MECP2 Variant List



Nucleotide change Genomic name Amino acid change Type of sequence change Domain change Pathogenicity Phenotype Gender Frequency View record
MECP2_e1:c.-235G>T Missense 5'UTR Polymorphism not causing disease Not Rett synd. Female 1 View details
c.-168-?_26+?del g.153357642_153363130del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-Not certain Female 14 View details
c.-168-?_*?del p.Met1? Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Male 17 View details
c.-168-?_26+?del (deletion exons 1 and 2) p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-congenital Female 1 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 1 View details
MECP2_e1: c.-46_-45delGC 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd. Female 1 View details
MECP2_e1: c.-27_-26delAG 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd. Female 1 View details
MECP2_e1: c.-27_-26delinsTT 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd. Female 1 View details
c.-15C>T g.153357682G>A 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd. Female 2 View details
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? frameshift insertion or deletion N-term Unknown Rett syndrome-Not certain Female 6 View details
uncertain p.Ile314Ile Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1 View details
c.[1038_1119del82; 1169_1339del171ins137] p.Ser346fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1 View details
c.*487G>C g.153295331C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 1 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 1 View details
c.[880C>T];[1326C>T] p.[Arg294*];[Thr442Thr] Nonsense, silent TRD, C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1 View details
c.[502C>T];[695G>C] p.[Arg168*];[Gly232Ala] Nonsense, missense Inter-domain region, TRD Mutation associated with disease Rett syndrome-Not certain Unknown 3 View details
c.[752C>T];[1038_1191del154] p.[Pro251Leu];[Ser346fs] Missense, frameshift insertion or deletion TRD, C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1 View details
not certain p.Leu386fs Not known C-term Mutation associated with disease Rett syndrome-Classical Female 6 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 1 View details
c.*93G>A g.153295725C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4 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 1 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 1 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 1 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 1 View details
c.[473C>T];[1189G>A] p.[Thr158Met];[Glu397Lys] Missense MBD, C-term Mutation associated with disease Rett syndrome-Atypical Female 1 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 1 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 1 View details
c.*8C>T g.153295810G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 2 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 1 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 1 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 1 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 1 View details
c.[1053_1054ins10; 1145_1199del55] p.Lys352fs in-frame combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1 View details
c.[1103_1172del; 1185_1191del] g.[153296107_153296176del;153296088_153296094del] p.His368fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1 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 1 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 1 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 1 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 1 View details
c.[=/398G>A] p.[=/Arg133His] Missense MBD Unknown Rett syndrome-Male variant Male 1 View details
c.[=/167_168delCC] p.[=/Pro56fs] Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Unknown 1 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 1 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 1 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 1 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 19 View details
c.[423C>G];[=] p.[Tyr141*];[=] Nonsense MBD Mutation associated with disease Rett syndrome-Male variant Male 1 View details
c.[881_1169del289; 1189_1196del8] g.[153296110_153296398del289;153296083_153296090del8] p.Arg294_Asp398delinsHisLeuSerProArgAla In-frame insertion or deletion, frameshift insertion or deletion TRD, C-term Mutation associated with disease Rett syndrome-classical Unknown 1 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 3 View details
c.[1126C>T];[1126C>T] p.[Pro376Ser];[Pro376Ser] Missense C-term Polymorphism not causing disease Not Rett synd. Female 1 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 1 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 1 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 1 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 1 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Not certain Female 23 View details
c.*122delT g.153295696delA 3'UTR variation 3'UTR variation 3'UTR Unknown Rett syndrome-Not certain Female 1 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 1 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 1 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 1 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 1 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 1 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 1 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 1 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 1 View details
complex rearrangement complex rearrangement Not known Not known Unknown Rett syndrome-Classical Female 1 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 6 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 1 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 1 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 1 View details
Not known p.Ser373* Nonsense C-term Mutation associated with disease Rett syndrome-Atypical Female 1 View details
c.*177G>C g.153295641C>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Female 2 View details
c.*5348T>C g.153290470A>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2 View details
c.[1202G>A];[1202G>A] p.[Ser401Asn];[Ser401Asn] Missense C-term Polymorphism not causing disease Not Rett synd. Female 1 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 1 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 1 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 1 View details
c.*36G>C g.153295782C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 1 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 1 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 1 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 1 View details
c.*92C>T g.153295726G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 2 View details
c.*328G>A g.153295490C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 4 View details
c.*359G>C g.153295459C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 1 View details
c.*363G>C g.153295455C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 1 View details
c.*204G>A g.153295614C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 1 View details
c.*371G>C g.153295447C>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 1 View details
c.*544G>A g.153295274C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Unknown 1 View details
c.*554G>A g.153295264C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 1 View details
c.*767G>T g.153295051C>A 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Unknown 1 View details
c.*861T>G g.153294957A>C 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 1 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 23 View details
c.*1368C>A g.153294450G>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 1 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 13 View details
c.*2556T>A g.153293262A>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 1 View details
c.*2657G>A g.153293161C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Unknown 1 View details
c.*2706G>A g.153293112C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Female 1 View details
c.*2956G>A g.153292862C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 1 View details
c.*3477G>A g.153292341C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 5 View details
c.*3658C>T g.153292160G>A 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Unknown 1 View details
c.*3878G>C g.153291940C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2 View details
c.*4576A>C g.153291242T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 3 View details
c.*5486_*5487dupAT g.153290331_153290332dupAT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2 View details
c.*7748C>T g.153288070G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 18 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 11 View details
c.*393G>A g.153295425C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 1 View details
c.*489G>C g.153295329C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 1 View details
c.*529G>T g.153295289C>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 1 View details
c.*806G>A g.153295012C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 1 View details
c.*831G>C g.153294987C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 1 View details
c.*875dupA g.153294943dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 1 View details
c.*1237T>C g.153294581A>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 1 View details
c.*3662A>G g.153292156T>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 1 View details
c.*4086_*4087delGT g.153291731_153291732delAC 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 1 View details
c.*5839C>T g.153289979G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 1 View details
c.[26+22C>G(;)468C>G] g.[153357620G>C;153296811G>C] "intronic variation, p.Asp156Glu" missense MBD Unknown Rett syndrome-classical Female 1 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 1 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 1 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 2 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 1 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 1 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 1 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 1 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 1 View details
c.[1451G>C];[*98dupA] p.[Arg484Thr];[=] missense, 3'UTR C-term, 3'UTR Polymorphism not causing disease Rett syndrome-classical Female 1 View details
c.[=/473C>T];[473C>T] p.[=/Thr158Met];[Thr158Met] missense MBD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.[1105_1116del12; 1152_1195del44] g.[153296163_153296174del12;153296084_153296127del44] p.[His369_His372del; Pro385fs] frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.[1159_1174del16; 1205_1432del228] g.[153296105_153296120del16;153295847_153296074del228] p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.[1197_1237inv; 1238_1266del] g.[153296042_153296082inv;153296013_153296041del] p.Thr400fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.[1317_*623delins22; *796_*822del] p.Ala439fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.[1004_1037del; 1051_1054del; 1059_1072del; 1161_*2598del] g.[153296242_153296275del;153296225_153296228del;153296207_153296220del;153293220_153296118del] p.Gly335fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.[945_1025conNM_004992.3:c.1196_1252; 1136_*8554+2526del] p.Val316fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.[27-5862_1132del; 1157_1197del] g.[153296147_153303870del;153296082_153296122del] p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.[27-5944_1132del; 1157_1197del] g.[153296147_153303952del;153296082_153296122del] p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.[1129_1133delAAGGCinsGAGT; 1155_1200del46] g.[153296146_153296150delinsACTC;153296079_153296124del46] p.Lys377fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.[1043_1056del14; 1061_1074del14; 1104_1106del3; 1138_1163del26; 1178_1185del8] g.[153296223_153296236del14;153296205_153296218del14;153296173_153296175del3;153296116_153296141del26;153296094_153296101del8] p.Glu348fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.[1051_1065del15; 1088_1115del28; 1138_1207del70] g.[153296214_153296228del15;153296164_153296191del28;153296072_153296141del70] p.[Pro351_Ser355del; Lys363fs] frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.[641_653del13; 711_1309del599] g.[153296626_153296638del13;153295970_153296568del599] p.Glu214_Gln437delinsGlySerSerLeuSerArgCysLeuPheLysLeuArgGlnGlyAlaArgLeuArgGlyGlu in-frame insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.[380C>T];[380C>T] p.[Pro127Leu];[Pro127Leu] missense MBD Unknown Rett syndrome-not certain Female 1 View details
c.[473C>T];[473C>T] p.[Thr158Met];[Thr158Met] missense MBD Mutation associated with disease Rett syndrome-not certain Female 1 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 1 View details
c.[343C>T(;)1075_1178del104] g.[153297692G>A;153296101_153296204del104] p.[Arg115Cys(;)Ser359fs] missense, frameshift insertion or deletion MBD, C-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.[502C>T; 1136_1142del7] g.[153296777G>A;153296137_153296143del7] p.Arg168* nonsense, frameshift insertion or deletion MBD, C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.[27-?_377+?del(;)1085_1216del132] g.[153297658_153298008del;153296063_153296194del132] p.[Arg9_Asn126delinsSer(;) Pro362_Pro405del] large deletion, inframe insertion or deletion MBD, C-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.[27-?_1000+?dup(;)1100_1188del89] g.[153296279_153298008dup;153296091_153296179del89] p.[?(;)His367fs] complex rearrangement, frameshift insertion or deletion MBD, C-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.*1134G>A g.153294684C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-congenital Female 1 View details
c.[*8500C>G];[*8503delC] 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 1 View details
c.*8500C>G g.153287318G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 1 View details
c.[1155_1172del18; 1373G>A] g.[153296107_153296124del18;153295906C>T] p.[Leu386_Pro391del; Arg458His] in-frame insertion or deletion, missense c-term Unknown Rett syndrome-not certain Female 1 View details
c.[1373G>A; 1448_*29del43] g.[153295906C>T;153295789_153295831del43] p.[Arg458His; Glu483fs] frameshift insertion or deletion, missense c-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.[455C>G(;)683C>G] g.[153296824G>C;153296596G>C] p.[Pro152Arg(;)Thr228Ser] missense MBD, TRD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.[=/808delC] p.[=/Arg270fs] frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd. Male 1 View details
c.*8503dupC g.153287315dupG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2 View details
c.[1363G>T];[=] p.[Glu455*];[=] nonsense C-term Mutation associated with disease Rett syndrome-male variant Male 1 View details
c.*55C>G g.153295763G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 3 View details
c.[=/316C>T] p.[=/Arg106Trp] missense MBD Mutation associated with disease Rett syndrome-male variant Male 1 View details
c.[316C>T(;)1233C>T] g.[153297719G>A;153296046G>A] p.[Arg106Trp(;)Ser411Ser] missense, silent MBD, C-term Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.[334A>T(;)871T>G] g.[153297701T>A;153296408A>C] p.[Lys112*(;)Ser291Ala] nonsense, missense MBD, TRD Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.[473C>T(;)590C>T] g.[153296806G>A;153296689G>A] p.[Thr158Met(;)Thr197Met] missense MBD, inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.[473C>T(;)1233C>T] g.[153296806G>A;153296046G>A] p.[Thr158Met(;)Ser411Ser] missense, silent MBD, C-term Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.[473C>T(;)1335G>A] g.[153296806G>A;153295944C>T] p.[Thr158Met(;)Thr445Thr] missense, silent MBD, C-term Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.[397C>T(;)1233C>T] g.[153296882G>A;153296046G>A] p.[Arg133Cys(;)Ser411Ser] missense, silent MBD, C-term Mutation associated with disease Rett syndrome-Atypical Female 1 View details
c.[398G>T(;)602C>T] g.[153296881C>A;153296677G>A] p.[Arg133Leu(;)Ala201Val] missense MBD, inter-domain region Unknown Rett syndrome-Classical Female 1 View details
c.[590C>T(;)916C>T] g.[153296689G>A;153296363G>A] p.[Thr197Met(;)Arg306Cys] missense inter-domain region, TRD Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.[916C>T(;)1233C>T] g.[153296363G>A;153296046G>A] p.[Arg306Cys(;)Ser411Ser] missense, silent TRD, C-term Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.[1233C>T(;)1460G>T] g.[153296046G>A;153295819C>A] p.[Ser411Ser(;)*487Leuext*27] silent, non-stop C-term Unknown Rett syndrome-Classical Female 1 View details
c.[916C>T(;)*98dupA] g.[153296363G>A;153295720dupT] "p.Arg306Cys, 3'UTR variation" missense, 3'UTR variation TRD, 3'UTR Mutation associated with disease Rett syndrome-classical Female 1 View details
c.*92C>G g.153295726G>C 3'UTR variation 3'UTR variation 3'UTR Unknown Rett syndrome-classical Female 1 View details
c.[377+28A>G(;)1014C>T] g.[153297630T>C;153296265G>A] "intronic variation, p.Thr338Thr" intronic variation, silent intronic, C-term Silent polymorphism Rett syndrome-Classical Female 1 View details
p.[378-17delT]; [1161_1169del9;1178C>T; 1181_1191del11; 1233C>T] p.[Pro389_Pro391del;Pro393Leu;Glu394fs];[=] intronic variation, in-frame insertion or deletion, missense, frameshift insertion or deletion intronic, C-term Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.[378-74C>T(;)473C>T] g.[153296975G>A;153296806G>A] "intronic variation, p.Thr158Met" intronic variation, missense intronic, MBD Mutation associated with disease Rett syndrome-Atypical Female 1 View details
c.[378-74C>T];[378-74C>T] intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 1 View details
c.[426C>T(;)608C>T] g.[153296853G>A;153296671G>A] p.[Phe142Phe(;)Thr203Met] silent, missense MBD, inter-domain region Polymorphism not causing disease Rett syndrome-Atypical Female 1 View details
c.[455C>G(;)582C>T] g.[153296824G>C;153296697G>A] p.[Pro152Arg(;)Ser194Ser] missense, silent MBD, inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 1 View details
c.[473C>T(;)*14G>A] g.[153296806G>A;153295804C>T] "p.Thr158Met, 3'UTR variation" missense, 3'UTR variation MBD, 3'UTR Mutation associated with disease Rett syndrome-Atypical Female 1 View details
c.[763C>T(;)1133C>G] g.[153296516G>A;153296146G>C] p.[Arg255*(;)Ala378Gly] nonsense, missense TRD, C-term Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.[880C>T(;)1233C>T] g.[153296399G>A;153296046G>A] p.[Arg294*(;)Ser411Ser] nonsense, silent TRD, C-term Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.[834C>T(;) 856_859delAAAG(;) 1180G>A] g.[153296445G>A;153296420_153296423delCTTT;153296099C>T] p.[Ala278Ala(;) Lys286fs(;) Glu394Lys] silent, frameshift insertion or deletion, missense TRD, C-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.[1035A>G(;)1233C>T] g.[153296244T>C;153296046G>A] p.[Lys345Lys(;)Ser411Ser] silent C-term Silent polymorphism Rett syndrome-congenital Female 1 View details
c.[=/360T>G] p.[=/Tyr120*] nonsense MBD Mutation associated with disease Rett syndrome-atypical Male 1 View details
c.[1121_1311del191; 1326_1334del9] g.[153295968_153296158del191;153295945_153295953del9] p.Glu374fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.[276_277insG(;) 1162_1179del18] g.[153297758_153297759insC;153296100_153296117del18] p.[Pro94fs(;) Pro388_Pro393del] frameshift insertion or deletion, in-frame insertion or deletion MBD, C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.[397C>T(;) 582C>T] g.[153296882G>A;153296697G>A] p.[Arg133Cys(;) Ser194Ser] missense, silent MBD, inter-domain region Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.[535C>T(;) 763C>T] g.[153296744G>A;153296516G>A] p.[Pro179Ser(;) Arg255*] missense, nonsense inter-domain region, TRD Unknown Rett syndrome-classical Female 1 View details
c.[602C>T(;) 1157_1197del41] g.[153296677G>A;153296082_153296122del41] p.[Ala201Val(;) Leu386fs] frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 1 View details
c.[=/657-?_1316+?del] p.[=/?] in-frame insertion or deletion TRD Mutation associated with disease Rett syndrome-male variant Male 1 View details
c.[426C>T(;) 502C>T] g.[153296853G>A;153296777G>A] p.[Phe142Phe(;) Arg168*] nonsense, silent inter-domain region Mutation associated with disease Rett syndrome-classical Female 1 View details
c.[1112_1116del; 1116_1137inv; 1138_1152del15ins7] p.His371Glyfs*7 frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.[1077_1079delCTC(;) 1142C>T(;) 1157_1200del44] g.[153296200_153296202delGAG;153296137G>A;153296079_153296122del44] p.[Ser360del(;) Pro381Leu(;) Leu386fs] frameshift insertion or deletion, missense C-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.[584_624del41insTT; 638delTinsCA] g.[153296655_153296695delinsAA;153296641delinsTG] p.[Gly195_Gln208delinsVal; Leu213Profs*23] frameshift combined insertion and deletion inter-domain region, TRD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.[1123_1189del;1249_1270del] g.[153296090_153296156del;153296009_153296030del] p.Ser375Argfs*12 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 1 View details
c.[184-?_1065+?del; *5338_*5361+?del] g.[153296214_153297851del;153290457_153290480del] p.? exonic deletions C-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.*14G>A g.153295804C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Rett syndrome-not certain Female 3 View details
c.[502C>T;1180G>A];[832G>A] p.[Arg168*];[Ala278Thr] nonsense, missense inter-domain region, TRD, C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.[678delT];[378-109A>G;518C>G] p.[Gln227Lysfs*21];[Pro173Arg] frameshift insertion or deletion, intronic variation, missense TRD, intronic, inter-domain region Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.[378-109A>G;518C>G] g.[153297010T>C;153296761G>C] p.Pro173Arg intronic variation, missense intronic, inter-domain region Unknown Not Rett synd. Female 1 View details
c.[905C>T;917G>A] g.[153296374G>A;153296362C>T] p.[Pro302Leu;Arg306His] missense TRD Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.[502C>T;880C>T] g.[153296777G>A;153296399G>A] p.Arg168* nonsense inter-domain region, TRD Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.[203C>G;1094_1138del45] g.[153297832G>C;153296141_153296185del45] p.Ser68* nonsense, in-frame insertion or deletion N-term, C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.[1104_1106del3;1157_1197del41] g.[153296173_153296175del3;153296082_153296122del41] p.[His372del;Leu386fs] in-frame insertion or deletion, frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.[1089_1129del41;1156_1197del42] g.[153296150_153296190del41;153296082_153296123del42] p.Lys364Glyfs*13 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.[1024_1025insAG;1029delG;1155_1209del55] g.[153296254_153296255insCT;153296250delC;153296070_153296124del55] p.Proro342_Proro403delins44 combined in-frame insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.[1137C>T;1157_1200del44] g.[153296142G>A;153296079_153296122del44] p.[Pro379Pro;Leu386fs] silent, frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.[488_995del508;1061_1062delGC;1229_1240del12] g.[153296284_153296791del508;153296217_153296218delGC;153296039_153296050del12] p.Gly163Alafs*5 in-frame insertion or deletion, frameshift insertion or deletion inter-domain region, TRD, C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.[401C>G;1168_1173del6] g.[153296878G>C;153296106_153296111del6] p.[Ser134Cys;Pro390_Pro391del] missense, in-frame insertion or deletion MBD, C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.*156G>T g.153295662C>A Intronic variation 3' UTR variation 3' UTR Polymorphism not causing disease Not Rett synd. Female 1 View details
c.[1104_1106del3(;) 1157_1197del41] g.[153296173_153296175del3;153296082_153296122del41] p.[His372del(;) Leu386fs] frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.[1161_1166del6; 1180_1205del26] g.[153296113_153296118del6;153296074_153296099del26] p.[Pro390_Pro391del; Glu394fs] frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.[502C>T; 880C>T] g.[153296777G>A;153296399G>A] p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 1 View details
c.[401C>G; 1168_1173del6] g.[153296878G>C;153296106_153296111del6] p.[Ser134Cys; Pro390_Pro391del] missense, in-frame insertion or deletion MBD, C-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.[518C>G(;)678delT] g.[153296761G>C;153296601delA] p.[Pro173Arg(;)Gln227fs] missense inter-domain, TRD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.[964C>G(;)*98dupA] g.[153296315G>C;153295720dupT] p.Pro322Ala missense, 3'UTR variation C-term Unknown Rett syndrome-classical Female 1 View details
c.[1164_1207 del(;)1231_1233delAGC ] g.153296072_153296115del,g.153296046_153296048delGCT p.[Pro389*(;)Ser411del] nonsense,frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Male 1 View details
MECP2_e1: c.1A>T MeCP2_e1: p.M1? missense N-term Unknown Rett syndrome-classical Female 2 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 1 View details
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Rett syndrome-classcial Female 7 View details
c.1-?dup g.153357667dup p.Met1? large duplication N-term Unknown Rett syndrome-not certain Female 1 View details
c.1-?_26+?dup g.153357642_153357667dup p.Met1? large duplication N-term Unknown Rett syndrome-not certain Female 1 View details
MECP2_e1: c.1A>G MeCP2_e1: p.M1? missense N-term Unknown Rett syndrome-not certain Female 1 View details
MECP2_e1: c.2T>C MeCP2_e1: p.M1? missense N-term Mutation associated with disease Rett syndrome-classical Female 1 View details
MECP2_e1: c.5C>T MeCP2_e1: p.A2V missense N-term Unknown Rett syndrome-classical Female 4 View details
MECP2_e1: c.15_23dup9 MeCP2_e1: p.A6_A8dup in-frame insertion or deletion N-term Unknown Not Rett synd. Female 2 View details
MECP2_e1: c.15_23del9 MeCP2_e1: p.A6_A8del in-frame insertion or deletion exon 1 Polymorphism not causing disease Not Rett synd. Female 2 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 6 View details
MECP2_e1: c.18_23del6 MeCP2_e1: p.A7_A8del in-frame insertion or deletion N-term Unknown Not Rett synd. Female 1 View details
MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Not Rett synd. Female 5 View details
MECP2_e1: c.21_23dup3 MeCP2_e1: p.A8dup In-frame insertion or deletion N-term Unknown Not Known Female 1 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 1 View details
Mecp2_e1:c.23_27dup g.153363096_153363100dup p.Ser10Argfs*36 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Male 1 View details
c.26+2T>A g.153357640A>T intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Female 1 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 1 View details
c.27-8C>G g.153298016G>C intronic variation Intronic variation Intronic Unknown Rett syndrome-Classical Female 2 View details
c.27-6C>G g.153298014G>C p.Arg9fs Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Unknown 1 View details
c.27-2A>G g.153298010T>C intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Female 4 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Not certain Female 33 View details
c.27-?_(378_1461)del p.Arg9fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2 View details
c.27-9A>G g.153298017T>C intronic variation Intronic variation Intronic Unknown Rett syndrome-Classical Female 1 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 1 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 1 View details
c.27-55G>A g.153298063C>T intronic variation intronic variation intronic Unknown Not Rett synd. Unknown 1 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 3 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 1 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 1 View details
c.27-96_1205del (deletion of exon 3 and 4) p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.27-4722_*739delins43 p.Arg9fs frameshift combined insertion and deletion N-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.27-4722_*112delinsCACTTTGTG g.153295706_153302730delinsCACAAAGTG p.Arg9fs frameshift combined insertion and deletion N-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.27-6026_1190delinsGT (deletion of exons 3 and 4) p.Arg9fs frameshift combined insertion and deletion N-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.27-3928_1184del (deletion of exons 3 and 4) p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.27-5774_902delinsGTGCCCGGACTGATGTCA (deletion of exon 3 and part of exon 4) p.Arg9fs frameshift combined insertion and deletion N-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.27-?_377+?del (exon 3 deletion) p.Arg9_Asn126delinsSer frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3 View details
c.27-?_1021+?del (deletion of exons 3 and start of exon 4) p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.27-?_1170+?del (deletion of exon 3 and part of exon 4) p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 2 View details
c.27-?_1018+?del g.153296261_153298008del p.Arg9fs exonic deletions N-term Mutation associated with disease Rett syndrome-classical Female 3 View details
c.27-?_1397+?del g.153295882_153298008del p.Arg9fs exonic deletions N-term Mutation associated with disease Rett syndrome-classical Female 3 View details
c.27-?_1029+?del (deletion of exon 3 and partial deletion of exon 4) p.Arg9? frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-congenital Female 1 View details
c.27-?_*?del (deletion of exons 3 and 4) p.Arg9? exonic deletion N-term Mutation associated with disease Rett syndrome-classical Female 2 View details
c.28G>C g.153298007C>G p.Glu10Gln missense N-term Unknown Rett syndrome-forme fruste Female 1 View details
c.28G>T g.153298007C>A p.Glu10* nonsense N-term Mutation associated with disease Rett syndrome-not certain Female 1 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 1 View details
c.35_42dup g.153297993_153298000dup p.Asp15fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.36G>C g.153297999C>G p.Lys12Asn missense N-term Polymorphism not causing disease Rett syndrome-not certain Female 2 View details
MECP2_e1: c.42_47dupAGGAGG MeCP2_e1: p.G15_G16dup in-frame insertion or deletion N-term Unknown Rett syndrome-not certain Female 1 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 16 View details
MECP2_e1: c.45_47dup g.153363076_153363078dup p.Gly16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Known Male 1 View details
c.46C>T g.153297989G>A p.Gln16* Nonsense N-term Mutation associated with disease Not Known Female 2 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 8 View details
MECP2_e1: c.47_57dup11 MeCP2_e1: p.R20Afs*28 frameshift insertion or deletion exon 1 Mutation associated with disease Rett syndrome-classical Female 1 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 1 View details
MECP2_e1: c.48_55del8 MeCP2_e1: p.E18Tfs*21 frameshift insertion or deletion N-term Mutation associated with disease Not Rett synd. Female 1 View details
MECP2_e1: c.48C>T (r.48_63del) MeCP2_e1: p.Glu17Lysfs*22 splicing N-term Mutation associated with disease Rett syndrome-classical Female 1 View details
MECP2_e1: c.49G>A MeCP2_e1: p.E17K missense N-term Unknown Not Rett synd. Female 1 View details
c.50dupA g.153297985dupT p.Asp17fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.55C>T g.153297980G>A p.Gln19* Nonsense N-term Mutation associated with disease Rett syndrome-Atypical Female 2 View details
c.56dupA g.153297979dupT p.Leu21fs frameshift insertion or deletion N-term Mutation associated with disease Not Known Female 1 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 1 View details
MECP2_e1: c.62+2_62+3delTG intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 3 View details
MECP2_e1: c.62+1G>A intronic variation intronic variation intronic Unknown Rett syndrome-classical Female 1 View details
MECP2_e1:c.62+2_63+3delTG Intronic variation Frameshift deletion N-term Mutation associated with disease Rett syndrome-male variant Male 1 View details
c.64A>T g.153297971T>A p.Lys22* Nonsense N-term Mutation associated with disease Rett syndrome-Classical Female 2 View details
c.76delC g.153297959delG p.Leu26fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Unknown 2 View details
c.91delG g.153297944delC p.Val31* Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.100_103delGATA g.153297932_153297935delTATC p.Asp34fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2 View details
c.107_113del7 g.153297922_153297928del7 p.Lys36fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.107_108delAA g.153297927_153297928delTT p.Lys36fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 1 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 2 View details
c.117dupA g.153297918dupT p.Glu40fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.119_120delAG g.153297915_153297916delCT p.Glu40fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 2 View details
CDKL5: c.119C>T CDKL5: p.A40V missense CDKL5 Mutation associated with disease Not Rett synd. Female 1 View details
c.126dupG g.153297909dupC p.His43fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Atypical Female 1 View details
c.140dupA g.153297895dupT p.Pro48fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.146C>A g.153297889G>T p.Ser49* Nonsense N-term Mutation associated with disease Rett syndrome-Not certain Unknown 4 View details
c.146C>G g.153297889G>C p.Ser49* nonsense N-term Mutation associated with disease Not Known Female 1 View details
c.153C>G g.153297882G>C p.His51Gln missense N-term Unknown Not Rett synd. Female 2 View details
c.155A>G g.153297880T>C p.His52Arg Missense N-term Unknown Not Rett synd. Female 1 View details
c.164_182del g.153297853_153297871del p.Pro56GlnfsTer63 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.167_168delCC g.153297867_153297868delGG p.Pro56fs Frameshift insertion or deletion N-term Mutation associated with disease Not Known Male 2 View details
c.168C>T g.153297867G>A p.Pro56Pro Silent N-term Silent polymorphism Rett syndrome-Not certain Unknown 3 View details
c.184-?_1065+?del g.153296214_153297851del p.? exonic deletions MBD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.189_190delGA g.153297845_153297846delTC p.Glu63fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.194C>G g.153297841G>C p.Ser65* Nonsense N-term Mutation associated with disease Not Known Female 2 View details
c.201delG g.153297834delC p.Ser68fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Not certain Unknown 1 View details
c.203C>G g.153297832G>C p.Ser68* nonsense MBD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.210C>T g.153297825G>A p.Ser70Ser Silent N-term Silent polymorphism Not Known Female 4 View details
c.215C>T g.153297820G>A p.Pro72Leu Missense N-term Unknown Not Known Male 1 View details
c.215dupC g.153297820dupG p.Ala73fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.215_216insT g.153297819_153297820insA p.Ala73fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.224C>T g.153297811G>A p. Pro75Leu missense N-term Unknown Not Known Female 1 View details
c.225G>A g.153297810C>T p.Pro75Pro silent N-term Silent polymorphism Not Rett synd. Male 1 View details
c.226delG g.153297809delC p.Glu76fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.229_238del10 g.153297797_153297806del10 p.Ala77fs Frameshift insertion or deletion N-term Mutation associated with disease Not Known Female 2 View details
c.233delC g.153297802delG p.Ser78fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.243dupC g.153297792dupG p.Lys82fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.245A>G g.153297790T>C p.Lys82Arg missense MBD Polymorphism not causing disease Not Rett synd. Male 1 View details
c.248-?_320+?del (exon 3 deletion) p.? in-frame insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.249_250ins7 p.Arg84fs Frameshift insertion or deletion MBD Mutation associated with disease Not Known Female 1 View details
c.257C>G g.153297778G>C p.Ser86Cys Missense MBD Unknown Rett syndrome-Not certain Female 1 View details
c.258_259delCA g.153297776_153297777delTG p.Ile87fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1 View details
c.274G>T g.153297761C>A p.Gly92* nonsense MBD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.277C>T g.153297758G>A p.Pro93Ser Missense MBD Unknown Rett syndrome-Classical Female 1 View details
c.279C>T g.153297756G>A p.Pro93Pro silent MBD Silent polymorphism Rett syndrome-atypical Female 1 View details
c.289G>T g.153297746C>A p.Asp97Tyr Missense MBD Unknown Rett syndrome-Not certain Female 4 View details
c.291C>A g.153297744G>T p.Asp97Glu Missense MBD Unknown Rett syndrome-Not certain Unknown 2 View details
c.295_297delACC g.153297738_153297740delGGT p.Thr99del in-frame insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.297C>G g.153297738G>C p.Thr99Thr Silent MBD Silent polymorphism Rett syndrome-Not certain Female 1 View details
c.298C>G g.153297737G>C p.Leu100Val Missense MBD Unknown Rett syndrome-Not certain Female 7 View details
c.299T>G g.153297736A>C p.Leu100Arg Missense MBD Unknown Rett syndrome-classical Female 1 View details
c.301C>T g.153297734G>A p.Pro101Ser Missense MBD Unknown Rett syndrome-Classical Female 4 View details
c.302C>G g.153297733G>C p.Pro101Arg Missense MBD Unknown Rett syndrome-Not certain Female 5 View details
c.302C>A g.153297733G>T p.Pro101His Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.302C>T g.153297733G>A p.Pro101Leu Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.308G>A g.153297727C>T p.Gly103Asp missense MBD Unknown Rett syndrome-atypical Female 1 View details
c.310T>C g.153297725A>G p.Trp104Arg missense MBD Unknown Rett syndrome-not certain Female 1 View details
c.311_323del13 g.153297712_153297724del13 p.Trp104fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Atypical Female 1 View details
c.311G>A g.153297724C>T p.Trp104* Nonsense MBD Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.315dupA g.153297720dupT p.Arg106fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 134 View details
c.316C>G g.153297719G>C p.Arg106Gly Missense MBD Unknown Rett syndrome-Classical Female 5 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Classical Female 21 View details
c.317G>T g.153297718C>A p.Arg106Leu Missense MBD Unknown Rett syndrome-Classical Female 1 View details
c.318_321dup g.153297714_153297717dup p.Leu108fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.323T>A g.153297712A>T p.Leu108His missense MBD Unknown Rett syndrome-Classical Female 1 View details
c.326dupA g.153297709dupT p.Gln110fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.331A>G g.153297704T>C p.Arg111Gly Missense MBD Unknown Rett syndrome-Not certain Unknown 1 View details
c.341G>C g.153297694C>G p.Gly114Ala Missense MBD Unknown Rett syndrome-Not certain Female 1 View details
c.343_1282del g.153295997_153297692del p.Arg115_Glu394del in-frame insertion or deletion MBD, inter-domain, TRD, TRD-NLS, C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.345delC g.153297690delG p.Ser116fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.358T>G g.153297677A>C p.Tyr120Asp missense MBD Unknown Rett syndrome-not certain Female 1 View details
c.362A>G g.153297673T>C p.Asp121Gly Missense MBD Unknown Not Known Female 1 View details
c.364G>A g.153297671C>T p.Val122Met missense MBD Unknown Rett syndrome-not certain Female 1 View details
c.365T>C g.153297670A>G p.Val122Ala missense MBD Unknown Not Rett synd. Male 3 View details
c.372G>C g.153297663C>G p.Leu124Phe Missense MBD Unknown Rett syndrome-Classical Female 2 View details
c.372G>T g.153297663C>A p.Leu124Phe missense MBD Unknown Rett syndrome-classical Female 1 View details
c.375delC g.153297660delG p.Asn126fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Classical Female 2 View details
c.375C>A g.153297660G>T p.Ile125Ile Silent MBD Silent polymorphism Rett syndrome-Not certain Unknown 8 View details
c.377+11G>C g.153297647C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 19 View details
c.377+2T>G g.153297656A>C intronic variation Intronic variation Intronic Unknown Rett syndrome-Not certain Unknown 1 View details
c.377+6_377+9del g.153297649_153297652del intronic variation Intronic variation Intronic Unknown Not Rett synd. Female 1 View details
c.377+95G>A g.153297563C>T intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 2 View details
c.377+18C>G g.153297640G>C intronic variation intronic variation intronic Unknown Not Rett synd. Unknown 1 View details
c.377+24C>A g.153297634G>T intronic variation intronic variation intronic Unknown Not Rett synd. Male 3 View details
c.377+1G>T g.153297657C>A intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 1 View details
c.377A>G g.153297658T>C p.Asn126Ser missense MBD Unknown Not Rett synd. Female 1 View details
c.377+266T>C g.153297392A>G intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 1 View details
c.377+1G>A g.153297657C>T intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.377+28A>G g.153297630T>C intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 1 View details
c.377+30G>A g.153297628C>T intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 1 View details
c.377A>T g.153297658T>A p.Asn126Ile missense MBD Unknown Not Rett synd. Male 1 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 90 View details
c.378-2A>G g.153296903T>C intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-Not certain Female 4 View details
c.378-61C>G g.153296962G>C intronic variation Intronic variation Intronic Unknown Not Rett synd. Female 1 View details
c.378-2A>C g.153296903T>G intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Unknown 3 View details
c.378-241C>T g.153297142G>A intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Classical Female 1 View details
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 11 View details
c.378-74C>T g.153296975G>A intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 29 View details
c.378-3C>G g.153296904G>C intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Classical Female 3 View details
c.378-?_1337+?del g.153295942_153296901del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-classical Female 2 View details
c.378-?_1185+?del g.153296094_153296901del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.378-2A>T g.153296903T>A intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.378-?_1170+?del g.153296109_153296901del p.Asn126fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-not certain Female 1 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 1 View details
c.378-109A>G g.153297010T>C intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Atypical Female 3 View details
c.378-14G>A g.153296915C>T intronic variation intronic variation intronic Unknown Rett syndrome-Classical Female 1 View details
c.378-70C>G g.153296971G>C intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 1 View details
c.378-65C>G g.153296966G>C intronic intronic Polymorphism not causing disease Not Rett synd. Female 1 View details
c.380C>T g.153296899G>A p.Pro127Leu Missense MBD Unknown Rett syndrome-Preserved speech Female 5 View details
c.382C>T g.153296897G>A p.Gln128* nonsense MBD Mutation associated with disease Rett syndrome-not certain Female 2 View details
c.382_1189del808 g.153296090_153296897del808 p.Gln128fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.383A>C g.153296896T>G p.Gln128Pro missense MBD Unknown Rett syndrome-late regression Female 1 View details
c.386G>T g.153296893C>A p.Gly129Val Missense MBD Unknown Not Known Female 2 View details
c.390dupA g.153296889dupT p.Ala131fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.392C>A g.153296887G>T p.Ala131Asp missense MBD Unknown Rett syndrome-classical Female 2 View details
c.393C>G g.153296886G>C p.Ala131Ala Silent MBD Silent polymorphism Rett syndrome-Not certain Female 4 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 217 View details
c.397C>G g.153296882G>C p.Arg133Gly Missense MBD Unknown Not Known Female 2 View details
c.397C > T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 3 View details
c.398G>A g.153296881C>T p.Arg133His Missense MBD Unknown Rett syndrome-Not certain Female 8 View details
c.398G>T g.153296881C>A p.Arg133Leu Missense MBD Unknown Rett syndrome-Classical Female 1 View details
c.398G>C g.153296881C>G p.Arg133Pro missense MBD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.400T>C g.153296879A>G p.Ser134Pro missense MBD Unknown Rett syndrome-Classical Female 1 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 21 View details
c.401C>T g.153296878G>A p.Ser134Phe Missense MBD Unknown Not Known Female 5 View details
c.403A>G g.153296876T>C p.Lys135Glu Missense MBD Unknown Rett syndrome-Not certain Unknown 8 View details
c.409_1158del g.153296121_153296870del p.Glu137_Leu386del in-frame insertion or deletion MBD, inter-domain region, TRD, TRD-NLS, C-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.410A>G g.153296869T>C p.Glu137Gly Missense MBD Mutation associated with disease Not Rett synd. Male 1 View details
c.411delG g.153296868delC p.Glu137fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1 View details
c.413T>A g.153296866A>T p.Leu138* nonsense MBD Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.413T>C g.153296866A>G p.Leu138Ser missense MBD Unknown Rett syndrome-classical Female 1 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Female 29 View details
c.420delG g.153296859delC p.Tyr141fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.422dupA g.153296857dupT p.Tyr141* Frameshift insertion or deletion MBD Mutation associated with disease Not Known Female 1 View details
c.422A>G g.153296857T>C p.Tyr141Cys Missense MBD Unknown Rett syndrome-Atypical Female 5 View details
c.423C>G g.153296856G>C p.Tyr141* Nonsense MBD Mutation associated with disease Rett syndrome-Classical Female 16 View details
c.426C>T g.153296853G>A p.Phe142Phe Silent MBD Silent polymorphism Rett syndrome-Not certain Female 8 View details
c.427G>A g.153296852C>T p.Glu143Lys missense MBD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.428_429insT g.153296850_153296851insA p.Glu143fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1 View details
c.430A>T g.153296849T>A p.Lys144* Nonsense MBD Mutation associated with disease Rett syndrome-Not certain Female 2 View details
c.431delA g.153296848delT p.Lys144fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.431A>G g.153296848T>C p.Lys144Arg missense MBD Polymorphism not causing disease Not Rett synd. Female 1 View details
c.439delG g.153296840delC p.Asp147fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1 View details
c.439G>A g.153296840C>T p.Asp147Asn missense MBD Polymorphism not causing disease Not Rett synd. Female 1 View details
c.441C > G g.153296838G>C p.Asp147Glu missense MBD Unknown Not Rett synd. Male 2 View details
c.451delG g.153296828delC p.Asp151fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-atypical Unknown 1 View details
c.452A>G g.153296827T>C p.Asp151Gly missense MBD Unknown Rett syndrome-atypical Female 2 View details
c.454C>G g.153296825G>C p.Pro152Ala missense MBD Mutation associated with disease Not Rett synd. Female 2 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 71 View details
c.455C>T g.153296824G>A p.Pro152Leu missense MBD Mutation associated with disease Not Rett synd. Female 1 View details
c.463T>A g.153296816A>T p.Phe155Ile Missense MBD Unknown Rett syndrome-Not certain Unknown 1 View details
c.464T>C g.153296815A>G p.Phe155Ser Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 2 View details
c.464T>G g.153296815A>C p.Phe155Cys Missense MBD Unknown Rett syndrome-Atypical Female 2 View details
c.467A>G g.153296812T>C p.Asp156Gly Missense MBD Unknown Rett syndrome-Not certain Female 2 View details
c.467A>C g.153296812T>G p.Asp156Ala missense MBD Unknown Rett syndrome-classical Female 1 View details
c.468C>G g.153296811G>C p.Asp156Glu Missense MBD Unknown Rett syndrome-Not certain Female 15 View details
c.469T>A g.153296810A>T p.Phe157Ile Missense MBD Unknown Rett syndrome-Not certain Female 3 View details
c.470dupT g.153296809dupA p.Thr158fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1 View details
c.470_471delTC g.153296808_153296809delGA p.Phe157fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-preserved speech Female 1 View details
c.471C>G g.153296808G>C p.Phe157Leu missense MBD Unknown Rett syndrome-classical Female 1 View details
c.472A>G g.153296807T>C p.Thr158Ala Missense MBD Unknown Rett syndrome-Preserved speech Female 2 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Male variant Male 420 View details
c.473C > T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 4 View details
c.474G>A g.153296805C>T p.Thr158Thr Silent MBD Silent polymorphism Rett syndrome-Not certain Female 3 View details
c.475delG g.153296804delC p.Val159* frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.478dupA g.153296801dupT p.Thr160fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.479C>G g.153296800G>C p.Thr160Ser Missense MBD Unknown Not Known Female 2 View details
c.480_481delTG g.153296798_153296799delCA p.Gly161fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Atypical Female 1 View details
c.480delT g.153296799delA p.Arg162fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.481G>T g.153296798C>A p.Gly161Trp Missense MBD Unknown Rett syndrome-Not certain Unknown 1 View details
c.481_987del507ins8 p.Gly161fs frameshift combined insertion and deletion MBD Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.482G>T g.153296797C>A p.Gly161Val Missense MBD Unknown Rett syndrome-atypical Female 2 View details
c.482G>A g.153296797C>T p.Gly161Glu missense MBD Unknown Rett syndrome-classical Female 1 View details
c.483delG g.153296796delC p.Arg162fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1 View details
c.484dupA g.153296795dupT p.Arg162fs frameshift insertion or deletion inter-domain region Mutation associated with disease Rett syndrome-classical Female 1 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 2 View details
c.488_1189del702 g.153296090_153296791del702 p.Gly163_Ser396del in-frame insertion or deletion inter-domain region Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.495delC g.153296784delG p.Ser166fs frameshift insertion or deletion inter-domain region Mutation associated with disease Not Known Female 1 View details
c.499C>T g.153296780G>A p.Arg167Trp Missense Inter-domain region Unknown Not Rett synd. Male 5 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 364 View details
c.502C > T g.153296777G>A p.Arg168* nonsense Inter-domain region Mutation associated with disease Rett syndrome-classical Female 2 View details
c.506_507dupAG g.153296772_153296773dupCT p.Gln170fs frameshift insertion or deletion Inter-domain Mutation associated with disease Not Rett synd. Male 1 View details
c.508C>T g.153296771G>A p.Gln170* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 7 View details
c.514C>T g.153296765G>A p.Pro172Ser missense inter-domain region Unknown Not Rett synd. Male 2 View details
c.515C>T g.153296764G>A p.Pro172Leu missense inter-domain region Polymorphism not causing disease Not Rett synd. Female 2 View details
c.517C>G g.153296762G>C p.Pro173Ala Missense Inter-domain region Unknown Rett syndrome-Not certain Unknown 1 View details
c.518C>G g.153296761G>C p.Pro173Arg missense inter-domain region Unknown Not Known Female 4 View details
c.523A>T g.153296756T>A p.Lys175* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1 View details
c.527C>G g.153296752G>C p.Pro176Arg Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Male 7 View details
c.529A>T g.153296750T>A p.Lys177* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1 View details
c.531delA g.153296748delT p.Lys177fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1 View details
c.535C>T g.153296744G>A p.Pro179Ser missense inter-domain Unknown Not Rett synd. Female 1 View details
c.538A>T g.153296741T>A p.Lys180* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.542C>T g.153296737G>A p.Ala181Val Missense Inter-domain region Unknown Not Rett synd. Male 2 View details
c.543_544delTC g.153296735_153296736delGA p.Pro182fs frameshift insertion or deletion inter-domain region Mutation associated with disease Rett syndrome-classical Female 1 View details
c.547G>C g.153296732C>G p.Gly183Arg missense inter-domain region Polymorphism not causing disease Not Rett synd. Female 2 View details
c.554delG g.153296725delC p.Gly185fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1 View details
c.566delG g.153296713delC p.Gly189fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.566dupG g.153296713dupC p.Arg190fs frameshift insertion or deletion inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.567dupA g.153296712dupT p.Arg190fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 2 View details
c.573C>T g.153296706G>A p.Pro191Pro silent inter-domain region Silent polymorphism Not Rett synd. Male 1 View details
c.573delC g.153296706delG p.Ser194Alafs*16 frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-congenital onset Female 1 View details
c.574A>T g.153296705T>A p.Lys192* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 1 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Rett synd. Female 38 View details
c.585C>T g.153296694G>A p.Gly195Gly Silent Inter-domain region Silent polymorphism Not Known Female 1 View details
c.587C>G g.153296692G>C p.Thr196Ser Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Female 14 View details
c.590C>T g.153296689G>A p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Female 14 View details
c.591G>A g.153296688C>T p.Thr197Thr Silent Inter-domain region Silent polymorphism Not Rett synd. Male 1 View details
c.592A>T g.153296687T>A p.Arg198* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2 View details
c.596C>A g.153296683G>T p.Pro199His missense inter-domain region Unknown Not Rett synd. Female 1 View details
c.598A>T g.153296681T>A p.Lys200* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2 View details
c.601dupG g.153296678dupC p.Ala201fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1 View details
c.602C>T g.153296677G>A p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Unknown 29 View details
c.603G>A g.153296676C>T p.Ala201Ala silent inter-domain region Silent polymorphism Not Rett synd. Female 1 View details
c.605G>A g.153296674C>T p.Ala202His Missense Inter-domain Unknown Rett syndrome-atypical Female 1 View details
c.608C>T g.153296671G>A p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Rett syndrome-atypical Female 15 View details
c.608_609insA g.153296670_153296671insT p.Ser204fs frameshift insertion or deletion inter-domain region Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.609G>A g.153296670C>T p.Thr203Thr silent inter-domain region Silent polymorphism Not Rett synd. Male 1 View details
c.611C>G g.153296668G>C p.Ser204* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 5 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 1 View details
c.611C>A g.153296668G>T p.Ser204* nonsense inter-domain Mutation associated with disease Rett syndrome-classical Female 1 View details
c.613G>T g.153296666C>A p.Glu205* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 2 View details
c.616_1122del507 g.153296157_153296663del507 p.Gly206_Glu374del inframe insertion or deletion inter-domain region, TRD, TRD-NLS, C-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.617delG g.153296662delC p.Gly206fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.617G>C g.153296662C>G p.Gly206Ala missense inter-domain region Unknown Not Rett synd. Male 1 View details
c.620dupT g.153296659dupA p.Gln208fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Unknown 1 View details
c.622C>T g.153296657G>A p.Gln208* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.627G>A g.153296652C>T p.Val209Val silent TRD Silent polymorphism Not Rett synd. Unknown 1 View details
c.629A>T g.153296650T>A p.Lys210Ile Missense TRD Unknown Rett syndrome-Not certain Unknown 1 View details
c.631-?_657+?del g.153296622_153296648del p.? exonic deletion MBD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.631-?_657+?dup g.153296622_153296648dup p.? exonic duplication MBD Unknown Rett syndrome-preserved speech Female 1 View details
c.633G>C g.153296646C>G p.Arg211Ser Missense TRD Polymorphism not causing disease Rett syndrome-Classical Female 3 View details
c.635_655del21 g.153296624_153296644del21 p.Val212_Lys219delinsGlu In-frame insertion or deletion TRD Unknown Rett syndrome-Not certain Female 1 View details
MECP2_e1: c.638C>T g.153296677G>A p.Ala213Val missense TRD Polymorphism not causing disease Not Known Male 1 View details
c.651_652delTG g.153296627_153296628delCA p.Gly218fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 2 View details
MECP2_e1: c.653G>C g.153296662C>G p.Gly218Ala missense TRD Unknown Not Known Female 1 View details
c.654_657delGAAG g.153296622_153296625delCTTC p.Lys219fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.660C>T g.153296619G>A p.Leu220Leu silent TRD Silent polymorphism Not Rett synd. Female 1 View details
c.666C>G g.153296613G>C p.Val222Val Silent TRD Silent polymorphism Rett syndrome-Preserved speech Female 3 View details
c.667A>T g.153296612T>A p.Lys223* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.669_686conAL078639.5:g.94544_94611 p.Lys223Asnfs*12 frameshift insertion or deletion TRD, TRD-NLS, C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.673C>A g.153296606G>T p.Pro225Thr missense TRD Mutation associated with disease Not Known Female 1 View details
c.674C>G g.153296605G>C p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Classical Female 20 View details
c.674C>T g.153296605G>A p.Pro225Leu Missense TRD Unknown Rett syndrome-Male variant Male 2 View details
c.676_677insA g.153296602_153296603insT p.Phe226fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 2 View details
c.677_678insA g.153296601_153296602insT p.Phe226fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.679C>G g.153296600G>C p.Gln227Glu missense TRD Unknown Not Rett synd. Female 1 View details
c.679C>T g.153296600G>A p.Gln227* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.683C>G g.153296596G>C p.Thr228Ser Missense TRD Polymorphism not causing disease Rett syndrome-Not certain Female 7 View details
c.686C>T g.153296593G>A p.Ser229Leu Missense TRD Polymorphism not causing disease Rett syndrome-Classical Female 6 View details
c.686C>A g.153296593G>T p.Ser229* nonsense TRD Mutation associated with disease Not Known Female 1 View details
c.689_756del68 g.153296523_153296590del68 p.Pro230fs frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1 View details
c.690A>C g.153296589T>G p.Pro230Pro Silent TRD Silent polymorphism Not Known Female 2 View details
c.695delG g.153296584delC p.Gly232fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 5 View details
c.695G>C g.153296584C>G p.Gly232Ala missense TRD Polymorphism not causing disease Rett syndrome-NK Female 17 View details
c.695dupG g.153296584dupC p.Lys233fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 2 View details
[c.695 G > T; c.880C > T] p.[Gly232Val;Arg294*] missense,nonsense TRD Mutation associated with disease Rett syndrome- Female 1 View details
c.696delC g.153296583delG p.Lys233fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 5 View details
c.710dupG g.153296569dupC p.Gly238fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 7 View details
c.710delG g.153296569delC p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 13 View details
c.711_1269del559 g.153296010_153296568del559 p.Gly238fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.715delG g.153296564delC p.Ala239fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1 View details
c.717del C g.153296562delG p.Thr240Profs*8 frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.720dupC g.153296559dupG p.Thr241fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1 View details
c.720C>T g.153296559G>A p.Thr240Thr Silent TRD Silent polymorphism Not Known Female 2 View details
c.720C>G g.153296559G>C p.Thr240Thr Silent TRD Silent polymorphism Not Rett synd. Female 2 View details
c.730C>T g.153296549G>A p.Gln244* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 4 View details
c.731_1166del436 g.153296113_153296548del436 p.Gln244fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1 View details
c.734_759del26 g.153296520_153296545del26 p.Val245fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.736_737insAT g.153296542_153296543insAT p.Met246fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.736_743delinsGTG g.153296536_153296543delinsCAC p.Met246fs frameshift combined insertion and deletion TRD Mutation associated with disease Not Known Female 1 View details
c.739delG g.153296540delC p.Val247fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.747_751dup5 g.153296528_153296532dup5 p.Pro251fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1 View details
c.748dupC g.153296531dupG p.Arg250fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 2 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 1 View details
c.748_749insT g.153296530_153296531insA p.Arg250fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.749G>A g.153296530C>T p.Arg250His Missense TRD Polymorphism not causing disease Rett syndrome-Not certain Female 2 View details
c.750C>T g.153296529G>A p.Arg250Arg Silent TRD Silent polymorphism Not Rett synd. Female 3 View details
c.750_750delCinsTCAGGAAGCTT g.153296529delinsAAGCTTCCTGA p.Pro251fs Frameshift combined insertion and deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1 View details
c.752C>T g.153296527G>A p.Pro251Leu Missense TRD Polymorphism not causing disease Not Rett synd. Male 1 View details
c.752_753dupCC g.153296526_153296527dupGG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 3 View details
c.752C>G g.153296527G>C p.Pro251Arg missense TRD Unknown Not Known Female 1 View details
c.753dupC g.153296526dupG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 4 View details
c.753delC g.153296526delG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 6 View details
c.753C>T g.153296526G>A p.Pro251Pro silent TRD Silent polymorphism Rett syndrome-classical Female 3 View details
c.753_754dup g.153296525_153296526dup p.Gly252fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.755delG g.153296524delC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-atypical Female 1 View details
c.755dupG g.153296524dupC p.Arg253fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 2 View details
c.756_759delCAGG g.153296520_153296523delCCTG p.Arg253fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2 View details
c.756_763dup g.153296516_153296523dup p.Arg255fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.760A>T g.153296519T>A p.Lys254* Nonsense TRD Mutation associated with disease Not Known Female 1 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 319 View details
c.763_1383del621ins15 p.Arg255_Ile461delins5 in-frame combined insertion and deletion TRD, TRD-NLS, C-term Mutation associated with disease Not Known Female 1 View details
c.763C > T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3 View details
c.764_765ins8 p.Arg255fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1 View details
c.766_779dup14 g.153296500_153296513dup14 p.Asp260fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 1 View details
c.766A>T g.153296513T>A p.Lys256* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 1 View details
c.767_1175del409 g.153296104_153296512del409 p.Lys256Serfs*17 frameshift insertion or deletion TRD-NLS, C-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.777C>T g.153296502G>A p.Ala259Ala Silent TRD-NLS Silent polymorphism Rett syndrome-Not certain Unknown 6 View details
c.784C>T g.153296495G>A p.Gln262* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2 View details
c.785_818del34 g.153296461_153296494del34 p.Gln262fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1 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 1 View details
c.795C>G g.153296484G>C p.Pro265Pro silent TRD-NLS Silent polymorphism Rett syndrome-atypical Female 1 View details
c.799A>T g.153296480T>A p.Lys267* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 63 View details
c.806del G g.153296473delC p.Gly269Alafs*20 frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 1 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 1 View details
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 20 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 276 View details
c.808C > T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 4 View details
c.810_813delAAAG g.153296466_153296469delCTTT p.Lys271fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.812_818del7 g.153296461_153296467del7 p.Lys271fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.815C>T g.153296464G>A p.Pro272Leu Missense TRD Polymorphism not causing disease Rett syndrome-Not certain Female 8 View details
c.816_832del17 g.153296447_153296463del17 p.Gly273fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.819G>T g.153296460C>A p.Gly273Gly Silent TRD Silent polymorphism Not Rett synd. Female 10 View details
c.819delG g.153296460delC p.Ser274fs frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1 View details
c.820_1153del334ins67 uncertain combined in-frame insertion and deletion TRD, C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.820_823dupAGTG g.153296456_153296459dupCACT p.Val275Glufs*57 frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.822_1184del363 g.153296095_153296457del363 p.Val275_Ser396del in-frame insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.829delG g.153296450delC p.Ala277fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.830delC g.153296449delG p.Ala277fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.830_831ins23 p.Ala277fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.832G>A g.153296447C>T p.Ala278Thr missense TRD Polymorphism not causing disease Not Rett synd. Female 1 View details
c.834C>T g.153296445G>A p.Ala278Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 7 View details
c.834_939del106 g.153296340_153296445del106 p.Ala279fs frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1 View details
c.836C>T g.153296443G>A p.Ala279Val missense TRD Unknown Rett syndrome-classical Female 3 View details
c.840C>T g.153296439G>A p.Ala280Ala Silent TRD Silent polymorphism Not Rett synd. Female 4 View details
c.842_843insT g.153296436_153296437insA p.Glu282fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.843C>T g.153296436G>A p.Ala281Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 5 View details
c.849_1236del388 g.153296043_153296430del388 p.Lys284fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1 View details
c.849C>G g.153296430G>C p.Ala283Ala Silent TRD Silent polymorphism Not Rett synd. Male 1 View details
c.850A>G g.153296429T>C p.Lys284Glu Missense TRD Unknown Not Rett synd. Male 1 View details
c.851_1188del338 g.153296091_153296428del338 p.Lys284fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.854dupA g.153296425dupT p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1 View details
c.855_859del5ins12 p.Ala287Lysfs*46 combined frameshift insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.856_859delAAAG g.153296420_153296423delCTTT p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 10 View details
c.857A>G g.153296422T>C p.Lys286Arg missense TRD Unknown Not Known Female 1 View details
c.857_858dupAA g.153296421_153296422dupTT p.Ala287Lysfs*3 frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.859G>C g.153296420C>G p.Ala287Pro Missense TRD Unknown Rett syndrome-Not certain Female 1 View details
c.863_881del19 g.153296398_153296416del19 p.Val288fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.864dupG g.153296415dupC p.Lys289fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1 View details
c.865A>T g.153296414T>A p.Lys289* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.865_866delAA g.153296413_153296414delTT p.Lys289fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.867_1223delinsA g.153296056_153296412delinsT p.Ser291Glnfs*26 frameshift combined insertion and deletion TRD, C-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.869dupA g.153296410dupT p.Ser291fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.869_880delinsCACA g.153296399_153296410delinsTGTG p.Glu290Alafs*38 frameshift combined insertion and deletion TRD, C-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.871T>G g.153296408A>C p.Ser291Ala Missense TRD Unknown Rett syndrome-Not certain Female 1 View details
c.871_1044del g.153296235_153296408del p.Ile293_Ser350del in-frame insertion or deletion TRD, C-term Mutation associated with disease Rett syndrome-atypical Female 1 View details
c.874_875insA g.153296404_153296405insT p.Ser292fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 239 View details
c.880_884del5 g.153296395_153296399del5 p.Arg294fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1 View details
c.881G>C g.153296398C>G p.Arg294Pro Missense TRD Polymorphism not causing disease Rett syndrome-Not certain Female 2 View details
c.881_902del22 g.153296377_153296398del22 p.Arg294fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.883delT g.153296396delA p.Ser295fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.889C>T g.153296390G>A p.Gln297* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2 View details
c.894_1095del202 g.153296184_153296385del202 p.Glu298fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Rett syndrome-Not certain Female 38 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 1 View details
c.898_1099del202 g.153296180_153296381del202 p.Val300fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.898G>A g.153296381C>T p.Val300Ile Missense TRD Unknown Rett syndrome-Classical Female 3 View details
c.898_904del7 g.153296375_153296381del7 p.Val300fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1 View details
c.898_901del g.153296378_153296381del p.Val300fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.898delG g.153296381delC p.Val300fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.900_908del g.153296371_153296379del p.Leu301_Ile303del in-frame insertion or deletion TRD Unknown Rett syndrome-forme fruste Female 1 View details
c.903C>T g.153296376G>A p.Leu301Leu Silent TRD Silent polymorphism Rett syndrome-Classical Female 1 View details
c.904C>G g.153296375G>C p.Pro302Ala Missense TRD Unknown Rett syndrome-Preserved speech Female 4 View details
c.904C>T g.153296375G>A p.Pro302Ser missense TRD Unknown Rett syndrome-Classical Female 1 View details
c.904C>A g.153296375G>T p.Pro302Thr missense TRD Unknown Rett syndrome-classical Female 1 View details
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 16 View details
c.905C>A g.153296374G>T p.Pro302His Missense TRD Unknown Rett syndrome-Not certain Unknown 3 View details
c.905C>T g.153296374G>A p.Pro302Leu Missense TRD Unknown Rett syndrome-Classical Unknown 6 View details
c.906C>G g.153296373G>C p.Pro302Pro silent TRD Silent polymorphism Not Rett synd. Male 1 View details
c.906delC g.153296373delG p.Ile303fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.906_1138del233insAC g.153296141_153296373delinsGT p.Ile303_Val380delinsLeu in-frame combined insertion and deletion TRD, C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.908T>G g.153296371A>C p.Ile303Ser missense TRD Unknown Rett syndrome-not certain Female 1 View details
c.909C>G g.153296370G>C p.Ile303Met missense TRD Unknown Not Rett synd. Female 2 View details
c.910A>G g.153296369T>C p.Lys304Glu Missense TRD Unknown Not Known Female 2 View details
c.911A>G g.153296368T>C p.Lys304Arg missense TRD Unknown Not Known Female 1 View details
c.913A>G g.153296366T>C p.Lys305Glu missense TRD Unknown Rett syndrome-not certain Female 1 View details
c.914A>G g.153296365T>C p.Lys305Arg Missense TRD Unknown Rett syndrome-Not certain Female 4 View details
c.914_1172del259 g.153296107_153296365del259 p.Lys305fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1 View details
c.914A>C g.153296365T>G p.Lys305Thr missense TRD Unknown Rett syndrome-classical Female 1 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 247 View details
c.916C > T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-preserved speech Female 1 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 19 View details
c.917G > A g.153296362C>T p.Arg306His missense TRD Mutation associated with disease Rett syndrome-classical Female 1 View details
c.925C>T g.153296354G>A p.Arg309Trp missense TRD Unknown Not Rett synd. Male 5 View details
c.932C>T g.153296347G>A p.Thr311Met Missense C-term Unknown Rett syndrome-Not certain Female 4 View details
c.942C>T g.153296337G>A p.Ile314Ile silent C-term Silent polymorphism Not Rett synd. Male 2 View details
c.943_1140del198ins6 p.Glu315_Val380delins2 in-frame combined insertion and deletion C-term Mutation associated with disease Not Known Female 1 View details
c.948C>G g.153296331G>C p.Val316Val Silent C-term Silent polymorphism Not Known Female 3 View details
c.953A>C g.153296326T>G p.Glu318Ala Missense C-term Unknown Rett syndrome-classical Female 2 View details
c.961A>G g.153296318T>C p.Lys321Glu missense C-term Unknown Rett syndrome-classical Female 1 View details
c.962_1267delinsG g.153296012_153296317delinsC p.Lys321Serfs*13 frameshift combined insertion and deletion C-term Mutation associated with disease Not Rett synd. Female 1 View details
c.964C>G g.153296315G>C p.Pro322Ala Missense C-term Unknown Rett syndrome-Classical Female 7 View details
c.964C>T g.153296315G>A p.Pro322Ser Missense C-term Unknown Not Rett synd. Male 2 View details
c.965C>T g.153296314G>A p.Pro322Leu Missense C-term Unknown Rett syndrome-Not certain Female 9 View details
c.982C>G g.153296297G>C p.Leu328Val missense C-term Unknown Rett syndrome-not certain Female 1 View details
c.984C>T g.153296295G>A p.Leu328Leu Silent C-term Silent polymorphism Rett syndrome-Classical Female 6 View details
c.984C>A g.153296295G>T p.Leu328Leu silent C-term Silent polymorphism Not Known Male 2 View details
c.985G>A g.153296294C>T p.Gly329Ser missense C-term Polymorphism not causing disease Not Rett synd. Male 2 View details
c.989_994delinsGCATCTTCTCCTCTTT g.153296285_153296290delinsAAAGAGGAGAAGATGC p.Glu330fs Frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Classical Unknown 1 View details
c.992A>G g.153296287T>C p.Lys331Arg missense C-term Polymorphism not causing disease Rett syndrome-congenital Female 2 View details
c.994_1346del353 g.153295933_153296285del353 p.Ser332fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.994_998delAGCGG g.153296281_153296285delCCGCT p.Ser332fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 1 View details
c.996C>T g.153296283G>A p.Ser332Ser silent C-term Silent polymorphism Not Rett synd. Unknown 3 View details
c.999G>T g.153296280C>A p.Gly333Gly silent C-term Silent polymorphism Rett syndrome-not certain Female 1 View details
c.1009_1027del19 g.153296252_153296270del19 p.Lys337fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 1 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 1 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 1 View details
c.1015T>C g.153296264A>G p.Cys339Arg missense C-term Unknown Rett syndrome-not certain Female 1 View details
c.1017-?_1397+?del g.153295882_153296262del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-atypical Female 1 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 1 View details
c.1028_1158del g.153296121_153296251del p.Gly343Alafs*6 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 1 View details
c.1030_1195del166insGT g.153296084_153296249delinsAC p.Arg344fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1 View details
c.1030C>T g.153296249G>A p.Arg344Trp Missense C-term Unknown Rett syndrome-Not certain Male 3 View details
c.1030C>G g.153296249G>C p.Arg344Gly missense C-term Unknown Rett syndrome-classical Female 1 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Rett syndrome-Not certain Female 13 View details
c.1038C>G g.153296241G>C p.Ser346Arg Missense C-term Mutation associated with disease Rett syndrome-Classical Female 1 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 1 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 1 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 1 View details
c.1044-?_1442+?del g.153295837_153296235del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-atypical Female 2 View details
c.1046_1206del161 g.153296073_153296233del161 p.Ser349fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.1048_1095del48 g.153296184_153296231del48 p.Ser350_Glu365del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 1 View details
c.1048_1199del152 g.153296080_153296231del152 p.Ser350fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.1052_1200del149 g.153296079_153296227del149 p.Pro351fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 1 View details
c.1053C>G g.153296226G>C p.Pro351Pro silent C-term Silent polymorphism Not Rett synd. Male 1 View details
c.1053_1156del104 g.153296123_153296226del104 p.Lys352fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.1057_1219del163 g.153296060_153296222del163 p.Gly353fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 2 View details
c.1061_1156del96 g.153296123_153296218del96 p.Arg352_Pro385del In-frame insertion or deletion C-term Unknown Rett syndrome-Classical Female 1 View details
c.1061G>T g.153296218C>A p.Arg354Leu Missense C-term Polymorphism not causing disease Not Rett synd. Male 1 View details
c.1061G>A g.153296218C>T p.Arg354His Missense C-term Unknown Not Rett synd. Female 1 View details
c.1065C>T g.153296214G>A p.Ser355Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1 View details
c.1065C>A g.153296214G>T p.Ser355Arg missense C-term Unknown Rett syndrome-classical Female 1 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 1 View details
c.1071C>T g.153296208G>A p.Ser357Ser Silent C-term Silent polymorphism Not Rett synd. Female 2 View details
c.1072G>A g.153296207C>T p.Ala358Thr missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 5 View details
c.1075T>C g.153296204A>G p.Ser359Pro Missense C-term Polymorphism not causing disease Rett syndrome-Male variant Male 7 View details
c.1078_*2524del2908 g.153293294_153296201del2908 p.Ser360fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.1079C>A g.153296200G>T p.Ser360* Nonsense C-term Mutation associated with disease Rett syndrome-Not certain Female 1 View details
c.1081C>G g.153296198G>C p.Pro361Ala Missense C-term Unknown Not Known Female 4 View details
c.1085_1197del113 g.153296082_153296194del113 p.Pro362fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.1087A>T g.153296192T>A p.Lys363* Nonsense C-term Mutation associated with disease Not Known Female 2 View details
c.1093_1095delGAG g.153296184_153296186delCTC p.Glu365del in-frame insertion or deletion C-term Unknown Rett syndrome-classical Female 1 View details
c.1096_1201del106 g.153296078_153296183del106 p.His366fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1 View details
c.1097_*13del378 g.153295805_153296182del378 p.His366_Ser486delins22 In-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1 View details
c.1097_1203del107 g.153296076_153296182del107 p.His366fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1 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 1 View details
c.1101_1201del101 g.153296078_153296178del101 p.His367fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 2 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 1 View details
c.1104_1106del3 g.153296173_153296175del3 p.His372del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Female 1 View details
c.1105delC g.153296174delG p.His369fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2 View details
c.1105_1225del121 g.153296054_153296174del121 p.His369fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.1114C>T g.153296165G>A p.His372Tyr missense C-term Unknown Not Known Female 1 View details
c.1115_1201del87 g.153296078_153296164del87 p.His372_Ser401delinsArg In-frame insertion or deletion C-term Unknown Not Known Female 1 View details
c.1115_1326del212 g.153295953_153296164del212 p.His372fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 1 View details
c.1116_1201del86 g.153296078_153296163del86 p.His372fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 3 View details
c.1117_1203del87 g.153296076_153296162del87 p.Ser373_Ser401del in-frame insertion or deletion C-term Unknown Rett syndrome-atypical Female 1 View details
c.1118C>G g.153296161G>C p.Ser373* nonsense C-term Mutation associated with disease Not Known Female 1 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 1 View details
c.1123_1191del69 g.153296088_153296156del69 p.Ser375_Glu397del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Unknown 1 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 1 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 17 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 4 View details
c.1127C>G g.153296152G>C p.Pro376Arg Missense C-term Unknown Not Rett synd. Female 1 View details
c.1127_1137del11 g.153296142_153296152del11 p.Pro376fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 2 View details
c.1128_1179del52 g.153296100_153296151del52 p.Lys377fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1 View details
c.1129_1193del65 g.153296086_153296150del65 p.Lys377fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1 View details
c.1129_*568delinsCCGTGG g.153295250_153296150delinsCCACGG p.Lys377fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.1132_1202del71 g.153296077_153296147del71 p.Ala378fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 2 View details
c.1132G>T g.153296147C>A p.Ala378Ser missense C-term Unknown Not Rett synd. Female 2 View details
c.1132_1207del77 g.153296072_153296147del p.Ala378Leufs*6 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.1133C>T g.153296146G>A p.Ala378Val missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 5 View details
c.1133C>G g.153296146G>C p.Ala378Gly missense C-term Unknown Rett syndrome-classical Female 2 View details
c.1135_1142delCCCGTGCC g.153296137_153296144delGGCACGGG p.Pro379fs Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 1 View details
c.1135_1142del8 g.153296137_153296144del8 p.Pro379fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 2 View details
c.1137C>T g.153296142G>A p.Pro379Pro Silent C-term Silent polymorphism Not Rett synd. Female 1 View details
c.1138G>A g.153296141C>T p.Val380Met missense C-term Unknown Not Rett synd. Female 1 View details
c.1141C>G g.153296138G>C p.Pro381Ala missense C-term Polymorphism not causing disease Rett syndrome-classical Female 2 View details
c.1141C>T g.153296138G>A p.Pro381Ser missense C-term Unknown Rett syndrome-preserved speech Female 1 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 3 View details
c.1145_1194del50 g.153296085_153296134del50 p.Leu382fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Unknown 2 View details
c.1147_1174del28 g.153296105_153296132del28 p.Leu383fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 1 View details
c.1148_1193del g.153296086_153296131del p.Leu383Profs*11 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.1150_1192del43 g.153296087_153296129del43 p.Pro384fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1 View details
c.1151_1188del38 g.153296091_153296128del38 p.Pro384fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Unknown 2 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 1 View details
c.1151_1183del33 g.153296096_153296128del33 p.Pro384_Ser395delinsArg in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 1 View details
c.1151C>T g.153296128G>A p.Pro384Leu missense C-term Unknown Not Rett synd. Female 3 View details
c.1152_1195del44 g.153296084_153296127del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 4 View details
c.1152_1155del4 g.153296124_153296127del4 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 1 View details
c.1152_*29del g.153295789_153296127del p.Pro385_Ser486delinsAsnLysAsnLysGlySerCysCysLeuPheSerLeuTrpValGlyLeu in-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 1 View details
c.1152_1292del141 g.153295987_153296127del141 p.Pro385_Lys431del in-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 1 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 1 View details
c.1153_1188del36 g.153296091_153296126del36 p.Pro385_Ser396del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 1 View details
c.1153_1190del g.153296089_153296126del38 p.Pro385Glyfs*7 frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-classical Female 1 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 1 View details
c.1154_1197del44 g.153296082_153296125del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Forme fruste Unknown 6 View details
c.1155_1200del46 g.153296079_153296124del46 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 3 View details
c.1155_1183del29 g.153296096_153296124del29 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.1155_1166del12 g.153296113_153296124del12 p.Leu386_Pro389del in-frame insertion or deletion C-term Unknown Rett syndrome-atypical Female 1 View details
c.1156_1200del45 g.153296079_153296123del45 p.Leu386_Thr400del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Female 1 View details
c.1156_1172del17 g.153296107_153296123del17 p.Leu386* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2 View details
c.1156_1197del42 g.153296082_153296123del42 p.Leu386_Pro399del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3 View details
c.1156_1157dupCT g.153296122_153296123dupAG p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 1 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 47 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 30 View details
c.1157_1187del31 g.153296092_153296122del31 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 2 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 12 View details
c.1157_1191del35 g.153296088_153296122del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 5 View details
c.1157_1192del36 g.153296087_153296122del36 p.Leu386_Asp398delinsHis In-frame insertion or deletion C-term Unknown Not Known Female 1 View details
c.1157_1199del43 g.153296080_153296122del43 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 2 View details
c.1157_*944del1249 g.153294874_153296122del1249 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.1157_1184del28 g.153296095_153296122del28 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.1158_1200del43 g.153296079_153296121del43 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 2 View details
c.1158_1167del10 g.153296112_153296121del10 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2 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 1 View details
c.1158_1198del41 g.153296081_153296121del41 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 2 View details
c.1158_1186del29insCCA g.153296093_153296121delinsTGG p.Pro387Hisfs*9 frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.1159_1201del43 g.153296078_153296120del43 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1 View details
c.1159_1210del52 g.153296069_153296120del52 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 1 View details
c.1159_1458del300 g.153295821_153296120del300 p.Pro387* in-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.1159_1160ins300 p.Pro387_Pro388ins100 in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 1 View details
c.1159_1160delCCinsT g.153296119_153296120delinsA p.Pro387fs frameshift combined insertion and deletion C-term Mutation associated with disease Not Rett synd. Female 4 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 3 View details
c.1160_1200del41 g.153296079_153296119del41 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2 View details
c.1160C>T g.153296119G>A p.Pro387Leu Missense C-term Unknown Not Rett synd. Male 1 View details
c.1160_1188del29 g.153296091_153296119del29 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.1160_1180del21 g.153296099_153296119del21 p.Pro387_Glu394delinsGln in-frame insertion or deletion C-term Unknown Rett syndrome-classical Female 2 View details
c.1160_1166del7 g.153296113_153296119del7 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2 View details
c.1160_1200del41insAGGGGTGG g.153296079_153296119delinsCCACCCCT p.Pro387_Thr400delinsGlnGlyTrp in-frame combined insertion and deletion C-term Unknown Rett syndrome-classical Female 1 View details
c.1161_1400del240 g.153295879_153296118del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Not Rett synd. Female 5 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 1 View details
c.1161C>T g.153296118G>A p.Pro387Pro silent C-term Silent polymorphism Rett syndrome-Classical Female 2 View details
c.1161_1166del6 g.153296113_153296118del6 p.Pro390_Pro391del in-frame insertion or deletion C-term Unknown Not Rett synd. Female 1 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 2 View details
c.1162C>T g.153296117G>A p.Pro388Ser missense c-term Unknown Rett syndrome-Classical Female 3 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 1 View details
c.1162_1191del30 g.153296088_153296117del30 p.Pro388_Glu397del in-frame insertion or deletion C-term Unknown Rett syndrome-classical Female 2 View details
c.1162_1163delCC g.153296116_153296117delGG p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1 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 5 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 11 View details
c.1163_1216del54 g.153296063_153296116del54 p.Pro388_Pro405del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Unknown 1 View details
c.1163_*39del338 g.153295779_153296116del338 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1 View details
c.1163_1179del17 g.153296100_153296116del17 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2 View details
c.1163C>T g.153296116G>A p.Pro388Leu Missense C-term Unknown Rett syndrome-Forme fruste Female 3 View details
c.1163_1201del39 g.153296078_153296116del39 p.Pro388_Ser401delinsArg in-frame insertion or deletion C-term Unknown Not Rett synd. Female 1 View details
c.1163_1200del38 g.153296079_153296116del38 p.Pro388Glnfs*4 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-preserved speech Female 1 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 48 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 4 View details
c.1164_1172del9 g.153296107_153296115del9 p.Pro389_Pro391del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Female 1 View details
c.1164_1208del45 g.153296071_153296115del45 p.Pro389_Pro403del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Unknown 2 View details
c.1164delA g.153296115delT p.Pro389fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA g.153296095_153296115delinsTGCTCAAGTCCTGGGGCTCAG p.Pro389* frameshift combined insertion and deletion C-term Mutation associated with disease Not Rett synd. Female 2 View details
c.1164_1194del31 g.153296085_153296115del31 p.Pro391fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.1165_1233del69ins21 p.Pro389_Pro411del23ins7 In-frame combined insertion and deletion C-term Unknown Rett syndrome-Classical Female 1 View details
c.1165_1190del26 g.153296089_153296114del26 p.Pro389fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 3 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 1 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 12 View details
c.1169-?_*?del p.Pro390fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.1169-?_1170+?del g.153296109_153296110del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.1169-?_1397+?del g.153295882_153296110del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.1170_1207del38 g.153296072_153296109del38 p.Pro391* frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1 View details
c.1173_1207del35 g.153296072_153296106del35 p.Glu392* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.1176G>A g.153296103C>T p.Glu392Glu Silent C-term Silent polymorphism Rett syndrome-Classical Female 1 View details
c.1180G>A g.153296099C>T p.Glu394Lys missense C-term Polymorphism not causing disease Not Rett synd. Male 4 View details
c.1180_1181insT g.153296098_153296099insA p.Glu394Valfs*11 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 48 View details
c.1189G>T g.153296090C>A p.Glu397* nonsense C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.1190dupA g.153296089dupT p.Asp398fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Unknown 1 View details
c.1193A>C g.153296086T>G p.Asp398Ala missense C-term Polymorphism not causing disease Not Rett synd. Male 1 View details
c.1194_1195insT g.153296084_153296085insA p.Pro399fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 3 View details
c.1196C>T g.153296083G>A p.Pro399Leu Missense C-term Polymorphism not causing disease Not Rett synd. Male 4 View details
c.1196_1266del71 g.153296013_153296083del71 p.Pro399fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.1197C>T g.153296082G>A p.Pro399Pro Silent C-term Silent polymorphism Rett syndrome-Not certain Unknown 8 View details
c.1197dupC g.153296082dupG p.Thr400fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3 View details
c.1200dupC g.153296079dupG p.Ser401fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1 View details
c.1202G>A g.153296077C>T p.Ser401Asn Missense C-term Polymorphism not causing disease Not Rett synd. Male 4 View details
c.1202dupG g.153296077dupC p.Ser401fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
c.1205C>T g.153296074G>A p.Pro402Leu Missense C-term Polymorphism not causing disease Not Rett synd. Male 5 View details
c.1205_1206insT g.153296073_153296074insA p.Glu404* nonsense C-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.1206C>T g.153296073G>A p.Pro402Pro Silent C-term Silent polymorphism Not Rett synd. Female 5 View details
c.1210G>A g.153296069C>T p.Glu404Lys missense C-term Unknown Rett syndrome-classical Female 1 View details
c.1214C>T g.153296065G>A p.Pro405Leu missense C-term Unknown Not Rett synd. Male 4 View details
c.1214_1230del17 g.153296049_153296065del17 p.Pro405fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1 View details
c.1215C>T g.153296064G>A p.Pro405Pro Silent C-term Silent polymorphism Not Rett synd. Female 3 View details
c.1216C>T g.153296063G>A p.Gln406* Nonsense C-term Mutation associated with disease Not Rett synd. Male 6 View details
c.1223_1265del43 g.153296014_153296056del43 p.Leu408fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 1 View details
MECP2_e1: c.1225G>A g.153296090C>T p.Glu409Lys missense C-term Polymorphism not causing disease Not Rett synd. Female 1 View details
c.1229G>A g.153296050C>T p.Ser410Asn Missense C-term Unknown Rett syndrome-Classical Female 1 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Classical Unknown 30 View details
c.1233_1243del11 g.153296036_153296046del11 p.Ser411fs frameshift insertion or deletion C-term Unknown Not Rett synd. Male 2 View details
c.1234G>A g.153296045C>T p.Val412Ile Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 5 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.1239C>T g.153296040G>A p.Cys413Cys Silent C-term Silent polymorphism Not Known Female 2 View details
c.1250A>T g.153296029T>A p.Lys417Met missense C-term Unknown Not Rett synd. Male 3 View details
c.1255C>T g.153296024G>A p.Pro419Ser missense C-term Unknown Not Rett synd. Female 1 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 1 View details
c.1266C>T g.153296013G>A p.Gly422Gly Silent C-term Silent polymorphism Rett syndrome-Not certain Female 4 View details
c.1271_1416del146 g.153295863_153296008del146 p.Leu424fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1 View details
c.1276_*113del299ins3 p.Ser426fs frameshift combined insertion and deletion C-term Mutation associated with disease Not Known Female 1 View details
c.1278C>T g.153296001G>A p.Ser426Ser silent C-term Silent polymorphism Rett syndrome-atypical Female 1 View details
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 7 View details
c.1284C>T g.153295995G>A p.Gly428Gly silent C-term Silent polymorphism Rett syndrome-classical Female 1 View details
c.1288C>T g.153295991G>A p.Pro430Ser missense C-term Polymorphism not causing disease Rett syndrome-male variant Male 5 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 2 View details
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Rett synd. Male 7 View details
c.1316C>T g.153295963G>A p.Ala439Val missense C-term Polymorphism not causing disease Not Rett synd. Female 1 View details
c.1320dupT g.153295959dupA p.Ala441fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 1 View details
c.1324_1364del41 g.153295915_153295955del41 p.Thr442fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2 View details
c.1324A>G g.153295955T>C p.Thr442Ala Missense C-term Unknown Not Known Female 1 View details
c.1326C>T g.153295953G>A p.Thr442Thr Silent C-term Silent polymorphism Not Rett synd. Female 4 View details
c.1327G>A g.153295952C>T p.Ala443Thr missense C-term Unknown Not Rett synd. Male 2 View details
c.1330G>A g.153295949C>T p.Ala444Thr Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 14 View details
c.1330_1342del13 g.153295937_153295949del13 p.Ala444fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1 View details
c.1335G>A g.153295944C>T p.Thr445Thr Silent C-term Silent polymorphism Not Rett synd. Female 10 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 1 View details
c.1338_1354del g.153295925_153295941del p.Ala447fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1 View details
c.1339G>A g.153295940C>T p.Ala447Thr missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 5 View details
c.1340C>T g.153295939G>A p.Ala447Val Missense C-term Unknown Rett syndrome-Not certain Female 1 View details
c.1357C>T g.153295922G>A p.Arg453* Nonsense C-term Mutation associated with disease Rett syndrome-Preserved speech Female 2 View details
c.1358G>A g.153295921C>T p.Arg453Gln Missense C-term Unknown Not Rett synd. Male 2 View details
c.1363G>T g.153295916C>A p.Glu455* nonsense C-term Mutation associated with disease Rett syndrome-classical Female 1 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 1 View details
c.1372C>T g.153295907G>A p.Arg458Cys Missense C-term Polymorphism not causing disease Not Known Female 2 View details
c.1373G>A g.153295906C>T p.Arg458His missense c-term Polymorphism not causing disease Not Rett synd. Male 1 View details
c.1384-1385del GT g.153295894_153295895delAC p.Val462Phefs*24 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.1396-?_1397+?del g.153295882_153295883del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-classical Female 2 View details
c.1403_1408del6 g.153295871_153295876del6 p.Arg468_Pro469del In-frame insertion or deletion C-term Unknown Rett syndrome-Classical Female 1 View details
c.1404G>A g.153295875C>T p.Arg468Arg Silent C-term Silent polymorphism Not Known Male 1 View details
c.1408_1411del4insTG g.153295868_153295871delinsCA p.Asn470Trpfs*16 combined frameshift insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 1 View details
Mecp2_e1:c.1409G > A g.153295906C>T p.Arg470His missense C-term Unknown Not Rett synd. Male 1 View details
c.1410_1411delCA g.153295868_153295869delTG p.Asn470Lysfs*16 frameshift insertion or deletion Mutation associated with disease Rett syndrome-atypical Male 4 View details
c.1415_1416delAG g.153295863_153295864delCT p.Glu472fs frameshift insertion ord deletion C-term Mutation associated with disease Not Rett synd. Male 1 View details
c.1430G>C g.153295849C>G p.Ser477Thr Missense C-term Polymorphism not causing disease Not Rett synd. Male 3 View details
c.1433G>A g.153295846C>T p.Arg478Gln missense C-term Polymorphism not causing disease Not Rett synd. Female 1 View details
c.1436C>T g.153295843G>A p.Thr479Met missense C-term Polymorphism not causing disease Rett syndrome-NK Female 3 View details
c.1437G>A g.153295842C>T p.Thr479Thr silent C-term Silent polymorphism Rett syndrome-atypical Female 1 View details
c.1438C>T g.153295841G>A p.Pro480Ser missense C-term Polymorphism not causing disease Not Rett synd. Male 3 View details
c.1441G>A g.153295838C>T p.Val481Met Missense C-term Unknown Rett syndrome-Not certain Female 2 View details
c.1446C>T g.153295833G>A p.Thr482Thr Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1 View details
c.1449G>A g.153295830C>T Missense C-term Polymorphism not causing disease Not Rett synd. Female 1 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 1 View details
c.1450_1453delAGAG g.153295826_153295829delCTCT p.Arg484fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.1451G>C g.153295828C>G p.Arg484Thr missense C-term Polymorphism not causing disease Not Rett synd. Male 1 View details
c.1452_1453dup g.153295826_153295827dup p.Val485fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 1 View details
MECP2_e1: c.1453G>C g.153295862C>G p.Glu485Gln missense C-term Unknown Not Rett synd. Male 1 View details
c.1454_1457del4 g.153295822_153295825del4 p.Val485fs Frameshift insertion or deletion C-term Unknown Rett syndrome-Not certain Female 2 View details
c.1455_1456dupTA g.153295823_153295824dupTA p.Ser486fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 1 View details
c.1461A>C g.153295818T>G p.*487Cysext*27 Nonstop C-term Unknown Rett syndrome-Classical Female 1 View details
c.1461A>G g.153295818T>C p.*487Trpext*27 Nonstop C-term Unknown Not Known Female 1 View details

Displaying 928 variants


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