ClinVar Miner

List of variants in gene MECP2 reported as pathogenic for X-linked disease

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 403
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HGVS dbSNP
MECP2, 1-BP DEL, 76C
MECP2, 1-BP DEL, 806G
MECP2, 11-BP DEL, EX1
MECP2, 240-BP DEL, NT1161
MECP2, 41-BP DEL, NT1159
MECP2, 44-BP DEL, NT1152
MECP2, 52-BP DEL
MECP2, DUP
MECP2, IVS2AS, A-G, -2
NC_000023.10:g.(?_153287264)_(153363188_?)dup
NC_000023.10:g.153296106_153296275delins[NC_000008.10:g.50305003_50392184inv;TTACACAG]
NC_000023.10:g.153296228_153298081del
NM_001110792.1(MECP2):c.(?_1)_(62_?)del (p.(?))
NM_001110792.1(MECP2):c.1025_10320delAGAAGAinsGCATCTTCTCCTCTTT (p.?) rs61751456
NM_001110792.1:c.384_1164del
NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser) rs61751449
NM_001110792.2(MECP2):c.100A>T (p.Lys34Ter) rs62641234
NM_001110792.2(MECP2):c.1030_1034del (p.Ser344fs) rs267608558
NM_001110792.2(MECP2):c.1030_1382del (p.Ser344fs) rs1557135016
NM_001110792.2(MECP2):c.1043_1230del (p.Leu348fs) rs1557135418
NM_001110792.2(MECP2):c.1045_1063del (p.Lys349fs) rs267608559
NM_001110792.2(MECP2):c.1048_1229del (p.Thr350fs) rs1557135426
NM_001110792.2(MECP2):c.1048_1238del (p.Thr350fs) rs1557135300
NM_001110792.2(MECP2):c.1060_1061insAG (p.Pro354fs) rs1060499620
NM_001110792.2(MECP2):c.1064_1194del (p.Gly355fs) rs1557135728
NM_001110792.2(MECP2):c.1065del (p.Arg356fs) rs61751457
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_1231delinsGT (p.Lys359fs) rs1557135400
NM_001110792.2(MECP2):c.1082_1242del (p.Ser361fs) rs1557135268
NM_001110792.2(MECP2):c.1084_1235del (p.Ser362fs) rs1557135350
NM_001110792.2(MECP2):c.1088_1236del (p.Pro363fs) rs1557135338
NM_001110792.2(MECP2):c.1089_*2300del (p.Pro363_Ter499delinsXaa)
NM_001110792.2(MECP2):c.1093_1255del (p.Gly365fs) rs1557135225
NM_001110792.2(MECP2):c.1099_1101AGC[2] (p.Ser369del) rs267608564
NM_001110792.2(MECP2):c.1102_1202del (p.Ser369fs) rs1557135664
NM_001110792.2(MECP2):c.1114_*2524del (p.Ser372fs)
NM_001110792.2(MECP2):c.1115C>A (p.Ser372Ter) rs61752372
NM_001110792.2(MECP2):c.1123A>T (p.Lys375Ter) rs61752375
NM_001110792.2(MECP2):c.1125_1165del (p.Lys376fs) rs1064792898
NM_001110792.2(MECP2):c.112del (p.Leu38fs) rs61754426
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.1133_1239del (p.His378fs) rs1557135285
NM_001110792.2(MECP2):c.1135_1154del (p.His379fs) rs267608567
NM_001110792.2(MECP2):c.1137_1237del (p.His379fs) rs1557135315
NM_001110792.2(MECP2):c.1141_1261del (p.His381fs) rs1557135213
NM_001110792.2(MECP2):c.1147dup (p.His383fs) rs1057519404
NM_001110792.2(MECP2):c.1151_1362del (p.His384fs) rs1557135076
NM_001110792.2(MECP2):c.1152_1237del (p.His384fs) rs1557135314
NM_001110792.2(MECP2):c.1153_1207del (p.Ser385fs) rs1603307865
NM_001110792.2(MECP2):c.1154C>G (p.Ser385Ter) rs267608569
NM_001110792.2(MECP2):c.1157_1227del (p.Glu386fs) rs1557135447
NM_001110792.2(MECP2):c.1159_1238del (p.Ser387fs) rs1557135299
NM_001110792.2(MECP2):c.1163_1173del (p.Pro388fs) rs267608340
NM_001110792.2(MECP2):c.1163_1215del (p.Pro388fs) rs1557135575
NM_001110792.2(MECP2):c.1165_*568delinsCCGTGG (p.Lys389fs) rs1557134378
NM_001110792.2(MECP2):c.1168_1238del (p.Ala390fs) rs1557135295
NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs) rs267608571
NM_001110792.2(MECP2):c.1173dup (p.Val392fs) rs1557135793
NM_001110792.2(MECP2):c.1178_1263del (p.Pro393fs) rs1557135212
NM_001110792.2(MECP2):c.1181_1230del (p.Leu394fs) rs267608573
NM_001110792.2(MECP2):c.1182_*452del (p.Leu394_Ter499delinsXaa) rs1557134481
NM_001110792.2(MECP2):c.1186_1228del (p.Pro396fs) rs63749023
NM_001110792.2(MECP2):c.1187_1224del (p.Pro396fs) rs267608574
NM_001110792.2(MECP2):c.1187_1227del (p.Pro396fs) rs63749024
NM_001110792.2(MECP2):c.1188_*29del (p.Pro396_Ter499delinsXaa) rs1557134779
NM_001110792.2(MECP2):c.1188_1191del (p.Pro397fs) rs267608576
NM_001110792.2(MECP2):c.1188_1231del (p.Pro397fs) rs267608372
NM_001110792.2(MECP2):c.1189_1226del (p.Pro397fs) rs267608577
NM_001110792.2(MECP2):c.1190_1221del (p.Pro397fs) rs267608578
NM_001110792.2(MECP2):c.1190_1233del (p.Pro397fs) rs267608579
NM_001110792.2(MECP2):c.1191_1219del (p.Pro399fs) rs267608580
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs) rs267608329
NM_001110792.2(MECP2):c.1192_1193dup (p.Pro399fs) rs267608584
NM_001110792.2(MECP2):c.1192_1208del (p.Pro397_Leu398insTer) rs267608582
NM_001110792.2(MECP2):c.1193_*944del (p.Leu398fs)
NM_001110792.2(MECP2):c.1193_1223del (p.Leu398fs) rs61754419
NM_001110792.2(MECP2):c.1193_1224del (p.Leu398fs) rs267608585
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1193_1235del (p.Leu398fs) rs267608587
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) rs63749748
NM_001110792.2(MECP2):c.1194_*117del (p.Pro399fs) rs1557134720
NM_001110792.2(MECP2):c.1194_*261del (p.Pro399fs) rs1557134621
NM_001110792.2(MECP2):c.1194_1203del (p.Pro399fs) rs63583161
NM_001110792.2(MECP2):c.1194_1222del (p.Pro399fs) rs63749029
NM_001110792.2(MECP2):c.1194_1222delinsCCA (p.Pro399fs) rs386134271
NM_001110792.2(MECP2):c.1194_1234del (p.Pro399fs) rs267608588
NM_001110792.2(MECP2):c.1194_1236del (p.Pro399fs) rs63009262
NM_001110792.2(MECP2):c.1195_1196delinsT (p.Pro399fs) rs267608590
NM_001110792.2(MECP2):c.1195_1237del (p.Pro399fs) rs63749030
NM_001110792.2(MECP2):c.1195_1494del (p.Pro399_Ser498del) rs1557134858
NM_001110792.2(MECP2):c.1196_1202del (p.Pro399fs) rs267608332
NM_001110792.2(MECP2):c.1196_1221del (p.Pro399fs) rs267608591
NM_001110792.2(MECP2):c.1196_1224del (p.Pro399fs) rs267608593
NM_001110792.2(MECP2):c.1196_1236del (p.Pro399fs) rs267608592
NM_001110792.2(MECP2):c.1197_1241delinsA (p.Pro400_Pro401insTer) rs267608596
NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter) rs267608597
NM_001110792.2(MECP2):c.1199_*39del (p.Pro400fs) rs1557134770
NM_001110792.2(MECP2):c.1199_1215del (p.Pro400fs) rs267608601
NM_001110792.2(MECP2):c.1199_1224del (p.Pro400fs) rs267608600
NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs) rs267608589
NM_001110792.2(MECP2):c.1199_1319delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA (p.Pro400_Gly440delinsGlnTer) rs1557135110
NM_001110792.2(MECP2):c.1200_1220delinsCTGAGCCCCAGGACTTGAGCA (p.Pro401_Ser407delinsTer) rs786205019
NM_001110792.2(MECP2):c.1200_1230del (p.Pro403fs) rs786205020
NM_001110792.2(MECP2):c.1200_1242del (p.Pro401fs) rs267608603
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.1200del (p.Pro401fs) rs267608606
NM_001110792.2(MECP2):c.1201_1226del (p.Pro401fs) rs267608607
NM_001110792.2(MECP2):c.1203_1236del (p.Pro402fs) rs267608343
NM_001110792.2(MECP2):c.1206_1243del (p.Pro402_Pro403insTer) rs267608609
NM_001110792.2(MECP2):c.1216G>T (p.Glu406Ter) rs63094662
NM_001110792.2(MECP2):c.1216_1217insT (p.Glu406fs) rs786205021
NM_001110792.2(MECP2):c.1216_1241del (p.Glu406fs) rs267608333
NM_001110792.2(MECP2):c.1225G>T (p.Glu409Ter) rs56268439
NM_001110792.2(MECP2):c.1226dup (p.Asp410fs) rs267608610
NM_001110792.2(MECP2):c.1230_1231insT (p.Pro411fs) rs61753011
NM_001110792.2(MECP2):c.1232_1302del (p.Pro411fs) rs1557135137
NM_001110792.2(MECP2):c.1233dup (p.Thr412fs) rs267608612
NM_001110792.2(MECP2):c.1236dup (p.Ser413fs) rs267608613
NM_001110792.2(MECP2):c.1238dup (p.Ser413fs) rs267608614
NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter) rs61753965
NM_001110792.2(MECP2):c.1259_1301del (p.Leu420fs) rs63749038
NM_001110792.2(MECP2):c.1270_1373del (p.Val424fs) rs1557135039
NM_001110792.2(MECP2):c.1271_1296del (p.Val424fs) rs267608617
NM_001110792.2(MECP2):c.127del (p.Lys42_Val43insTer) rs61754427
NM_001110792.2(MECP2):c.1301_1325delinsAGCGGCCG (p.Gly434fs) rs63749064
NM_001110792.2(MECP2):c.1344_1345del (p.Gln449fs) rs61753972
NM_001110792.2(MECP2):c.1356dup (p.Ala453fs) rs267608624
NM_001110792.2(MECP2):c.136_139del (p.Asp46fs) rs61754428
NM_001110792.2(MECP2):c.1393C>T (p.Arg465Ter) rs61753979
NM_001110792.2(MECP2):c.1399G>T (p.Glu467Ter) rs104894864
NM_001110792.2(MECP2):c.1400_1401insC (p.Glu467fs) rs267608627
NM_001110792.2(MECP2):c.140_143AGAA[1] (p.Glu49fs) rs267608426
NM_001110792.2(MECP2):c.143_144del (p.Lys48fs) rs267608425
NM_001110792.2(MECP2):c.143_149del (p.Lys48fs) rs267608424
NM_001110792.2(MECP2):c.1444_1447delinsTG (p.Asn482fs) rs786205023
NM_001110792.2(MECP2):c.1447_1448AG[2] (p.Glu484fs) rs267608634
NM_001110792.2(MECP2):c.1484_1485AG[1] (p.Arg496fs) rs267608638
NM_001110792.2(MECP2):c.1484_1485AG[4] (p.Val497fs) rs267608638
NM_001110792.2(MECP2):c.1486_*12del (p.Arg496_Ter499del) rs267608637
NM_001110792.2(MECP2):c.1491_1492dup (p.Ser498fs) rs267608641
NM_001110792.2(MECP2):c.153_154AG[1] (p.Glu52fs) rs267608428
NM_001110792.2(MECP2):c.153dup (p.Glu52fs) rs267608427
NM_001110792.2(MECP2):c.162dup (p.His55fs) rs61754430
NM_001110792.2(MECP2):c.176dup (p.Pro60fs) rs61754431
NM_001110792.2(MECP2):c.182C>A (p.Ser61Ter) rs61754432
NM_001110792.2(MECP2):c.182C>G (p.Ser61Ter) rs61754432
NM_001110792.2(MECP2):c.18_22CGCCG[3] (p.Ser10fs) rs786205038
NM_001110792.2(MECP2):c.203_204del (p.Pro68fs) rs267608434
NM_001110792.2(MECP2):c.223_224GA[1] (p.Glu75fs) rs61754436
NM_001110792.2(MECP2):c.230C>G (p.Ser77Ter) rs61754437
NM_001110792.2(MECP2):c.230C>T (p.Ser77Leu) rs61754437
NM_001110792.2(MECP2):c.237del (p.Ser80fs) rs61754438
NM_001110792.2(MECP2):c.239C>G (p.Ser80Ter) rs267608438
NM_001110792.2(MECP2):c.251_252insT (p.Ala85fs) rs1557137871
NM_001110792.2(MECP2):c.251del (p.Pro84fs) rs61754441
NM_001110792.2(MECP2):c.251dup (p.Ala85fs) rs61754441
NM_001110792.2(MECP2):c.269del (p.Ser90fs) rs267608442
NM_001110792.2(MECP2):c.279dup (p.Lys94fs) rs267608443
NM_001110792.2(MECP2):c.294_295del (p.Ile99fs) rs267608444
NM_001110792.2(MECP2):c.30_31del (p.Ser10fs) rs797045693
NM_001110792.2(MECP2):c.30delinsGA (p.Ser10fs) rs786205040
NM_001110792.2(MECP2):c.310G>T (p.Gly104Ter) rs267608445
NM_001110792.2(MECP2):c.310_311dup (p.Pro105fs) rs267608446
NM_001110792.2(MECP2):c.311dup (p.Pro105fs) rs267608446
NM_001110792.2(MECP2):c.331_333del (p.Thr111del) rs267608449
NM_001110792.2(MECP2):c.334C>G (p.Leu112Val) rs28935168
NM_001110792.2(MECP2):c.337C>T (p.Pro113Ser) rs61754452
NM_001110792.2(MECP2):c.338C>A (p.Pro113His) rs61754453
NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg) rs61754453
NM_001110792.2(MECP2):c.338C>T (p.Pro113Leu) rs61754453
NM_001110792.2(MECP2):c.347G>A (p.Trp116Ter) rs61754455
NM_001110792.2(MECP2):c.347_359del (p.Trp116fs) rs63749010
NM_001110792.2(MECP2):c.351dup (p.Arg118fs) rs61754456
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.353G>A (p.Arg118Gln) rs61754457
NM_001110792.2(MECP2):c.354_357dup (p.Leu120fs) rs786205025
NM_001110792.2(MECP2):c.362dup (p.Gln122fs) rs267608452
NM_001110792.2(MECP2):c.377_385del (p.Gly126_Ser128del) rs1557137675
NM_001110792.2(MECP2):c.381del (p.Ser128fs) rs61755761
NM_001110792.2(MECP2):c.411del (p.Asn138fs) rs267608457
NM_001110792.2(MECP2):c.414_1497del (p.Pro139fs)
NM_001110792.2(MECP2):c.418C>T (p.Gln140Ter) rs267608469
NM_001110792.2(MECP2):c.418_1225del (p.Gln140fs)
NM_001110792.2(MECP2):c.426del (p.Ala143fs) rs786205895
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001110792.2(MECP2):c.445_1194del (p.Glu149_Leu398del)
NM_001110792.2(MECP2):c.446A>G (p.Glu149Gly) rs61748392
NM_001110792.2(MECP2):c.447del (p.Glu149fs) rs61748393
NM_001110792.2(MECP2):c.449T>A (p.Leu150Ter) rs267608475
NM_001110792.2(MECP2):c.44_57dup (p.Arg20fs) rs1603341328
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.456del (p.Tyr153fs) rs267608476
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter) rs61748396
NM_001110792.2(MECP2):c.464_465insT (p.Glu155fs) rs61748398
NM_001110792.2(MECP2):c.466A>T (p.Lys156Ter) rs61748399
NM_001110792.2(MECP2):c.467del (p.Lys156fs) rs61748400
NM_001110792.2(MECP2):c.475del (p.Asp159fs) rs62952161
NM_001110792.2(MECP2):c.47_57del (p.Gly16fs) rs786205042
NM_001110792.2(MECP2):c.487del (p.Asp163fs) rs61748402
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.490C>G (p.Pro164Ala) rs179363900
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.500T>C (p.Phe167Ser) rs28934905
NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu) rs61748408
NM_001110792.2(MECP2):c.506_507del (p.Phe169fs) rs267608483
NM_001110792.2(MECP2):c.506dup (p.Thr170fs) rs267608482
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.511del (p.Thr170_Val171insTer) rs267608485
NM_001110792.2(MECP2):c.516_517del (p.Gly173fs) rs267608486
NM_001110792.2(MECP2):c.516del (p.Arg174fs) rs61748415
NM_001110792.2(MECP2):c.519del (p.Arg174fs) rs61748418
NM_001110792.2(MECP2):c.520A>G (p.Arg174Gly) rs727505391
NM_001110792.2(MECP2):c.520dup (p.Arg174fs) rs267608487
NM_001110792.2(MECP2):c.524_1225del (p.Gly175_Ser408del) rs1557135461
NM_001110792.2(MECP2):c.524_525del (p.Gly175fs) rs267608488
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.538C>A (p.Arg180=) rs61748421
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.541G>T (p.Glu181Ter) rs1603309480
NM_001110792.2(MECP2):c.544C>T (p.Gln182Ter) rs61748425
NM_001110792.2(MECP2):c.55_56GA[2] (p.Arg20fs) rs786205047
NM_001110792.2(MECP2):c.567del (p.Lys189fs) rs61749703
NM_001110792.2(MECP2):c.574A>T (p.Lys192Ter) rs267608495
NM_001110792.2(MECP2):c.579_580del (p.Pro194fs) rs267608496
NM_001110792.2(MECP2):c.590del (p.Gly197fs) rs61749707
NM_001110792.2(MECP2):c.5C>T (p.Ala2Val) rs179363901
NM_001110792.2(MECP2):c.602del (p.Gly201fs) rs61749708
NM_001110792.2(MECP2):c.602dup (p.Arg202fs) rs61749708
NM_001110792.2(MECP2):c.603dup (p.Arg202fs) rs61749709
NM_001110792.2(MECP2):c.610A>T (p.Lys204Ter) rs193922679
NM_001110792.2(MECP2):c.62+1G>A rs786205048
NM_001110792.2(MECP2):c.62+2_62+3del rs786205049
NM_001110792.2(MECP2):c.62+5395A>T rs786205892
NM_001110792.2(MECP2):c.628A>T (p.Arg210Ter) rs61749717
NM_001110792.2(MECP2):c.63-94_1243del
NM_001110792.2(MECP2):c.634A>T (p.Lys212Ter) rs61749718
NM_001110792.2(MECP2):c.637dup (p.Ala213fs) rs267608503
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381
NM_001110792.2(MECP2):c.644_645insA (p.Ser216fs) rs267608506
NM_001110792.2(MECP2):c.647C>G (p.Ser216Ter) rs61749724
NM_001110792.2(MECP2):c.647_648delinsAG (p.Ser216Ter) rs267608507
NM_001110792.2(MECP2):c.648_649AG[1] (p.Glu217fs) rs1603309190
NM_001110792.2(MECP2):c.649G>T (p.Glu217Ter) rs61749726
NM_001110792.2(MECP2):c.64G>T (p.Glu22Ter) rs61754421
NM_001110792.2(MECP2):c.652_1158del (p.Gly218_Glu386del) rs1557135847
NM_001110792.2(MECP2):c.653del (p.Gly218fs) rs61749727
NM_001110792.2(MECP2):c.656dup (p.Gln220fs) rs61749728
NM_001110792.2(MECP2):c.658C>T (p.Gln220Ter) rs61749729
NM_001110792.2(MECP2):c.687_688del (p.Gly230fs) rs267608510
NM_001110792.2(MECP2):c.690_693del (p.Lys231fs) rs61749734
NM_001110792.2(MECP2):c.701_707dup (p.Met236fs) rs797045695
NM_001110792.2(MECP2):c.709C>A (p.Pro237Thr) rs267608513
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg) rs61749715
NM_001110792.2(MECP2):c.710C>T (p.Pro237Leu) rs61749715
NM_001110792.2(MECP2):c.712_713insA (p.Phe238fs) rs267608514
NM_001110792.2(MECP2):c.713_714insA (p.Phe238fs) rs61749736
NM_001110792.2(MECP2):c.714del (p.Gln239fs) rs1060499621
NM_001110792.2(MECP2):c.71_78dup (p.Asp27fs) rs63749008
NM_001110792.2(MECP2):c.722C>A (p.Ser241Ter) rs61749739
NM_001110792.2(MECP2):c.725_792del (p.Pro242fs) rs1557136493
NM_001110792.2(MECP2):c.731del (p.Gly244fs) rs63260260
NM_001110792.2(MECP2):c.731dup (p.Lys245fs) rs63260260
NM_001110792.2(MECP2):c.732del (p.Lys245fs) rs61749741
NM_001110792.2(MECP2):c.737_1311del (p.Ala246fs) rs1569548274
NM_001110792.2(MECP2):c.746del (p.Gly249fs) rs61749743
NM_001110792.2(MECP2):c.746dup (p.Gly250fs) rs61749743
NM_001110792.2(MECP2):c.747_1305del (p.Gly250fs) rs1557135125
NM_001110792.2(MECP2):c.756dup (p.Thr253fs) rs267608518
NM_001110792.2(MECP2):c.766C>T (p.Gln256Ter) rs61749747
NM_001110792.2(MECP2):c.767_1202del (p.Gln256fs) rs1557135670
NM_001110792.2(MECP2):c.770_795del (p.Val257fs) rs267608519
NM_001110792.2(MECP2):c.772_773insAT (p.Met258fs) rs61749749
NM_001110792.2(MECP2):c.772_779delinsGTG (p.Met258fs) rs267608520
NM_001110792.2(MECP2):c.775del (p.Met258_Val259insTer) rs61749750
NM_001110792.2(MECP2):c.783_787dup (p.Pro263fs) rs1557136523
NM_001110792.2(MECP2):c.784_785insT (p.Arg262fs) rs1557136549
NM_001110792.2(MECP2):c.784_789delinsGGCCG (p.Arg262fs) rs61750225
NM_001110792.2(MECP2):c.784dup (p.Arg262fs) rs61749752
NM_001110792.2(MECP2):c.785dup (p.Gly264fs) rs1603308963
NM_001110792.2(MECP2):c.786_810dup (p.Ala271delinsProArgGlnGluAlaLysSerTer) rs1064797104
NM_001110792.2(MECP2):c.786delinsTCAGGAAGCTT (p.Pro263fs) rs267608521
NM_001110792.2(MECP2):c.788_789dup (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.789del (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.789dup (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.791del (p.Gly264fs) rs61750232
NM_001110792.2(MECP2):c.791dup (p.Arg265fs) rs61750232
NM_001110792.2(MECP2):c.792_795del (p.Arg265fs) rs267608523
NM_001110792.2(MECP2):c.792_799dup (p.Arg267fs) rs61750235
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.802A>T (p.Lys268Ter) rs786205027
NM_001110792.2(MECP2):c.802_815dup (p.Asp272fs) rs267608524
NM_001110792.2(MECP2):c.803_1211del (p.Lys268fs) rs1557135596
NM_001110792.2(MECP2):c.820C>T (p.Gln274Ter) rs267608525
NM_001110792.2(MECP2):c.821_854del (p.Gln274fs) rs786205028
NM_001110792.2(MECP2):c.828_829del (p.Pro277fs) rs267608526
NM_001110792.2(MECP2):c.835A>T (p.Lys279Ter) rs61750238
NM_001110792.2(MECP2):c.83_93del (p.Gln28fs) rs797045694
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.844del (p.Arg282fs) rs62931162
NM_001110792.2(MECP2):c.846_849del (p.Lys283fs) rs267608529
NM_001110792.2(MECP2):c.848_854del (p.Lys283fs) rs61750242
NM_001110792.2(MECP2):c.852_868del (p.Gly285fs) rs63749012
NM_001110792.2(MECP2):c.858_1220del (p.Val287_Ser407del) rs1557135541
NM_001110792.2(MECP2):c.858_859TG[1] (p.Val287fs) rs1557136374
NM_001110792.2(MECP2):c.866del (p.Ala289fs) rs61750247
NM_001110792.2(MECP2):c.86dup (p.Asp29fs) rs267608416
NM_001110792.2(MECP2):c.870_975del (p.Ala291fs) rs1557136146
NM_001110792.2(MECP2):c.885_1272del (p.Lys296fs) rs1557135197
NM_001110792.2(MECP2):c.887_1224del (p.Lys296fs) rs1557135499
NM_001110792.2(MECP2):c.888_891AAAG[1] (p.Lys298fs) rs61750256
NM_001110792.2(MECP2):c.891_895delinsAAAAAAAAGACT (p.Ala299fs) rs786205030
NM_001110792.2(MECP2):c.901A>T (p.Lys301Ter) rs61750259
NM_001110792.2(MECP2):c.901_902del (p.Lys301fs) rs267608536
NM_001110792.2(MECP2):c.903_1259delinsA (p.Ser303fs) rs1557135218
NM_001110792.2(MECP2):c.905_916delinsCACA (p.Glu302fs) rs786205031
NM_001110792.2(MECP2):c.905dup (p.Ser303fs) rs267608538
NM_001110792.2(MECP2):c.907_1080del (p.Ile305_Ser362del) rs1557136013
NM_001110792.2(MECP2):c.910_911insA (p.Ser304fs) rs61751361
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.916_920del (p.Arg306fs) rs61751364
NM_001110792.2(MECP2):c.917_1208del (p.Arg306fs) rs1603307859
NM_001110792.2(MECP2):c.917_938del (p.Arg306fs) rs267608540
NM_001110792.2(MECP2):c.919del (p.Ser307fs) rs267608541
NM_001110792.2(MECP2):c.91C>T (p.Gln31Ter) rs61754425
NM_001110792.2(MECP2):c.925C>T (p.Gln309Ter) rs61751367
NM_001110792.2(MECP2):c.92dup (p.Leu33fs) rs267608417
NM_001110792.2(MECP2):c.930_1131del (p.Glu310fs) rs1557135907
NM_001110792.2(MECP2):c.934_1135del (p.Val312fs) rs1557135893
NM_001110792.2(MECP2):c.934_1202del (p.Val312fs) rs1557135666
NM_001110792.2(MECP2):c.934_937del (p.Val312fs) rs62701461
NM_001110792.2(MECP2):c.934_940del (p.Val312fs) rs267608543
NM_001110792.2(MECP2):c.934del (p.Val312fs) rs267608544
NM_001110792.2(MECP2):c.941C>G (p.Pro314Arg) rs61749723
NM_001110792.2(MECP2):c.942_1174delinsAC (p.Ile315_Val392delinsLeu) rs1557135788
NM_001110792.2(MECP2):c.942del (p.Ile315fs) rs267608548
NM_001110792.2(MECP2):c.950_1208del (p.Lys317fs) rs1557135622
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001110792.2(MECP2):c.953G>A (p.Arg318His) rs61751443
NM_001110792.2(MECP2):c.95del (p.Gly32fs) rs1603310910
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001110792.2(MECP2):c.988dup (p.Glu330fs) rs1603308287
NM_001110792.2(MECP2):c.998_1303delinsG (p.Lys333fs) rs1557135128
NM_004992.3(MECP2):c.(?_-1)_(26_?)del
NM_004992.3(MECP2):c.(?_-226)_(*1_?)del
NM_004992.3(MECP2):c.(?_-226)_26+?del
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.-98-?_377+?del
NM_004992.3(MECP2):c.1101_(1396_?)del
NM_004992.3(MECP2):c.1276_*113del299ins3
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.377+1G>A rs267608463
NM_004992.3(MECP2):c.377+1G>T rs267608463
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.481_987del507ins8
NM_004992.3(MECP2):c.763_1383del621ins15 (p.?)
NM_004992.3(MECP2):c.820_1153del334ins67 (p.?)
NM_004992.3(MECP2):c.830_831ins23 (p.?)
NM_004992.3(MECP2):c.943_1140del198ins6
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
Single allele

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