SMPD1 — 1086 ClinVar variants

Pathogenic 117

• c.1092-1G>C Multiple submitters Niemann-Pick disease type B
• p.Ala283Thr Multiple submitters Niemann-Pick disease type A ⚠
• p.Ala597fs Multiple submitters Niemann-Pick disease type A
• p.Arg3fs Multiple submitters Niemann-Pick disease
• p.Arg418Ter Multiple submitters Niemann-Pick disease type B
• p.Arg443Ter Multiple submitters Niemann-Pick disease type A
• p.Arg476Trp Multiple submitters Niemann-Pick disease type A ⚠
• p.Arg498Leu Multiple submitters SMPD1-related disorder
• p.Arg542Ter Multiple submitters SMPD1-related disorder
• p.Arg602His Multiple submitters Niemann-Pick disease type B ⚠
• p.Arg610del Multiple submitters autosomal recessive SMPD1-related disorders
• p.Asn522Ser Multiple submitters Niemann-Pick disease type A ⚠
• p.Asp280Ala Multiple submitters Niemann-Pick disease type A
• p.Gln21Ter Multiple submitters Niemann-Pick disease type A
• p.Gln294Lys Multiple submitters SMPD1-related disorder
• p.Glu248Ter Multiple submitters acid sphingomyelinase deficiency
• p.Gly244Ter Multiple submitters Niemann-Pick disease
• p.Gly247fs Multiple submitters Niemann-Pick disease type B
• p.Gly247Ser Multiple submitters Niemann-Pick disease type A ⚠
• p.His284fs Multiple submitters Niemann-Pick disease type A
• p.His423Tyr Multiple submitters SMPD1-related disorder
• p.His461fs Multiple submitters Niemann-Pick disease type B
• p.Leu180fs Multiple submitters Niemann-Pick disease type B
• p.Leu262fs Multiple submitters Niemann-Pick disease type A
• p.Leu263Ter Multiple submitters Niemann-Pick disease
• p.Leu371fs Multiple submitters Niemann-Pick disease type B
• p.Leu474fs Multiple submitters Niemann-Pick disease type A
• p.Phe333fs Multiple submitters acid sphingomyelinase deficiency
• p.Pro194fs Multiple submitters Niemann-Pick disease type B
• p.Ser192fs Multiple submitters Niemann-Pick disease type A
• p.Ser486Arg Multiple submitters Niemann-Pick disease type A
• p.Thr544fs Multiple submitters Niemann-Pick disease type B
• p.Trp170Ter Multiple submitters Niemann-Pick disease type B
• p.Trp32Ter Multiple submitters Niemann-Pick disease type B
• p.Trp393Gly Multiple submitters Niemann-Pick disease type A
• p.Tyr374Ter Multiple submitters Niemann-Pick disease type A
• c.1486+1G>T Single submitter Niemann-Pick disease type A
• c.1486+5G>A Single submitter
• c.1487-4_1499del Single submitter Niemann-Pick disease type B
• c.318+1G>C Single submitter
• p.Ala224fs Single submitter Niemann-Pick disease type A
• p.Ala359Asp Single submitter Niemann-Pick disease type B
• p.Ala484Val Single submitter Niemann-Pick disease type A
• p.Ala526fs Single submitter Niemann-Pick disease type A
• p.Arg240fs Single submitter Niemann-Pick disease type B
• p.Arg389fs Single submitter Niemann-Pick disease type A
• p.Asn337fs Single submitter Niemann-Pick disease type A
• p.Asn450fs Single submitter Niemann-Pick disease type A
• p.Asn549fs Single submitter Niemann-Pick disease type A
• p.Asn88fs Single submitter Niemann-Pick disease type B
• p.Cys167fs Single submitter Niemann-Pick disease type A
• p.Cys223Tyr Single submitter acid sphingomyelinase deficiency
• p.Cys596Ter Single submitter Niemann-Pick disease type A
• p.Cys609fs Single submitter Niemann-Pick disease type B
• p.Gln21fs Single submitter Niemann-Pick disease type A
• p.Gln406Ter Single submitter Niemann-Pick disease type B
• p.Gln567Ter Single submitter Niemann-Pick disease type A
• p.Gln598Ter Single submitter Niemann-Pick disease type A
• p.Gln67fs Single submitter Niemann-Pick disease type A
• p.Glu18Ter Single submitter Niemann-Pick disease type A
• p.Glu248Gln Single submitter Niemann-Pick disease type A ⚠
• p.Glu352fs Single submitter Niemann-Pick disease type A
• p.Glu358fs Single submitter Niemann-Pick disease type A
• p.Glu390Ter Single submitter Niemann-Pick disease type B
• p.Glu464Ter Single submitter acid sphingomyelinase deficiency
• p.Gly270fs Single submitter Niemann-Pick disease type A
• p.Gly530fs Single submitter Niemann-Pick disease type A
• p.Gly68fs Single submitter Niemann-Pick disease type A
• p.His169fs Single submitter Niemann-Pick disease type A
• p.His432fs Single submitter Niemann-Pick disease type A
• p.His511fs Single submitter
• p.Ile101fs Single submitter Niemann-Pick disease type B
• p.Ile424fs Single submitter Niemann-Pick disease type A
• p.Ile444Asn Single submitter Niemann-Pick disease type A
• p.Leu124fs Single submitter Niemann-Pick disease type B
• p.Leu162fs Single submitter Niemann-Pick disease type A
• p.Leu216Arg Single submitter Niemann-Pick disease type A ⚠
• p.Leu256fs Single submitter Niemann-Pick disease type A
• p.Leu35fs Single submitter Niemann-Pick disease type B
• p.Leu39fs Single submitter Niemann-Pick disease type A
• p.Leu452fs Single submitter Niemann-Pick disease type B
• p.Lys307fs Single submitter Niemann-Pick disease type B
• p.Lys307Ter Single submitter Niemann-Pick disease type B
• p.Lys435fs Single submitter Niemann-Pick disease
• p.Met274fs Single submitter Niemann-Pick disease type B
• p.Met384fs Single submitter Niemann-Pick disease type A
• p.Phe482fs Single submitter
• p.Pro187fs Single submitter
• p.Pro191_Ser192insTer Single submitter Niemann-Pick disease type A
• p.Pro606fs Single submitter Niemann-Pick disease type A
• p.Pro70fs Single submitter Niemann-Pick disease type B
• p.Ser436fs Single submitter Niemann-Pick disease type B
• p.Ser438fs Single submitter Niemann-Pick disease type B
• p.Ser65fs Single submitter Niemann-Pick disease type B
• p.Trp211Ter Single submitter Niemann-Pick disease type A
• p.Trp277Ter Single submitter Niemann-Pick disease type B
• p.Trp393Ter Single submitter Niemann-Pick disease type A
• p.Trp407Ter Single submitter Niemann-Pick disease type A
• p.Trp437Ter Single submitter Niemann-Pick disease type B
• p.Trp439Ter Single submitter Niemann-Pick disease type B
• p.Trp535Ter Single submitter Niemann-Pick disease type A
• p.Trp86Ter Single submitter Niemann-Pick disease type A
• p.Tyr245_Gly247delinsCys Single submitter Niemann-Pick disease type A
• p.Tyr315Ter Single submitter Niemann-Pick disease type A
• p.Tyr344Ter Single submitter Niemann-Pick disease type B
• p.Tyr519Ter Single submitter Niemann-Pick disease type B
• p.Val312fs Single submitter Niemann-Pick disease type A
• p.Val409fs Single submitter Niemann-Pick disease type B
• p.Val559Glu Single submitter Niemann-Pick disease type A
• p.Val83fs Single submitter Niemann-Pick disease type A
• p.Gly496_Tyr497insTer No assertion criteria Niemann-Pick disease type A
• p.Leu266fs No assertion criteria Niemann-Pick disease type A
• p.Lys189fs No assertion criteria Niemann-Pick disease type A
• p.Ser175fs No assertion criteria Niemann-Pick disease type A
• p.Ser438Arg No assertion criteria Niemann-Pick disease type B
• p.Tyr500Asn No assertion criteria Niemann-Pick disease type A
• p.Val318Met No assertion criteria Niemann-Pick disease type A ⚠

Pathogenic/Likely pathogenic 73

• c.1091+1G>A Multiple submitters Niemann-Pick disease type A
• c.1264-1G>A Multiple submitters Niemann-Pick disease type B
• c.1264-1G>C Multiple submitters Niemann-Pick disease type A
• c.1340+2T>C Multiple submitters Niemann-Pick disease type B
• c.1340+2T>G Multiple submitters Niemann-Pick disease type B
• c.1341-1G>A Multiple submitters Niemann-Pick disease type B
• p.Ala370fs Multiple submitters Niemann-Pick disease type B
• p.Ala484Glu Multiple submitters Niemann-Pick disease type A
• p.Ala59fs Multiple submitters Niemann-Pick disease type A
• p.Arg14fs Multiple submitters Niemann-Pick disease type B
• p.Arg230Cys Multiple submitters Niemann-Pick disease type B
• p.Arg498Cys Multiple submitters Niemann-Pick disease type A
• p.Arg498His Multiple submitters Niemann-Pick disease type B
• p.Arg602Pro Multiple submitters Niemann-Pick disease type B
• p.Arg81Ter Multiple submitters Niemann-Pick disease type B
• p.Asn383Ser Multiple submitters Niemann-Pick disease
• p.Asn391His Multiple submitters Niemann-Pick disease type A
• p.Asp253Glu Multiple submitters Niemann-Pick disease type B
• p.Asp253His Multiple submitters SMPD1-related disorder
• p.Asp51fs Multiple submitters Niemann-Pick disease type B
• p.Cys159Arg Multiple submitters Niemann-Pick disease type B
• p.Cys223Ser Multiple submitters Niemann-Pick disease type B
• p.Cys228Arg Multiple submitters Niemann-Pick disease type A
• p.Gln19fs Multiple submitters Niemann-Pick disease type B
• p.Gln455Ter Multiple submitters Niemann-Pick disease type A
• p.Gln536Ter Multiple submitters Niemann-Pick disease type A
• p.Glu352Ter Multiple submitters Niemann-Pick disease
• p.Gly168Arg Multiple submitters Niemann-Pick disease type B
• p.Gly197fs Multiple submitters Niemann-Pick disease type B
• p.Gly244Arg Multiple submitters Niemann-Pick disease type A
• p.Gly247Asp Multiple submitters Niemann-Pick disease
• p.Gly319Arg Multiple submitters Niemann-Pick disease type B
• p.Gly426Ser Multiple submitters Niemann-Pick disease type B
• p.Gly579Ser Multiple submitters Niemann-Pick disease ⚠
• p.His423Arg Multiple submitters Niemann-Pick disease
• p.His427Arg Multiple submitters Niemann-Pick disease
• p.His577Arg Multiple submitters Niemann-Pick disease type B ⚠
• p.Ile119fs Multiple submitters Niemann-Pick disease type B
• p.Ile528fs Multiple submitters Niemann-Pick disease type A
• p.Leu105Pro Multiple submitters Niemann-Pick disease type A
• p.Leu139Pro Multiple submitters Niemann-Pick disease type B
• p.Leu163Pro Multiple submitters Niemann-Pick disease type A
• p.Leu209fs Multiple submitters Niemann-Pick disease type A
• p.Leu216fs Multiple submitters Niemann-Pick disease type A
• p.Leu227Pro Multiple submitters Niemann-Pick disease type A
• p.Leu304Pro Multiple submitters Niemann-Pick disease type A
• p.Leu363Arg Multiple submitters Niemann-Pick disease type B
• p.Leu382fs Multiple submitters Niemann-Pick disease type B
• p.Leu382Phe Multiple submitters Niemann-Pick disease type A
• p.Leu558Pro Multiple submitters Niemann-Pick disease
• p.Met384Ile Multiple submitters Niemann-Pick disease
• p.Phe368fs Multiple submitters Niemann-Pick disease type A
• p.Phe465Ser Multiple submitters Niemann-Pick disease type A
• p.Pro186Leu Multiple submitters Niemann-Pick disease type B ⚠
• p.Pro191fs Multiple submitters Niemann-Pick disease type A
• p.Pro325Ala Multiple submitters Niemann-Pick disease type A
• p.Pro373fs Multiple submitters acid sphingomyelinase deficiency
• p.Pro373Ser Multiple submitters Niemann-Pick disease type A ⚠
• p.Pro477Leu Multiple submitters SMPD1-related disorder
• p.Pro533Gln Multiple submitters Niemann-Pick disease type A
• p.Ser15fs Multiple submitters Niemann-Pick disease type A
• p.Ser174fs Multiple submitters Niemann-Pick disease type B
• p.Ser250Arg Multiple submitters Niemann-Pick disease type B ⚠
• p.Ser381Pro Multiple submitters Niemann-Pick disease type A
• p.Ser507fs Multiple submitters Niemann-Pick disease type A
• p.Ser50fs Multiple submitters Niemann-Pick disease type B
• p.Trp342Ter Multiple submitters Niemann-Pick disease type B
• p.Trp56Ter Multiple submitters Niemann-Pick disease type A
• p.Tyr448Cys Multiple submitters Niemann-Pick disease type B
• p.Tyr469Cys Multiple submitters Niemann-Pick disease
• p.Tyr469Ser Multiple submitters Niemann-Pick disease type B
• p.Val200fs Multiple submitters Niemann-Pick disease type A
• p.Val559fs Multiple submitters acid sphingomyelinase deficiency

Likely pathogenic 160

• c.1263+1G>A Multiple submitters Niemann-Pick disease type A
• c.1264-1G>T Multiple submitters Niemann-Pick disease type B
• c.1264-2A>G Multiple submitters Niemann-Pick disease type A
• c.1341-21_1341-18del Multiple submitters Niemann-Pick disease type A
• c.318+2T>C Multiple submitters Niemann-Pick disease type A
• c.319-1G>A Multiple submitters Niemann-Pick disease type A
• c.319-2A>G Multiple submitters Niemann-Pick disease type B
• p.Ala601Thr Multiple submitters Niemann-Pick disease type A
• p.Arg447Lys Multiple submitters Niemann-Pick disease type B
• p.Arg591fs Multiple submitters Niemann-Pick disease type A
• p.Arg602Cys Multiple submitters Niemann-Pick disease type A
• p.Asn385Ile Multiple submitters Niemann-Pick disease type A
• p.Asn385Ser Multiple submitters Niemann-Pick disease
• p.Asp503Val Multiple submitters Niemann-Pick disease type B
• p.Cys223Gly Multiple submitters Niemann-Pick disease type A
• p.Cys433Arg Multiple submitters Niemann-Pick disease type B
• p.Gly319Ser Multiple submitters Niemann-Pick disease type A
• p.His577Leu Multiple submitters Niemann-Pick disease type A
• p.Leu121Pro Multiple submitters Niemann-Pick disease type A
• p.Leu521Arg Multiple submitters Niemann-Pick disease type A
• p.Leu595Val Multiple submitters Niemann-Pick disease type A ⚠
• p.Phe465Leu Multiple submitters Niemann-Pick disease type A
• p.Phe572Leu Multiple submitters Niemann-Pick disease ⚠
• p.Pro477Thr Multiple submitters Niemann-Pick disease type A
• p.Trp211Arg Multiple submitters Niemann-Pick disease
• p.Trp246Cys Multiple submitters Niemann-Pick disease type A
• p.Trp342Cys Multiple submitters Niemann-Pick disease type B
• p.Tyr4fs Multiple submitters Niemann-Pick disease type A
• p.Val314Ala Multiple submitters Niemann-Pick disease type A
• c.1092-1G>A Single submitter acid sphingomyelinase deficiency
• c.1092-2A>T Single submitter Niemann-Pick disease type A
• c.1264-2A>T Single submitter Niemann-Pick disease type A
• c.1340+1G>A Single submitter Niemann-Pick disease type A
• c.1340+2_1340+9del Single submitter Niemann-Pick disease type B
• c.1341-10_1429dup Single submitter Niemann-Pick disease type A
• c.1341-1G>T Single submitter Niemann-Pick disease
• c.1487-1G>A Single submitter Niemann-Pick disease type A
• p.Ala131fs Single submitter Niemann-Pick disease type A
• p.Ala195fs Single submitter Niemann-Pick disease type A
• p.Ala198Asp Single submitter Niemann-Pick disease type B ⚠
• p.Ala283fs Single submitter Niemann-Pick disease type A
• p.Ala317fs Single submitter Niemann-Pick disease type A
• p.Ala359Val Single submitter Niemann-Pick disease type B ⚠
• p.Ala44fs Single submitter Niemann-Pick disease type A
• p.Ala453Asp Single submitter Niemann-Pick disease type B
• p.Ala454Asp Single submitter Niemann-Pick disease type A
• p.Ala481fs Single submitter Niemann-Pick disease type A
• p.Ala593fs Single submitter Niemann-Pick disease type A
• p.Ala601Val Single submitter ⚠
• p.Arg150fs Single submitter acid sphingomyelinase deficiency
• p.Arg230Ser Single submitter Niemann-Pick disease type A
• p.Arg364Gly Single submitter Niemann-Pick disease type A ⚠
• p.Arg364Lys Single submitter Niemann-Pick disease type A ⚠
• p.Arg389= Single submitter Niemann-Pick disease type B
• p.Arg476Gly Single submitter Niemann-Pick disease type A
• p.Arg498Pro Single submitter Niemann-Pick disease type B
• p.Arg498Ser Single submitter Niemann-Pick disease type B
• p.Arg53fs Single submitter Niemann-Pick disease type A
• p.Arg602fs Single submitter Niemann-Pick disease type B
• p.Asn327fs Single submitter Niemann-Pick disease type A
• p.Asn494Ile Single submitter Niemann-Pick disease type A
• p.Asn494Lys Single submitter Niemann-Pick disease type A
• p.Asp212His Single submitter Niemann-Pick disease type A
• p.Asp280Glu Single submitter Niemann-Pick disease type B
• p.Asp515fs Single submitter Niemann-Pick disease type A
• p.Asp565Tyr Single submitter Niemann-Pick disease type A
• p.Cys159Tyr Single submitter Niemann-Pick disease type A
• p.Cys228Gly Single submitter Niemann-Pick disease type A
• p.Cys252Arg Single submitter Niemann-Pick disease type A ⚠
• p.Cys596Arg Single submitter Niemann-Pick disease type A
• p.Cys91Tyr Single submitter Niemann-Pick disease type B
• p.Gln10fs Single submitter Niemann-Pick disease type A
• p.Gln292Ter Single submitter Niemann-Pick disease type A
• p.Gln294Arg Single submitter Niemann-Pick disease type A
• p.Gln570fs Single submitter Niemann-Pick disease type A
• p.Glu141fs Single submitter Niemann-Pick disease type A
• p.Glu146fs Single submitter Niemann-Pick disease type A
• p.Glu157Lys Single submitter Niemann-Pick disease type A ⚠
• p.Glu217Ter Single submitter
• p.Glu260Ter Single submitter Niemann-Pick disease type A
• p.Glu411Asp Single submitter Niemann-Pick disease type A
• p.Gly164Val Single submitter Niemann-Pick disease type B
• p.Gly242Asp Single submitter Niemann-Pick disease type B ⚠
• p.Gly244Glu Single submitter Niemann-Pick disease type A
• p.Gly279fs Single submitter Niemann-Pick disease type A
• p.Gly579Asp Single submitter Niemann-Pick disease type A ⚠
• p.Gly579Val Single submitter Niemann-Pick disease type B ⚠
• p.His284Arg Single submitter
• p.His321fs Single submitter Niemann-Pick disease type A
• p.His321Tyr Single submitter Niemann-Pick disease type A
• p.His427Asn Single submitter Niemann-Pick disease type B
• p.His427fs Single submitter Niemann-Pick disease type A
• p.His427Tyr Single submitter Niemann-Pick disease type A
• p.His459Arg Single submitter Niemann-Pick disease type A
• p.His459Tyr Single submitter Niemann-Pick disease type A
• p.Ile334Thr Single submitter Niemann-Pick disease type A ⚠
• p.Leu204His Single submitter Niemann-Pick disease type A
• p.Leu204Ile Single submitter Niemann-Pick disease type B ⚠
• p.Leu227Val Single submitter Niemann-Pick disease type A ⚠
• p.Leu304Val Single submitter Niemann-Pick disease type A ⚠
• p.Leu343Arg Single submitter
• p.Leu371Pro Single submitter Niemann-Pick disease type A
• p.Leu382Val Single submitter Niemann-Pick disease type B ⚠
• p.Leu41fs Single submitter Niemann-Pick disease type A
• p.Leu478fs Single submitter Niemann-Pick disease type A
• p.Leu547fs Single submitter Niemann-Pick disease type A
• p.Leu608fs Single submitter Niemann-Pick disease type A
• p.Leu97Pro Single submitter Niemann-Pick disease type A
• p.Lys189Ter Single submitter Niemann-Pick disease type A
• p.Pro155Arg Single submitter Niemann-Pick disease type A
• p.Pro199fs Single submitter Niemann-Pick disease type A
• p.Pro241fs Single submitter acid sphingomyelinase deficiency
• p.Pro255_Leu256insTer Single submitter Niemann-Pick disease
• p.Pro313delinsLeuValGlyGlnHisGly Single submitter Niemann-Pick disease type A
• p.Pro332Ser Single submitter Niemann-Pick disease type B ⚠
• p.Pro429Leu Single submitter Niemann-Pick disease type A
• p.Pro430Leu Single submitter Niemann-Pick disease type A
• p.Pro430Ser Single submitter Niemann-Pick disease type B
• p.Pro628fs Single submitter Niemann-Pick disease type A
• p.Ser151fs Single submitter acid sphingomyelinase deficiency
• p.Ser250Asn Single submitter Niemann-Pick disease type A ⚠
• p.Ser381Phe Single submitter Niemann-Pick disease type A
• p.Ser486Asn Single submitter Niemann-Pick disease type B
• p.Thr207Asn Single submitter Niemann-Pick disease type A
• p.Thr290fs Single submitter Niemann-Pick disease type A
• p.Thr300_Thr302del Single submitter acid sphingomyelinase deficiency
• p.Thr460fs Single submitter Niemann-Pick disease type A
• p.Thr488Ala Single submitter Niemann-Pick disease
• p.Thr553fs Single submitter Niemann-Pick disease type A
• p.Thr99fs Single submitter acid sphingomyelinase deficiency
• p.Trp148fs Single submitter Niemann-Pick disease type A
• p.Trp176Ter Single submitter Niemann-Pick disease type A
• p.Trp211Cys Single submitter Niemann-Pick disease type B ⚠
• p.Trp246Ter Single submitter Niemann-Pick disease type A
• p.Trp287Ter Single submitter Niemann-Pick disease type A
• p.Trp535Arg Single submitter Niemann-Pick disease type A
• p.Trp535Leu Single submitter Niemann-Pick disease type B
• p.Trp56fs Single submitter acid sphingomyelinase deficiency
• p.Trp573Ter Single submitter Niemann-Pick disease type A
• p.Tyr245Ter Single submitter Niemann-Pick disease type A
• p.Tyr369His Single submitter Niemann-Pick disease type A
• p.Tyr497Ter Single submitter Niemann-Pick disease type A
• p.Tyr500fs Single submitter Niemann-Pick disease type B
• p.Tyr500Ter Single submitter Niemann-Pick disease type A
• p.Tyr506Ter Single submitter Niemann-Pick disease type A
• p.Tyr539Cys Single submitter Niemann-Pick disease type A
• p.Val152fs Single submitter acid sphingomyelinase deficiency
• p.Val36fs Single submitter Niemann-Pick disease
• c.318+2T>A No assertion criteria Niemann-Pick disease type A
• c.777_778ins8 No assertion criteria Niemann-Pick disease type A
• p.Gln67Ter No assertion criteria Niemann-Pick disease type A
• p.Glu543Ter No assertion criteria Niemann-Pick disease type A
• p.Gly458fs No assertion criteria Niemann-Pick disease type A
• p.His432_Cys433insTer No assertion criteria Niemann-Pick disease type A
• p.Leu139_Phe140insTer No assertion criteria Niemann-Pick disease type A
• p.Phe205fs No assertion criteria Niemann-Pick disease type A
• p.Pro332fs No assertion criteria Niemann-Pick disease type A
• p.Ser175_Trp176insTer No assertion criteria Niemann-Pick disease type A
• p.Ser583Ter No assertion criteria Niemann-Pick disease type A
• p.Trp555Ter No assertion criteria Niemann-Pick disease type A

Conflicting classifications of pathogenicity 105

• c.1091+10G>A Single submitter Niemann-Pick disease type A
• c.1091+9C>T Single submitter Niemann-Pick disease
• c.1264-5A>G Single submitter Inborn genetic diseases
• c.1340+12A>T Single submitter Niemann-Pick disease type B
• c.1340+8G>A Single submitter Niemann-Pick disease type B
• c.1341-9T>C Single submitter Niemann-Pick disease type A
• c.1486+5G>C Single submitter Niemann-Pick disease type B
• c.319-17C>A Single submitter Niemann-Pick disease type A
• c.319-5T>C Single submitter Niemann-Pick disease type A
• p.38AL[4] Single submitter Niemann-Pick disease type B
• p.38AL[7] Single submitter Niemann-Pick disease type B
• p.38AL[8] Single submitter Niemann-Pick disease type A
• p.Ala198Pro Single submitter Niemann-Pick disease type B ⚠
• p.Ala243= Single submitter Inborn genetic diseases
• p.Ala25= Single submitter Niemann-Pick disease type B
• p.Ala303= Single submitter Niemann-Pick disease type A
• p.Ala348= Single submitter Inborn genetic diseases
• p.Ala454Val Single submitter Niemann-Pick disease type B ⚠
• p.Ala607= Single submitter Niemann-Pick disease type B
• p.Arg113Cys Single submitter Inborn genetic diseases ⚠
• p.Arg113His Single submitter Niemann-Pick disease type B ⚠
• p.Arg202His Single submitter Niemann-Pick disease type A ⚠
• p.Arg230His Single submitter Niemann-Pick disease type A ⚠
• p.Arg291His Single submitter Inborn genetic diseases ⚠
• p.Arg378Cys Single submitter lysosomal storage disease ⚠
• p.Arg378His Single submitter Niemann-Pick disease ⚠
• p.Arg378Ser Single submitter Niemann-Pick disease type B ⚠
• p.Arg3His Single submitter SMPD1-related disorder ⚠
• p.Arg418Gln Single submitter Niemann-Pick disease type B ⚠
• p.Arg476Gln Single submitter Niemann-Pick disease type A ⚠
• p.Arg540= Single submitter Niemann-Pick disease type B
• p.Arg610Cys Single submitter Niemann-Pick disease type B ⚠
• p.Arg610His Single submitter Niemann-Pick disease type B ⚠
• p.Arg79Gln Single submitter Niemann-Pick disease type A ⚠
• p.Asn110Ser Single submitter Niemann-Pick disease type A ⚠
• p.Asn320Asp Single submitter Niemann-Pick disease type B ⚠
• p.Asn397= Single submitter Niemann-Pick disease type A
• p.Asp22= Single submitter Niemann-Pick disease type B
• p.Asp51Val Single submitter Niemann-Pick disease type B ⚠
• p.Cys433Trp Single submitter Niemann-Pick disease type A ⚠
• p.Gln536= Single submitter Niemann-Pick disease type B
• p.Glu248Lys Single submitter Niemann-Pick disease type A ⚠
• p.Glu517Val Single submitter Niemann-Pick disease type A ⚠
• p.Gly244Ala Single submitter Niemann-Pick disease type B ⚠
• p.Gly270Ser Single submitter Niemann-Pick disease type B ⚠
• p.Gly34= Single submitter Niemann-Pick disease type B
• p.Gly492Ser Single submitter Inborn genetic diseases ⚠
• p.Gly530Ala Single submitter Niemann-Pick disease type A ⚠
• p.Gly564= Single submitter Inborn genetic diseases
• p.His427Leu Single submitter Niemann-Pick disease type A ⚠
• p.His516Arg Single submitter SMPD1-related disorder ⚠
• p.His516Gln Single submitter Niemann-Pick disease type B ⚠
• p.His516Leu Single submitter Niemann-Pick disease type B ⚠
• p.His516Tyr Single submitter Niemann-Pick disease type A ⚠
• p.Ile178Asn Single submitter Niemann-Pick disease type A ⚠
• p.Ile532Thr Single submitter Inborn genetic diseases ⚠
• p.Leu125= Single submitter Inborn genetic diseases
• p.Leu254= Single submitter Inborn genetic diseases
• p.Leu256Pro Single submitter Niemann-Pick disease type A ⚠
• p.Leu266Pro Single submitter Niemann-Pick disease type A ⚠
• p.Leu298Pro Single submitter Niemann-Pick disease type A ⚠
• p.Leu30= Single submitter Niemann-Pick disease type B
• p.Leu304Phe Single submitter Niemann-Pick disease type A ⚠
• p.Leu35_Val36insAlaLeu Single submitter Niemann-Pick disease type B
• p.Leu35_Val36insAlaLeuAlaLeu Single submitter intellectual disability
• p.Leu35Val Single submitter Inborn genetic diseases ⚠
• p.Leu97= Single submitter Inborn genetic diseases
• p.Lys189= Single submitter Niemann-Pick disease type B
• p.Lys251= Single submitter Niemann-Pick disease type A
• p.Pro184Leu Single submitter Niemann-Pick disease type A ⚠
• p.Pro186= Single submitter Inborn genetic diseases
• p.Pro325Ser Single submitter Niemann-Pick disease type B ⚠
• p.Pro332Ala Single submitter Niemann-Pick disease type A ⚠
• p.Pro332Arg Single submitter SMPD1-related disorder ⚠
• p.Pro332His Single submitter SMPD1-related disorder ⚠
• p.Pro332Leu Single submitter Niemann-Pick disease type A ⚠
• p.Pro353Leu Single submitter Niemann-Pick disease type A ⚠
• p.Pro401Arg Single submitter Niemann-Pick disease type A ⚠
• p.Pro430Ala Single submitter Niemann-Pick disease type A ⚠
• p.Pro477Gln Single submitter Niemann-Pick disease type A ⚠
• p.Pro529= Single submitter Niemann-Pick disease type B
• p.Pro533= Single submitter Niemann-Pick disease
• p.Pro533Leu Single submitter Niemann-Pick disease type A ⚠
• p.Ser233Phe Single submitter Niemann-Pick disease type B ⚠
• p.Ser509Thr Single submitter Niemann-Pick disease type A ⚠
• p.Ser510Phe Single submitter Niemann-Pick disease type A ⚠
• p.Thr219= Single submitter Inborn genetic diseases
• p.Thr24= Single submitter Niemann-Pick disease type A
• p.Thr399= Single submitter Niemann-Pick disease type B
• p.Thr460Pro Single submitter Niemann-Pick disease type A ⚠
• p.Thr518Ile Single submitter Niemann-Pick disease type A ⚠
• p.Thr544= Single submitter Niemann-Pick disease type A
• p.Trp573Ser Single submitter Niemann-Pick disease type B ⚠
• p.Tyr276Cys Single submitter Niemann-Pick disease type A ⚠
• p.Tyr369Cys Single submitter Niemann-Pick disease type A ⚠
• p.Tyr497His Single submitter Niemann-Pick disease type A ⚠
• p.Tyr500His Single submitter Niemann-Pick disease
• p.Tyr519Cys Single submitter Niemann-Pick disease type A ⚠
• p.Tyr539= Single submitter Niemann-Pick disease type B
• p.Val117Met Single submitter Niemann-Pick disease type B ⚠
• p.Val147= Single submitter Niemann-Pick disease type A
• p.Val314Met Single submitter Niemann-Pick disease type B ⚠
• p.Val445= Single submitter Niemann-Pick disease type A
• p.Val559Ile Single submitter Niemann-Pick disease type B ⚠
• p.Val77Met Single submitter Inborn genetic diseases ⚠

Benign 20

• c.1091+157G>C Multiple submitters
• c.319-59G>A Multiple submitters
• c.*45G>A Multiple submitters Niemann-Pick disease type A
• c.*74A>C Multiple submitters Niemann-Pick disease type A
• c.*91C>T Multiple submitters Niemann-Pick disease type A
• p.38AL[5] Multiple submitters Niemann-Pick disease type A
• p.Ala269= Multiple submitters Niemann-Pick disease type A
• p.Ala44_Leu49del Multiple submitters Niemann-Pick disease type B
• p.Asp212= Multiple submitters Niemann-Pick disease type B
• p.Gly508Arg Multiple submitters Niemann-Pick disease type A
• p.Pro187Ser Multiple submitters Niemann-Pick disease type A
• p.Val36_Leu37insAlaLeuAla Multiple submitters Niemann-Pick disease type A
• p.Val36_Leu39del Multiple submitters Niemann-Pick disease type B
• c.1091+194dup Single submitter
• c.1091+195dup Single submitter
• c.1091+278G>A Single submitter
• c.1264-84G>A Single submitter
• p.Arg542= Single submitter Niemann-Pick disease type A
• p.Val36= Single submitter
• p.Ala38fs No assertion criteria

Benign/Likely benign 17

• c.1340+7C>T Multiple submitters Niemann-Pick disease type A
• c.1487-36C>T Multiple submitters Niemann-Pick disease type A
• c.*294G>C Multiple submitters Niemann-Pick disease type A
• p.Ala238= Multiple submitters Niemann-Pick disease type A
• p.Ala487Val Multiple submitters Niemann-Pick disease type A
• p.Arg240Gln Multiple submitters Niemann-Pick disease type B
• p.Arg296Gln Multiple submitters Niemann-Pick disease type A
• p.Arg542Gln Multiple submitters Niemann-Pick disease type B
• p.Met33Ile Multiple submitters Niemann-Pick disease type A
• p.Pro271= Multiple submitters Inborn genetic diseases
• p.Ser583= Multiple submitters Niemann-Pick disease type B
• p.Thr588Met Multiple submitters Niemann-Pick disease type A
• p.Val301Ile Multiple submitters Niemann-Pick disease type B
• p.Val36_Leu37del Multiple submitters Niemann-Pick disease type B
• p.Val36_Leu37insAla Multiple submitters Niemann-Pick disease type B
• p.Val36_Leu41del Multiple submitters Niemann-Pick disease type B
• p.Val36delinsAlaLeu Multiple submitters Niemann-Pick disease type B

Likely benign 318

Showing the top 300 by review status; the full set is in the sitemap.

• c.1091+194T>A Multiple submitters
• p.Ala112= Multiple submitters Niemann-Pick disease type B
• p.Ala131= Multiple submitters Niemann-Pick disease type A
• p.Arg202= Multiple submitters Niemann-Pick disease type A
• p.Arg627= Multiple submitters Niemann-Pick disease type B
• p.Gln404= Multiple submitters Inborn genetic diseases
• p.Gly197= Multiple submitters Inborn genetic diseases
• p.Gly546= Multiple submitters Niemann-Pick disease type B
• p.Gly85Arg Multiple submitters Inborn genetic diseases ⚠
• p.Ile172= Multiple submitters Inborn genetic diseases
• p.Ile178= Multiple submitters Inborn genetic diseases
• p.Leu206= Multiple submitters Inborn genetic diseases
• p.Lys126= Multiple submitters Niemann-Pick disease type B
• p.Phe333= Multiple submitters Niemann-Pick disease type A
• p.Pro130= Multiple submitters Niemann-Pick disease type A
• p.Pro184= Multiple submitters Niemann-Pick disease type A
• p.Pro226= Multiple submitters Inborn genetic diseases
• p.Pro375= Multiple submitters Inborn genetic diseases
• p.Pro58= Multiple submitters Niemann-Pick disease type B
• p.Pro66= Multiple submitters Inborn genetic diseases
• p.Ser507= Multiple submitters Inborn genetic diseases
• p.Tyr245= Multiple submitters Niemann-Pick disease type A
• p.Val36_Leu43del Multiple submitters Niemann-Pick disease type B
• p.Val499= Multiple submitters Inborn genetic diseases
• p.Val512Met Multiple submitters Inborn genetic diseases
• c.1091+12C>A Single submitter Niemann-Pick disease type B
• c.1091+13C>G Single submitter Niemann-Pick disease type B
• c.1091+13C>T Single submitter Niemann-Pick disease type A
• c.1091+14G>A Single submitter Niemann-Pick disease type B
• c.1091+20A>T Single submitter Niemann-Pick disease type B
• c.1091+8del Single submitter Niemann-Pick disease type B
• c.1091+8T>G Single submitter Niemann-Pick disease type A
• c.1091+9C>G Single submitter Niemann-Pick disease type B
• c.1092-10_1092-3dup Single submitter Niemann-Pick disease type A
• c.1092-14T>A Single submitter Niemann-Pick disease type B
• c.1092-18_1092-17del Single submitter Niemann-Pick disease type B
• c.1092-7G>A Single submitter Niemann-Pick disease type B
• c.1092-9T>C Single submitter Niemann-Pick disease type A
• c.1263+10A>G Single submitter Niemann-Pick disease type B
• c.1263+9C>T Single submitter Niemann-Pick disease type A
• c.1264-10T>C Single submitter Niemann-Pick disease type B
• c.1264-14del Single submitter Niemann-Pick disease type B
• c.1264-19C>G Single submitter Niemann-Pick disease type A
• c.1264-4C>T Single submitter Niemann-Pick disease type A
• c.1264-78A>G Single submitter
• c.1264-7del Single submitter Niemann-Pick disease type B
• c.1264-9C>T Single submitter Niemann-Pick disease type A
• c.1340+11G>T Single submitter Niemann-Pick disease type A
• c.1340+17G>C Single submitter Niemann-Pick disease type A
• c.1340+18G>A Single submitter Niemann-Pick disease type A
• c.1340+20G>A Single submitter Niemann-Pick disease type A
• c.1340+9G>C Single submitter Niemann-Pick disease type B
• c.1341-12C>T Single submitter Niemann-Pick disease type B
• c.1341-13A>G Single submitter Niemann-Pick disease type B
• c.1341-15del Single submitter Niemann-Pick disease type A
• c.1341-19T>C Single submitter Niemann-Pick disease type A
• c.1341-20A>G Single submitter Niemann-Pick disease type B
• c.1341-22G>C Single submitter Niemann-Pick disease type A
• c.1341-6G>T Single submitter Niemann-Pick disease type B
• c.1341-7T>C Single submitter Niemann-Pick disease type B
• c.1486+10G>A Single submitter Niemann-Pick disease type B
• c.1486+11dup Single submitter Niemann-Pick disease type A
• c.1486+13G>T Single submitter Niemann-Pick disease type B
• c.1486+17G>T Single submitter Niemann-Pick disease type B
• c.1486+18G>C Single submitter Niemann-Pick disease type A
• c.1486+19A>G Single submitter Niemann-Pick disease type B
• c.1486+26C>T Single submitter
• c.1486+7G>A Single submitter Niemann-Pick disease type B
• c.1486+9G>A Single submitter Niemann-Pick disease type A
• c.1487-11C>A Single submitter Niemann-Pick disease type B
• c.1487-11C>T Single submitter Niemann-Pick disease type B
• c.1487-13C>T Single submitter Niemann-Pick disease type A
• c.1487-14C>G Single submitter Niemann-Pick disease type B
• c.1487-15C>T Single submitter Niemann-Pick disease type A
• c.1487-19C>A Single submitter Niemann-Pick disease type B
• c.1487-19C>T Single submitter Niemann-Pick disease type A
• c.1487-5T>C Single submitter Niemann-Pick disease type A
• c.318+10G>C Single submitter Niemann-Pick disease type B
• c.318+13G>C Single submitter Niemann-Pick disease type A
• c.318+20C>T Single submitter Niemann-Pick disease type B
• c.318+7A>C Single submitter Niemann-Pick disease type B
• c.318+7A>G Single submitter Niemann-Pick disease type A
• c.318+7A>T Single submitter Niemann-Pick disease type B
• c.319-10C>T Single submitter Niemann-Pick disease type B
• c.319-12C>T Single submitter Niemann-Pick disease type A
• c.319-13C>G Single submitter Niemann-Pick disease type B
• c.319-16dup Single submitter Niemann-Pick disease type A
• c.319-16G>A Single submitter Niemann-Pick disease type B
• c.319-17C>G Single submitter Niemann-Pick disease type B
• c.319-17C>T Single submitter Niemann-Pick disease type B
• c.319-20A>G Single submitter Niemann-Pick disease type B
• c.319-7A>G Single submitter Niemann-Pick disease type A
• c.319-7A>T Single submitter Niemann-Pick disease type A
• c.319-9C>T Single submitter Niemann-Pick disease type A
• p.Ala118= Single submitter Niemann-Pick disease type A
• p.Ala195= Single submitter Niemann-Pick disease type B
• p.Ala198= Single submitter Niemann-Pick disease type B
• p.Ala283= Single submitter Niemann-Pick disease type A
• p.Ala297= Single submitter Niemann-Pick disease type B
• p.Ala346= Single submitter Niemann-Pick disease type B
• p.Ala357= Single submitter Niemann-Pick disease type B
• p.Ala359= Single submitter Niemann-Pick disease type B
• p.Ala370= Single submitter Niemann-Pick disease type A
• p.Ala38= Single submitter Niemann-Pick disease type B
• p.Ala40= Single submitter Niemann-Pick disease type B
• p.Ala402= Single submitter Niemann-Pick disease type B
• p.Ala414= Single submitter Niemann-Pick disease type B
• p.Ala42= Single submitter Niemann-Pick disease type A
• p.Ala46= Single submitter Niemann-Pick disease type B
• p.Ala48= Single submitter Niemann-Pick disease type A
• p.Ala481= Single submitter Niemann-Pick disease type A
• p.Ala554= Single submitter Niemann-Pick disease type A
• p.Ala57= Single submitter Niemann-Pick disease type B
• p.Ala597= Single submitter Niemann-Pick disease type B
• p.Ala603= Single submitter Niemann-Pick disease type A
• p.Ala71= Single submitter Niemann-Pick disease type B
• p.Arg113= Single submitter Niemann-Pick disease type A
• p.Arg17= Single submitter Niemann-Pick disease type A
• p.Arg230= Single submitter Niemann-Pick disease type A
• p.Arg240= Single submitter Niemann-Pick disease type B
• p.Arg291= Single submitter Niemann-Pick disease type B
• p.Arg3= Single submitter Niemann-Pick disease type B
• p.Arg306= Single submitter Niemann-Pick disease type B
• p.Arg361= Single submitter Niemann-Pick disease type B
• p.Arg418= Single submitter Niemann-Pick disease type B
• p.Arg443= Single submitter Niemann-Pick disease type B
• p.Arg476= Single submitter Niemann-Pick disease type B
• p.Arg498= Single submitter Niemann-Pick disease type B
• p.Arg561= Single submitter Niemann-Pick disease type B
• p.Arg591= Single submitter Niemann-Pick disease type A
• p.Arg602= Single submitter Niemann-Pick disease type A
• p.Arg610= Single submitter Niemann-Pick disease type B
• p.Arg75= Single submitter Niemann-Pick disease type A
• p.Asn177= Single submitter Niemann-Pick disease type B
• p.Asn320= Single submitter Niemann-Pick disease type B
• p.Asn383= Single submitter Niemann-Pick disease type B
• p.Asn505= Single submitter Niemann-Pick disease type B
• p.Asn527= Single submitter Niemann-Pick disease type B
• p.Asn549= Single submitter Niemann-Pick disease type B
• p.Asp143= Single submitter Niemann-Pick disease type B
• p.Asp214= Single submitter Niemann-Pick disease type B
• p.Asp220= Single submitter Niemann-Pick disease type A
• p.Asp225= Single submitter Niemann-Pick disease type B
• p.Asp253= Single submitter Niemann-Pick disease type B
• p.Asp280= Single submitter Niemann-Pick disease type A
• p.Asp417= Single submitter Niemann-Pick disease type B
• p.Asp503= Single submitter Niemann-Pick disease type A
• p.Asp51= Single submitter Niemann-Pick disease type A
• p.Asp515= Single submitter Niemann-Pick disease type B
• p.Cys12= Single submitter Niemann-Pick disease type B
• p.Cys223= Single submitter Niemann-Pick disease type A
• p.Cys590= Single submitter Niemann-Pick disease type A
• p.Cys91= Single submitter Niemann-Pick disease type B
• p.Gln134= Single submitter Niemann-Pick disease type A
• p.Gln570= Single submitter Niemann-Pick disease type B
• p.Gln598= Single submitter Niemann-Pick disease type B
• p.Glu260= Single submitter Niemann-Pick disease type B
• p.Glu322= Single submitter Niemann-Pick disease type A
• p.Glu411= Single submitter Niemann-Pick disease type B
• p.Gly104= Single submitter Niemann-Pick disease type B
• p.Gly160= Single submitter Niemann-Pick disease type B
• p.Gly168= Single submitter Niemann-Pick disease type B
• p.Gly218= Single submitter Niemann-Pick disease type A
• p.Gly232= Single submitter Niemann-Pick disease type A
• p.Gly234= Single submitter Niemann-Pick disease type A
• p.Gly242= Single submitter Niemann-Pick disease type B
• p.Gly319= Single submitter Niemann-Pick disease type B
• p.Gly366= Single submitter Niemann-Pick disease type A
• p.Gly367= Single submitter Niemann-Pick disease type B
• p.Gly376= Single submitter Niemann-Pick disease type B
• p.Gly419= Single submitter Niemann-Pick disease type B
• p.Gly492= Single submitter Niemann-Pick disease type B
• p.Gly496= Single submitter Niemann-Pick disease type A
• p.Gly504= Single submitter Niemann-Pick disease type B
• p.Gly508= Single submitter Niemann-Pick disease type A
• p.Gly587= Single submitter Niemann-Pick disease type A
• p.Gly85= Single submitter Niemann-Pick disease type B
• p.His284= Single submitter Niemann-Pick disease type B
• p.His321= Single submitter Niemann-Pick disease type B
• p.His461= Single submitter Niemann-Pick disease type B
• p.His511= Single submitter Niemann-Pick disease type B
• p.His516= Single submitter Niemann-Pick disease type B
• p.His580= Single submitter Niemann-Pick disease type A
• p.His62= Single submitter Niemann-Pick disease type A
• p.Ile203= Single submitter Niemann-Pick disease type B
• p.Ile281= Single submitter Niemann-Pick disease type A
• p.Ile491= Single submitter Niemann-Pick disease type B
• p.Leu103= Single submitter Niemann-Pick disease type B
• p.Leu105= Single submitter Niemann-Pick disease type B
• p.Leu121= Single submitter Niemann-Pick disease type B
• p.Leu161= Single submitter Niemann-Pick disease type B
• p.Leu162= Single submitter Niemann-Pick disease type B
• p.Leu204= Single submitter Niemann-Pick disease type B
• p.Leu209= Single submitter Niemann-Pick disease type B
• p.Leu227= Single submitter Niemann-Pick disease type B
• p.Leu256= Single submitter Niemann-Pick disease type B
• p.Leu259= Single submitter Niemann-Pick disease type B
• p.Leu262= Single submitter Niemann-Pick disease type B
• p.Leu263= Single submitter Niemann-Pick disease type A
• p.Leu266= Single submitter Niemann-Pick disease type B
• p.Leu298= Single submitter Niemann-Pick disease type B
• p.Leu309= Single submitter Niemann-Pick disease type B
• p.Leu31= Single submitter Niemann-Pick disease type A
• p.Leu35= Single submitter Niemann-Pick disease type B
• p.Leu360= Single submitter Niemann-Pick disease type B
• p.Leu379= Single submitter Niemann-Pick disease type B
• p.Leu39= Single submitter Niemann-Pick disease type B
• p.Leu394= Single submitter Niemann-Pick disease type B
• p.Leu408= Single submitter Niemann-Pick disease type B
• p.Leu434= Single submitter Niemann-Pick disease type B
• p.Leu45= Single submitter Niemann-Pick disease type B
• p.Leu452= Single submitter Niemann-Pick disease type B
• p.Leu474= Single submitter Niemann-Pick disease type B
• p.Leu483= Single submitter Niemann-Pick disease type B
• p.Leu49= Single submitter Niemann-Pick disease type B
• p.Leu514= Single submitter Niemann-Pick disease type B
• p.Leu521= Single submitter Niemann-Pick disease type B
• p.Leu523= Single submitter Niemann-Pick disease type B
• p.Leu547= Single submitter Niemann-Pick disease type A
• p.Leu551= Single submitter Niemann-Pick disease type B
• p.Leu558= Single submitter Niemann-Pick disease type B
• p.Leu575= Single submitter Niemann-Pick disease type A
• p.Leu592= Single submitter Niemann-Pick disease type B
• p.Leu595= Single submitter Niemann-Pick disease type B
• p.Leu612= Single submitter Niemann-Pick disease type B
• p.Leu618= Single submitter Niemann-Pick disease type B
• p.Leu629= Single submitter Niemann-Pick disease type B
• p.Lys578= Single submitter Niemann-Pick disease type B
• p.Lys95= Single submitter Niemann-Pick disease type B
• p.Met613Ile Single submitter Niemann-Pick disease type A
• p.Phe140= Single submitter Niemann-Pick disease type A
• p.Phe173= Single submitter Niemann-Pick disease type B
• p.Phe205= Single submitter Niemann-Pick disease type B
• p.Phe329= Single submitter Niemann-Pick disease type B
• p.Phe457= Single submitter Niemann-Pick disease type B
• p.Phe630= Single submitter Niemann-Pick disease type B
• p.Pro155= Single submitter Niemann-Pick disease type B
• p.Pro187= Single submitter Niemann-Pick disease type B
• p.Pro188= Single submitter Niemann-Pick disease type B
• p.Pro191= Single submitter Niemann-Pick disease type A
• p.Pro193= Single submitter Niemann-Pick disease type B
• p.Pro236= Single submitter Niemann-Pick disease type A
• p.Pro237= Single submitter Niemann-Pick disease type B
• p.Pro241= Single submitter Niemann-Pick disease type B
• p.Pro255= Single submitter Niemann-Pick disease type A
• p.Pro282= Single submitter Niemann-Pick disease type B
• p.Pro313= Single submitter Niemann-Pick disease type A
• p.Pro316= Single submitter Niemann-Pick disease type B
• p.Pro331= Single submitter Niemann-Pick disease type A
• p.Pro332= Single submitter Niemann-Pick disease type B
• p.Pro353= Single submitter Niemann-Pick disease type A
• p.Pro401= Single submitter Niemann-Pick disease type B
• p.Pro430= Single submitter Niemann-Pick disease type A
• p.Pro477= Single submitter Niemann-Pick disease type B
• p.Pro548= Single submitter Niemann-Pick disease type A
• p.Pro582= Single submitter Niemann-Pick disease type B
• p.Pro70= Single submitter Niemann-Pick disease type B
• p.Pro78= Single submitter Niemann-Pick disease type B
• p.Pro92= Single submitter Niemann-Pick disease type B
• p.Ser11= Single submitter Niemann-Pick disease type B
• p.Ser116= Single submitter Niemann-Pick disease type B
• p.Ser135= Single submitter Niemann-Pick disease type B
• p.Ser174= Single submitter Niemann-Pick disease type B
• p.Ser192= Single submitter Niemann-Pick disease type B
• p.Ser201= Single submitter Niemann-Pick disease type B
• p.Ser233= Single submitter Niemann-Pick disease type A
• p.Ser323= Single submitter Niemann-Pick disease type B
• p.Ser328= Single submitter Niemann-Pick disease type B
• p.Ser339= Single submitter Niemann-Pick disease type B
• p.Ser340= Single submitter Niemann-Pick disease type A
• p.Ser381= Single submitter Niemann-Pick disease type B
• p.Ser398= Single submitter Niemann-Pick disease type B
• p.Ser50= Single submitter Niemann-Pick disease type B
• p.Ser509= Single submitter Niemann-Pick disease type A
• p.Ser52= Single submitter Niemann-Pick disease type A
• p.Ser605= Single submitter Niemann-Pick disease type B
• p.Thr207= Single submitter Niemann-Pick disease type A
• p.Thr258= Single submitter Niemann-Pick disease type B
• p.Thr278= Single submitter Niemann-Pick disease type B
• p.Thr299= Single submitter Niemann-Pick disease type B
• p.Thr300= Single submitter Niemann-Pick disease type B
• p.Thr488= Single submitter Niemann-Pick disease type B
• p.Thr489= Single submitter Niemann-Pick disease type B
• p.Thr518= Single submitter Niemann-Pick disease type A
• p.Thr524= Single submitter Niemann-Pick disease type B
• p.Thr553= Single submitter Niemann-Pick disease type A
• p.Thr571= Single submitter Niemann-Pick disease type B
• p.Thr588= Single submitter Niemann-Pick disease type B
• p.Thr594= Single submitter Niemann-Pick disease type B
• p.Thr99= Single submitter Niemann-Pick disease type B
• p.Tyr249= Single submitter Niemann-Pick disease type B
• p.Tyr276= Single submitter Niemann-Pick disease type B
• p.Tyr374= Single submitter Niemann-Pick disease type B
• p.Tyr441= Single submitter Niemann-Pick disease type B
• p.Tyr469= Single submitter Niemann-Pick disease type B
• p.Tyr490= Single submitter Niemann-Pick disease type B
• p.Tyr506= Single submitter Niemann-Pick disease type B
• p.Tyr519= Single submitter Niemann-Pick disease type B
• p.Tyr545= Single submitter Niemann-Pick disease type B
• p.Tyr576= Single submitter Niemann-Pick disease type A

Uncertain significance 276

• p.Ala346Val Multiple submitters Niemann-Pick disease type A ⚠
• p.Ala38Glu Multiple submitters Niemann-Pick disease type A ⚠
• p.Ala38Val Multiple submitters Niemann-Pick disease type B ⚠
• p.Ala446Gly Multiple submitters Inborn genetic diseases ⚠
• p.Ala554Thr Multiple submitters Niemann-Pick disease type A ⚠
• p.Ala71Thr Multiple submitters Niemann-Pick disease type B ⚠
• p.Arg150Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg202Cys Multiple submitters Niemann-Pick disease type A ⚠
• p.Arg231Gln Multiple submitters Niemann-Pick disease type A ⚠
• p.Arg341Cys Multiple submitters ⚠
• p.Arg341His Multiple submitters Niemann-Pick disease type B ⚠
• p.Arg361Cys Multiple submitters Niemann-Pick disease type A ⚠
• p.Arg361His Multiple submitters Niemann-Pick disease type A ⚠
• p.Arg389Cys Multiple submitters Niemann-Pick disease type A
• p.Arg389His Multiple submitters Niemann-Pick disease type B ⚠
• p.Arg443Gln Multiple submitters intellectual disability ⚠
• p.Arg591Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg591His Multiple submitters Niemann-Pick disease type B ⚠
• p.Asn102Ser Multiple submitters Niemann-Pick disease type A ⚠
• p.Asn522Lys Multiple submitters ⚠
• p.Asn88Ser Multiple submitters ⚠
• p.Asp142Asn Multiple submitters Inborn genetic diseases ⚠
• p.Glu352Ala Multiple submitters Inborn genetic diseases ⚠
• p.Gly20Arg Multiple submitters Niemann-Pick disease type B ⚠
• p.Gly34Asp Multiple submitters ⚠
• p.His556Tyr Multiple submitters Niemann-Pick disease type B
• p.His611Gln Multiple submitters Niemann-Pick disease type B ⚠
• p.Ile365Thr Multiple submitters Inborn genetic diseases ⚠
• p.Leu204Phe Multiple submitters Niemann-Pick disease type A ⚠
• p.Leu35_Val36insAlaLeuAlaLeuAlaLeu Multiple submitters Niemann-Pick disease type B
• p.Leu379Phe Multiple submitters SMPD1-related disorder ⚠
• p.Leu45_Ala46insValLeuAlaLeuAlaLeuAlaLeuAlaLeu Multiple submitters Niemann-Pick disease type B
• p.Lys95Gln Multiple submitters Inborn genetic diseases ⚠
• p.Met274Val Multiple submitters Niemann-Pick disease type A ⚠
• p.Pro325delinsLeuSer Multiple submitters Niemann-Pick disease type A
• p.Pro331Ser Multiple submitters Niemann-Pick disease type A ⚠
• p.Tyr245His Multiple submitters Niemann-Pick disease ⚠
• p.Val114Met Multiple submitters Niemann-Pick disease type A ⚠
• p.Val132Met Multiple submitters Niemann-Pick disease type A ⚠
• p.Val36Leu Multiple submitters Inborn genetic diseases ⚠
• c.1091+45A>G Single submitter Niemann-Pick disease type B
• c.1091+4C>A Single submitter
• c.1263+4A>T Single submitter
• c.1263+8C>T Single submitter Niemann-Pick disease type B
• c.1341-5del Single submitter
• c.1487-4G>A Single submitter Niemann-Pick disease type B
• c.-39A>T Single submitter Niemann-Pick disease type A
• c.*183T>G Single submitter Niemann-Pick disease type A
• c.*272G>C Single submitter Niemann-Pick disease type A
• c.*5C>G Single submitter
• c.*83A>G Single submitter Niemann-Pick disease type A
• c.*8G>A Single submitter
• p.38AL[2] Single submitter Niemann-Pick disease type A
• p.Ala100Asp Single submitter Niemann-Pick disease type B ⚠
• p.Ala100Val Single submitter Niemann-Pick disease type A ⚠
• p.Ala112Val Single submitter Inborn genetic diseases ⚠
• p.Ala118Asp Single submitter Niemann-Pick disease type B ⚠
• p.Ala158Thr Single submitter Niemann-Pick disease type A ⚠
• p.Ala238Thr Single submitter Niemann-Pick disease type B ⚠
• p.Ala297Val Single submitter Niemann-Pick disease type B ⚠
• p.Ala359Thr Single submitter ⚠
• p.Ala402Thr Single submitter Niemann-Pick disease type A ⚠
• p.Ala415Val Single submitter Niemann-Pick disease type A ⚠
• p.Ala454Thr Single submitter Niemann-Pick disease type A ⚠
• p.Ala479= Single submitter
• p.Ala484Gly Single submitter acid sphingomyelinase deficiency ⚠
• p.Ala531Gly Single submitter Niemann-Pick disease type B ⚠
• p.Ala541Asp Single submitter ⚠
• p.Ala554Pro Single submitter Niemann-Pick disease type A
• p.Arg113Leu Single submitter Niemann-Pick disease type A ⚠
• p.Arg150His Single submitter Inborn genetic diseases ⚠
• p.Arg17Gln Single submitter Niemann-Pick disease type B ⚠
• p.Arg202Leu Single submitter ⚠
• p.Arg202Ser Single submitter ⚠
• p.Arg231Trp Single submitter Niemann-Pick disease type B ⚠
• p.Arg296Trp Single submitter ⚠
• p.Arg341Pro Single submitter Niemann-Pick disease type A
• p.Arg443Gly Single submitter ⚠
• p.Arg443Leu Single submitter Niemann-Pick disease type B ⚠
• p.Arg443Pro Single submitter Niemann-Pick disease type B ⚠
• p.Arg53Pro Single submitter Inborn genetic diseases ⚠
• p.Arg53Trp Single submitter ⚠
• p.Arg561Cys Single submitter Niemann-Pick disease type B ⚠
• p.Arg563Gln Single submitter Niemann-Pick disease type B ⚠
• p.Arg610Leu Single submitter Niemann-Pick disease type A ⚠
• p.Arg627Ser Single submitter Niemann-Pick disease type A ⚠
• p.Arg72Met Single submitter Niemann-Pick disease type B ⚠
• p.Arg81Leu Single submitter Inborn genetic diseases ⚠
• p.Asn177Tyr Single submitter ⚠
• p.Asn337Ser Single submitter Niemann-Pick disease type B ⚠
• p.Asn385Lys Single submitter ⚠
• p.Asn549Lys Single submitter
• p.Asn88His Single submitter ⚠
• p.Asp143Tyr Single submitter ⚠
• p.Asp293= Single submitter Niemann-Pick disease type A
• p.Asp293Asn Single submitter Inborn genetic diseases ⚠
• p.Asp470Glu Single submitter Niemann-Pick disease type A
• p.Asp503Asn Single submitter Niemann-Pick disease type B ⚠
• p.Asp565Asn Single submitter Niemann-Pick disease type B ⚠
• p.Asp604Asn Single submitter Niemann-Pick disease type B ⚠
• p.Asp615Gly Single submitter ⚠
• p.Cys229Tyr Single submitter ⚠
• p.Cys387Tyr Single submitter Niemann-Pick disease type A ⚠
• p.Cys91Trp Single submitter Niemann-Pick disease type B ⚠
• p.Gln570Pro Single submitter ⚠
• p.Glu108Gln Single submitter Inborn genetic diseases ⚠
• p.Glu146del Single submitter Niemann-Pick disease type B
• p.Glu352Lys Single submitter Inborn genetic diseases ⚠
• p.Glu390Gln Single submitter Niemann-Pick disease type A ⚠
• p.Glu449Gln Single submitter ⚠
• p.Gly104Arg Single submitter Niemann-Pick disease type B
• p.Gly218Asp Single submitter Inborn genetic diseases ⚠
• p.Gly234Asp Single submitter ⚠
• p.Gly247Ala Single submitter ⚠
• p.Gly247Arg Single submitter ⚠
• p.Gly279Glu Single submitter ⚠
• p.Gly34Ser Single submitter Niemann-Pick disease type B ⚠
• p.Gly366Trp Single submitter Inborn genetic diseases ⚠
• p.Gly376Ser Single submitter Inborn genetic diseases ⚠
• p.Gly431Arg Single submitter Inborn genetic diseases ⚠
• p.Gly492Arg Single submitter Niemann-Pick disease type B ⚠
• p.Gly496Ser Single submitter Niemann-Pick disease type A ⚠
• p.Gly504Arg Single submitter Niemann-Pick disease type A ⚠
• p.Gly530Arg Single submitter Inborn genetic diseases ⚠
• p.Gly546_Leu547insArg Single submitter Niemann-Pick disease type B
• p.Gly68Asp Single submitter Inborn genetic diseases ⚠
• p.His169Asn Single submitter Inborn genetic diseases ⚠
• p.His210Arg Single submitter ⚠
• p.His288Tyr Single submitter Inborn genetic diseases ⚠
• p.His577Tyr Single submitter Niemann-Pick disease type B ⚠
• p.His74Pro Single submitter ⚠
• p.Ile119Met Single submitter Inborn genetic diseases ⚠
• p.Ile127Thr Single submitter Niemann-Pick disease type A ⚠
• p.Ile424Val Single submitter Niemann-Pick disease type B ⚠
• p.Ile502Val Single submitter Inborn genetic diseases ⚠
• p.Ile520Leu Single submitter ⚠
• p.Ile93Val Single submitter Niemann-Pick disease type A ⚠
• p.Leu125Pro Single submitter Inborn genetic diseases ⚠
• p.Leu139Phe Single submitter Niemann-Pick disease type B ⚠
• p.Leu216Val Single submitter ⚠
• p.Leu266Val Single submitter Niemann-Pick disease type B ⚠
• p.Leu37fs Single submitter
• p.Leu452Val Single submitter Niemann-Pick disease type B ⚠
• p.Leu493Phe Single submitter Niemann-Pick disease type A
• p.Leu55His Single submitter Niemann-Pick disease type B ⚠
• p.Leu592Val Single submitter Inborn genetic diseases ⚠
• p.Leu599Ile Single submitter ⚠
• p.Leu612fs Single submitter
• p.Lys578Asn Single submitter Niemann-Pick disease type A ⚠
• p.Met274Thr Single submitter ⚠
• p.Met566Ile Single submitter Niemann-Pick disease type A ⚠
• p.Met566Thr Single submitter ⚠
• p.Met613Thr Single submitter Inborn genetic diseases ⚠
• p.Phe329Cys Single submitter Niemann-Pick disease type A ⚠
• p.Phe457Leu Single submitter ⚠
• p.Phe482Leu Single submitter ⚠
• p.Phe572del Single submitter Inborn genetic diseases
• p.Phe574Val Single submitter Niemann-Pick disease type B
• p.Pro130Ser Single submitter Inborn genetic diseases ⚠
• p.Pro181Leu Single submitter ⚠
• p.Pro181Thr Single submitter Inborn genetic diseases ⚠
• p.Pro187Thr Single submitter ⚠
• p.Pro190Leu Single submitter Niemann-Pick disease type B ⚠
• p.Pro194Ser Single submitter Niemann-Pick disease type A ⚠
• p.Pro221Thr Single submitter Niemann-Pick disease type B ⚠
• p.Pro271Leu Single submitter Inborn genetic diseases ⚠
• p.Pro282Thr Single submitter ⚠
• p.Pro313Ser Single submitter ⚠
• p.Pro316Ser Single submitter ⚠
• p.Pro330Ala Single submitter ⚠
• p.Pro401Ala Single submitter Niemann-Pick disease type B ⚠
• p.Pro430Arg Single submitter ⚠
• p.Pro495Ser Single submitter ⚠
• p.Pro529Leu Single submitter Niemann-Pick disease ⚠
• p.Pro529Thr Single submitter Inborn genetic diseases ⚠
• p.Pro582Thr Single submitter Inborn genetic diseases ⚠
• p.Pro585His Single submitter Inborn genetic diseases ⚠
• p.Pro614Ser Single submitter Inborn genetic diseases ⚠
• p.Pro619fs Single submitter
• p.Pro626Gln Single submitter Inborn genetic diseases ⚠
• p.Ser179Phe Single submitter Niemann-Pick disease type A ⚠
• p.Ser192Arg Single submitter Niemann-Pick disease type A ⚠
• p.Ser323Ile Single submitter Niemann-Pick disease type B ⚠
• p.Ser438Gly Single submitter ⚠
• p.Ser50Pro Single submitter ⚠
• p.Ser52Phe Single submitter Inborn genetic diseases ⚠
• p.Ser583Ala Single submitter Niemann-Pick disease type A ⚠
• p.Ser605Gly Single submitter ⚠
• p.Ser617Asn Single submitter Inborn genetic diseases ⚠
• p.Thr166Ile Single submitter ⚠
• p.Thr182Ala Single submitter Niemann-Pick disease type A ⚠
• p.Thr219_Asp220insGlu Single submitter
• p.Thr219Met Single submitter ⚠
• p.Thr258Pro Single submitter ⚠
• p.Thr278Ile Single submitter Niemann-Pick disease type A ⚠
• p.Thr299Ile Single submitter Niemann-Pick disease type A ⚠
• p.Thr324Ile Single submitter Niemann-Pick disease type B ⚠
• p.Thr399Ala Single submitter ⚠
• p.Thr399Met Single submitter ⚠
• p.Thr518Pro Single submitter Inborn genetic diseases ⚠
• p.Thr571Asn Single submitter ⚠
• p.Thr588Lys Single submitter Niemann-Pick disease type A ⚠
• p.Thr99Ala Single submitter Inborn genetic diseases ⚠
• p.Trp148Arg Single submitter ⚠
• p.Trp56Cys Single submitter Inborn genetic diseases ⚠
• p.Tyr245Ser Single submitter Niemann-Pick disease type A ⚠
• p.Tyr276His Single submitter ⚠
• p.Tyr441Cys Single submitter Niemann-Pick disease type A ⚠
• p.Tyr442del Single submitter Niemann-Pick disease type B
• p.Tyr490Asn Single submitter ⚠
• p.Tyr506Cys Single submitter Niemann-Pick disease type A ⚠
• p.Tyr519Phe Single submitter ⚠
• p.Tyr560His Single submitter Inborn genetic diseases ⚠
• p.Val132Ala Single submitter ⚠
• p.Val147Ala Single submitter Inborn genetic diseases ⚠
• p.Val147Met Single submitter Niemann-Pick disease type A
• p.Val152Leu Single submitter Inborn genetic diseases ⚠
• p.Val275Leu Single submitter Niemann-Pick disease type A ⚠
• p.Val286Ile Single submitter ⚠
• p.Val312Met Single submitter ⚠
• p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAla Single submitter Niemann-Pick disease type A
• p.Val36delinsAlaLeuAlaLeuAla Single submitter
• p.Val409Ala Single submitter ⚠
• p.Val445Ile Single submitter Niemann-Pick disease type B ⚠
• p.Val559Leu Single submitter ⚠
• c.1486+6_1486+9del No assertion criteria Niemann-Pick disease type A
• c.318+10G>A No assertion criteria Niemann-Pick disease type A
• c.318+5G>A No assertion criteria Niemann-Pick disease
• c.*6C>T No assertion criteria Niemann-Pick disease type A
• p.38_39AL[9] No assertion criteria Niemann-Pick disease type A
• p.Ala128Glu No assertion criteria Niemann-Pick disease type A ⚠
• p.Ala303Val No assertion criteria Niemann-Pick disease type A ⚠
• p.Ala317Thr No assertion criteria Niemann-Pick disease type A ⚠
• p.Ala40Pro No assertion criteria Niemann-Pick disease type A ⚠
• p.Ala554Asp No assertion criteria Niemann-Pick disease type A ⚠
• p.Ala554Ser No assertion criteria Niemann-Pick disease type A ⚠
• p.Arg150Ser No assertion criteria SMPD1-related disorder ⚠
• p.Asp285His No assertion criteria Niemann-Pick disease type A
• p.Asp565His No assertion criteria Niemann-Pick disease type A ⚠
• p.Cys229Phe No assertion criteria ⚠
• p.Cys590Arg No assertion criteria Niemann-Pick disease type A ⚠
• p.Gln598Arg No assertion criteria Niemann-Pick disease type A
• p.Glu217Gln No assertion criteria Niemann-Pick disease type A ⚠
• p.Glu472= No assertion criteria Niemann-Pick disease type A
• p.Glu60Gln No assertion criteria Niemann-Pick disease type A ⚠
• p.Glu620Lys No assertion criteria Niemann-Pick disease type A ⚠
• p.Gly115Ser No assertion criteria Niemann-Pick disease type A ⚠
• p.Gly232Ala No assertion criteria Niemann-Pick disease ⚠
• p.Gly336= No assertion criteria Niemann-Pick disease type A
• p.Gly530= No assertion criteria Niemann-Pick disease type A
• p.His427= No assertion criteria Niemann-Pick disease type A
• p.Ile396Val No assertion criteria Niemann-Pick disease type A ⚠
• p.Ile428Met No assertion criteria Niemann-Pick disease type A
• p.Ile491Leu No assertion criteria Niemann-Pick disease ⚠
• p.Ile491Val No assertion criteria Niemann-Pick disease ⚠
• p.Leu39_Leu47delinsProAla No assertion criteria SMPD1-related disorder
• p.Leu43_Ser50del No assertion criteria Niemann-Pick disease type A
• p.Leu49_Ser50del No assertion criteria Niemann-Pick disease type A
• p.Leu521Pro No assertion criteria Niemann-Pick disease type A ⚠
• p.Leu599Phe No assertion criteria Niemann-Pick disease type A ⚠
• p.Leu89Ile No assertion criteria Niemann-Pick disease type A ⚠
• p.Leu89Phe No assertion criteria Niemann-Pick disease type A ⚠
• p.Lys349= No assertion criteria Niemann-Pick disease type A
• p.Lys578Thr No assertion criteria Niemann-Pick disease type A ⚠
• p.Phe308= No assertion criteria Niemann-Pick disease type A
• p.Pro221Ser No assertion criteria Niemann-Pick disease type A ⚠
• p.Pro332Thr No assertion criteria Niemann-Pick disease type A ⚠
• p.Pro66Leu No assertion criteria Niemann-Pick disease type A ⚠
• p.Pro70Ala No assertion criteria SMPD1-related disorder ⚠
• p.Pro70Leu No assertion criteria Niemann-Pick disease type A ⚠
• p.Ser388Pro No assertion criteria Niemann-Pick disease type A ⚠
• p.Thr300dup No assertion criteria Niemann-Pick disease type A
• p.Thr553Ala No assertion criteria Niemann-Pick disease type A ⚠
• p.Trp287Cys No assertion criteria Niemann-Pick disease ⚠
• p.Trp287Gly No assertion criteria Niemann-Pick disease type A ⚠
• p.Val559Ala No assertion criteria Niemann-Pick disease ⚠