ClinVar Miner

List of variants reported as likely pathogenic for X-linked disease by Invitae

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 295
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HGVS dbSNP gnomAD frequency
NM_000033.4(ABCD1):c.785C>T (p.Ser262Leu) rs1204814114 0.00002
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys) rs128624215 0.00001
NM_000033.4(ABCD1):c.1567C>A (p.Leu523Ile) rs1159943880 0.00001
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr) rs782293513 0.00001
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr) rs782487174 0.00001
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931 0.00001
NM_006950.3(SYN1):c.1258C>T (p.Arg420Trp) rs780269723 0.00001
NM_006950.3(SYN1):c.1259G>A (p.Arg420Gln) rs941190653 0.00001
NC_000023.10:g.(?_135292010)_(135292184_?)del
NC_000023.10:g.(?_135738495)_(135741594_?)del
NC_000023.10:g.(?_149761093)_(149767213_?)del
NC_000023.10:g.(?_149783042)_(149787632_?)del
NC_000023.10:g.(?_149818176)_(149818384_?)del
NC_000023.10:g.(?_149826274)_(149826520_?)del
NC_000023.10:g.(?_149826294)_(149826500_?)del
NC_000023.10:g.(?_153002694)_153020558del
NC_000023.10:g.(?_47432243)_(47436920_?)del
NC_000023.10:g.(?_62875364)_(62944601_?)del
NC_000023.10:g.(?_76937002)_(76972730_?)dup
NC_000023.10:g.(?_76953051)_(76954137_?)dup
NC_000023.10:g.(?_99596881)_(99597093_?)dup
NC_000023.11:g.(?_123888599)_(123888738_?)dup
NC_000023.11:g.(?_136650246)_(136654450_?)del
NM_000033.4(ABCD1):c.1006A>G (p.Lys336Glu)
NM_000033.4(ABCD1):c.1027G>C (p.Gly343Arg) rs2091726796
NM_000033.4(ABCD1):c.1028G>A (p.Gly343Asp) rs2091726809
NM_000033.4(ABCD1):c.1081+1G>C
NM_000033.4(ABCD1):c.1082-1G>A rs1557054153
NM_000033.4(ABCD1):c.1214C>T (p.Ser405Leu)
NM_000033.4(ABCD1):c.1241G>A (p.Gly414Asp)
NM_000033.4(ABCD1):c.1259A>C (p.His420Pro)
NM_000033.4(ABCD1):c.1394-2_1404del
NM_000033.4(ABCD1):c.1442T>C (p.Ile481Thr) rs2148396070
NM_000033.4(ABCD1):c.1450C>T (p.Pro484Ser)
NM_000033.4(ABCD1):c.1478T>A (p.Leu493His)
NM_000033.4(ABCD1):c.1478T>C (p.Leu493Pro)
NM_000033.4(ABCD1):c.1501A>T (p.Met501Leu) rs1603235267
NM_000033.4(ABCD1):c.1508T>C (p.Leu503Pro) rs2091762267
NM_000033.4(ABCD1):c.1519G>A (p.Gly507Ser) rs2148397545
NM_000033.4(ABCD1):c.1520G>T (p.Gly507Val)
NM_000033.4(ABCD1):c.1523C>T (p.Pro508Leu) rs1569541087
NM_000033.4(ABCD1):c.1529G>A (p.Gly510Asp) rs2148397558
NM_000033.4(ABCD1):c.1534G>C (p.Gly512Arg) rs1569541088
NM_000033.4(ABCD1):c.1535G>T (p.Gly512Val) rs2148397565
NM_000033.4(ABCD1):c.1547_1548inv (p.Leu516Pro)
NM_000033.4(ABCD1):c.1570T>C (p.Trp524Arg)
NM_000033.4(ABCD1):c.1600C>T (p.Pro534Ser)
NM_000033.4(ABCD1):c.1631A>G (p.Gln544Arg) rs2091763089
NM_000033.4(ABCD1):c.1675T>C (p.Tyr559His) rs2091764510
NM_000033.4(ABCD1):c.1678C>A (p.Pro560Thr) rs2091764526
NM_000033.4(ABCD1):c.1679C>G (p.Pro560Arg) rs398123105
NM_000033.4(ABCD1):c.1697T>C (p.Met566Thr) rs2148397936
NM_000033.4(ABCD1):c.1731_1742del (p.Glu577_Leu580del)
NM_000033.4(ABCD1):c.1741_1755del (p.Asp581_Leu585del) rs2091764754
NM_000033.4(ABCD1):c.1772G>C (p.Arg591Pro)
NM_000033.4(ABCD1):c.1802G>C (p.Trp601Ser)
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.4(ABCD1):c.1822G>A (p.Gly608Ser) rs2091772331
NM_000033.4(ABCD1):c.1823G>C (p.Gly608Ala) rs78993751
NM_000033.4(ABCD1):c.1826A>G (p.Glu609Gly) rs1557055260
NM_000033.4(ABCD1):c.1865+1G>A rs1569541198
NM_000033.4(ABCD1):c.1866-1G>A rs1557055311
NM_000033.4(ABCD1):c.1866-1G>C rs1557055311
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.4(ABCD1):c.1919A>G (p.Glu640Gly) rs1603236012
NM_000033.4(ABCD1):c.1939G>T (p.Ala647Ser)
NM_000033.4(ABCD1):c.1961T>A (p.Leu654Gln)
NM_000033.4(ABCD1):c.1967C>T (p.Ser656Phe) rs1603236020
NM_000033.4(ABCD1):c.1999C>T (p.His667Tyr) rs2091775068
NM_000033.4(ABCD1):c.2003C>T (p.Thr668Ile) rs1557055398
NM_000033.4(ABCD1):c.2051T>C (p.Leu684Pro) rs2091775375
NM_000033.4(ABCD1):c.229_237del (p.Trp77_Leu79del) rs1569540680
NM_000033.4(ABCD1):c.309C>A (p.Ser103Arg)
NM_000033.4(ABCD1):c.338G>C (p.Arg113Pro)
NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro) rs1603231848
NM_000033.4(ABCD1):c.359G>C (p.Arg120Pro)
NM_000033.4(ABCD1):c.412CTC[1] (p.Leu139del) rs1557052351
NM_000033.4(ABCD1):c.428C>T (p.Pro143Leu)
NM_000033.4(ABCD1):c.430G>A (p.Ala144Thr)
NM_000033.4(ABCD1):c.442A>T (p.Asn148Tyr) rs1557052362
NM_000033.4(ABCD1):c.451A>G (p.Ile151Val)
NM_000033.4(ABCD1):c.455G>A (p.Arg152His)
NM_000033.4(ABCD1):c.487C>G (p.Arg163Gly) rs1569540695
NM_000033.4(ABCD1):c.488G>A (p.Arg163His) rs1057517954
NM_000033.4(ABCD1):c.488G>T (p.Arg163Leu) rs1057517954
NM_000033.4(ABCD1):c.520T>C (p.Tyr174His)
NM_000033.4(ABCD1):c.578C>G (p.Pro193Arg) rs2091708534
NM_000033.4(ABCD1):c.582C>G (p.Asp194Glu) rs1569540703
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu) rs1569540710
NM_000033.4(ABCD1):c.659T>C (p.Leu220Pro) rs2091709142
NM_000033.4(ABCD1):c.659T>G (p.Leu220Arg)
NM_000033.4(ABCD1):c.661G>A (p.Asp221Asn) rs2091709198
NM_000033.4(ABCD1):c.787C>T (p.Pro263Ser) rs2091710960
NM_000033.4(ABCD1):c.788C>T (p.Pro263Leu)
NM_000033.4(ABCD1):c.796G>T (p.Gly266Trp) rs128624218
NM_000033.4(ABCD1):c.797G>C (p.Gly266Ala)
NM_000033.4(ABCD1):c.824G>A (p.Arg275Gln)
NM_000033.4(ABCD1):c.829G>A (p.Gly277Arg) rs1603232195
NM_000033.4(ABCD1):c.830G>C (p.Gly277Ala)
NM_000033.4(ABCD1):c.830G>T (p.Gly277Val) rs2091711473
NM_000033.4(ABCD1):c.836T>C (p.Leu279Pro)
NM_000033.4(ABCD1):c.847C>T (p.His283Tyr) rs782509393
NM_000033.4(ABCD1):c.850T>C (p.Ser284Pro)
NM_000033.4(ABCD1):c.853C>G (p.Arg285Gly) rs782334088
NM_000033.4(ABCD1):c.869C>T (p.Ser290Leu)
NM_000033.4(ABCD1):c.873G>C (p.Glu291Asp) rs2148389975
NM_000033.4(ABCD1):c.874G>A (p.Glu292Lys) rs2091712008
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser) rs1603232243
NM_000033.4(ABCD1):c.900G>A (p.Glu300=) rs1569540743
NM_000033.4(ABCD1):c.901-9_903del rs2148391889
NM_000033.4(ABCD1):c.905A>G (p.Glu302Gly) rs2091726251
NM_000033.4(ABCD1):c.917T>G (p.Leu306Arg)
NM_000052.7(ATP7A):c.1544-2A>T rs2077751404
NM_000052.7(ATP7A):c.2172+5G>A rs797045347
NM_000052.7(ATP7A):c.2172+5G>C rs797045347
NM_000052.7(ATP7A):c.2498+2T>G rs797045357
NM_000052.7(ATP7A):c.2773_2781+4del
NM_000052.7(ATP7A):c.2916+3_2916+6del rs797045364
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu) rs797045365
NM_000052.7(ATP7A):c.4005+1G>T rs797045391
NM_000052.7(ATP7A):c.4005+5G>A
NM_000052.7(ATP7A):c.4006-1G>A rs1557238665
NM_000052.7(ATP7A):c.610+2T>C
NM_000074.3(CD40LG):c.346G>T (p.Gly116Cys) rs2148552406
NM_000074.3(CD40LG):c.431G>A (p.Gly144Glu) rs886039326
NM_000074.3(CD40LG):c.514T>C (p.Tyr172His) rs2076127133
NM_000074.3(CD40LG):c.515A>G (p.Tyr172Cys)
NM_000074.3(CD40LG):c.761C>A (p.Thr254Lys) rs193922136
NM_000074.3(CD40LG):c.767T>C (p.Phe256Ser) rs1057521128
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del) rs782507902
NM_000117.3(EMD):c.266-3A>G rs2148128459
NM_000252.3(MTM1):c.1204G>A (p.Gly402Arg) rs1569565525
NM_000252.3(MTM1):c.1212A>C (p.Glu404Asp) rs2040152678
NM_000252.3(MTM1):c.1261-2A>C rs2148510791
NM_000252.3(MTM1):c.1354-2A>T rs781835307
NM_000252.3(MTM1):c.1405C>G (p.His469Asp)
NM_000252.3(MTM1):c.343-1G>A rs2148461695
NM_000252.3(MTM1):c.444+2T>A
NM_000252.3(MTM1):c.575A>G (p.Tyr192Cys) rs587783838
NM_000252.3(MTM1):c.679-1G>A rs672601324
NM_000252.3(MTM1):c.679G>A (p.Val227Met) rs587783850
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg) rs398123274
NM_000252.3(MTM1):c.728G>A (p.Ser243Asn) rs2039919583
NM_000377.3(WAS):c.1339-2A>G rs2147267240
NM_000377.3(WAS):c.142A>C (p.Thr48Pro) rs2062412197
NM_000377.3(WAS):c.250T>C (p.Phe84Leu) rs2147262951
NM_000377.3(WAS):c.373G>C (p.Gly125Arg) rs2147263882
NM_000377.3(WAS):c.383T>G (p.Phe128Cys)
NM_000377.3(WAS):c.463+1G>A
NM_000377.3(WAS):c.70T>C (p.Ser24Pro) rs2062410722
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro) rs104894899
NM_000475.5(NR0B1):c.1168+1_1168+20del rs1555972943
NM_000475.5(NR0B1):c.1231_1234del (p.Leu411fs) rs1569268070
NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro) rs104894888
NM_000489.6(ATRX):c.485-1G>A rs2148657465
NM_000489.6(ATRX):c.485-2A>T
NM_000489.6(ATRX):c.5368G>A (p.Ala1790Thr)
NM_000489.6(ATRX):c.5540A>G (p.Tyr1847Cys) rs1057521987
NM_000489.6(ATRX):c.6532C>T (p.Arg2178Trp) rs1057517707
NM_000489.6(ATRX):c.6743T>C (p.Ile2248Thr) rs2147761759
NM_001110556.2(FLNA):c.1065+1G>T rs2067762985
NM_001110556.2(FLNA):c.1066-1G>A rs2148118126
NM_001110556.2(FLNA):c.2405-1G>C
NM_001110556.2(FLNA):c.280A>G (p.Asn94Asp)
NM_001110556.2(FLNA):c.2827-2A>C rs2067713488
NM_001110556.2(FLNA):c.310C>G (p.Leu104Val)
NM_001110556.2(FLNA):c.374-2A>G
NM_001110556.2(FLNA):c.3805+1G>A
NM_001110556.2(FLNA):c.3805+2T>C
NM_001110556.2(FLNA):c.4142+1G>A rs1603360906
NM_001110556.2(FLNA):c.4143-1G>T rs1557177485
NM_001110556.2(FLNA):c.418C>T (p.Leu140Phe) rs2148119483
NM_001110556.2(FLNA):c.4596_4598+5del rs1557177279
NM_001110556.2(FLNA):c.4598+1G>A
NM_001110556.2(FLNA):c.5417-2A>G
NM_001110556.2(FLNA):c.5686+1G>C rs1557176315
NM_001110556.2(FLNA):c.622+1G>A rs2148119316
NM_001110556.2(FLNA):c.6425_6428del (p.Glu2142fs) rs2148104376
NM_001110556.2(FLNA):c.6503-2A>C rs112363874
NM_001110556.2(FLNA):c.7023+1G>T rs2148102980
NM_001110556.2(FLNA):c.7333+1G>C rs1557175424
NM_001110556.2(FLNA):c.733G>A (p.Glu245Lys) rs797044753
NM_001110556.2(FLNA):c.7768CTG[1] (p.Leu2591del) rs2067597172
NM_001110556.2(FLNA):c.7930G>C (p.Val2644Leu)
NM_001110556.2(FLNA):c.868+1G>A
NM_001111125.3(IQSEC2):c.1401+2T>A
NM_001111125.3(IQSEC2):c.1402-124_1533del
NM_001111125.3(IQSEC2):c.2460-2A>G rs1602279457
NM_001111125.3(IQSEC2):c.2582+1del rs2074335019
NM_001111125.3(IQSEC2):c.2983C>T (p.Arg995Trp) rs1057521657
NM_001111125.3(IQSEC2):c.2984G>C (p.Arg995Pro)
NM_001111125.3(IQSEC2):c.3451+1G>C
NM_001111125.3(IQSEC2):c.3463C>G (p.Arg1155Gly) rs2074117985
NM_001111125.3(IQSEC2):c.3474C>T (p.Ser1158=) rs2147010150
NM_001111125.3(IQSEC2):c.586_707+728del rs2146544783
NM_001159699.2(FHL1):c.205-1G>A rs2073859427
NM_001159699.2(FHL1):c.377_379+24del rs2148373814
NM_001159699.2(FHL1):c.380-2A>G rs2148375467
NM_001159699.2(FHL1):c.498C>G (p.Cys166Trp) rs145445372
NM_001159699.2(FHL1):c.506G>A (p.Cys169Tyr) rs122458145
NM_001159699.2(FHL1):c.50T>C (p.Met17Thr)
NM_001159699.2(FHL1):c.874T>A (p.Cys292Ser) rs1556639771
NM_001167.4(XIAP):c.1099+2T>C rs2148097889
NM_001167.4(XIAP):c.1317_1318delinsAT (p.Gln440Ter) rs2148112156
NM_001184880.1(PCDH19):c.79_2616+17371del
NM_001184880.2(PCDH19):c.1019A>C (p.Asn340Thr) rs796052839
NM_001184880.2(PCDH19):c.1030C>G (p.Pro344Ala)
NM_001184880.2(PCDH19):c.1031C>A (p.Pro344Gln) rs796052811
NM_001184880.2(PCDH19):c.1114C>T (p.Arg372Trp) rs796052812
NM_001184880.2(PCDH19):c.1178C>T (p.Pro393Leu)
NM_001184880.2(PCDH19):c.1342G>T (p.Asp448Tyr) rs1569314809
NM_001184880.2(PCDH19):c.1786G>T (p.Asp596Tyr) rs1928365978
NM_001184880.2(PCDH19):c.2616+1G>A rs1602632270
NM_001184880.2(PCDH19):c.2675+2T>C
NM_001184880.2(PCDH19):c.268G>C (p.Asp90His) rs1555985780
NM_001184880.2(PCDH19):c.269A>G (p.Asp90Gly) rs2147542320
NM_001184880.2(PCDH19):c.371A>C (p.Asp124Ala) rs2147542056
NM_001184880.2(PCDH19):c.416C>T (p.Ser139Leu) rs1555985687
NM_001184880.2(PCDH19):c.437C>G (p.Thr146Arg) rs796052799
NM_001184880.2(PCDH19):c.437C>T (p.Thr146Met)
NM_001184880.2(PCDH19):c.592C>G (p.Arg198Gly) rs2147541358
NM_001184880.2(PCDH19):c.700A>G (p.Asn234Asp) rs1928438552
NM_001184880.2(PCDH19):c.745G>C (p.Glu249Gln) rs1602637340
NM_001184880.2(PCDH19):c.747A>C (p.Glu249Asp) rs2147540748
NM_001184880.2(PCDH19):c.790G>C (p.Asp264His) rs587784300
NM_001184880.2(PCDH19):c.887G>T (p.Gly296Val) rs1459520904
NM_001184880.2(PCDH19):c.967C>T (p.Pro323Ser) rs2147540049
NM_001399.5(EDA):c.1012A>G (p.Thr338Ala)
NM_001399.5(EDA):c.1036T>C (p.Cys346Arg)
NM_001399.5(EDA):c.1045G>T (p.Ala349Ser) rs132630317
NM_001399.5(EDA):c.1048G>T (p.Gly350Cys) rs2147519167
NM_001399.5(EDA):c.1066G>A (p.Ala356Thr)
NM_001399.5(EDA):c.1093G>A (p.Val365Met) rs2147519270
NM_001399.5(EDA):c.1144G>A (p.Ala382Thr) rs749830948
NM_001399.5(EDA):c.1152G>T (p.Arg384Ser) rs2020256386
NM_001399.5(EDA):c.163C>G (p.Leu55Val) rs1602221926
NM_001399.5(EDA):c.170C>G (p.Thr57Arg)
NM_001399.5(EDA):c.181T>A (p.Tyr61Asn) rs132630308
NM_001399.5(EDA):c.397-2A>T
NM_001399.5(EDA):c.473A>G (p.Lys158Arg) rs982209417
NM_001399.5(EDA):c.476G>C (p.Arg159Thr) rs1556039084
NM_001399.5(EDA):c.503-2del rs1602614385
NM_001399.5(EDA):c.526+5G>A rs397516664
NM_001399.5(EDA):c.565G>A (p.Gly189Arg)
NM_001399.5(EDA):c.607C>G (p.Pro203Ala)
NM_001399.5(EDA):c.607C>T (p.Pro203Ser) rs397516671
NM_001399.5(EDA):c.608C>T (p.Pro203Leu) rs2020138975
NM_001399.5(EDA):c.610G>A (p.Gly204Arg) rs2020139065
NM_001399.5(EDA):c.611G>A (p.Gly204Glu)
NM_001399.5(EDA):c.617C>T (p.Pro206Leu) rs1057520742
NM_001399.5(EDA):c.620G>A (p.Gly207Glu) rs2020139491
NM_001399.5(EDA):c.625C>T (p.Pro209Ser)
NM_001399.5(EDA):c.626C>T (p.Pro209Leu) rs132630315
NM_001399.5(EDA):c.641T>A (p.Met214Lys) rs1569404950
NM_001399.5(EDA):c.644G>A (p.Gly215Glu)
NM_001399.5(EDA):c.658C>G (p.Pro220Ala)
NM_001399.5(EDA):c.764G>A (p.Gly255Asp) rs1064793105
NM_001399.5(EDA):c.794-1G>A rs2147516240
NM_001399.5(EDA):c.805G>A (p.Gly269Arg)
NM_001399.5(EDA):c.826C>G (p.Arg276Gly)
NM_001399.5(EDA):c.836T>G (p.Met279Arg)
NM_001399.5(EDA):c.872G>T (p.Gly291Val)
NM_001399.5(EDA):c.881A>T (p.Glu294Val) rs397516678
NM_001399.5(EDA):c.895G>T (p.Gly299Cys)
NM_001399.5(EDA):c.928T>G (p.Tyr310Asp)
NM_001399.5(EDA):c.935T>C (p.Ile312Thr) rs1791938725
NM_001399.5(EDA):c.948C>G (p.Asp316Glu)
NM_001399.5(EDA):c.958T>C (p.Tyr320His)
NM_001399.5(EDA):c.958T>G (p.Tyr320Asp) rs1416551006
NM_001399.5(EDA):c.959A>C (p.Tyr320Ser)
NM_001399.5(EDA):c.986T>G (p.Phe329Cys)
NM_001399.5(EDA):c.995G>A (p.Cys332Tyr) rs1602624745
NM_002351.5(SH2D1A):c.197_201+9del rs2060052777
NM_002351.5(SH2D1A):c.201+2T>C rs2147531379
NM_004586.3(RPS6KA3):c.1602+2del rs2148649846
NM_004586.3(RPS6KA3):c.1603-5A>G rs1569194162
NM_004586.3(RPS6KA3):c.840_845+3del
NM_005120.3(MED12):c.100-2A>T
NM_005120.3(MED12):c.4048-1G>A rs2092317530
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr) rs863223696
NM_005120.3(MED12):c.5025+1G>C
NM_005120.3(MED12):c.5400+2T>C rs2147827179
NM_005120.3(MED12):c.6408+1G>A rs2092347488
NM_006950.3(SYN1):c.1158+1G>T
NM_006950.3(SYN1):c.1159-2A>G
NM_006950.3(SYN1):c.1471del (p.Gln491fs) rs2147912333
NM_006950.3(SYN1):c.2028C>T (p.Ala676=) rs2057764630
NM_006950.3(SYN1):c.378-1G>A rs2057900552
NM_006950.3(SYN1):c.528-2A>T rs1556860663
NM_031206.7(LAS1L):c.1243C>T (p.Arg415Trp) rs1057518699
NM_139058.3(ARX):c.1135C>A (p.Arg379Ser) rs1556049714
NM_139058.3(ARX):c.1135C>T (p.Arg379Cys) rs1556049714
NM_139058.3(ARX):c.1600G>C (p.Ala534Pro)
NM_139058.3(ARX):c.1615G>A (p.Ala539Thr) rs2147318633
NM_139058.3(ARX):c.426_449dup (p.Gly143_Ala150dup) rs1569395541

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