ClinVar Miner

List of variants reported as likely pathogenic for Niemann-Pick disease, type A

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Total variants: 62
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HGVS dbSNP
NM_000543.4(SMPD1):c.1426C>T rs182812968
NM_000543.4:c.777_778ins8
NM_000543.5(SMPD1):c.1092-1G>C rs398123474
NM_000543.5(SMPD1):c.1101dup (p.Phe368fs) rs1422720020
NM_000543.5(SMPD1):c.1109_1110CT[1] (p.Leu371fs) rs786204514
NM_000543.5(SMPD1):c.1139_1140TC[3] (p.Leu382fs) rs1057516432
NM_000543.5(SMPD1):c.114del (p.Leu39fs) rs886043098
NM_000543.5(SMPD1):c.1264-1G>T rs1057516454
NM_000543.5(SMPD1):c.1276G>A (p.Gly426Ser) rs1554935136
NM_000543.5(SMPD1):c.1299_1302del (p.His432_Cys433insTer) rs1057517390
NM_000543.5(SMPD1):c.1341-10_1429dup rs1554935254
NM_000543.5(SMPD1):c.1341-1G>A rs1057516854
NM_000543.5(SMPD1):c.1341-1G>T rs1057516854
NM_000543.5(SMPD1):c.1373del (p.Gly458fs) rs1554935273
NM_000543.5(SMPD1):c.1379del (p.Thr460fs) rs1554935285
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) rs753508874
NM_000543.5(SMPD1):c.1491C>G (p.Tyr497Ter) rs1554935439
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys) rs769904764
NM_000543.5(SMPD1):c.1493_1494GT[2] (p.Tyr500fs) rs1057517200
NM_000543.5(SMPD1):c.1518C>G (p.Tyr506Ter) rs943924098
NM_000543.5(SMPD1):c.151_154del (p.Asp51fs) rs1057516949
NM_000543.5(SMPD1):c.1603T>C (p.Trp535Arg) rs1554935555
NM_000543.5(SMPD1):c.1627G>T (p.Glu543Ter) rs756031857
NM_000543.5(SMPD1):c.1644delinsAA (p.Asn549fs) rs1554935600
NM_000543.5(SMPD1):c.1665G>A (p.Trp555Ter) rs1554935610
NM_000543.5(SMPD1):c.168G>A (p.Trp56Ter) rs1057516722
NM_000543.5(SMPD1):c.1748C>A (p.Ser583Ter) rs373940701
NM_000543.5(SMPD1):c.1781_1782CT[1] (p.Ala597fs) rs1437508852
NM_000543.5(SMPD1):c.1785_1786del (p.Ala597fs) rs1057516403
NM_000543.5(SMPD1):c.1805G>A (p.Arg602His) rs370129081
NM_000543.5(SMPD1):c.1817del (p.Pro606fs) rs1554935746
NM_000543.5(SMPD1):c.193del (p.Ser65fs) rs1057517098
NM_000543.5(SMPD1):c.199C>T (p.Gln67Ter) rs1057516931
NM_000543.5(SMPD1):c.241C>T (p.Arg81Ter) rs868423827
NM_000543.5(SMPD1):c.28C>T (p.Gln10Ter) rs1205990349
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro) rs751269562
NM_000543.5(SMPD1):c.318+2T>A rs1225462507
NM_000543.5(SMPD1):c.318+2T>C rs1225462507
NM_000543.5(SMPD1):c.354del (p.Ile119fs) rs727504165
NM_000543.5(SMPD1):c.419_420del (p.Leu139_Phe140insTer) rs1057517086
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg) rs727504166
NM_000543.5(SMPD1):c.518dup (p.Ser174fs) rs786204733
NM_000543.5(SMPD1):c.528G>A (p.Trp176Ter) rs1554934212
NM_000543.5(SMPD1):c.528del (p.Ser175_Trp176insTer) rs1554934210
NM_000543.5(SMPD1):c.52G>T (p.Glu18Ter) rs1428487333
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs) rs786204694
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu) rs1057517195
NM_000543.5(SMPD1):c.56del (p.Gln19fs) rs1554933746
NM_000543.5(SMPD1):c.581del (p.Pro194fs) rs748165078
NM_000543.5(SMPD1):c.581dup (p.Ala195fs) rs748165078
NM_000543.5(SMPD1):c.614_647del (p.Phe205fs) rs1554934309
NM_000543.5(SMPD1):c.61C>T (p.Gln21Ter) rs1554933751
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys) rs989639224
NM_000543.5(SMPD1):c.730G>T (p.Gly244Ter) rs120074122
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser) rs587779408
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg) rs750779804
NM_000543.5(SMPD1):c.750C>A (p.Ser250Arg) rs1423504237
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) rs398123479
NM_000543.5(SMPD1):c.778G>T (p.Glu260Ter) rs1554934406
NM_000543.5(SMPD1):c.95G>A (p.Trp32Ter) rs1554933780
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter) rs786204506
NM_000543.5(SMPD1):c.994_995delinsG (p.Pro332fs) rs1057517345

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