ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by RettBASE

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 622
Download table as spreadsheet
HGVS dbSNP
NC_000023.11:g.154016489_154067020delinsTTTCCGACAAAGGT
NM_001110792.1(MECP2):c.(?_1)_(62_?)del (p.(?))
NM_001110792.1(MECP2):c.1025_10320delAGAAGAinsGCATCTTCTCCTCTTT (p.?) rs61751456
NM_001110792.1(MECP2):c.414_1497del1084 (p.Pro139Phefs)
NM_001110792.1(MECP2):c.62+2_62+3delTG rs786205049
NM_001110792.2(MECP2):c.18_22CGCCG[3] (p.Ser10fs) rs786205038
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.30delinsGA (p.Ser10fs) rs786205040
NM_001110792.2(MECP2):c.33_35AGG[7] (p.Gly15_Gly16dup) rs587783744
NM_001110792.2(MECP2):c.47_57del (p.Gly16fs) rs786205042
NM_001110792.2(MECP2):c.48C>T (p.Gly16=) rs786205045
NM_001110792.2(MECP2):c.48_55del (p.Glu18fs) rs786205043
NM_001110792.2(MECP2):c.48_55dup (p.Glu19fs) rs786205043
NM_001110792.2(MECP2):c.49G>A (p.Glu17Lys) rs786205046
NM_001110792.2(MECP2):c.55_56GA[2] (p.Arg20fs) rs786205047
NM_001110792.2(MECP2):c.5C>T (p.Ala2Val) rs179363901
NM_001110792.2(MECP2):c.6_8CGC[4] (p.Ala7_Ala8del) rs398123566
NM_001110792.2(MECP2):c.6_8CGC[9] (p.Ala6_Ala8dup) rs398123566
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val) rs122460159
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter) rs62653623
NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr) rs62641235
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter) rs122460158
NM_001323289.2(CDKL5):c.2593C>T (p.Gln865Ter) rs267608663
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg) rs267608468
NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe) rs122460157
NM_001323289.2(CDKL5):c.513C>A (p.Tyr171Ter) rs267608490
NM_001323289.2(CDKL5):c.525A>T (p.Arg175Ser) rs61749700
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln) rs267606715
NM_001323289.2(CDKL5):c.533G>C (p.Arg178Pro) rs267606715
NM_001323289.2(CDKL5):c.578A>G (p.Asp193Gly) rs267608500
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly) rs587783406
NM_001323289.2(CDKL5):c.679_691delinsGATCGTGGAA (p.Leu227_Pro231delinsAspArgGlyThr) rs869312851
NM_001323289.2(CDKL5):c.863C>T (p.Thr288Ile) rs267606713
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr) rs267606714
NM_003159.2(CDKL5):c.(?_-253)_(*85_?)del
NM_003159.2(CDKL5):c.(?_-253)_-162-27968del
NM_003159.2(CDKL5):c.-162-2A>G rs786204973
NM_003159.2(CDKL5):c.-162-?_*85del
NM_003159.2(CDKL5):c.-162-?_145+?del
NM_003159.2(CDKL5):c.-162-?_64+?del
NM_003159.2(CDKL5):c.-162-?_99+?del
NM_003159.2(CDKL5):c.-189C>T rs786204994
NM_003159.2(CDKL5):c.-253_-163+?del
NM_003159.2(CDKL5):c.-253_2276+?del
NM_003159.2(CDKL5):c.-253_64+?del
NM_003159.2(CDKL5):c.-253_825+?del
NM_003159.2(CDKL5):c.-253_977+?del
NM_003159.2(CDKL5):c.-253_99+?del
NM_003159.2(CDKL5):c.-440G>T rs777401314
NM_003159.2(CDKL5):c.100-2A>G rs267608423
NM_003159.2(CDKL5):c.100-?_145+?del
NM_003159.2(CDKL5):c.1008_1029del (p.Ser337fs) rs786204964
NM_003159.2(CDKL5):c.1039C>T (p.Gln347Ter) rs267608561
NM_003159.2(CDKL5):c.1079del (p.Leu360fs) rs267608565
NM_003159.2(CDKL5):c.1082dup (p.Ala362fs) rs267608566
NM_003159.2(CDKL5):c.1090G>T (p.Glu364Ter) rs786204966
NM_003159.2(CDKL5):c.1196A>C (p.Asn399Thr) rs267608611
NM_003159.2(CDKL5):c.1238C>G (p.Ser413Ter) rs267608618
NM_003159.2(CDKL5):c.1266C>A (p.Asp422Glu) rs762708691
NM_003159.2(CDKL5):c.1311dup (p.Ser438fs) rs267608623
NM_003159.2(CDKL5):c.1341del (p.Phe447fs) rs786204968
NM_003159.2(CDKL5):c.1375C>T (p.Gln459Ter) rs786204969
NM_003159.2(CDKL5):c.1400A>C (p.His467Pro) rs267608631
NM_003159.2(CDKL5):c.1417dup (p.Ile473fs) rs786204970
NM_003159.2(CDKL5):c.145+2T>C rs267608430
NM_003159.2(CDKL5):c.146-?_*85del
NM_003159.2(CDKL5):c.1550del (p.Phe517fs) rs786204972
NM_003159.2(CDKL5):c.163_166del (p.Glu55fs) rs267608433
NM_003159.2(CDKL5):c.1648C>T (p.Arg550Ter) rs267608643
NM_003159.2(CDKL5):c.1708G>T (p.Glu570Ter) rs267608644
NM_003159.2(CDKL5):c.1784dup (p.Leu596fs) rs786204974
NM_003159.2(CDKL5):c.183del (p.Met63fs) rs62643608
NM_003159.2(CDKL5):c.1854del (p.Asp618fs) rs786204975
NM_003159.2(CDKL5):c.1892_1893dup (p.Gly632Ter) rs267608646
NM_003159.2(CDKL5):c.191T>C (p.Leu64Pro) rs267608435
NM_003159.2(CDKL5):c.199C>T (p.Leu67Phe) rs267608437
NM_003159.2(CDKL5):c.2016del (p.Ser673fs) rs267608648
NM_003159.2(CDKL5):c.2016dup (p.Ser673fs) rs267608648
NM_003159.2(CDKL5):c.2045_2046delAGins18 (p.?)
NM_003159.2(CDKL5):c.2046+1G>A rs786204976
NM_003159.2(CDKL5):c.2047-1G>A rs267608650
NM_003159.2(CDKL5):c.2066del (p.Pro689fs) rs267608651
NM_003159.2(CDKL5):c.207_213del (p.Glu70fs) rs786204977
NM_003159.2(CDKL5):c.2103_2104AC[1] (p.His702fs) rs786204978
NM_003159.2(CDKL5):c.211A>G (p.Asn71Asp) rs587783072
NM_003159.2(CDKL5):c.2152G>A (p.Val718Met) rs267608653
NM_003159.2(CDKL5):c.215T>A (p.Ile72Asn) rs62641235
NM_003159.2(CDKL5):c.225_228GAAG[1] (p.Glu77fs) rs267608441
NM_003159.2(CDKL5):c.2277-2A>G rs786204979
NM_003159.2(CDKL5):c.2323_2324GA[1] (p.Lys776fs) rs267608654
NM_003159.2(CDKL5):c.2343del (p.Arg781fs) rs62643614
NM_003159.2(CDKL5):c.2363_2367del (p.Lys788fs) rs267608655
NM_003159.2(CDKL5):c.2376+1G>A rs267608656
NM_003159.2(CDKL5):c.2376+1G>C rs267608656
NM_003159.2(CDKL5):c.2376+5G>A rs267608657
NM_003159.2(CDKL5):c.2377-?_*85del
NM_003159.2(CDKL5):c.2413C>T (p.Gln805Ter) rs267608659
NM_003159.2(CDKL5):c.2494C>T (p.Gln832Ter) rs17857094
NM_003159.2(CDKL5):c.2497-?_*85del
NM_003159.2(CDKL5):c.2504del (p.Pro835fs) rs267608660
NM_003159.2(CDKL5):c.2529del (p.Leu843fs) rs267608661
NM_003159.2(CDKL5):c.2704C>T (p.Gln902Ter) rs786204981
NM_003159.2(CDKL5):c.2714-47C>T rs786204995
NM_003159.2(CDKL5):c.275_276insAA (p.Glu93fs) rs786204982
NM_003159.2(CDKL5):c.283-3_290del rs786204983
NM_003159.2(CDKL5):c.2908C>T (p.Arg970Ter) rs267608665
NM_003159.2(CDKL5):c.352C>T (p.Gln118Ter) rs267608453
NM_003159.2(CDKL5):c.39del (p.Phe13fs) rs267608415
NM_003159.2(CDKL5):c.400C>T (p.Arg134Ter) rs267608472
NM_003159.2(CDKL5):c.403+1G>A rs786204984
NM_003159.2(CDKL5):c.403+540_554+61del
NM_003159.2(CDKL5):c.404-1G>A rs267608474
NM_003159.2(CDKL5):c.404-1G>T rs267608474
NM_003159.2(CDKL5):c.404-?_554+?del
NM_003159.2(CDKL5):c.425T>A (p.Leu142Ter) rs267608477
NM_003159.2(CDKL5):c.458A>G (p.Asp153Gly) rs786204985
NM_003159.2(CDKL5):c.463+1G>A rs267608479
NM_003159.2(CDKL5):c.464-1G>A rs786204986
NM_003159.2(CDKL5):c.464-2A>G rs267608480
NM_003159.2(CDKL5):c.473G>C (p.Arg158Pro) rs757402424
NM_003159.2(CDKL5):c.504_505CA[1] (p.Thr169fs) rs786204987
NM_003159.2(CDKL5):c.510_511dup (p.Tyr171fs) rs786204988
NM_003159.2(CDKL5):c.526T>G (p.Trp176Gly) rs587783084
NM_003159.2(CDKL5):c.528G>T (p.Trp176Cys) rs786204989
NM_003159.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_003159.2(CDKL5):c.539C>T (p.Pro180Leu) rs61749704
NM_003159.2(CDKL5):c.58G>C (p.Gly20Arg) rs267608418
NM_003159.2(CDKL5):c.607G>T (p.Glu203Ter) rs267608505
NM_003159.2(CDKL5):c.64+2del rs267608419
NM_003159.2(CDKL5):c.65-?_99+?del
NM_003159.2(CDKL5):c.656A>C (p.Gln219Pro) rs786204963
NM_003159.2(CDKL5):c.659T>C (p.Leu220Pro) rs267608511
NM_003159.2(CDKL5):c.660_664dup (p.Thr222fs) rs786204990
NM_003159.2(CDKL5):c.680T>G (p.Leu227Arg) rs267608515
NM_003159.2(CDKL5):c.745-?_825+?del
NM_003159.2(CDKL5):c.801_802del (p.Asn267fs) rs267608528
NM_003159.2(CDKL5):c.838_847del (p.Asp281fs) rs61750250
NM_003159.2(CDKL5):c.867dup (p.Gln290fs) rs267608537
NM_003159.2(CDKL5):c.884del (p.Pro295fs) rs267608542
NM_003159.2(CDKL5):c.904C>T (p.Leu302Phe) rs267608547
NM_003159.2(CDKL5):c.91A>G (p.Arg31Gly) rs786204991
NM_003159.2(CDKL5):c.942del (p.Lys314fs) rs786204992
NM_003159.2(CDKL5):c.964dup (p.Thr322fs) rs267608552
NM_003159.2(CDKL5):c.978-2A>G rs267608553
NM_003159.2(CDKL5):c.99+1G>T rs267608421
NM_003159.2(CDKL5):c.99+5G>A rs587783131
NM_004992.3(MECP2):c.(?_-1)_(26_?)del
NM_004992.3(MECP2):c.(?_-226)_(*1_?)del
NM_004992.3(MECP2):c.(?_-226)_-99+?del
NM_004992.3(MECP2):c.(?_-226)_26+?del
NM_004992.3(MECP2):c.(?_1)_26+?dup
NM_004992.3(MECP2):c.(?_1017)_(1397_?)del (p.(?))
NM_004992.3(MECP2):c.(?_1044)_(1442_?)del (p.(?))
NM_004992.3(MECP2):c.(?_1169)_(1170_?)del (p.(?))
NM_004992.3(MECP2):c.(?_1169)_(1397_?)del (p.(?))
NM_004992.3(MECP2):c.(?_1169)_*(1_?)del
NM_004992.3(MECP2):c.(?_1336)_*(1_?)del
NM_004992.3(MECP2):c.(?_1367)_(1431_?)del (p.(?))
NM_004992.3(MECP2):c.(?_248)_(320_?)del (p.(?))
NM_004992.3(MECP2):c.(?_27)_(367_?)del (p.(?))
NM_004992.3(MECP2):c.(?_378)_(1170_?)del (p.(?))
NM_004992.3(MECP2):c.(?_378)_(1185_?)del (p.(?))
NM_004992.3(MECP2):c.(?_378)_(1337_?)del (p.(?))
NM_004992.3(MECP2):c.(?_378)_*(1_?)del
NM_004992.3(MECP2):c.(?_631)_(657_?)del (p.(?))
NM_004992.3(MECP2):c.(?_631)_(657_?)dup (p.(?))
NM_004992.3(MECP2):c.*122del rs267608342
NM_004992.3(MECP2):c.*14G>A rs199963992
NM_004992.3(MECP2):c.*92C>G rs62621672
NM_004992.3(MECP2):c.-15C>T rs267608324
NM_004992.3(MECP2):c.-187_-186delAG rs587783128
NM_004992.3(MECP2):c.-187_-186delinsTT rs786205039
NM_004992.3(MECP2):c.-214_-213GC[4] rs782107551
NM_004992.3(MECP2):c.-98-?_377+?del
NM_004992.3(MECP2):c.-99+1G>A rs786205048
NM_004992.3(MECP2):c.1-?dup
NM_004992.3(MECP2):c.1009_1027del (p.Lys337fs) rs267608559
NM_004992.3(MECP2):c.100_103del (p.Asp34fs) rs61754428
NM_004992.3(MECP2):c.1012_1193del (p.Thr338fs) rs1557135426
NM_004992.3(MECP2):c.1012_1202del (p.Thr338fs) rs1557135300
NM_004992.3(MECP2):c.1015T>C (p.Cys339Arg) rs267608560
NM_004992.3(MECP2):c.1028_1158del (p.Gly343fs) rs1557135728
NM_004992.3(MECP2):c.1030C>G (p.Arg344Gly) rs61752361
NM_004992.3(MECP2):c.1030C>T (p.Arg344Trp) rs61752361
NM_004992.3(MECP2):c.1030_1195delinsGT (p.Arg344fs) rs1557135402
NM_004992.3(MECP2):c.1038C>G (p.Ser346Arg) rs61752365
NM_004992.3(MECP2):c.1039_1195delinsGT (p.Lys347fs) rs1557135400
NM_004992.3(MECP2):c.1043_1173delinsTG (p.Glu348_Pro391delinsVal) rs1557135603
NM_004992.3(MECP2):c.1046_1206del (p.Ser349fs) rs1557135268
NM_004992.3(MECP2):c.1048_1095del (p.Ser350_Glu365del) rs267608562
NM_004992.3(MECP2):c.1048_1199del (p.Ser350fs) rs1557135350
NM_004992.3(MECP2):c.104_107AGAA[1] (p.Glu37fs) rs267608426
NM_004992.3(MECP2):c.1052_1200del (p.Pro351fs) rs1557135338
NM_004992.3(MECP2):c.1057_1219del (p.Gly353fs) rs1557135225
NM_004992.3(MECP2):c.1061_1156del (p.Arg354_Pro385del) rs1557135746
NM_004992.3(MECP2):c.1063_1065AGC[2] (p.Ser357del) rs267608564
NM_004992.3(MECP2):c.1065C>A (p.Ser355Arg) rs267608563
NM_004992.3(MECP2):c.1078_*2524del (p.Ser360fs)
NM_004992.3(MECP2):c.1079C>A (p.Ser360Ter) rs61752372
NM_004992.3(MECP2):c.107_108del (p.Lys36fs) rs267608425
NM_004992.3(MECP2):c.107_113del (p.Lys36fs) rs267608424
NM_004992.3(MECP2):c.1087A>T (p.Lys363Ter) rs61752375
NM_004992.3(MECP2):c.1093_1095del (p.Glu365del) rs786205032
NM_004992.3(MECP2):c.1096_1201del (p.His366fs) rs1557135317
NM_004992.3(MECP2):c.1097_*13del (p.His366_Ter487delinsXaa) rs1557134819
NM_004992.3(MECP2):c.1097_1203del (p.His366fs) rs1557135285
NM_004992.3(MECP2):c.1098_1100CCA[2] (p.His372del) rs61752381
NM_004992.3(MECP2):c.1099_1118del (p.His367fs) rs267608567
NM_004992.3(MECP2):c.1101_(1396_?)del (p.His(368_?)Alafs)
NM_004992.3(MECP2):c.1101_1201del (p.His367fs) rs1557135315
NM_004992.3(MECP2):c.1105_1225del (p.His369fs) rs1557135213
NM_004992.3(MECP2):c.1115_1326del (p.His372fs) rs1557135076
NM_004992.3(MECP2):c.1116_1201del (p.His372fs) rs1557135314
NM_004992.3(MECP2):c.1117_1203del (p.Ser373_Ser401del) rs1557135279
NM_004992.3(MECP2):c.1121_1191del (p.Glu374fs) rs1557135447
NM_004992.3(MECP2):c.1123_1191del (p.Ser375_Glu397del) rs1557135441
NM_004992.3(MECP2):c.1123_1202del (p.Ser375fs) rs1557135299
NM_004992.3(MECP2):c.1127_1137del (p.Pro376fs) rs267608340
NM_004992.3(MECP2):c.1127_1179del (p.Pro376fs) rs1557135575
NM_004992.3(MECP2):c.1129_*568delinsCCGTGG (p.Lys377fs) rs1557134378
NM_004992.3(MECP2):c.1132_1202del (p.Ala378fs) rs1557135295
NM_004992.3(MECP2):c.1133C>G (p.Ala378Gly) rs201314910
NM_004992.3(MECP2):c.1135_1142del (p.Pro379fs) rs267608571
NM_004992.3(MECP2):c.1138G>A (p.Val380Met) rs267608572
NM_004992.3(MECP2):c.1142_1227del (p.Pro381fs) rs1557135212
NM_004992.3(MECP2):c.1145_1194del (p.Leu382fs) rs267608573
NM_004992.3(MECP2):c.1150_1192del (p.Pro384fs) rs63749023
NM_004992.3(MECP2):c.1151C>T (p.Pro384Leu) rs193922676
NM_004992.3(MECP2):c.1151_1183del (p.Pro384_Ser395delinsArg) rs267608575
NM_004992.3(MECP2):c.1151_1188del (p.Pro384fs) rs267608574
NM_004992.3(MECP2):c.1151_1191del (p.Pro384fs) rs63749024
NM_004992.3(MECP2):c.1152_*29del (p.Pro384_Ter487delinsXaa) rs1557134779
NM_004992.3(MECP2):c.1152_1155del (p.Pro385fs) rs267608576
NM_004992.3(MECP2):c.1152_1195del (p.Pro385fs) rs267608372
NM_004992.3(MECP2):c.1153_1188del (p.Pro385_Ser396del) rs786205033
NM_004992.3(MECP2):c.1153_1190del (p.Pro385fs) rs267608577
NM_004992.3(MECP2):c.1154_1185del (p.Pro385fs) rs267608578
NM_004992.3(MECP2):c.1154_1197del (p.Pro385fs) rs267608579
NM_004992.3(MECP2):c.1155_1166del (p.Leu386_Pro389del) rs782174572
NM_004992.3(MECP2):c.1155_1183del (p.Pro387fs) rs267608580
NM_004992.3(MECP2):c.1155_1200del (p.Leu386fs) rs267608329
NM_004992.3(MECP2):c.1156_1157dup (p.Pro387fs) rs267608584
NM_004992.3(MECP2):c.1156_1172del (p.Pro385_Leu386insTer) rs267608582
NM_004992.3(MECP2):c.1156_1197del (p.Leu386_Pro399del) rs267608579
NM_004992.3(MECP2):c.1156_1200del (p.Leu386_Thr400del) rs267608581
NM_004992.3(MECP2):c.1157_*944del (p.Leu386fs)
NM_004992.3(MECP2):c.1157_1187del (p.Leu386fs) rs61754419
NM_004992.3(MECP2):c.1157_1188del (p.Leu386fs) rs267608585
NM_004992.3(MECP2):c.1157_1197del (p.Leu386fs) rs267608327
NM_004992.3(MECP2):c.1157_1199del (p.Leu386fs) rs267608587
NM_004992.3(MECP2):c.1157_1200del (p.Leu386fs) rs63749748
NM_004992.3(MECP2):c.1158_1167del (p.Pro387fs) rs63583161
NM_004992.3(MECP2):c.1158_1186del (p.Pro387fs) rs63749029
NM_004992.3(MECP2):c.1158_1186delinsCCA (p.Pro387fs) rs386134271
NM_004992.3(MECP2):c.1158_1198del (p.Pro387fs) rs267608588
NM_004992.3(MECP2):c.1158_1200del (p.Pro387fs) rs63009262
NM_004992.3(MECP2):c.1159_1160delinsT (p.Pro387fs) rs267608590
NM_004992.3(MECP2):c.1159_1160ins300 (p.?)
NM_004992.3(MECP2):c.1159_1201del (p.Pro387fs) rs63749030
NM_004992.3(MECP2):c.1159_1458del (p.Pro387_Ser486del) rs1557134858
NM_004992.3(MECP2):c.1160C>T (p.Pro387Leu) rs63390262
NM_004992.3(MECP2):c.1160_1166del (p.Pro387fs) rs267608332
NM_004992.3(MECP2):c.1160_1180del (p.Pro387_Glu394delinsGln) rs267608594
NM_004992.3(MECP2):c.1160_1185del (p.Pro387fs) rs267608591
NM_004992.3(MECP2):c.1160_1188del (p.Pro387fs) rs267608593
NM_004992.3(MECP2):c.1160_1200del (p.Pro387fs) rs267608592
NM_004992.3(MECP2):c.1160_1200delinsAGGGGTGG (p.Pro387_Thr400delinsGlnGlyTrp) rs267608343
NM_004992.3(MECP2):c.1161_1205delinsA (p.Pro388_Pro389insTer) rs267608596
NM_004992.3(MECP2):c.1161_1400del (p.Pro388_Pro467del) rs1557134946
NM_004992.3(MECP2):c.1162C>T (p.Pro388Ser) rs61753000
NM_004992.3(MECP2):c.1162_1163delinsTA (p.Pro388Ter) rs267608597
NM_004992.3(MECP2):c.1162_1191del (p.Pro388_Glu397del) rs63749034
NM_004992.3(MECP2):c.1163C>T (p.Pro388Leu) rs61753006
NM_004992.3(MECP2):c.1163_*39del (p.Pro388fs) rs1557134770
NM_004992.3(MECP2):c.1163_1179del (p.Pro388fs) rs267608601
NM_004992.3(MECP2):c.1163_1188del (p.Pro388fs) rs267608600
NM_004992.3(MECP2):c.1163_1197del (p.Pro388fs) rs267608589
NM_004992.3(MECP2):c.1163_1216del (p.Pro388_Pro405del) rs1557135234
NM_004992.3(MECP2):c.1164_1172del (p.Pro389_Pro391del) rs267608604
NM_004992.3(MECP2):c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA (p.Pro389_Ser395delinsTer) rs786205019
NM_004992.3(MECP2):c.1164_1194del (p.Pro391fs) rs786205020
NM_004992.3(MECP2):c.1164_1206del (p.Pro389fs) rs267608603
NM_004992.3(MECP2):c.1164_1207del (p.Pro388_Pro389insTer) rs61752992
NM_004992.3(MECP2):c.1164_1208del (p.Pro389_Pro403del) rs267608605
NM_004992.3(MECP2):c.1164del (p.Pro389fs) rs267608606
NM_004992.3(MECP2):c.1165_1190del (p.Pro389fs) rs267608607
NM_004992.3(MECP2):c.1165_1233del69ins21 (p.?)
NM_004992.3(MECP2):c.1167_1200del (p.Pro390fs) rs267608343
NM_004992.3(MECP2):c.117_118AG[1] (p.Glu40fs) rs267608428
NM_004992.3(MECP2):c.117dup (p.Glu40fs) rs267608427
NM_004992.3(MECP2):c.1180_1181insT (p.Glu394fs) rs786205021
NM_004992.3(MECP2):c.1189G>T (p.Glu397Ter) rs56268439
NM_004992.3(MECP2):c.1190dup (p.Asp398fs) rs267608610
NM_004992.3(MECP2):c.1194_1195insT (p.Pro399fs) rs61753011
NM_004992.3(MECP2):c.1196_1266del (p.Pro399fs) rs1557135137
NM_004992.3(MECP2):c.1197dup (p.Thr400fs) rs267608612
NM_004992.3(MECP2):c.1200dup (p.Ser401fs) rs267608613
NM_004992.3(MECP2):c.1202dup (p.Ser401fs) rs267608614
NM_004992.3(MECP2):c.1214C>T (p.Pro405Leu) rs61753016
NM_004992.3(MECP2):c.1216C>T (p.Gln406Ter) rs61753965
NM_004992.3(MECP2):c.1223_1265del (p.Leu408fs) rs63749038
NM_004992.3(MECP2):c.1229G>A (p.Ser410Asn) rs267608616
NM_004992.3(MECP2):c.1233_1243del (p.Ser411fs) rs786205036
NM_004992.3(MECP2):c.1235_1260del (p.Val412fs) rs267608617
NM_004992.3(MECP2):c.1265_1289delinsAGCGGCCG (p.Gly422fs) rs63749064
NM_004992.3(MECP2):c.126dup (p.His43fs) rs61754430
NM_004992.3(MECP2):c.1308_1309del (p.Gln437fs) rs61753972
NM_004992.3(MECP2):c.1315G>A (p.Ala439Thr) rs61753973
NM_004992.3(MECP2):c.1320dup (p.Ala441fs) rs267608624
NM_004992.3(MECP2):c.1327G>A (p.Ala443Thr) rs193922677
NM_004992.3(MECP2):c.1340C>T (p.Ala447Val) rs61753978
NM_004992.3(MECP2):c.1357C>T (p.Arg453Ter) rs61753979
NM_004992.3(MECP2):c.1358G>A (p.Arg453Gln) rs61753980
NM_004992.3(MECP2):c.1363G>T (p.Glu455Ter) rs104894864
NM_004992.3(MECP2):c.1364_1365insC (p.Glu455fs) rs267608627
NM_004992.3(MECP2):c.1403_1408del (p.Arg468_Pro469del) rs267608632
NM_004992.3(MECP2):c.1408_1411delinsTG (p.Asn470fs) rs786205023
NM_004992.3(MECP2):c.140dup (p.Pro48fs) rs61754431
NM_004992.3(MECP2):c.1411_1412AG[2] (p.Glu472fs) rs267608634
NM_004992.3(MECP2):c.1441G>A (p.Val481Met) rs193922678
NM_004992.3(MECP2):c.1448_1449AG[1] (p.Arg484fs) rs267608638
NM_004992.3(MECP2):c.1448_1449AG[4] (p.Val485fs) rs267608638
NM_004992.3(MECP2):c.1450_*12del (p.Arg484_Ter487del) rs267608637
NM_004992.3(MECP2):c.1454_1457del (p.Val485fs) rs267608640
NM_004992.3(MECP2):c.1455_1456dup (p.Ser486fs) rs267608641
NM_004992.3(MECP2):c.1461A>C (p.Ter487Cys) rs267608642
NM_004992.3(MECP2):c.146C>A (p.Ser49Ter) rs61754432
NM_004992.3(MECP2):c.187_188GA[1] (p.Glu63fs) rs61754436
NM_004992.3(MECP2):c.201del (p.Ser68fs) rs61754438
NM_004992.3(MECP2):c.203C>G (p.Ser68Ter) rs267608438
NM_004992.3(MECP2):c.215_216insT (p.Ala73fs) rs1557137871
NM_004992.3(MECP2):c.215dup (p.Ala73fs) rs61754441
NM_004992.3(MECP2):c.233del (p.Ser78fs) rs267608442
NM_004992.3(MECP2):c.243dup (p.Lys82fs) rs267608443
NM_004992.3(MECP2):c.257C>G (p.Ser86Cys) rs61754445
NM_004992.3(MECP2):c.258_259del (p.Ile87fs) rs267608444
NM_004992.3(MECP2):c.26+2T>A rs267608409
NM_004992.3(MECP2):c.27-12521_*5072del
NM_004992.3(MECP2):c.27-2A>G rs267608412
NM_004992.3(MECP2):c.27-3928_1184del
NM_004992.3(MECP2):c.27-4722_*112delinsCACTTTGTG
NM_004992.3(MECP2):c.27-4722_*739delins43
NM_004992.3(MECP2):c.27-5774_902delinsGTGCCCGGACTGATGTCA
NM_004992.3(MECP2):c.27-6026_1190delinsGT
NM_004992.3(MECP2):c.27-6215_1190del
NM_004992.3(MECP2):c.27-6C>G rs267608411
NM_004992.3(MECP2):c.27-8C>G rs267608410
NM_004992.3(MECP2):c.27-94_1207del
NM_004992.3(MECP2):c.27-9A>G rs267608413
NM_004992.3(MECP2):c.274G>T (p.Gly92Ter) rs267608445
NM_004992.3(MECP2):c.275dup (p.Pro93fs) rs267608446
NM_004992.3(MECP2):c.277C>T (p.Pro93Ser) rs61754447
NM_004992.3(MECP2):c.289G>T (p.Asp97Tyr) rs61754448
NM_004992.3(MECP2):c.28G>C (p.Glu10Gln) rs61754421
NM_004992.3(MECP2):c.28G>T (p.Glu10Ter) rs61754421
NM_004992.3(MECP2):c.291C>A (p.Asp97Glu) rs61754449
NM_004992.3(MECP2):c.295_297del (p.Thr99del) rs267608449
NM_004992.3(MECP2):c.298C>G (p.Leu100Val) rs28935168
NM_004992.3(MECP2):c.299T>G (p.Leu100Arg) rs61754451
NM_004992.3(MECP2):c.301C>T (p.Pro101Ser) rs61754452
NM_004992.3(MECP2):c.302C>A (p.Pro101His) rs61754453
NM_004992.3(MECP2):c.302C>G (p.Pro101Arg) rs61754453
NM_004992.3(MECP2):c.302C>T (p.Pro101Leu) rs61754453
NM_004992.3(MECP2):c.308G>A (p.Gly103Asp) rs267608450
NM_004992.3(MECP2):c.310T>C (p.Trp104Arg) rs267608451
NM_004992.3(MECP2):c.311G>A (p.Trp104Ter) rs61754455
NM_004992.3(MECP2):c.311_323del (p.Trp104fs) rs63749010
NM_004992.3(MECP2):c.315dup (p.Arg106fs) rs61754456
NM_004992.3(MECP2):c.316C>G (p.Arg106Gly) rs28934907
NM_004992.3(MECP2):c.316C>T (p.Arg106Trp) rs28934907
NM_004992.3(MECP2):c.317G>A (p.Arg106Gln) rs61754457
NM_004992.3(MECP2):c.317G>T (p.Arg106Leu) rs61754457
NM_004992.3(MECP2):c.318_321dup (p.Leu108fs) rs786205025
NM_004992.3(MECP2):c.323T>A (p.Leu108His) rs61754458
NM_004992.3(MECP2):c.326dup (p.Gln110fs) rs267608452
NM_004992.3(MECP2):c.331A>G (p.Arg111Gly) rs61754459
NM_004992.3(MECP2):c.341G>C (p.Gly114Ala) rs61755760
NM_004992.3(MECP2):c.345del (p.Ser116fs) rs61755761
NM_004992.3(MECP2):c.358T>G (p.Tyr120Asp) rs267608454
NM_004992.3(MECP2):c.35_42dup (p.Asp15fs) rs63749008
NM_004992.3(MECP2):c.364G>A (p.Val122Met) rs267608455
NM_004992.3(MECP2):c.372G>C (p.Leu124Phe) rs61755763
NM_004992.3(MECP2):c.372G>T (p.Leu124Phe) rs61755763
NM_004992.3(MECP2):c.375del (p.Asn126fs) rs267608457
NM_004992.3(MECP2):c.377+1G>A rs267608463
NM_004992.3(MECP2):c.377+1G>T rs267608463
NM_004992.3(MECP2):c.377+24C>A rs267608462
NM_004992.3(MECP2):c.377+2T>G rs267608458
NM_004992.3(MECP2):c.378-14G>A rs267608467
NM_004992.3(MECP2):c.378-2A>C rs267608464
NM_004992.3(MECP2):c.378-2A>G rs267608464
NM_004992.3(MECP2):c.378-2A>T rs267608464
NM_004992.3(MECP2):c.378-3C>G rs267608465
NM_004992.3(MECP2):c.378-61C>G rs191076920
NM_004992.3(MECP2):c.380C>T (p.Pro127Leu) rs267608387
NM_004992.3(MECP2):c.382C>T (p.Gln128Ter) rs267608469
NM_004992.3(MECP2):c.382_1189del (p.Gln128fs) rs1557135463
NM_004992.3(MECP2):c.383A>C (p.Gln128Pro) rs61748383
NM_004992.3(MECP2):c.386G>T (p.Gly129Val) rs61748384
NM_004992.3(MECP2):c.392C>A (p.Ala131Asp) rs267608470
NM_004992.3(MECP2):c.397C>G (p.Arg133Gly) rs28934904
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.398G>A (p.Arg133His) rs61748389
NM_004992.3(MECP2):c.398G>T (p.Arg133Leu) rs61748389
NM_004992.3(MECP2):c.400T>C (p.Ser134Pro) rs267608471
NM_004992.3(MECP2):c.401C>G (p.Ser134Cys) rs61748390
NM_004992.3(MECP2):c.401C>T (p.Ser134Phe) rs61748390
NM_004992.3(MECP2):c.403A>G (p.Lys135Glu) rs61748391
NM_004992.3(MECP2):c.409_1158del (p.Glu137_Leu386del) rs1557135739
NM_004992.3(MECP2):c.410A>G (p.Glu137Gly) rs61748392
NM_004992.3(MECP2):c.411del (p.Glu137fs) rs61748393
NM_004992.3(MECP2):c.413T>A (p.Leu138Ter) rs267608475
NM_004992.3(MECP2):c.413T>C (p.Leu138Ser) rs267608475
NM_004992.3(MECP2):c.419C>T (p.Ala140Val) rs28934908
NM_004992.3(MECP2):c.420del (p.Tyr141fs) rs267608476
NM_004992.3(MECP2):c.422A>G (p.Tyr141Cys) rs61748395
NM_004992.3(MECP2):c.423C>G (p.Tyr141Ter) rs61748396
NM_004992.3(MECP2):c.428_429insT (p.Glu143fs) rs61748398
NM_004992.3(MECP2):c.430A>T (p.Lys144Ter) rs61748399
NM_004992.3(MECP2):c.431del (p.Lys144fs) rs61748400
NM_004992.3(MECP2):c.439del (p.Asp147fs) rs62952161
NM_004992.3(MECP2):c.451del (p.Asp151fs) rs61748402
NM_004992.3(MECP2):c.452A>G (p.Asp151Gly) rs61748403
NM_004992.3(MECP2):c.454C>G (p.Pro152Ala) rs179363900
NM_004992.3(MECP2):c.455C>G (p.Pro152Arg) rs61748404
NM_004992.3(MECP2):c.463T>A (p.Phe155Ile) rs61748406
NM_004992.3(MECP2):c.464T>C (p.Phe155Ser) rs28934905
NM_004992.3(MECP2):c.464T>G (p.Phe155Cys) rs28934905
NM_004992.3(MECP2):c.467A>C (p.Asp156Ala) rs61748407
NM_004992.3(MECP2):c.467A>G (p.Asp156Gly) rs61748407
NM_004992.3(MECP2):c.468C>G (p.Asp156Glu) rs61748408
NM_004992.3(MECP2):c.469T>A (p.Phe157Ile) rs61748410
NM_004992.3(MECP2):c.470_471del (p.Phe157fs) rs267608483
NM_004992.3(MECP2):c.470dup (p.Thr158fs) rs267608482
NM_004992.3(MECP2):c.471C>G (p.Phe157Leu) rs267608484
NM_004992.3(MECP2):c.472A>G (p.Thr158Ala) rs61748411
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.475del (p.Thr158_Val159insTer) rs267608485
NM_004992.3(MECP2):c.480_481del (p.Gly161fs) rs267608486
NM_004992.3(MECP2):c.480del (p.Arg162fs) rs61748415
NM_004992.3(MECP2):c.481G>T (p.Gly161Trp) rs61748416
NM_004992.3(MECP2):c.481_987del507ins8
NM_004992.3(MECP2):c.482G>A (p.Gly161Glu) rs61748417
NM_004992.3(MECP2):c.482G>T (p.Gly161Val) rs61748417
NM_004992.3(MECP2):c.483del (p.Arg162fs) rs61748418
NM_004992.3(MECP2):c.484dup (p.Arg162fs) rs267608487
NM_004992.3(MECP2):c.488_1189del (p.Gly163_Ser396del) rs1557135461
NM_004992.3(MECP2):c.488_489del (p.Gly163fs) rs267608488
NM_004992.3(MECP2):c.499C>T (p.Arg167Trp) rs61748420
NM_004992.3(MECP2):c.502C>A (p.Arg168=) rs61748421
NM_004992.3(MECP2):c.502C>T (p.Arg168Ter) rs61748421
NM_004992.3(MECP2):c.508C>T (p.Gln170Ter) rs61748425
NM_004992.3(MECP2):c.50dup (p.Asp17fs) rs267608416
NM_004992.3(MECP2):c.514C>T (p.Pro172Ser) rs61748426
NM_004992.3(MECP2):c.517C>G (p.Pro173Ala) rs61748427
NM_004992.3(MECP2):c.531del (p.Lys177fs) rs61749703
NM_004992.3(MECP2):c.538A>T (p.Lys180Ter) rs267608495
NM_004992.3(MECP2):c.543_544del (p.Pro182fs) rs267608496
NM_004992.3(MECP2):c.554del (p.Gly185fs) rs61749707
NM_004992.3(MECP2):c.55C>T (p.Gln19Ter) rs61754425
NM_004992.3(MECP2):c.566del (p.Gly189fs) rs61749708
NM_004992.3(MECP2):c.566dup (p.Arg190fs) rs61749708
NM_004992.3(MECP2):c.567dup (p.Arg190fs) rs61749709
NM_004992.3(MECP2):c.574A>T (p.Lys192Ter) rs193922679
NM_004992.3(MECP2):c.592A>T (p.Arg198Ter) rs61749717
NM_004992.3(MECP2):c.598A>T (p.Lys200Ter) rs61749718
NM_004992.3(MECP2):c.601dup (p.Ala201fs) rs267608503
NM_004992.3(MECP2):c.608_609insA (p.Ser204fs) rs267608506
NM_004992.3(MECP2):c.611C>G (p.Ser204Ter) rs61749724
NM_004992.3(MECP2):c.611_612delinsAG (p.Ser204Ter) rs267608507
NM_004992.3(MECP2):c.613G>T (p.Glu205Ter) rs61749726
NM_004992.3(MECP2):c.616_1122del (p.Gly206_Glu374del) rs1557135847
NM_004992.3(MECP2):c.617del (p.Gly206fs) rs61749727
NM_004992.3(MECP2):c.620dup (p.Gln208fs) rs61749728
NM_004992.3(MECP2):c.622C>T (p.Gln208Ter) rs61749729
NM_004992.3(MECP2):c.629A>T (p.Lys210Ile) rs61749730
NM_004992.3(MECP2):c.635_655del (p.Val212_Lys219delinsGlu) rs267608509
NM_004992.3(MECP2):c.64A>T (p.Lys22Ter) rs62641234
NM_004992.3(MECP2):c.651_652del (p.Gly218fs) rs267608510
NM_004992.3(MECP2):c.654_657del (p.Lys219fs) rs61749734
NM_004992.3(MECP2):c.674C>G (p.Pro225Arg) rs61749715
NM_004992.3(MECP2):c.674C>T (p.Pro225Leu) rs61749715
NM_004992.3(MECP2):c.676_677insA (p.Phe226fs) rs267608514
NM_004992.3(MECP2):c.677_678insA (p.Phe226fs) rs61749736
NM_004992.3(MECP2):c.679C>G (p.Gln227Glu) rs61749737
NM_004992.3(MECP2):c.695del (p.Gly232fs) rs63260260
NM_004992.3(MECP2):c.695dup (p.Lys233fs) rs63260260
NM_004992.3(MECP2):c.696del (p.Lys233fs) rs61749741
NM_004992.3(MECP2):c.710del (p.Gly237fs) rs61749743
NM_004992.3(MECP2):c.710dup (p.Gly238fs) rs61749743
NM_004992.3(MECP2):c.711_1269del (p.Gly238fs) rs1557135125
NM_004992.3(MECP2):c.720dup (p.Thr241fs) rs267608518
NM_004992.3(MECP2):c.730C>T (p.Gln244Ter) rs61749747
NM_004992.3(MECP2):c.731_1166del (p.Gln244fs) rs1557135670
NM_004992.3(MECP2):c.734_759del (p.Val245fs) rs267608519
NM_004992.3(MECP2):c.736_737insAT (p.Met246fs) rs61749749
NM_004992.3(MECP2):c.739del (p.Met246_Val247insTer) rs61749750
NM_004992.3(MECP2):c.747_751dup (p.Pro251fs) rs1557136523
NM_004992.3(MECP2):c.748_749insT (p.Arg250fs) rs1557136549
NM_004992.3(MECP2):c.748_753delinsGGCCG (p.Arg250fs) rs61750225
NM_004992.3(MECP2):c.748dup (p.Arg250fs) rs61749752
NM_004992.3(MECP2):c.750delinsTCAGGAAGCTT (p.Pro251fs) rs267608521
NM_004992.3(MECP2):c.752_753dup (p.Gly252fs) rs61749751
NM_004992.3(MECP2):c.753del (p.Gly252fs) rs61749751
NM_004992.3(MECP2):c.753dup (p.Gly252fs) rs61749751
NM_004992.3(MECP2):c.755del (p.Gly252fs) rs61750232
NM_004992.3(MECP2):c.755dup (p.Arg253fs) rs61750232
NM_004992.3(MECP2):c.756_759del (p.Arg253fs) rs267608523
NM_004992.3(MECP2):c.756_763dup (p.Arg255fs) rs61750235
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.766A>T (p.Lys256Ter) rs786205027
NM_004992.3(MECP2):c.766_779dup (p.Asp260fs) rs267608524
NM_004992.3(MECP2):c.767_1175del (p.Lys256fs) rs1557135596
NM_004992.3(MECP2):c.76del (p.Leu26fs) rs61754426
NM_004992.3(MECP2):c.784C>T (p.Gln262Ter) rs267608525
NM_004992.3(MECP2):c.785_818del (p.Gln262fs) rs786205028
NM_004992.3(MECP2):c.792_793del (p.Pro265fs) rs267608526
NM_004992.3(MECP2):c.799A>T (p.Lys267Ter) rs61750238
NM_004992.3(MECP2):c.806del (p.Gly269fs) rs61750241
NM_004992.3(MECP2):c.808del (p.Arg270fs) rs62931162
NM_004992.3(MECP2):c.810_813del (p.Lys271fs) rs267608529
NM_004992.3(MECP2):c.812_818del (p.Lys271fs) rs61750242
NM_004992.3(MECP2):c.816_832del (p.Gly273fs) rs63749012
NM_004992.3(MECP2):c.820_1153del334ins67 (p.?)
NM_004992.3(MECP2):c.822_1184del (p.Val275_Ser395del) rs1557135541
NM_004992.3(MECP2):c.830_831ins23 (p.?)
NM_004992.3(MECP2):c.830del (p.Ala277fs) rs61750247
NM_004992.3(MECP2):c.836C>T (p.Ala279Val) rs61750249
NM_004992.3(MECP2):c.849_1236del (p.Lys284fs) rs1557135197
NM_004992.3(MECP2):c.850A>G (p.Lys284Glu) rs61750255
NM_004992.3(MECP2):c.851_1188del (p.Lys284fs) rs1557135499
NM_004992.3(MECP2):c.852_855AAAG[1] (p.Lys286fs) rs61750256
NM_004992.3(MECP2):c.855_859delinsAAAAAAAAGACT (p.Ala287fs) rs786205030
NM_004992.3(MECP2):c.859G>C (p.Ala287Pro) rs61750257
NM_004992.3(MECP2):c.865A>T (p.Lys289Ter) rs61750259
NM_004992.3(MECP2):c.865_866del (p.Lys289fs) rs267608536
NM_004992.3(MECP2):c.867_1223delinsA (p.Ser291fs) rs1557135218
NM_004992.3(MECP2):c.869_880delinsCACA (p.Glu290fs) rs786205031
NM_004992.3(MECP2):c.869dup (p.Ser291fs) rs267608538
NM_004992.3(MECP2):c.871T>G (p.Ser291Ala) rs61751360
NM_004992.3(MECP2):c.871_1044del (p.Ile293_Ser350del) rs1557136013
NM_004992.3(MECP2):c.874_875insA (p.Ser292fs) rs61751361
NM_004992.3(MECP2):c.880_884del (p.Arg294fs) rs61751364
NM_004992.3(MECP2):c.881_902del (p.Arg294fs) rs267608540
NM_004992.3(MECP2):c.883del (p.Ser295fs) rs267608541
NM_004992.3(MECP2):c.889C>T (p.Gln297Ter) rs61751367
NM_004992.3(MECP2):c.894_1095del (p.Glu298fs) rs1557135907
NM_004992.3(MECP2):c.898G>A (p.Val300Ile) rs61751370
NM_004992.3(MECP2):c.898_1099del (p.Val300fs) rs1557135893
NM_004992.3(MECP2):c.898_901del (p.Val300fs) rs62701461
NM_004992.3(MECP2):c.898_904del (p.Val300fs) rs267608543
NM_004992.3(MECP2):c.898del (p.Val300fs) rs267608544
NM_004992.3(MECP2):c.900_908del (p.Leu301_Ile303del) rs267608545
NM_004992.3(MECP2):c.904C>A (p.Pro302Thr) rs61751373
NM_004992.3(MECP2):c.904C>G (p.Pro302Ala) rs61751373
NM_004992.3(MECP2):c.904C>T (p.Pro302Ser) rs61751373
NM_004992.3(MECP2):c.905C>A (p.Pro302His) rs61749723
NM_004992.3(MECP2):c.905C>G (p.Pro302Arg) rs61749723
NM_004992.3(MECP2):c.905C>T (p.Pro302Leu) rs61749723
NM_004992.3(MECP2):c.906_1138delinsAC (p.Ile303_Val380delinsLeu) rs1557135788
NM_004992.3(MECP2):c.906del (p.Ile303fs) rs267608548
NM_004992.3(MECP2):c.908T>G (p.Ile303Ser) rs267608549
NM_004992.3(MECP2):c.909C>G (p.Ile303Met) rs61751439
NM_004992.3(MECP2):c.910A>G (p.Lys304Glu) rs61751440
NM_004992.3(MECP2):c.913A>G (p.Lys305Glu) rs267608551
NM_004992.3(MECP2):c.914A>G (p.Lys305Arg) rs61751441
NM_004992.3(MECP2):c.914_1172del (p.Lys305fs) rs1557135622
NM_004992.3(MECP2):c.916C>T (p.Arg306Cys) rs28935468
NM_004992.3(MECP2):c.917G>A (p.Arg306His) rs61751443
NM_004992.3(MECP2):c.91del (p.Lys30_Val31insTer) rs61754427
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444
NM_004992.3(MECP2):c.932C>T (p.Thr311Met) rs61751445
NM_004992.3(MECP2):c.953A>C (p.Glu318Ala) rs61751448
NM_004992.3(MECP2):c.962_1267delinsG (p.Lys321fs) rs1557135128
NM_004992.3(MECP2):c.964C>G (p.Pro322Ala) rs61751449
NM_004992.3(MECP2):c.964C>T (p.Pro322Ser) rs61751449
NM_004992.3(MECP2):c.965C>T (p.Pro322Leu) rs61751450
NM_004992.3(MECP2):c.982C>G (p.Leu328Val) rs267608556
NM_004992.3(MECP2):c.994_1346del (p.Ser332fs) rs1557135016
NM_004992.3(MECP2):c.994_998del (p.Ser332fs) rs267608558
NM_004992.3:c.(?_-226)_(*1_?)dup
NM_004992.3:c.(?_184)_(1065_?)del
NM_004992.3:c.(?_27)_(*1_?)del
NM_004992.3:c.(?_27)_(*8554_?)del
NM_004992.3:c.(?_27)_(1018_?)del
NM_004992.3:c.(?_27)_(1021_?)del
NM_004992.3:c.(?_27)_(1029_?)del
NM_004992.3:c.(?_27)_(1170_?)del
NM_004992.3:c.(?_27)_(1185_?)del
NM_004992.3:c.(?_27)_(1337_?)del
NM_004992.3:c.(?_27)_(1397_?)del
NM_004992.3:c.(?_27)_(378_1461)del
NM_004992.3:c.(?_27)_(378_?)del
NM_004992.3:c.343_1182del
NM_005249.5(FOXG1):c.1200C>G (p.Tyr400Ter) rs138747073
NM_005249.5(FOXG1):c.1248C>G (p.Tyr416Ter) rs786204999
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter) rs398124202
NM_005249.5(FOXG1):c.256del (p.Gln86fs) rs786205001
NM_005249.5(FOXG1):c.256dup (p.Gln86fs) rs786205001
NM_005249.5(FOXG1):c.263_278del (p.Arg88fs) rs587783635
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.505_506delinsT (p.Gly169fs) rs786205003
NM_005249.5(FOXG1):c.552dup (p.Ser185fs) rs786205004
NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr) rs786205005
NM_005249.5(FOXG1):c.624C>G (p.Tyr208Ter) rs267606826
NM_005249.5(FOXG1):c.643T>C (p.Phe215Leu) rs267606828
NM_005249.5(FOXG1):c.681C>G (p.Asn227Lys) rs786205012
NM_005249.5(FOXG1):c.689G>A (p.Arg230His) rs786205007
NM_005249.5(FOXG1):c.700T>C (p.Ser234Pro) rs786205008
NM_005249.5(FOXG1):c.730C>T (p.Arg244Cys) rs786205009
NM_005249.5(FOXG1):c.757A>G (p.Asn253Asp) rs587783641
NM_005249.5(FOXG1):c.765G>A (p.Trp255Ter) rs121913678
NM_005249.5(FOXG1):c.788_792del (p.Asp263fs) rs786205010
NM_005249.5(FOXG1):c.924G>A (p.Trp308Ter) rs267606827
NM_005249.5(FOXG1):c.969del (p.Ser323fs) rs786205011
nsv1197494

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.