ClinVar Miner

List of variants in gene ABCD1 reported as pathogenic for central nervous system disorder

Included ClinVar conditions (2498):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 274
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HGVS dbSNP gnomAD frequency
NM_000033.4(ABCD1):c.1526A>G (p.Asn509Ser) rs782158792 0.00002
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met) rs1569541120 0.00002
NM_000033.4(ABCD1):c.1253G>A (p.Arg418Gln) rs1046633404 0.00001
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln) rs398123102 0.00001
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln) rs781862879 0.00001
NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu) rs128624225 0.00001
NM_000033.4(ABCD1):c.337C>T (p.Arg113Cys) rs1557052306 0.00001
NM_000033.4(ABCD1):c.853C>T (p.Arg285Cys) rs782334088 0.00001
NC_000023.10:g.(?_152990722)_(153009189_?)del
NC_000023.10:g.(?_152991573)_(152995898_?)del
NC_000023.10:g.(?_152994617)_(153006193_?)del
NC_000023.10:g.(?_152996855)_(153006103_?)del
NC_000023.10:g.(?_152999896)_(153005554_?)del
NC_000023.10:g.(?_153001546)_(153002725_?)del
NC_000023.10:g.(?_153001546)_(153009189_?)del
NC_000023.10:g.(?_153001789)_(153009189_?)del
NC_000023.10:g.(?_153002601)_(153002715_?)del
NC_000023.10:g.(?_153005725)_(153006804_?)del
NC_000023.10:g.(?_153008421)_(153009189_?)del
NC_000023.10:g.(?_153008421)_(153009209_?)del
NC_000023.10:g.(?_153008655)_(153009189_?)del
NC_000023.10:g.(?_153008701)_(153011800_?)del
NC_000023.11:g.(?_153736092)_(153743755_?)del
NC_000023.11:g.(?_153736102)_(153743735_?)del
NC_000023.11:g.(?_153736102)_(153743745_?)del
NC_000023.11:g.(?_153740082)_(153740247_?)del
NC_000023.11:g.(?_153742977)_(153743745_?)del
NC_000023.11:g.(?_153743201)_(153743755_?)del
NM_000033.4(ABCD1):c.-16_10del (p.Met1fs) rs387906497
NM_000033.4(ABCD1):c.1002del (p.Leu334_Met335insTer)
NM_000033.4(ABCD1):c.1016G>A (p.Trp339Ter)
NM_000033.4(ABCD1):c.102del (p.Leu35fs) rs2148388645
NM_000033.4(ABCD1):c.1074dup (p.Glu359fs)
NM_000033.4(ABCD1):c.1081+1G>A rs2091727061
NM_000033.4(ABCD1):c.1092_1093insTTTGCAG (p.Val365fs)
NM_000033.4(ABCD1):c.1096A>T (p.Lys366Ter) rs1569541000
NM_000033.4(ABCD1):c.1101_1108dup (p.Leu370fs) rs1603234451
NM_000033.4(ABCD1):c.1126G>T (p.Glu376Ter) rs782266592
NM_000033.4(ABCD1):c.1126del (p.Glu376fs)
NM_000033.4(ABCD1):c.1138G>T (p.Glu380Ter) rs782007706
NM_000033.4(ABCD1):c.1165C>G (p.Arg389Gly) rs128624215
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1172T>C (p.Leu391Pro) rs1557054173
NM_000033.4(ABCD1):c.1172_1175del (p.Leu391fs) rs2091749146
NM_000033.4(ABCD1):c.1201C>T (p.Arg401Trp) rs727503786
NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln) rs128624219
NM_000033.4(ABCD1):c.1219A>T (p.Lys407Ter) rs1603234501
NM_000033.4(ABCD1):c.121dup (p.Ala41fs)
NM_000033.4(ABCD1):c.1222G>T (p.Glu408Ter)
NM_000033.4(ABCD1):c.1224+2T>A
NM_000033.4(ABCD1):c.1224G>A (p.Glu408=) rs2148395507
NM_000033.4(ABCD1):c.1225-7_1239del rs1569541009
NM_000033.4(ABCD1):c.1237G>C (p.Ala413Pro) rs1569541011
NM_000033.4(ABCD1):c.1247C>G (p.Thr416Arg) rs2091749844
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.4(ABCD1):c.1253G>C (p.Arg418Pro)
NM_000033.4(ABCD1):c.1270C>T (p.Gln424Ter) rs1557054210
NM_000033.4(ABCD1):c.1287del (p.Gln430fs)
NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter) rs797044726
NM_000033.4(ABCD1):c.1324_1327dup (p.Ala443fs) rs2148395658
NM_000033.4(ABCD1):c.1359del (p.Gly454fs) rs1603234574
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs) rs193922093
NM_000033.4(ABCD1):c.1382del (p.Leu461fs)
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.4(ABCD1):c.1393+1G>A
NM_000033.4(ABCD1):c.1394-2A>G
NM_000033.4(ABCD1):c.1396C>T (p.Gln466Ter) rs398123100
NM_000033.4(ABCD1):c.1414C>T (p.Gln472Ter) rs2091752744
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.1429G>T (p.Glu477Ter) rs128624222
NM_000033.4(ABCD1):c.1430del (p.Glu477fs) rs2148396057
NM_000033.4(ABCD1):c.1440del (p.Ile481fs) rs1557054318
NM_000033.4(ABCD1):c.1447dup (p.Thr483fs)
NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met) rs1569541035
NM_000033.4(ABCD1):c.1451C>G (p.Pro484Arg) rs128624214
NM_000033.4(ABCD1):c.1454C>G (p.Ser485Ter) rs1603234759
NM_000033.4(ABCD1):c.1457del (p.Gly486fs)
NM_000033.4(ABCD1):c.146_159del (p.Pro49fs) rs1569540676
NM_000033.4(ABCD1):c.1488+1G>A rs2091753176
NM_000033.4(ABCD1):c.1489-1G>A rs1603235263
NM_000033.4(ABCD1):c.1489-2A>G
NM_000033.4(ABCD1):c.1501_1510del (p.Met501fs) rs2148397523
NM_000033.4(ABCD1):c.1520G>A (p.Gly507Asp)
NM_000033.4(ABCD1):c.1529del (p.Gly510fs) rs2091762383
NM_000033.4(ABCD1):c.1530del (p.Cys511fs)
NM_000033.4(ABCD1):c.1531_1536del (p.Cys511_Gly512del) rs2091762396
NM_000033.4(ABCD1):c.1532G>A (p.Cys511Tyr) rs1557054745
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser) rs1569541088
NM_000033.4(ABCD1):c.1544C>T (p.Ser515Phe) rs128624223
NM_000033.4(ABCD1):c.1547T>C (p.Leu516Pro)
NM_000033.4(ABCD1):c.154G>T (p.Glu52Ter) rs2148388737
NM_000033.4(ABCD1):c.1552C>G (p.Arg518Gly) rs128624224
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp) rs128624224
NM_000033.4(ABCD1):c.1552del (p.Arg518fs) rs387906495
NM_000033.4(ABCD1):c.1562del (p.Gly521fs)
NM_000033.4(ABCD1):c.1567C>T (p.Leu523Phe) rs1159943880
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro) rs2091762647
NM_000033.4(ABCD1):c.1615_1616dup (p.Met539fs)
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000033.4(ABCD1):c.1628del (p.Pro543fs) rs1603235321
NM_000033.4(ABCD1):c.1634+1G>A rs1569541096
NM_000033.4(ABCD1):c.1634+1G>C
NM_000033.4(ABCD1):c.1634+1G>T
NM_000033.4(ABCD1):c.1635-1G>A rs1603235389
NM_000033.4(ABCD1):c.1635-2A>G rs1569541109
NM_000033.4(ABCD1):c.1642_1643del (p.Met548fs)
NM_000033.4(ABCD1):c.1657del (p.Leu553fs) rs2148397899
NM_000033.4(ABCD1):c.1660dup (p.Arg554fs) rs1569541115
NM_000033.4(ABCD1):c.1661G>A (p.Arg554His) rs201568579
NM_000033.4(ABCD1):c.1667A>G (p.Gln556Arg)
NM_000033.4(ABCD1):c.1677C>A (p.Tyr559Ter) rs2148397922
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu) rs398123105
NM_000033.4(ABCD1):c.1695del (p.Asp565fs) rs2091764622
NM_000033.4(ABCD1):c.1699C>T (p.Gln567Ter) rs201114595
NM_000033.4(ABCD1):c.16_22delinsCT (p.Arg6fs) rs1557052133
NM_000033.4(ABCD1):c.1713C>G (p.Tyr571Ter)
NM_000033.4(ABCD1):c.1720C>T (p.Gln574Ter) rs2148397954
NM_000033.4(ABCD1):c.1742_1781-968del
NM_000033.4(ABCD1):c.1753del (p.Leu585fs)
NM_000033.4(ABCD1):c.1768C>T (p.Gln590Ter) rs2091765003
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp) rs398123106
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln) rs1557054873
NM_000033.4(ABCD1):c.1780+2T>G rs1557054875
NM_000033.4(ABCD1):c.1780G>C (p.Gly594Arg) rs2148398002
NM_000033.4(ABCD1):c.1784G>A (p.Trp595Ter) rs1603235901
NM_000033.4(ABCD1):c.1785G>A (p.Trp595Ter) rs2148398982
NM_000033.4(ABCD1):c.1792_1793del (p.Met598fs) rs2148398995
NM_000033.4(ABCD1):c.1802G>A (p.Trp601Ter) rs398123107
NM_000033.4(ABCD1):c.1817C>A (p.Ser606Ter) rs128624225
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs) rs1557055253
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys) rs150346282
NM_000033.4(ABCD1):c.1825_1847dup (p.Met618fs) rs2148399034
NM_000033.4(ABCD1):c.1831C>T (p.Gln611Ter)
NM_000033.4(ABCD1):c.1832dup (p.Arg612fs)
NM_000033.4(ABCD1):c.1848_1855dup (p.Phe619fs)
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His) rs11146842
NM_000033.4(ABCD1):c.1853del (p.Met618fs) rs1603235941
NM_000033.4(ABCD1):c.1865+1G>A rs1569541198
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr) rs1557055316
NM_000033.4(ABCD1):c.1877C>T (p.Ala626Val)
NM_000033.4(ABCD1):c.1891T>C (p.Cys631Arg) rs2148399209
NM_000033.4(ABCD1):c.1892G>A (p.Cys631Tyr) rs2091773525
NM_000033.4(ABCD1):c.1895C>T (p.Thr632Ile) rs1064793877
NM_000033.4(ABCD1):c.1899C>G (p.Ser633Arg) rs202125585
NM_000033.4(ABCD1):c.1907G>T (p.Ser636Ile) rs2091773697
NM_000033.4(ABCD1):c.1918G>A (p.Glu640Lys)
NM_000033.4(ABCD1):c.1933del (p.Gln645fs) rs1603236013
NM_000033.4(ABCD1):c.1961T>C (p.Leu654Pro) rs2091774046
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp) rs1569541203
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000033.4(ABCD1):c.1979G>T (p.Arg660Leu) rs1557055340
NM_000033.4(ABCD1):c.1988dup (p.Trp664fs) rs2148399327
NM_000033.4(ABCD1):c.1990dup (p.Trp664fs) rs2148399330
NM_000033.4(ABCD1):c.1991+1G>A
NM_000033.4(ABCD1):c.1991G>A (p.Trp664Ter) rs2091774163
NM_000033.4(ABCD1):c.1998C>A (p.Tyr666Ter) rs1170974058
NM_000033.4(ABCD1):c.1998C>G (p.Tyr666Ter) rs1170974058
NM_000033.4(ABCD1):c.1998_1999insGC (p.His667fs) rs1557055392
NM_000033.4(ABCD1):c.1999C>G (p.His667Asp) rs2091775068
NM_000033.4(ABCD1):c.1A>G (p.Met1Val) rs2091702389
NM_000033.4(ABCD1):c.2006A>G (p.His669Arg) rs2091775127
NM_000033.4(ABCD1):c.2006_2007del (p.His669fs) rs797044625
NM_000033.4(ABCD1):c.2014C>T (p.Gln672Ter)
NM_000033.4(ABCD1):c.2019_2025dup (p.Glu676fs)
NM_000033.4(ABCD1):c.2030dup (p.Gly678fs) rs2148399483
NM_000033.4(ABCD1):c.234_242del (p.Arg80_Leu82del) rs1603231784
NM_000033.4(ABCD1):c.234_242dup (p.Arg80_Leu82dup) rs1603231784
NM_000033.4(ABCD1):c.234_565del (p.Leu79fs)
NM_000033.4(ABCD1):c.241_242dup (p.Leu82fs)
NM_000033.4(ABCD1):c.250C>T (p.Pro84Ser)
NM_000033.4(ABCD1):c.251C>T (p.Pro84Leu)
NM_000033.4(ABCD1):c.253del (p.Arg85fs)
NM_000033.4(ABCD1):c.253dup (p.Arg85fs) rs713993050
NM_000033.4(ABCD1):c.269dup (p.Thr91fs)
NM_000033.4(ABCD1):c.276del (p.Leu93fs)
NM_000033.4(ABCD1):c.290A>C (p.His97Pro) rs2091705296
NM_000033.4(ABCD1):c.290A>G (p.His97Arg) rs2091705296
NM_000033.4(ABCD1):c.293C>A (p.Ser98Ter)
NM_000033.4(ABCD1):c.293C>T (p.Ser98Leu) rs1557052294
NM_000033.4(ABCD1):c.29G>A (p.Trp10Ter) rs2148388538
NM_000033.4(ABCD1):c.30G>A (p.Trp10Ter) rs1304001811
NM_000033.4(ABCD1):c.310C>T (p.Arg104Cys) rs2148388971
NM_000033.4(ABCD1):c.311G>A (p.Arg104His) rs1557052302
NM_000033.4(ABCD1):c.317_320del (p.Phe106fs) rs2148388986
NM_000033.4(ABCD1):c.323C>T (p.Ser108Leu) rs2091705631
NM_000033.4(ABCD1):c.340_360del (p.Leu114_Arg120del) rs2148389007
NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro) rs1603231848
NM_000033.4(ABCD1):c.346G>A (p.Gly116Arg) rs398123110
NM_000033.4(ABCD1):c.346G>C (p.Gly116Arg) rs398123110
NM_000033.4(ABCD1):c.36del (p.Asn13fs) rs1603231653
NM_000033.4(ABCD1):c.36dup (p.Asn13fs) rs1603231653
NM_000033.4(ABCD1):c.3_4delinsTT (p.Met1_Pro2delinsIleSer)
NM_000033.4(ABCD1):c.3dup (p.Pro2fs)
NM_000033.4(ABCD1):c.406C>T (p.Gln136Ter) rs398123111
NM_000033.4(ABCD1):c.408del (p.Gln136fs) rs1603231897
NM_000033.4(ABCD1):c.411G>A (p.Trp137Ter) rs2091706547
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr) rs193922097
NM_000033.4(ABCD1):c.442A>G (p.Asn148Asp) rs1557052362
NM_000033.4(ABCD1):c.443A>G (p.Asn148Ser) rs128624216
NM_000033.4(ABCD1):c.452T>C (p.Ile151Thr) rs1569540692
NM_000033.4(ABCD1):c.454C>G (p.Arg152Gly) rs1569540693
NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys) rs1569540693
NM_000033.4(ABCD1):c.455G>C (p.Arg152Pro) rs1557052367
NM_000033.4(ABCD1):c.456_457del (p.Tyr153fs)
NM_000033.4(ABCD1):c.469C>T (p.Gln157Ter)
NM_000033.4(ABCD1):c.479T>C (p.Leu160Pro) rs2091707324
NM_000033.4(ABCD1):c.482C>A (p.Ser161Ter) rs373957035
NM_000033.4(ABCD1):c.483del (p.Phe162fs) rs2091707458
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys) rs1569540695
NM_000033.4(ABCD1):c.487del (p.Arg163fs)
NM_000033.4(ABCD1):c.498_520del (p.Val167fs) rs398123112
NM_000033.4(ABCD1):c.520T>G (p.Tyr174Asp) rs128624217
NM_000033.4(ABCD1):c.521A>C (p.Tyr174Ser) rs1557052390
NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys) rs1557052390
NM_000033.4(ABCD1):c.522C>G (p.Tyr174Ter) rs2148389350
NM_000033.4(ABCD1):c.524T>A (p.Phe175Tyr) rs1569540700
NM_000033.4(ABCD1):c.524_526del (p.Phe175del) rs2091707872
NM_000033.4(ABCD1):c.529C>T (p.Gln177Ter) rs1057516052
NM_000033.4(ABCD1):c.537_544dup (p.Arg182fs) rs1557052397
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp) rs1131691916
NM_000033.4(ABCD1):c.566G>A (p.Arg189Gln)
NM_000033.4(ABCD1):c.589_590del (p.Leu197fs) rs2148389462
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) rs1569540704
NM_000033.4(ABCD1):c.598G>A (p.Asp200Asn) rs2091708688
NM_000033.4(ABCD1):c.614C>A (p.Ala205Glu) rs398123113
NM_000033.4(ABCD1):c.631C>T (p.Leu211Phe) rs2148389513
NM_000033.4(ABCD1):c.632T>G (p.Leu211Arg) rs2148389516
NM_000033.4(ABCD1):c.644T>C (p.Leu215Pro) rs2148389537
NM_000033.4(ABCD1):c.668_900+291del rs2148389592
NM_000033.4(ABCD1):c.697del (p.Ala233fs) rs2148389670
NM_000033.4(ABCD1):c.70del (p.Leu24fs) rs1557052171
NM_000033.4(ABCD1):c.721_722del (p.Ala241fs)
NM_000033.4(ABCD1):c.723del (p.Trp242fs) rs1603232111
NM_000033.4(ABCD1):c.760A>G (p.Thr254Ala) rs2148389772
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met) rs1131691743
NM_000033.4(ABCD1):c.766_769dup (p.Val257fs) rs1557052530
NM_000033.4(ABCD1):c.785C>G (p.Ser262Trp) rs1204814114
NM_000033.4(ABCD1):c.788_820del (p.Pro263_Ala273del) rs2148389834
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg) rs128624218
NM_000033.4(ABCD1):c.797G>A (p.Gly266Glu) rs2091711094
NM_000033.4(ABCD1):c.823_831del (p.Arg275_Gly277del) rs2091711370
NM_000033.4(ABCD1):c.829G>T (p.Gly277Trp) rs1603232195
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000033.4(ABCD1):c.839G>A (p.Arg280His) rs781904944
NM_000033.4(ABCD1):c.841_853del (p.Tyr281fs)
NM_000033.4(ABCD1):c.847C>G (p.His283Asp) rs782509393
NM_000033.4(ABCD1):c.848A>C (p.His283Pro)
NM_000033.4(ABCD1):c.848A>G (p.His283Arg) rs2148389929
NM_000033.4(ABCD1):c.851C>A (p.Ser284Ter) rs2091711722
NM_000033.4(ABCD1):c.851C>T (p.Ser284Leu) rs2091711722
NM_000033.4(ABCD1):c.855del (p.Val286fs)
NM_000033.4(ABCD1):c.869C>G (p.Ser290Trp)
NM_000033.4(ABCD1):c.871G>A (p.Glu291Lys) rs128624213
NM_000033.4(ABCD1):c.871GAG[1] (p.Glu292del) rs387906496
NM_000033.4(ABCD1):c.872A>C (p.Glu291Ala)
NM_000033.4(ABCD1):c.876G>C (p.Glu292Asp) rs1557052573
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000033.4(ABCD1):c.886_887delinsAG (p.Tyr296Ser) rs2148389994
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys) rs797044610
NM_000033.4(ABCD1):c.893dup (p.His299fs)
NM_000033.4(ABCD1):c.900G>A (p.Glu300=) rs1569540743
NM_000033.4(ABCD1):c.901-1G>A rs2148391908
NM_000033.4(ABCD1):c.901-2A>C rs2148391907
NM_000033.4(ABCD1):c.901-2A>G rs2148391907
NM_000033.4(ABCD1):c.904G>A (p.Glu302Lys)
NM_000033.4(ABCD1):c.919C>T (p.Gln307Ter) rs1603233089
NM_000033.4(ABCD1):c.931C>T (p.Gln311Ter) rs941503814
NM_000033.4(ABCD1):c.965T>C (p.Leu322Pro) rs2148391974
NM_000033.4(ABCD1):c.970C>T (p.Arg324Cys)
NM_000033.4(ABCD1):c.991G>A (p.Glu331Lys)
NM_000033.4(ABCD1):c.994C>T (p.Gln332Ter) rs2091726671
NM_000033.4(ABCD1):c.99C>A (p.Tyr33Ter)

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