MECP2 Variant List
Nucleotide changeNM_004992.3 | Genomic name NC_000023.10: | Protein changeNP_004983.1 | Type of sequence change | Domain change | Pathogenicity | Phenotype | Frequency | View record |
---|---|---|---|---|---|---|---|---|
c.1104_1106del3 | g.153296173_153296175del3 | p.His372del | In-frame insertion or deletion | C-term | Unknown | Rett syndrome-Not certain | 1 | View details |
c.289G>T | g.153297746C>A | p.Asp97Tyr | Missense | MBD | Unknown | Rett syndrome-Not certain | 4 | View details |
c.398G>A | g.153296881C>T | p.Arg133His | Missense | MBD | Unknown | Rett syndrome-Not certain | 8 | View details |
c.914A>G | g.153296365T>C | p.Lys305Arg | Missense | TRD | Unknown | Rett syndrome-Not certain | 4 | View details |
c.1454_1457del4 | g.153295822_153295825del4 | p.Val485fs | Frameshift insertion or deletion | C-term | Unknown | Rett syndrome-Not certain | 2 | View details |
c.965C>T | g.153296314G>A | p.Pro322Leu | Missense | C-term | Unknown | Rett syndrome-Not certain | 9 | View details |
c.904C>G | g.153296375G>C | p.Pro302Ala | Missense | TRD | Unknown | Rett syndrome-Preserved speech | 4 | View details |
c.[965C>T(;)999G>T] | g.[153296314G>A;153296280C>A] | p.[Pro322Leu(;)Gly333Gly] | Missense, silent | C-term | Unknown | Rett syndrome-Not certain | 1 | View details |
c.905C>A | g.153296374G>T | p.Pro302His | Missense | TRD | Unknown | Rett syndrome-Not certain | 3 | View details |
c.372G>C | g.153297663C>G | p.Leu124Phe | Missense | MBD | Unknown | Rett syndrome-Classical | 2 | View details |
c.302C>G | g.153297733G>C | p.Pro101Arg | Missense | MBD | Unknown | Rett syndrome-Not certain | 5 | View details |
c.378-61C>G | g.153296962G>C | intronic variation | Intronic variation | Intronic | Unknown | Not Rett synd. | 1 | View details |
c.419C>T | g.153296860G>A | p.Ala140Val | Missense | MBD | Unknown | Not Rett synd. | 29 | View details |
c.481G>T | g.153296798C>A | p.Gly161Trp | Missense | MBD | Unknown | Rett syndrome-Not certain | 1 | View details |
c.467A>G | g.153296812T>C | p.Asp156Gly | Missense | MBD | Unknown | Rett syndrome-Not certain | 2 | View details |
c.1156_1200del45 | g.153296079_153296123del45 | p.Leu386_Thr400del | In-frame insertion or deletion | C-term | Unknown | Rett syndrome-Not certain | 1 | View details |
c.380C>T | g.153296899G>A | p.Pro127Leu | Missense | MBD | Unknown | Rett syndrome-Preserved speech | 5 | View details |
c.398G>T | g.153296881C>A | p.Arg133Leu | Missense | MBD | Unknown | Rett syndrome-Classical | 1 | View details |
c.1165_1233del69ins21 | p.Pro389_Pro411del23ins7 | In-frame combined insertion and deletion | C-term | Unknown | Rett syndrome-Classical | 1 | View details | |
c.1403_1408del6 | g.153295871_153295876del6 | p.Arg468_Pro469del | In-frame insertion or deletion | C-term | Unknown | Rett syndrome-Classical | 1 | View details |
c.27-8C>G | g.153298016G>C | intronic variation | Intronic variation | Intronic | Unknown | Rett syndrome-Classical | 2 | View details |
c.-15C>T | g.153357682G>A | 5'UTR variation | 5'UTR variation | 5'UTR | Unknown | Not Rett synd. | 2 | View details |
c.1461A>C | g.153295818T>G | p.*487Cysext*27 | Nonstop | C-term | Unknown | Rett syndrome-Classical | 1 | View details |
c.1163_1216del54 | g.153296063_153296116del54 | p.Pro388_Pro405del | In-frame insertion or deletion | C-term | Unknown | Rett syndrome-Not certain | 1 | View details |
c.905C>T | g.153296374G>A | p.Pro302Leu | Missense | TRD | Unknown | Rett syndrome-Classical | 6 | View details |
c.463T>A | g.153296816A>T | p.Phe155Ile | Missense | MBD | Unknown | Rett syndrome-Not certain | 1 | View details |
c.291C>A | g.153297744G>T | p.Asp97Glu | Missense | MBD | Unknown | Rett syndrome-Not certain | 2 | View details |
c.1123_1191del69 | g.153296088_153296156del69 | p.Ser375_Glu397del | In-frame insertion or deletion | C-term | Unknown | Rett syndrome-Not certain | 1 | View details |
c.1161_1400del240 | g.153295879_153296118del240 | p.Pro388_Pro467del | In-frame insertion or deletion | C-term | Unknown | Not Rett synd. | 5 | View details |
c.1358G>A | g.153295921C>T | p.Arg453Gln | Missense | C-term | Unknown | Not Rett synd. | 2 | View details |
c.850A>G | g.153296429T>C | p.Lys284Glu | Missense | TRD | Unknown | Not Rett synd. | 1 | View details |
c.1160C>T | g.153296119G>A | p.Pro387Leu | Missense | C-term | Unknown | Not Rett synd. | 1 | View details |
c.257C>G | g.153297778G>C | p.Ser86Cys | Missense | MBD | Unknown | Rett syndrome-Not certain | 1 | View details |
c.298C>G | g.153297737G>C | p.Leu100Val | Missense | MBD | Unknown | Rett syndrome-Not certain | 7 | View details |
c.859G>C | g.153296420C>G | p.Ala287Pro | Missense | TRD | Unknown | Rett syndrome-Not certain | 1 | View details |
c.871T>G | g.153296408A>C | p.Ser291Ala | Missense | TRD | Unknown | Rett syndrome-Not certain | 1 | View details |
c.1164_1172del9 | g.153296107_153296115del9 | p.Pro389_Pro391del | In-frame insertion or deletion | C-term | Unknown | Rett syndrome-Not certain | 1 | View details |
c.[=/398G>A] | p.[=/Arg133His] | Missense | MBD | Unknown | Rett syndrome-Male variant | 1 | View details | |
c.1061_1156del96 | g.153296123_153296218del96 | p.Arg352_Pro385del | In-frame insertion or deletion | C-term | Unknown | Rett syndrome-Classical | 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 | 1 | View details |
c.468C>G | g.153296811G>C | p.Asp156Glu | Missense | MBD | Unknown | Rett syndrome-Not certain | 15 | View details |
c.635_655del21 | g.153296624_153296644del21 | p.Val212_Lys219delinsGlu | In-frame insertion or deletion | TRD | Unknown | Rett syndrome-Not certain | 1 | View details |
c.331A>G | g.153297704T>C | p.Arg111Gly | Missense | MBD | Unknown | Rett syndrome-Not certain | 1 | View details |
c.403A>G | g.153296876T>C | p.Lys135Glu | Missense | MBD | Unknown | Rett syndrome-Not certain | 8 | View details |
c.629A>T | g.153296650T>A | p.Lys210Ile | Missense | TRD | Unknown | Rett syndrome-Not certain | 1 | View details |
c.377+2T>G | g.153297656A>C | intronic variation | Intronic variation | Intronic | Unknown | Rett syndrome-Not certain | 1 | View details |
c.1164_1208del45 | g.153296071_153296115del45 | p.Pro389_Pro403del | In-frame insertion or deletion | C-term | Unknown | Rett syndrome-Not certain | 2 | View details |
c.517C>G | g.153296762G>C | p.Pro173Ala | Missense | Inter-domain region | Unknown | Rett syndrome-Not certain | 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 | 1 | View details |
c.377+6_377+9del | g.153297649_153297652del | intronic variation | Intronic variation | Intronic | Unknown | Not Rett synd. | 1 | View details |
c.898G>A | g.153296381C>T | p.Val300Ile | Missense | TRD | Unknown | Rett syndrome-Classical | 3 | View details |
c.964C>G | g.153296315G>C | p.Pro322Ala | Missense | C-term | Unknown | Rett syndrome-Classical | 7 | View details |
c.301C>T | g.153297734G>A | p.Pro101Ser | Missense | MBD | Unknown | Rett syndrome-Classical | 4 | View details |
c.472A>G | g.153296807T>C | p.Thr158Ala | Missense | MBD | Unknown | Rett syndrome-Preserved speech | 2 | View details |
c.1030C>T | g.153296249G>A | p.Arg344Trp | Missense | C-term | Unknown | Rett syndrome-Not certain | 3 | View details |
c.542C>T | g.153296737G>A | p.Ala181Val | Missense | Inter-domain region | Unknown | Not Rett synd. | 2 | View details |
c.1315G>A | g.153295964C>T | p.Ala439Thr | Missense | C-term | Unknown | Not Rett synd. | 7 | View details |
c.-156C>T | g.153363118G>A | p.(=) | missense | N-term | Unknown | Rett syndrome-classical | 4 | View details |
c.-160A>T | g.153363122T>A | p.(=) | missense | N-term | Unknown | Rett syndrome-classical | 2 | View details |
c.469T>A | g.153296810A>T | p.Phe157Ile | Missense | MBD | Unknown | Rett syndrome-Not certain | 3 | View details |
c.1441G>A | g.153295838C>T | p.Val481Met | Missense | C-term | Unknown | Rett syndrome-Not certain | 2 | View details |
c.1340C>T | g.153295939G>A | p.Ala447Val | Missense | C-term | Unknown | Rett syndrome-Not certain | 1 | View details |
c.674C>T | g.153296605G>A | p.Pro225Leu | Missense | TRD | Unknown | Rett syndrome-Male variant | 2 | View details |
c.1461A>G | g.153295818T>C | p.*487Trpext*27 | Nonstop | C-term | Unknown | Not Known | 1 | View details |
c.953A>C | g.153296326T>G | p.Glu318Ala | Missense | C-term | Unknown | Rett syndrome-classical | 2 | View details |
c.401C>T | g.153296878G>A | p.Ser134Phe | Missense | MBD | Unknown | Not Known | 5 | View details |
c.1157_1192del36 | g.153296087_153296122del36 | p.Leu386_Asp398delinsHis | In-frame insertion or deletion | C-term | Unknown | Not Known | 1 | View details |
c.1115_1201del87 | g.153296078_153296164del87 | p.His372_Ser401delinsArg | In-frame insertion or deletion | C-term | Unknown | Not Known | 1 | View details |
c.397C>G | g.153296882G>C | p.Arg133Gly | Missense | MBD | Unknown | Not Known | 2 | View details |
c.932C>T | g.153296347G>A | p.Thr311Met | Missense | C-term | Unknown | Rett syndrome-Not certain | 4 | 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 | 1 | View details |
c.341G>C | g.153297694C>G | p.Gly114Ala | Missense | MBD | Unknown | Rett syndrome-Not certain | 1 | View details |
c.*122delT | g.153295696delA | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Rett syndrome-Not certain | 1 | View details |
c.-167_-99del | g.153363061_153363129del | p.(=) | frameshift insertion or deletion | N-term | Unknown | Rett syndrome-Not certain | 6 | View details |
c.299T>G | g.153297736A>C | p.Leu100Arg | Missense | MBD | Unknown | Rett syndrome-classical | 1 | View details |
c.482G>T | g.153296797C>A | p.Gly161Val | Missense | MBD | Unknown | Rett syndrome-atypical | 2 | View details |
c.-168-?_*?dup | p.Met1? | In-frame insertion or deletion | N-term | Unknown | Not Rett synd. | 17 | 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. | 1 | View details |
c.910A>G | g.153296369T>C | p.Lys304Glu | Missense | TRD | Unknown | Not Known | 2 | View details |
c.1324A>G | g.153295955T>C | p.Thr442Ala | Missense | C-term | Unknown | Not Known | 1 | View details |
c.479C>G | g.153296800G>C | p.Thr160Ser | Missense | MBD | Unknown | Not Known | 2 | View details |
c.362A>G | g.153297673T>C | p.Asp121Gly | Missense | MBD | Unknown | Not Known | 1 | View details |
c.464T>G | g.153296815A>C | p.Phe155Cys | Missense | MBD | Unknown | Rett syndrome-Atypical | 2 | View details |
complex rearrangement | complex rearrangement | Not known | Not known | Unknown | Rett syndrome-Classical | 1 | View details | |
c.27-9A>G | g.153298017T>C | intronic variation | Intronic variation | Intronic | Unknown | Rett syndrome-Classical | 1 | View details |
c.1229G>A | g.153296050C>T | p.Ser410Asn | Missense | C-term | Unknown | Rett syndrome-Classical | 1 | View details |
c.386G>T | g.153296893C>A | p.Gly129Val | Missense | MBD | Unknown | Not Known | 2 | View details |
c.277C>T | g.153297758G>A | p.Pro93Ser | Missense | MBD | Unknown | Rett syndrome-Classical | 1 | View details |
c.215C>T | g.153297820G>A | p.Pro72Leu | Missense | N-term | Unknown | Not Known | 1 | View details |
c.155A>G | g.153297880T>C | p.His52Arg | Missense | N-term | Unknown | Not Rett synd. | 1 | View details |
c.1081C>G | g.153296198G>C | p.Pro361Ala | Missense | C-term | Unknown | Not Known | 4 | View details |
c.-140_-138dup3 | g.153363100_153363102dup3 | p.(=) | In-frame insertion or deletion | N-term | Unknown | Not Known | 1 | View details |
c.316C>G | g.153297719G>C | p.Arg106Gly | Missense | MBD | Unknown | Rett syndrome-Classical | 5 | View details |
c.1061G>A | g.153296218C>T | p.Arg354His | Missense | C-term | Unknown | Not Rett synd. | 1 | View details |
c.1127C>G | g.153296152G>C | p.Pro376Arg | Missense | C-term | Unknown | Not Rett synd. | 1 | View details |
c.*177G>C | g.153295641C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd. | 2 | View details |
c.*5348T>C | g.153290470A>G | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd. | 2 | View details |
c.1163C>T | g.153296116G>A | p.Pro388Leu | Missense | C-term | Unknown | Rett syndrome-Forme fruste | 3 | View details |
c.317G>T | g.153297718C>A | p.Arg106Leu | Missense | MBD | Unknown | Rett syndrome-Classical | 1 | View details |
c.422A>G | g.153296857T>C | p.Tyr141Cys | Missense | MBD | Unknown | Rett syndrome-Atypical | 5 | View details |
c.964C>T | g.153296315G>A | p.Pro322Ser | Missense | C-term | Unknown | Not Rett synd. | 2 | View details |
c.-206_-205delGC | g.153363167_153363168delGC | p.(=) | 5'UTR variation | 5'UTR | Unknown | Not Rett synd. | 1 | View details |
c.-187_-186delAG | g.153363148_153363149delCT | p.(=) | 5'UTR variation | 5'UTR | Unknown | Not Rett synd. | 1 | View details |
c.-187_-186delinsTT | g.153363148_153363149delinsAA | p.(=) | 5'UTR variation | 5'UTR | Unknown | Not Rett synd. | 1 | View details |
c.-146_-138dup9 | g.153363100_153363108dup9 | p.(=) | in-frame insertion or deletion | N-term | Unknown | Not Rett synd. | 2 | View details |
c.-143_-138del6 | g.153363100_153363105del6 | p.(=) | in-frame insertion or deletion | N-term | Unknown | Not Rett synd. | 1 | View details |
c.-112G>A | g.153363074C>T | p.(=) | missense | N-term | Unknown | Not Rett synd. | 1 | View details |
c.323T>A | g.153297712A>T | p.Leu108His | missense | MBD | Unknown | Rett syndrome-Classical | 1 | View details |
c.904C>T | g.153296375G>A | p.Pro302Ser | missense | TRD | Unknown | Rett syndrome-Classical | 1 | View details |
c.1162C>T | g.153296117G>A | p.Pro388Ser | missense | c-term | Unknown | Rett syndrome-Classical | 3 | View details |
c.679C>G | g.153296600G>C | p.Gln227Glu | missense | TRD | Unknown | Not Rett synd. | 1 | View details |
c.27-55G>A | g.153298063C>T | intronic variation | intronic variation | intronic | Unknown | Not Rett synd. | 1 | View details |
c.377+18C>G | g.153297640G>C | intronic variation | intronic variation | intronic | Unknown | Not Rett synd. | 1 | View details |
c.617G>C | g.153296662C>G | p.Gly206Ala | missense | inter-domain region | Unknown | Not Rett synd. | 2 | View details |
c.*204G>A | g.153295614C>T | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd. | 1 | View details |
c.*371G>C | g.153295447C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd. | 1 | View details |
c.*544G>A | g.153295274C>T | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd. | 1 | View details |
c.*554G>A | g.153295264C>T | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd. | 1 | View details |
c.*767G>T | g.153295051C>A | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd. | 1 | View details |
c.*861T>G | g.153294957A>C | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd. | 1 | View details |
c.*1368C>A | g.153294450G>T | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd. | 1 | View details |
c.*2556T>A | g.153293262A>T | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd. | 1 | View details |
c.*2657G>A | g.153293161C>T | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd. | 1 | View details |
c.*2706G>A | g.153293112C>T | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd. | 1 | View details |
c.*2956G>A | g.153292862C>T | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd. | 1 | View details |
c.*3658C>T | g.153292160G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd. | 1 | View details |
c.377+24C>A | g.153297634G>T | intronic variation | intronic variation | intronic | Unknown | Not Rett synd. | 3 | View details |
c.514C>T | g.153296765G>A | p.Pro172Ser | missense | inter-domain region | Unknown | Not Rett synd. | 2 | View details |
c.1214C>T | g.153296065G>A | p.Pro405Leu | missense | C-term | Unknown | Not Rett synd. | 4 | View details |
c.1250A>T | g.153296029T>A | p.Lys417Met | missense | C-term | Unknown | Not Rett synd. | 3 | View details |
c.[26+22C>G(;)468C>G] | g.[153357620G>C;153296811G>C] | "intronic variation, p.Asp156Glu" | missense | MBD | Unknown | Rett syndrome-classical | 1 | View details |
c.482G>A | g.153296797C>T | p.Gly161Glu | missense | MBD | Unknown | Rett syndrome-classical | 1 | View details |
c.28G>C | g.153298007C>G | p.Glu10Gln | missense | N-term | Unknown | Rett syndrome-forme fruste | 1 | View details |
c.383A>C | g.153296896T>G | p.Gln128Pro | missense | MBD | Unknown | Rett syndrome-late regression | 1 | View details |
c.1162_1191del30 | g.153296088_153296117del30 | p.Pro388_Glu397del | in-frame insertion or deletion | C-term | Unknown | Rett syndrome-classical | 2 | View details |
c.1160_1180del21 | g.153296099_153296119del21 | p.Pro387_Glu394delinsGln | in-frame insertion or deletion | C-term | Unknown | Rett syndrome-classical | 2 | View details |
c.452A>G | g.153296827T>C | p.Asp151Gly | missense | MBD | Unknown | Rett syndrome-atypical | 2 | View details |
c.909C>G | g.153296370G>C | p.Ile303Met | missense | TRD | Unknown | Not Rett synd. | 2 | View details |
c.836C>T | g.153296443G>A | p.Ala279Val | missense | TRD | Unknown | Rett syndrome-classical | 3 | View details |
c.[834C>T(;) 965C>T] | g.[153296445G>A;153296314G>A] | p.[Ala278Ala(;) Pro322Leu] | silent, missense | TRD, C-term | Unknown | Rett syndrome-classical | 1 | View details |
c.908T>G | g.153296371A>C | p.Ile303Ser | missense | TRD | Unknown | Rett syndrome-not certain | 1 | View details |
c.982C>G | g.153296297G>C | p.Leu328Val | missense | C-term | Unknown | Rett syndrome-not certain | 1 | View details |
c.1-?dup | g.153357667dup | p.Met1? | large duplication | N-term | Unknown | Rett syndrome-not certain | 1 | View details |
c.1-?_26+?dup | g.153357642_153357667dup | p.Met1? | large duplication | N-term | Unknown | Rett syndrome-not certain | 1 | View details |
c.1156_1197del42 | g.153296082_153296123del42 | p.Leu386_Pro399del | in-frame insertion or deletion | C-term | Unknown | Rett syndrome-not certain | 3 | View details |
c.1159_1160ins300 | p.Pro387_Pro388ins100 | in-frame insertion or deletion | C-term | Unknown | Rett syndrome-not certain | 1 | View details | |
c.310T>C | g.153297725A>G | p.Trp104Arg | missense | MBD | Unknown | Rett syndrome-not certain | 1 | View details |
c.1048_1095del48 | g.153296184_153296231del48 | p.Ser350_Glu365del | in-frame insertion or deletion | C-term | Unknown | Rett syndrome-not certain | 1 | View details |
c.364G>A | g.153297671C>T | p.Val122Met | missense | MBD | Unknown | Rett syndrome-not certain | 1 | View details |
c.[380C>T];[380C>T] | p.[Pro127Leu];[Pro127Leu] | missense | MBD | Unknown | Rett syndrome-not certain | 1 | View details | |
c.913A>G | g.153296366T>C | p.Lys305Glu | missense | TRD | Unknown | Rett syndrome-not certain | 1 | View details |
c.1015T>C | g.153296264A>G | p.Cys339Arg | missense | C-term | Unknown | Rett syndrome-not certain | 1 | View details |
c.-119_-114dupAGGAGG | g.153363076_153363081dupCCTCCT | p.(=) | in-frame insertion or deletion | N-term | Unknown | Rett syndrome-not certain | 1 | View details |
c.1151_1183del33 | g.153296096_153296128del33 | p.Pro384_Ser395delinsArg | in-frame insertion or deletion | C-term | Unknown | Rett syndrome-not certain | 1 | View details |
c.392C>A | g.153296887G>T | p.Ala131Asp | missense | MBD | Unknown | Rett syndrome-classical | 2 | View details |
c.467A>C | g.153296812T>G | p.Asp156Ala | missense | MBD | Unknown | Rett syndrome-classical | 1 | View details |
c.904C>A | g.153296375G>T | p.Pro302Thr | missense | TRD | Unknown | Rett syndrome-classical | 1 | View details |
c.372G>T | g.153297663C>A | p.Leu124Phe | missense | MBD | Unknown | Rett syndrome-classical | 1 | View details |
c.-99+1G>A | g.153363060C>T | intronic variant | intronic variation | intronic | Unknown | Rett syndrome-classical | 1 | View details |
c.631-?_657+?dup | g.153296622_153296648dup | p.? | exonic duplication | MBD | Unknown | Rett syndrome-preserved speech | 1 | View details |
c.358T>G | g.153297677A>C | p.Tyr120Asp | missense | MBD | Unknown | Rett syndrome-not certain | 1 | View details |
c.-160A>G | g.153363122T>C | p.(=) | missense | N-term | Unknown | Rett syndrome-not certain | 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 | 1 | View details |
c.925C>T | g.153296354G>A | p.Arg309Trp | missense | TRD | Unknown | Not Rett synd. | 5 | View details |
c.471C>G | g.153296808G>C | p.Phe157Leu | missense | MBD | Unknown | Rett syndrome-classical | 1 | View details |
c.365T>C | g.153297670A>G | p.Val122Ala | missense | MBD | Unknown | Not Rett synd. | 3 | View details |
c.1138G>A | g.153296141C>T | p.Val380Met | missense | C-term | Unknown | Not Rett synd. | 1 | View details |
c.377A>G | g.153297658T>C | p.Asn126Ser | missense | MBD | Unknown | Not Rett synd. | 1 | View details |
c.1133C>G | g.153296146G>C | p.Ala378Gly | missense | C-term | Unknown | Rett syndrome-classical | 2 | View details |
c.1163_1201del39 | g.153296078_153296116del39 | p.Pro388_Ser401delinsArg | in-frame insertion or deletion | C-term | Unknown | Not Rett synd. | 1 | View details |
c.400T>C | g.153296879A>G | p.Ser134Pro | missense | MBD | Unknown | Rett syndrome-Classical | 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 | 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 | 1 | View details |
c.*92C>G | g.153295726G>C | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Rett syndrome-classical | 1 | View details |
c.378-14G>A | g.153296915C>T | intronic variation | intronic variation | intronic | Unknown | Rett syndrome-Classical | 1 | View details |
c.900_908del | g.153296371_153296379del | p.Leu301_Ile303del | in-frame insertion or deletion | TRD | Unknown | Rett syndrome-forme fruste | 1 | View details |
c.153C>G | g.153297882G>C | p.His51Gln | missense | N-term | Unknown | Not Rett synd. | 2 | View details |
c.413T>C | g.153296866A>G | p.Leu138Ser | missense | MBD | Unknown | Rett syndrome-classical | 1 | View details |
c.308G>A | g.153297727C>T | p.Gly103Asp | missense | MBD | Unknown | Rett syndrome-atypical | 1 | View details |
c.224C>T | g.153297811G>A | p. Pro75Leu | missense | N-term | Unknown | Not Known | 1 | View details |
c.518C>G | g.153296761G>C | p.Pro173Arg | missense | inter-domain region | Unknown | Not Known | 4 | View details |
c.857A>G | g.153296422T>C | p.Lys286Arg | missense | TRD | Unknown | Not Known | 1 | View details |
c.911A>G | g.153296368T>C | p.Lys304Arg | missense | TRD | Unknown | Not Known | 1 | View details |
c.596C>A | g.153296683G>T | p.Pro199His | missense | inter-domain region | Unknown | Not Rett synd. | 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 | 1 | View details |
c.1065C>A | g.153296214G>T | p.Ser355Arg | missense | C-term | Unknown | Rett syndrome-classical | 1 | View details |
c.1030C>G | g.153296249G>C | p.Arg344Gly | missense | C-term | Unknown | Rett syndrome-classical | 1 | View details |
c.1093_1095delGAG | g.153296184_153296186delCTC | p.Glu365del | in-frame insertion or deletion | C-term | Unknown | Rett syndrome-classical | 1 | View details |
c.1117_1203del87 | g.153296076_153296162del87 | p.Ser373_Ser401del | in-frame insertion or deletion | C-term | Unknown | Rett syndrome-atypical | 1 | View details |
c.1160_1200del41insAGGGGTGG | g.153296079_153296119delinsCCACCCCT | p.Pro387_Thr400delinsGlnGlyTrp | in-frame combined insertion and deletion | C-term | Unknown | Rett syndrome-classical | 1 | View details |
c.1161_1166del6 | g.153296113_153296118del6 | p.Pro390_Pro391del | in-frame insertion or deletion | C-term | Unknown | Not Rett synd. | 1 | View details |
c.1151C>T | g.153296128G>A | p.Pro384Leu | missense | C-term | Unknown | Not Rett synd. | 3 | View details |
c.1327G>A | g.153295952C>T | p.Ala443Thr | missense | C-term | Unknown | Not Rett synd. | 2 | View details |
c.1153_1188del36 | g.153296091_153296126del36 | p.Pro385_Ser396del | in-frame insertion or deletion | C-term | Unknown | Rett syndrome-not certain | 1 | View details |
c.1233_1243del11 | g.153296036_153296046del11 | p.Ser411fs | frameshift insertion or deletion | C-term | Unknown | Not Rett synd. | 2 | View details |
c.1155_1166del12 | g.153296113_153296124del12 | p.Leu386_Pro389del | in-frame insertion or deletion | C-term | Unknown | Rett syndrome-atypical | 1 | View details |
c.*14G>A | g.153295804C>T | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Rett syndrome-not certain | 3 | 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. | 1 | View details |
c.605G>A | g.153296674C>T | p.Ala202His | Missense | Inter-domain | Unknown | Rett syndrome-atypical | 1 | View details |
c.377A>T | g.153297658T>A | p.Asn126Ile | missense | MBD | Unknown | Not Rett synd. | 1 | View details |
c.914A>C | g.153296365T>G | p.Lys305Thr | missense | TRD | Unknown | Rett syndrome-classical | 1 | View details |
c.961A>G | g.153296318T>C | p.Lys321Glu | missense | C-term | Unknown | Rett syndrome-classical | 1 | View details |
c.1141C>T | g.153296138G>A | p.Pro381Ser | missense | C-term | Unknown | Rett syndrome-preserved speech | 1 | View details |
c.535C>T | g.153296744G>A | p.Pro179Ser | missense | inter-domain | Unknown | Not Rett synd. | 1 | View details |
c.1132G>T | g.153296147C>A | p.Ala378Ser | missense | C-term | Unknown | Not Rett synd. | 2 | View details |
c.1210G>A | g.153296069C>T | p.Glu404Lys | missense | C-term | Unknown | Rett syndrome-classical | 1 | View details |
c.1114C>T | g.153296165G>A | p.His372Tyr | missense | C-term | Unknown | Not Known | 1 | View details |
c.[964C>G(;)*98dupA] | g.[153296315G>C;153295720dupT] | p.Pro322Ala | missense, 3'UTR variation | C-term | Unknown | Rett syndrome-classical | 1 | View details |
c.1255C>T | g.153296024G>A | p.Pro419Ser | missense | C-term | Unknown | Not Rett synd. | 1 | View details |
c.752C>G | g.153296527G>C | p.Pro251Arg | missense | TRD | Unknown | Not Known | 1 | View details |
c.1417G>C | g.153295862C>G | p.(Glu473Gln) | missense | C-term | Unknown | Not Rett synd. | 1 | View details |
c.441C > G | g.153296838G>C | p.Asp147Glu | missense | MBD | Unknown | Not Rett synd. | 2 | View details |
uncertain | p.Ile314Ile | Silent | C-term | Silent polymorphism | Rett syndrome-Not certain | 1 | View details | |
c.474G>A | g.153296805C>T | p.Thr158Thr | Silent | MBD | Silent polymorphism | Rett syndrome-Not certain | 3 | View details |
c.1035A>G | g.153296244T>C | p.Lys345Lys | Silent | C-term | Silent polymorphism | Rett syndrome-Not certain | 13 | View details |
c.834C>T | g.153296445G>A | p.Ala278Ala | Silent | TRD | Silent polymorphism | Rett syndrome-Not certain | 7 | View details |
c.1065C>T | g.153296214G>A | p.Ser355Ser | Silent | C-term | Silent polymorphism | Rett syndrome-Not certain | 1 | View details |
c.426C>T | g.153296853G>A | p.Phe142Phe | Silent | MBD | Silent polymorphism | Rett syndrome-Not certain | 8 | View details |
c.168C>T | g.153297867G>A | p.Pro56Pro | Silent | N-term | Silent polymorphism | Rett syndrome-Not certain | 3 | View details |
c.1326C>T | g.153295953G>A | p.Thr442Thr | Silent | C-term | Silent polymorphism | Not Rett synd. | 4 | View details |
c.897C>T | g.153296382G>A | p.Thr299Thr | Silent | TRD | Silent polymorphism | Rett syndrome-Not certain | 38 | View details |
c.582C>T | g.153296697G>A | p.Ser194Ser | Silent | Inter-domain region | Silent polymorphism | Not Rett synd. | 38 | View details |
c.1071C>T | g.153296208G>A | p.Ser357Ser | Silent | C-term | Silent polymorphism | Not Rett synd. | 2 | View details |
c.984C>T | g.153296295G>A | p.Leu328Leu | Silent | C-term | Silent polymorphism | Rett syndrome-Classical | 6 | View details |
c.1335G>A | g.153295944C>T | p.Thr445Thr | Silent | C-term | Silent polymorphism | Not Rett synd. | 10 | View details |
c.[819G>T(;)1161C>T] | g.[153296460C>A;153296118G>A] | p.[Gly273Gly(;)Pro387Pro] | Silent | TRD, C-term | Silent polymorphism | Rett syndrome-Atypical | 1 | View details |
c.819G>T | g.153296460C>A | p.Gly273Gly | Silent | TRD | Silent polymorphism | Not Rett synd. | 10 | View details |
c.1197C>T | g.153296082G>A | p.Pro399Pro | Silent | C-term | Silent polymorphism | Rett syndrome-Not certain | 8 | View details |
c.375C>A | g.153297660G>T | p.Ile125Ile | Silent | MBD | Silent polymorphism | Rett syndrome-Not certain | 8 | View details |
c.1233C>T | g.153296046G>A | p.Ser411Ser | Silent | C-term | Silent polymorphism | Rett syndrome-Classical | 30 | View details |
c.849C>G | g.153296430G>C | p.Ala283Ala | Silent | TRD | Silent polymorphism | Not Rett synd. | 1 | View details |
c.843C>T | g.153296436G>A | p.Ala281Ala | Silent | TRD | Silent polymorphism | Rett syndrome-Not certain | 5 | View details |
c.1176G>A | g.153296103C>T | p.Glu392Glu | Silent | C-term | Silent polymorphism | Rett syndrome-Classical | 1 | View details |
c.840C>T | g.153296439G>A | p.Ala280Ala | Silent | TRD | Silent polymorphism | Not Rett synd. | 4 | View details |
c.750C>T | g.153296529G>A | p.Arg250Arg | Silent | TRD | Silent polymorphism | Not Rett synd. | 3 | View details |
c.777C>T | g.153296502G>A | p.Ala259Ala | Silent | TRD-NLS | Silent polymorphism | Rett syndrome-Not certain | 6 | View details |
c.903C>T | g.153296376G>A | p.Leu301Leu | Silent | TRD | Silent polymorphism | Rett syndrome-Classical | 1 | View details |
c.1137C>T | g.153296142G>A | p.Pro379Pro | Silent | C-term | Silent polymorphism | Not Rett synd. | 1 | View details |
c.393C>G | g.153296886G>C | p.Ala131Ala | Silent | MBD | Silent polymorphism | Rett syndrome-Not certain | 4 | View details |
c.210C>T | g.153297825G>A | p.Ser70Ser | Silent | N-term | Silent polymorphism | Not Known | 4 | View details |
c.297C>G | g.153297738G>C | p.Thr99Thr | Silent | MBD | Silent polymorphism | Rett syndrome-Not certain | 1 | View details |
c.1266C>T | g.153296013G>A | p.Gly422Gly | Silent | C-term | Silent polymorphism | Rett syndrome-Not certain | 4 | View details |
c.1446C>T | g.153295833G>A | p.Thr482Thr | Silent | C-term | Silent polymorphism | Rett syndrome-Not certain | 1 | View details |
c.1239C>T | g.153296040G>A | p.Cys413Cys | Silent | C-term | Silent polymorphism | Not Known | 2 | View details |
c.690A>C | g.153296589T>G | p.Pro230Pro | Silent | TRD | Silent polymorphism | Not Known | 2 | View details |
c.948C>G | g.153296331G>C | p.Val316Val | Silent | C-term | Silent polymorphism | Not Known | 3 | View details |
c.720C>T | g.153296559G>A | p.Thr240Thr | Silent | TRD | Silent polymorphism | Not Known | 2 | View details |
c.585C>T | g.153296694G>A | p.Gly195Gly | Silent | Inter-domain region | Silent polymorphism | Not Known | 1 | View details |
c.1404G>A | g.153295875C>T | p.Arg468Arg | Silent | C-term | Silent polymorphism | Not Known | 1 | View details |
c.1215C>T | g.153296064G>A | p.Pro405Pro | Silent | C-term | Silent polymorphism | Not Rett synd. | 3 | View details |
c.591G>A | g.153296688C>T | p.Thr197Thr | Silent | Inter-domain region | Silent polymorphism | Not Rett synd. | 1 | View details |
c.720C>G | g.153296559G>C | p.Thr240Thr | Silent | TRD | Silent polymorphism | Not Rett synd. | 2 | View details |
c.666C>G | g.153296613G>C | p.Val222Val | Silent | TRD | Silent polymorphism | Rett syndrome-Preserved speech | 3 | View details |
c.1206C>T | g.153296073G>A | p.Pro402Pro | Silent | C-term | Silent polymorphism | Not Rett synd. | 5 | View details |
c.1284C>T | g.153295995G>A | p.Gly428Gly | silent | C-term | Silent polymorphism | Rett syndrome-classical | 1 | View details |
c.1161C>T | g.153296118G>A | p.Pro387Pro | silent | C-term | Silent polymorphism | Rett syndrome-Classical | 2 | View details |
c.609G>A | g.153296670C>T | p.Thr203Thr | silent | inter-domain region | Silent polymorphism | Not Rett synd. | 1 | View details |
c.906C>G | g.153296373G>C | p.Pro302Pro | silent | TRD | Silent polymorphism | Not Rett synd. | 1 | View details |
c.753C>T | g.153296526G>A | p.Pro251Pro | silent | TRD | Silent polymorphism | Rett syndrome-classical | 3 | View details |
c.225G>A | g.153297810C>T | p.Pro75Pro | silent | N-term | Silent polymorphism | Not Rett synd. | 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. | 1 | View details |
c.573C>T | g.153296706G>A | p.Pro191Pro | silent | inter-domain region | Silent polymorphism | Not Rett synd. | 1 | View details |
c.942C>T | g.153296337G>A | p.Ile314Ile | silent | C-term | Silent polymorphism | Not Rett synd. | 2 | View details |
c.660C>T | g.153296619G>A | p.Leu220Leu | silent | TRD | Silent polymorphism | Not Rett synd. | 1 | View details |
c.984C>A | g.153296295G>T | p.Leu328Leu | silent | C-term | Silent polymorphism | Not Known | 2 | View details |
c.1278C>T | g.153296001G>A | p.Ser426Ser | silent | C-term | Silent polymorphism | Rett syndrome-atypical | 1 | View details |
c.279C>T | g.153297756G>A | p.Pro93Pro | silent | MBD | Silent polymorphism | Rett syndrome-atypical | 1 | View details |
c.795C>G | g.153296484G>C | p.Pro265Pro | silent | TRD-NLS | Silent polymorphism | Rett syndrome-atypical | 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 | 1 | View details |
c.603G>A | g.153296676C>T | p.Ala201Ala | silent | inter-domain region | Silent polymorphism | Not Rett synd. | 1 | View details |
c.[1035A>G(;)1233C>T] | g.[153296244T>C;153296046G>A] | p.[Lys345Lys(;)Ser411Ser] | silent | C-term | Silent polymorphism | Rett syndrome-congenital | 1 | View details |
c.996C>T | g.153296283G>A | p.Ser332Ser | silent | C-term | Silent polymorphism | Not Rett synd. | 3 | View details |
c.627G>A | g.153296652C>T | p.Val209Val | silent | TRD | Silent polymorphism | Not Rett synd. | 1 | View details |
c.999G>T | g.153296280C>A | p.Gly333Gly | silent | C-term | Silent polymorphism | Rett syndrome-not certain | 1 | View details |
c.1437G>A | g.153295842C>T | p.Thr479Thr | silent | C-term | Silent polymorphism | Rett syndrome-atypical | 1 | View details |
c.1053C>G | g.153296226G>C | p.Pro351Pro | silent | C-term | Silent polymorphism | Not Rett synd. | 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 | 12 | View details |
c.378-17delT | g.153296918delA | intronic variation | Intronic variation | Intronic | Polymorphism not causing disease | Rett syndrome-Not certain | 90 | View details |
c.590C>T | g.153296689G>A | p.Thr197Met | Missense | Inter-domain region | Polymorphism not causing disease | Rett syndrome-Not certain | 14 | View details |
c.*487G>C | g.153295331C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 1 | View details |
c.602C>T | g.153296677G>A | p.Ala201Val | Missense | Inter-domain region | Polymorphism not causing disease | Rett syndrome-Not certain | 30 | View details |
c.752C>T | g.153296527G>A | p.Pro251Leu | Missense | TRD | Polymorphism not causing disease | Not Rett synd. | 1 | View details |
c.1126C>T | g.153296153G>A | p.Pro376Ser | Missense | C-term | Polymorphism not causing disease | Not Rett synd. | 17 | View details |
c.1189G>A | g.153296090C>T | p.Glu397Lys | Missense | C-term | Polymorphism not causing disease | Rett syndrome-Not certain | 49 | View details |
c.377+11G>C | g.153297647C>G | intronic variation | Intronic variation | Intronic | Polymorphism not causing disease | Rett syndrome-Not certain | 1 | View details |
c.608C>T | g.153296671G>A | p.Thr203Met | Missense | Inter-domain region | Polymorphism not causing disease | Rett syndrome-atypical | 15 | View details |
c.*93G>A | g.153295725C>T | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 4 | View details |
c.1430G>C | g.153295849C>G | p.Ser477Thr | Missense | C-term | Polymorphism not causing disease | Not Rett synd. | 3 | View details |
c.*8C>T | g.153295810G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 2 | View details |
c.686C>T | g.153296593G>A | p.Ser229Leu | Missense | TRD | Polymorphism not causing disease | Rett syndrome-Classical | 6 | View details |
c.1196C>T | g.153296083G>A | p.Pro399Leu | Missense | C-term | Polymorphism not causing disease | Not Rett synd. | 4 | View details |
c.377+22C>G | g.153297636G>C | intronic variation | Intronic variation | Intronic | Polymorphism not causing disease | Not Rett synd. | 19 | View details |
c.1330G>A | g.153295949C>T | p.Ala444Thr | Missense | C-term | Polymorphism not causing disease | Rett syndrome-Not certain | 14 | View details |
c.1234G>A | g.153296045C>T | p.Val412Ile | Missense | C-term | Polymorphism not causing disease | Rett syndrome-Not certain | 5 | View details |
c.1282G>A | g.153295997C>T | p.Gly428Ser | Missense | C-term | Polymorphism not causing disease | Not Rett synd. | 7 | View details |
c.*9G>A | g.153295809C>T | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 19 | View details |
c.1075T>C | g.153296204A>G | p.Ser359Pro | Missense | C-term | Polymorphism not causing disease | Rett syndrome-Male variant | 7 | View details |
c.378-241C>T | g.153297142G>A | intronic variation | Intronic variation | Intronic | Polymorphism not causing disease | Rett syndrome-Classical | 1 | View details |
c.377+95G>A | g.153297563C>T | intronic variation | Intronic variation | Intronic | Polymorphism not causing disease | Not Rett synd. | 2 | 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. | 3 | View details |
c.[1126C>T];[1126C>T] | p.[Pro376Ser];[Pro376Ser] | Missense | C-term | Polymorphism not causing disease | Not Rett synd. | 1 | View details | |
c.1205C>T | g.153296074G>A | p.Pro402Leu | Missense | C-term | Polymorphism not causing disease | Not Rett synd. | 5 | View details |
c.527C>G | g.153296752G>C | p.Pro176Arg | Missense | Inter-domain region | Polymorphism not causing disease | Rett syndrome-Not certain | 7 | View details |
c.683C>G | g.153296596G>C | p.Thr228Ser | Missense | TRD | Polymorphism not causing disease | Rett syndrome-Not certain | 7 | View details |
c.815C>T | g.153296464G>A | p.Pro272Leu | Missense | TRD | Polymorphism not causing disease | Rett syndrome-Not certain | 8 | View details |
c.749G>A | g.153296530C>T | p.Arg250His | Missense | TRD | Polymorphism not causing disease | Rett syndrome-Not certain | 2 | View details |
c.881G>C | g.153296398C>G | p.Arg294Pro | Missense | TRD | Polymorphism not causing disease | Rett syndrome-Not certain | 2 | View details |
c.*98dupA | g.153295720dupT | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Rett syndrome-Not certain | 23 | View details |
c.1061G>T | g.153296218C>A | p.Arg354Leu | Missense | C-term | Polymorphism not causing disease | Not Rett synd. | 1 | View details |
c.-116_-114dupAGG | g.153363076_153363078dupCCT | p.(=) | In-frame insertion or deletion | N-term | Polymorphism not causing disease | Not Known | 16 | 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 | 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 | 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. | 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 | 1 | View details |
c.378-74C>T | g.153296975G>A | intronic variation | Intronic variation | Intronic | Polymorphism not causing disease | Not Known | 29 | View details |
c.633G>C | g.153296646C>G | p.Arg211Ser | Missense | TRD | Polymorphism not causing disease | Rett syndrome-Classical | 3 | View details |
c.1372C>T | g.153295907G>A | p.Arg458Cys | Missense | C-term | Polymorphism not causing disease | Not Known | 2 | View details |
c.-143_-138dup | g.153363100_153363105dup | p.(=) | In-frame insertion or deletion | N-term | Polymorphism not causing disease | Rett syndrome-Atypical | 6 | 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 | 2 | View details |
c.587C>G | g.153296692G>C | p.Thr196Ser | Missense | Inter-domain region | Polymorphism not causing disease | Not Rett synd. | 14 | View details |
c.[1202G>A];[1202G>A] | p.[Ser401Asn];[Ser401Asn] | Missense | C-term | Polymorphism not causing disease | Not Rett synd. | 1 | View details | |
c.1202G>A | g.153296077C>T | p.Ser401Asn | Missense | C-term | Polymorphism not causing disease | Not Rett synd. | 4 | View details |
c.*36G>C | g.153295782C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 1 | View details |
c.*92C>T | g.153295726G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Rett syndrome-Classical | 2 | View details |
c.*328G>A | g.153295490C>T | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Rett syndrome-Classical | 4 | View details |
c.*359G>C | g.153295459C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Rett syndrome-Classical | 1 | View details |
c.*363G>C | g.153295455C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Rett syndrome-Classical | 1 | View details |
c.245A>G | g.153297790T>C | p.Lys82Arg | missense | MBD | Polymorphism not causing disease | Not Rett synd. | 1 | View details |
c.*878C>G | g.153294940G>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 23 | View details |
c.*1737G>A | g.153294081C>T | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 13 | View details |
c.*3477G>A | g.153292341C>T | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 5 | View details |
c.*3878G>C | g.153291940C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 2 | View details |
c.*4576A>C | g.153291242T>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 3 | View details |
c.*5486_*5487dupAT | g.153290331_153290332dupAT | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 2 | View details |
c.*7748C>T | g.153288070G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 2 | View details |
c.*7856A>C | g.153287962T>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 18 | View details |
c.*8503delC | g.153287315delG | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 11 | View details |
c.*393G>A | g.153295425C>T | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 1 | View details |
c.*489G>C | g.153295329C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 1 | View details |
c.*529G>T | g.153295289C>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 1 | View details |
c.*806G>A | g.153295012C>T | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 1 | View details |
c.*831G>C | g.153294987C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 1 | View details |
c.*875dupA | g.153294943dupT | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 1 | View details |
c.*1237T>C | g.153294581A>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 1 | View details |
c.*3662A>G | g.153292156T>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 1 | View details |
c.*4086_*4087delGT | g.153291731_153291732delAC | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 1 | View details |
c.*5839C>T | g.153289979G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 1 | View details |
c.547G>C | g.153296732C>G | p.Gly183Arg | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd. | 2 | View details |
c.36G>C | g.153297999C>G | p.Lys12Asn | missense | N-term | Polymorphism not causing disease | Rett syndrome-not certain | 2 | View details |
AY523575.1:g.1029dupC | 5'UTR variation | 5'UTR variation | 5'UTR | Polymorphism not causing disease | Rett syndrome-classcial | 7 | View details | |
c.1141C>G | g.153296138G>C | p.Pro381Ala | missense | C-term | Polymorphism not causing disease | Rett syndrome-classical | 2 | View details |
c.1180G>A | g.153296099C>T | p.Glu394Lys | missense | C-term | Polymorphism not causing disease | Not Rett synd. | 4 | View details |
c.1438C>T | g.153295841G>A | p.Pro480Ser | missense | C-term | Polymorphism not causing disease | Not Rett synd. | 3 | View details |
c.[1451G>C];[*98dupA] | p.[Arg484Thr];[=] | missense, 3'UTR | C-term, 3'UTR | Polymorphism not causing disease | Rett syndrome-classical | 1 | View details | |
c.1133C>T | g.153296146G>A | p.Ala378Val | missense | C-term | Polymorphism not causing disease | Rett syndrome-not certain | 5 | View details |
c.1072G>A | g.153296207C>T | p.Ala358Thr | missense | C-term | Polymorphism not causing disease | Rett syndrome-not certain | 5 | View details |
c.1339G>A | g.153295940C>T | p.Ala447Thr | missense | C-term | Polymorphism not causing disease | Rett syndrome-not certain | 5 | View details |
c.*1134G>A | g.153294684C>T | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Rett syndrome-congenital | 1 | View details |
c.[*8500C>G];[*8503delC] | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 1 | View details | |
c.*8500C>G | g.153287318G>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 1 | View details |
c.1373G>A | g.153295906C>T | p.Arg458His | missense | c-term | Polymorphism not causing disease | Not Rett synd. | 2 | View details |
c.1436C>T | g.153295843G>A | p.Thr479Met | missense | C-term | Polymorphism not causing disease | Rett syndrome-NK | 3 | View details |
c.695G>C | g.153296584C>G | p.Gly232Ala | missense | TRD | Polymorphism not causing disease | Rett syndrome-NK | 17 | View details |
c.*8503dupC | g.153287315dupG | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 2 | View details |
c.439G>A | g.153296840C>T | p.Asp147Asn | missense | MBD | Polymorphism not causing disease | Not Rett synd. | 1 | View details |
c.1451G>C | g.153295828C>G | p.Arg484Thr | missense | C-term | Polymorphism not causing disease | Not Rett synd. | 1 | View details |
c.515C>T | g.153296764G>A | p.Pro172Leu | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd. | 2 | View details |
c.377+266T>C | g.153297392A>G | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd. | 1 | View details |
c.*55C>G | g.153295763G>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 3 | View details |
c.[378-74C>T];[378-74C>T] | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Rett syndrome-Classical | 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 | 1 | View details |
c.378-109A>G | g.153297010T>C | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Rett syndrome-Atypical | 3 | View details |
c.1288C>T | g.153295991G>A | p.Pro430Ser | missense | C-term | Polymorphism not causing disease | Rett syndrome-male variant | 5 | View details |
c.992A>G | g.153296287T>C | p.Lys331Arg | missense | C-term | Polymorphism not causing disease | Rett syndrome-congenital | 2 | View details |
c.985G>A | g.153296294C>T | p.Gly329Ser | missense | C-term | Polymorphism not causing disease | Not Rett synd. | 2 | View details |
c.377+28A>G | g.153297630T>C | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd. | 1 | View details |
c.377+30G>A | g.153297628C>T | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd. | 1 | View details |
c.378-70C>G | g.153296971G>C | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd. | 1 | View details |
c.431A>G | g.153296848T>C | p.Lys144Arg | missense | MBD | Polymorphism not causing disease | Not Rett synd. | 1 | View details |
c.1433G>A | g.153295846C>T | p.Arg478Gln | missense | C-term | Polymorphism not causing disease | Not Rett synd. | 1 | View details |
c.832G>A | g.153296447C>T | p.Ala278Thr | missense | TRD | Polymorphism not causing disease | Not Rett synd. | 1 | View details |
c.*156G>T | g.153295662C>A | Intronic variation | 3' UTR variation | 3' UTR | Polymorphism not causing disease | Not Rett synd. | 1 | View details |
c.1449G>A | g.153295830C>T | p.(=) | Missense | C-term | Polymorphism not causing disease | Not Rett synd. | 1 | View details |
c.-146_-138del9 | g.153363100_153363108del9 | p.(=) | in-frame insertion or deletion | exon 1 | Polymorphism not causing disease | Not Rett synd. | 2 | View details |
c.378-65C>G | g.153296966G>C | intronic | intronic | Polymorphism not causing disease | Not Rett synd. | 1 | View details | |
c.-143_-138dup6 | g.153363100_153363105dup6 | p.(=) | in-frame insertion or deletion | 5'UTR | Polymorphism not causing disease | Not Rett synd. | 5 | View details |
c.-395G>T | g.153363357C>A | Missense | 5'UTR | Polymorphism not causing disease | Not Rett synd. | 1 | View details | |
c.1193A>C | g.153296086T>G | p.Asp398Ala | missense | C-term | Polymorphism not causing disease | Not Rett synd. | 1 | View details |
c.1316C>T | g.153295963G>A | p.Ala439Val | missense | C-term | Polymorphism not causing disease | Not Rett synd. | 1 | View details |
c.-116_-114dup | g.153363076_153363078dup | p.(=) | in-frame insertion or deletion | N-term | Polymorphism not causing disease | Not Known | 1 | View details |
c.1235_1260del26 | g.153296019_153296044del26 | p.Val412fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Not certain | 1 | View details |
c.808delC | g.153296471delG | p.Arg270fs | Frameshift insertion or deletion | TRD-NLS | Mutation associated with disease | Rett syndrome-Not certain | 20 | View details |
c.917G>A | g.153296362C>T | p.Arg306His | Missense | TRD | Mutation associated with disease | Rett syndrome-Not certain | 19 | View details |
c.455C>G | g.153296824G>C | p.Pro152Arg | Missense | MBD | Mutation associated with disease | Rett syndrome-Not certain | 71 | View details |
c.316C>T | g.153297719G>A | p.Arg106Trp | Missense | MBD | Mutation associated with disease | Rett syndrome-Not certain | 134 | View details |
c.397C>T | g.153296882G>A | p.Arg133Cys | Missense | MBD | Mutation associated with disease | Rett syndrome-Not certain | 217 | View details |
c.808C>T | g.153296471G>A | p.Arg270* | Nonsense | TRD-NLS | Mutation associated with disease | Rett syndrome-Not certain | 276 | View details |
c.905C>G | g.153296374G>C | p.Pro302Arg | Missense | TRD | Mutation associated with disease | Rett syndrome-Not certain | 16 | View details |
c.-99+2_-99+3delTG | g.153363058_153363059delCA | intronic variant | intronic variation | intronic | Mutation associated with disease | Rett syndrome-classical | 3 | View details |
c.1164_1207del44 | g.153296072_153296115del44 | p.Pro389* | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Not certain | 48 | View details |
c.1153_1190del38 | g.153296089_153296126del38 | p.Pro385fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Not certain | 1 | View details |
c.806delG | g.153296473delC | p.Gly269fs | Frameshift insertion or deletion | TRD-NLS | Mutation associated with disease | Rett syndrome-Not certain | 63 | View details |
c.916C>T | g.153296363G>A | p.Arg306Cys | Missense | TRD | Mutation associated with disease | Rett syndrome-Not certain | 247 | View details |
c.763C>T | g.153296516G>A | p.Arg255* | Nonsense | TRD | Mutation associated with disease | Rett syndrome-Not certain | 319 | View details |
c.730C>T | g.153296549G>A | p.Gln244* | Nonsense | TRD | Mutation associated with disease | Rett syndrome-Not certain | 4 | View details |
c.710dupG | g.153296569dupC | p.Gly238fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-Not certain | 7 | View details |
c.748dupC | g.153296531dupG | p.Arg250fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-Not certain | 2 | View details |
c.856_859delAAAG | g.153296420_153296423delCTTT | p.Lys286fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-Not certain | 10 | View details |
c.1012_1202del191 | g.153296077_153296267del191 | p.Thr338fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Not certain | 1 | View details |
c.[1038_1119del82; 1169_1339del171ins137] | p.Ser346fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Not certain | 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 | 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 | 47 | View details |
c.1160_1185del26 | g.153296094_153296119del26 | p.Pro387fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Not certain | 3 | View details |
c.1164_1206del43 | g.153296073_153296115del43 | p.Pro389fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Not certain | 4 | View details |
c.473C>T | g.153296806G>A | p.Thr158Met | Missense | MBD | Mutation associated with disease | Rett syndrome-Male variant | 420 | View details |
c.502C>T | g.153296777G>A | p.Arg168* | Nonsense | Inter-domain region | Mutation associated with disease | Rett syndrome-Not certain | 364 | View details |
c.880C>T | g.153296399G>A | p.Arg294* | Nonsense | TRD | Mutation associated with disease | Rett syndrome-Not certain | 239 | View details |
c.378-2A>G | g.153296903T>C | intronic variation | intronic variation | intronic | Mutation associated with disease | Rett syndrome-Not certain | 4 | View details |
c.401C>G | g.153296878G>C | p.Ser134Cys | Missense | MBD | Mutation associated with disease | Rett syndrome-Not certain | 21 | View details |
c.258_259delCA | g.153297776_153297777delTG | p.Ile87fs | Frameshift insertion or deletion | MBD | Mutation associated with disease | Rett syndrome-Not certain | 1 | View details |
c.1157_1200del44 | g.153296079_153296122del44 | p.Leu386fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Not certain | 30 | View details |
c.1163_1197del35 | g.153296082_153296116del35 | p.Pro388fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Not certain | 5 | View details |
c.1364_1365insC | g.153295914_153295915insG | p.Glu455fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Congenital onset | 1 | View details |
c.[880C>T];[1326C>T] | p.[Arg294*];[Thr442Thr] | Nonsense, silent | TRD, C-term | Mutation associated with disease | Rett syndrome-Not certain | 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 | 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 | 1 | View details | |
c.601dupG | g.153296678dupC | p.Ala201fs | Frameshift insertion or deletion | Inter-domain region | Mutation associated with disease | Rett syndrome-Not certain | 1 | View details |
c.849_1236del388 | g.153296043_153296430del388 | p.Lys284fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-Not certain | 1 | View details |
c.785_818del34 | g.153296461_153296494del34 | p.Gln262fs | Frameshift insertion or deletion | TRD-NLS | Mutation associated with disease | Rett syndrome-Not certain | 1 | View details |
c.914_1172del259 | g.153296107_153296365del259 | p.Lys305fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-Not certain | 1 | View details |
c.375delC | g.153297660delG | p.Asn126fs | Frameshift insertion or deletion | MBD | Mutation associated with disease | Rett syndrome-Classical | 2 | View details |
c.695delG | g.153296584delC | p.Gly232fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-Classical | 5 | View details |
c.696delC | g.153296583delG | p.Lys233fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-Classical | 5 | View details |
c.756_759delCAGG | g.153296520_153296523delCCTG | p.Arg253fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-Classical | 2 | View details |
c.146C>A | g.153297889G>T | p.Ser49* | Nonsense | N-term | Mutation associated with disease | Rett syndrome-Not certain | 4 | View details |
c.378-2A>C | g.153296903T>G | intronic variation | Intronic variation | Intronic | Mutation associated with disease | Rett syndrome-Not certain | 3 | View details |
c.439delG | g.153296840delC | p.Asp147fs | Frameshift insertion or deletion | MBD | Mutation associated with disease | Rett syndrome-Not certain | 1 | View details |
c.731_1166del436 | g.153296113_153296548del436 | p.Gln244fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-Not certain | 1 | View details |
c.747_751dup5 | g.153296528_153296532dup5 | p.Pro251fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-Not certain | 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 | 1 | View details |
c.1157_1187del31 | g.153296092_153296122del31 | p.Leu386fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Not certain | 2 | View details |
c.1158_1200del43 | g.153296079_153296121del43 | p.Pro387fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Not certain | 2 | View details |
c.613G>T | g.153296666C>A | p.Glu205* | Nonsense | Inter-domain region | Mutation associated with disease | Rett syndrome-Not certain | 2 | View details |
c.720dupC | g.153296559dupG | p.Thr241fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-Not certain | 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 | 1 | View details |
c.508C>T | g.153296771G>A | p.Gln170* | Nonsense | Inter-domain region | Mutation associated with disease | Rett syndrome-Classical | 7 | View details |
c.674C>G | g.153296605G>C | p.Pro225Arg | Missense | TRD | Mutation associated with disease | Rett syndrome-Classical | 20 | View details |
not certain | p.Leu386fs | Not known | C-term | Mutation associated with disease | Rett syndrome-Classical | 6 | View details | |
c.423C>G | g.153296856G>C | p.Tyr141* | Nonsense | MBD | Mutation associated with disease | Rett syndrome-Classical | 16 | View details |
c.431delA | g.153296848delT | p.Lys144fs | Frameshift insertion or deletion | MBD | Mutation associated with disease | Rett syndrome-Classical | 1 | View details |
c.1160_1200del41 | g.153296079_153296119del41 | p.Pro387fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Classical | 2 | View details |
c.753dupC | g.153296526dupG | p.Gly252fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-Not certain | 4 | View details |
c.317G>A | g.153297718C>T | p.Arg106Gln | Missense | MBD | Mutation associated with disease | Rett syndrome-Classical | 21 | 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 | 1 | 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 | 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 | 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 | 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 | 1 | View details |
c.1155_1200del46 | g.153296079_153296124del46 | p.Leu386fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Not Known | 3 | View details |
c.598A>T | g.153296681T>A | p.Lys200* | Nonsense | Inter-domain region | Mutation associated with disease | Rett syndrome-Classical | 2 | 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 | 1 | View details |
c.[473C>T];[1189G>A] | p.[Thr158Met];[Glu397Lys] | Missense | MBD, C-term | Mutation associated with disease | Rett syndrome-Atypical | 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 | 1 | View details |
c.480_481delTG | g.153296798_153296799delCA | p.Gly161fs | Frameshift insertion or deletion | MBD | Mutation associated with disease | Rett syndrome-Atypical | 1 | 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 | 1 | View details |
c.812_818del7 | g.153296461_153296467del7 | p.Lys271fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-Classical | 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 | 1 | View details |
c.100_103delGATA | g.153297932_153297935delTATC | p.Asp34fs | Frameshift insertion or deletion | N-term | Mutation associated with disease | Rett syndrome-Classical | 2 | 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 | 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 | 1 | View details |
c.1158_1167del10 | g.153296112_153296121del10 | p.Pro387fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Classical | 2 | View details |
c.1163_1188del26 | g.153296091_153296116del26 | p.Pro388fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Classical | 11 | View details |
c.677_678insA | g.153296601_153296602insT | p.Phe226fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-Classical | 1 | View details |
c.1038C>G | g.153296241G>C | p.Ser346Arg | Missense | C-term | Mutation associated with disease | Rett syndrome-Classical | 1 | View details |
c.1156_1172del17 | g.153296107_153296123del17 | p.Leu386* | frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Classical | 2 | View details |
c.1194_1195insT | g.153296084_153296085insA | p.Pro399fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Classical | 3 | View details |
c.592A>T | g.153296687T>A | p.Arg198* | Nonsense | Inter-domain region | Mutation associated with disease | Rett syndrome-Classical | 2 | View details |
c.1165_1190del26 | g.153296089_153296114del26 | p.Pro389fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Classical | 3 | View details |
c.1151_1188del38 | g.153296091_153296128del38 | p.Pro384fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Classical | 2 | View details |
c.1154_1197del44 | g.153296082_153296125del44 | p.Pro385fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Forme fruste | 6 | View details |
c.1145_1194del50 | g.153296085_153296134del50 | p.Leu382fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Classical | 2 | View details |
c.76delC | g.153297959delG | p.Leu26fs | Frameshift insertion or deletion | N-term | Mutation associated with disease | Rett syndrome-Classical | 2 | 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 | 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 | 2 | 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 | 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 | 1 | View details |
c.620dupT | g.153296659dupA | p.Gln208fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-Classical | 1 | View details |
c.464T>C | g.153296815A>G | p.Phe155Ser | Missense | MBD | Mutation associated with disease | Rett syndrome-Classical | 2 | View details |
c.1216C>T | g.153296063G>A | p.Gln406* | Nonsense | C-term | Mutation associated with disease | Not Rett synd. | 6 | View details |
c.410A>G | g.153296869T>C | p.Glu137Gly | Missense | MBD | Mutation associated with disease | Not Rett synd. | 1 | View details |
c.499C>T | g.153296780G>A | p.Arg167Trp | Missense | Inter-domain region | Mutation associated with disease | Not Rett synd. | 5 | View details |
c.167_168delCC | g.153297867_153297868delGG | p.Pro56fs | Frameshift insertion or deletion | N-term | Mutation associated with disease | Not Known | 2 | View details |
c.430A>T | g.153296849T>A | p.Lys144* | Nonsense | MBD | Mutation associated with disease | Rett syndrome-Not certain | 2 | View details |
c.611C>G | g.153296668G>C | p.Ser204* | Nonsense | Inter-domain region | Mutation associated with disease | Rett syndrome-Not certain | 5 | View details |
c.1079C>A | g.153296200G>T | p.Ser360* | Nonsense | C-term | Mutation associated with disease | Rett syndrome-Not certain | 1 | View details |
c.554delG | g.153296725delC | p.Gly185fs | Frameshift insertion or deletion | Inter-domain region | Mutation associated with disease | Rett syndrome-Not certain | 1 | View details |
c.710delG | g.153296569delC | p.Gly237fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-Not certain | 13 | View details |
c.753delC | g.153296526delG | p.Gly252fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-Not certain | 6 | View details |
c.752_753dupCC | g.153296526_153296527dupGG | p.Gly252fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-Not certain | 3 | 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 | 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 | 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 | 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 | 1 | View details |
c.1308_1309delTC | g.153295970_153295971delGA | p.Gln437fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Not certain | 2 | View details |
c.1159_1210del52 | g.153296069_153296120del52 | p.Pro387fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Not Rett synd. | 1 | View details |
c.1158_1186del29 | g.153296093_153296121del29 | p.Pro387fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Preserved speech | 1 | View details |
c.1157_1188del32 | g.153296091_153296122del32 | p.Leu386fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Preserved speech | 12 | View details |
c.345delC | g.153297690delG | p.Ser116fs | Frameshift insertion or deletion | MBD | Mutation associated with disease | Rett syndrome-Classical | 1 | View details |
c.898_1099del202 | g.153296180_153296381del202 | p.Val300fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-Classical | 1 | View details |
c.989_994delinsGCATCTTCTCCTCTTT | g.153296285_153296290delinsAAAGAGGAGAAGATGC | p.Glu330fs | Frameshift combined insertion and deletion | C-term | Mutation associated with disease | Rett syndrome-Classical | 1 | View details |
c.[=/167_168delCC] | p.[=/Pro56fs] | Frameshift insertion or deletion | C-term | Mutation associated with disease | Not Rett synd. | 1 | View details | |
c.1127_1179del53 | g.153296100_153296152del53 | p.Pro376fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Not certain | 4 | 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 | 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 | 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. | 2 | View details |
c.531delA | g.153296748delT | p.Lys177fs | Frameshift insertion or deletion | Inter-domain region | Mutation associated with disease | Rett syndrome-Not certain | 1 | View details |
c.880_884del5 | g.153296395_153296399del5 | p.Arg294fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-Not certain | 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 | 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 | 1 | View details |
c.1167_1200del34 | g.153296079_153296112del34 | p.Pro390fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Not certain | 1 | View details |
c.55C>T | g.153297980G>A | p.Gln19* | Nonsense | N-term | Mutation associated with disease | Rett syndrome-Atypical | 2 | View details |
c.27-6C>G | g.153298014G>C | p.Arg9fs | Intronic variation | Intronic | Mutation associated with disease | Rett syndrome-Not certain | 1 | View details |
c.201delG | g.153297834delC | p.Ser68fs | Frameshift insertion or deletion | N-term | Mutation associated with disease | Rett syndrome-Not certain | 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 | 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 | 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 | 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 | 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 | 2 | View details |
c.750_750delCinsTCAGGAAGCTT | g.153296529delinsAAGCTTCCTGA | p.Pro251fs | Frameshift combined insertion and deletion | TRD | Mutation associated with disease | Rett syndrome-Not certain | 1 | View details |
c.64A>T | g.153297971T>A | p.Lys22* | Nonsense | N-term | Mutation associated with disease | Rett syndrome-Classical | 2 | View details |
c.889C>T | g.153296390G>A | p.Gln297* | Nonsense | TRD | Mutation associated with disease | Rett syndrome-Classical | 2 | View details |
c.736_737insAT | g.153296542_153296543insAT | p.Met246fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-Classical | 1 | View details |
c.1160_1188del29 | g.153296091_153296119del29 | p.Pro387fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Classical | 1 | View details |
c.1200dupC | g.153296079dupG | p.Ser401fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Classical | 1 | View details |
c.[423C>G];[=] | p.[Tyr141*];[=] | Nonsense | MBD | Mutation associated with disease | Rett syndrome-Male variant | 1 | View details | |
c.622C>T | g.153296657G>A | p.Gln208* | Nonsense | TRD | Mutation associated with disease | Rett syndrome-Classical | 1 | View details |
c.1152_1195del44 | g.153296084_153296127del44 | p.Pro385fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Classical | 4 | View details |
c.35_42dup | g.153297993_153298000dup | p.Asp15fs | Frameshift insertion or deletion | N-term | Mutation associated with disease | Rett syndrome-Classical | 1 | View details |
c.566delG | g.153296713delC | p.Gly189fs | Frameshift insertion or deletion | Inter-domain region | Mutation associated with disease | Rett syndrome-Classical | 1 | View details |
c.1116_1201del86 | g.153296078_153296163del86 | p.His372fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Classical | 3 | View details |
c.411delG | g.153296868delC | p.Glu137fs | Frameshift insertion or deletion | MBD | Mutation associated with disease | Rett syndrome-Not certain | 1 | View details |
c.1190dupA | g.153296089dupT | p.Asp398fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.451delG | g.153296828delC | p.Asp151fs | Frameshift insertion or deletion | MBD | Mutation associated with disease | Rett syndrome-atypical | 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 | 1 | View details |
c.422dupA | g.153296857dupT | p.Tyr141* | Frameshift insertion or deletion | MBD | Mutation associated with disease | Not Known | 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 | 1 | View details |
c.898_904del7 | g.153296375_153296381del7 | p.Val300fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-Not certain | 1 | View details |
c.26+2T>A | g.153357640A>T | intronic variation | Intronic variation | Intronic | Mutation associated with disease | Rett syndrome-Not certain | 1 | View details |
c.428_429insT | g.153296850_153296851insA | p.Glu143fs | Frameshift insertion or deletion | MBD | Mutation associated with disease | Rett syndrome-Not certain | 1 | View details |
c.1271_1416del146 | g.153295863_153296008del146 | p.Leu424fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Not Known | 1 | View details |
c.764_765ins8 | p.Arg255fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Not Known | 1 | View details | |
c.529A>T | g.153296750T>A | p.Lys177* | Nonsense | Inter-domain region | Mutation associated with disease | Not Known | 1 | View details |
c.46C>T | g.153297989G>A | p.Gln16* | Nonsense | N-term | Mutation associated with disease | Not Known | 2 | View details |
c.523A>T | g.153296756T>A | p.Lys175* | Nonsense | Inter-domain region | Mutation associated with disease | Not Known | 1 | View details |
c.1105delC | g.153296174delG | p.His369fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Not Known | 2 | View details |
c.1330_1342del13 | g.153295937_153295949del13 | p.Ala444fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Not Known | 1 | View details |
c.229_238del10 | g.153297797_153297806del10 | p.Ala77fs | Frameshift insertion or deletion | N-term | Mutation associated with disease | Not Known | 2 | View details |
c.1338_1354del | g.153295925_153295941del | p.Ala447fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Not Known | 1 | View details |
c.1087A>T | g.153296192T>A | p.Lys363* | Nonsense | C-term | Mutation associated with disease | Not Known | 2 | View details |
c.1324_1364del41 | g.153295915_153295955del41 | p.Thr442fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Not Known | 2 | View details |
c.807_*125del780 | g.153295693_153296472del780 | p.Arg270_Ser486delinsGln | In-frame insertion or deletion | TRD-NLS | Mutation associated with disease | Not Known | 1 | View details |
c.194C>G | g.153297841G>C | p.Ser65* | Nonsense | N-term | Mutation associated with disease | Not Known | 2 | View details |
c.1129_1193del65 | g.153296086_153296150del65 | p.Lys377fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Not Known | 1 | View details |
c.1157_1191del35 | g.153296088_153296122del35 | p.Leu386fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Not Known | 5 | View details |
c.1041_*29del450 | g.153295789_153296238del450 | p.Lys347_Ser486delins17 | In-frame insertion or deletion | C-term | Mutation associated with disease | Not Known | 1 | View details |
c.854dupA | g.153296425dupT | p.Lys286fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Not Known | 1 | View details |
c.249_250ins7 | p.Arg84fs | Frameshift insertion or deletion | MBD | Mutation associated with disease | Not Known | 1 | View details | |
c.651_652delTG | g.153296627_153296628delCA | p.Gly218fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Not Known | 2 | View details |
c.715delG | g.153296564delC | p.Ala239fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Not Known | 1 | View details |
c.760A>T | g.153296519T>A | p.Lys254* | Nonsense | TRD | Mutation associated with disease | Not Known | 1 | View details |
c.864dupG | g.153296415dupC | p.Lys289fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Not Known | 1 | View details |
c.-168-?_26+?del | g.153357642_153363130del | p.Met1? | exon deletions | N-term | Mutation associated with disease | Rett syndrome-Not certain | 14 | 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 | 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 | 1 | View details |
c.470dupT | g.153296809dupA | p.Thr158fs | Frameshift insertion or deletion | MBD | Mutation associated with disease | Rett syndrome-Not certain | 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 | 1 | 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 | 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 | 2 | View details |
c.27-2A>G | g.153298010T>C | intronic variation | Intronic variation | Intronic | Mutation associated with disease | Rett syndrome-Not certain | 4 | View details |
c.1123_1202del80 | g.153296077_153296156del80 | p.Ser375fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Not certain | 1 | View details |
c.378-?_*?del | p.Asn126fs | exon deletion | MBD | Mutation associated with disease | Rett syndrome-Not certain | 11 | View details | |
c.748_753del6insGGCCG | g.153296526_153296531delinsCGGCC | p.Arg250fs | Frameshift combined insertion and deletion | TRD | Mutation associated with disease | Rett syndrome-Not certain | 1 | 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 | 1 | View details |
c.483delG | g.153296796delC | p.Arg162fs | Frameshift insertion or deletion | MBD | Mutation associated with disease | Rett syndrome-Not certain | 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 | 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 | 1 | View details |
c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Mutation associated with disease | Rett syndrome-Not certain | 33 | View details | |
c.315dupA | g.153297720dupT | p.Arg106fs | Frameshift insertion or deletion | MBD | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.739delG | g.153296540delC | p.Val247fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.755delG | g.153296524delC | p.Gly252fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-atypical | 1 | View details |
c.-168-?_*?del | p.Met1? | Frameshift insertion or deletion | N-term | Mutation associated with disease | Rett syndrome-Classical | 2 | View details | |
c.567dupA | g.153296712dupT | p.Arg190fs | Frameshift insertion or deletion | Inter-domain region | Mutation associated with disease | Rett syndrome-Not certain | 2 | View details |
c.1135_1142delCCCGTGCC | g.153296137_153296144delGGCACGGG | p.Pro379fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Not Rett synd. | 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 | 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 | 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 | 1 | View details |
c.1163_1179del17 | g.153296100_153296116del17 | p.Pro388fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Not Known | 2 | View details |
c.27-?_(378_1461)del | p.Arg9fs | Frameshift insertion or deletion | N-term | Mutation associated with disease | Rett syndrome-Classical | 2 | 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 | 6 | 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 | 1 | View details | |
c.481_987del507ins8 | p.Gly161fs | frameshift combined insertion and deletion | MBD | Mutation associated with disease | Rett syndrome-Classical | 1 | View details | |
c.617delG | g.153296662delC | p.Gly206fs | Frameshift insertion or deletion | Inter-domain region | Mutation associated with disease | Rett syndrome-Classical | 1 | View details |
c.1097_1203del107 | g.153296076_153296182del107 | p.His366fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Classical | 1 | View details |
c.126dupG | g.153297909dupC | p.His43fs | Frameshift insertion or deletion | N-term | Mutation associated with disease | Rett syndrome-Atypical | 1 | View details |
c.378-3C>G | g.153296904G>C | intronic variation | Intronic variation | Intronic | Mutation associated with disease | Rett syndrome-Classical | 3 | View details |
c.654_657delGAAG | g.153296622_153296625delCTTC | p.Lys219fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-Classical | 1 | View details |
c.865A>T | g.153296414T>A | p.Lys289* | Nonsense | TRD | Mutation associated with disease | Rett syndrome-Classical | 1 | View details |
c.1223_1265del43 | g.153296014_153296056del43 | p.Leu408fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Atypical | 1 | View details |
c.302C>A | g.153297733G>T | p.Pro101His | Missense | MBD | Mutation associated with disease | Rett syndrome-Classical | 1 | View details |
c.302C>T | g.153297733G>A | p.Pro101Leu | Missense | MBD | Mutation associated with disease | Rett syndrome-Classical | 1 | View details |
c.1052_1200del149 | g.153296079_153296227del149 | p.Pro351fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Atypical | 1 | View details |
c.1152_1155del4 | g.153296124_153296127del4 | p.Pro385fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Atypical | 1 | 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 | 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 | 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 | 1 | View details |
c.994_1346del353 | g.153295933_153296285del353 | p.Ser332fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Classical | 1 | View details |
c.994_998delAGCGG | g.153296281_153296285delCCGCT | p.Ser332fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Atypical | 1 | View details |
Not known | p.Ser373* | Nonsense | C-term | Mutation associated with disease | Rett syndrome-Atypical | 1 | View details | |
c.91delG | g.153297944delC | p.Val31* | Frameshift insertion or deletion | N-term | Mutation associated with disease | Rett syndrome-Classical | 1 | View details |
c.311_323del13 | g.153297712_153297724del13 | p.Trp104fs | Frameshift insertion or deletion | MBD | Mutation associated with disease | Rett syndrome-Atypical | 1 | View details |
c.311G>A | g.153297724C>T | p.Trp104* | Nonsense | MBD | Mutation associated with disease | Rett syndrome-Classical | 1 | View details |
c.1357C>T | g.153295922G>A | p.Arg453* | Nonsense | C-term | Mutation associated with disease | Rett syndrome-Preserved speech | 2 | 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 | 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 | 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 | 1 | View details |
c.-131delinsGA | g.153363093delinsTC | p.(=) | frameshift combined insertion and deletion | N-term | Mutation associated with disease | Rett syndrome-Classical | 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 | 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 | 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 | 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 | 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 | 1 | View details | |
c.189_190delGA | g.153297845_153297846delTC | p.Glu63fs | frameshift insertion or deletion | N-term | Mutation associated with disease | Rett syndrome-Classical | 1 | View details |
c.816_832del17 | g.153296447_153296463del17 | p.Gly273fs | frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-Classical | 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 | 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 | 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 | 1 | 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 | 1 | View details | |
c.1162_1163delinsTA | g.153296116_153296117delinsTA | p.Pro388* | frameshift combined insertion and deletion | C-term | Mutation associated with disease | Not Rett synd. | 1 | View details |
c.-113_-106dup | g.153363068_153363075dup | p.(=) | frameshift insertion or deletion | N-term | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.-102_-101delGA | g.153363063_153363064delTC | p.(=) | frameshift insertion or deletion | N-term | Mutation associated with disease | Rett syndrome-classical | 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 | 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 | 1 | View details |
c.378-?_1337+?del | g.153295942_153296901del | p.Asn126fs | exon deletion | MBD | Mutation associated with disease | Rett syndrome-classical | 2 | View details |
c.378-?_1185+?del | g.153296094_153296901del | p.Asn126fs | exon deletion | MBD | Mutation associated with disease | Rett syndrome-classical | 1 | 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 | 1 | View details | |
c.-114_-104del11 | g.153363066_153363076del11 | p.(=) | frameshift insertion or deletion | N-term | Mutation associated with disease | Rett syndrome-atypical | 8 | View details |
c.-138_-134dupCGCCG | g.153363096_153363100dupCGGCG | p.(=) | frameshift insertion or deletion | N-term | Mutation associated with disease | Rett syndrome-classical | 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 | 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 | 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 | 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 | 1 | View details |
c.830delC | g.153296449delG | p.Ala277fs | frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.1151_1191del41 | g.153296088_153296128del41 | p.Pro384fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-preserved speech | 1 | View details |
c.734_759del26 | g.153296520_153296545del26 | p.Val245fs | frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.756_763dup | g.153296516_153296523dup | p.Arg255fs | frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.799A>T | g.153296480T>A | p.Lys267* | nonsense | TRD-NLS | Mutation associated with disease | Rett syndrome-classical | 2 | View details |
c.898_901del | g.153296378_153296381del | p.Val300fs | frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-classical | 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 | 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 | 1 | 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 | 1 | View details | |
c.215dupC | g.153297820dupG | p.Ala73fs | frameshift insertion or deletion | N-term | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.1057_1219del163 | g.153296060_153296222del163 | p.Gly353fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-classical | 2 | 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 | 1 | View details | |
c.874_875insA | g.153296404_153296405insT | p.Ser292fs | frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-classical | 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 | 1 | View details |
c.1415_1416delAG | g.153295863_153295864delCT | p.Glu472fs | frameshift insertion ord deletion | C-term | Mutation associated with disease | Not Rett synd. | 1 | View details |
c.140dupA | g.153297895dupT | p.Pro48fs | frameshift insertion or deletion | N-term | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.[=/473C>T];[473C>T] | p.[=/Thr158Met];[Thr158Met] | missense | MBD | Mutation associated with disease | Rett syndrome-classical | 1 | View details | |
c.28G>T | g.153298007C>A | p.Glu10* | nonsense | N-term | Mutation associated with disease | Rett syndrome-not certain | 1 | View details |
c.382C>T | g.153296897G>A | p.Gln128* | nonsense | MBD | Mutation associated with disease | Rett syndrome-not certain | 2 | View details |
c.413T>A | g.153296866A>T | p.Leu138* | nonsense | MBD | Mutation associated with disease | Rett syndrome-not certain | 1 | View details |
c.538A>T | g.153296741T>A | p.Lys180* | nonsense | inter-domain region | Mutation associated with disease | Rett syndrome-not certain | 1 | View details |
c.107_113del7 | g.153297922_153297928del7 | p.Lys36fs | frameshift insertion or deletion | N-term | Mutation associated with disease | Rett syndrome-not certain | 1 | View details |
c.117dupA | g.153297918dupT | p.Glu40fs | frameshift insertion or deletion | N-term | Mutation associated with disease | Rett syndrome-not certain | 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 | 1 | View details |
c.382_1189del808 | g.153296090_153296897del808 | p.Gln128fs | frameshift insertion or deletion | MBD | Mutation associated with disease | Rett syndrome-not certain | 1 | View details |
c.475delG | g.153296804delC | p.Val159* | frameshift insertion or deletion | MBD | Mutation associated with disease | Rett syndrome-not certain | 1 | View details |
c.480delT | g.153296799delA | p.Arg162fs | frameshift insertion or deletion | MBD | Mutation associated with disease | Rett syndrome-not certain | 1 | 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 | 1 | 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 | 1 | View details |
c.676_677insA | g.153296602_153296603insT | p.Phe226fs | frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-not certain | 2 | View details |
c.711_1269del559 | g.153296010_153296568del559 | p.Gly238fs | frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-not certain | 1 | View details |
c.748_749insT | g.153296530_153296531insA | p.Arg250fs | frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-not certain | 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 | 1 | View details |
c.830_831ins23 | p.Ala277fs | frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-not certain | 1 | View details | |
c.851_1188del338 | g.153296091_153296428del338 | p.Lys284fs | frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-not certain | 1 | View details |
c.865_866delAA | g.153296413_153296414delTT | p.Lys289fs | frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-not certain | 1 | View details |
c.883delT | g.153296396delA | p.Ser295fs | frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-not certain | 1 | View details |
c.898delG | g.153296381delC | p.Val300fs | frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-not certain | 1 | View details |
c.906delC | g.153296373delG | p.Ile303fs | frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-not certain | 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 | 1 | View details |
c.1046_1206del161 | g.153296073_153296233del161 | p.Ser349fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-not certain | 1 | View details |
c.1078_*2524del2908 | g.153293294_153296201del2908 | p.Ser360fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-not certain | 1 | View details |
c.1105_1225del121 | g.153296054_153296174del121 | p.His369fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-not certain | 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 | 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 | 2 | 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 | 1 | View details |
c.1155_1183del29 | g.153296096_153296124del29 | p.Pro387fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-not certain | 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 | 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 | 2 | View details |
c.1156_1157dupCT | g.153296122_153296123dupAG | p.Pro387fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-not certain | 1 | View details |
c.1157_*944del1249 | g.153294874_153296122del1249 | p.Leu386fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-not certain | 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 | 1 | View details |
c.1164delA | g.153296115delT | p.Pro389fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-not certain | 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 | 1 | View details |
c.1202dupG | g.153296077dupC | p.Ser401fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-not certain | 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 | 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 | 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 | 1 | View details |
c.27-4722_*739delins43 | p.Arg9fs | frameshift combined insertion and deletion | N-term | Mutation associated with disease | Rett syndrome-not certain | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 3 | 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 | 1 | View details |
c.766_779dup14 | g.153296500_153296513dup14 | p.Asp260fs | frameshift insertion or deletion | TRD-NLS | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.1197dupC | g.153296082dupG | p.Thr400fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-classical | 3 | View details |
c.470_471delTC | g.153296808_153296809delGA | p.Phe157fs | frameshift insertion or deletion | MBD | Mutation associated with disease | Rett syndrome-preserved speech | 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 | 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 | 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 | 2 | 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 | 1 | View details |
c.894_1095del202 | g.153296184_153296385del202 | p.Glu298fs | frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-not certain | 1 | View details |
c.1196_1266del71 | g.153296013_153296083del71 | p.Pro399fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-not certain | 1 | View details |
c.[473C>T];[473C>T] | p.[Thr158Met];[Thr158Met] | missense | MBD | Mutation associated with disease | Rett syndrome-not certain | 1 | View details | |
c.378-2A>T | g.153296903T>A | intronic variation | intronic variation | intronic | Mutation associated with disease | Rett syndrome-not certain | 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 | 2 | View details |
c.881_902del22 | g.153296377_153296398del22 | p.Arg294fs | frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-not certain | 1 | 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 | 1 | 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 | 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 | 2 | View details | |
c.378-?_1170+?del | g.153296109_153296901del | p.Asn126fs | frameshift insertion or deletion | MBD | Mutation associated with disease | Rett syndrome-not certain | 1 | View details |
c.1169-?_*?del | p.Pro390fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-not certain | 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 | 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 | 1 | View details |
c.203C>G | g.153297832G>C | p.Ser68* | nonsense | MBD | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.107_108delAA | g.153297927_153297928delTT | p.Lys36fs | frameshift insertion or deletion | N-term | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.543_544delTC | g.153296735_153296736delGA | p.Pro182fs | frameshift insertion or deletion | inter-domain region | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.1450_1453delAGAG | g.153295826_153295829delCTCT | p.Arg484fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.1115_1326del212 | g.153295953_153296164del212 | p.His372fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-atypical | 1 | 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 | 1 | View details |
c.243dupC | g.153297792dupG | p.Lys82fs | frameshift insertion or deletion | MBD | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.1320dupT | g.153295959dupA | p.Ala441fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-atypical | 1 | View details |
c.233delC | g.153297802delG | p.Ser78fs | frameshift insertion or deletion | MBD | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.377+1G>T | g.153297657C>A | intronic variation | intronic variation | intronic | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.27-?_1018+?del | g.153296261_153298008del | p.Arg9fs | exonic deletions | N-term | Mutation associated with disease | Rett syndrome-classical | 3 | View details |
c.27-?_1397+?del | g.153295882_153298008del | p.Arg9fs | exonic deletions | N-term | Mutation associated with disease | Rett syndrome-classical | 3 | View details |
c.1017-?_1397+?del | g.153295882_153296262del | p.? | exonic deletions | C-term | Mutation associated with disease | Rett syndrome-atypical | 1 | View details |
c.1169-?_1170+?del | g.153296109_153296110del | p.? | exonic deletions | C-term | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.1169-?_1397+?del | g.153295882_153296110del | p.? | exonic deletions | C-term | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.1396-?_1397+?del | g.153295882_153295883del | p.? | exonic deletions | C-term | Mutation associated with disease | Rett syndrome-classical | 2 | View details |
c.631-?_657+?del | g.153296622_153296648del | p.? | exonic deletion | MBD | Mutation associated with disease | Rett syndrome-classical | 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 | 1 | View details |
c.784C>T | g.153296495G>A | p.Gln262* | nonsense | TRD-NLS | Mutation associated with disease | Rett syndrome-classical | 2 | View details |
c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA | g.153296095_153296115delinsTGCTCAAGTCCTGGGGCTCAG | p.Pro389* | frameshift combined insertion and deletion | C-term | Mutation associated with disease | Not Rett synd. | 2 | View details |
c.378-3_383del9 | g.153296896_153296904del9 | p.Asn126Lysfs*11 | frameshift insertion or deletion | MBD | Mutation associated with disease | Not Rett synd. | 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 | 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 | 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 | 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 | 1 | View details |
c.454C>G | g.153296825G>C | p.Pro152Ala | missense | MBD | Mutation associated with disease | Not Rett synd. | 2 | View details |
c.810_813delAAAG | g.153296466_153296469delCTTT | p.Lys271fs | frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-classical | 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 | 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 | 1 | View details |
c.869dupA | g.153296410dupT | p.Ser291fs | frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.1455_1456dupTA | g.153295823_153295824dupTA | p.Ser486fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.[=/808delC] | p.[=/Arg270fs] | frameshift insertion or deletion | TRD-NLS | Mutation associated with disease | Not Rett synd. | 1 | View details | |
c.484dupA | g.153296795dupT | p.Arg162fs | frameshift insertion or deletion | inter-domain region | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.495delC | g.153296784delG | p.Ser166fs | frameshift insertion or deletion | inter-domain region | Mutation associated with disease | Not Known | 1 | View details |
c.755dupG | g.153296524dupC | p.Arg253fs | frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-classical | 2 | View details |
c.819delG | g.153296460delC | p.Ser274fs | frameshift insertion or deletion | TRD | Mutation associated with disease | Not Known | 1 | View details |
c.1128_1179del52 | g.153296100_153296151del52 | p.Lys377fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Not Known | 1 | View details |
c.1162_1163delCC | g.153296116_153296117delGG | p.Pro388fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Not Known | 1 | View details |
c.295_297delACC | g.153297738_153297740delGGT | p.Thr99del | in-frame insertion or deletion | MBD | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.[1363G>T];[=] | p.[Glu455*];[=] | nonsense | C-term | Mutation associated with disease | Rett syndrome-male variant | 1 | View details | |
c.[=/316C>T] | p.[=/Arg106Trp] | missense | MBD | Mutation associated with disease | Rett syndrome-male variant | 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 | 3 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 1 | View details |
c.1189G>T | g.153296090C>A | p.Glu397* | nonsense | C-term | Mutation associated with disease | Rett syndrome-not certain | 1 | View details |
c.695dupG | g.153296584dupC | p.Lys233fs | frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-not certain | 2 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 1 | View details |
c.1160_1166del7 | g.153296113_153296119del7 | p.Pro387fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Classical | 2 | View details |
c.326dupA | g.153297709dupT | p.Gln110fs | frameshift insertion or deletion | MBD | Mutation associated with disease | Rett syndrome-Classical | 1 | View details |
c.377+1G>A | g.153297657C>T | intronic variation | intronic variation | intronic | Mutation associated with disease | Rett syndrome-Classical | 1 | View details |
c.420delG | g.153296859delC | p.Tyr141fs | frameshift insertion or deletion | MBD | Mutation associated with disease | Rett syndrome-Classical | 1 | View details |
c.566dupG | g.153296713dupC | p.Arg190fs | frameshift insertion or deletion | inter-domain region | Mutation associated with disease | Rett syndrome-Classical | 1 | View details |
c.1452_1453dup | g.153295826_153295827dup | p.Val485fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.274G>T | g.153297761C>A | p.Gly92* | nonsense | MBD | Mutation associated with disease | Rett syndrome-classical | 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 | 1 | View details |
c.1118C>G | g.153296161G>C | p.Ser373* | nonsense | C-term | Mutation associated with disease | Not Known | 1 | View details |
c.1170_1207del38 | g.153296072_153296109del38 | p.Pro391* | frameshift insertion or deletion | C-term | Mutation associated with disease | Not Known | 1 | View details |
c.1214_1230del17 | g.153296049_153296065del17 | p.Pro405fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Not Known | 1 | View details |
c.1276_*113del299ins3 | p.Ser426fs | frameshift combined insertion and deletion | C-term | Mutation associated with disease | Not Known | 1 | View details | |
c.146C>G | g.153297889G>C | p.Ser49* | nonsense | N-term | Mutation associated with disease | Not Known | 1 | View details |
c.56dupA | g.153297979dupT | p.Leu21fs | frameshift insertion or deletion | N-term | Mutation associated with disease | Not Known | 1 | View details |
c.673C>A | g.153296606G>T | p.Pro225Thr | missense | TRD | Mutation associated with disease | Not Known | 1 | View details |
c.686C>A | g.153296593G>T | p.Ser229* | nonsense | TRD | Mutation associated with disease | Not Known | 1 | View details |
c.689_756del68 | g.153296523_153296590del68 | p.Pro230fs | frameshift insertion or deletion | TRD | Mutation associated with disease | Not Known | 1 | View details |
c.736_743delinsGTG | g.153296536_153296543delinsCAC | p.Met246fs | frameshift combined insertion and deletion | TRD | Mutation associated with disease | Not Known | 1 | 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 | 1 | View details | |
c.834_939del106 | g.153296340_153296445del106 | p.Ala279fs | frameshift insertion or deletion | TRD | Mutation associated with disease | Not Known | 1 | View details |
c.943_1140del198ins6 | p.Glu315_Val380delins2 | in-frame combined insertion and deletion | C-term | Mutation associated with disease | Not Known | 1 | View details | |
c.-168-?_26+?del (deletion exons 1 and 2) | p.Met1? | exon deletions | N-term | Mutation associated with disease | Rett syndrome-congenital | 1 | View details | |
c.[=/360T>G] | p.[=/Tyr120*] | nonsense | MBD | Mutation associated with disease | Rett syndrome-atypical | 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 | 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 | 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 | 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. | 4 | View details |
c.50dupA | g.153297985dupT | p.Asp17fs | frameshift insertion or deletion | N-term | Mutation associated with disease | Rett syndrome-classical | 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 | 1 | View details |
c.248-?_320+?del (exon 3 deletion) | p.? | in-frame insertion or deletion | MBD | Mutation associated with disease | Rett syndrome-classical | 1 | View details | |
c.[=/657-?_1316+?del] | p.[=/?] | in-frame insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-male variant | 1 | 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 | 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 | 1 | View details |
c.1363G>T | g.153295916C>A | p.Glu455* | nonsense | C-term | Mutation associated with disease | Rett syndrome-classical | 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 | 1 | View details | |
c.1164_1194del31 | g.153296085_153296115del31 | p.Pro391fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-classical | 1 | 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 | 1 | View details |
c.574A>T | g.153296705T>A | p.Lys192* | nonsense | inter-domain region | Mutation associated with disease | Rett syndrome-classical | 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 | 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 | 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 | 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 | 1 | View details |
c.318_321dup | g.153297714_153297717dup | p.Leu108fs | frameshift insertion or deletion | MBD | Mutation associated with disease | Rett syndrome-classical | 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 | 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 | 2 | 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 | 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 | 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 | 1 | View details |
c.1180_1181insT | g.153296098_153296099insA | p.Glu394Valfs*11 | frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.-113_-106del8 | g.153363068_153363075del8 | p.(=) | frameshift insertion or deletion | N-term | Mutation associated with disease | Not Rett synd. | 1 | View details |
c.766A>T | g.153296513T>A | p.Lys256* | nonsense | TRD-NLS | Mutation associated with disease | Rett syndrome-classical | 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. | 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 | 1 | View details |
c.184-?_1065+?del | g.153296214_153297851del | p.? | exonic deletions | MBD | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.1044-?_1442+?del | g.153295837_153296235del | p.? | exonic deletions | C-term | Mutation associated with disease | Rett syndrome-atypical | 2 | 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 | 1 | View details |
c.-113C>T | g.153363075G>A | p.(=) | splicing | N-term | Mutation associated with disease | Rett syndrome-classical | 1 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 1 | View details |
c.820_1153del334ins67 | uncertain | combined in-frame insertion and deletion | TRD, C-term | Mutation associated with disease | Rett syndrome-not certain | 1 | View details | |
c.855_859del5ins12 | p.Ala287Lysfs*46 | combined frameshift insertion and deletion | C-term | Mutation associated with disease | Rett syndrome-not certain | 1 | View details | |
c.-99+2_30delTG | g.153298005_153363059delCA | intronic variant | Frameshift deletion | N-term | Mutation associated with disease | Rett syndrome-male variant | 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 | 1 | View details |
c.857_858dupAA | g.153296421_153296422dupTT | p.Ala287Lysfs*3 | frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.820_823dupAGTG | g.153296456_153296459dupCACT | p.Val275Glufs*57 | frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-classical | 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 | 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 | 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 | 1 | View details |
c.1085_1197del113 | g.153296082_153296194del113 | p.Pro362fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.1053_1156del104 | g.153296123_153296226del104 | p.Lys352fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.1135_1142del8 | g.153296137_153296144del8 | p.Pro379fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Not Rett synd. | 2 | View details |
c.753_754dup | g.153296525_153296526dup | p.Gly252fs | frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-classical | 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 | 1 | View details |
c.1157_1184del28 | g.153296095_153296122del28 | p.Leu386fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.1173_1207del35 | g.153296072_153296106del35 | p.Glu392* | frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.226delG | g.153297809delC | p.Glu76fs | frameshift insertion or deletion | MBD | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.1147_1174del28 | g.153296105_153296132del28 | p.Leu383fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Not Rett synd. | 1 | View details |
c.506_507dupAG | g.153296772_153296773dupCT | p.Gln170fs | frameshift insertion or deletion | Inter-domain | Mutation associated with disease | Not Rett synd. | 1 | View details |
c.478dupA | g.153296801dupT | p.Thr160fs | frameshift insertion or deletion | MBD | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.390dupA | g.153296889dupT | p.Ala131fs | frameshift insertion or deletion | MBD | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.842_843insT | g.153296436_153296437insA | p.Glu282fs | frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.829delG | g.153296450delC | p.Ala277fs | frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.863_881del19 | g.153296398_153296416del19 | p.Val288fs | frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.-114_-104dup11 | g.153363066_153363076dup11 | p.(=) | frameshift insertion or deletion | exon 1 | Mutation associated with disease | Rett syndrome-classical | 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 | 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 | 1 | View details |
c.667A>T | g.153296612T>A | p.Lys223* | nonsense | TRD | Mutation associated with disease | Rett syndrome-classical | 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 | 1 | View details |
c.611C>A | g.153296668G>T | p.Ser204* | nonsense | inter-domain | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.679C>T | g.153296600G>A | p.Gln227* | nonsense | TRD | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
CDKL5: c.119C>T | CDKL5: p.A40V | missense | CDKL5 | Mutation associated with disease | Not Rett synd. | 1 | View details | |
c.398G>C | g.153296881C>G | p.Arg133Pro | missense | MBD | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.-159T>C | g.153363121A>G | p.(=) | missense | N-term | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.-138_-134dup | g.153363096_153363100dup | p.(=) | frameshift insertion or deletion | N-term | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.397C > T | g.153296882G>A | p.Arg133Cys | missense | MBD | Mutation associated with disease | Rett syndrome-preserved speech | 3 | View details |
c.916C > T | g.153296363G>A | p.Arg306Cys | missense | TRD | Mutation associated with disease | Rett syndrome-preserved speech | 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. | 1 | View details |
c.455C>T | g.153296824G>A | p.Pro152Leu | missense | MBD | Mutation associated with disease | Not Rett synd. | 1 | View details |
c.1410_1411delCA | g.153295868_153295869delTG | p.Asn470Lysfs*16 | frameshift insertion or deletion | Mutation associated with disease | Rett syndrome-atypical | 4 | View details | |
[c.695 G > T; c.880C > T] | p.[Gly232Val;Arg294*] | missense,nonsense | TRD | Mutation associated with disease | Rett syndrome- | 1 | View details | |
c.473C > T | g.153296806G>A | p.Thr158Met | missense | MBD | Mutation associated with disease | Rett syndrome-classical | 4 | View details |
c.808C > T | g.153296471G>A | p.Arg270* | nonsense | TRD-NLS | Mutation associated with disease | Rett syndrome-classical | 4 | View details |
c.763C > T | g.153296516G>A | p.Arg255* | nonsense | TRD | Mutation associated with disease | Rett syndrome-classical | 3 | View details |
c.502C > T | g.153296777G>A | p.Arg168* | nonsense | Inter-domain region | Mutation associated with disease | Rett syndrome-classical | 2 | 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 | 1 | View details |
c.1205_1206insT | g.153296073_153296074insA | p.Glu404* | nonsense | C-term | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.164_182del | g.153297853_153297871del | p.Pro56GlnfsTer63 | frameshift insertion or deletion | N-term | Mutation associated with disease | Rett syndrome-classical | 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 | 1 | View details |
c.717del C | g.153296562delG | p.Thr240Profs*8 | frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.806del G | g.153296473delC | p.Gly269Alafs*20 | frameshift insertion or deletion | TRD-NLS | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.1132_1207del77 | g.153296072_153296147del | p.Ala378Leufs*6 | frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.917G > A | g.153296362C>T | p.Arg306His | missense | TRD | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
c.427G>A | g.153296852C>T | p.Glu143Lys | missense | MBD | Mutation associated with disease | Rett syndrome-classical | 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 | 1 | View details |
c.1004_1173delinsCTGTGTAA | NC_000023.10:g.153296106_153296275delins[NC_000008.10:50305003_50392184inv;TTACACAG] | p.Gly335_Ser486delinsAlaVal | frameshift combined insertion and deletion | C-term | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
Displaying 925 variants
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