ClinVar Miner

List of variants reported as uncertain significance for atypical Rett syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 763
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HGVS dbSNP gnomAD frequency
NM_005249.5(FOXG1):c.221C>A (p.Pro74Gln) rs796052452 0.01958
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser) rs61752387 0.00108
NM_003159.2(CDKL5):c.-440G>T rs777401314 0.00040
NM_001110792.2(MECP2):c.*14G>A rs199963992 0.00037
NM_005249.5(FOXG1):c.209A>C (p.Gln70Pro) rs587783633 0.00026
NM_005249.5(FOXG1):c.456G>T (p.Gly152=) rs587783637 0.00020
NM_005249.5(FOXG1):c.218A>C (p.Gln73Pro) rs760663911 0.00015
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564 0.00012
NM_001323289.2(CDKL5):c.2555C>T (p.Pro852Leu) rs587783156 0.00012
NM_001323289.2(CDKL5):c.283-13A>G rs587783404 0.00011
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460 0.00010
NM_001110792.2(MECP2):c.1097G>T (p.Arg366Leu) rs61748387 0.00008
NM_001110792.2(MECP2):c.1066C>T (p.Arg356Trp) rs61752361 0.00006
NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser) rs61753000 0.00006
NM_001110792.2(MECP2):c.*8500C>G rs267608391 0.00005
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln) rs145790362 0.00005
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser) rs748459878 0.00005
NM_001323289.2(CDKL5):c.350A>G (p.Tyr117Cys) rs1189749755 0.00005
NM_000330.4(RS1):c.326+1131G>A rs267608664 0.00004
NM_001110792.2(MECP2):c.*767G>T rs267608354 0.00004
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu) rs61753016 0.00004
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) rs61750239 0.00004
NM_001323289.2(CDKL5):c.2567A>T (p.Asp856Val) rs770426025 0.00004
NM_003159.3(CDKL5):c.2941C>G (p.Arg981Gly) rs374054249 0.00004
NM_005249.5(FOXG1):c.1045T>G (p.Ser349Ala) rs796052472 0.00004
NM_001110792.2(MECP2):c.*92C>T rs62621672 0.00003
NM_001110792.2(MECP2):c.1138C>T (p.His380Tyr) rs781968415 0.00003
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) rs140258520 0.00003
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met) rs193922678 0.00003
NM_001110792.2(MECP2):c.260C>T (p.Pro87Leu) rs267608440 0.00003
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met) rs61751445 0.00003
NM_001323289.2(CDKL5):c.1027A>G (p.Ser343Gly) rs371313385 0.00003
NM_005249.5(FOXG1):c.1278G>A (p.Met426Ile) rs747138265 0.00003
NM_005249.5(FOXG1):c.506G>C (p.Gly169Ala) rs796052480 0.00003
NC_000023.11:g.18653501C>T rs745370971 0.00002
NM_000330.4(RS1):c.185-3188G>A rs267608665 0.00002
NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser) rs786204313 0.00002
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala) rs61748427 0.00002
NM_001110792.2(MECP2):c.604C>T (p.Arg202Cys) rs587783137 0.00002
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg) rs587783139 0.00002
NM_001110792.2(MECP2):c.895G>C (p.Ala299Pro) rs61750257 0.00002
NM_001323289.2(CDKL5):c.1396C>T (p.Arg466Trp) rs1310879766 0.00002
NM_001323289.2(CDKL5):c.1616G>C (p.Arg539Thr) rs1356745875 0.00002
NM_001323289.2(CDKL5):c.1673G>A (p.Arg558His) rs763991639 0.00002
NM_001323289.2(CDKL5):c.238C>T (p.Arg80Cys) rs1466254546 0.00002
NM_001323289.2(CDKL5):c.2408C>T (p.Thr803Met) rs1005844306 0.00002
NM_001323289.2(CDKL5):c.2464C>T (p.Arg822Cys) rs780609419 0.00002
NM_001323289.2(CDKL5):c.2502G>T (p.Gln834His) rs1334119558 0.00002
NM_001323289.2(CDKL5):c.2714G>A (p.Gly905Asp) rs1475195158 0.00002
NM_001323289.2(CDKL5):c.844C>G (p.Pro282Ala) rs1926077779 0.00002
NM_005249.5(FOXG1):c.271C>A (p.Pro91Thr) rs1555321245 0.00002
NC_000023.11:g.18646009G>A rs369009993 0.00001
NC_000023.11:g.18650554G>A rs760568446 0.00001
NC_000023.11:g.18653480G>A rs1018524335 0.00001
NM_000330.4(RS1):c.184+3170G>A rs764540699 0.00001
NM_000330.4(RS1):c.326+1159C>G rs587783160 0.00001
NM_001110792.2(MECP2):c.1018C>G (p.Leu340Val) rs267608556 0.00001
NM_001110792.2(MECP2):c.1199C>T (p.Pro400Leu) rs61753006 0.00001
NM_001110792.2(MECP2):c.1238G>A (p.Ser413Asn) rs62707562 0.00001
NM_001110792.2(MECP2):c.1376C>T (p.Ala459Val) rs61753978 0.00001
NM_001110792.2(MECP2):c.289C>T (p.Arg97Cys) rs1064797047 0.00001
NM_001110792.2(MECP2):c.515C>G (p.Thr172Ser) rs61748414 0.00001
NM_001110792.2(MECP2):c.554C>G (p.Pro185Arg) rs267608492 0.00001
NM_001110792.2(MECP2):c.62+5380C>T rs267608324 0.00001
NM_001110792.2(MECP2):c.844C>G (p.Arg282Gly) rs61750240 0.00001
NM_001323289.2(CDKL5):c.1051G>A (p.Val351Ile) rs587783150 0.00001
NM_001323289.2(CDKL5):c.1076G>C (p.Gly359Ala) rs1207429249 0.00001
NM_001323289.2(CDKL5):c.1094G>A (p.Ser365Asn) rs1279388510 0.00001
NM_001323289.2(CDKL5):c.1196A>C (p.Asn399Thr) rs267608611 0.00001
NM_001323289.2(CDKL5):c.1230A>C (p.Glu410Asp) rs762247736 0.00001
NM_001323289.2(CDKL5):c.1234A>G (p.Lys412Glu) rs770340766 0.00001
NM_001323289.2(CDKL5):c.1337C>T (p.Ser446Leu) rs1926273872 0.00001
NM_001323289.2(CDKL5):c.1397G>A (p.Arg466Gln) rs748907380 0.00001
NM_001323289.2(CDKL5):c.13A>G (p.Asn5Asp) rs767844474 0.00001
NM_001323289.2(CDKL5):c.1600A>G (p.Arg534Gly) rs749639424 0.00001
NM_001323289.2(CDKL5):c.1676G>A (p.Arg559Gln) rs1926294168 0.00001
NM_001323289.2(CDKL5):c.1678A>G (p.Thr560Ala) rs587783400 0.00001
NM_001323289.2(CDKL5):c.1909G>C (p.Ala637Pro) rs1330464637 0.00001
NM_001323289.2(CDKL5):c.2014A>T (p.Thr672Ser) rs1926449880 0.00001
NM_001323289.2(CDKL5):c.2107C>G (p.Leu703Val) rs776965205 0.00001
NM_001323289.2(CDKL5):c.2318A>G (p.Glu773Gly) rs1218990219 0.00001
NM_001323289.2(CDKL5):c.2377G>A (p.Val793Ile) rs754699773 0.00001
NM_001323289.2(CDKL5):c.2444G>T (p.Ser815Ile) rs1449425691 0.00001
NM_001323289.2(CDKL5):c.2490G>C (p.Gln830His) rs1485485459 0.00001
NM_001323289.2(CDKL5):c.2653G>A (p.Gly885Arg) rs398123694 0.00001
NM_001323289.2(CDKL5):c.2684C>T (p.Pro895Leu) rs587783157 0.00001
NM_001323289.2(CDKL5):c.375G>C (p.Trp125Cys) rs372825651 0.00001
NM_001323289.2(CDKL5):c.403+5G>A rs1342864362 0.00001
NM_001323289.2(CDKL5):c.473G>A (p.Arg158His) rs757402424 0.00001
NM_001323289.2(CDKL5):c.556G>A (p.Ala186Thr) rs765304446 0.00001
NM_001323289.2(CDKL5):c.743G>A (p.Arg248Gln) rs1064795857 0.00001
NM_001323289.2(CDKL5):c.7A>T (p.Ile3Phe) rs138539908 0.00001
NM_001323289.2(CDKL5):c.904C>T (p.Leu302Phe) rs267608547 0.00001
NM_001323289.2(CDKL5):c.973A>G (p.Asn325Asp) rs756721244 0.00001
NM_003159.3(CDKL5):c.2809_2810insA (p.Cys937Ter) rs1158418673 0.00001
NM_003159.3(CDKL5):c.2866C>T (p.Arg956Cys) rs1398393336 0.00001
NM_003159.3(CDKL5):c.2890T>C (p.Tyr964His) rs781435432 0.00001
NM_005249.5(FOXG1):c.1058A>G (p.Asn353Ser) rs749879411 0.00001
NM_005249.5(FOXG1):c.1195A>T (p.Thr399Ser) rs765839485 0.00001
NM_005249.5(FOXG1):c.1276A>G (p.Met426Val) rs1161131663 0.00001
NM_005249.5(FOXG1):c.1316C>T (p.Ala439Val) rs770118439 0.00001
NM_005249.5(FOXG1):c.131A>C (p.His44Pro) rs1555321183 0.00001
NM_005249.5(FOXG1):c.134C>T (p.Pro45Leu) rs780437753 0.00001
NM_005249.5(FOXG1):c.193C>T (p.Pro65Ser) rs1165833768 0.00001
NM_005249.5(FOXG1):c.253C>T (p.Pro85Ser) rs1881786716 0.00001
NM_005249.5(FOXG1):c.263G>A (p.Arg88Gln) rs1046668279 0.00001
NM_005249.5(FOXG1):c.404G>T (p.Gly135Val) rs1350013753 0.00001
NC_000014.8:g.(?_29236466)_(29237975_?)dup
NC_000014.8:g.(?_29236486)_(29237955_?)dup
NC_000023.10:g.(?_17393861)_(18671684_?)dup
NC_000023.10:g.(?_17393881)_(18665472_?)dup
NC_000023.10:g.(?_17393881)_(20284750_?)dup
NC_000023.10:g.(?_18442725)_(18672749_?)dup
NC_000023.10:g.(?_18525053)_(18616753_?)dup
NC_000023.10:g.(?_18525053)_(18623008_?)dup
NC_000023.10:g.(?_18525053)_(18665462_?)dup
NC_000023.10:g.(?_18525053)_(18671664_?)dup
NC_000023.10:g.(?_18525055)_(18528974_?)dup
NC_000023.10:g.(?_18525211)_(18671669_?)dup
NC_000023.10:g.(?_18599991)_(18600090_?)dup
NC_000023.10:g.(?_18660124)_(18690188_?)dup
NC_000023.10:g.(?_18668510)_(18668732_?)dup
NC_000023.10:g.(?_18671532)_(18671664_?)del
NC_000023.10:g.(?_18671532)_(18671664_?)dup
NC_000023.10:g.(?_18671542)_(18671664_?)del
NC_000023.11:g.(?_18564457)_(18653564_?)dup
NC_000023.11:g.(?_18653412)_(18653564_?)del
NC_000023.11:g.18646012G>A
NC_000023.11:g.18646036C>T
NC_000023.11:g.18646049C>T
NC_000023.11:g.18646059_18646060delinsTA rs2147192668
NC_000023.11:g.18646068G>A rs2147192682
NC_000023.11:g.18646084C>T rs2147192703
NC_000023.11:g.18646096G>T
NC_000023.11:g.18650442C>G rs200236257
NC_000023.11:g.18650452C>A
NC_000023.11:g.18650452C>T
NC_000023.11:g.18650460C>T rs1927981327
NC_000023.11:g.18650467G>A
NC_000023.11:g.18650469G>A
NC_000023.11:g.18650485T>A rs2147197777
NC_000023.11:g.18650488C>G
NC_000023.11:g.18650491G>A
NC_000023.11:g.18650497C>T
NC_000023.11:g.18650499C>G
NC_000023.11:g.18650527C>T
NC_000023.11:g.18650535T>A
NC_000023.11:g.18650541A>G
NC_000023.11:g.18650544C>T rs1927986563
NC_000023.11:g.18650548A>G
NC_000023.11:g.18650592G>T
NC_000023.11:g.18650593G>A rs1927989790
NC_000023.11:g.18653450G>T
NC_000023.11:g.18653477A>G rs2147201225
NC_000023.11:g.18653492A>G
NC_000023.11:g.18653517T>A rs1928138947
NC_000023.11:g.18653537G>T
NM_000330.4(RS1):c.185-3221G>A rs374054249
NM_000330.4(RS1):c.326+1231G>A rs786204995
NM_001110792.1(MECP2):c.-46_-45delGC rs782107551
NM_001110792.2(MECP2):c.*1134G>A rs267608390
NM_001110792.2(MECP2):c.*122del rs267608342
NM_001110792.2(MECP2):c.*204G>A rs267608352
NM_001110792.2(MECP2):c.*4084GT[1] rs267608367
NM_001110792.2(MECP2):c.*796_*822del rs267608375
NM_001110792.2(MECP2):c.*875dup rs267608364
NM_001110792.2(MECP2):c.*92C>G rs62621672
NM_001110792.2(MECP2):c.-27_-26delinsTT rs786205039
NM_001110792.2(MECP2):c.1000C>G (p.Pro334Ala) rs61751449
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu) rs61751450
NM_001110792.2(MECP2):c.1001_1006del (p.Pro334_Leu335del) rs61751452
NM_001110792.2(MECP2):c.1025AGA[1] (p.Lys343del) rs61751456
NM_001110792.2(MECP2):c.1028A>G (p.Lys343Arg) rs267608557
NM_001110792.2(MECP2):c.1035G>T (p.Gly345=) rs61751451
NM_001110792.2(MECP2):c.1050C>T (p.Thr350=) rs267608400
NM_001110792.2(MECP2):c.1051T>C (p.Cys351Arg) rs267608560
NM_001110792.2(MECP2):c.1061C>G (p.Pro354Arg) rs1569548372
NM_001110792.2(MECP2):c.1065dup (p.Arg356fs) rs61751457
NM_001110792.2(MECP2):c.1066C>G (p.Arg356Gly) rs61752361
NM_001110792.2(MECP2):c.1066_1231delinsGT (p.Arg356fs) rs1557135402
NM_001110792.2(MECP2):c.1074C>G (p.Ser358Arg) rs61752365
NM_001110792.2(MECP2):c.1075_1086del (p.Lys359_Ser362del)
NM_001110792.2(MECP2):c.1077_*29del (p.Lys359_Ter499delinsXaa) rs1557134784
NM_001110792.2(MECP2):c.1079_1209delinsTG (p.Glu360_Pro403delinsVal) rs1557135603
NM_001110792.2(MECP2):c.1084_1131del (p.Ser362_Glu377del) rs267608562
NM_001110792.2(MECP2):c.1087_1101del (p.Pro363_Ser367del) rs267608384
NM_001110792.2(MECP2):c.1097_1192del (p.Arg366_Pro397del) rs1557135746
NM_001110792.2(MECP2):c.1099AGC[2] (p.Ser369del) rs267608564
NM_001110792.2(MECP2):c.1101C>A (p.Ser367Arg) rs267608563
NM_001110792.2(MECP2):c.1129_1131del (p.Glu377del) rs786205032
NM_001110792.2(MECP2):c.1132_1237del (p.His378fs) rs1557135317
NM_001110792.2(MECP2):c.1133_*13del (p.His378_Ter499delinsXaa) rs1557134819
NM_001110792.2(MECP2):c.1134CCA[2] (p.His384del) rs61752381
NM_001110792.2(MECP2):c.1134CCA[4] (p.His384dup) rs61752381
NM_001110792.2(MECP2):c.1140C>T (p.His380=) rs61752382
NM_001110792.2(MECP2):c.1141_1152del (p.His381_His384del) rs267608371
NM_001110792.2(MECP2):c.1146C>G (p.His382Gln) rs2065927241
NM_001110792.2(MECP2):c.1151_1237del (p.His384_Ser413delinsArg) rs1557135313
NM_001110792.2(MECP2):c.1153_1239del (p.Ser385_Ser413del) rs1557135279
NM_001110792.2(MECP2):c.1159_1227del (p.Ser387_Glu409del) rs1557135441
NM_001110792.2(MECP2):c.1163C>G (p.Pro388Arg) rs61752976
NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs) rs1557135353
NM_001110792.2(MECP2):c.1169C>G (p.Ala390Gly) rs201314910
NM_001110792.2(MECP2):c.1177C>G (p.Pro393Ala) rs61752981
NM_001110792.2(MECP2):c.1181_1207del (p.Leu394_Pro402del) rs587783094
NM_001110792.2(MECP2):c.1184T>C (p.Leu395Pro) rs1060499622
NM_001110792.2(MECP2):c.1184_1195del (p.Leu395_Leu398del) rs782767712
NM_001110792.2(MECP2):c.1184_1213del (p.Leu395_Glu404del) rs267608350
NM_001110792.2(MECP2):c.1187_1219del (p.Pro396_Ser407delinsArg) rs267608575
NM_001110792.2(MECP2):c.1188_1328del (p.Pro397_Lys443del)
NM_001110792.2(MECP2):c.1189_1224del (p.Pro397_Ser408del) rs786205033
NM_001110792.2(MECP2):c.1191_1202del (p.Leu398_Pro401del) rs782174572
NM_001110792.2(MECP2):c.1191_1244del (p.Leu398_Pro415del) rs1557135259
NM_001110792.2(MECP2):c.1192_1233del (p.Leu398_Pro411del) rs267608579
NM_001110792.2(MECP2):c.1192_1236del (p.Leu398_Thr412del) rs267608581
NM_001110792.2(MECP2):c.1193_1228del (p.Leu398_Asp410delinsHis) rs63749028
NM_001110792.2(MECP2):c.1195_1494del (p.Pro399_Ser498del) rs1557134858
NM_001110792.2(MECP2):c.1196_1216del (p.Pro399_Glu406delinsGln) rs267608594
NM_001110792.2(MECP2):c.1196_1236delinsAGGGGTGG (p.Pro399_Thr412delinsGlnGlyTrp) rs267608343
NM_001110792.2(MECP2):c.1197_1205del (p.Pro401_Pro403del) rs267608401
NM_001110792.2(MECP2):c.1197_1436del (p.Pro400_Pro479del) rs1557134946
NM_001110792.2(MECP2):c.1198C>A (p.Pro400Thr) rs61753000
NM_001110792.2(MECP2):c.1198_1227del (p.Pro400_Glu409del) rs63749034
NM_001110792.2(MECP2):c.1199_1237del (p.Pro400_Ser413delinsArg) rs267608602
NM_001110792.2(MECP2):c.1199_1252del (p.Pro400_Pro417del) rs1557135234
NM_001110792.2(MECP2):c.1200_1208del (p.Pro401_Pro403del) rs267608604
NM_001110792.2(MECP2):c.1200_1244del (p.Pro401_Pro415del) rs267608605
NM_001110792.2(MECP2):c.1205C>T (p.Pro402Leu)
NM_001110792.2(MECP2):c.1212_1229del (p.Glu404_Glu409del) rs267608335
NM_001110792.2(MECP2):c.1216_1217insT (p.Glu406fs) rs786205021
NM_001110792.2(MECP2):c.1225_1267inv (p.Glu409_Ser423delinsCysCysSerSerProGlyAlaGlnGlyGlyTrpTrpGlyProArg)
NM_001110792.2(MECP2):c.1229A>C (p.Asp410Ala)
NM_001110792.2(MECP2):c.1233_1273inv (p.Thr412_Cys425delinsAspAlaAlaAlaGlnValLeuGlyLeuArgGlyAlaGlyGly)
NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer) rs781843758
NM_001110792.2(MECP2):c.1246G>A (p.Glu416Lys)
NM_001110792.2(MECP2):c.1265G>A (p.Ser422Asn) rs267608616
NM_001110792.2(MECP2):c.1268_1276del (p.Ser423_Cys425del) rs63749027
NM_001110792.2(MECP2):c.1269_1279del (p.Ser423fs) rs786205036
NM_001110792.2(MECP2):c.1273T>C (p.Cys425Arg) rs797045692
NM_001110792.2(MECP2):c.1286A>T (p.Lys429Met) rs61753968
NM_001110792.2(MECP2):c.1291C>G (p.Pro431Ala)
NM_001110792.2(MECP2):c.1328A>C (p.Lys443Thr) rs2065906320
NM_001110792.2(MECP2):c.1351_1359dup (p.Ala451_Ala453dup) rs2065905269
NM_001110792.2(MECP2):c.1360A>G (p.Thr454Ala) rs61753974
NM_001110792.2(MECP2):c.1374_1379del (p.Ala459_Glu460del) rs786205022
NM_001110792.2(MECP2):c.1420_1421del (p.Val474fs)
NM_001110792.2(MECP2):c.1429T>C (p.Ser477Pro)
NM_001110792.2(MECP2):c.1439_1444del (p.Arg480_Pro481del) rs267608632
NM_001110792.2(MECP2):c.1444_1447delinsTG (p.Asn482fs) rs786205023
NM_001110792.2(MECP2):c.1448G>C (p.Arg483Thr) rs1057520310
NM_001110792.2(MECP2):c.1453G>C (p.Glu485Gln)
NM_001110792.2(MECP2):c.1466G>C (p.Ser489Thr) rs267608328
NM_001110792.2(MECP2):c.1483G>T (p.Glu495Ter) rs587777421
NM_001110792.2(MECP2):c.1484_*29del (p.Glu495fs) rs267608393
NM_001110792.2(MECP2):c.1485G>A (p.Glu495=)
NM_001110792.2(MECP2):c.1490_1493del (p.Val497fs) rs267608640
NM_001110792.2(MECP2):c.1497A>C (p.Ter499Cys) rs267608642
NM_001110792.2(MECP2):c.1A>G (p.Met1Val) rs587783132
NM_001110792.2(MECP2):c.1A>T (p.Met1Leu) rs587783132
NM_001110792.2(MECP2):c.293C>G (p.Ser98Cys) rs61754445
NM_001110792.2(MECP2):c.2T>C (p.Met1Thr) rs2066907057
NM_001110792.2(MECP2):c.308G>A (p.Arg103Gln) rs782177397
NM_001110792.2(MECP2):c.30delinsGA (p.Ser10fs) rs786205040
NM_001110792.2(MECP2):c.313C>T (p.Pro105Ser) rs61754447
NM_001110792.2(MECP2):c.325G>T (p.Asp109Tyr) rs61754448
NM_001110792.2(MECP2):c.327C>A (p.Asp109Glu) rs61754449
NM_001110792.2(MECP2):c.331A>C (p.Thr111Pro) rs2065984609
NM_001110792.2(MECP2):c.334C>G (p.Leu112Val) rs28935168
NM_001110792.2(MECP2):c.335T>G (p.Leu112Arg) rs61754451
NM_001110792.2(MECP2):c.337C>T (p.Pro113Ser) rs61754452
NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg) rs61754453
NM_001110792.2(MECP2):c.33AGG[7] (p.Gly15_Gly16dup) rs587783744
NM_001110792.2(MECP2):c.344G>A (p.Gly115Asp) rs267608450
NM_001110792.2(MECP2):c.346T>C (p.Trp116Arg) rs267608451
NM_001110792.2(MECP2):c.352C>G (p.Arg118Gly) rs28934907
NM_001110792.2(MECP2):c.353G>T (p.Arg118Leu) rs61754457
NM_001110792.2(MECP2):c.359T>A (p.Leu120His) rs61754458
NM_001110792.2(MECP2):c.367A>G (p.Arg123Gly) rs61754459
NM_001110792.2(MECP2):c.377G>C (p.Gly126Ala) rs61755760
NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys) rs267608388
NM_001110792.2(MECP2):c.394T>G (p.Tyr132Asp) rs267608454
NM_001110792.2(MECP2):c.400G>A (p.Val134Met) rs267608455
NM_001110792.2(MECP2):c.401T>C (p.Val134Ala) rs267608456
NM_001110792.2(MECP2):c.408G>C (p.Leu136Phe) rs61755763
NM_001110792.2(MECP2):c.408G>T (p.Leu136Phe) rs61755763
NM_001110792.2(MECP2):c.413+11G>C
NM_001110792.2(MECP2):c.413+2T>G rs267608458
NM_001110792.2(MECP2):c.413+30G>A rs786205014
NM_001110792.2(MECP2):c.413A>G (p.Asn138Ser) rs786205037
NM_001110792.2(MECP2):c.414-14G>A rs267608467
NM_001110792.2(MECP2):c.414-74C>G rs2071569
NM_001110792.2(MECP2):c.416C>T (p.Pro139Leu) rs267608387
NM_001110792.2(MECP2):c.419A>C (p.Gln140Pro) rs61748383
NM_001110792.2(MECP2):c.422G>T (p.Gly141Val) rs61748384
NM_001110792.2(MECP2):c.428C>A (p.Ala143Asp) rs267608470
NM_001110792.2(MECP2):c.433C>G (p.Arg145Gly) rs28934904
NM_001110792.2(MECP2):c.434G>A (p.Arg145His) rs61748389
NM_001110792.2(MECP2):c.434G>T (p.Arg145Leu) rs61748389
NM_001110792.2(MECP2):c.436T>C (p.Ser146Pro) rs267608471
NM_001110792.2(MECP2):c.437C>T (p.Ser146Phe) rs61748390
NM_001110792.2(MECP2):c.439A>G (p.Lys147Glu) rs61748391
NM_001110792.2(MECP2):c.449T>C (p.Leu150Ser) rs267608475
NM_001110792.2(MECP2):c.458A>G (p.Tyr153Cys) rs61748395
NM_001110792.2(MECP2):c.458dup (p.Tyr153Ter) rs61748394
NM_001110792.2(MECP2):c.463G>A (p.Glu155Lys) rs1233476760
NM_001110792.2(MECP2):c.465A>G (p.Glu155=) rs2065960775
NM_001110792.2(MECP2):c.467A>G (p.Lys156Arg) rs786205016
NM_001110792.2(MECP2):c.475G>A (p.Asp159Asn) rs61748401
NM_001110792.2(MECP2):c.482C>A (p.Ser161Tyr)
NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly) rs61748403
NM_001110792.2(MECP2):c.48_55dup (p.Glu19fs) rs786205043
NM_001110792.2(MECP2):c.499T>A (p.Phe167Ile) rs61748406
NM_001110792.2(MECP2):c.49G>A (p.Glu17Lys) rs786205046
NM_001110792.2(MECP2):c.500T>G (p.Phe167Cys) rs28934905
NM_001110792.2(MECP2):c.503A>C (p.Asp168Ala) rs61748407
NM_001110792.2(MECP2):c.503A>G (p.Asp168Gly) rs61748407
NM_001110792.2(MECP2):c.504C>T (p.Asp168=) rs61748408
NM_001110792.2(MECP2):c.505T>A (p.Phe169Ile) rs61748410
NM_001110792.2(MECP2):c.507C>G (p.Phe169Leu) rs267608484
NM_001110792.2(MECP2):c.508A>G (p.Thr170Ala) rs61748411
NM_001110792.2(MECP2):c.517G>T (p.Gly173Trp) rs61748416
NM_001110792.2(MECP2):c.518G>A (p.Gly173Glu) rs61748417
NM_001110792.2(MECP2):c.518G>T (p.Gly173Val) rs61748417
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.536G>C (p.Arg179Pro) rs2148663951
NM_001110792.2(MECP2):c.550C>T (p.Pro184Ser) rs61748426
NM_001110792.2(MECP2):c.553C>A (p.Pro185Thr) rs61748427
NM_001110792.2(MECP2):c.563C>T (p.Pro188Leu) rs61749701
NM_001110792.2(MECP2):c.564C>A (p.Pro188=)
NM_001110792.2(MECP2):c.571C>T (p.Pro191Ser)
NM_001110792.2(MECP2):c.578C>T (p.Ala193Val) rs61749705
NM_001110792.2(MECP2):c.62+1G>A rs786205048
NM_001110792.2(MECP2):c.62+32135T>G
NM_001110792.2(MECP2):c.63-55G>A rs267608414
NM_001110792.2(MECP2):c.63-866C>T
NM_001110792.2(MECP2):c.63-8C>G rs267608410
NM_001110792.2(MECP2):c.63-9A>G rs267608413
NM_001110792.2(MECP2):c.64G>C (p.Glu22Gln) rs61754421
NM_001110792.2(MECP2):c.653G>A (p.Gly218Asp) rs63485860
NM_001110792.2(MECP2):c.663G>A (p.Val221=) rs786205017
NM_001110792.2(MECP2):c.665A>T (p.Lys222Ile) rs61749730
NM_001110792.2(MECP2):c.671_691del (p.Val224_Lys231delinsGlu) rs267608509
NM_001110792.2(MECP2):c.673C>G (p.Leu225Val) rs782473355
NM_001110792.2(MECP2):c.685C>T (p.Pro229Ser) rs786205894
NM_001110792.2(MECP2):c.6CGC[4] (p.Ala7_Ala8del) rs398123566
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup) rs398123566
NM_001110792.2(MECP2):c.714T>G (p.Phe238Leu) rs878853313
NM_001110792.2(MECP2):c.715C>G (p.Gln239Glu) rs61749737
NM_001110792.2(MECP2):c.72G>C (p.Lys24Asn) rs61754422
NM_001110792.2(MECP2):c.746G>T (p.Gly249Val) rs62846063
NM_001110792.2(MECP2):c.788C>G (p.Pro263Arg)
NM_001110792.2(MECP2):c.818C>G (p.Pro273Arg)
NM_001110792.2(MECP2):c.857_1123del (p.Ser286_Pro374del)
NM_001110792.2(MECP2):c.872C>T (p.Ala291Val) rs61750249
NM_001110792.2(MECP2):c.886A>G (p.Lys296Glu) rs61750255
NM_001110792.2(MECP2):c.893A>G (p.Lys298Arg) rs267608533
NM_001110792.2(MECP2):c.907T>G (p.Ser303Ala) rs61751360
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile) rs61751370
NM_001110792.2(MECP2):c.936_944del (p.Leu313_Ile315del) rs267608545
NM_001110792.2(MECP2):c.937C>G (p.Leu313Val) rs1557136251
NM_001110792.2(MECP2):c.940C>A (p.Pro314Thr) rs61751373
NM_001110792.2(MECP2):c.940C>G (p.Pro314Ala) rs61751373
NM_001110792.2(MECP2):c.940C>T (p.Pro314Ser) rs61751373
NM_001110792.2(MECP2):c.941C>A (p.Pro314His) rs61749723
NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu) rs61749723
NM_001110792.2(MECP2):c.944T>G (p.Ile315Ser) rs267608549
NM_001110792.2(MECP2):c.945C>G (p.Ile315Met) rs61751439
NM_001110792.2(MECP2):c.946A>G (p.Lys316Glu) rs61751440
NM_001110792.2(MECP2):c.949A>G (p.Lys317Glu) rs267608551
NM_001110792.2(MECP2):c.950A>G (p.Lys317Arg) rs61751441
NM_001110792.2(MECP2):c.956_976del (p.Lys319_Ser325del)
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001110792.2(MECP2):c.989A>C (p.Glu330Ala) rs61751448
NM_001110792.2(MECP2):c.991G>A (p.Val331Met) rs1569548388
NM_001110792.2(MECP2):c.997A>G (p.Lys333Glu) rs2148661783
NM_001323289.2(CDKL5):c.-189C>T rs786204994
NM_001323289.2(CDKL5):c.100-3C>G rs2147132216
NM_001323289.2(CDKL5):c.1012C>T (p.His338Tyr)
NM_001323289.2(CDKL5):c.1033G>A (p.Asp345Asn)
NM_001323289.2(CDKL5):c.103A>C (p.Thr35Pro) rs1924898828
NM_001323289.2(CDKL5):c.103A>G (p.Thr35Ala)
NM_001323289.2(CDKL5):c.1049G>A (p.Ser350Asn)
NM_001323289.2(CDKL5):c.1075G>A (p.Gly359Ser)
NM_001323289.2(CDKL5):c.1102A>G (p.Asn368Asp)
NM_001323289.2(CDKL5):c.1166A>T (p.Gln389Leu)
NM_001323289.2(CDKL5):c.1188T>A (p.Asp396Glu)
NM_001323289.2(CDKL5):c.1196A>G (p.Asn399Ser) rs267608611
NM_001323289.2(CDKL5):c.1213C>G (p.Leu405Val) rs1555951984
NM_001323289.2(CDKL5):c.1230A>T (p.Glu410Asp)
NM_001323289.2(CDKL5):c.1266C>A (p.Asp422Glu) rs762708691
NM_001323289.2(CDKL5):c.1273C>T (p.Pro425Ser) rs1926271094
NM_001323289.2(CDKL5):c.1288G>A (p.Gly430Arg)
NM_001323289.2(CDKL5):c.1291A>G (p.Thr431Ala)
NM_001323289.2(CDKL5):c.1296_1298del (p.Lys432_Tyr433delinsAsn) rs1555951997
NM_001323289.2(CDKL5):c.1297T>C (p.Tyr433His)
NM_001323289.2(CDKL5):c.1314C>A (p.Ser438Arg)
NM_001323289.2(CDKL5):c.1328A>T (p.Asn443Ile)
NM_001323289.2(CDKL5):c.1344G>A (p.Met448Ile) rs1555952013
NM_001323289.2(CDKL5):c.135G>T (p.Lys45Asn) rs1602263431
NM_001323289.2(CDKL5):c.1400A>C (p.His467Pro) rs267608631
NM_001323289.2(CDKL5):c.1404C>G (p.Ser468Arg) rs1926278693
NM_001323289.2(CDKL5):c.1414A>G (p.Thr472Ala)
NM_001323289.2(CDKL5):c.1477A>T (p.Ser493Cys) rs2147160801
NM_001323289.2(CDKL5):c.1540A>G (p.Ser514Gly)
NM_001323289.2(CDKL5):c.1552C>T (p.Pro518Ser)
NM_001323289.2(CDKL5):c.1592C>T (p.Thr531Ile)
NM_001323289.2(CDKL5):c.1602A>C (p.Arg534Ser) rs1385183228
NM_001323289.2(CDKL5):c.1613C>A (p.Thr538Lys)
NM_001323289.2(CDKL5):c.1640G>A (p.Arg547Lys)
NM_001323289.2(CDKL5):c.1657G>A (p.Gly553Arg)
NM_001323289.2(CDKL5):c.1667A>G (p.Asp556Gly) rs2147160978
NM_001323289.2(CDKL5):c.1669T>C (p.Ser557Pro)
NM_001323289.2(CDKL5):c.1689A>T (p.Arg563Ser) rs2147161018
NM_001323289.2(CDKL5):c.16A>G (p.Ile6Val)
NM_001323289.2(CDKL5):c.1721C>A (p.Pro574Gln) rs199897804
NM_001323289.2(CDKL5):c.1731G>A (p.Met577Ile) rs757573258
NM_001323289.2(CDKL5):c.1766A>G (p.His589Arg) rs2147161126
NM_001323289.2(CDKL5):c.1767C>A (p.His589Gln)
NM_001323289.2(CDKL5):c.1772C>A (p.Ser591Tyr)
NM_001323289.2(CDKL5):c.178G>C (p.Glu60Gln) rs1925262394
NM_001323289.2(CDKL5):c.1799G>T (p.Ser600Ile) rs2147161196
NM_001323289.2(CDKL5):c.179A>G (p.Glu60Gly)
NM_001323289.2(CDKL5):c.17T>C (p.Ile6Thr)
NM_001323289.2(CDKL5):c.1803C>G (p.Pro601=)
NM_001323289.2(CDKL5):c.1837A>G (p.Met613Val)
NM_001323289.2(CDKL5):c.1874T>G (p.Leu625Trp)
NM_001323289.2(CDKL5):c.1883G>A (p.Ser628Asn) rs2147161274
NM_001323289.2(CDKL5):c.1888A>C (p.Ser630Arg)
NM_001323289.2(CDKL5):c.1891A>G (p.Ile631Val) rs1569219817
NM_001323289.2(CDKL5):c.1922G>T (p.Ser641Ile) rs1602287027
NM_001323289.2(CDKL5):c.1930C>T (p.Leu644Phe) rs1057524785
NM_001323289.2(CDKL5):c.1948G>A (p.Gly650Arg) rs1602289171
NM_001323289.2(CDKL5):c.1952A>G (p.Glu651Gly)
NM_001323289.2(CDKL5):c.1961C>T (p.Pro654Leu)
NM_001323289.2(CDKL5):c.1969A>G (p.Met657Val)
NM_001323289.2(CDKL5):c.1982G>T (p.Arg661Ile)
NM_001323289.2(CDKL5):c.1988C>T (p.Ser663Leu)
NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe) rs267608437
NM_001323289.2(CDKL5):c.2013C>T (p.Gly671=) rs1602289218
NM_001323289.2(CDKL5):c.2027A>G (p.His676Arg)
NM_001323289.2(CDKL5):c.2032C>T (p.Arg678Cys)
NM_001323289.2(CDKL5):c.2048G>A (p.Gly683Asp)
NM_001323289.2(CDKL5):c.2053G>A (p.Val685Met)
NM_001323289.2(CDKL5):c.2057A>T (p.Tyr686Phe) rs2047709269
NM_001323289.2(CDKL5):c.2066C>T (p.Pro689Leu) rs1326292288
NM_001323289.2(CDKL5):c.206A>C (p.Gln69Pro)
NM_001323289.2(CDKL5):c.2070C>G (p.His690Gln) rs2147164673
NM_001323289.2(CDKL5):c.2074G>A (p.Asp692Asn) rs2147164679
NM_001323289.2(CDKL5):c.2083A>G (p.Thr695Ala)
NM_001323289.2(CDKL5):c.2099A>G (p.Asn700Ser)
NM_001323289.2(CDKL5):c.2111A>G (p.Tyr704Cys)
NM_001323289.2(CDKL5):c.2120C>G (p.Pro707Arg)
NM_001323289.2(CDKL5):c.2129G>A (p.Arg710Lys)
NM_001323289.2(CDKL5):c.212A>G (p.Asn71Ser) rs1925264314
NM_001323289.2(CDKL5):c.2152+5G>T rs1926476615
NM_001323289.2(CDKL5):c.2153-64_2153-5delinsG rs1926607521
NM_001323289.2(CDKL5):c.2157A>G (p.Pro719=)
NM_001323289.2(CDKL5):c.216T>G (p.Ile72Met)
NM_001323289.2(CDKL5):c.2171A>G (p.Asp724Gly)
NM_001323289.2(CDKL5):c.2171A>T (p.Asp724Val) rs1926616572
NM_001323289.2(CDKL5):c.2180T>C (p.Phe727Ser)
NM_001323289.2(CDKL5):c.2195T>A (p.Val732Glu) rs1926617510
NM_001323289.2(CDKL5):c.2213_2215del (p.Ser738del) rs1926618813
NM_001323289.2(CDKL5):c.2219C>T (p.Pro740Leu) rs2147167595
NM_001323289.2(CDKL5):c.2236G>A (p.Gly746Arg) rs1926619731
NM_001323289.2(CDKL5):c.2296A>T (p.Ser766Cys)
NM_001323289.2(CDKL5):c.2307_2309dup (p.Gln770dup) rs1555954068
NM_001323289.2(CDKL5):c.2332G>A (p.Gly778Arg)
NM_001323289.2(CDKL5):c.2354A>C (p.Lys785Thr)
NM_001323289.2(CDKL5):c.236T>C (p.Phe79Ser) rs2147139630
NM_001323289.2(CDKL5):c.2371C>G (p.Gln791Glu)
NM_001323289.2(CDKL5):c.2375C>G (p.Thr792Arg)
NM_001323289.2(CDKL5):c.2376+4dup rs34335533
NM_001323289.2(CDKL5):c.2376+9A>G
NM_001323289.2(CDKL5):c.2384A>C (p.Asn795Thr) rs863225067
NM_001323289.2(CDKL5):c.2387C>G (p.Ser796Cys)
NM_001323289.2(CDKL5):c.2393G>A (p.Ser798Asn)
NM_001323289.2(CDKL5):c.239G>A (p.Arg80His) rs776025230
NM_001323289.2(CDKL5):c.241C>G (p.Arg81Gly) rs1925266779
NM_001323289.2(CDKL5):c.2422A>G (p.Ile808Val)
NM_001323289.2(CDKL5):c.2437A>G (p.Thr813Ala) rs1927002061
NM_001323289.2(CDKL5):c.2479T>C (p.Ser827Pro)
NM_001323289.2(CDKL5):c.248G>T (p.Gly83Val) rs587783402
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter) rs122460158
NM_001323289.2(CDKL5):c.2530C>A (p.His844Asn)
NM_001323289.2(CDKL5):c.2545T>G (p.Ser849Ala)
NM_001323289.2(CDKL5):c.2548A>G (p.Asn850Asp)
NM_001323289.2(CDKL5):c.2551C>A (p.His851Asn)
NM_001323289.2(CDKL5):c.2555C>G (p.Pro852Arg) rs587783156
NM_001323289.2(CDKL5):c.2611T>G (p.Phe871Val) rs2147178975
NM_001323289.2(CDKL5):c.2668C>T (p.Arg890Trp)
NM_001323289.2(CDKL5):c.2680G>C (p.Ala894Pro) rs763110247
NM_001323289.2(CDKL5):c.2680G>T (p.Ala894Ser)
NM_001323289.2(CDKL5):c.2683C>A (p.Pro895Thr)
NM_001323289.2(CDKL5):c.2695C>G (p.Pro899Ala)
NM_001323289.2(CDKL5):c.26T>C (p.Val9Ala) rs1569197962
NM_001323289.2(CDKL5):c.2704C>A (p.Gln902Lys)
NM_001323289.2(CDKL5):c.2706G>C (p.Gln902His)
NM_001323289.2(CDKL5):c.2711C>T (p.Pro904Leu)
NM_001323289.2(CDKL5):c.2713G>A (p.Gly905Ser)
NM_001323289.2(CDKL5):c.274G>C (p.Val92Leu) rs2147139679
NM_001323289.2(CDKL5):c.282+3A>G
NM_001323289.2(CDKL5):c.282+5G>A rs1925269123
NM_001323289.2(CDKL5):c.282+5G>C
NM_001323289.2(CDKL5):c.283-8A>G
NM_001323289.2(CDKL5):c.2883A>T (p.Ter961Tyr)
NM_001323289.2(CDKL5):c.317G>A (p.Gly106Glu)
NM_001323289.2(CDKL5):c.362A>G (p.Lys121Arg) rs2147142685
NM_001323289.2(CDKL5):c.376T>G (p.Cys126Gly)
NM_001323289.2(CDKL5):c.377G>C (p.Cys126Ser) rs1925423604
NM_001323289.2(CDKL5):c.37T>A (p.Phe13Ile) rs2147092100
NM_001323289.2(CDKL5):c.388_390del (p.Asp130del)
NM_001323289.2(CDKL5):c.398A>C (p.His133Pro) rs1925424843
NM_001323289.2(CDKL5):c.404A>T (p.Asp135Val) rs1569214316
NM_001323289.2(CDKL5):c.407T>G (p.Ile136Arg)
NM_001323289.2(CDKL5):c.409A>G (p.Lys137Glu) rs1569214324
NM_001323289.2(CDKL5):c.422T>C (p.Leu141Pro) rs1925493091
NM_001323289.2(CDKL5):c.436A>C (p.Asn146His) rs2147144038
NM_001323289.2(CDKL5):c.436A>G (p.Asn146Asp) rs2147144038
NM_001323289.2(CDKL5):c.440A>T (p.Asp147Val)
NM_001323289.2(CDKL5):c.454T>C (p.Cys152Arg) rs1602272932
NM_001323289.2(CDKL5):c.460T>C (p.Phe154Leu) rs2147144071
NM_001323289.2(CDKL5):c.46C>G (p.Leu16Val)
NM_001323289.2(CDKL5):c.470C>T (p.Ala157Val) rs863225066
NM_001323289.2(CDKL5):c.514G>A (p.Val172Ile) rs797044858
NM_001323289.2(CDKL5):c.574G>A (p.Val192Met) rs998686458
NM_001323289.2(CDKL5):c.601_603del (p.Leu201del) rs2147148016
NM_001323289.2(CDKL5):c.616G>T (p.Asp206Tyr) rs1555950468
NM_001323289.2(CDKL5):c.64+3A>G
NM_001323289.2(CDKL5):c.64+4A>G
NM_001323289.2(CDKL5):c.656A>G (p.Gln219Arg)
NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu) rs1602232972
NM_001323289.2(CDKL5):c.678G>A (p.Val226=)
NM_001323289.2(CDKL5):c.679_691delinsGATCGTGGAA (p.Leu227_Pro231delinsAspArgGlyThr) rs869312851
NM_001323289.2(CDKL5):c.680T>C (p.Leu227Pro) rs267608515
NM_001323289.2(CDKL5):c.719G>T (p.Ser240Ile)
NM_001323289.2(CDKL5):c.71A>G (p.Tyr24Cys) rs1922801133
NM_001323289.2(CDKL5):c.728G>A (p.Arg243His)
NM_001323289.2(CDKL5):c.743G>T (p.Arg248Leu) rs1064795857
NM_001323289.2(CDKL5):c.745-3C>G rs2147153520
NM_001323289.2(CDKL5):c.745-3C>T
NM_001323289.2(CDKL5):c.767A>G (p.Gln256Arg)
NM_001323289.2(CDKL5):c.794T>C (p.Ile265Thr) rs1925958833
NM_001323289.2(CDKL5):c.79G>T (p.Val27Leu)
NM_001323289.2(CDKL5):c.800A>G (p.Asn267Ser) rs794726990
NM_001323289.2(CDKL5):c.803G>A (p.Ser268Asn) rs1925959502
NM_001323289.2(CDKL5):c.818T>C (p.Leu273Pro) rs1569217205
NM_001323289.2(CDKL5):c.825+5G>A rs1555951149
NM_001323289.2(CDKL5):c.827A>G (p.Asn276Ser)
NM_001323289.2(CDKL5):c.844_855del (p.Pro282_Arg285del) rs2147156103
NM_001323289.2(CDKL5):c.856T>A (p.Tyr286Asn) rs2147156130
NM_001323289.2(CDKL5):c.863C>G (p.Thr288Arg)
NM_001323289.2(CDKL5):c.871T>C (p.Cys291Arg) rs1131691376
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr) rs267606714
NM_001323289.2(CDKL5):c.887C>A (p.Thr296Lys)
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr) rs1555940536
NM_001323289.2(CDKL5):c.934A>G (p.Lys312Glu) rs1569218064
NM_001323289.2(CDKL5):c.951T>A (p.His317Gln)
NM_001323289.2(CDKL5):c.969G>A (p.Leu323=) rs587783407
NM_001323289.2(CDKL5):c.99+9A>G rs1602233003
NM_001375505.1(MAP2):c.4281A>C (p.Lys1427Asn)
NM_001690.4(ATP6V1A):c.524C>T (p.Thr175Ile)
NM_003159.3(CDKL5):c.2741_2742del (p.Arg914fs)
NM_003159.3(CDKL5):c.2793del (p.Gln931fs) rs1927760301
NM_003159.3(CDKL5):c.2796del (p.Gly933fs)
NM_003159.3(CDKL5):c.2807_2809del (p.Phe936del)
NM_003159.3(CDKL5):c.2820C>A (p.Asp940Glu) rs587783403
NM_003159.3(CDKL5):c.2849del (p.Pro950fs) rs1927981164
NM_003159.3(CDKL5):c.2921T>C (p.Met974Thr) rs2147197846
NM_003159.3(CDKL5):c.2972A>G (p.Gln991Arg)
NM_003159.3(CDKL5):c.2981G>C (p.Gly994Ala) rs2147201137
NM_004992.3(MECP2):c.(?_-226)_-99+?del
NM_004992.3(MECP2):c.(?_1)_26+?dup
NM_004992.3(MECP2):c.(?_631)_(657_?)dup (p.(?))
NM_004992.3(MECP2):c.1-?dup
NM_004992.3(MECP2):c.1159_1160ins300 (p.?)
NM_004992.3(MECP2):c.1165_1233del69ins21 (p.?)
NM_004992.4(MECP2):c.26+2T>A rs267608409
NM_005249.5(FOXG1):c.1001A>G (p.Tyr334Cys) rs2138661853
NM_005249.5(FOXG1):c.1018C>T (p.Pro340Ser)
NM_005249.5(FOXG1):c.1036A>C (p.Thr346Pro)
NM_005249.5(FOXG1):c.103G>A (p.Ala35Thr) rs767463607
NM_005249.5(FOXG1):c.1083C>T (p.Gly361=)
NM_005249.5(FOXG1):c.1117C>T (p.Pro373Ser) rs2138661973
NM_005249.5(FOXG1):c.1123G>A (p.Ala375Thr) rs1594384127
NM_005249.5(FOXG1):c.1137C>T (p.Leu379=)
NM_005249.5(FOXG1):c.1174C>T (p.Leu392=)
NM_005249.5(FOXG1):c.1181T>G (p.Val394Gly) rs1881820863
NM_005249.5(FOXG1):c.119A>G (p.His40Arg)
NM_005249.5(FOXG1):c.1203C>T (p.Ser401=) rs201024952
NM_005249.5(FOXG1):c.1208A>G (p.Asn403Ser) rs972290676
NM_005249.5(FOXG1):c.1215C>T (p.Cys405=)
NM_005249.5(FOXG1):c.1223A>G (p.Asn408Ser)
NM_005249.5(FOXG1):c.1225C>G (p.Leu409Val)
NM_005249.5(FOXG1):c.1235G>A (p.Gly412Asp)
NM_005249.5(FOXG1):c.1239G>A (p.Gln413=)
NM_005249.5(FOXG1):c.123C>T (p.Asn41=)
NM_005249.5(FOXG1):c.1254C>A (p.Phe418Leu) rs777770149
NM_005249.5(FOXG1):c.1256C>T (p.Pro419Leu) rs1555321437
NM_005249.5(FOXG1):c.1257C>T (p.Pro419=)
NM_005249.5(FOXG1):c.125G>C (p.Ser42Thr) rs565419356
NM_005249.5(FOXG1):c.1288A>G (p.Ser430Gly)
NM_005249.5(FOXG1):c.128A>G (p.His43Arg)
NM_005249.5(FOXG1):c.1297T>A (p.Ser433Thr)
NM_005249.5(FOXG1):c.1314C>G (p.Ala438=)
NM_005249.5(FOXG1):c.1324T>G (p.Ser442Ala)
NM_005249.5(FOXG1):c.1337A>T (p.Gln446Leu)
NM_005249.5(FOXG1):c.134C>A (p.Pro45His) rs780437753
NM_005249.5(FOXG1):c.1351C>T (p.Leu451=)
NM_005249.5(FOXG1):c.1356C>T (p.Pro452=)
NM_005249.5(FOXG1):c.1397G>A (p.Gly466Glu) rs1566446008
NM_005249.5(FOXG1):c.1397G>C (p.Gly466Ala)
NM_005249.5(FOXG1):c.13G>A (p.Gly5Arg)
NM_005249.5(FOXG1):c.1406G>T (p.Gly469Val)
NM_005249.5(FOXG1):c.1414T>A (p.Ser472Thr)
NM_005249.5(FOXG1):c.141CCA[10] (p.His55_His57dup) rs587783630
NM_005249.5(FOXG1):c.1426A>G (p.Thr476Ala)
NM_005249.5(FOXG1):c.142C>T (p.His48Tyr)
NM_005249.5(FOXG1):c.1434A>G (p.Gln478=)
NM_005249.5(FOXG1):c.1439A>C (p.Gln480Pro)
NM_005249.5(FOXG1):c.1458T>G (p.Pro486=)
NM_005249.5(FOXG1):c.149A>G (p.His50Arg) rs1255838501
NM_005249.5(FOXG1):c.158_172del (p.His53_His57del) rs1462202735
NM_005249.5(FOXG1):c.173C>A (p.Pro58Gln)
NM_005249.5(FOXG1):c.176C>T (p.Pro59Leu) rs772898039
NM_005249.5(FOXG1):c.188C>A (p.Pro63Gln)
NM_005249.5(FOXG1):c.194_214del (p.Pro65_Gln71del)
NM_005249.5(FOXG1):c.197C>T (p.Pro66Leu)
NM_005249.5(FOXG1):c.1A>T (p.Met1Leu) rs1168923100
NM_005249.5(FOXG1):c.204G>T (p.Pro68=)
NM_005249.5(FOXG1):c.209_235del (p.Gln70_Pro78del) rs587783634
NM_005249.5(FOXG1):c.219G>A (p.Gln73=)
NM_005249.5(FOXG1):c.219G>T (p.Gln73His) rs1881784155
NM_005249.5(FOXG1):c.221C>G (p.Pro74Arg)
NM_005249.5(FOXG1):c.224C>G (p.Pro75Arg)
NM_005249.5(FOXG1):c.224C>T (p.Pro75Leu) rs1881784707
NM_005249.5(FOXG1):c.230C>T (p.Pro77Leu)
NM_005249.5(FOXG1):c.235C>G (p.Pro79Ala) rs1054291031
NM_005249.5(FOXG1):c.237_239del (p.Pro80del)
NM_005249.5(FOXG1):c.239C>T (p.Pro80Leu)
NM_005249.5(FOXG1):c.24_26del (p.Glu9del)
NM_005249.5(FOXG1):c.254C>G (p.Pro85Arg) rs1822450268
NM_005249.5(FOXG1):c.259A>C (p.Thr87Pro) rs1566445056
NM_005249.5(FOXG1):c.268G>A (p.Ala90Thr) rs906816341
NM_005249.5(FOXG1):c.269C>T (p.Ala90Val) rs1594383160
NM_005249.5(FOXG1):c.271C>T (p.Pro91Ser)
NM_005249.5(FOXG1):c.277G>A (p.Ala93Thr) rs1443045749
NM_005249.5(FOXG1):c.27G>A (p.Glu9=)
NM_005249.5(FOXG1):c.280G>A (p.Asp94Asn)
NM_005249.5(FOXG1):c.283G>A (p.Asp95Asn)
NM_005249.5(FOXG1):c.287A>C (p.Asp96Ala) rs1384097436
NM_005249.5(FOXG1):c.28G>A (p.Val10Met)
NM_005249.5(FOXG1):c.290A>G (p.Lys97Arg) rs2138660569
NM_005249.5(FOXG1):c.295C>G (p.Pro99Ala) rs2138660575
NM_005249.5(FOXG1):c.310C>T (p.Leu104Phe)
NM_005249.5(FOXG1):c.314_318delinsAGCCGCCGCCA (p.Leu104_Pro105insGlnPro) rs1594383202
NM_005249.5(FOXG1):c.315GCC[4] (p.Pro112dup) rs1319234983
NM_005249.5(FOXG1):c.315GCC[6] (p.Pro112_Ala113insProProPro)
NM_005249.5(FOXG1):c.31A>G (p.Lys11Glu)
NM_005249.5(FOXG1):c.321GCCACC[3] (p.Pro111_Pro112dup) rs796052475
NM_005249.5(FOXG1):c.325C>A (p.Pro109Thr) rs1313908557
NM_005249.5(FOXG1):c.328C>T (p.Pro110Ser)
NM_005249.5(FOXG1):c.328_336del (p.Pro110_Pro112del) rs1231147476
NM_005249.5(FOXG1):c.337G>A (p.Ala113Thr)
NM_005249.5(FOXG1):c.344C>T (p.Ala115Val) rs796052454
NM_005249.5(FOXG1):c.350A>G (p.Asp117Gly)
NM_005249.5(FOXG1):c.352G>A (p.Gly118Arg)
NM_005249.5(FOXG1):c.361G>C (p.Ala121Pro) rs1184220259
NM_005249.5(FOXG1):c.367G>A (p.Gly123Arg) rs758610493
NM_005249.5(FOXG1):c.379_396del (p.Lys127_Gly132del)
NM_005249.5(FOXG1):c.386_397dup (p.Glu129_Gly132dup) rs796052456
NM_005249.5(FOXG1):c.392G>C (p.Gly131Ala)
NM_005249.5(FOXG1):c.392G>T (p.Gly131Val)
NM_005249.5(FOXG1):c.394G>A (p.Gly132Ser) rs1881792848
NM_005249.5(FOXG1):c.397G>C (p.Gly133Arg) rs2138660762
NM_005249.5(FOXG1):c.398G>A (p.Gly133Glu)
NM_005249.5(FOXG1):c.40C>T (p.Pro14Ser)
NM_005249.5(FOXG1):c.412G>A (p.Ala138Thr)
NM_005249.5(FOXG1):c.415C>T (p.Pro139Ser)
NM_005249.5(FOXG1):c.422G>T (p.Gly141Val)
NM_005249.5(FOXG1):c.424C>G (p.Pro142Ala)
NM_005249.5(FOXG1):c.426G>A (p.Pro142=)
NM_005249.5(FOXG1):c.426G>T (p.Pro142=)
NM_005249.5(FOXG1):c.429C>G (p.Asp143Glu) rs755388144
NM_005249.5(FOXG1):c.430G>A (p.Glu144Lys) rs797045583
NM_005249.5(FOXG1):c.436_438del (p.Glu146del) rs751048593
NM_005249.5(FOXG1):c.437A>C (p.Glu146Ala)
NM_005249.5(FOXG1):c.440A>G (p.Lys147Arg)
NM_005249.5(FOXG1):c.440A>T (p.Lys147Met) rs1417091060
NM_005249.5(FOXG1):c.443G>T (p.Gly148Val) rs781726187
NM_005249.5(FOXG1):c.444CGCCGG[3] (p.Gly152_Gly153insAlaGly)
NM_005249.5(FOXG1):c.445G>T (p.Ala149Ser) rs1881796126
NM_005249.5(FOXG1):c.451G>C (p.Ala151Pro) rs1881796451
NM_005249.5(FOXG1):c.455G>T (p.Gly152Val) rs796052460
NM_005249.5(FOXG1):c.457G>A (p.Gly153Arg) rs1881797133
NM_005249.5(FOXG1):c.458G>T (p.Gly153Val) rs1555321286
NM_005249.5(FOXG1):c.460GAG[1] (p.Glu155del) rs1175471807
NM_005249.5(FOXG1):c.466AAG[1] (p.Lys157del) rs1424025007
NM_005249.5(FOXG1):c.46T>C (p.Ser16Pro)
NM_005249.5(FOXG1):c.471G>T (p.Lys157Asn)
NM_005249.5(FOXG1):c.480C>T (p.Gly160=)
NM_005249.5(FOXG1):c.486C>T (p.Gly162=)
NM_005249.5(FOXG1):c.496G>A (p.Gly166Arg)
NM_005249.5(FOXG1):c.497G>C (p.Gly166Ala) rs760578111
NM_005249.5(FOXG1):c.498G>A (p.Gly166=)
NM_005249.5(FOXG1):c.501G>T (p.Glu167Asp)
NM_005249.5(FOXG1):c.502G>A (p.Gly168Arg)
NM_005249.5(FOXG1):c.503G>T (p.Gly168Val) rs148157138
NM_005249.5(FOXG1):c.505G>A (p.Gly169Ser) rs530084654
NM_005249.5(FOXG1):c.516C>A (p.Gly172=)
NM_005249.5(FOXG1):c.51G>C (p.Ser17=)
NM_005249.5(FOXG1):c.530G>C (p.Gly177Ala)
NM_005249.5(FOXG1):c.553A>G (p.Ser185Gly) rs879255530
NM_005249.5(FOXG1):c.554G>C (p.Ser185Thr) rs1057516138
NM_005249.5(FOXG1):c.565C>G (p.Leu189Val) rs1555321308
NM_005249.5(FOXG1):c.56G>C (p.Ser19Thr)
NM_005249.5(FOXG1):c.576G>A (p.Met192Ile)
NM_005249.5(FOXG1):c.584G>C (p.Arg195Pro) rs1001642335
NM_005249.5(FOXG1):c.58A>T (p.Ile20Phe)
NM_005249.5(FOXG1):c.597G>A (p.Glu199=)
NM_005249.5(FOXG1):c.603G>T (p.Arg201=)
NM_005249.5(FOXG1):c.606C>T (p.Leu202=)
NM_005249.5(FOXG1):c.616G>T (p.Gly206Cys)
NM_005249.5(FOXG1):c.620T>C (p.Ile207Thr) rs1881803464
NM_005249.5(FOXG1):c.635_640del (p.Met212_Lys213del)
NM_005249.5(FOXG1):c.649T>C (p.Tyr217His)
NM_005249.5(FOXG1):c.655C>G (p.Arg219Gly) rs1555321323
NM_005249.5(FOXG1):c.672C>G (p.Gly224=) rs587783639
NM_005249.5(FOXG1):c.679A>G (p.Asn227Asp) rs1881805333
NM_005249.5(FOXG1):c.680A>T (p.Asn227Ile)
NM_005249.5(FOXG1):c.681C>G (p.Asn227Lys) rs786205012
NM_005249.5(FOXG1):c.681C>T (p.Asn227=)
NM_005249.5(FOXG1):c.694A>T (p.Asn232Tyr) rs786205486
NM_005249.5(FOXG1):c.699G>T (p.Leu233=) rs2138661396
NM_005249.5(FOXG1):c.6_7insAACGAG (p.Leu2_Asp3insAsnGlu)
NM_005249.5(FOXG1):c.701C>T (p.Ser234Phe) rs1555321334
NM_005249.5(FOXG1):c.706A>G (p.Asn236Asp)
NM_005249.5(FOXG1):c.707A>T (p.Asn236Ile)
NM_005249.5(FOXG1):c.748G>A (p.Gly250Ser)
NM_005249.5(FOXG1):c.772G>T (p.Asp258Tyr) rs2138661505
NM_005249.5(FOXG1):c.791T>C (p.Val264Ala) rs1881808715
NM_005249.5(FOXG1):c.799GGC[1] (p.Gly268del)
NM_005249.5(FOXG1):c.804C>T (p.Gly268=)
NM_005249.5(FOXG1):c.816G>A (p.Lys272=)
NM_005249.5(FOXG1):c.817C>T (p.Leu273=)
NM_005249.5(FOXG1):c.824G>C (p.Arg275Pro) rs1555321361
NM_005249.5(FOXG1):c.826C>T (p.Arg276Cys) rs2138661609
NM_005249.5(FOXG1):c.850C>G (p.Leu284Val)
NM_005249.5(FOXG1):c.85C>G (p.Gln29Glu)
NM_005249.5(FOXG1):c.864C>A (p.Arg288=)
NM_005249.5(FOXG1):c.869C>T (p.Ala290Val)
NM_005249.5(FOXG1):c.876C>G (p.Leu292=)
NM_005249.5(FOXG1):c.893C>G (p.Thr298Ser) rs2138661708
NM_005249.5(FOXG1):c.907G>T (p.Ala303Ser)
NM_005249.5(FOXG1):c.916C>T (p.Leu306Phe)
NM_005249.5(FOXG1):c.936C>T (p.Pro312=) rs1555321376
NM_005249.5(FOXG1):c.953A>T (p.His318Leu) rs2138661790
NM_005249.5(FOXG1):c.970A>G (p.Thr324Ala) rs1881813785
NM_005249.5(FOXG1):c.974_975insA (p.Ser326fs)
NM_005249.5(FOXG1):c.977G>C (p.Ser326Thr)
NM_005249.5(FOXG1):c.998C>T (p.Ala333Val) rs1322496307
NM_022474.4(PALS1):c.94C>T (p.His32Tyr) rs2140676311

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