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.*156G>T | g.153295662C>A | Intronic variation | 3' UTR variation | 3' UTR | Polymorphism not causing disease | Not Rett synd. | 1 | 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.*93G>A | g.153295725C>T | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 4 | 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.*9G>A | g.153295809C>T | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 19 | 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.*122delT | g.153295696delA | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Rett syndrome-Not certain | 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.*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.*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.*878C>G | g.153294940G>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 23 | View details |
| c.*1368C>A | g.153294450G>T | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd. | 1 | 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.*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.*3477G>A | g.153292341C>T | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 5 | View details |
| c.*3658C>T | g.153292160G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd. | 1 | 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.*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.*8503dupC | g.153287315dupG | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd. | 2 | 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.*92C>G | g.153295726G>C | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Rett syndrome-classical | 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.-15C>T | g.153357682G>A | 5'UTR variation | 5'UTR variation | 5'UTR | 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 |
| AY523575.1:g.1029dupC | 5'UTR variation | 5'UTR variation | 5'UTR | Polymorphism not causing disease | Rett syndrome-classcial | 7 | 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.855_859del5ins12 | p.Ala287Lysfs*46 | combined frameshift insertion and 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.820_1153del334ins67 | uncertain | combined in-frame insertion and deletion | TRD, C-term | Mutation associated with disease | Rett syndrome-not certain | 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.378-?_*?del | p.Asn126fs | exon deletion | MBD | Mutation associated with disease | Rett syndrome-Not certain | 11 | 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.-168-?_26+?del | g.153357642_153363130del | p.Met1? | exon deletions | N-term | Mutation associated with disease | Rett syndrome-Not certain | 14 | View details |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Mutation associated with disease | Rett syndrome-Not certain | 33 | 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.631-?_657+?del | g.153296622_153296648del | p.? | exonic deletion | MBD | 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.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.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.631-?_657+?dup | g.153296622_153296648dup | p.? | exonic duplication | MBD | Unknown | Rett syndrome-preserved speech | 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.[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.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.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.750_750delCinsTCAGGAAGCTT | g.153296529delinsAAGCTTCCTGA | p.Pro251fs | Frameshift combined insertion and deletion | TRD | Mutation associated with disease | Rett syndrome-Not certain | 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.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.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.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.481_987del507ins8 | p.Gly161fs | frameshift combined insertion and deletion | MBD | 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.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.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.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.[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.27-4722_*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.27-5774_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.[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.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.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.1276_*113del299ins3 | p.Ser426fs | frameshift combined insertion and deletion | C-term | 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.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.[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.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.[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.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.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.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 |
| 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.-99+2_30delTG | g.153298005_153363059delCA | intronic variant | Frameshift deletion | N-term | Mutation associated with disease | Rett syndrome-male variant | 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.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.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.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.1454_1457del4 | g.153295822_153295825del4 | p.Val485fs | Frameshift insertion or deletion | C-term | Unknown | Rett syndrome-Not certain | 2 | 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.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.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.720dupC | g.153296559dupG | p.Thr241fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-Not certain | 1 | 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.[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.1155_1200del46 | g.153296079_153296124del46 | p.Leu386fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Not Known | 3 | 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.812_818del7 | g.153296461_153296467del7 | p.Lys271fs | Frameshift insertion or deletion | TRD | 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.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.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.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.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.167_168delCC | g.153297867_153297868delGG | p.Pro56fs | Frameshift insertion or deletion | N-term | Mutation associated with disease | Not Known | 2 | 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.[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.[=/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.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.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.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.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.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.422dupA | g.153296857dupT | p.Tyr141* | Frameshift insertion or deletion | MBD | Mutation associated with disease | Not Known | 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.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.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.1324_1364del41 | g.153295915_153295955del41 | p.Thr442fs | Frameshift insertion or deletion | C-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.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.864dupG | g.153296415dupC | p.Lys289fs | Frameshift insertion or deletion | TRD | Mutation associated with disease | Not Known | 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.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.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.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.-167_-99del | g.153363061_153363129del | p.(=) | frameshift insertion or deletion | N-term | Unknown | Rett syndrome-Not certain | 6 | 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.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.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.654_657delGAAG | g.153296622_153296625delCTTC | p.Lys219fs | Frameshift insertion or deletion | 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.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.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 |
| 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.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.[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.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.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.-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.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.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.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.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.140dupA | g.153297895dupT | p.Pro48fs | frameshift insertion or deletion | N-term | Mutation associated with disease | Rett syndrome-classical | 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.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.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.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.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.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.27-3928_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-?_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.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.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.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.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.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.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.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.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.810_813delAAAG | g.153296466_153296469delCTTT | p.Lys271fs | frameshift insertion or deletion | 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.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.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 | |
| 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.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.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.56dupA | g.153297979dupT | p.Leu21fs | frameshift insertion or deletion | N-term | 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.834_939del106 | g.153296340_153296445del106 | p.Ala279fs | frameshift insertion or deletion | TRD | Mutation associated with disease | Not Known | 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.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.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.1164_1194del31 | g.153296085_153296115del31 | p.Pro391fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-classical | 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.318_321dup | g.153297714_153297717dup | p.Leu108fs | frameshift insertion or deletion | MBD | Mutation associated with disease | Rett syndrome-classical | 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.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.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.[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.[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.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.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.-138_-134dup | g.153363096_153363100dup | p.(=) | frameshift insertion or deletion | N-term | Mutation associated with disease | Rett syndrome-classical | 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.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.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.[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.[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.[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.[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.[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.1415_1416delAG | g.153295863_153295864delCT | p.Glu472fs | frameshift insertion ord deletion | C-term | Mutation associated with disease | Not Rett synd. | 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.[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.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.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.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.943_1140del198ins6 | p.Glu315_Val380delins2 | in-frame combined insertion and deletion | C-term | Mutation associated with disease | Not Known | 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.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.1104_1106del3 | g.153296173_153296175del3 | p.His372del | In-frame insertion or deletion | C-term | Unknown | Rett syndrome-Not certain | 1 | 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.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.1403_1408del6 | g.153295871_153295876del6 | p.Arg468_Pro469del | In-frame insertion or deletion | 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.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.1164_1172del9 | g.153296107_153296115del9 | p.Pro389_Pro391del | In-frame insertion or deletion | C-term | Unknown | Rett syndrome-Not certain | 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.635_655del21 | g.153296624_153296644del21 | p.Val212_Lys219delinsGlu | In-frame insertion or deletion | TRD | 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.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.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.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.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.-168-?_*?dup | p.Met1? | In-frame insertion or deletion | N-term | Unknown | Not Rett synd. | 17 | 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.-143_-138dup | g.153363100_153363105dup | p.(=) | In-frame insertion or deletion | N-term | Polymorphism not causing disease | Rett syndrome-Atypical | 6 | View details |
| c.-140_-138dup3 | g.153363100_153363102dup3 | p.(=) | In-frame insertion or deletion | N-term | Unknown | Not Known | 1 | View details |
| c.1162_1179del18 | g.153296100_153296117del18 | p.Pro388_Pro393del | In-frame insertion or deletion | C-term | Polymorphism not causing disease | Rett syndrome-Atypical | 2 | 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.-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.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.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.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.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.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_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.1159_1160ins300 | p.Pro387_Pro388ins100 | in-frame insertion or deletion | C-term | Unknown | Rett syndrome-not certain | 1 | View details | |
| c.[641_653del13; 711_1309del599] | g.[153296626_153296638del13;153295970_153296568del599] | p.Glu214_Gln437delinsGlySerSerLeuSerArgCysLeuPheLysLeuArgGlnGlyAlaArgLeuArgGlyGlu | in-frame insertion or deletion | TRD | Mutation associated with disease | Rett syndrome-not certain | 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.-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.1163_1201del39 | g.153296078_153296116del39 | p.Pro388_Ser401delinsArg | in-frame insertion or deletion | C-term | Unknown | Not Rett synd. | 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.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.900_908del | g.153296371_153296379del | p.Leu301_Ile303del | in-frame insertion or deletion | TRD | Unknown | Rett syndrome-forme fruste | 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.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.1161_1166del6 | g.153296113_153296118del6 | p.Pro390_Pro391del | in-frame insertion or deletion | C-term | Unknown | Not Rett synd. | 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.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.1153_1188del36 | g.153296091_153296126del36 | p.Pro385_Ser396del | in-frame insertion or deletion | C-term | Unknown | Rett syndrome-not certain | 1 | 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.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.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.-146_-138del9 | g.153363100_153363108del9 | p.(=) | in-frame insertion or deletion | exon 1 | Polymorphism not causing disease | Not Rett synd. | 2 | 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.-116_-114dup | g.153363076_153363078dup | p.(=) | in-frame insertion or deletion | N-term | Polymorphism not causing disease | Not Known | 1 | View details |
| c.[965_970del6; 1029dupG; 1138_1208del71] | g.[153296309_153296314del6;153296250dupC;153296071_153296141del71] | p.[Pro322_Leu323del; Arg344fs] | In-frame insertion or deletion, frameshift insertion or deletion | C-term | Mutation associated with disease | Rett syndrome-Not certain | 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.[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.[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.[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.[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.[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.[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.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.378-65C>G | g.153296966G>C | intronic | intronic | Polymorphism not causing disease | Not Rett synd. | 1 | 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.378-17delT | g.153296918delA | intronic variation | Intronic variation | Intronic | Polymorphism not causing disease | Rett syndrome-Not certain | 90 | 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.377+11G>C | g.153297647C>G | intronic variation | Intronic variation | Intronic | Polymorphism not causing disease | Rett syndrome-Not certain | 1 | View details |
| c.378-61C>G | g.153296962G>C | intronic variation | Intronic variation | Intronic | Unknown | Not Rett synd. | 1 | 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.27-8C>G | g.153298016G>C | intronic variation | Intronic variation | Intronic | Unknown | Rett syndrome-Classical | 2 | 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.27-6C>G | g.153298014G>C | p.Arg9fs | Intronic variation | Intronic | Mutation associated with disease | 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.377+6_377+9del | g.153297649_153297652del | intronic variation | Intronic variation | Intronic | Unknown | Not Rett synd. | 1 | 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.26+2T>A | g.153357640A>T | intronic variation | Intronic variation | Intronic | Mutation associated with disease | Rett syndrome-Not certain | 1 | 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.[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 | g.153296975G>A | intronic variation | Intronic variation | Intronic | Polymorphism not causing disease | Not Known | 29 | View details |
| c.27-9A>G | g.153298017T>C | intronic variation | Intronic variation | Intronic | Unknown | Rett syndrome-Classical | 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.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.377+24C>A | g.153297634G>T | intronic variation | intronic variation | intronic | Unknown | Not Rett synd. | 3 | 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.-99+1G>A | g.153363060C>T | intronic variant | intronic variation | intronic | Unknown | 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.377+266T>C | g.153297392A>G | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd. | 1 | 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.377+1G>A | g.153297657C>T | intronic variation | intronic variation | intronic | Mutation associated with disease | Rett syndrome-Classical | 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.378-14G>A | g.153296915C>T | intronic variation | intronic variation | intronic | Unknown | Rett syndrome-Classical | 1 | 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.[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 |
| 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;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.[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.[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.[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.[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.[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.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.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.905C>G | g.153296374G>C | p.Pro302Arg | Missense | TRD | Mutation associated with disease | Rett syndrome-Not certain | 16 | View details |
| c.916C>T | g.153296363G>A | p.Arg306Cys | Missense | TRD | Mutation associated with disease | Rett syndrome-Not certain | 247 | 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.590C>T | g.153296689G>A | p.Thr197Met | Missense | Inter-domain region | Polymorphism not causing disease | Rett syndrome-Not certain | 14 | View details |
| c.473C>T | g.153296806G>A | p.Thr158Met | Missense | MBD | Mutation associated with disease | Rett syndrome-Male variant | 420 | View details |
| c.965C>T | g.153296314G>A | p.Pro322Leu | Missense | C-term | Unknown | Rett syndrome-Not certain | 9 | View details |
| c.401C>G | g.153296878G>C | p.Ser134Cys | Missense | MBD | Mutation associated with disease | Rett syndrome-Not certain | 21 | View details |
| c.904C>G | g.153296375G>C | p.Pro302Ala | Missense | TRD | Unknown | Rett syndrome-Preserved speech | 4 | 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.905C>A | g.153296374G>T | p.Pro302His | Missense | TRD | Unknown | Rett syndrome-Not certain | 3 | 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.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.1189G>A | g.153296090C>T | p.Glu397Lys | Missense | C-term | Polymorphism not causing disease | Rett syndrome-Not certain | 49 | 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.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.380C>T | g.153296899G>A | p.Pro127Leu | Missense | MBD | Unknown | Rett syndrome-Preserved speech | 5 | View details |
| c.674C>G | g.153296605G>C | p.Pro225Arg | Missense | TRD | Mutation associated with disease | Rett syndrome-Classical | 20 | View details |
| c.398G>T | g.153296881C>A | p.Arg133Leu | Missense | MBD | Unknown | Rett syndrome-Classical | 1 | 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.1430G>C | g.153295849C>G | p.Ser477Thr | Missense | C-term | Polymorphism not causing disease | Not Rett synd. | 3 | 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.1038C>G | g.153296241G>C | p.Ser346Arg | Missense | C-term | Mutation associated with disease | Rett syndrome-Classical | 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.464T>C | g.153296815A>G | p.Phe155Ser | Missense | MBD | Mutation associated with disease | Rett syndrome-Classical | 2 | View details |
| c.686C>T | g.153296593G>A | p.Ser229Leu | Missense | TRD | Polymorphism not causing disease | Rett syndrome-Classical | 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.1196C>T | g.153296083G>A | p.Pro399Leu | Missense | C-term | Polymorphism not causing disease | Not Rett synd. | 4 | 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.1330G>A | g.153295949C>T | p.Ala444Thr | Missense | C-term | Polymorphism not causing disease | Rett syndrome-Not certain | 14 | 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.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.[=/398G>A] | p.[=/Arg133His] | Missense | MBD | Unknown | Rett syndrome-Male variant | 1 | View details | |
| c.468C>G | g.153296811G>C | p.Asp156Glu | Missense | MBD | Unknown | Rett syndrome-Not certain | 15 | 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.517C>G | g.153296762G>C | p.Pro173Ala | Missense | Inter-domain region | Unknown | Rett syndrome-Not certain | 1 | 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.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.[1126C>T];[1126C>T] | p.[Pro376Ser];[Pro376Ser] | Missense | C-term | Polymorphism not causing disease | Not Rett synd. | 1 | View details | |
| c.1315G>A | g.153295964C>T | p.Ala439Thr | Missense | C-term | Unknown | Not Rett synd. | 7 | View details |
| c.1205C>T | g.153296074G>A | p.Pro402Leu | Missense | C-term | Polymorphism not causing disease | Not Rett synd. | 5 | View details |
| c.-156C>T | g.153363118G>A | p.(=) | missense | N-term | Unknown | Rett syndrome-classical | 4 | 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.-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.683C>G | g.153296596G>C | p.Thr228Ser | Missense | TRD | Polymorphism not causing disease | Rett syndrome-Not certain | 7 | 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.815C>T | g.153296464G>A | p.Pro272Leu | Missense | TRD | Polymorphism not causing disease | Rett syndrome-Not certain | 8 | View details |
| c.674C>T | g.153296605G>A | p.Pro225Leu | Missense | TRD | Unknown | Rett syndrome-Male variant | 2 | 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.397C>G | g.153296882G>C | p.Arg133Gly | Missense | MBD | Unknown | Not Known | 2 | View details |
| c.749G>A | g.153296530C>T | p.Arg250His | Missense | TRD | Polymorphism not causing disease | Rett syndrome-Not certain | 2 | View details |
| c.932C>T | g.153296347G>A | p.Thr311Met | Missense | C-term | Unknown | Rett syndrome-Not certain | 4 | View details |
| c.341G>C | g.153297694C>G | p.Gly114Ala | Missense | MBD | Unknown | Rett syndrome-Not certain | 1 | View details |
| c.881G>C | g.153296398C>G | p.Arg294Pro | Missense | TRD | Polymorphism not causing disease | Rett syndrome-Not certain | 2 | 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.1061G>T | g.153296218C>A | p.Arg354Leu | Missense | C-term | Polymorphism not causing disease | 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.[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.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 |
| c.1229G>A | g.153296050C>T | p.Ser410Asn | Missense | C-term | Unknown | Rett syndrome-Classical | 1 | View details |
| c.633G>C | g.153296646C>G | p.Arg211Ser | Missense | TRD | Polymorphism not causing disease | Rett syndrome-Classical | 3 | 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.1372C>T | g.153295907G>A | p.Arg458Cys | Missense | C-term | Polymorphism not causing disease | Not Known | 2 | View details |
| c.1081C>G | g.153296198G>C | p.Pro361Ala | Missense | C-term | Unknown | Not Known | 4 | 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.316C>G | g.153297719G>C | p.Arg106Gly | Missense | MBD | Unknown | Rett syndrome-Classical | 5 | 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.1061G>A | g.153296218C>T | p.Arg354His | Missense | C-term | Unknown | Not Rett synd. | 1 | 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.1127C>G | g.153296152G>C | p.Pro376Arg | Missense | C-term | Unknown | Not Rett synd. | 1 | 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.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.-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.617G>C | g.153296662C>G | p.Gly206Ala | missense | inter-domain region | Unknown | Not Rett synd. | 2 | View details |
| c.245A>G | g.153297790T>C | p.Lys82Arg | missense | MBD | Polymorphism not causing disease | Not Rett synd. | 1 | 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.547G>C | g.153296732C>G | p.Gly183Arg | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd. | 2 | 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.36G>C | g.153297999C>G | p.Lys12Asn | missense | N-term | Polymorphism not causing disease | Rett syndrome-not certain | 2 | 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.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.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.[=/473C>T];[473C>T] | p.[=/Thr158Met];[Thr158Met] | missense | MBD | Mutation associated with disease | 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.1133C>T | g.153296146G>A | p.Ala378Val | missense | C-term | Polymorphism not causing disease | Rett syndrome-not certain | 5 | View details |
| c.310T>C | g.153297725A>G | p.Trp104Arg | missense | MBD | 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.[473C>T];[473C>T] | p.[Thr158Met];[Thr158Met] | missense | MBD | Mutation associated with disease | 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.1072G>A | g.153296207C>T | p.Ala358Thr | missense | C-term | Polymorphism not causing disease | Rett syndrome-not certain | 5 | 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.[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.358T>G | g.153297677A>C | p.Tyr120Asp | missense | MBD | Unknown | Rett syndrome-not certain | 1 | 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.454C>G | g.153296825G>C | p.Pro152Ala | missense | MBD | Mutation associated with disease | Not Rett synd. | 2 | View details |
| c.-160A>G | g.153363122T>C | p.(=) | missense | N-term | Unknown | Rett syndrome-not certain | 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.925C>T | g.153296354G>A | p.Arg309Trp | missense | TRD | Unknown | Not Rett synd. | 5 | 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.471C>G | g.153296808G>C | p.Phe157Leu | missense | MBD | Unknown | Rett syndrome-classical | 1 | 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.365T>C | g.153297670A>G | p.Val122Ala | missense | MBD | Unknown | Not Rett synd. | 3 | 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.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.515C>T | g.153296764G>A | p.Pro172Leu | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd. | 2 | View details |
| c.[=/316C>T] | p.[=/Arg106Trp] | missense | MBD | Mutation associated with disease | Rett syndrome-male variant | 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.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.[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.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.673C>A | g.153296606G>T | p.Pro225Thr | missense | TRD | Mutation associated with disease | Not Known | 1 | 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.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.596C>A | g.153296683G>T | p.Pro199His | missense | inter-domain region | Unknown | Not Rett synd. | 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.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.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.[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.605G>A | g.153296674C>T | p.Ala202His | Missense | Inter-domain | Unknown | Rett syndrome-atypical | 1 | View details |
| c.1449G>A | g.153295830C>T | p.(=) | Missense | C-term | Polymorphism not causing disease | Not Rett synd. | 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.[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.535C>T | g.153296744G>A | p.Pro179Ser | missense | inter-domain | Unknown | Not Rett synd. | 1 | View details |
| CDKL5: c.119C>T | CDKL5: p.A40V | missense | CDKL5 | Mutation associated with disease | 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.398G>C | g.153296881C>G | p.Arg133Pro | missense | MBD | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
| c.1114C>T | g.153296165G>A | p.His372Tyr | missense | C-term | Unknown | Not Known | 1 | View details |
| c.-159T>C | g.153363121A>G | p.(=) | missense | N-term | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
| c.-395G>T | g.153363357C>A | Missense | 5'UTR | Polymorphism not causing disease | Not Rett synd. | 1 | View details | |
| c.1255C>T | g.153296024G>A | p.Pro419Ser | missense | C-term | Unknown | 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.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.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.441C > G | g.153296838G>C | p.Asp147Glu | missense | MBD | Unknown | Not Rett synd. | 2 | View details |
| c.455C>T | g.153296824G>A | p.Pro152Leu | missense | MBD | Mutation associated with disease | Not Rett synd. | 1 | View details |
| c.473C > T | g.153296806G>A | p.Thr158Met | missense | MBD | Mutation associated with disease | Rett syndrome-classical | 4 | 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.[1451G>C];[*98dupA] | p.[Arg484Thr];[=] | missense, 3'UTR | C-term, 3'UTR | Polymorphism not causing disease | Rett syndrome-classical | 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.[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.[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.[964C>G(;)*98dupA] | g.[153296315G>C;153295720dupT] | p.Pro322Ala | missense, 3'UTR variation | C-term | Unknown | Rett syndrome-classical | 1 | 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.[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.[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.[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.[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.[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.[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.[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.[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.[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.[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.[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.[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.[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.[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.[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.[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.695 G > T; c.880C > T] | p.[Gly232Val;Arg294*] | missense,nonsense | TRD | Mutation associated with disease | Rett syndrome- | 1 | 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.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.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.146C>A | g.153297889G>T | p.Ser49* | Nonsense | N-term | Mutation associated with disease | Rett syndrome-Not certain | 4 | 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.508C>T | g.153296771G>A | p.Gln170* | Nonsense | Inter-domain region | Mutation associated with disease | Rett syndrome-Classical | 7 | View details |
| c.423C>G | g.153296856G>C | p.Tyr141* | Nonsense | MBD | Mutation associated with disease | Rett syndrome-Classical | 16 | 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.598A>T | g.153296681T>A | p.Lys200* | Nonsense | Inter-domain region | Mutation associated with disease | Rett syndrome-Classical | 2 | 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.1216C>T | g.153296063G>A | p.Gln406* | Nonsense | C-term | Mutation associated with disease | Not Rett synd. | 6 | 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.[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.55C>T | g.153297980G>A | p.Gln19* | Nonsense | N-term | Mutation associated with disease | Rett syndrome-Atypical | 2 | 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.[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.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.1087A>T | g.153296192T>A | p.Lys363* | Nonsense | C-term | Mutation associated with disease | Not Known | 2 | View details |
| c.194C>G | g.153297841G>C | p.Ser65* | Nonsense | N-term | Mutation associated with disease | Not Known | 2 | View details |
| c.760A>T | g.153296519T>A | p.Lys254* | Nonsense | TRD | Mutation associated with disease | Not Known | 1 | View details |
| c.865A>T | g.153296414T>A | p.Lys289* | Nonsense | TRD | Mutation associated with disease | Rett syndrome-Classical | 1 | View details |
| Not known | p.Ser373* | Nonsense | C-term | 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.799A>T | g.153296480T>A | p.Lys267* | nonsense | TRD-NLS | Mutation associated with disease | Rett syndrome-classical | 2 | 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.203C>G | g.153297832G>C | p.Ser68* | nonsense | MBD | Mutation associated with disease | Rett syndrome-classical | 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.[1363G>T];[=] | p.[Glu455*];[=] | nonsense | C-term | Mutation associated with disease | Rett syndrome-male variant | 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.274G>T | g.153297761C>A | p.Gly92* | nonsense | MBD | 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.146C>G | g.153297889G>C | p.Ser49* | nonsense | N-term | 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.[=/360T>G] | p.[=/Tyr120*] | nonsense | MBD | Mutation associated with disease | Rett syndrome-atypical | 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.574A>T | g.153296705T>A | p.Lys192* | nonsense | inter-domain region | Mutation associated with disease | Rett syndrome-classical | 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.[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.[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.667A>T | g.153296612T>A | p.Lys223* | nonsense | 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 |
| 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.1205_1206insT | g.153296073_153296074insA | p.Glu404* | nonsense | C-term | Mutation associated with disease | Rett syndrome-classical | 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.[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.[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.[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.[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.[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.[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.[880C>T];[1326C>T] | p.[Arg294*];[Thr442Thr] | Nonsense, silent | TRD, C-term | Mutation associated with disease | Rett syndrome-Not certain | 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.[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.[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.[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.[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.[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.[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.[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.[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.1461A>C | g.153295818T>G | p.*487Cysext*27 | Nonstop | C-term | Unknown | Rett syndrome-Classical | 1 | View details |
| c.1461A>G | g.153295818T>C | p.*487Trpext*27 | Nonstop | C-term | Unknown | Not Known | 1 | View details |
| not certain | p.Leu386fs | Not known | C-term | Mutation associated with disease | Rett syndrome-Classical | 6 | View details | |
| complex rearrangement | complex rearrangement | Not known | Not known | Unknown | Rett syndrome-Classical | 1 | 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.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.[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.[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.[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.[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.[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.[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.[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.[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.[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.[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.[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.[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.-113C>T | g.153363075G>A | p.(=) | splicing | N-term | Mutation associated with disease | Rett syndrome-classical | 1 | View details |
Displaying 925 variants
To limit/filter the entries shown in this table (or to change the fields displayed), please go to the proband search page.
The construction, maintenance and upgrade of RettBASE have been made possible by the very generous financial support of the RettSyndrome.org, formerly International Rett Syndrome Foundation.
To cite RettBASE, please use :
Krishnaraj R, Ho G, Christodoulou J. 2017. RettBASE: Rett syndrome database update. Hum Mutat 2017;00:1-10. Pubmed: 28544139
orChristodoulou J, Grimm A, Maher T, Bennetts B. 2003. RettBASE: The IRSA MECP2 Variation Database - A New Mutation Database in Evolution. Hum Mutat 21:466-472. Pubmed: 12673788
orRettBASE: RettSyndrome.org Variation Database mecp2.chw.edu.au
The RettBASE databases and website are curated and maintained by Prof. John Christodoulou and Rahul Krishnaraj, Western Sydney Genetics Program, Children's Hospital Westmead, formerly with Andrew Grimm. We thank our collaborators for their input and support for this project.
This website is best viewed using Firefox v22.0 or above.
Copyright © Western Sydney Genetics Program, Children's Hospital Westmead, 2014
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