknown Not Known Female 1788 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1789 View details
c.760A>T g.153296519T>A p.Lys254* Nonsense TRD Mutation associated with disease Not Known Female 1790 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1791 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1792 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Not Known Female 1793 View details
c.710dupG g.153296569dupC p.Gly238fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1795 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1796 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1797 View details
c.397C>G g.153296882G>C p.Arg133Gly Missense MBD Unknown Not Known Female 1798 View details
c.864dupG g.153296415dupC p.Lys289fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1799 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1800 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1801 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1802 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1803 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1804 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Not Known Female 1805 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1806 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1807 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Known Female 1809 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Known Female 1810 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Known Female 1811 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 1812 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1813 View details
c.1157_1191del35 g.153296088_153296122del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1814 View details
c.753delC g.153296526delG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1815 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1816 View details
c.-168-?_26+?del g.153357642_153363130del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-Not certain Female 1820 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1821 View details
c.301C>T g.153297734G>A p.Pro101Ser Missense MBD Unknown Rett syndrome-Not certain Female 1822 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1823 View details
c.1265_1289del25insAGCGGCCG g.153295990_153296014delinsCGGCCGCT p.Gly422fs Frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1824 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1825 View details
c.375C>A g.153297660G>T p.Ile125Ile Silent MBD Silent polymorphism Rett syndrome-Not certain Female 1826 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1827 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1828 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1829 View details
c.[763C>T(;)1071C>T] g.[153296516G>A;153296208G>A] p.[Arg255*(;)Ser357Ser] Nonsense, silent TRD, C-term Mutation associated with disease Rett syndrome-Not certain Female 1830 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1831 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1832 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1833 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1834 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1835 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1836 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1838 View details
c.470dupT g.153296809dupA p.Thr158fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1839 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1840 View details
c.856_859delAAAG g.153296420_153296423delCTTT p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1841 View details
c.1160_1200del41 g.153296079_153296119del41 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1842 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1843 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1844 View details
c.[777C>T(;)1157_1197del41] g.[153296502G>A;153296082_153296122del41] p.[Ala259Ala(;)Leu386fs] Silent, frameshift insertion or deletion TRD-NLS, C-term Mutation associated with disease Rett syndrome-Not certain Female 1845 View details
c.777C>T g.153296502G>A p.Ala259Ala Silent TRD-NLS Silent polymorphism Not Rett synd. Female 1846 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1847 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1848 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1849 View details
c.608C>T g.153296671G>A p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Female 1850 View details
c.749G>A g.153296530C>T p.Arg250His Missense TRD Polymorphism not causing disease Rett syndrome-Not certain Female 1852 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1854 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1855 View details
c.1161_1205del45insA g.153296074_153296118delinsT p.Pro389* Frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1856 View details
c.108_111delAGAA g.153297924_153297927delTTCT p.Glu37fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Not certain Female 1857 View details
c.932C>T g.153296347G>A p.Thr311Met Missense C-term Unknown Rett syndrome-Not certain Female 1858 View details
c.27-2A>G g.153298010T>C intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Female 1859 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1860 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1861 View details
c.598A>T g.153296681T>A p.Lys200* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1862 View details
c.1123_1202del80 g.153296077_153296156del80 p.Ser375fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1863 View details
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1864 View details
c.-168-?_26+?del g.153357642_153363130del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-Not certain Female 1865 View details
c.748dupC g.153296531dupG p.Arg250fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1866 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1867 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1868 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1869 View details
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1870 View details
c.710delG g.153296569delC p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1871 View details
c.748_753del6insGGCCG g.153296526_153296531delinsCGGCC p.Arg250fs Frameshift combined insertion and deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1872 View details
c.611_612delinsAG g.153296667_153296668delinsCT p.Ser204* frameshift combined insertion and deletion Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1873 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1874 View details
c.[609G>A(;)905C>T] g.[153296670C>T;153296374G>A] p.[Thr203Thr(;)Pro302Leu] Silent, missense Inter-domain region, TRD Unknown Rett syndrome-Not certain Female 1875 View details
c.108_111delAGAA g.153297924_153297927delTTCT p.Glu37fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Not certain Female 1876 View details
c.297C>G g.153297738G>C p.Thr99Thr Silent MBD Silent polymorphism Rett syndrome-Not certain Female 1877 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1878 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1879 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1880 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1881 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1882 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1883 View details
c.341G>C g.153297694C>G p.Gly114Ala Missense MBD Unknown Rett syndrome-Not certain Female 1884 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1886 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1887 View details
c.483delG g.153296796delC p.Arg162fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1888 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1889 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1890 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1892 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1893 View details
c.777C>T g.153296502G>A p.Ala259Ala Silent TRD-NLS Silent polymorphism Rett syndrome-Not certain Female 1894 View details
c.792_793delTC g.153296486_153296487delGA p.Pro265fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1895 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1896 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1897 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1898 View details
c.819G>T g.153296460C>A p.Gly273Gly Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1899 View details
c.843C>T g.153296436G>A p.Ala281Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1900 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1901 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1902 View details
c.881G>C g.153296398C>G p.Arg294Pro Missense TRD Polymorphism not causing disease Rett syndrome-Not certain Female 1903 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1905 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1906 View details
c.1012_1193del182 g.153296086_153296267del182 p.Thr338fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1907 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1909 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1910 View details
c.1266C>T g.153296013G>A p.Gly422Gly Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1911 View details
c.1446C>T g.153295833G>A p.Thr482Thr Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1912 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Not certain Female 1913 View details
c.*122delT g.153295696delA 3'UTR variation 3'UTR variation 3'UTR Unknown Rett syndrome-Not certain Female 1915 View details
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? frameshift insertion or deletion N-term Unknown Rett syndrome-Not certain Female 1916 View details
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1917 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Not certain Female 1918 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Not certain Female 1919 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 1920 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 1921 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1922 View details
c.315dupA g.153297720dupT p.Arg106fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 1923 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-classical Female 1924 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-classical Female 1925 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-atypical Female 1926 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1927 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 1928 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-classical Female 1929 View details
c.739delG g.153296540delC p.Val247fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 1930 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1931 View details
c.299T>G g.153297736A>C p.Leu100Arg Missense MBD Unknown Rett syndrome-classical Female 1932 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1933 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1934 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1935 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 1936 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-classical Female 1937 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1938 View details
c.472A>G g.153296807T>C p.Thr158Ala Missense MBD Unknown Rett syndrome-classical Female 1939 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 1940 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1941 View details
c.482G>T g.153296797C>A p.Gly161Val Missense MBD Unknown Rett syndrome-atypical Female 1942 View details
c.611C>G g.153296668G>C p.Ser204* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-atypical Female 1943 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1944 View details
c.953A>C g.153296326T>G p.Glu318Ala Missense C-term Unknown Rett syndrome-atypical Female 1945 View details
c.298C>G g.153297737G>C p.Leu100Val Missense MBD Unknown Rett syndrome-atypical Female 1946 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1947 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1948 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-atypical Female 1949 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1950 View details
c.755delG g.153296524delC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-atypical Female 1951 View details
c.695delG g.153296584delC p.Gly232fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-atypical Female 1952 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1953 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-atypical Female 1954 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-classical Female 1955 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1956 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 1957 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1958 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-atypical Female 1959 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-atypical Female 1960 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-classical Female 1961 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1962 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1963 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-atypical Female 1964 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 1965 View details
c.-168-?_*?del p.Met1? Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 1980 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Female 1967 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1968 View details
c.567dupA g.153296712dupT p.Arg190fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1969 View details
c.567dupA g.153296712dupT p.Arg190fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Not Known Female 1970 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1972 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1985 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1986 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1989 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1990 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1991 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1994 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1995 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1996 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Rett synd. Female 1998 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1999 View details
c.1135_1142delCCCGTGCC g.153296137_153296144delGGCACGGG p.Pro379fs Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 2000 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 2001 View details
c.[992_994delAGA; 1029delG; 1061G>T; 1167_1200del34] g.[153296285_153296287delTCT;153296250delC;153296218C>A;153296079_153296112del34] p.[Lys331del; Arg344fs] In-frame insertion or deletion, frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2002 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup In-frame insertion or deletion N-term Polymorphism not causing disease Not Known Female 2004 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup In-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 2005 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Known Female 2007 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2008 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 2010 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2011 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 2012 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 2013 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2014 View details
c.910A>G g.153296369T>C p.Lys304Glu Missense TRD Unknown Not Known Female 2015 View details
c.1324A>G g.153295955T>C p.Thr442Ala Missense C-term Unknown Not Known Female 2016 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 2017 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 2018 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 2019 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 2020 View details
c.1155_1200del46 g.153296079_153296124del46 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2021 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 2022 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 2023 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2024 View details
c.[397C>T(;)1061G>T] g.[153296882G>A;153296218C>A] p.[Arg133Cys(;)Arg354Leu] Missense MBD, C-term Mutation associated with disease Not Known Female 2025 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Female 2026 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2027 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 2028 View details
c.[377+22C>G; 378-74C>T] g.[153297636G>C;153296975G>A] intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2029 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 2031 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2032 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Not Known Female 2033 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 2034 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2035 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 2036 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Known Female 2037 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 2038 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Female 2039 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2040 View details
c.[880C>T(;)*9G>A] g.[153296399G>A;153295809C>T] "p.Arg294*, 3'UTR variation" Nonsense, 3'UTR variation TRD, 3'UTR Mutation associated with disease Not Known Female 2041 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 2042 View details
c.843C>T g.153296436G>A p.Ala281Ala Silent TRD Silent polymorphism Not Known Female 2043 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Known Female 2044 View details
c.[377+22C>G(;)378-74C>T] g.[153297636G>C;153296975G>A] intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2045 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 2046 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 2048 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del In-frame insertion or deletion C-term Polymorphism not causing disease Not Known Female 2049 View details
c.1163_1179del17 g.153296100_153296116del17 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2050 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2051 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 2052 View details
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. Female 2053 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2054 View details
c.[1189G>A(;)*55C>G] g.[153296090C>T;153295763G>C] "p.Glu397Lys, 3'UTR variation" Missense, 3'UTR variation C-term, 3'UTR Polymorphism not causing disease Not Known Female 2055 View details
c.378-74C>T g.153296975G>A intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2056 View details
c.378-74C>T g.153296975G>A intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2057 View details
c.479C>G g.153296800G>C p.Thr160Ser Missense MBD Unknown Not Known Female 2058 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Known Female 2059 View details
c.1239C>T g.153296040G>A p.Cys413Cys Silent C-term Silent polymorphism Not Known Female 2061 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2063 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 2064 View details
c.362A>G g.153297673T>C p.Asp121Gly Missense MBD Unknown Not Known Female 2065 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 2066 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 2067 View details
c.464T>G g.153296815A>C p.Phe155Cys Missense MBD Unknown Rett syndrome-Atypical Female 2069 View details
complex rearrangement complex rearrangement Not known Not known Unknown Rett syndrome-Classical Female 2070 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2071 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2072 View details
c.-168-?_26+?del g.153357642_153363130del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2073 View details
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? frameshift insertion or deletion N-term Unknown Rett syndrome-Atypical Female 2074 View details
c.-168-?_26+?del g.153357642_153363130del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-Atypical Female 2075 View details
c.-168-?_26+?del g.153357642_153363130del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2076 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Atypical Female 2077 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2078 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2079 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2080 View details
c.27-?_(378_1461)del p.Arg9fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2081 View details
c.27-?_(378_1461)del p.Arg9fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2082 View details
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 View details
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 View details
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 View details
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 View details
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 View details
[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 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Rett synd. Female 2089 View details
c.481_987del507ins8 p.Gly161fs frameshift combined insertion and deletion MBD Mutation associated with disease Rett syndrome-Classical Female 2090 View details
c.617delG g.153296662delC p.Gly206fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2091 View details
c.695delG g.153296584delC p.Gly232fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2092 View details
c.710delG g.153296569delC p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2093 View details
c.753delC g.153296526delG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2094 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2095 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 2096 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2097 View details
c.1097_1203del107 g.153296076_153296182del107 p.His366fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2098 View details
c.1116_1201del86 g.153296078_153296163del86 p.His372fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2099 View details
c.126dupG g.153297909dupC p.His43fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Atypical Female 2100 View details
c.27-9A>G g.153298017T>C intronic variation Intronic variation Intronic Unknown Rett syndrome-Classical Female 2101 View details
c.378-3C>G g.153296904G>C intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Classical Female 2102 View details
c.654_657delGAAG g.153296622_153296625delCTTC p.Lys219fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2103 View details
c.856_859delAAAG g.153296420_153296423delCTTT p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Atypical Female 2104 View details
c.865A>T g.153296414T>A p.Lys289* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2105 View details
c.1087A>T g.153296192T>A p.Lys363* Nonsense C-term Mutation associated with disease Rett syndrome-Classical Female 2106 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2107 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2108 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2109 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2110 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2111 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2112 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2113 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2114 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2115 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2116 View details
c.1223_1265del43 g.153296014_153296056del43 p.Leu408fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2117 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Known Female 2118 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 2119 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Known Female 2120 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 2121 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Rett syndrome-Atypical Female 2122 View details
c.608C>T g.153296671G>A p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Not Known Female 2123 View details
c.590C>T g.153296689G>A p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Not Known Female 2124 View details
c.1229G>A g.153296050C>T p.Ser410Asn Missense C-term Unknown Rett syndrome-Classical Female 2125 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Known Female 2126 View details
c.815C>T g.153296464G>A p.Pro272Leu Missense TRD Polymorphism not causing disease Rett syndrome-Atypical Female 2127 View details
c.690A>C g.153296589T>G p.Pro230Pro Silent TRD Silent polymorphism Not Known Female 2128 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Female 2130 View details
c.948C>G g.153296331G>C p.Val316Val Silent C-term Silent polymorphism Not Known Female 2131 View details
c.720C>T g.153296559G>A p.Thr240Thr Silent TRD Silent polymorphism Not Known Female 2132 View details
c.633G>C g.153296646C>G p.Arg211Ser Missense TRD Polymorphism not causing disease Rett syndrome-Classical Female 2134 View details
c.585C>T g.153296694G>A p.Gly195Gly Silent Inter-domain region Silent polymorphism Not Known Female 2136 View details
c.386G>T g.153296893C>A p.Gly129Val Missense MBD Unknown Not Known Female 2137 View details
c.277C>T g.153297758G>A p.Pro93Ser Missense MBD Unknown Rett syndrome-Classical Female 2138 View details
c.155A>G g.153297880T>C p.His52Arg Missense N-term Unknown Not Rett synd. Female 2141 View details
c.1372C>T g.153295907G>A p.Arg458Cys Missense C-term Polymorphism not causing disease Not Known Female 2143 View details
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Known Female 2145 View details
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Known Female 2146 View details
c.1234G>A g.153296045C>T p.Val412Ile Missense C-term Polymorphism not causing disease Not Rett synd. Female 2148 View details
c.1215C>T g.153296064G>A p.Pro405Pro Silent C-term Silent polymorphism Not Rett synd. Female 2149 View details
c.1215C>T g.153296064G>A p.Pro405Pro Silent C-term Silent polymorphism Not Rett synd. Female 2150 View details
c.1081C>G g.153296198G>C p.Pro361Ala Missense C-term Unknown Not Known Female 2154 View details
c.1081C>G g.153296198G>C p.Pro361Ala Missense C-term Unknown Not Rett synd. Female 2155 View details
c.1081C>G g.153296198G>C p.Pro361Ala Missense C-term Unknown Not Rett synd. Female 2157 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Not Known Female 2158 View details
c.474G>A g.153296805C>T p.Thr158Thr Silent MBD Silent polymorphism Not Known Female 2160 View details
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 View details
MECP2_e1: c.21_23dup3 MeCP2_e1: p.A8dup In-frame insertion or deletion N-term Unknown Not Known Female 2163 View details
c.1330G>A g.153295949C>T p.Ala444Thr Missense C-term Polymorphism not causing disease Rett syndrome-Atypical Female 2164 View details
c.302C>A g.153297733G>T p.Pro101His Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2167 View details
c.302C>T g.153297733G>A p.Pro101Leu Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2168 View details
c.301C>T g.153297734G>A p.Pro101Ser Missense MBD Unknown Rett syndrome-Atypical Female 2169 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2170 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2171 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2172 View details
c.674C>G g.153296605G>C p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2173 View details
c.905C>T g.153296374G>A p.Pro302Leu Missense TRD Unknown Rett syndrome-Classical Female 2174 View details
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2175 View details
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2176 View details
c.964C>G g.153296315G>C p.Pro322Ala Missense C-term Unknown Rett syndrome-Not certain Female 2177 View details
c.965C>T g.153296314G>A p.Pro322Leu Missense C-term Unknown Rett syndrome-Classical Female 2178 View details
c.1052_1200del149 g.153296079_153296227del149 p.Pro351fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2179 View details
c.1154_1197del44 g.153296082_153296125del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2180 View details
c.1152_1195del44 g.153296084_153296127del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2181 View details
c.1152_1155del4 g.153296124_153296127del4 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2182 View details
c.1162_1179del18 g.153296100_153296117del18 p.Pro388_Pro393del In-frame insertion or deletion C-term Polymorphism not causing disease Rett syndrome-Atypical Female 2183 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2184 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2185 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2186 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2187 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2188 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2189 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2190 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del In-frame insertion or deletion C-term Polymorphism not causing disease Rett syndrome-Not certain Female 2191 View details
c.730C>T g.153296549G>A p.Gln244* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2192 View details
c.730C>T g.153296549G>A p.Gln244* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2193 View details
c.316C>G g.153297719G>C p.Arg106Gly Missense MBD Unknown Rett syndrome-Classical Female 2194 View details
c.316C>G g.153297719G>C p.Arg106Gly Missense MBD Unknown Not Rett synd. Female 2195 View details
c.316C>G g.153297719G>C p.Arg106Gly Missense MBD Unknown Rett syndrome-Atypical Female 2196 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2197 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2198 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2199 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2200 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2201 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2202 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2203 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2204 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2205 View details
c.[316C>T(;)917G>T(;)1061G>A] g.[153297719G>A;153296362C>A;153296218C>T] p.[Arg106Trp(;)Arg306Leu(;)Arg354His] Missense MBD, TRD, C-term Mutation associated with disease Rett syndrome-Not certain Female 2206 View details
c.1061G>A g.153296218C>T p.Arg354His Missense C-term Unknown Not Rett synd. Female 2207 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2208 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2209 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2210 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2211 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2212 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2213 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Rett synd. Female 2214 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2215 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2216 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2217 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2218 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2219 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2221 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2222 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2223 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2224 View details
c.[397C>T; 1164_1207del44] g.[153296882G>A;153296072_153296115del44] p.[Arg133Cys; Pro389*] Missense, frameshift insertion or deletion MBD, C-term Mutation associated with disease Rett syndrome-Atypical Female 2225 View details
c.398G>A g.153296881C>T p.Arg133His Missense MBD Unknown Rett syndrome-Classical Female 2226 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2227 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2228 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2229 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 2230 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2231 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 2232 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2233 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2234 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2235 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2236 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2237 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2238 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2239 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2240 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2241 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2242 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2243 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2244 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2245 View details
c.[502C>T(;)897C>T] g.[153296777G>A;153296382G>A] p.[Arg168*(;)Thr299Thr] Nonsense, silent Inter-domain region, TRD Mutation associated with disease Rett syndrome-Classical Female 2246 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2247 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2248 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2249 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2250 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2251 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2252 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2253 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2254 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2255 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2256 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2257 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2258 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2259 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2260 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2261 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2262 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2263 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2264 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2265 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2266 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2267 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2268 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2269 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2270 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2271 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2272 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2273 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2274 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2275 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2276 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2277 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2278 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2279 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2280 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2281 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2282 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2283 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 2284 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2285 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2286 View details
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2287 View details
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2288 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2289 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2290 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2291 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2292 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 2293 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 2294 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2295 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2296 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 2297 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2298 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 2299 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2300 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2301 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2302 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2303 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2304 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2305 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 2306 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2307 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2308 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 2309 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2310 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2311 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2312 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 2313 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2314 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2315 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2316 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2317 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2318 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2319 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2320 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 2321 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2322 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2323 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2324 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 2325 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2326 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2327 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 2328 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2329 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 2330 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2331 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2332 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2333 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2334 View details
c.994_1346del353 g.153295933_153296285del353 p.Ser332fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2335 View details
c.994_998delAGCGG g.153296281_153296285delCCGCT p.Ser332fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2336 View details
Not known p.Ser373* Nonsense C-term Mutation associated with disease Rett syndrome-Atypical Female 2337 View details
c.146C>A g.153297889G>T p.Ser49* Nonsense N-term Mutation associated with disease Rett syndrome-Atypical Female 2338 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2339 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2340 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2341 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 2342 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 2343 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2345 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 2346 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2347 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2348 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2349 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2350 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 2351 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2352 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2353 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 2354 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2355 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2356 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2357 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2358 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2359 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2360 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2361 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2362 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2363 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2364 View details
c.91delG g.153297944delC p.Val31* Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2365 View details
c.311_323del13 g.153297712_153297724del13 p.Trp104fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Atypical Female 2366 View details
c.311G>A g.153297724C>T p.Trp104* Nonsense MBD Mutation associated with disease Rett syndrome-Classical Female 2367 View details
c.587C>G g.153296692G>C p.Thr196Ser Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Female 2368 View details
c.1127C>G g.153296152G>C p.Pro376Arg Missense C-term Unknown Not Rett synd. Female 2369 View details
c.*177G>C g.153295641C>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Female 2371 View details
c.*177G>C g.153295641C>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Female 2372 View details
c.*5348T>C g.153290470A>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Female 2374 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Rett synd. Female 2376 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Not Rett synd. Female 2377 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Female 2379 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 2384 View details
c.1357C>T g.153295922G>A p.Arg453* Nonsense C-term Mutation associated with disease Rett syndrome-Preserved speech Female 2388 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 2389 View details
c.[1202G>A];[1202G>A] p.[Ser401Asn];[Ser401Asn] Missense C-term Polymorphism not causing disease Not Rett synd. Female 2390 View details
c.1202G>A g.153296077C>T p.Ser401Asn Missense C-term Polymorphism not causing disease Not Rett synd. Female 2392 View details
c.1202G>A g.153296077C>T p.Ser401Asn Missense C-term Polymorphism not causing disease Not Rett synd. Female 2393 View details
c.1202G>A g.153296077C>T p.Ser401Asn Missense C-term Polymorphism not causing disease Not Rett synd. Female 2394 View details
c.720C>G g.153296559G>C p.Thr240Thr Silent TRD Silent polymorphism Not Rett synd. Female 2395 View details
c.720C>G g.153296559G>C p.Thr240Thr Silent TRD Silent polymorphism Not Rett synd. Female 2396 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2397 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2398 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2399 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2400 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Congenital onset Female 2401 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2402 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2403 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Preserved speech Female 2404 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2405 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Congenital onset Female 2406 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 2407 View details
c.914A>G g.153296365T>C p.Lys305Arg Missense TRD Unknown Rett syndrome-Classical Female 2408 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2409 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2410 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2411 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2412 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Preserved speech Female 2413 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2414 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Forme fruste Female 2415 View details
c.423C>G g.153296856G>C p.Tyr141* Nonsense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 2416 View details
c.1197C>T g.153296082G>A p.Pro399Pro Silent C-term Silent polymorphism Rett syndrome-Classical Female 2417 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Congenital onset Female 2418 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Forme fruste Female 2419 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2420 View details
c.666C>G g.153296613G>C p.Val222Val Silent TRD Silent polymorphism Rett syndrome-Preserved speech Female 2421 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Preserved speech Female 2422 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2423 View details
c.965C>T g.153296314G>A p.Pro322Leu Missense C-term Unknown Rett syndrome-Classical Female 2424 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2425 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Congenital onset Female 2426 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2427 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2428 View details
c.674C>T g.153296605G>A p.Pro225Leu Missense TRD Unknown Rett syndrome-Classical Female 2429 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2430 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2431 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2432 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2433 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2434 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2435 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2436 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2437 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2438 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2439 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2440 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2441 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2442 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Congenital onset Female 2443 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2444 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2445 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2446 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 2447 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2448 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2449 View details
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2450 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2451 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2452 View details
c.[763C>T(;)1233C>T] g.[153296516G>A;153296046G>A] p.[Arg255*(;)Ser411Ser] Nonsense, silent TRD, C-term Mutation associated with disease Rett syndrome-Classical Female 2453 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2454 View details
c.[502C>T(;)750C>A] g.[153296777G>A;153296529G>T] p.[Arg168*(;)Arg250Arg] Nonsense, silent Inter-domain region, TRD Mutation associated with disease Rett syndrome-Classical Female 2455 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2456 View details
c.380C>T g.153296899G>A p.Pro127Leu Missense MBD Unknown Rett syndrome-Classical Female 2457 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Congenital onset Female 2458 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2459 View details
c.[710G>T(;)763C>T] g.[153296569C>A;153296516G>A] p.[Gly237Val(;)Arg255*] missense, nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2460 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Congenital onset Female 2461 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2462 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2463 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2464 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2465 View details
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2466 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2467 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2468 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2469 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 2470 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2471 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2472 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2473 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Preserved speech Female 2474 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2475 View details
c.1163C>T g.153296116G>A p.Pro388Leu Missense C-term Unknown Rett syndrome-Forme fruste Female 2476 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Forme fruste Female 2477 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Congenital onset Female 2478 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2479 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2480 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2481 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2482 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2483 View details
c.317G>T g.153297718C>A p.Arg106Leu Missense MBD Unknown Rett syndrome-Classical Female 2484 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Congenital onset Female 2485 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2486 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2487 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2488 View details
c.674C>G g.153296605G>C p.Pro225Arg Missense TRD Mutation associated with disease Not Known Female 2489 View details
c.1216C>T g.153296063G>A p.Gln406* Nonsense C-term Mutation associated with disease Not Rett synd. Female 2490 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Rett synd. Female 2491 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 2493 View details
c.*36G>C g.153295782C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 2494 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 2495 View details
MECP2_e1: c.30delCinsGA MeCP2_e1: p.S10fs frameshift combined insertion and deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2497 View details
c.-168-?_26+?del g.153357642_153363130del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2498 View details
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 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Atypical Female 2500 View details
c.856_859delAAAG g.153296420_153296423delCTTT p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2501 View details
c.426C>T g.153296853G>A p.Phe142Phe Silent MBD Silent polymorphism Not Rett synd. Female 2505 View details
c.426C>T g.153296853G>A p.Phe142Phe Silent MBD Silent polymorphism Not Rett synd. Female 2506 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 2517 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 2518 View details
c.422A>G g.153296857T>C p.Tyr141Cys Missense MBD Unknown Rett syndrome-Atypical Female 2519 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Rett synd. Female 2521 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Female 2522 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Female 2523 View details
c.1206C>T g.153296073G>A p.Pro402Pro Silent C-term Silent polymorphism Not Rett synd. Female 2524 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 2527 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 2528 View details
c.964C>T g.153296315G>A p.Pro322Ser Missense C-term Unknown Not Rett synd. Female 2530 View details
c.27-12521_*5072del19784 g.153290746_153310529del19784 p.Arg9fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2531 View details
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 View details
c.1023_*14472del14911 g.153281346_153296256del14911 p.Ser341fs In-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2533 View details
c.-168-?_26+?del g.153357642_153363130del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2534 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2535 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2536 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2537 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 2539 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 2540 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 2541 View details
c.651_652delTG g.153296627_153296628delCA p.Gly218fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 2542 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 2543 View details
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 View details
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 View details
c.1284C>T g.153295995G>A p.Gly428Gly silent C-term Silent polymorphism Rett syndrome-classical Female 3816 View details
MECP2_e1: c.-46_-45delGC 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd. Female 2551 View details
MECP2_e1: c.-27_-26delAG 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd. Female 2552 View details
MECP2_e1: c.-27_-26delinsTT 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd. Female 2553 View details
MECP2_e1: c.15_23dup9 MeCP2_e1: p.A6_A8dup in-frame insertion or deletion N-term Unknown Not Rett synd. Female 2554 View details
MECP2_e1: c.15_23dup9 MeCP2_e1: p.A6_A8dup in-frame insertion or deletion N-term Unknown Not Rett synd. Female 2555 View details
MECP2_e1: c.18_23del6 MeCP2_e1: p.A7_A8del in-frame insertion or deletion N-term Unknown Not Rett synd. Female 2556 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 2557 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 2558 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 2559 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 2560 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 2561 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 2562 View details
MECP2_e1: c.49G>A MeCP2_e1: p.E17K missense N-term Unknown Not Rett synd. Female 2563 View details
c.189_190delGA g.153297845_153297846delTC p.Glu63fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2564 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Classical Female 2565 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Classical Female 2566 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Classical Female 2567 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Classical Female 2568 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Classical Female 2569 View details
c.323T>A g.153297712A>T p.Leu108His missense MBD Unknown Rett syndrome-Classical Female 2570 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2571 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2572 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2573 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2574 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2575 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2576 View details
c.401C>G g.153296878G>C p.Ser134Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2577 View details
c.403A>G g.153296876T>C p.Lys135Glu missense MBD Unknown Rett syndrome-Classical Female 2578 View details
c.423C>G g.153296856G>C p.Tyr141* nonsense MBD Mutation associated with disease Rett syndrome-Classical Female 2579 View details
c.430A>T g.153296849T>A p.Lys144* nonsense MBD Mutation associated with disease Rett syndrome-Classical Female 2580 View details
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-Classical Female 2581 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2582 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2583 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2584 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2585 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2586 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2587 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2588 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2589 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2590 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2591 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2592 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2593 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2594 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2595 View details
c.611C>G g.153296668G>C p.Ser204* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2596 View details
c.674C>G g.153296605G>C p.Pro225Arg missense TRD Mutation associated with disease Rett syndrome-Classical Female 2597 View details
c.753dupC g.153296526dupG p.Gly252fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2598 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2599 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2600 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2601 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2602 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2603 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2604 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2605 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2606 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2607 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2608 View details
c.816_832del17 g.153296447_153296463del17 p.Gly273fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2609 View details
c.856_859delAAAG g.153296420_153296423delCTTT p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2610 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2611 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2612 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2613 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2614 View details
c.904C>T g.153296375G>A p.Pro302Ser missense TRD Unknown Rett syndrome-Classical Female 2615 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 2616 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 2617 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 2618 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 2619 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 2620 View details
c.[1063_1188del126; 1189_1231inv; 1232_1236del5] g.[153296091_153296216del126;153296048_153296090inv;153296043_153296047del5] p.Ser355fs frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2621 View details
c.1069_1071delAGC g.153296208_153296210delGCT p.Ser357del in-frame insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2622 View details
c.1116_1201del86 g.153296078_153296163del86 p.His372fs frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2623 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2624 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2625 View details
c.1162C>T g.153296117G>A p.Pro388Ser missense c-term Unknown Rett syndrome-Classical Female 2626 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2627 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2628 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2629 View details
c.377+22C>G g.153297636G>C intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 2630 View details
c.377+22C>G g.153297636G>C intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 2631 View details
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Rett syndrome-Classical Female 2632 View details
c.686C>T g.153296593G>A p.Ser229Leu missense TRD Polymorphism not causing disease Rett syndrome-Classical Female 2633 View details
c.815C>T g.153296464G>A p.Pro272Leu missense TRD Polymorphism not causing disease Rett syndrome-Classical Female 2634 View details
c.819G>T g.153296460C>A p.Gly273Gly silent TRD Silent polymorphism Rett syndrome-Classical Female 2635 View details
c.1161C>T g.153296118G>A p.Pro387Pro silent C-term Silent polymorphism Rett syndrome-Classical Female 2636 View details
c.1335G>A g.153295944C>T p.Thr445Thr silent c-term Silent polymorphism Rett syndrome-Classical Female 2637 View details
c.*92C>T g.153295726G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 2638 View details
c.*328G>A g.153295490C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 2639 View details
c.*328G>A g.153295490C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 2640 View details
c.*359G>C g.153295459C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 2641 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 2642 View details
c.*363G>C g.153295455C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 2643 View details
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 View details
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 View details
c.289G>T g.153297746C>A p.Asp97Tyr missense MBD Unknown Rett syndrome-not certain Female 2646 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-preserved speech Female 2647 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 2648 View details
c.1162_1163delinsTA g.153296116_153296117delinsTA p.Pro388* frameshift combined insertion and deletion C-term Mutation associated with disease Not Rett synd. Female 2659 View details
c.679C>G g.153296600G>C p.Gln227Glu missense TRD Unknown Not Rett synd. Female 2660 View details
c.*2706G>A g.153293112C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Female 2708 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 3915 View details
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 View details
MECP2_e1: c.62+2_62+3delTG intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 2757 View details
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 View details
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? large deletion N-term Mutation associated with disease Rett syndrome-classical Female 2759 View details
c.-168-?_26+?del g.153357642_153363130del p.Met1? large deletion N-term Mutation associated with disease Rett syndrome-classical Female 2760 View details
c.-168-?_26+?del g.153357642_153363130del p.Met1? large deletion N-term Mutation associated with disease Rett syndrome-classical Female 2761 View details
c.-168-?_*?del p.Met1? large deletion N-term Mutation associated with disease Rett syndrome-classical Female 2762 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 2769 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 2770 View details
c.547G>C g.153296732C>G p.Gly183Arg missense inter-domain region Polymorphism not causing disease Not Rett synd. Female 2771 View details
c.582C>T g.153296697G>A p.Ser194Ser silent inter-domain region Silent polymorphism Not Rett synd. Female 2772 View details
c.948C>G g.153296331G>C p.Val316Val silent C-term Silent polymorphism Not Rett synd. Female 2773 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Female 2774 View details
c.1206C>T g.153296073G>A p.Pro402Pro silent C-term Silent polymorphism Not Rett synd. Female 2775 View details
c.1266C>T g.153296013G>A p.Gly422Gly silent C-term Silent polymorphism Not Rett synd. Female 2776 View details
c.1315G>A g.153295964C>T p.Ala439Thr missense C-term Unknown Not Rett synd. Female 2777 View details
c.1330G>A g.153295949C>T p.Ala444Thr missense C-term Polymorphism not causing disease Not Rett synd. Female 2778 View details
c.1335G>A g.153295944C>T p.Thr445Thr silent C-term Silent polymorphism Not Rett synd. Female 2779 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 2780 View details
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 View details
c.27-?_1337+?del g.153295942_153298008del p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2782 View details
c.-168-?_26+?del g.153357642_153363130del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 2783 View details
c.27-?_1337+?del g.153295942_153298008del p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2784 View details
c.27-?_1185+?del g.153296094_153298008del p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2785 View details
c.378-?_1337+?del g.153295942_153296901del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-classical Female 2786 View details
c.27-?_1337+?del g.153295942_153298008del p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2787 View details
c.378-?_1185+?del g.153296094_153296901del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-classical Female 2788 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 2789 View details
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 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 2791 View details
c.378-?_1337+?del g.153295942_153296901del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-classical Female 2792 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 2797 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 2798 View details
MECP2_e1: c.62+2_62+3delTG intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 2800 View details
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 View details
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 View details
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 View details
c.298C>G g.153297737G>C p.Leu100Val missense MBD Unknown Rett syndrome-classical Female 2804 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2805 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2806 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2807 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2808 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2809 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2810 View details
c.[26+22C>G(;)468C>G] g.[153357620G>C;153296811G>C] "intronic variation, p.Asp156Glu" missense MBD Unknown Rett syndrome-classical Female 2811 View details
c.482G>A g.153296797C>T p.Gly161Glu missense MBD Unknown Rett syndrome-classical Female 2812 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-classical Female 2813 View details
c.[426C>T(;)916C>T] g.[153296853G>A;153296363G>A] p.[Phe142Phe(;)Arg306Cys] silent, missense MBD, TRD Mutation associated with disease Rett syndrome-classical Female 2814 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2815 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2816 View details
c.932C>T g.153296347G>A p.Thr311Met missense C-term Unknown Rett syndrome-classical Female 2817 View details
c.965C>T g.153296314G>A p.Pro322Leu missense C-term Unknown Rett syndrome-classical Female 2818 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2819 View details
c.[502C>T(;)1326C>T] g.[153296777G>A;153295953G>A] p.[Arg168*(;)Thr442Thr] nonsense, silent inter-domain region, C-term Mutation associated with disease Rett syndrome-classical Female 2820 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2821 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2822 View details
c.[26+22C>G(;) 808C>T] g.[153357620G>C;153296471G>A] p.Arg270* intronic variation, nonsense intronic, TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2823 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2824 View details
c.[808C>T(;) 1326C>T] g.[153296471G>A;153295953G>A] p.[Arg270*(;) Thr442Thr] nonsense, silent TRD-NLS, C-term Mutation associated with disease Rett syndrome-classical Female 2825 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2826 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2827 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2828 View details
c.1154_1197del44 g.153296082_153296125del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 2829 View details
c.1326C>T g.153295953G>A p.Thr442Thr silent C-term Silent polymorphism Rett syndrome-classical Female 2830 View details
c.[26+22C>G(;) 808C>T] g.[153357620G>C;153296471G>A] p.Arg270* intronic variation, nonsense intronic variation, TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2831 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2852 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2853 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2854 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2855 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2856 View details
c.1162C>T g.153296117G>A p.Pro388Ser missense C-term Unknown Rett syndrome-congenital onset Female 2857 View details
c.1126C>T g.153296153G>A p.Pro376Ser missense C-term Polymorphism not causing disease Rett syndrome-classical Female 2858 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2859 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2860 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2861 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-preserved speech Female 2862 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-preserved speech Female 2863 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2864 View details
c.36G>C g.153297999C>G p.Lys12Asn missense N-term Polymorphism not causing disease Rett syndrome-not certain Female 2865 View details
c.28G>C g.153298007C>G p.Glu10Gln missense N-term Unknown Rett syndrome-forme fruste Female 2866 View details
c.383A>C g.153296896T>G p.Gln128Pro missense MBD Unknown Rett syndrome-late regression Female 2867 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-forme fruste Female 2868 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-forme fruste Female 2869 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-forme fruste Female 2870 View details
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 2871 View details
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 2872 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-forme fruste Female 2873 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2874 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-forme fruste Female 2875 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2876 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2877 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2878 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2879 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2880 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2881 View details
c.830delC g.153296449delG p.Ala277fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 2882 View details
c.1164_1208del45 g.153296071_153296115del45 p.Pro389_Pro403del in-frame insertion or deletion C-term Unknown Rett syndrome-congenital onset Female 2883 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-preserved speech Female 2884 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-forme fruste Female 2885 View details
c.1151_1191del41 g.153296088_153296128del41 p.Pro384fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-preserved speech Female 2886 View details
c.734_759del26 g.153296520_153296545del26 p.Val245fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 2887 View details
c.756_763dup g.153296516_153296523dup p.Arg255fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 2888 View details
c.799A>T g.153296480T>A p.Lys267* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2889 View details
c.898_901del g.153296378_153296381del p.Val300fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 2890 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del in-frame insertion or deletion C-term Polymorphism not causing disease Rett syndrome-atypical Female 2891 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2892 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2893 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2894 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2895 View details
c.710dupG g.153296569dupC p.Gly238fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 2896 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2897 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2898 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2899 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2900 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2901 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2902 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2903 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 2904 View details
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 View details
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 View details
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 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 2908 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 2909 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 2910 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Rett synd. Female 2911 View details
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 View details
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Rett syndrome-classcial Female 2913 View details
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Rett syndrome-atypical Female 2914 View details
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Rett syndrome-atypical Female 2915 View details
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 View details
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 View details
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 View details
c.215dupC g.153297820dupG p.Ala73fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2930 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2931 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2932 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2933 View details
c.403A>G g.153296876T>C p.Lys135Glu missense MBD Unknown Rett syndrome-classical Female 2934 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2935 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2936 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2937 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2938 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2939 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2940 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2941 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2942 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2943 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2944 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2945 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2946 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2947 View details
c.964C>G g.153296315G>C p.Pro322Ala missense C-term Unknown Rett syndrome-classical Female 2948 View details
c.1057_1219del163 g.153296060_153296222del163 p.Gly353fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 2949 View details
c.1154_1197del44 g.153296082_153296125del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 2950 View details
c.1162_1191del30 g.153296088_153296117del30 p.Pro388_Glu397del in-frame insertion or deletion C-term Unknown Rett syndrome-classical Female 2951 View details
c.1160_1180del21 g.153296099_153296119del21 p.Pro387_Glu394delinsGln in-frame insertion or deletion C-term Unknown Rett syndrome-classical Female 2952 View details
c.1194_1195insT g.153296084_153296085insA p.Pro399fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 2953 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-atypical Female 2954 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-atypical Female 2955 View details
c.422A>G g.153296857T>C p.Tyr141Cys missense MBD Unknown Rett syndrome-atypical Female 2956 View details
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-atypical Female 2957 View details
c.452A>G g.153296827T>C p.Asp151Gly missense MBD Unknown Rett syndrome-atypical Female 2958 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-atypical Female 2959 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-atypical Female 2960 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-atypical Female 2961 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-atypical Female 2962 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-atypical Female 2963 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-atypical Female 2964 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 2965 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 2966 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 2967 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-atypical Female 2968 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-atypical Female 2969 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 2970 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 2971 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 2972 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 2973 View details
c.27-2A>G g.153298010T>C intronic variation intronic variation N-term Mutation associated with disease Rett syndrome-atypical Female 2974 View details
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 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Not Rett synd. Female 2976 View details
c.909C>G g.153296370G>C p.Ile303Met missense TRD Unknown Not Rett synd. Female 2977 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2978 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2979 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2980 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2981 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2982 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2983 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2984 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2985 View details
c.401C>T g.153296878G>A p.Ser134Phe missense MBD Unknown Rett syndrome-classical Female 2986 View details
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 2987 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2988 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2989 View details
c.836C>T g.153296443G>A p.Ala279Val missense TRD Unknown Rett syndrome-classical Female 2990 View details
c.836C>T g.153296443G>A p.Ala279Val missense TRD Unknown Rett syndrome-classical Female 2991 View details
c.836C>T g.153296443G>A p.Ala279Val missense TRD Unknown Rett syndrome-classical Female 2992 View details
c.[834C>T(;) 965C>T] g.[153296445G>A;153296314G>A] p.[Ala278Ala(;) Pro322Leu] silent, missense TRD, C-term Unknown Rett syndrome-classical Female 2993 View details
c.753C>T g.153296526G>A p.Pro251Pro silent TRD Silent polymorphism Rett syndrome-classical Female 2994 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2995 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2996 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2997 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2998 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2999 View details
c.674C>G g.153296605G>C p.Pro225Arg missense TRD Mutation associated with disease Rett syndrome-classical Female 3000 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3001 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3002 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3003 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3004 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3005 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3006 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3007 View details
c.874_875insA g.153296404_153296405insT p.Ser292fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 3008 View details
c.1154_1197del44 g.153296082_153296125del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3009 View details
c.[1158_1167del10; 1173_1188del16] g.[153296112_153296121del10;153296091_153296106del16] p.Pro387Hisfs*9 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3010 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3011 View details
c.1141C>G g.153296138G>C p.Pro381Ala missense C-term Polymorphism not causing disease Rett syndrome-classical Female 3012 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3013 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3014 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3015 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3016 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3017 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3018 View details
c.140dupA g.153297895dupT p.Pro48fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 3035 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 3036 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 3037 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3038 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3039 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3040 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3041 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3042 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3043 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3044 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3045 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3046 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3047 View details
c.[1451G>C];[*98dupA] p.[Arg484Thr];[=] missense, 3'UTR C-term, 3'UTR Polymorphism not causing disease Rett syndrome-classical Female 3048 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-classical Female 3049 View details
c.423C>G g.153296856G>C p.Tyr141* nonsense MBD Mutation associated with disease Rett syndrome-not certain Female 3050 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3051 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3052 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3053 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3054 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3055 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3056 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3057 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3058 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3059 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3060 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3061 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3062 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3063 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3064 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3065 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3066 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3067 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3068 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3069 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3070 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3071 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3072 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3073 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3074 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3075 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3076 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 3077 View details
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 3078 View details
c.401C>G g.153296878G>C p.Ser134Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3079 View details
c.904C>G g.153296375G>C p.Pro302Ala missense TRD Unknown Rett syndrome-not certain Female 3080 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-not certain Female 3081 View details
c.[=/473C>T];[473C>T] p.[=/Thr158Met];[Thr158Met] missense MBD Mutation associated with disease Rett syndrome-classical Female 3082 View details
c.291C>A g.153297744G>T p.Asp97Glu missense MBD Unknown Rett syndrome-not certain Female 3083 View details
c.317G>A g.153297718C>T p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-not certain Female 3084 View details
c.317G>A g.153297718C>T p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-not certain Female 3085 View details
c.317G>A g.153297718C>T p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-not certain Female 3086 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3087 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3088 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3089 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3090 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3091 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3092 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3093 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3094 View details
c.316C>G g.153297719G>C p.Arg106Gly missense MBD Unknown Rett syndrome-not certain Female 3095 View details
c.380C>T g.153296899G>A p.Pro127Leu missense MBD Unknown Rett syndrome-not certain Female 3096 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3097 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3098 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3099 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3100 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3101 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3102 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3103 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3104 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3105 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3106 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3107 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3108 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3109 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3110 View details
c.398G>A g.153296881C>T p.Arg133His missense MBD Unknown Rett syndrome-not certain Female 3111 View details
c.403A>G g.153296876T>C p.Lys135Glu missense MBD Unknown Rett syndrome-not certain Female 3112 View details
c.422A>G g.153296857T>C p.Tyr141Cys missense MBD Unknown Rett syndrome-not certain Female 3113 View details
c.422A>G g.153296857T>C p.Tyr141Cys missense MBD Unknown Rett syndrome-not certain Female 3114 View details
c.422A>G g.153296857T>C p.Tyr141Cys missense MBD Unknown Rett syndrome-not certain Female 3115 View details
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 3116 View details
c.468C>G g.153296811G>C p.Asp156Glu missense MBD Unknown Rett syndrome-not certain Female 3117 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3118 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3119 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3120 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3121 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3122 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3123 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3124 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3125 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3126 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3127 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3128 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3129 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3130 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3131 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3132 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3133 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3134 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3135 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3136 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3137 View details
c.674C>G g.153296605G>C p.Pro225Arg missense TRD Mutation associated with disease Rett syndrome-not certain Female 3138 View details
c.674C>G g.153296605G>C p.Pro225Arg missense TRD Mutation associated with disease Rett syndrome-not certain Female 3139 View details
c.904C>G g.153296375G>C p.Pro302Ala missense TRD Unknown Rett syndrome-not certain Female 3140 View details
c.908T>G g.153296371A>C p.Ile303Ser missense TRD Unknown Rett syndrome-not certain Female 3141 View details
c.910A>G g.153296369T>C p.Lys304Glu missense TRD Unknown Rett syndrome-not certain Female 3142 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3143 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3144 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3145 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3146 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3147 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3148 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3149 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3150 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3151 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3152 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3153 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3154 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3155 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3156 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3157 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3158 View details
c.917G>A g.153296362C>T p.Arg306His missense TRD Mutation associated with disease Rett syndrome-not certain Female 3159 View details
c.917G>A g.153296362C>T p.Arg306His missense TRD Mutation associated with disease Rett syndrome-not certain Female 3160 View details
c.917G>A g.153296362C>T p.Arg306His missense TRD Mutation associated with disease Rett syndrome-not certain Female 3161 View details
c.917G>A g.153296362C>T p.Arg306His missense TRD Mutation associated with disease Rett syndrome-not certain Female 3162 View details
c.964C>G g.153296315G>C p.Pro322Ala missense C-term Unknown Rett syndrome-not certain Female 3163 View details
c.964C>G g.153296315G>C p.Pro322Ala missense C-term Unknown Rett syndrome-not certain Female 3164 View details
c.965C>T g.153296314G>A p.Pro322Leu missense C-term Unknown Rett syndrome-not certain Female 3165 View details
c.982C>G g.153296297G>C p.Leu328Val missense C-term Unknown Rett syndrome-not certain Female 3166 View details
c.1133C>T g.153296146G>A p.Ala378Val missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 3167 View details
c.28G>T g.153298007C>A p.Glu10* nonsense N-term Mutation associated with disease Rett syndrome-not certain Female 3168 View details
c.382C>T g.153296897G>A p.Gln128* nonsense MBD Mutation associated with disease Rett syndrome-not certain Female 3169 View details
c.413T>A g.153296866A>T p.Leu138* nonsense MBD Mutation associated with disease Rett syndrome-not certain Female 3170 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3171 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3172 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3173 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3174 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3175 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3176 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3177 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3178 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3179 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3180