NPC1 — 2631 ClinVar variants

All ClinVar germline NPC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 713 flagged for review →

243 Pathogenic · 105 Pathogenic/Likely pathogenic · 258 Likely pathogenic · 149 Conflicting · 58 Benign · 39 Benign/Likely benign · 1122 Likely benign · 657 Uncertain significance

Full NPC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 713

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 52

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

NPC1 p.Ala926Thr Pathogenic/Likely pathogenic Multiple submitters
Inborn genetic diseases
NPC1 p.Ala926Val Pathogenic/Likely pathogenic Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Ala927Val Pathogenic/Likely pathogenic Multiple submitters
Inborn genetic diseases
NPC1 p.Arg372Trp Pathogenic/Likely pathogenic Multiple submitters
Niemann-Pick disease type C
NPC1 p.Arg518Gln Pathogenic Multiple submitters
Niemann-Pick disease type C
NPC1 p.Arg518Trp Pathogenic/Likely pathogenic Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Arg615His Likely pathogenic Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Arg934Gln Pathogenic/Likely pathogenic Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Arg958Gln Pathogenic/Likely pathogenic Multiple submitters
NPC1-related disorder
NPC1 p.Arg978Cys Pathogenic/Likely pathogenic Multiple submitters
Niemann-Pick disease type C
NPC1 p.Arg978Ser Likely pathogenic Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Asn968Ser Pathogenic/Likely pathogenic Multiple submitters
Niemann-Pick disease type C
NPC1 p.Asp712Asn Pathogenic/Likely pathogenic Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Asp874Val Pathogenic/Likely pathogenic Multiple submitters
Inborn genetic diseases
NPC1 p.Glu1189Gly Pathogenic/Likely pathogenic Multiple submitters
Niemann-Pick disease type C
NPC1 p.Gly910Ser Pathogenic/Likely pathogenic Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Gly992Ala Pathogenic/Likely pathogenic Multiple submitters
Niemann-Pick disease type C
NPC1 p.Gly992Arg Pathogenic Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Ile1061Thr Pathogenic Multiple submitters
lysosomal storage disease
NPC1 p.Met1001Val Pathogenic/Likely pathogenic Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Pro434Leu Pathogenic/Likely pathogenic Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Pro887Leu Pathogenic/Likely pathogenic Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Ser734Gly Likely pathogenic Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Ser865Leu Pathogenic Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Ser940Leu Pathogenic/Likely pathogenic Multiple submitters
Niemann-Pick disease type C
NPC1 p.Thr1036Ala Pathogenic/Likely pathogenic Multiple submitters
Niemann-Pick disease type C
NPC1 p.Thr375Ala Pathogenic/Likely pathogenic Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Tyr634Phe Pathogenic/Likely pathogenic Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Tyr825Cys Pathogenic/Likely pathogenic Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Val1141Gly Pathogenic/Likely pathogenic Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Val378Ala Pathogenic/Likely pathogenic Multiple submitters
Niemann-Pick disease type C
NPC1 p.Val950Met Pathogenic/Likely pathogenic Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Ala1151Ser Likely pathogenic Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ala1174Val Likely pathogenic Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ala764Ser Likely pathogenic Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ala927Gly Pathogenic Single submitter
Niemann-Pick disease, type C1
NPC1 p.Arg389His Likely pathogenic Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asn478Thr Likely pathogenic Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asp874Tyr Likely pathogenic Single submitter
Niemann-Pick disease, type C1
NPC1 p.Cys1168Gly Likely pathogenic Single submitter
Niemann-Pick disease, type C1
NPC1 p.His530Tyr Likely pathogenic Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ile685Leu Likely pathogenic Single submitter
Niemann-Pick disease, type C1
NPC1 p.Leu1191Val Likely pathogenic Single submitter
Niemann-Pick disease, type C1
NPC1 p.Met1194Thr Likely pathogenic Single submitter
Niemann-Pick disease, type C1
NPC1 p.Pro249Ser Likely pathogenic Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ser167Leu Likely pathogenic Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ser865Thr Likely pathogenic Single submitter
Niemann-Pick disease, type C1
NPC1 p.Thr1036Ser Likely pathogenic Single submitter
Niemann-Pick disease, type C1
NPC1 p.Val920Met Likely pathogenic Single submitter
Niemann-Pick disease, type C1
NPC1 p.Gln928Pro Pathogenic No assertion criteria
Niemann-Pick disease, type C1
NPC1 p.Thr1043Ala Pathogenic No assertion criteria
Niemann-Pick disease, type C1
NPC1 p.Val889Met Pathogenic No assertion criteria
Niemann-Pick disease, type C1, adult form

Predictors agree, ClinVar conflicts 40

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

NPC1 p.Ala1058Asp Conflicting Single submitter
Inborn genetic diseases
NPC1 p.Ala183Thr Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ala321Val Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ala363Val Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ala521Ser Conflicting Single submitter
Inborn genetic diseases
NPC1 p.Arg1186Cys Conflicting Single submitter
Inborn genetic diseases
NPC1 p.Arg789His Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Arg78Gln Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Arg96Gly Conflicting Single submitter
Niemann-Pick disease type C
NPC1 p.Arg978His Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asn1156Thr Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asn589Ser Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asn961Ser Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asp170Glu Conflicting Single submitter
Inborn genetic diseases
NPC1 p.Asp37Gly Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Cys184Ser Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Cys468Gly Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Cys479Tyr Conflicting Single submitter
Inborn genetic diseases
NPC1 p.Cys516Tyr Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Gln421Glu Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Gln447Lys Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Gly1073Ser Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ile1094Thr Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ile450Val Conflicting Single submitter
Inborn genetic diseases
NPC1 p.Ile787Val Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Leu1045Pro Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Leu1191Pro Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Leu408Pro Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Leu830Pro Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Met872Val Conflicting Single submitter
Inborn genetic diseases
NPC1 p.Pro424Ser Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ser865Ala Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Thr477Met Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Tyr192His Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Val1115Phe Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Val1165Leu Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Val1165Met Conflicting Single submitter
Niemann-Pick disease type C
NPC1 p.Val517Ile Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Val624Ile Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Val757Met Conflicting Single submitter
Niemann-Pick disease, type C1

Predictors lean, ClinVar uncertain 315

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 315

NPC1 p.Ala1108Val Uncertain significance Multiple submitters
Inborn genetic diseases
NPC1 p.Ala165Val Uncertain significance Multiple submitters
NPC1 p.Ala181Thr Uncertain significance Multiple submitters
Inborn genetic diseases
NPC1 p.Ala329Thr Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Ala3Thr Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Ala521Thr Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Ala659Val Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Ala745Glu Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Ala885Val Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Arg1274Gln Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Arg372Gln Uncertain significance Multiple submitters
Inborn genetic diseases
NPC1 p.Arg711Gly Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Asn188Ser Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Asn916Ser Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Asp182Asn Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Asp306Asn Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Asp502Asn Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Asp868Val Uncertain significance Multiple submitters
Inborn genetic diseases
NPC1 p.Cys334Ser Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Gln407His Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Glu1067Lys Uncertain significance Multiple submitters
Inborn genetic diseases
NPC1 p.Glu1265Val Uncertain significance Multiple submitters
Inborn genetic diseases
NPC1 p.Glu895Lys Uncertain significance Multiple submitters
NPC1 p.Gly784Ala Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Ile1109Val Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Ile1223Val Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Ile1242Val Uncertain significance Multiple submitters
Inborn genetic diseases
NPC1 p.Ile190Thr Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Ile271Val Uncertain significance Multiple submitters
Inborn genetic diseases
NPC1 p.Ile837Val Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Ile923Val Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Leu1060Phe Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Leu1230Ser Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Leu577Phe Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Leu695Val Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Leu91Val Uncertain significance Multiple submitters
Inborn genetic diseases
NPC1 p.Lys196Glu Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Lys250Thr Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Lys576Arg Uncertain significance Multiple submitters
Inborn genetic diseases
NPC1 p.Lys987Gln Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Met156Val Uncertain significance Multiple submitters
Inborn genetic diseases
NPC1 p.Met872Leu Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Met912Leu Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Phe1207Ser Uncertain significance Multiple submitters
Silver-Russell syndrome
NPC1 p.Phe1221Ser Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Pro255Ser Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Pro430Arg Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Pro520Ser Uncertain significance Multiple submitters
Inborn genetic diseases
NPC1 p.Ser1254Thr Uncertain significance Multiple submitters
Inborn genetic diseases
NPC1 p.Ser385Gly Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Ser425Leu Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Ser666Asn Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Ser880Arg Uncertain significance Multiple submitters
Inborn genetic diseases
NPC1 p.Thr536Met Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Thr759Ala Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Thr933Ile Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Tyr28Cys Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Tyr709Phe Uncertain significance Multiple submitters
Inborn genetic diseases
NPC1 p.Val1044Met Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Val1184Met Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Val494Met Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Val697Ala Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Val977Ile Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Ala1017Thr Uncertain significance Single submitter
NPC1-related disorder
NPC1 p.Ala1258Asp Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ala1258Val Uncertain significance Single submitter
NPC1 p.Ala155Ser Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ala159Val Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ala183Ser Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ala183Val Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ala278Val Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ala289Gly Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ala310Asp Uncertain significance Single submitter
Inborn genetic diseases
NPC1 p.Ala388Pro Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ala3Val Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ala427Gly Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ala659Thr Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ala927Thr Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ala938Thr Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Arg116Gln Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Arg1227Gly Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Arg1227Met Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Arg1227Thr Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Arg1266Leu Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Arg336Lys Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Arg647Ser Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Arg711Ser Uncertain significance Single submitter
Inborn genetic diseases
NPC1 p.Asn103Lys Uncertain significance Single submitter
NPC1 p.Asn106Asp Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asn1072Ser Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asn1101Lys Uncertain significance Single submitter
NPC1 p.Asn1101Ser Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asn1277Ser Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asn1277Thr Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asn376Asp Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asn86Thr Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asn916Lys Uncertain significance Single submitter
NPC1 p.Asp211Asn Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asp416Glu Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asp416Gly Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asp531His Uncertain significance Single submitter
NPC1 p.Asp552Tyr Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asp552Val Uncertain significance Single submitter
NPC1 p.Asp806Gly Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asp85Glu Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asp868Ala Uncertain significance Single submitter
NPC1 p.Cys1119Tyr Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Cys1161Arg Uncertain significance Single submitter
NPC1 p.Cys1161Ser Uncertain significance Single submitter
NPC1 p.Cys243Ser Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Cys31Arg Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Cys516Trp Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Cys74Tyr Uncertain significance Single submitter
NPC1 p.Cys967Phe Uncertain significance Single submitter
NPC1-related disorder
NPC1 p.Gln1046His Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Gln23His Uncertain significance Single submitter
NPC1 p.Gln397Arg Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Gln438Lys Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Gln811Arg Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Gln811Glu Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Gln953Arg Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Glu1166Lys Uncertain significance Single submitter
NPC1 p.Glu1188Gln Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Glu1188Lys Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Glu218Gln Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Glu320Lys Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Glu391Ala Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Glu575Gln Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Glu742Lys Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Glu805Gln Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Gly333Asp Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Gly46Asp Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Gly500Glu Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Gly535Val Uncertain significance Single submitter
NPC1 p.Gly65Val Uncertain significance Single submitter
NPC1 p.Gly673Val Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Gly729Glu Uncertain significance Single submitter
NPC1 p.Gly9Ser Uncertain significance Single submitter
Inborn genetic diseases
NPC1 p.His1016Pro Uncertain significance Single submitter
NPC1 p.His1029Arg Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.His1170Tyr Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.His492Arg Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.His497Arg Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.His530Arg Uncertain significance Single submitter
NPC1 p.Ile1025Thr Uncertain significance Single submitter
NPC1-related disorder
NPC1 p.Ile1052Thr Uncertain significance Single submitter
NPC1 p.Ile1095Val Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ile1099Val Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ile1126Leu Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ile1131Val Uncertain significance Single submitter
Niemann-Pick disease, type C1

Predictors split 306

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 306

NPC1 p.Ala1018Thr Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Ala1054Thr Pathogenic/Likely pathogenic Multiple submitters
Niemann-Pick disease type C
NPC1 p.Ala1187Val Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Ala165Asp Uncertain significance Multiple submitters
NPC1-related disorder
NPC1 p.Ala267Thr Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Ala449Val Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Ala558Thr Pathogenic/Likely pathogenic Multiple submitters
Niemann-Pick disease type C
NPC1 p.Ala851Thr Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Arg1183His Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Arg1272Cys Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Arg1272His Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Arg1274Trp Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Arg161Trp Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Arg337Gln Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Arg404Gln Pathogenic Multiple submitters
Niemann-Pick disease type C
NPC1 p.Arg615Cys Pathogenic/Likely pathogenic Multiple submitters
Niemann-Pick disease type C
NPC1 p.Arg646Cys Uncertain significance Multiple submitters
Inborn genetic diseases
NPC1 p.Arg714Cys Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Arg714His Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Arg794Trp Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Arg819Cys Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Arg819Ser Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Arg934Leu Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Asn1156Ser Pathogenic Multiple submitters
Niemann-Pick disease type C
NPC1 p.Asn185Asp Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Asn572Asp Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Asn598Ser Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Asn70Ser Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Asp128His Uncertain significance Multiple submitters
Inborn genetic diseases
NPC1 p.Asp898Asn Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Asp944Asn Pathogenic Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Gln92Arg Pathogenic Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Gln991His Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Glu1271Ala Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Glu1271Gln Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Glu1273Lys Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Glu30Val Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Gly1034Arg Pathogenic/Likely pathogenic Multiple submitters
Niemann-Pick disease type C
NPC1 p.Gly248Val Likely pathogenic Multiple submitters
Niemann-Pick disease type C
NPC1 p.His441Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
NPC1 p.Ile837Thr Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Ile858Val Benign Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Leu1055Met Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Leu783Phe Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Leu8Arg Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Met1069Val Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Met156Thr Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Met866Ile Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Met866Val Uncertain significance Multiple submitters
Inborn genetic diseases
NPC1 p.Phe68Leu Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Phe966Tyr Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Pro434Ser Benign/Likely benign Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Pro474Leu Pathogenic Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Pro981Leu Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Ser1020Thr Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Ser1200Gly Benign/Likely benign Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Ser300Cys Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Ser815Arg Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Ser826Pro Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Ser954Leu Pathogenic Multiple submitters
Niemann-Pick disease type C
NPC1 p.Thr362Asn Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Thr405Met Uncertain significance Multiple submitters
Inborn genetic diseases
NPC1 p.Trp291Cys Uncertain significance Multiple submitters
Inborn genetic diseases
NPC1 p.Tyr509Ser Pathogenic/Likely pathogenic Multiple submitters
Niemann-Pick disease type C
NPC1 p.Tyr56Cys Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Tyr570Cys Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Tyr571Cys Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Tyr882Cys Uncertain significance Multiple submitters
Inborn genetic diseases
NPC1 p.Val1212Met Likely pathogenic Multiple submitters
Niemann-Pick disease type C
NPC1 p.Val133Gly Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Val347Ile Uncertain significance Multiple submitters
Niemann-Pick disease, type C1
NPC1 p.Val950Gly Pathogenic/Likely pathogenic Multiple submitters
Niemann-Pick disease type C
NPC1 p.Val959Leu Uncertain significance Multiple submitters
Inborn genetic diseases
NPC1 p.Ala1018Val Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ala1058Thr Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ala1062Val Likely pathogenic Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ala1108Thr Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ala1132Thr Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ala1187Gly Conflicting Single submitter
dystonic disorder
NPC1 p.Ala1187Thr Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ala1216Val Likely pathogenic Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ala172Val Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ala181Asp Uncertain significance Single submitter
NPC1 p.Ala223Gly Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ala267Gly Uncertain significance Single submitter
NPC1 p.Ala470Pro Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ala558Ser Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ala582Asp Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Ala767Gly Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Arg1059Gln Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Arg1077Gln Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Arg1077Gly Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Arg1183Cys Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Arg1274Leu Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Arg296Gln Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Arg296Leu Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Arg296Trp Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Arg337Trp Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Arg341Cys Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Arg341Pro Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Arg348Gln Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Arg389Cys Conflicting Single submitter
Niemann-Pick disease type C
NPC1 p.Arg389Leu Likely pathogenic Single submitter
Niemann-Pick disease, type C1
NPC1 p.Arg411Trp Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Arg607Gln Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Arg615Gly Likely pathogenic Single submitter
Niemann-Pick disease, type C1
NPC1 p.Arg615Leu Likely pathogenic Single submitter
Niemann-Pick disease, type C1
NPC1 p.Arg646His Conflicting Single submitter
Inborn genetic diseases
NPC1 p.Arg78Trp Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Arg819His Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Arg997Ser Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asn1008His Uncertain significance Single submitter
NPC1 p.Asn1137Ser Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asn135His Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asn195Ile Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asn222Ser Conflicting Single submitter
Inborn genetic diseases
NPC1 p.Asn308His Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asn598His Uncertain significance Single submitter
Inborn genetic diseases
NPC1 p.Asn70Tyr Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asn961Asp Uncertain significance Single submitter
NPC1 p.Asp1097Asn Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asp1097Glu Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asp128Gly Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asp211Tyr Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asp232Gly Conflicting Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asp436Asn Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asp445Tyr Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asp508Asn Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asp57Asn Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asp712Tyr Likely pathogenic Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asp721Asn Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Asp832Val Uncertain significance Single submitter
NPC1 p.Cys16Tyr Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Gln1219Arg Uncertain significance Single submitter
NPC1 p.Gln136Arg Uncertain significance Single submitter
Inborn genetic diseases
NPC1 p.Gln252His Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Gln60His Conflicting Single submitter
Inborn genetic diseases
NPC1 p.Gln790Arg Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Glu1089Gln Likely pathogenic Single submitter
Niemann-Pick disease, type C1
NPC1 p.Glu110Gln Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Glu1273Gly Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Glu127Gln Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Glu451Lys Conflicting Single submitter
Niemann-Pick disease type C
NPC1 p.Glu586Lys Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Glu610Lys Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Glu814Lys Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Gly1012Asp Likely pathogenic Single submitter
Niemann-Pick disease, type C1
NPC1 p.Gly1034Glu Uncertain significance Single submitter
NPC1 p.Gly1146Ser Uncertain significance Single submitter
Niemann-Pick disease, type C1
NPC1 p.Gly216Arg Uncertain significance Single submitter
Niemann-Pick disease, type C1

All NPC1 variants

Pathogenic 243

c.1554-1009G>A Multiple submitters Niemann-Pick disease, type C1
c.2130+1G>A Multiple submitters Niemann-Pick disease, type C1
c.3477+1G>A Multiple submitters Niemann-Pick disease, type C1
c.3477+2T>C Multiple submitters Niemann-Pick disease, type C1
c.3591+1G>A Multiple submitters Niemann-Pick disease type C
p.Ala34fs Multiple submitters Niemann-Pick disease
p.Ala764Val Multiple submitters Niemann-Pick disease, type C1
p.Arg1059Ter Multiple submitters Niemann-Pick disease type C
p.Arg1077Ter Multiple submitters Niemann-Pick disease, type C1
p.Arg116Ter Multiple submitters Niemann-Pick disease, type C1
p.Arg404Gln Multiple submitters Niemann-Pick disease type C ⚠
p.Arg518Gln Multiple submitters Niemann-Pick disease type C ⚠
p.Arg607Ter Multiple submitters Inborn genetic diseases
p.Arg934Ter Multiple submitters Niemann-Pick disease type C
p.Arg958Ter Multiple submitters Niemann-Pick disease type C
p.Asn1156Ser Multiple submitters Niemann-Pick disease type C ⚠
p.Asn589Ter Multiple submitters Niemann-Pick disease, type C1
p.Asp325fs Multiple submitters Niemann-Pick disease type C
p.Asp501Tyr Multiple submitters Niemann-Pick disease type C
p.Asp944Asn Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Gln119fs Multiple submitters Niemann-Pick disease type C
p.Gln407Ter Multiple submitters Niemann-Pick disease, type C1
p.Gln421Ter Multiple submitters Niemann-Pick disease, type C1
p.Gln710fs Multiple submitters Niemann-Pick disease type C
p.Gln775Pro Multiple submitters Niemann-Pick disease type C
p.Gln921Ter Multiple submitters NPC1-related disorder
p.Gln92Arg Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Gln965Ter Multiple submitters Niemann-Pick disease, type C1
p.Gln991fs Multiple submitters Niemann-Pick disease, type C1
p.Glu1089Lys Multiple submitters Niemann-Pick disease, type C1
p.Glu1188Ter Multiple submitters Niemann-Pick disease, type C1
p.Glu895fs Multiple submitters Niemann-Pick disease, type C1
p.Gly1028fs Multiple submitters Niemann-Pick disease, type C1
p.Gly992Arg Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Ile1061Thr Multiple submitters lysosomal storage disease ⚠
p.Ile1094fs Multiple submitters Niemann-Pick disease, type C1
p.Ile1099fs Multiple submitters Niemann-Pick disease, type C1
p.Lys1206fs Multiple submitters NPC1-related disorder
p.Phe1221fs Multiple submitters Niemann-Pick disease type C
p.Pro1007Ala Multiple submitters NPC1-related disorder
p.Pro1007Leu Multiple submitters Niemann-Pick disease, type C1
p.Pro132fs Multiple submitters Niemann-Pick disease type C
p.Pro474Leu Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Pro543fs Multiple submitters Niemann-Pick disease, type C1
p.Pro543Leu Multiple submitters Niemann-Pick disease type C
p.Ser151fs Multiple submitters Niemann-Pick disease, type C1
p.Ser667Leu Multiple submitters Niemann-Pick disease, type C1
p.Ser738Ter Multiple submitters Niemann-Pick disease, type C1
p.Ser865Leu Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Ser954Leu Multiple submitters Niemann-Pick disease type C ⚠
p.Ser970fs Multiple submitters Niemann-Pick disease, type C1
p.Trp949Ter Multiple submitters Niemann-Pick disease, type C1
p.Tyr102Ter Multiple submitters Niemann-Pick disease, type C1
p.Val664Met Multiple submitters NPC1-related disorder
c.1553+1G>C Single submitter Niemann-Pick disease, type C1
c.1654+1dup Single submitter Niemann-Pick disease, type C1
c.1654+1G>A Single submitter Niemann-Pick disease, type C1
c.1757+1G>T Single submitter Niemann-Pick disease, type C1
c.1757+2_1757+3del Single submitter Niemann-Pick disease, type C1
c.1757+2T>G Single submitter Niemann-Pick disease, type C1
c.2130+1G>C Single submitter Niemann-Pick disease, type C1
c.2134_2135del Single submitter Niemann-Pick disease, type C1
c.2374-1G>A Single submitter Niemann-Pick disease, type C1
c.2604+2T>G Single submitter Niemann-Pick disease, type C1
c.2795+1G>C Single submitter Niemann-Pick disease, type C1
c.3003_3041+24del Single submitter Niemann-Pick disease, type C1
c.3041+1G>T Single submitter Niemann-Pick disease, type C1
c.3245+1G>T Single submitter Niemann-Pick disease, type C1
c.3249_3250del Single submitter Niemann-Pick disease, type C1
c.3591+2T>A Single submitter Niemann-Pick disease, type C1
c.3591+2T>C Single submitter Niemann-Pick disease, type C1
c.3591+2T>G Single submitter Niemann-Pick disease, type C1
c.881+1G>T Single submitter Niemann-Pick disease, type C1
p.Ala1108fs Single submitter Niemann-Pick disease, type C1
p.Ala1187fs Single submitter Niemann-Pick disease, type C1
p.Ala289fs Single submitter Niemann-Pick disease, type C1
p.Ala764Glu Single submitter Niemann-Pick disease, type C2
p.Ala927Gly Single submitter Niemann-Pick disease, type C1 ⚠
p.Arg1032fs Single submitter Niemann-Pick disease, type C1
p.Arg1173fs Single submitter Niemann-Pick disease, type C1
p.Arg615fs Single submitter Niemann-Pick disease, type C1
p.Arg726fs Single submitter Niemann-Pick disease, type C1
p.Arg989fs Single submitter Niemann-Pick disease, type C1
p.Asn1101fs Single submitter Niemann-Pick disease, type C1
p.Asn308fs Single submitter Niemann-Pick disease, type C1
p.Asn925fs Single submitter Niemann-Pick disease, type C1
p.Asp700fs Single submitter Niemann-Pick disease, type C1
p.Asp960fs Single submitter Niemann-Pick disease, type C1
p.Asp994fs Single submitter Niemann-Pick disease, type C1
p.Cys1011_Lys1013delinsTer Single submitter Niemann-Pick disease, type C1
p.Cys227Ter Single submitter Niemann-Pick disease, type C1
p.Cys247fs Single submitter Niemann-Pick disease, type C1
p.Cys670fs Single submitter Niemann-Pick disease, type C1
p.Cys914Ser Single submitter Niemann-Pick disease, type C1
p.Gln1046fs Single submitter Niemann-Pick disease, type C1
p.Gln117Ter Single submitter Niemann-Pick disease, type C1
p.Gln136fs Single submitter Niemann-Pick disease, type C1
p.Gln252fs Single submitter Niemann-Pick disease, type C1
p.Gln421fs Single submitter Niemann-Pick disease, type C1
p.Gln447Ter Single submitter Niemann-Pick disease, type C1
p.Gln581fs Single submitter Niemann-Pick disease, type C1
p.Gln60Ter Single submitter Niemann-Pick disease, type C1
p.Gln775Ter Single submitter Niemann-Pick disease, type C1
p.Gln811Ter Single submitter Niemann-Pick disease, type C1
p.Gln881Ter Single submitter Niemann-Pick disease, type C1
p.Gln928Ter Single submitter Niemann-Pick disease, type C1
p.Gln92Ter Single submitter Niemann-Pick disease, type C1
p.Gln953fs Single submitter Niemann-Pick disease, type C1
p.Glu143fs Single submitter Niemann-Pick disease, type C1
p.Glu218fs Single submitter Niemann-Pick disease, type C1
p.Glu391Ter Single submitter Niemann-Pick disease, type C1
p.Glu393fs Single submitter Niemann-Pick disease, type C1
p.Glu713fs Single submitter Niemann-Pick disease, type C1
p.Glu895Ter Single submitter Niemann-Pick disease, type C1
p.Gly1181fs Single submitter Niemann-Pick disease, type C1
p.Gly285fs Single submitter Niemann-Pick disease, type C1
p.Gly29Ter Single submitter Niemann-Pick disease, type C1
p.Gly343Glu Single submitter Niemann-Pick disease, type C1
p.Gly500fs Single submitter Niemann-Pick disease, type C1
p.Gly548Glu Single submitter Niemann-Pick disease, type C1
p.Gly844fs Single submitter Niemann-Pick disease, type C1
p.Gly910fs Single submitter Niemann-Pick disease, type C1
p.Gly993fs Single submitter Niemann-Pick disease, type C1
p.Gly9fs Single submitter Niemann-Pick disease, type C1
p.His1029fs Single submitter Niemann-Pick disease, type C1
p.His215fs Single submitter Niemann-Pick disease, type C1
p.Ile1220fs Single submitter Niemann-Pick disease, type C1
p.Ile33fs Single submitter Niemann-Pick disease, type C1
p.Ile601fs Single submitter Niemann-Pick disease, type C1
p.Leu1116fs Single submitter Niemann-Pick disease, type C1
p.Leu1117fs Single submitter Niemann-Pick disease type C
p.Leu1154_Leu1157del Single submitter Niemann-Pick disease, type C1
p.Leu1154fs Single submitter Niemann-Pick disease, type C1
p.Leu1230fs Single submitter Niemann-Pick disease, type C1
p.Leu1247fs Single submitter Niemann-Pick disease, type C1
p.Leu176fs Single submitter
p.Leu368fs Single submitter Niemann-Pick disease, type C1
p.Leu414fs Single submitter Niemann-Pick disease, type C1
p.Leu469fs Single submitter Niemann-Pick disease, type C1
p.Leu680fs Single submitter Niemann-Pick disease, type C1
p.Leu693fs Single submitter Niemann-Pick disease, type C1
p.Leu720fs Single submitter Niemann-Pick disease, type C1
p.Leu724fs Single submitter Niemann-Pick disease, type C1
p.Leu766Ter Single submitter Niemann-Pick disease, type C1
p.Leu773fs Single submitter Niemann-Pick disease, type C1
p.Leu80fs Single submitter Niemann-Pick disease, type C1
p.Leu829fs Single submitter Niemann-Pick disease, type C1
p.Leu83fs Single submitter Niemann-Pick disease, type C1
p.Leu846fs Single submitter Niemann-Pick disease, type C1
p.Leu864fs Single submitter Niemann-Pick disease, type C1
p.Leu883fs Single submitter Niemann-Pick disease, type C1
p.Lys1010fs Single submitter Niemann-Pick disease, type C1
p.Lys142fs Single submitter
p.Lys250fs Single submitter Niemann-Pick disease, type C1
p.Lys417fs Single submitter Niemann-Pick disease, type C1
p.Lys49Ter Single submitter Niemann-Pick disease, type C1
p.Lys585fs Single submitter Niemann-Pick disease, type C1
p.Lys822fs Single submitter Niemann-Pick disease, type C1
p.Lys987fs Single submitter Niemann-Pick disease, type C1
p.Met1_Leu6del Single submitter Niemann-Pick disease, type C1
p.Met1001fs Single submitter Niemann-Pick disease, type C1
p.Met1142Ile Single submitter Niemann-Pick disease, type C1
p.Met907fs Single submitter Niemann-Pick disease, type C1
p.Met912fs Single submitter Niemann-Pick disease, type C1
p.Phe1051fs Single submitter Niemann-Pick disease, type C1
p.Phe1199fs Single submitter Niemann-Pick disease, type C1
p.Phe1215fs Single submitter Niemann-Pick disease, type C1
p.Phe1224Leu Single submitter Niemann-Pick disease, type C1
p.Phe1226fs Single submitter Niemann-Pick disease, type C1
p.Phe284fs Single submitter Niemann-Pick disease, type C1
p.Phe288fs Single submitter Niemann-Pick disease, type C1
p.Phe345fs Single submitter Niemann-Pick disease, type C1
p.Phe356fs Single submitter
p.Phe395fs Single submitter Niemann-Pick disease, type C1
p.Phe402fs Single submitter Niemann-Pick disease, type C1
p.Phe542fs Single submitter Niemann-Pick disease, type C1
p.Phe590fs Single submitter Niemann-Pick disease, type C1
p.Phe763fs Single submitter Niemann-Pick disease, type C1
p.Phe779fs Single submitter Niemann-Pick disease, type C1
p.Pro1009fs Single submitter Niemann-Pick disease, type C1
p.Pro1080fs Single submitter Niemann-Pick disease, type C1
p.Pro255fs Single submitter Niemann-Pick disease, type C1
p.Pro401Thr Single submitter Niemann-Pick disease, type C1 ⚠
p.Pro540fs Single submitter Niemann-Pick disease, type C1
p.Pro888Ser Single submitter Niemann-Pick disease, type C1
p.Ser118fs Single submitter Niemann-Pick disease, type C1
p.Ser22Ter Single submitter Niemann-Pick disease, type C1
p.Ser366Ter Single submitter Niemann-Pick disease, type C1
p.Ser385fs Single submitter Niemann-Pick disease, type C1
p.Ser456_Tyr457insTer Single submitter Niemann-Pick disease, type C1
p.Ser473fs Single submitter Niemann-Pick disease, type C1
p.Ser473Ter Single submitter Niemann-Pick disease, type C1
p.Ser636fs Single submitter Niemann-Pick disease, type C1
p.Ser870Thr Single submitter Niemann-Pick disease, type C1 ⚠
p.Ser941_Trp942insTer Single submitter Niemann-Pick disease, type C1
p.Thr1205fs Single submitter Niemann-Pick disease, type C1
p.Thr124fs Single submitter Niemann-Pick disease, type C1
p.Thr139fs Single submitter Niemann-Pick disease, type C1
p.Thr206fs Single submitter Niemann-Pick disease, type C1
p.Thr362fs Single submitter Niemann-Pick disease, type C1
p.Thr454fs Single submitter Niemann-Pick disease, type C1
p.Thr480fs Single submitter Niemann-Pick disease, type C1
p.Thr511fs Single submitter Niemann-Pick disease, type C1
p.Trp27Ter Single submitter Niemann-Pick disease, type C1
p.Trp342Ter Single submitter Niemann-Pick disease, type C1
p.Trp381Ter Single submitter Niemann-Pick disease, type C1
p.Trp544Ter Single submitter Niemann-Pick disease, type C1
p.Trp583fs Single submitter Niemann-Pick disease, type C1
p.Trp833Ter Single submitter Niemann-Pick disease, type C1
p.Trp942fs Single submitter Niemann-Pick disease, type C1
p.Tyr1037fs Single submitter Niemann-Pick disease, type C1
p.Tyr1041Ter Single submitter Niemann-Pick disease, type C1
p.Tyr1081Ter Single submitter Niemann-Pick disease type C
p.Tyr1085fs Single submitter Niemann-Pick disease, type C1
p.Tyr423Ter Single submitter Niemann-Pick disease, type C1
p.Tyr457fs Single submitter Niemann-Pick disease, type C1
p.Tyr487fs Single submitter
p.Tyr571fs Single submitter Niemann-Pick disease type C
p.Tyr871fs Single submitter Niemann-Pick disease, type C1
p.Val1023Gly Single submitter Niemann-Pick disease, type C1
p.Val1104fs Single submitter Niemann-Pick disease, type C1
p.Val1246fs Single submitter Niemann-Pick disease, type C1
p.Val231fs Single submitter Niemann-Pick disease, type C1
p.Val299fs Single submitter Niemann-Pick disease, type C1
p.Val327fs Single submitter Niemann-Pick disease, type C1
p.Val371fs Single submitter Niemann-Pick disease, type C1
p.Val378fs Single submitter Niemann-Pick disease, type C1
p.Val484fs Single submitter Niemann-Pick disease, type C1
p.Val674fs Single submitter Niemann-Pick disease, type C1
p.Val699fs Single submitter Niemann-Pick disease, type C1
p.Val889fs Single submitter Niemann-Pick disease, type C1
p.Arg726Thr No assertion criteria Niemann-Pick disease, type C1
p.Asn140fs No assertion criteria Niemann-Pick disease, type C1
p.Asp501Val No assertion criteria Niemann-Pick disease, type C1
p.Asp611Gly No assertion criteria Niemann-Pick disease, type C1
p.Gln710Ter No assertion criteria Niemann-Pick disease, type C1
p.Gln928Pro No assertion criteria Niemann-Pick disease, type C1 ⚠
p.Glu1188fs No assertion criteria Niemann-Pick disease, type C1
p.Ser344fs No assertion criteria Niemann-Pick disease, type C1
p.Thr1043Ala No assertion criteria Niemann-Pick disease, type C1 ⚠
p.Tyr932Ter No assertion criteria Niemann-Pick disease, type C1
p.Val768fs No assertion criteria Niemann-Pick disease, type C1
p.Val889Met No assertion criteria Niemann-Pick disease, type C1, adult form ⚠

Pathogenic/Likely pathogenic 105

c.1757_1757+1del Multiple submitters Niemann-Pick disease, type C1
c.1947+5G>C Multiple submitters NPC1-related disorder
c.2245+1G>A Multiple submitters Niemann-Pick disease, type C1
c.2246-2A>G Multiple submitters Niemann-Pick disease, type C1
c.2515-2A>G Multiple submitters Niemann-Pick disease, type C1
c.2604+1G>A Multiple submitters Niemann-Pick disease, type C1
c.2604+5G>A Multiple submitters Niemann-Pick disease, type C1
c.3246-2A>G Multiple submitters Niemann-Pick disease, type C1
c.3591+2dup Multiple submitters Niemann-Pick disease, type C1
c.464-2A>C Multiple submitters Niemann-Pick disease type C
p.Ala1035Val Multiple submitters Niemann-Pick disease, type C1
p.Ala1054Thr Multiple submitters Niemann-Pick disease type C ⚠
p.Ala1151Thr Multiple submitters Niemann-Pick disease type C
p.Ala1192fs Multiple submitters Niemann-Pick disease type C
p.Ala558Thr Multiple submitters Niemann-Pick disease type C ⚠
p.Ala696fs Multiple submitters Niemann-Pick disease, type C1
p.Ala926Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala926Val Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Ala927Val Multiple submitters Inborn genetic diseases ⚠
p.Arg1186His Multiple submitters Niemann-Pick disease type C
p.Arg341fs Multiple submitters Niemann-Pick disease, type C1
p.Arg348Ter Multiple submitters Niemann-Pick disease, type C1
p.Arg372Trp Multiple submitters Niemann-Pick disease type C ⚠
p.Arg404Trp Multiple submitters Niemann-Pick disease type C
p.Arg518Trp Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Arg615Cys Multiple submitters Niemann-Pick disease type C ⚠
p.Arg789Cys Multiple submitters Niemann-Pick disease, type C1
p.Arg934Gln Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Arg958Gln Multiple submitters NPC1-related disorder ⚠
p.Arg978Cys Multiple submitters Niemann-Pick disease type C ⚠
p.Asn1137fs Multiple submitters Niemann-Pick disease, type C1
p.Asn1156Ile Multiple submitters Niemann-Pick disease, type C1
p.Asn169Ile Multiple submitters Niemann-Pick disease, type C1
p.Asn968Ser Multiple submitters Niemann-Pick disease type C ⚠
p.Asp712Asn Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Asp874Val Multiple submitters Inborn genetic diseases ⚠
p.Asp945Asn Multiple submitters Niemann-Pick disease, type C1
p.Asp948Asn Multiple submitters Niemann-Pick disease type C
p.Cys113Arg Multiple submitters Niemann-Pick disease type C
p.Cys1168Tyr Multiple submitters Niemann-Pick disease, type C1
p.Cys177Tyr Multiple submitters Inborn genetic diseases
p.Cys976Ter Multiple submitters Niemann-Pick disease, type C1
p.Gln145Ter Multiple submitters Niemann-Pick disease, type C1
p.Gln23fs Multiple submitters
p.Gln241Ter Multiple submitters Niemann-Pick disease, type C1
p.Gln438Ter Multiple submitters Niemann-Pick disease, type C1
p.Gln716Ter Multiple submitters Niemann-Pick disease, type C1
p.Gln905Ter Multiple submitters Niemann-Pick disease, type C1
p.Glu1166Ter Multiple submitters Niemann-Pick disease, type C1
p.Glu1189Gly Multiple submitters Niemann-Pick disease type C ⚠
p.Glu612Asp Multiple submitters Niemann-Pick disease, type C1
p.Glu61Ter Multiple submitters Niemann-Pick disease, type C1
p.Glu985fs Multiple submitters Niemann-Pick disease, type C1
p.Gly1015Val Multiple submitters Niemann-Pick disease, type C1
p.Gly1034Arg Multiple submitters Niemann-Pick disease type C ⚠
p.Gly640Arg Multiple submitters Niemann-Pick disease, type C1
p.Gly910Ser Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Gly992Ala Multiple submitters Niemann-Pick disease type C ⚠
p.His641fs Multiple submitters Niemann-Pick disease, type C1
p.Ile1109fs Multiple submitters Niemann-Pick disease, type C1
p.Leu1204fs Multiple submitters NPC1-related disorder
p.Leu1213Val Multiple submitters Niemann-Pick disease, type C1
p.Leu1248fs Multiple submitters Niemann-Pick disease type C
p.Leu58Ter Multiple submitters Niemann-Pick disease, type C1
p.Leu724Pro Multiple submitters Niemann-Pick disease type C
p.Met1001Val Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Met1127fs Multiple submitters Niemann-Pick disease, type C1
p.Met1138fs Multiple submitters Niemann-Pick disease, type C1
p.Met1142Thr Multiple submitters Niemann-Pick disease, type C1
p.Met1Ile Multiple submitters Niemann-Pick disease, type C1
p.Phe1087Leu Multiple submitters Niemann-Pick disease type C
p.Phe1167Cys Multiple submitters Niemann-Pick disease, type C1
p.Phe760del Multiple submitters Niemann-Pick disease type C
p.Phe842Leu Multiple submitters Niemann-Pick disease, type C1
p.Pro434Leu Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Pro471Leu Multiple submitters Niemann-Pick disease, type C1
p.Pro691Ala Multiple submitters Niemann-Pick disease type C
p.Pro691Leu Multiple submitters Niemann-Pick disease, type C1
p.Pro733fs Multiple submitters Niemann-Pick disease, type C1
p.Pro887Leu Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Ser617fs Multiple submitters Niemann-Pick disease, type C1
p.Ser652Trp Multiple submitters NPC1-related disorder
p.Ser734Ile Multiple submitters Niemann-Pick disease type C
p.Ser940Leu Multiple submitters Niemann-Pick disease type C ⚠
p.Thr1036Ala Multiple submitters Niemann-Pick disease type C ⚠
p.Thr1205Arg Multiple submitters Niemann-Pick disease type C
p.Thr1205Lys Multiple submitters Niemann-Pick disease type C
p.Thr375Ala Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Trp381fs Multiple submitters Niemann-Pick disease, type C1
p.Tyr1019Cys Multiple submitters Niemann-Pick disease, type C1
p.Tyr1085Ter Multiple submitters Niemann-Pick disease, type C1
p.Tyr1088Cys Multiple submitters Niemann-Pick disease, type C1
p.Tyr509Ser Multiple submitters Niemann-Pick disease type C ⚠
p.Tyr634Cys Multiple submitters Niemann-Pick disease type C
p.Tyr634Phe Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Tyr825Cys Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Tyr890Ter Multiple submitters Niemann-Pick disease type C
p.Val1141Gly Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Val1212Leu Multiple submitters Niemann-Pick disease type C
p.Val378Ala Multiple submitters Niemann-Pick disease type C ⚠
p.Val727fs Multiple submitters Niemann-Pick disease, type C1
p.Val950Gly Multiple submitters Niemann-Pick disease type C ⚠
p.Val950Met Multiple submitters Niemann-Pick disease, type C1 ⚠
c.3042-2del No assertion criteria Niemann-Pick disease, type C1, adult form
p.Val744fs No assertion criteria Niemann-Pick disease, type C1

Likely pathogenic 258

c.1757+1G>A Multiple submitters Niemann-Pick disease, type C1
c.2911+1G>A Multiple submitters Niemann-Pick disease, type C1
c.956-1G>A Multiple submitters Niemann-Pick disease, type C1
c.956-2A>G Multiple submitters Niemann-Pick disease, type C1
p.Arg615His Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Arg789Gly Multiple submitters Niemann-Pick disease, type C1
p.Arg978Ser Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Cys63Arg Multiple submitters Niemann-Pick disease, type C1
p.Gly1240Arg Multiple submitters Niemann-Pick disease, type C1
p.Gly248Val Multiple submitters Niemann-Pick disease type C ⚠
p.His512Tyr Multiple submitters Niemann-Pick disease, type C1
p.Ile1052del Multiple submitters Niemann-Pick disease, type C1
p.Leu1213Phe Multiple submitters Niemann-Pick disease type C
p.Leu1244Pro Multiple submitters Niemann-Pick disease, type C1
p.Phe203fs Multiple submitters Niemann-Pick disease, type C1
p.Phe703Ser Multiple submitters Niemann-Pick disease, type C1
p.Pro691Gln Multiple submitters Niemann-Pick disease
p.Pro90Arg Multiple submitters Niemann-Pick disease type C
p.Ser1197Phe Multiple submitters Niemann-Pick disease, type C1
p.Ser734Gly Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Trp1145Arg Multiple submitters Niemann-Pick disease, type C1
p.Val1212Met Multiple submitters Niemann-Pick disease type C ⚠
c.1326+1G>A Single submitter Niemann-Pick disease, type C1
c.1326+1G>T Single submitter Niemann-Pick disease, type C1
c.1327-2dup Single submitter Niemann-Pick disease, type C1
c.1758-3_1761del Single submitter Niemann-Pick disease, type C1
c.180+1G>C Single submitter Niemann-Pick disease, type C1
c.180+1G>T Single submitter Niemann-Pick disease, type C1
c.1947+2T>G Single submitter Niemann-Pick disease, type C1
c.2246-1G>A Single submitter Niemann-Pick disease, type C1
c.2373+7T>C Single submitter Niemann-Pick disease type A
c.2514+1G>A Single submitter Niemann-Pick disease, type C1
c.2795+56C>T Single submitter Niemann-Pick disease, type C1
c.2796-2A>T Single submitter Niemann-Pick disease, type C1
c.2911+2del Single submitter Niemann-Pick disease, type C1
c.2912-2A>C Single submitter Niemann-Pick disease, type C1
c.3041+2del Single submitter Niemann-Pick disease, type C1
c.3042-1G>A Single submitter Niemann-Pick disease, type C1
c.3042-2_3042-1del Single submitter Niemann-Pick disease, type C1
c.3243_3755-94del Single submitter Niemann-Pick disease type C
c.3478-1G>C Single submitter Niemann-Pick disease, type C1
c.3591+1_3591+7delinsTCTT Single submitter
c.3591+121C>T Single submitter Niemann-Pick disease, type C1
c.3592-7_3592-3del Single submitter NPC1-related disorder
c.3754+1del Single submitter Inborn genetic diseases
c.463+1G>A Single submitter Niemann-Pick disease, type C1
c.463+2T>G Single submitter Niemann-Pick disease, type C1
c.57+1G>A Single submitter Niemann-Pick disease, type C1
c.631+1G>T Single submitter Niemann-Pick disease, type C1
c.631+2T>C Single submitter Niemann-Pick disease, type C1
c.881+1G>A Single submitter Niemann-Pick disease, type C1
c.881+2T>C Single submitter Niemann-Pick disease, type C1
c.882-2A>G Single submitter Niemann-Pick disease, type C1
c.955+1G>A Single submitter Niemann-Pick disease type C
c.955+2_955+5del Single submitter Niemann-Pick disease, type C1
c.956-1G>T Single submitter Niemann-Pick disease, type C1
p.Ala1022Glu Single submitter
p.Ala1062Val Single submitter Niemann-Pick disease, type C1 ⚠
p.Ala1151Ser Single submitter Niemann-Pick disease, type C1 ⚠
p.Ala1174Val Single submitter Niemann-Pick disease, type C1 ⚠
p.Ala1216Val Single submitter Niemann-Pick disease, type C1 ⚠
p.Ala315fs Single submitter Niemann-Pick disease, type C1
p.Ala764Ser Single submitter Niemann-Pick disease, type C1 ⚠
p.Ala812fs Single submitter Niemann-Pick disease, type C1
p.Ala840Glu Single submitter Niemann-Pick disease, type C1
p.Arg1186Leu Single submitter Niemann-Pick disease, type C1
p.Arg372fs Single submitter Niemann-Pick disease, type C1
p.Arg389His Single submitter Niemann-Pick disease, type C1 ⚠
p.Arg389Leu Single submitter Niemann-Pick disease, type C1 ⚠
p.Arg615Gly Single submitter Niemann-Pick disease, type C1 ⚠
p.Arg615Leu Single submitter Niemann-Pick disease, type C1 ⚠
p.Arg615Ser Single submitter Niemann-Pick disease, type C1
p.Arg958Gly Single submitter Niemann-Pick disease type C
p.Asn1006fs Single submitter Niemann-Pick disease, type C1
p.Asn106fs Single submitter Niemann-Pick disease, type C1
p.Asn1150Lys Single submitter Niemann-Pick disease, type C1
p.Asn158fs Single submitter Niemann-Pick disease, type C1
p.Asn478Thr Single submitter Niemann-Pick disease, type C1 ⚠
p.Asn589fs Single submitter Niemann-Pick disease, type C1
p.Asn701Lys Single submitter
p.Asn916del Single submitter Niemann-Pick disease, type C1
p.Asn961_Phe966delinsSer Single submitter Niemann-Pick disease, type C1
p.Asp1097del Single submitter Niemann-Pick disease, type C1
p.Asp131fs Single submitter Niemann-Pick disease, type C1
p.Asp54fs Single submitter Niemann-Pick disease, type C1
p.Asp611_Glu612del Single submitter Niemann-Pick disease, type C1
p.Asp712Tyr Single submitter Niemann-Pick disease, type C1 ⚠
p.Asp874Tyr Single submitter Niemann-Pick disease, type C1 ⚠
p.Asp917fs Single submitter Niemann-Pick disease, type C1
p.Asp948Glu Single submitter Niemann-Pick disease, type C1
p.Cys100fs Single submitter Niemann-Pick disease, type C1
p.Cys109fs Single submitter Niemann-Pick disease, type C1
p.Cys109Ter Single submitter Niemann-Pick disease, type C1
p.Cys113Ter Single submitter Niemann-Pick disease, type C1
p.Cys113Tyr Single submitter Niemann-Pick disease, type C1
p.Cys1168Gly Single submitter Niemann-Pick disease, type C1 ⚠
p.Cys177Arg Single submitter Niemann-Pick disease, type C1
p.Cys240fs Single submitter Niemann-Pick disease, type C1
p.Cys25Ter Single submitter Niemann-Pick disease, type C1
p.Cys364Ter Single submitter Niemann-Pick disease, type C1
p.Cys468Arg Single submitter Niemann-Pick disease, type C1
p.Cys479Ser Single submitter Niemann-Pick disease, type C1
p.Cys63Ser Single submitter Niemann-Pick disease, type C1
p.Cys63Tyr Single submitter Niemann-Pick disease, type C1
p.Cys914Ter Single submitter Niemann-Pick disease, type C1
p.Cys957Ser Single submitter NPC1-related disorder
p.Cys957Ter Single submitter Niemann-Pick disease, type C1
p.Cys967Ter Single submitter Niemann-Pick disease, type C1
p.Cys976Arg Single submitter Niemann-Pick disease, type C1
p.Gln1046Ter Single submitter Niemann-Pick disease, type C1
p.Gln117Arg Single submitter Niemann-Pick disease, type C1
p.Gln1219Ter Single submitter Niemann-Pick disease, type C1
p.Gln397Ter Single submitter Niemann-Pick disease, type C1
p.Gln578fs Single submitter Niemann-Pick disease, type C1
p.Gln905fs Single submitter Niemann-Pick disease, type C1
p.Gln953Ter Single submitter Niemann-Pick disease, type C1
p.Glu1089Gln Single submitter Niemann-Pick disease, type C1 ⚠
p.Glu1089Gly Single submitter Niemann-Pick disease, type C1
p.Glu1185Ter Single submitter Niemann-Pick disease, type C1
p.Glu127fs Single submitter Niemann-Pick disease, type C1
p.Glu301Ter Single submitter Niemann-Pick disease, type C1
p.Glu30Ter Single submitter Niemann-Pick disease, type C1
p.Gly1012Asp Single submitter Niemann-Pick disease, type C1 ⚠
p.Gly1140Val Single submitter Niemann-Pick disease, type C1
p.Gly1146fs Single submitter Niemann-Pick disease, type C1
p.Gly1162Ala Single submitter Niemann-Pick disease type C
p.Gly1208Ter Single submitter Niemann-Pick disease, type C1
p.Gly1252Arg Single submitter Niemann-Pick disease, type C1
p.Gly178Arg Single submitter Niemann-Pick disease, type C1
p.Gly319Ter Single submitter Niemann-Pick disease, type C1
p.Gly343Ala Single submitter Niemann-Pick disease, type C1 ⚠
p.Gly538Arg Single submitter Niemann-Pick disease, type C1
p.Gly539Arg Single submitter Niemann-Pick disease, type C1
p.Gly548Ter Single submitter Niemann-Pick disease, type C1
p.Gly679fs Single submitter Niemann-Pick disease, type C1
p.Gly698Ter Single submitter Niemann-Pick disease, type C1
p.Gly725fs Single submitter Niemann-Pick disease, type C1
p.Gly859Ter Single submitter Niemann-Pick disease, type C1
p.His530Tyr Single submitter Niemann-Pick disease, type C1 ⚠
p.His897fs Single submitter Niemann-Pick disease, type C1
p.Ile1061fs Single submitter Niemann-Pick disease, type C1
p.Ile1095del Single submitter Niemann-Pick disease, type C1
p.Ile205fs Single submitter Niemann-Pick disease, type C1
p.Ile450fs Single submitter Niemann-Pick disease, type C1
p.Ile685Leu Single submitter Niemann-Pick disease, type C1 ⚠
p.Ile685Thr Single submitter Niemann-Pick disease type C
p.Ile841Lys Single submitter Niemann-Pick disease, type C1
p.Leu1121fs Single submitter Niemann-Pick disease, type C1
p.Leu1157fs Single submitter Niemann-Pick disease, type C1
p.Leu1191Val Single submitter Niemann-Pick disease, type C1 ⚠
p.Leu11fs Single submitter Niemann-Pick disease, type C1
p.Leu144fs Single submitter Niemann-Pick disease, type C1
p.Leu280fs Single submitter Niemann-Pick disease, type C1
p.Leu446Ter Single submitter Niemann-Pick disease, type C1
p.Leu472Pro Single submitter Niemann-Pick disease, type C1
p.Leu485_Asn486del Single submitter Niemann-Pick disease, type C1
p.Leu523fs Single submitter Niemann-Pick disease, type C1
p.Leu682fs Single submitter Niemann-Pick disease, type C1
p.Leu684Phe Single submitter dystonic disorder ⚠
p.Leu715fs Single submitter NPC1-related disorder
p.Leu795fs Single submitter Niemann-Pick disease, type C1
p.Leu860Ter Single submitter Niemann-Pick disease, type C1
p.Lys171fs Single submitter Niemann-Pick disease, type C1
p.Lys196Ter Single submitter Niemann-Pick disease, type C1
p.Lys38_Tyr40del Single submitter Niemann-Pick disease, type C1
p.Met1194Thr Single submitter Niemann-Pick disease, type C1 ⚠
p.Met156Lys Single submitter Niemann-Pick disease, type C1
p.Met268_Tyr269insLeu Single submitter Niemann-Pick disease, type C1
p.Met866Thr Single submitter Niemann-Pick disease, type C1
p.Phe1224Cys Single submitter
p.Phe431fs Single submitter Niemann-Pick disease, type C1
p.Phe504del Single submitter Niemann-Pick disease, type C1
p.Phe692fs Single submitter Niemann-Pick disease, type C1
p.Phe703Ile Single submitter Niemann-Pick disease, type C1
p.Phe763Leu Single submitter Niemann-Pick disease, type C1
p.Phe842Ser Single submitter Niemann-Pick disease, type C1
p.Phe995Leu Single submitter Abnormality of metabolism/homeostasis
p.Pro1245fs Single submitter Niemann-Pick disease, type C1
p.Pro166His Single submitter Niemann-Pick disease, type C1
p.Pro166Leu Single submitter Niemann-Pick disease, type C1 ⚠
p.Pro249Ser Single submitter Niemann-Pick disease, type C1 ⚠
p.Pro474Ala Single submitter Niemann-Pick disease, type C1 ⚠
p.Pro540Arg Single submitter Niemann-Pick disease, type C1
p.Pro543Ser Single submitter Niemann-Pick disease, type C1 ⚠
p.Pro691Ser Single submitter Niemann-Pick disease, type C1
p.Ser1048fs Single submitter Niemann-Pick disease, type C1
p.Ser1082Arg Single submitter Niemann-Pick disease, type C1
p.Ser1105Tyr Single submitter Niemann-Pick disease, type C1
p.Ser114delinsMetTer Single submitter Niemann-Pick disease, type C1
p.Ser1164Pro Single submitter Niemann-Pick disease, type C1
p.Ser1169Arg Single submitter Niemann-Pick disease, type C1
p.Ser167Leu Single submitter Niemann-Pick disease, type C1 ⚠
p.Ser357Ter Single submitter Niemann-Pick disease, type C1
p.Ser644fs Single submitter Niemann-Pick disease, type C1
p.Ser666fs Single submitter Niemann-Pick disease, type C1
p.Ser676Ile Single submitter Niemann-Pick disease, type C1
p.Ser734Cys Single submitter Niemann-Pick disease, type C1 ⚠
p.Ser815fs Single submitter Niemann-Pick disease, type C1
p.Ser849Ile Single submitter
p.Ser865Pro Single submitter Niemann-Pick disease, type C1
p.Ser865Thr Single submitter Niemann-Pick disease, type C1 ⚠
p.Ser940fs Single submitter Niemann-Pick disease, type C1
p.Ser940Pro Single submitter Niemann-Pick disease, type C1
p.Thr1036Lys Single submitter Niemann-Pick disease, type C1
p.Thr1036Ser Single submitter Niemann-Pick disease, type C1 ⚠
p.Thr1093fs Single submitter Niemann-Pick disease, type C1
p.Thr1172fs Single submitter Niemann-Pick disease, type C1
p.Thr1205Ile Single submitter Niemann-Pick disease, type C1
p.Trp1145Cys Single submitter Niemann-Pick disease, type C1
p.Trp273Ter Single submitter
p.Trp291Ter Single submitter Niemann-Pick disease, type C1
p.Trp583Gly Single submitter Niemann-Pick disease, type C1
p.Trp942Cys Single submitter Niemann-Pick disease, type C1
p.Trp942Ter Single submitter Niemann-Pick disease, type C1
p.Tyr1091Ter Single submitter Niemann-Pick disease, type C1
p.Tyr1229_Leu1235delinsTer Single submitter Niemann-Pick disease, type C1
p.Tyr302Ter Single submitter Niemann-Pick disease, type C1
p.Tyr394Ter Single submitter Niemann-Pick disease, type C1
p.Tyr457Ter Single submitter Niemann-Pick disease, type C1
p.Tyr594del Single submitter Niemann-Pick disease, type C1
p.Tyr628Ser Single submitter
p.Tyr875Ter Single submitter Niemann-Pick disease, type C1
p.Tyr899His Single submitter Niemann-Pick disease, type C1
p.Val1078fs Single submitter Niemann-Pick disease, type C1
p.Val1125fs Single submitter Niemann-Pick disease, type C1
p.Val378Phe Single submitter Niemann-Pick disease type A ⚠
p.Val429Gly Single submitter Niemann-Pick disease, type C1 ⚠
p.Val517Glu Single submitter Niemann-Pick disease, type C1 ⚠
p.Val664Leu Single submitter Niemann-Pick disease, type C1
p.Val694fs Single submitter Niemann-Pick disease, type C1
p.Val780fs Single submitter
p.Val845fs Single submitter Niemann-Pick disease, type C1
p.Val892fs Single submitter Niemann-Pick disease, type C1
p.Val920Met Single submitter Niemann-Pick disease, type C1 ⚠
c.1327-1G>A No assertion criteria Niemann-Pick disease, type C1
c.1327-1G>C No assertion criteria Niemann-Pick disease, type C1
c.1947+1G>A No assertion criteria Niemann-Pick disease, type C1
c.1947+2T>A No assertion criteria Niemann-Pick disease, type C1
c.1948-1G>A No assertion criteria Niemann-Pick disease, type C1
c.1948-2A>T No assertion criteria Niemann-Pick disease, type C1
c.2131-2_2131del No assertion criteria Niemann-Pick disease, type C1
c.2911+1del No assertion criteria Niemann-Pick disease, type C1
c.3592-1G>C No assertion criteria Niemann-Pick disease, type C1
c.3754+1G>A No assertion criteria Niemann-Pick disease, type C1
c.3754+1G>C No assertion criteria Niemann-Pick disease, type C1
c.3754+1G>T No assertion criteria Niemann-Pick disease, type C1
c.58-2A>T No assertion criteria Niemann-Pick disease, type C1
p.Gln1222fs No assertion criteria Niemann-Pick disease, type C1
p.Gln922Ter No assertion criteria Niemann-Pick disease, type C1
p.Leu1154Ter No assertion criteria Niemann-Pick disease, type C1
p.Met1179fs No assertion criteria Niemann-Pick disease, type C1
p.Met1Val No assertion criteria Niemann-Pick disease, type C1
p.Phe1139fs No assertion criteria Niemann-Pick disease, type C1
p.Phe209_Ser210insTer No assertion criteria Niemann-Pick disease, type C1
p.Phe587fs No assertion criteria Niemann-Pick disease, type C1
p.Ser167Ter No assertion criteria Niemann-Pick disease, type C1
p.Tyr146fs No assertion criteria Niemann-Pick disease, type C1
p.Val133fs No assertion criteria Niemann-Pick disease, type C1

Conflicting classifications of pathogenicity 149

c.180+8C>T Single submitter Niemann-Pick disease, type C1
c.181-4A>C Single submitter Inborn genetic diseases
c.1947+10_1947+11insGGC Single submitter Niemann-Pick disease, type C1
c.1947+10G>T Single submitter Niemann-Pick disease, type C1
c.1947+12G>C Single submitter Niemann-Pick disease, type C1
c.1947+12G>T Single submitter Niemann-Pick disease, type C1
c.1947+13G>T Single submitter Niemann-Pick disease, type C1
c.1947+14_1947+15insC Single submitter Niemann-Pick disease, type C1
c.1947+7_1947+8insCGG Single submitter Niemann-Pick disease, type C1
c.1947+7_1947+8insCGGCG Single submitter Niemann-Pick disease, type C1
c.1947+7_1947+8insCGGGG Single submitter Niemann-Pick disease, type C1
c.1947+8G>C Single submitter Niemann-Pick disease, type C1
c.1947+9_1947+10insGGAG Single submitter Niemann-Pick disease, type C1
c.1948-11G>A Single submitter Niemann-Pick disease, type C1
c.2130+10C>G Single submitter Niemann-Pick disease, type C1
c.2246-5G>A Single submitter Niemann-Pick disease, type C1
c.2373+14A>G Single submitter Niemann-Pick disease, type C1
c.2514+15G>A Single submitter Niemann-Pick disease, type C1
c.2514+7G>A Single submitter Niemann-Pick disease, type C1
c.2911+10C>T Single submitter Niemann-Pick disease, type C1
c.2912-5G>A Single submitter Niemann-Pick disease, type C1
c.3041+10G>A Single submitter Niemann-Pick disease, type C1
c.3246-8C>T Single submitter Niemann-Pick disease, type C1
c.3478-7A>C Single submitter Niemann-Pick disease, type C1
c.3591+4del Single submitter Niemann-Pick disease, type C1
c.3592-9_3592-8del Single submitter Niemann-Pick disease, type C1
c.3754+3A>C Single submitter Inborn genetic diseases
c.3755-16TC[7] Single submitter Niemann-Pick disease, type C1
c.57+4A>G Single submitter Niemann-Pick disease, type C1
c.57+7G>A Single submitter Niemann-Pick disease, type C1
c.58-4G>A Single submitter Niemann-Pick disease, type C1
c.631+7A>G Single submitter Niemann-Pick disease, type C1
c.*309_*315del Single submitter
p.Ala1058Asp Single submitter Inborn genetic diseases ⚠
p.Ala1132Thr Single submitter Niemann-Pick disease, type C1 ⚠
p.Ala1187= Single submitter Inborn genetic diseases
p.Ala1187Gly Single submitter dystonic disorder ⚠
p.Ala1187Thr Single submitter Niemann-Pick disease, type C1 ⚠
p.Ala183Thr Single submitter Niemann-Pick disease, type C1 ⚠
p.Ala278= Single submitter Niemann-Pick disease, type C1
p.Ala321Val Single submitter Niemann-Pick disease, type C1 ⚠
p.Ala363Val Single submitter Niemann-Pick disease, type C1 ⚠
p.Ala507= Single submitter Niemann-Pick disease, type C1
p.Ala521Ser Single submitter Inborn genetic diseases ⚠
p.Ala558Ser Single submitter Niemann-Pick disease, type C1 ⚠
p.Ala764= Single submitter Niemann-Pick disease, type C1
p.Arg1059Gln Single submitter Niemann-Pick disease, type C1 ⚠
p.Arg1077Gln Single submitter Niemann-Pick disease, type C1 ⚠
p.Arg1186= Single submitter Niemann-Pick disease, type C1
p.Arg1186Cys Single submitter Inborn genetic diseases ⚠
p.Arg1272= Single submitter Niemann-Pick disease, type C1
p.Arg337= Single submitter Inborn genetic diseases
p.Arg389Cys Single submitter Niemann-Pick disease type C ⚠
p.Arg607= Single submitter Niemann-Pick disease, type C1
p.Arg646His Single submitter Inborn genetic diseases ⚠
p.Arg789His Single submitter Niemann-Pick disease, type C1 ⚠
p.Arg78Gln Single submitter Niemann-Pick disease, type C1 ⚠
p.Arg96Gly Single submitter Niemann-Pick disease type C ⚠
p.Arg978His Single submitter Niemann-Pick disease, type C1 ⚠
p.Asn1156Thr Single submitter Niemann-Pick disease, type C1 ⚠
p.Asn222Ser Single submitter Inborn genetic diseases ⚠
p.Asn557= Single submitter Niemann-Pick disease, type C1
p.Asn589Ser Single submitter Niemann-Pick disease, type C1 ⚠
p.Asn925= Single submitter Niemann-Pick disease, type C1
p.Asn961Ser Single submitter Niemann-Pick disease, type C1 ⚠
p.Asp1053= Single submitter Inborn genetic diseases
p.Asp1097Asn Single submitter Niemann-Pick disease, type C1 ⚠
p.Asp170Glu Single submitter Inborn genetic diseases ⚠
p.Asp182= Single submitter Inborn genetic diseases
p.Asp228= Single submitter Niemann-Pick disease, type C1
p.Asp232Gly Single submitter Niemann-Pick disease, type C1 ⚠
p.Asp37Gly Single submitter Niemann-Pick disease, type C1 ⚠
p.Asp944= Single submitter Niemann-Pick disease, type C1
p.Cys184Ser Single submitter Niemann-Pick disease, type C1 ⚠
p.Cys468Gly Single submitter Niemann-Pick disease, type C1 ⚠
p.Cys479Tyr Single submitter Inborn genetic diseases ⚠
p.Cys516Tyr Single submitter Niemann-Pick disease, type C1 ⚠
p.Gln421Glu Single submitter Niemann-Pick disease, type C1 ⚠
p.Gln447Lys Single submitter Niemann-Pick disease, type C1 ⚠
p.Gln60His Single submitter Inborn genetic diseases ⚠
p.Gln991= Single submitter Inborn genetic diseases
p.Glu233= Single submitter Niemann-Pick disease, type C1
p.Glu30= Single submitter Niemann-Pick disease, type C1
p.Glu451Lys Single submitter Niemann-Pick disease type C ⚠
p.Gly1073Ser Single submitter Niemann-Pick disease, type C1 ⚠
p.Gly904= Single submitter Niemann-Pick disease, type C1
p.Gly936= Single submitter Niemann-Pick disease, type C1
p.Gly986Ser Single submitter Niemann-Pick disease, type C1 ⚠
p.Gly992Trp Single submitter Niemann-Pick disease type C ⚠
p.His1239= Single submitter Inborn genetic diseases
p.His512Arg Single submitter Niemann-Pick disease, type C1 ⚠
p.Ile1094Thr Single submitter Niemann-Pick disease, type C1 ⚠
p.Ile1131= Single submitter Niemann-Pick disease, type C1
p.Ile271del Single submitter Niemann-Pick disease type C
p.Ile450Val Single submitter Inborn genetic diseases ⚠
p.Ile588= Single submitter Niemann-Pick disease, type C1
p.Ile787Val Single submitter Niemann-Pick disease, type C1 ⚠
p.Leu1045Pro Single submitter Niemann-Pick disease, type C1 ⚠
p.Leu1111= Single submitter Inborn genetic diseases
p.Leu1191Pro Single submitter Niemann-Pick disease, type C1 ⚠
p.Leu408Pro Single submitter Niemann-Pick disease, type C1 ⚠
p.Leu514= Single submitter Niemann-Pick disease, type C1
p.Leu817= Single submitter Niemann-Pick disease, type C1
p.Leu830Pro Single submitter Niemann-Pick disease, type C1 ⚠
p.Leu893= Single submitter Niemann-Pick disease, type C1
p.Met834Thr Single submitter Niemann-Pick disease, type C1 ⚠
p.Met872Val Single submitter Inborn genetic diseases ⚠
p.Phe101Cys Single submitter Niemann-Pick disease type C ⚠
p.Phe1100= Single submitter Niemann-Pick disease, type C1
p.Phe779= Single submitter Inborn genetic diseases
p.Phe924Leu Single submitter Niemann-Pick disease, type C1 ⚠
p.Pro237Ser Single submitter nasopharyngeal carcinoma ⚠
p.Pro424Ser Single submitter Niemann-Pick disease, type C1 ⚠
p.Pro433Leu Single submitter Niemann-Pick disease, type C1 ⚠
p.Ser1004Leu Single submitter Niemann-Pick disease, type C1 ⚠
p.Ser1164= Single submitter Niemann-Pick disease, type C1
p.Ser1249Gly Single submitter Niemann-Pick disease, type C1 ⚠
p.Ser22= Single submitter Niemann-Pick disease, type C1
p.Ser230_Val231del Single submitter Niemann-Pick disease, type C1
p.Ser328= Single submitter Niemann-Pick disease, type C1
p.Ser357Leu Single submitter Niemann-Pick disease, type C1 ⚠
p.Ser386Gly Single submitter Niemann-Pick disease, type C1 ⚠
p.Ser493= Single submitter Niemann-Pick disease, type C1
p.Ser734Thr Single submitter Niemann-Pick disease, type C1 ⚠
p.Ser824= Single submitter Niemann-Pick disease, type C1
p.Ser865Ala Single submitter Niemann-Pick disease, type C1 ⚠
p.Ser940= Single submitter Niemann-Pick disease, type C1
p.Ser954= Single submitter Inborn genetic diseases
p.Thr1036Met Single submitter Niemann-Pick disease type C ⚠
p.Thr1066= Single submitter Inborn genetic diseases
p.Thr1068Ile Single submitter Inborn genetic diseases ⚠
p.Thr1176= Single submitter Inborn genetic diseases
p.Thr137= Single submitter Niemann-Pick disease, type C1
p.Thr137Met Single submitter Niemann-Pick disease type C ⚠
p.Thr477= Single submitter Inborn genetic diseases
p.Thr477Met Single submitter Niemann-Pick disease, type C1 ⚠
p.Tyr157= Single submitter Inborn genetic diseases
p.Tyr192His Single submitter Niemann-Pick disease, type C1 ⚠
p.Val1104= Single submitter Niemann-Pick disease, type C1
p.Val1115Phe Single submitter Niemann-Pick disease, type C1 ⚠
p.Val1165Leu Single submitter Niemann-Pick disease, type C1 ⚠
p.Val1165Met Single submitter Niemann-Pick disease type C ⚠
p.Val517Ile Single submitter Niemann-Pick disease, type C1 ⚠
p.Val624Ile Single submitter Niemann-Pick disease, type C1 ⚠
p.Val753Met Single submitter Niemann-Pick disease, type C1 ⚠
p.Val757Met Single submitter Niemann-Pick disease, type C1 ⚠
p.Val768= Single submitter NPC1-related disorder
p.Val810Phe Single submitter Niemann-Pick disease, type C1 ⚠
p.Val856Ala Single submitter Niemann-Pick disease, type C1 ⚠

Benign 58

c.1654+58T>C Multiple submitters
c.1757+60G>A Multiple submitters Niemann-Pick disease, type C1
c.1947+123T>G Multiple submitters
c.1947+14G>T Multiple submitters Niemann-Pick disease, type C1
c.1947+90T>C Multiple submitters
c.2130+56A>G Multiple submitters
c.2131-4del Multiple submitters Niemann-Pick disease, type C1
c.2131-5_2131-4del Multiple submitters Niemann-Pick disease, type C1
c.2514+6C>T Multiple submitters Niemann-Pick disease, type C1
c.2605-182G>T Multiple submitters
c.2605-70A>G Multiple submitters
c.2911+28T>C Multiple submitters Niemann-Pick disease, type C1
c.2911+72C>T Multiple submitters
c.3246-46C>T Multiple submitters
c.3478-177A>G Multiple submitters
c.3754+34A>G Multiple submitters Niemann-Pick disease, type C1
c.-22A>C Multiple submitters Niemann-Pick disease, type C1
p.Arg1266Gln Multiple submitters Niemann-Pick disease, type C1
p.Asn701= Multiple submitters Niemann-Pick disease, type C1
p.Asn931= Multiple submitters Niemann-Pick disease, type C1
p.His215Arg Multiple submitters Niemann-Pick disease, type C1
p.Ile858Val Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Met1179Val Multiple submitters Niemann-Pick disease, type C1
p.Tyr129= Multiple submitters Niemann-Pick disease, type C1
c.1327-12dup Single submitter Niemann-Pick disease, type C1
c.1327-16dup Single submitter Niemann-Pick disease, type C1
c.1553+152del Single submitter
c.1554-1021A>T Single submitter Niemann-Pick disease, type C1
c.1554-238A>G Single submitter
c.1554-681C>T Single submitter
c.1554-880C>G Single submitter
c.1655-233_1655-232del Single submitter
c.1655-248_1655-247dup Single submitter
c.1655-248dup Single submitter
c.181-268_181-265del Single submitter
c.1947+10_1947+11insGGGT Single submitter Niemann-Pick disease, type C1
c.1947+10_1947+11insGGGTG Single submitter Niemann-Pick disease, type C1
c.1947+12_1947+13insGGGA Single submitter Niemann-Pick disease, type C1
c.1947+12_1947+13insGGGGC Single submitter Niemann-Pick disease, type C1
c.1947+12_1947+13insGGGT Single submitter Niemann-Pick disease, type C1
c.1947+15_1947+16insGC Single submitter Niemann-Pick disease, type C1
c.1947+16del Single submitter Niemann-Pick disease, type C1
c.2131-6_2131-4del Single submitter
c.2245+109dup Single submitter
c.2245+121_2245+122insCTTTTTTTTTTTTTC Single submitter
c.2514+163T>C Single submitter
c.2604+15dup Single submitter
c.2604+29_2604+30del Single submitter
c.2605-14del Single submitter Niemann-Pick disease, type C1
c.3042-158T>C Single submitter
c.3246-242T>G Single submitter
c.3246-6dup Single submitter Niemann-Pick disease, type C1
c.3755-16TC[5] Single submitter Niemann-Pick disease, type C1
c.57+11G>C Single submitter Niemann-Pick disease, type C1
c.881+261_881+262dup Single submitter
c.882-288T>C Single submitter
c.956-61C>T Single submitter
p.Met642Ile Single submitter Niemann-Pick disease, type C1

Benign/Likely benign 39

c.1947+10G>A Multiple submitters Niemann-Pick disease, type C1
c.1947+10G>C Multiple submitters Niemann-Pick disease, type C1
c.1947+11_1947+12insGGGT Multiple submitters Niemann-Pick disease, type C1
c.1947+15_1947+16insGT Multiple submitters Niemann-Pick disease, type C1
c.1947+17T>G Multiple submitters Niemann-Pick disease, type C1
c.1947+6dup Multiple submitters Niemann-Pick disease, type C1
c.1947+7_1947+8insCGGG Multiple submitters Niemann-Pick disease, type C1
c.1947+8_1947+10dup Multiple submitters Niemann-Pick disease, type C1
c.1947+8_1947+11dup Multiple submitters Niemann-Pick disease, type C1
c.1947+8_1947+9dup Multiple submitters Niemann-Pick disease, type C1
c.1947+8dup Multiple submitters Niemann-Pick disease, type C1
c.1947+9_1947+10insC Multiple submitters Niemann-Pick disease, type C1
c.1947+9_1947+10insT Multiple submitters Niemann-Pick disease, type C1
c.2795+19T>C Multiple submitters Niemann-Pick disease, type C1
c.3246-20G>A Multiple submitters Niemann-Pick disease, type C1
c.3477+19T>C Multiple submitters Niemann-Pick disease, type C1
c.3477+4A>G Multiple submitters Inborn genetic diseases
c.463+19A>G Multiple submitters Niemann-Pick disease, type C1
c.631+17C>T Multiple submitters Niemann-Pick disease, type C1
c.882-40T>A Multiple submitters Niemann-Pick disease, type C1
c.-32C>T Multiple submitters Niemann-Pick disease, type C1
c.*164T>C Multiple submitters Niemann-Pick disease, type C1
p.Ala696= Multiple submitters Niemann-Pick disease, type C1
p.Arg411Gln Multiple submitters Niemann-Pick disease, type C1
p.Asn1150= Multiple submitters Niemann-Pick disease, type C1
p.Asp180= Multiple submitters Inborn genetic diseases
p.Asp501= Multiple submitters Niemann-Pick disease, type C1
p.Gly149Arg Multiple submitters Niemann-Pick disease, type C1
p.Gly911Ser Multiple submitters Niemann-Pick disease, type C1
p.Ile1147= Multiple submitters Inborn genetic diseases
p.Phe565= Multiple submitters Niemann-Pick disease, type C1
p.Pro434Ser Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Pro691= Multiple submitters Inborn genetic diseases
p.Pro887= Multiple submitters Inborn genetic diseases
p.Ser1200Gly Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Ser357= Multiple submitters Niemann-Pick disease, type C1
p.Thr204= Multiple submitters Inborn genetic diseases
p.Thr511Met Multiple submitters Niemann-Pick disease, type C1
c.2131-21dup No assertion criteria

Likely benign 1122

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

c.1553+18A>G Multiple submitters Niemann-Pick disease, type C1
c.1554-186T>G Multiple submitters
c.181-15T>C Multiple submitters Niemann-Pick disease, type C1
c.181-88A>G Multiple submitters
c.1947+10_1947+11insT Multiple submitters Niemann-Pick disease, type C1
c.1947+13_1947+14insGGGGT Multiple submitters Niemann-Pick disease, type C1
c.1947+13_1947+14insGGT Multiple submitters Niemann-Pick disease, type C1
c.1947+13_1947+14insT Multiple submitters Niemann-Pick disease, type C1
c.1947+13G>C Multiple submitters Niemann-Pick disease, type C1
c.1947+16_1947+17insCGG Multiple submitters Niemann-Pick disease, type C1
c.1947+16_1947+17insGTGG Multiple submitters Niemann-Pick disease, type C1
c.1947+7_1947+8insA Multiple submitters Niemann-Pick disease, type C1
c.1947+7_1947+8insCGGGGG Multiple submitters Niemann-Pick disease, type C1
c.1947+7C>T Multiple submitters Niemann-Pick disease, type C1
c.1947+8_1947+12dup Multiple submitters Niemann-Pick disease, type C1
c.1948-164C>G Multiple submitters
c.2246-5G>C Multiple submitters Niemann-Pick disease, type C1
c.2604+14_2604+16del Multiple submitters Niemann-Pick disease, type C1
c.2796-17C>T Multiple submitters Niemann-Pick disease, type C1
c.2911+339C>T Multiple submitters
c.3477+15A>G Multiple submitters Niemann-Pick disease, type C1
c.3591+265C>T Multiple submitters
c.3592-42G>C Multiple submitters
c.57+17C>T Multiple submitters Niemann-Pick disease, type C1
c.631+20G>C Multiple submitters Niemann-Pick disease, type C1
c.881+153A>G Multiple submitters
c.881+196A>G Multiple submitters
c.881+37C>G Multiple submitters
c.956-11C>T Multiple submitters Niemann-Pick disease, type C1
c.*68G>A Multiple submitters Niemann-Pick disease, type C1
p.Ala659= Multiple submitters Inborn genetic diseases
p.Ala756= Multiple submitters Inborn genetic diseases
p.Ala926= Multiple submitters Niemann-Pick disease, type C1
p.Arg1173= Multiple submitters Inborn genetic diseases
p.Arg296= Multiple submitters Niemann-Pick disease, type C1
p.Asn41= Multiple submitters Niemann-Pick disease, type C1
p.Asn70= Multiple submitters Niemann-Pick disease, type C1
p.Asp266= Multiple submitters Niemann-Pick disease, type C1
p.Asp700= Multiple submitters Inborn genetic diseases
p.Cys113= Multiple submitters Niemann-Pick disease, type C1
p.Cys1161= Multiple submitters Niemann-Pick disease, type C1
p.Cys346= Multiple submitters Inborn genetic diseases
p.Cys74= Multiple submitters Niemann-Pick disease, type C1
p.Cys799= Multiple submitters Niemann-Pick disease, type C1
p.Gly149= Multiple submitters Niemann-Pick disease, type C1
p.Gly5= Multiple submitters Inborn genetic diseases
p.Ile685= Multiple submitters Inborn genetic diseases
p.Leu10= Multiple submitters Niemann-Pick disease, type C1
p.Leu1102= Multiple submitters Inborn genetic diseases
p.Leu1244= Multiple submitters Inborn genetic diseases
p.Leu1248= Multiple submitters Inborn genetic diseases
p.Leu380= Multiple submitters Inborn genetic diseases
p.Leu390= Multiple submitters Inborn genetic diseases
p.Leu728= Multiple submitters Niemann-Pick disease, type C1
p.Leu751= Multiple submitters Niemann-Pick disease, type C1
p.Pro255= Multiple submitters Inborn genetic diseases
p.Pro474= Multiple submitters Inborn genetic diseases
p.Pro543= Multiple submitters Niemann-Pick disease, type C1
p.Ser24= Multiple submitters Inborn genetic diseases
p.Ser300= Multiple submitters Inborn genetic diseases
p.Ser425= Multiple submitters Inborn genetic diseases
p.Thr1043= Multiple submitters Inborn genetic diseases
p.Thr1113= Multiple submitters Niemann-Pick disease, type C1
p.Thr124= Multiple submitters Niemann-Pick disease, type C1
p.Thr536= Multiple submitters Inborn genetic diseases
p.Tyr147= Multiple submitters Niemann-Pick disease, type C1
p.Tyr882= Multiple submitters Inborn genetic diseases
p.Val1044= Multiple submitters Inborn genetic diseases
p.Val148= Multiple submitters Niemann-Pick disease, type C1
p.Val290= Multiple submitters Niemann-Pick disease, type C1
p.Val873= Multiple submitters Niemann-Pick disease, type C1
c.1326+130_1326+131del Single submitter
c.1326+14T>G Single submitter Niemann-Pick disease, type C1
c.1326+15G>A Single submitter Niemann-Pick disease, type C1
c.1326+176_1326+178del Single submitter
c.1326+293A>G Single submitter
c.1327-10C>A Single submitter Niemann-Pick disease, type C1
c.1327-15A>G Single submitter Niemann-Pick disease, type C1
c.1327-4T>C Single submitter Niemann-Pick disease, type C1
c.1327-7C>G Single submitter Niemann-Pick disease, type C1
c.1327-9T>A Single submitter Niemann-Pick disease, type C1
c.1553+14G>C Single submitter Niemann-Pick disease, type C1
c.1553+17A>G Single submitter Niemann-Pick disease, type C1
c.1553+18A>T Single submitter Niemann-Pick disease, type C1
c.1553+327G>A Single submitter
c.1553+7G>A Single submitter Niemann-Pick disease, type C1
c.1553+9C>G Single submitter Niemann-Pick disease, type C1
c.1554-1009G>T Single submitter Niemann-Pick disease, type C1
c.1554-1016C>T Single submitter
c.1554-1057G>C Single submitter Niemann-Pick disease, type C1
c.1554-1249G>A Single submitter
c.1554-14A>G Single submitter Niemann-Pick disease, type C1
c.1554-15del Single submitter Niemann-Pick disease, type C1
c.1554-17T>C Single submitter Niemann-Pick disease, type C1
c.1554-18T>C Single submitter Niemann-Pick disease, type C1
c.1554-19T>C Single submitter Niemann-Pick disease, type C1
c.1554-4G>A Single submitter Niemann-Pick disease, type C1
c.1554-7T>C Single submitter Niemann-Pick disease, type C1
c.1554-7T>G Single submitter Niemann-Pick disease, type C1
c.1554-871G>A Single submitter
c.1554-877C>G Single submitter
c.1554-9T>C Single submitter Niemann-Pick disease, type C1
c.1554-9T>G Single submitter Niemann-Pick disease, type C1
c.1654+15C>G Single submitter Niemann-Pick disease, type C1
c.1654+15C>T Single submitter Niemann-Pick disease, type C1
c.1654+20A>G Single submitter Niemann-Pick disease, type C1
c.1654+250C>T Single submitter
c.1654+311C>T Single submitter
c.1654+9G>C Single submitter Niemann-Pick disease, type C1
c.1655-10dup Single submitter Niemann-Pick disease, type C1
c.1655-10T>C Single submitter Niemann-Pick disease, type C1
c.1655-11T>C Single submitter Niemann-Pick disease, type C1
c.1655-16C>T Single submitter Niemann-Pick disease, type C1
c.1655-248_1655-245dup Single submitter
c.1655-248_1655-246dup Single submitter
c.1655-4C>T Single submitter Niemann-Pick disease, type C1
c.1655-7T>C Single submitter Niemann-Pick disease, type C1
c.1757+10T>C Single submitter Niemann-Pick disease, type C1
c.1757+12A>G Single submitter Niemann-Pick disease, type C1
c.1757+13T>A Single submitter Niemann-Pick disease, type C1
c.1757+14G>A Single submitter Niemann-Pick disease, type C1
c.1757+19dup Single submitter Niemann-Pick disease, type C1
c.1757+19T>C Single submitter Niemann-Pick disease, type C1
c.1757+7dup Single submitter Niemann-Pick disease, type C1
c.1757+8A>G Single submitter Niemann-Pick disease, type C1
c.1757+8A>T Single submitter Niemann-Pick disease, type C1
c.1757+9C>T Single submitter Niemann-Pick disease, type C1
c.1758-10T>C Single submitter Niemann-Pick disease, type C1
c.1758-14_1758-13dup Single submitter Niemann-Pick disease, type C1
c.1758-15T>C Single submitter Niemann-Pick disease, type C1
c.1758-17T>G Single submitter Niemann-Pick disease, type C1
c.1758-22T>C Single submitter
c.1758-8C>T Single submitter Niemann-Pick disease, type C1
c.180+11T>C Single submitter Niemann-Pick disease, type C1
c.180+13T>A Single submitter Niemann-Pick disease, type C1
c.180+13T>C Single submitter Niemann-Pick disease, type C1
c.180+14C>T Single submitter Niemann-Pick disease, type C1
c.180+17A>G Single submitter Niemann-Pick disease, type C1
c.180+19G>A Single submitter Niemann-Pick disease, type C1
c.180+19G>T Single submitter Niemann-Pick disease, type C1
c.180+20C>T Single submitter Niemann-Pick disease, type C1
c.180+7T>C Single submitter Niemann-Pick disease, type C1
c.180+8C>A Single submitter Niemann-Pick disease, type C1
c.180+9A>G Single submitter Niemann-Pick disease, type C1
c.181-10C>A Single submitter Niemann-Pick disease, type C1
c.181-10C>T Single submitter Niemann-Pick disease, type C1
c.181-16C>T Single submitter Niemann-Pick disease, type C1
c.181-17G>C Single submitter Niemann-Pick disease, type C1
c.181-19G>A Single submitter Niemann-Pick disease, type C1
c.181-290T>C Single submitter
c.181-4A>G Single submitter Niemann-Pick disease, type C1
c.181-6T>C Single submitter Niemann-Pick disease, type C1
c.181-7C>T Single submitter Niemann-Pick disease, type C1
c.1947+10_1947+11insC Single submitter Niemann-Pick disease, type C1
c.1947+10_1947+11insGGA Single submitter Niemann-Pick disease, type C1
c.1947+10_1947+11insGGGAG Single submitter Niemann-Pick disease, type C1
c.1947+10_1947+11insGGGCG Single submitter Niemann-Pick disease, type C1
c.1947+10_1947+11insGGGCGG Single submitter Niemann-Pick disease, type C1
c.1947+10_1947+11insGGT Single submitter Niemann-Pick disease, type C1
c.1947+10_1947+11insGGTT Single submitter Niemann-Pick disease, type C1
c.1947+11_1947+12insA Single submitter Niemann-Pick disease, type C1
c.1947+11_1947+12insC Single submitter Niemann-Pick disease, type C1
c.1947+11_1947+12insGC Single submitter Niemann-Pick disease, type C1
c.1947+11_1947+12insGGA Single submitter Niemann-Pick disease, type C1
c.1947+11_1947+12insGGC Single submitter Niemann-Pick disease, type C1
c.1947+11_1947+12insGGGA Single submitter Niemann-Pick disease, type C1
c.1947+11_1947+12insGGGC Single submitter Niemann-Pick disease, type C1
c.1947+11_1947+12insGGGGA Single submitter Niemann-Pick disease, type C1
c.1947+11_1947+12insGGGGAG Single submitter Niemann-Pick disease, type C1
c.1947+11_1947+12insGGGGCG Single submitter Niemann-Pick disease, type C1
c.1947+11_1947+12insGGGGT Single submitter Niemann-Pick disease, type C1
c.1947+11_1947+12insGGGGTG Single submitter Niemann-Pick disease, type C1
c.1947+11_1947+12insGGT Single submitter Niemann-Pick disease, type C1
c.1947+11_1947+12insGT Single submitter Niemann-Pick disease, type C1
c.1947+11_1947+12insT Single submitter Niemann-Pick disease, type C1
c.1947+11_1947+16dup Single submitter Niemann-Pick disease, type C1
c.1947+11G>A Single submitter Niemann-Pick disease, type C1
c.1947+11G>C Single submitter Niemann-Pick disease, type C1
c.1947+11G>T Single submitter Niemann-Pick disease, type C1
c.1947+12_1947+13insA Single submitter Niemann-Pick disease, type C1
c.1947+12_1947+13insC Single submitter Niemann-Pick disease, type C1
c.1947+12_1947+13insGA Single submitter Niemann-Pick disease, type C1
c.1947+12_1947+13insGC Single submitter Niemann-Pick disease, type C1
c.1947+12_1947+13insGGA Single submitter Niemann-Pick disease, type C1
c.1947+12_1947+13insGGC Single submitter Niemann-Pick disease, type C1
c.1947+12_1947+13insGGGC Single submitter Niemann-Pick disease, type C1
c.1947+12_1947+13insGGGGA Single submitter Niemann-Pick disease, type C1
c.1947+12_1947+13insGGGGT Single submitter Niemann-Pick disease, type C1
c.1947+12_1947+13insGGT Single submitter Niemann-Pick disease, type C1
c.1947+12_1947+13insGT Single submitter Niemann-Pick disease, type C1
c.1947+12_1947+13insT Single submitter Niemann-Pick disease, type C1
c.1947+12G>A Single submitter Niemann-Pick disease, type C1
c.1947+13_1947+14insA Single submitter Niemann-Pick disease, type C1
c.1947+13_1947+14insC Single submitter Niemann-Pick disease, type C1
c.1947+13_1947+14insGGA Single submitter Niemann-Pick disease, type C1
c.1947+13_1947+14insGGC Single submitter Niemann-Pick disease, type C1
c.1947+13_1947+14insGGGA Single submitter Niemann-Pick disease, type C1
c.1947+13_1947+14insGGGC Single submitter Niemann-Pick disease, type C1
c.1947+13_1947+14insGGGGA Single submitter Niemann-Pick disease, type C1
c.1947+13_1947+14insGGGGC Single submitter Niemann-Pick disease, type C1
c.1947+13_1947+14insGGGGGA Single submitter Niemann-Pick disease, type C1
c.1947+13_1947+14insGGGGGC Single submitter Niemann-Pick disease, type C1
c.1947+13_1947+14insGGGGGT Single submitter Niemann-Pick disease, type C1
c.1947+13_1947+14insGGGT Single submitter Niemann-Pick disease, type C1
c.1947+13G>A Single submitter Niemann-Pick disease, type C1
c.1947+14_1947+15insA Single submitter Niemann-Pick disease, type C1
c.1947+14_1947+15insGA Single submitter Niemann-Pick disease, type C1
c.1947+14_1947+15insGGA Single submitter Niemann-Pick disease, type C1
c.1947+14_1947+15insGGC Single submitter Niemann-Pick disease, type C1
c.1947+14_1947+15insGGGA Single submitter Niemann-Pick disease, type C1
c.1947+14_1947+15insGGGC Single submitter Niemann-Pick disease, type C1
c.1947+14_1947+15insGGGGA Single submitter Niemann-Pick disease, type C1
c.1947+14_1947+15insGGGGC Single submitter Niemann-Pick disease, type C1
c.1947+14_1947+15insGGGGGT Single submitter Niemann-Pick disease, type C1
c.1947+14_1947+15insGGGGT Single submitter Niemann-Pick disease, type C1
c.1947+14_1947+15insGGGT Single submitter Niemann-Pick disease, type C1
c.1947+14_1947+15insGGT Single submitter Niemann-Pick disease, type C1
c.1947+14_1947+15insGT Single submitter Niemann-Pick disease, type C1
c.1947+14_1947+15insT Single submitter Niemann-Pick disease, type C1
c.1947+14G>A Single submitter Niemann-Pick disease, type C1
c.1947+14G>C Single submitter Niemann-Pick disease, type C1
c.1947+15_1947+16insGA Single submitter Niemann-Pick disease, type C1
c.1947+15_1947+16insGGA Single submitter Niemann-Pick disease, type C1
c.1947+15_1947+16insGGC Single submitter Niemann-Pick disease, type C1
c.1947+15_1947+16insGGGA Single submitter Niemann-Pick disease, type C1
c.1947+15_1947+16insGGGC Single submitter Niemann-Pick disease, type C1
c.1947+15_1947+16insGGGGA Single submitter Niemann-Pick disease, type C1
c.1947+15_1947+16insGGGGC Single submitter Niemann-Pick disease, type C1
c.1947+15_1947+16insGGGGGC Single submitter Niemann-Pick disease, type C1
c.1947+15_1947+16insGGGGGT Single submitter Niemann-Pick disease, type C1
c.1947+15_1947+16insGGGGT Single submitter Niemann-Pick disease, type C1
c.1947+15_1947+16insGGGT Single submitter Niemann-Pick disease, type C1
c.1947+15_1947+16insGGT Single submitter Niemann-Pick disease, type C1
c.1947+15_1947+16insGTT Single submitter Niemann-Pick disease, type C1
c.1947+15_1947+16insT Single submitter Niemann-Pick disease, type C1
c.1947+15_1947+19dup Single submitter Niemann-Pick disease, type C1
c.1947+15G>C Single submitter Niemann-Pick disease, type C1
c.1947+15G>T Single submitter Niemann-Pick disease, type C1
c.1947+16_1947+17insGGA Single submitter Niemann-Pick disease, type C1
c.1947+16_1947+17insGGC Single submitter Niemann-Pick disease, type C1
c.1947+16_1947+17insGGGGA Single submitter Niemann-Pick disease, type C1
c.1947+16_1947+17insGGGGC Single submitter Niemann-Pick disease, type C1
c.1947+16_1947+17insGGGGGA Single submitter Niemann-Pick disease, type C1
c.1947+16_1947+17insGGGGGC Single submitter Niemann-Pick disease, type C1
c.1947+16_1947+17insGGGGGT Single submitter Niemann-Pick disease, type C1
c.1947+16_1947+17insGGGGT Single submitter Niemann-Pick disease, type C1
c.1947+16_1947+19dup Single submitter Niemann-Pick disease, type C1
c.1947+17_1947+18dup Single submitter Niemann-Pick disease, type C1
c.1947+17del Single submitter Niemann-Pick disease, type C1
c.1947+17T>C Single submitter Niemann-Pick disease, type C1
c.1947+18_1947+19dup Single submitter Niemann-Pick disease, type C1
c.1947+180G>T Single submitter
c.1947+19_1947+20insGGG Single submitter Niemann-Pick disease, type C1
c.1947+19_1947+20insGGGG Single submitter Niemann-Pick disease, type C1
c.1947+19_1947+20insGGGGG Single submitter Niemann-Pick disease, type C1
c.1947+19dup Single submitter Niemann-Pick disease, type C1
c.1947+19G>C Single submitter Niemann-Pick disease, type C1
c.1947+7_1947+10dup Single submitter Niemann-Pick disease, type C1
c.1947+7_1947+11dup Single submitter Niemann-Pick disease, type C1
c.1947+7_1947+12dup Single submitter Niemann-Pick disease, type C1
c.1947+7_1947+13dup Single submitter Niemann-Pick disease, type C1
c.1947+7_1947+8insAGGG Single submitter Niemann-Pick disease, type C1
c.1947+7_1947+8insCAGG Single submitter Niemann-Pick disease, type C1
c.1947+7_1947+8insCG Single submitter Niemann-Pick disease, type C1
c.1947+7_1947+8insCGCGG Single submitter Niemann-Pick disease, type C1
c.1947+7_1947+8insCGGAG Single submitter Niemann-Pick disease, type C1
c.1947+7_1947+8insCGGCGG Single submitter Niemann-Pick disease, type C1
c.1947+7_1947+8insCGGGGGG Single submitter Niemann-Pick disease, type C1
c.1947+7_1947+8insT Single submitter Niemann-Pick disease, type C1
c.1947+7_1947+8insTGGG Single submitter Niemann-Pick disease, type C1
c.1947+7_1947+9dup Single submitter Niemann-Pick disease, type C1
c.1947+7C>G Single submitter Niemann-Pick disease, type C1
c.1947+8_1947+9insC Single submitter Niemann-Pick disease, type C1
c.1947+8_1947+9insGAGGG Single submitter Niemann-Pick disease, type C1
c.1947+8_1947+9insGCG Single submitter Niemann-Pick disease, type C1
c.1947+8_1947+9insGCGG Single submitter Niemann-Pick disease, type C1
c.1947+8_1947+9insGCGGG Single submitter Niemann-Pick disease, type C1
c.1947+8_1947+9insGTGG Single submitter Niemann-Pick disease, type C1
c.1947+8_1947+9insGTGGG Single submitter Niemann-Pick disease, type C1
c.1947+8G>A Single submitter Niemann-Pick disease, type C1
c.1947+9_1947+10insA Single submitter Niemann-Pick disease, type C1
c.1947+9_1947+10insGC Single submitter Niemann-Pick disease, type C1
c.1947+9_1947+10insGGA Single submitter Niemann-Pick disease, type C1
c.1947+9_1947+10insGGAGG Single submitter Niemann-Pick disease, type C1
c.1947+9_1947+10insGGAGGG Single submitter Niemann-Pick disease, type C1
c.1947+9_1947+10insGGCG Single submitter Niemann-Pick disease, type C1
c.1947+9_1947+10insGGCGG Single submitter Niemann-Pick disease, type C1
c.1947+9_1947+10insGGCGGG Single submitter Niemann-Pick disease, type C1
c.1947+9_1947+10insGGT Single submitter Niemann-Pick disease, type C1
c.1947+9_1947+10insGGTG Single submitter Niemann-Pick disease, type C1
c.1947+9_1947+10insGGTGG Single submitter Niemann-Pick disease, type C1
c.1947+9_1947+10insGGTGGG Single submitter Niemann-Pick disease, type C1
c.1947+9G>C Single submitter Niemann-Pick disease, type C1
c.1948-11G>C Single submitter Niemann-Pick disease, type C1
c.1948-12C>T Single submitter Niemann-Pick disease, type C1
c.1948-164C>A Single submitter
c.1948-16C>T Single submitter Niemann-Pick disease, type C1
c.1948-20G>C Single submitter Niemann-Pick disease, type C1
c.1948-20G>T Single submitter Niemann-Pick disease, type C1
c.1948-4T>A Single submitter Niemann-Pick disease, type C1

Uncertain significance 657

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

c.181-3A>G Multiple submitters Niemann-Pick disease, type C1
c.1947+6C>G Multiple submitters Niemann-Pick disease, type C1
c.2604+4A>G Multiple submitters Niemann-Pick disease, type C1
c.2911+4C>T Multiple submitters Niemann-Pick disease, type C1
c.3478-6T>A Multiple submitters Niemann-Pick disease, type C1
c.3592-7_3592-5del Multiple submitters Niemann-Pick disease, type C1
c.631+3A>G Multiple submitters Niemann-Pick disease, type C1
c.*494G>T Multiple submitters Niemann-Pick disease, type C1
p.Ala1018Thr Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Ala1108Val Multiple submitters Inborn genetic diseases ⚠
p.Ala1187Val Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Ala165Asp Multiple submitters NPC1-related disorder ⚠
p.Ala165Val Multiple submitters ⚠
p.Ala181Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala267Thr Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Ala329Thr Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Ala3Thr Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Ala449Val Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Ala521Thr Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Ala659Val Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Ala745Glu Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Ala851Thr Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Ala885Val Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Arg1183His Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Arg1272Cys Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Arg1272His Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Arg1274Gln Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Arg1274Trp Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Arg161Trp Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Arg337Gln Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Arg372Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg646Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg711Gly Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Arg714Cys Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Arg714His Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Arg794Trp Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Arg819Cys Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Arg819Ser Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Arg934Leu Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Asn185Asp Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Asn188Ser Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Asn572Asp Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Asn598Ser Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Asn70Ser Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Asn916Ser Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Asp128His Multiple submitters Inborn genetic diseases ⚠
p.Asp182Asn Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Asp306Asn Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Asp502Asn Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Asp868Val Multiple submitters Inborn genetic diseases ⚠
p.Asp898Asn Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Cys334Ser Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Gln407His Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Gln991His Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Glu1067Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu1265Val Multiple submitters Inborn genetic diseases ⚠
p.Glu1271Ala Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Glu1271Gln Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Glu1273Lys Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Glu30Val Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Glu895Lys Multiple submitters ⚠
p.Gly784Ala Multiple submitters Niemann-Pick disease, type C1 ⚠
p.His441Tyr Multiple submitters Inborn genetic diseases ⚠
p.Ile1109Val Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Ile1223Val Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Ile1242Val Multiple submitters Inborn genetic diseases ⚠
p.Ile190Thr Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Ile271Val Multiple submitters Inborn genetic diseases ⚠
p.Ile837Thr Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Ile837Val Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Ile923Val Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Leu1055Met Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Leu1060Phe Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Leu1230Ser Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Leu577Phe Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Leu695Val Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Leu783Phe Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Leu8Arg Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Leu91Val Multiple submitters Inborn genetic diseases ⚠
p.Lys196Glu Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Lys250Thr Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Lys576Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys987Gln Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Met1069Val Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Met156Thr Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Met156Val Multiple submitters Inborn genetic diseases ⚠
p.Met866Ile Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Met866Val Multiple submitters Inborn genetic diseases ⚠
p.Met872Leu Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Met912Leu Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Phe1207Ser Multiple submitters Silver-Russell syndrome ⚠
p.Phe1221Ser Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Phe68Leu Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Phe966Tyr Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Pro253_Pro254insGlnPro Multiple submitters Niemann-Pick disease, type C1
p.Pro255Ser Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Pro430Arg Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Pro520Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro981Leu Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Ser1020Thr Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Ser1197= Multiple submitters Niemann-Pick disease, type C1
p.Ser1254Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser300Cys Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Ser385Gly Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Ser425Leu Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Ser666Asn Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Ser815Arg Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Ser826Pro Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Ser880Arg Multiple submitters Inborn genetic diseases ⚠
p.Thr362Asn Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Thr405Met Multiple submitters Inborn genetic diseases ⚠
p.Thr536Met Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Thr759Ala Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Thr933Ile Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Trp291Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr28Cys Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Tyr56Cys Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Tyr570Cys Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Tyr571Cys Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Tyr709Phe Multiple submitters Inborn genetic diseases ⚠
p.Tyr882Cys Multiple submitters Inborn genetic diseases ⚠
p.Val1044Met Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Val1184Met Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Val133Gly Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Val347Ile Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Val494Met Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Val697Ala Multiple submitters Niemann-Pick disease, type C1 ⚠
p.Val959Leu Multiple submitters Inborn genetic diseases ⚠
p.Val977Ile Multiple submitters Niemann-Pick disease, type C1 ⚠
c.1757+3G>T Single submitter Niemann-Pick disease, type C1
c.180+2dup Single submitter
c.2130+5A>G Single submitter Niemann-Pick disease, type C1
c.2131-14_2131-4del Single submitter
c.2373+4A>G Single submitter Niemann-Pick disease, type C1
c.2514+3A>C Single submitter
c.2514+4T>G Single submitter Niemann-Pick disease, type C1
c.2604+3A>G Single submitter Niemann-Pick disease, type C1
c.2604+8_2604+71del Single submitter Niemann-Pick disease, type C1
c.2795+3_2795+6del Single submitter Niemann-Pick disease, type C1
c.287+5G>C Single submitter Niemann-Pick disease, type C1
c.2911+6T>A Single submitter Niemann-Pick disease, type C1
c.2912-3C>G Single submitter Niemann-Pick disease, type C1
c.3478-3C>T Single submitter Niemann-Pick disease, type C1
c.3591+3G>C Single submitter Niemann-Pick disease, type C1
c.3592-3T>C Single submitter Niemann-Pick disease, type C1
c.3754+4A>G Single submitter Niemann-Pick disease, type C1
c.3755-16TC[4] Single submitter Niemann-Pick disease, type C1
c.3755-3T>C Single submitter Niemann-Pick disease, type C1
c.463+3A>G Single submitter Niemann-Pick disease, type C1
c.463+4_463+5dup Single submitter Niemann-Pick disease, type C1
c.464-15G>A Single submitter Niemann-Pick disease, type C1
c.464-16G>A Single submitter Niemann-Pick disease, type C1
c.57+5G>A Single submitter Niemann-Pick disease, type C1
c.57+6C>T Single submitter
c.631+5G>A Single submitter Niemann-Pick disease, type C1
c.632-5T>A Single submitter Niemann-Pick disease, type C1
c.881+4_881+10del Single submitter
c.881+6C>T Single submitter Niemann-Pick disease, type C1
c.955+4G>A Single submitter Niemann-Pick disease, type C1
c.956-7C>G Single submitter
c.-100C>G Single submitter Niemann-Pick disease, type C1
c.-110C>T Single submitter Niemann-Pick disease, type C1
c.-116C>G Single submitter Niemann-Pick disease, type C1
c.-135C>T Single submitter Niemann-Pick disease, type C1
c.-139G>A Single submitter Niemann-Pick disease, type C1
c.-154C>T Single submitter Niemann-Pick disease, type C1
c.-29C>G Single submitter Niemann-Pick disease, type C1
c.-31G>A Single submitter Niemann-Pick disease, type C1
c.-36A>C Single submitter Niemann-Pick disease, type C1
c.*109T>G Single submitter Niemann-Pick disease, type C1
c.*129T>G Single submitter Niemann-Pick disease, type C1
c.*161C>T Single submitter Niemann-Pick disease, type C1
c.*191C>A Single submitter Niemann-Pick disease, type C1
c.*202C>T Single submitter Niemann-Pick disease, type C1
c.*327C>T Single submitter Niemann-Pick disease, type C1
c.*328A>C Single submitter Niemann-Pick disease, type C1
c.*334T>A Single submitter Niemann-Pick disease, type C1
c.*500A>G Single submitter Niemann-Pick disease, type C1
c.*718C>T Single submitter Niemann-Pick disease, type C1
c.*94G>A Single submitter Niemann-Pick disease, type C1
p.Ala1017Thr Single submitter NPC1-related disorder ⚠
p.Ala1018Val Single submitter Niemann-Pick disease, type C1 ⚠
p.Ala1058Thr Single submitter Niemann-Pick disease, type C1 ⚠
p.Ala1108Thr Single submitter Niemann-Pick disease, type C1 ⚠
p.Ala1258Asp Single submitter Niemann-Pick disease, type C1 ⚠
p.Ala1258Val Single submitter ⚠
p.Ala1262fs Single submitter
p.Ala155Ser Single submitter Niemann-Pick disease, type C1 ⚠
p.Ala159Val Single submitter Niemann-Pick disease, type C1 ⚠
p.Ala172Val Single submitter Niemann-Pick disease, type C1 ⚠
p.Ala181Asp Single submitter ⚠
p.Ala183Ser Single submitter Niemann-Pick disease, type C1 ⚠
p.Ala183Val Single submitter Niemann-Pick disease, type C1 ⚠
p.Ala223Gly Single submitter Niemann-Pick disease, type C1 ⚠
p.Ala267Gly Single submitter ⚠
p.Ala278Val Single submitter Niemann-Pick disease, type C1 ⚠
p.Ala289Gly Single submitter Niemann-Pick disease, type C1 ⚠
p.Ala310Asp Single submitter Inborn genetic diseases ⚠
p.Ala388Pro Single submitter Niemann-Pick disease, type C1 ⚠
p.Ala3Val Single submitter Niemann-Pick disease, type C1 ⚠
p.Ala427Gly Single submitter Niemann-Pick disease, type C1 ⚠
p.Ala470Pro Single submitter Niemann-Pick disease, type C1 ⚠
p.Ala582Asp Single submitter Niemann-Pick disease, type C1 ⚠
p.Ala659Thr Single submitter Niemann-Pick disease, type C1 ⚠
p.Ala767Gly Single submitter Niemann-Pick disease, type C1 ⚠
p.Ala885= Single submitter
p.Ala927Thr Single submitter Niemann-Pick disease, type C1 ⚠
p.Ala938Thr Single submitter Niemann-Pick disease, type C1 ⚠
p.Arg1077Gly Single submitter Niemann-Pick disease, type C1 ⚠
p.Arg116Gln Single submitter Niemann-Pick disease, type C1 ⚠
p.Arg1183Cys Single submitter Niemann-Pick disease, type C1 ⚠
p.Arg1227Gly Single submitter Niemann-Pick disease, type C1 ⚠
p.Arg1227Met Single submitter Niemann-Pick disease, type C1 ⚠
p.Arg1227Thr Single submitter Niemann-Pick disease, type C1 ⚠
p.Arg1266His Single submitter Niemann-Pick disease, type C1
p.Arg1266Leu Single submitter Niemann-Pick disease, type C1 ⚠
p.Arg1274Leu Single submitter Niemann-Pick disease, type C1 ⚠
p.Arg296Gln Single submitter Niemann-Pick disease, type C1 ⚠
p.Arg296Leu Single submitter Niemann-Pick disease, type C1 ⚠
p.Arg296Trp Single submitter Niemann-Pick disease, type C1 ⚠
p.Arg336Lys Single submitter Niemann-Pick disease, type C1 ⚠
p.Arg337Trp Single submitter Niemann-Pick disease, type C1 ⚠
p.Arg341Cys Single submitter Niemann-Pick disease, type C1 ⚠
p.Arg341Pro Single submitter Niemann-Pick disease, type C1 ⚠
p.Arg348Gln Single submitter Niemann-Pick disease, type C1 ⚠
p.Arg411Trp Single submitter Niemann-Pick disease, type C1 ⚠
p.Arg607Gln Single submitter Niemann-Pick disease, type C1 ⚠
p.Arg647Ser Single submitter Niemann-Pick disease, type C1 ⚠
p.Arg711Ser Single submitter Inborn genetic diseases ⚠
p.Arg78Trp Single submitter Niemann-Pick disease, type C1 ⚠
p.Arg819His Single submitter Niemann-Pick disease, type C1 ⚠
p.Arg997Ser Single submitter Niemann-Pick disease, type C1 ⚠
p.Asn1008His Single submitter ⚠
p.Asn103Lys Single submitter ⚠
p.Asn1064= Single submitter
p.Asn106Asp Single submitter Niemann-Pick disease, type C1 ⚠
p.Asn1072Ser Single submitter Niemann-Pick disease, type C1 ⚠
p.Asn1101Lys Single submitter ⚠
p.Asn1101Ser Single submitter Niemann-Pick disease, type C1 ⚠
p.Asn1137Ser Single submitter Niemann-Pick disease, type C1 ⚠
p.Asn1277Ser Single submitter Niemann-Pick disease, type C1 ⚠
p.Asn1277Thr Single submitter Niemann-Pick disease, type C1 ⚠
p.Asn135His Single submitter Niemann-Pick disease, type C1 ⚠
p.Asn195Ile Single submitter Niemann-Pick disease, type C1 ⚠
p.Asn308His Single submitter Niemann-Pick disease, type C1 ⚠
p.Asn376Asp Single submitter Niemann-Pick disease, type C1 ⚠
p.Asn598His Single submitter Inborn genetic diseases ⚠
p.Asn701Ser Single submitter Niemann-Pick disease, type C1
p.Asn70Tyr Single submitter Niemann-Pick disease, type C1 ⚠
p.Asn86Thr Single submitter Niemann-Pick disease, type C1 ⚠
p.Asn916Lys Single submitter ⚠
p.Asn961Asp Single submitter ⚠
p.Asp1097Glu Single submitter Niemann-Pick disease, type C1 ⚠
p.Asp128Gly Single submitter Niemann-Pick disease, type C1 ⚠
p.Asp211Asn Single submitter Niemann-Pick disease, type C1 ⚠
p.Asp211Tyr Single submitter Niemann-Pick disease, type C1 ⚠
p.Asp416Glu Single submitter Niemann-Pick disease, type C1 ⚠
p.Asp416Gly Single submitter Niemann-Pick disease, type C1 ⚠
p.Asp436Asn Single submitter Niemann-Pick disease, type C1 ⚠
p.Asp445Tyr Single submitter Niemann-Pick disease, type C1 ⚠
p.Asp508Asn Single submitter Niemann-Pick disease, type C1 ⚠
p.Asp531His Single submitter ⚠
p.Asp551= Single submitter Niemann-Pick disease, type C1
p.Asp552Tyr Single submitter Niemann-Pick disease, type C1 ⚠
p.Asp552Val Single submitter ⚠
p.Asp57Asn Single submitter Niemann-Pick disease, type C1 ⚠
p.Asp721Asn Single submitter Niemann-Pick disease, type C1 ⚠
p.Asp806Gly Single submitter Niemann-Pick disease, type C1 ⚠
p.Asp832Val Single submitter ⚠
p.Asp85Glu Single submitter Niemann-Pick disease, type C1 ⚠
p.Asp868Ala Single submitter ⚠
p.Cys1119Tyr Single submitter Niemann-Pick disease, type C1 ⚠
p.Cys1161Arg Single submitter ⚠
p.Cys1161Ser Single submitter ⚠
p.Cys16Tyr Single submitter Niemann-Pick disease, type C1 ⚠
p.Cys243Ser Single submitter Niemann-Pick disease, type C1 ⚠
p.Cys31Arg Single submitter Niemann-Pick disease, type C1 ⚠
p.Cys516Trp Single submitter Niemann-Pick disease, type C1 ⚠
p.Cys74Tyr Single submitter ⚠
p.Cys967Phe Single submitter NPC1-related disorder ⚠
p.Gln1046His Single submitter Niemann-Pick disease, type C1 ⚠
p.Gln1219Arg Single submitter ⚠
p.Gln136Arg Single submitter Inborn genetic diseases ⚠
p.Gln23His Single submitter ⚠
p.Gln252His Single submitter Niemann-Pick disease, type C1 ⚠
p.Gln397Arg Single submitter Niemann-Pick disease, type C1 ⚠
p.Gln438Lys Single submitter Niemann-Pick disease, type C1 ⚠
p.Gln790Arg Single submitter Niemann-Pick disease, type C1 ⚠
p.Gln811Arg Single submitter Niemann-Pick disease, type C1 ⚠
p.Gln811Glu Single submitter Niemann-Pick disease, type C1 ⚠
p.Gln953Arg Single submitter Niemann-Pick disease, type C1 ⚠
p.Glu110Gln Single submitter Niemann-Pick disease, type C1 ⚠
p.Glu1166Lys Single submitter ⚠
p.Glu1188Gln Single submitter Niemann-Pick disease, type C1 ⚠
p.Glu1188Lys Single submitter Niemann-Pick disease, type C1 ⚠
p.Glu1273Gly Single submitter Niemann-Pick disease, type C1 ⚠
p.Glu127Gln Single submitter Niemann-Pick disease, type C1 ⚠
p.Glu218Gln Single submitter Niemann-Pick disease, type C1 ⚠
p.Glu320Lys Single submitter Niemann-Pick disease, type C1 ⚠
p.Glu391Ala Single submitter Niemann-Pick disease, type C1 ⚠