NPC2 — 278 ClinVar variants
All ClinVar germline NPC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →
22 Pathogenic · 6 Pathogenic/Likely pathogenic · 28 Likely pathogenic · 13 Conflicting · 5 Benign · 5 Benign/Likely benign · 133 Likely benign · 66 Uncertain significance
Full NPC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 48
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 agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
NPC2 p.Cys93Phe
Conflicting
Single submitter
Niemann-Pick disease, type C2
-
NPC2 p.Pro120Thr
Conflicting
Single submitter
Niemann-Pick disease, type C2
Predictors lean, ClinVar uncertain 36
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
NPC2 p.Asn111Lys
Uncertain significance
Multiple submitters
Niemann-Pick disease, type C2
-
NPC2 p.Asn98His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NPC2 p.Gln136Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NPC2 p.Glu20Lys
Uncertain significance
Multiple submitters
Niemann-Pick disease, type C2
-
NPC2 p.Lys25Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NPC2 p.Lys71Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NPC2 p.Pro88Ser
Uncertain significance
Multiple submitters
Niemann-Pick disease, type C2
-
NPC2 p.Ser29Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NPC2 p.Val39Met
Uncertain significance
Multiple submitters
Niemann-Pick disease, type C2
-
NPC2 p.Val57Ile
Uncertain significance
Multiple submitters
Niemann-Pick disease, type C2
-
NPC2 p.Ala5Thr
Uncertain significance
Single submitter
Niemann-Pick disease, type C2
-
NPC2 p.Arg2Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
NPC2 p.Cys47Phe
Uncertain significance
Single submitter
Niemann-Pick disease, type C2
-
NPC2 p.Cys99Phe
Uncertain significance
Single submitter
Niemann-Pick disease, type C2
-
NPC2 p.Gln146Arg
Uncertain significance
Single submitter
Niemann-Pick disease, type C2
-
NPC2 p.Gly32Arg
Uncertain significance
Single submitter
Niemann-Pick disease, type C2
-
NPC2 p.His75Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
NPC2 p.Ile101Met
Uncertain significance
Single submitter
Niemann-Pick disease, type C2
-
NPC2 p.Ile34Val
Uncertain significance
Single submitter
Niemann-Pick disease, type C2
-
NPC2 p.Leu130Phe
Uncertain significance
Single submitter
Niemann-Pick disease, type C2
-
NPC2 p.Leu49Pro
Uncertain significance
Single submitter
Niemann-Pick disease, type C2
-
NPC2 p.Leu78Val
Uncertain significance
Single submitter
Niemann-Pick disease, type C2
-
NPC2 p.Lys112Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
NPC2 p.Lys134Gln
Uncertain significance
Single submitter
Niemann-Pick disease, type C2
-
NPC2 p.Lys68Glu
Uncertain significance
Single submitter
Niemann-Pick disease, type C2
-
NPC2 p.Lys68Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
NPC2 p.Pro100Thr
Uncertain significance
Single submitter
Niemann-Pick disease, type C2
-
NPC2 p.Pro21Gln
Uncertain significance
Single submitter
Niemann-Pick disease, type C2
-
NPC2 p.Ser117Arg
Uncertain significance
Single submitter
Niemann-Pick disease, type C2
-
NPC2 p.Ser54Cys
Uncertain significance
Single submitter
Niemann-Pick disease, type C2
-
NPC2 p.Thr44Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
NPC2 p.Val125Leu
Uncertain significance
Single submitter
Niemann-Pick disease, type C2
-
NPC2 p.Val81Ile
Uncertain significance
Single submitter
Niemann-Pick disease, type C2
-
NPC2 p.Ala12Thr
Uncertain significance
No assertion criteria
Niemann-Pick disease, type C2
-
NPC2 p.Ile65Val
Uncertain significance
No assertion criteria
Niemann-Pick disease, type C2
-
NPC2 p.Leu110Arg
Uncertain significance
No assertion criteria
Niemann-Pick disease, type C2
Predictors split 10
The independent predictors disagree with each other — read with care.
-
NPC2 p.Ala19Asp
Uncertain significance
Multiple submitters
Niemann-Pick disease, type C2
-
NPC2 p.Asp91Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NPC2 p.Gln102Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NPC2 p.Asn64Ile
Uncertain significance
Single submitter
Niemann-Pick disease, type C2
-
NPC2 p.Glu127Asp
Uncertain significance
Single submitter
Niemann-Pick disease, type C2
-
NPC2 p.Gly28Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
NPC2 p.Lys94Glu
Uncertain significance
Single submitter
Niemann-Pick disease, type C2
-
NPC2 p.Thr44Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
NPC2 p.Val73Met
Uncertain significance
Single submitter
Niemann-Pick disease, type C2
-
NPC2 p.Ile77Phe
Uncertain significance
No assertion criteria
Niemann-Pick disease, type C2
All NPC2 variants
Pathogenic 22
- p.Cys47Ter Multiple submitters Inborn genetic diseases
- p.Cys99Arg Multiple submitters Niemann-Pick disease, type C2
- p.Glu118Ter Multiple submitters Niemann-Pick disease type C
- p.Glu20Ter Multiple submitters Inborn genetic diseases
- p.Tyr55Ter Multiple submitters Niemann-Pick disease, type C2
- p.Ala5fs Single submitter Niemann-Pick disease, type C2
- p.Asn111fs Single submitter Niemann-Pick disease, type C2
- p.Cys27fs Single submitter Niemann-Pick disease, type C2
- p.Gln136Ter Single submitter Niemann-Pick disease, type C2
- p.Gln146Ter Single submitter Niemann-Pick disease type C
- p.Gln53Ter Single submitter Niemann-Pick disease, type C2
- p.Glu36Ter Single submitter Niemann-Pick disease, type C2
- p.Ile97fs Single submitter Niemann-Pick disease
- p.Met1Arg Single submitter Niemann-Pick disease, type C2
- p.Met1Lys Single submitter Niemann-Pick disease, type C2
- p.Ser95fs Single submitter Niemann-Pick disease, type C2
- p.Thr44fs Single submitter Niemann-Pick disease, type C2
- p.Trp141Ter Single submitter Niemann-Pick disease, type C2
- c.82+2T>C No assertion criteria Niemann-Pick disease, type C2
- p.Leu10fs No assertion criteria Niemann-Pick disease, type C2
- p.Ser67Pro No assertion criteria Niemann-Pick disease, type C2
- p.Thr7fs No assertion criteria Niemann-Pick disease, type C2
Pathogenic/Likely pathogenic 6
- c.190+5G>A Multiple submitters Niemann-Pick disease, type C2
- p.Ala72fs Multiple submitters Niemann-Pick disease, type C2
- p.Gln45Ter Multiple submitters Niemann-Pick disease type C
- p.Lys94Ter Multiple submitters Niemann-Pick disease type C
- p.Met1Ile Multiple submitters Niemann-Pick disease type C
- p.Pro120Ser Multiple submitters Niemann-Pick disease type C
Likely pathogenic 28
- c.190+1G>C Single submitter Niemann-Pick disease, type C2
- c.191-1_193del Single submitter Niemann-Pick disease, type C2
- c.191-1G>A Single submitter Niemann-Pick disease, type C2
- c.363+1G>A Single submitter Niemann-Pick disease, type C2
- c.364-2A>G Single submitter Niemann-Pick disease, type C2
- c.83-2A>T Single submitter Niemann-Pick disease, type C2
- p.Asp31fs Single submitter Niemann-Pick disease, type C2
- p.Cys99Ter Single submitter Niemann-Pick disease, type C2
- p.Cys99Trp Single submitter Niemann-Pick disease, type C2
- p.Gln102Ter Single submitter Niemann-Pick disease, type C2
- p.Gln23Ter Single submitter Niemann-Pick disease, type C2
- p.Gln48Ter Single submitter Niemann-Pick disease, type C2
- p.Gly52Ter Single submitter Niemann-Pick disease, type C2
- p.Lys112fs Single submitter Niemann-Pick disease, type C2
- p.Lys112Ter Single submitter Niemann-Pick disease, type C2
- p.Lys68Ter Single submitter Niemann-Pick disease, type C2
- p.Pro84fs Single submitter Niemann-Pick disease, type C2
- p.Ser40Ter Single submitter Niemann-Pick disease, type C2
- p.Ser50fs Single submitter Niemann-Pick disease, type C2
- p.Ter152LeuextTer? Single submitter Niemann-Pick disease, type C2
- p.Thr62fs Single submitter Niemann-Pick disease, type C2
- p.Tyr109fs Single submitter Niemann-Pick disease, type C2
- p.Tyr119Ter Single submitter Niemann-Pick disease, type C2
- p.Val22fs Single submitter Niemann-Pick disease, type C2
- p.Val30fs Single submitter Niemann-Pick disease, type C2
- p.Val73fs Single submitter Niemann-Pick disease, type C2
- p.Met1Thr No assertion criteria Niemann-Pick disease, type C2
- p.Met1Val No assertion criteria Niemann-Pick disease, type C2
Conflicting classifications of pathogenicity 13
- c.191-8T>C Single submitter Niemann-Pick disease, type C2
- c.363+7G>A Single submitter Niemann-Pick disease, type C2
- c.441+1G>A Single submitter Niemann-Pick disease, type C2
- c.*295C>G Single submitter Niemann-Pick disease, type C1
- p.Asp91= Single submitter Inborn genetic diseases
- p.Cys140del Single submitter Niemann-Pick disease, type C2
- p.Cys93Phe Single submitter Niemann-Pick disease, type C2 ⚠
- p.Gly80= Single submitter Niemann-Pick disease, type C2
- p.His150= Single submitter Inborn genetic diseases
- p.Pro120Thr Single submitter Niemann-Pick disease, type C2 ⚠
- p.Pro88= Single submitter Inborn genetic diseases
- p.Pro90= Single submitter Inborn genetic diseases
- p.Ser56= Single submitter Inborn genetic diseases
Benign 5
- c.363+154A>G Multiple submitters
- c.191-14dup Single submitter Niemann-Pick disease, type C2
- c.191-186T>G Single submitter
- c.191-187_191-186insG Single submitter
- c.363+117_363+118insAGC Single submitter
Benign/Likely benign 5
- c.190+14G>A Multiple submitters Niemann-Pick disease, type C2
- c.442-4A>C Multiple submitters Niemann-Pick disease, type C2
- c.*271C>T Multiple submitters Niemann-Pick disease, type C1
- c.*9T>C Multiple submitters Niemann-Pick disease, type C1
- p.Val30Met Multiple submitters Niemann-Pick disease, type C2
Likely benign 133
- c.441+68C>T Multiple submitters
- p.Ala72= Multiple submitters Inborn genetic diseases
- p.Leu10= Multiple submitters Inborn genetic diseases
- p.Leu110= Multiple submitters Inborn genetic diseases
- p.Pro41= Multiple submitters Niemann-Pick disease, type C2
- p.Pro43= Multiple submitters Niemann-Pick disease, type C2
- c.190+14G>T Single submitter Niemann-Pick disease, type C2
- c.190+16T>C Single submitter Niemann-Pick disease, type C2
- c.190+17C>G Single submitter Niemann-Pick disease, type C2
- c.190+17C>T Single submitter Niemann-Pick disease, type C2
- c.190+6dup Single submitter Niemann-Pick disease, type C2
- c.191-10T>C Single submitter Niemann-Pick disease, type C2
- c.191-14T>C Single submitter Niemann-Pick disease, type C2
- c.191-187_191-186insTTG Single submitter
- c.191-18del Single submitter Niemann-Pick disease, type C2
- c.191-18T>C Single submitter Niemann-Pick disease, type C2
- c.191-260G>A Single submitter
- c.191-4T>A Single submitter Niemann-Pick disease, type C2
- c.191-7C>G Single submitter Niemann-Pick disease, type C2
- c.363+10A>G Single submitter Niemann-Pick disease, type C2
- c.363+13A>G Single submitter Niemann-Pick disease, type C2
- c.363+16_363+18del Single submitter Niemann-Pick disease, type C2
- c.363+17T>C Single submitter Niemann-Pick disease, type C2
- c.363+18T>A Single submitter Niemann-Pick disease, type C2
- c.363+20A>G Single submitter Niemann-Pick disease, type C2
- c.363+3A>G Single submitter
- c.363+9T>C Single submitter Niemann-Pick disease, type C2
- c.364-10C>T Single submitter Niemann-Pick disease, type C2
- c.364-11T>C Single submitter Niemann-Pick disease, type C2
- c.364-13T>C Single submitter Niemann-Pick disease, type C2
- c.364-20T>C Single submitter Niemann-Pick disease, type C2
- c.364-20T>G Single submitter Niemann-Pick disease, type C2
- c.364-8T>G Single submitter Niemann-Pick disease, type C2
- c.441+10T>C Single submitter Niemann-Pick disease, type C2
- c.441+11C>G Single submitter Niemann-Pick disease, type C2
- c.441+12T>C Single submitter Niemann-Pick disease, type C2
- c.441+13G>A Single submitter Niemann-Pick disease, type C2
- c.441+13G>T Single submitter Niemann-Pick disease, type C2
- c.441+14G>C Single submitter Niemann-Pick disease, type C2
- c.441+16G>T Single submitter Niemann-Pick disease, type C2
- c.441+17G>C Single submitter Niemann-Pick disease, type C2
- c.441+193dup Single submitter
- c.441+8T>C Single submitter Niemann-Pick disease, type C2
- c.441+9A>G Single submitter Niemann-Pick disease, type C2
- c.441+9A>T Single submitter Niemann-Pick disease, type C2
- c.442-101G>T Single submitter
- c.442-10A>G Single submitter Niemann-Pick disease, type C2
- c.442-13A>G Single submitter Niemann-Pick disease, type C2
- c.442-17G>A Single submitter Niemann-Pick disease, type C2
- c.442-17G>C Single submitter Niemann-Pick disease, type C2
- c.442-4A>G Single submitter Niemann-Pick disease, type C2
- c.442-8A>C Single submitter Niemann-Pick disease, type C2
- c.442-8A>G Single submitter Niemann-Pick disease, type C2
- c.442-9C>T Single submitter Niemann-Pick disease, type C2
- c.82+10A>C Single submitter Niemann-Pick disease, type C2
- c.82+12G>A Single submitter Niemann-Pick disease, type C2
- c.82+13C>A Single submitter Niemann-Pick disease, type C2
- c.82+15C>A Single submitter Niemann-Pick disease, type C2
- c.82+15C>G Single submitter Niemann-Pick disease, type C2
- c.82+15C>T Single submitter Niemann-Pick disease, type C2
- c.82+16G>A Single submitter Niemann-Pick disease, type C2
- c.82+17C>T Single submitter Niemann-Pick disease, type C2
- c.82+295G>A Single submitter
- c.82+6dup Single submitter Niemann-Pick disease, type C2
- c.82+7C>T Single submitter Niemann-Pick disease, type C2
- c.82+8C>G Single submitter Niemann-Pick disease, type C2
- c.82+9C>T Single submitter Niemann-Pick disease, type C2
- c.83-11T>C Single submitter Niemann-Pick disease, type C2
- c.83-15A>G Single submitter Niemann-Pick disease, type C2
- c.83-19A>G Single submitter Niemann-Pick disease, type C2
- c.83-20A>G Single submitter Niemann-Pick disease, type C2
- c.83-4G>A Single submitter Niemann-Pick disease, type C2
- c.83-4G>T Single submitter Niemann-Pick disease, type C2
- c.83-5T>C Single submitter Niemann-Pick disease, type C2
- c.83-8T>G Single submitter Niemann-Pick disease, type C2
- c.*154G>A Single submitter
- c.*252del Single submitter
- p.Ala12= Single submitter Niemann-Pick disease, type C2
- p.Ala17= Single submitter Niemann-Pick disease, type C2
- p.Ala19= Single submitter Niemann-Pick disease, type C2
- p.Ala5= Single submitter Niemann-Pick disease, type C2
- p.Ala6= Single submitter
- p.Asn98= Single submitter Niemann-Pick disease, type C2
- p.Asp104= Single submitter Niemann-Pick disease, type C2
- p.Cys93= Single submitter Niemann-Pick disease, type C2
- p.Gln131= Single submitter Niemann-Pick disease, type C2
- p.Gln18= Single submitter Niemann-Pick disease, type C2
- p.Gln23= Single submitter Niemann-Pick disease, type C2
- p.Glu36= Single submitter Niemann-Pick disease, type C2
- p.Glu89= Single submitter Niemann-Pick disease, type C2
- p.Gly92= Single submitter Niemann-Pick disease, type C2
- p.Ile143= Single submitter Niemann-Pick disease, type C2
- p.Leu124= Single submitter Niemann-Pick disease, type C2
- p.Leu13= Single submitter Niemann-Pick disease, type C2
- p.Leu138= Single submitter Niemann-Pick disease, type C2
- p.Leu151= Single submitter Niemann-Pick disease, type C2
- p.Leu4= Single submitter Niemann-Pick disease, type C2
- p.Leu49= Single submitter Niemann-Pick disease, type C2
- p.Leu78= Single submitter Niemann-Pick disease, type C2
- p.Leu9= Single submitter Niemann-Pick disease, type C2
- p.Lys105= Single submitter Niemann-Pick disease, type C2
- p.Lys94= Single submitter Inborn genetic diseases
- p.Phe24= Single submitter Niemann-Pick disease, type C2
- p.Phe3= Single submitter Niemann-Pick disease, type C2
- p.Phe61= Single submitter Niemann-Pick disease, type C2
- p.Pro100= Single submitter Niemann-Pick disease, type C2
- p.Pro114= Single submitter Niemann-Pick disease, type C2
- p.Pro120= Single submitter Niemann-Pick disease, type C2
- p.Pro144= Single submitter Niemann-Pick disease, type C2
- p.Pro21= Single submitter Niemann-Pick disease, type C2
- p.Pro82= Single submitter Niemann-Pick disease, type C2
- p.Pro84= Single submitter Niemann-Pick disease, type C2
- p.Pro86= Single submitter Niemann-Pick disease, type C2
- p.Ser117= Single submitter Niemann-Pick disease, type C2
- p.Ser40= Single submitter Niemann-Pick disease, type C2
- p.Ser50= Single submitter Niemann-Pick disease, type C2
- p.Ser69= Single submitter Niemann-Pick disease, type C2
- p.Ter152= Single submitter Niemann-Pick disease, type C2
- p.Thr106= Single submitter Niemann-Pick disease, type C2
- p.Thr15= Single submitter Niemann-Pick disease, type C2
- p.Thr44= Single submitter Niemann-Pick disease, type C2
- p.Thr62= Single submitter Niemann-Pick disease, type C2
- p.Thr7= Single submitter Niemann-Pick disease, type C2
- p.Tyr107= Single submitter Niemann-Pick disease, type C2
- p.Tyr109= Single submitter Niemann-Pick disease, type C2
- p.Tyr55= Single submitter Niemann-Pick disease, type C2
- p.Val125= Single submitter Niemann-Pick disease, type C2
- p.Val126= Single submitter Niemann-Pick disease, type C2
- p.Val39= Single submitter Niemann-Pick disease, type C2
- p.Val74= Single submitter Niemann-Pick disease, type C2
- c.441+24G>A No assertion criteria NPC2-related disorder
- c.-10_-9insGCG No assertion criteria NPC2-related disorder
- p.Lys134= No assertion criteria NPC2-related disorder
Uncertain significance 66
- c.190+4C>T Multiple submitters Niemann-Pick disease, type C2
- c.*237G>A Multiple submitters Niemann-Pick disease, type C1
- p.Ala19Asp Multiple submitters Niemann-Pick disease, type C2 ⚠
- p.Asn111Lys Multiple submitters Niemann-Pick disease, type C2 ⚠
- p.Asn98His Multiple submitters Inborn genetic diseases ⚠
- p.Asp91Asn Multiple submitters Inborn genetic diseases ⚠
- p.Gln102Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln136Glu Multiple submitters Inborn genetic diseases ⚠
- p.Glu118Lys Multiple submitters Niemann-Pick disease, type C2
- p.Glu20Lys Multiple submitters Niemann-Pick disease, type C2 ⚠
- p.Leu13Pro Multiple submitters Niemann-Pick disease, type C2
- p.Lys25Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys71Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro88Ser Multiple submitters Niemann-Pick disease, type C2 ⚠
- p.Ser29Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val39Met Multiple submitters Niemann-Pick disease, type C2 ⚠
- p.Val57Ile Multiple submitters Niemann-Pick disease, type C2 ⚠
- c.364-3C>T Single submitter Niemann-Pick disease, type C2
- c.82+6C>T Single submitter Niemann-Pick disease, type C2
- c.-1G>C Single submitter Niemann-Pick disease, type C2
- c.*115C>T Single submitter Niemann-Pick disease, type C1
- c.*2T>G Single submitter
- c.*86G>A Single submitter Niemann-Pick disease, type C1
- p.Ala5Thr Single submitter Niemann-Pick disease, type C2 ⚠
- p.Arg2Pro Single submitter Inborn genetic diseases ⚠
- p.Asn64Ile Single submitter Niemann-Pick disease, type C2 ⚠
- p.Cys47Phe Single submitter Niemann-Pick disease, type C2 ⚠
- p.Cys99Phe Single submitter Niemann-Pick disease, type C2 ⚠
- p.Gln146Arg Single submitter Niemann-Pick disease, type C2 ⚠
- p.Glu127Asp Single submitter Niemann-Pick disease, type C2 ⚠
- p.Gly28Asp Single submitter Inborn genetic diseases ⚠
- p.Gly32Arg Single submitter Niemann-Pick disease, type C2 ⚠
- p.His75Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile101Met Single submitter Niemann-Pick disease, type C2 ⚠
- p.Ile34Val Single submitter Niemann-Pick disease, type C2 ⚠
- p.Ile87Phe Single submitter Niemann-Pick disease, type C2
- p.Leu130Phe Single submitter Niemann-Pick disease, type C2 ⚠
- p.Leu49Pro Single submitter Niemann-Pick disease, type C2 ⚠
- p.Leu78Val Single submitter Niemann-Pick disease, type C2 ⚠
- p.Lys112Arg Single submitter Inborn genetic diseases ⚠
- p.Lys134Gln Single submitter Niemann-Pick disease, type C2 ⚠
- p.Lys68Glu Single submitter Niemann-Pick disease, type C2 ⚠
- p.Lys68Ile Single submitter Inborn genetic diseases ⚠
- p.Lys68Leu Single submitter Niemann-Pick disease, type C2
- p.Lys94Glu Single submitter Niemann-Pick disease, type C2 ⚠
- p.Pro100Thr Single submitter Niemann-Pick disease, type C2 ⚠
- p.Pro21Gln Single submitter Niemann-Pick disease, type C2 ⚠
- p.Ser117Arg Single submitter Niemann-Pick disease, type C2 ⚠
- p.Ser54Cys Single submitter Niemann-Pick disease, type C2 ⚠
- p.Ser54Pro Single submitter Niemann-Pick disease, type C2
- p.Thr44Ile Single submitter Inborn genetic diseases ⚠
- p.Thr44Pro Single submitter Inborn genetic diseases ⚠
- p.Val125Leu Single submitter Niemann-Pick disease, type C2 ⚠
- p.Val73Met Single submitter Niemann-Pick disease, type C2 ⚠
- p.Val81Ile Single submitter Niemann-Pick disease, type C2 ⚠
- c.441+30G>A No assertion criteria NPC2-related disorder
- c.441+66A>T No assertion criteria NPC2-related disorder
- c.442-1G>A No assertion criteria Niemann-Pick disease, type C2
- c.-7A>C No assertion criteria Niemann-Pick disease, type C2
- p.Ala12Thr No assertion criteria Niemann-Pick disease, type C2 ⚠
- p.Ala17Asp No assertion criteria Niemann-Pick disease, type C2
- p.Ile147Val No assertion criteria Niemann-Pick disease, type C2
- p.Ile65Val No assertion criteria Niemann-Pick disease, type C2 ⚠
- p.Ile77Phe No assertion criteria Niemann-Pick disease, type C2 ⚠
- p.Leu110Arg No assertion criteria Niemann-Pick disease, type C2 ⚠
- p.Ter152Gln No assertion criteria Niemann-Pick disease, type C2