PSAP — 947 ClinVar variants

All ClinVar germline PSAP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 263 flagged for review →

39 Pathogenic · 11 Pathogenic/Likely pathogenic · 47 Likely pathogenic · 46 Conflicting · 47 Benign · 16 Benign/Likely benign · 443 Likely benign · 298 Uncertain significance

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

⚑ Evidence disagreements 263

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 1

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

PSAP p.Glu359Ala Pathogenic/Likely pathogenic Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency

Predictors agree, ClinVar conflicts 16

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

PSAP p.Ala30Ser Conflicting Single submitter
Krabbe disease due to saposin A deficiency
PSAP p.Arg186His Conflicting Single submitter
combined PSAP deficiency
PSAP p.Arg421His Conflicting Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Glu379Asp Conflicting Single submitter
Inborn genetic diseases
PSAP p.Glu507Gln Conflicting Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Gly17Ser Conflicting Single submitter
Inborn genetic diseases
PSAP p.His486Tyr Conflicting Single submitter
Krabbe disease due to saposin A deficiency
PSAP p.Ile338Val Conflicting Single submitter
Krabbe disease due to saposin A deficiency
PSAP p.Ile86Asn Conflicting Single submitter
Inborn genetic diseases
PSAP p.Met76Lys Conflicting Single submitter
Krabbe disease due to saposin A deficiency
PSAP p.Pro189Ser Conflicting Single submitter
combined PSAP deficiency
PSAP p.Thr210Asn Conflicting Single submitter
Inborn genetic diseases
PSAP p.Thr334Ser Conflicting Single submitter
Krabbe disease due to saposin A deficiency
PSAP p.Thr363Met Conflicting Single submitter
combined PSAP deficiency
PSAP p.Thr38Ser Conflicting Single submitter
combined PSAP deficiency
PSAP p.Thr391Met Conflicting Single submitter
Krabbe disease due to saposin A deficiency

Predictors lean, ClinVar uncertain 205

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 205

PSAP p.Ala13Val Uncertain significance Multiple submitters
Inborn genetic diseases
PSAP p.Ala266Val Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Ala30Val Uncertain significance Multiple submitters
Inborn genetic diseases
PSAP p.Arg127Cys Uncertain significance Multiple submitters
combined PSAP deficiency
PSAP p.Arg127His Uncertain significance Multiple submitters
combined PSAP deficiency
PSAP p.Arg213Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PSAP p.Arg232His Uncertain significance Multiple submitters
Inborn genetic diseases
PSAP p.Arg392Trp Uncertain significance Multiple submitters
Inborn genetic diseases
PSAP p.Arg520His Uncertain significance Multiple submitters
Inborn genetic diseases
PSAP p.Asn157Ser Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Asp111Ala Uncertain significance Multiple submitters
Inborn genetic diseases
PSAP p.Asp196Asn Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Asp231Gly Uncertain significance Multiple submitters
Inborn genetic diseases
PSAP p.Asp312Gly Uncertain significance Multiple submitters
Inborn genetic diseases
PSAP p.Asp41Asn Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Glu139Lys Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Glu355Gln Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Glu516Lys Uncertain significance Multiple submitters
Inborn genetic diseases
PSAP p.Gly184Ser Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Gly365Ser Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Gly43Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PSAP p.His150Gln Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Ile240Met Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Ile240Val Uncertain significance Multiple submitters
Inborn genetic diseases
PSAP p.Ile432Phe Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Ile463Met Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Leu10Phe Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Leu233Val Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Leu433Val Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Leu4Pro Uncertain significance Multiple submitters
Inborn genetic diseases
PSAP p.Lys143Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PSAP p.Lys304Arg Uncertain significance Multiple submitters
combined PSAP deficiency
PSAP p.Lys310Glu Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Lys46Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PSAP p.Met257Leu Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Met279Val Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Phe474Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PSAP p.Pro301Leu Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Pro350Leu Uncertain significance Multiple submitters
combined PSAP deficiency
PSAP p.Pro394Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PSAP p.Pro472Leu Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Pro56Arg Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Pro98Leu Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Ser133Pro Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Ser140Phe Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Ser29Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PSAP p.Ser441Arg Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Trp32Gly Uncertain significance Multiple submitters
combined PSAP deficiency
PSAP p.Tyr113Asp Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Tyr248Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PSAP p.Tyr2Cys Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Tyr314His Uncertain significance Multiple submitters
Inborn genetic diseases
PSAP p.Val197Ile Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Val197Phe Uncertain significance Multiple submitters
PSAP p.Val268Ile Uncertain significance Multiple submitters
Inborn genetic diseases
PSAP p.Val287Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PSAP p.Val292Gly Uncertain significance Multiple submitters
Parkinson disease 24, autosomal dominant, susceptibility to
PSAP p.Val398Ile Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Val52Ile Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Ala13Ser Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Ala14Val Uncertain significance Single submitter
metachromatic leukodystrophy
PSAP p.Ala221Ser Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Ala238Thr Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Ala252Gly Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Ala341Val Uncertain significance Single submitter
PSAP p.Ala3Gly Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Ala3Thr Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Ala72Thr Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Arg232Cys Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Arg232Leu Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Arg392Gln Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Arg421Leu Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Asn136Ser Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Asn243Asp Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Asn505Ser Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Asn54Ser Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Asp239Asn Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Asp239Glu Uncertain significance Single submitter
PSAP p.Asp330Glu Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Asp340Asn Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Asp64Asn Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Cys25Arg Uncertain significance Single submitter
Inborn genetic diseases
PSAP p.Cys265Tyr Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Cys409Trp Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Cys42Tyr Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Cys451Tyr Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Cys512Arg Uncertain significance Single submitter
PSAP p.Cys66Gly Uncertain significance Single submitter
Inborn genetic diseases
PSAP p.Gln203Arg Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Gln260Arg Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Gln358His Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Gln358Leu Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Gln402Lys Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Gln448Glu Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Glu124Gln Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Glu147Lys Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Glu263Asp Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Glu306Lys Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Glu319Gly Uncertain significance Single submitter
PSAP p.Glu355Ala Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Glu356Ala Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Glu356Gly Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Glu359Lys Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Glu374Asp Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Glu375Gln Uncertain significance Single submitter
Inborn genetic diseases
PSAP p.Glu424Lys Uncertain significance Single submitter
PSAP p.Glu437Lys Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Glu468Asp Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Glu493Lys Uncertain significance Single submitter
Inborn genetic diseases
PSAP p.Glu84Val Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Gly129Ala Uncertain significance Single submitter
PSAP p.Gly236Val Uncertain significance Single submitter
PSAP p.Gly365Cys Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Gly390Val Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Gly407Ser Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.His399Tyr Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Ile109Leu Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Ile109Thr Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Ile109Val Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Ile120Val Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Ile159Phe Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Ile264Asn Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Ile329Met Uncertain significance Single submitter
Inborn genetic diseases
PSAP p.Ile496Thr Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Ile65Arg Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Leu118Pro Uncertain significance Single submitter
combined PSAP deficiency
PSAP p.Leu22Pro Uncertain significance Single submitter
Inborn genetic diseases
PSAP p.Leu353Val Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Leu369Pro Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Leu415Val Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Leu443Pro Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Leu489Phe Uncertain significance Single submitter
PSAP p.Leu4Phe Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Leu7Met Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Lys143Asn Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Lys152Asn Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Lys23Glu Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Lys262Glu Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Lys286Glu Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Lys351Gln Uncertain significance Single submitter
Inborn genetic diseases
PSAP p.Lys413Arg Uncertain significance Single submitter
Inborn genetic diseases
PSAP p.Lys425Arg Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Met164Leu Uncertain significance Single submitter
Inborn genetic diseases
PSAP p.Met164Val Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Met204Leu Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Met255Leu Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Met255Val Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Met259Val Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Met277Arg Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Met277Leu Uncertain significance Single submitter
PSAP-related disorder

Predictors split 41

The independent predictors disagree with each other — read with care.

PSAP p.Arg213Trp Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Gly43Glu Benign/Likely benign Multiple submitters
Inborn genetic diseases
PSAP p.His47Tyr Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Leu137Phe Uncertain significance Multiple submitters
Inborn genetic diseases
PSAP p.Met76Thr Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Pro499Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PSAP p.Ser133Cys Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Thr217Ile Pathogenic/Likely pathogenic Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Thr38Met Uncertain significance Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Val70Phe Likely benign Multiple submitters
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Arg421Cys Conflicting Single submitter
Krabbe disease due to saposin A deficiency
PSAP p.Asn215Ser Uncertain significance Single submitter
PSAP p.Asn332Asp Uncertain significance Single submitter
Inborn genetic diseases
PSAP p.Asn332Lys Uncertain significance Single submitter
Inborn genetic diseases
PSAP p.Asn80Ser Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Asp111Gly Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Asp200Gly Uncertain significance Single submitter
Inborn genetic diseases
PSAP p.Glu431Lys Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Glu459Lys Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Gly491Glu Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Ile175Thr Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Leu137Val Conflicting Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Lys429Asn Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Lys438Glu Uncertain significance Single submitter
Parkinson disease 24, autosomal dominant, susceptibility to
PSAP p.Lys494Met Uncertain significance Single submitter
Inborn genetic diseases
PSAP p.Met257Ile Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Met259Ile Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Met76Val Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Ser311Cys Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Ser354Leu Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Thr51Ile Uncertain significance Single submitter
PSAP p.Tyr113Asn Uncertain significance Single submitter
PSAP p.Tyr180Cys Uncertain significance Single submitter
PSAP p.Tyr244Cys Uncertain significance Single submitter
Inborn genetic diseases
PSAP p.Tyr244Ser Uncertain significance Single submitter
Inborn genetic diseases
PSAP p.Tyr418His Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Val361Met Uncertain significance Single submitter
metachromatic leukodystrophy due to saposin B deficiency
PSAP p.Asn174Lys Uncertain significance No assertion criteria
metachromatic leukodystrophy
PSAP p.Met259Thr Uncertain significance No assertion criteria
metachromatic leukodystrophy
PSAP p.Ser9Asn Uncertain significance No assertion criteria
metachromatic leukodystrophy
PSAP p.Thr334Asn Uncertain significance No assertion criteria
metachromatic leukodystrophy

All PSAP variants

Pathogenic 39

c.577-1G>T Multiple submitters Parkinson disease 24, autosomal dominant, susceptibility to
p.Gln50Ter Multiple submitters combined PSAP deficiency
p.Glu297Ter Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
p.Met1Leu Multiple submitters Gaucher disease due to saposin C deficiency
p.Met1Val Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
c.1192+1G>A Single submitter combined PSAP deficiency
c.577-2A>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.778-1889C>T Single submitter
p.Arg186fs Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Asp272fs Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Asp68fs Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Cys241Gly Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Cys66Arg Single submitter Parkinson disease 24, autosomal dominant, susceptibility to
p.Gln153Ter Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Gln203fs Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Gln34fs Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Gln402Ter Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Gln450Ter Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Glu224Ter Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Glu356Ter Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Glu374fs Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Glu468fs Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Gly129fs Single submitter Krabbe disease due to saposin A deficiency
p.Gly28fs Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Gly406fs Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Ile240_Cys241insTer Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Leu177fs Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Leu423fs Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Lys262fs Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Lys351fs Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Phe474fs Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Pro100fs Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Pro160fs Single submitter
p.Tyr447Ter Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Cys265fs No assertion criteria combined PSAP deficiency
p.Cys382Gly No assertion criteria Gaucher disease due to saposin C deficiency
p.Cys382Phe No assertion criteria Gaucher disease due to saposin C deficiency
p.Gln430Ter No assertion criteria Gaucher disease due to saposin C deficiency
p.Val70Gly No assertion criteria Krabbe disease due to saposin A deficiency

Pathogenic/Likely pathogenic 11

c.1005+1G>A Multiple submitters combined PSAP deficiency
p.Asn215His Multiple submitters PSAP-related disorder
p.Asn215Lys Multiple submitters Gaucher disease due to saposin C deficiency
p.Cys241Ser Multiple submitters Parkinson disease 24, autosomal dominant, susceptibility to
p.Cys241Ter Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
p.Gln203Ter Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
p.Glu276fs Multiple submitters Parkinson disease 24, autosomal dominant, susceptibility to
p.Glu359Ala Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Lys227del Multiple submitters Gaucher disease due to saposin C deficiency
p.Met1Arg Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
p.Thr217Ile Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠

Likely pathogenic 47

c.375+1G>T Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
c.576+1G>A Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
c.720+2_720+5del Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
c.721-1G>A Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
c.1005+1G>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1005+1G>T Single submitter combined PSAP deficiency
c.1006-1G>A Single submitter combined PSAP deficiency
c.1006-2_1017delinsT Single submitter combined PSAP deficiency
c.1006-2A>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1193-1G>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1350+1G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1351-1G>T Single submitter combined PSAP deficiency
c.1351-2A>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.174+2T>C Single submitter metachromatic leukodystrophy
c.250-1G>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.375+2T>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.41-17_42del Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.576+1G>T Single submitter metachromatic leukodystrophy
c.720+1G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.721-1G>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.777+1915C>A Single submitter metachromatic leukodystrophy
c.777+1G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.777+1G>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.778-2A>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.910-2A>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Ala39fs Single submitter PSAP-related disorder
p.Arg127fs Single submitter metachromatic leukodystrophy
p.Cys198Tyr Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Cys230Gly Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Cys315Ser Single submitter metachromatic leukodystrophy
p.Gln190Ter Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Glu24Ter Single submitter metachromatic leukodystrophy
p.Glu457Ter Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Glu459Ter Single submitter metachromatic leukodystrophy
p.Gly439fs Single submitter
p.Leu22fs Single submitter metachromatic leukodystrophy
p.Leu339fs Single submitter metachromatic leukodystrophy
p.Leu349Pro Single submitter metachromatic leukodystrophy
p.Leu353fs Single submitter metachromatic leukodystrophy
p.Leu433fs Single submitter metachromatic leukodystrophy
p.Leu477= Single submitter metachromatic leukodystrophy
p.Lys327fs Single submitter Parkinson disease 24, autosomal dominant, susceptibility to
p.Lys487Ter Single submitter metachromatic leukodystrophy
p.Ter525Trp Single submitter metachromatic leukodystrophy
p.Tyr447Ter Single submitter combined PSAP deficiency
c.1006-8_1021del No assertion criteria combined PSAP deficiency
p.Leu233Arg No assertion criteria combined PSAP deficiency

Conflicting classifications of pathogenicity 46

c.1192+6C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1350+10G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1432-3T>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1432-4A>G Single submitter Krabbe disease due to saposin A deficiency
c.1540-13TC[2] Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.174+9C>T Single submitter Krabbe disease due to saposin A deficiency
c.249+6C>T Single submitter Inborn genetic diseases
c.250-12G>A Single submitter combined PSAP deficiency
c.40+12G>A Single submitter combined PSAP deficiency
c.41-13G>C Single submitter combined PSAP deficiency
c.577-10T>C Single submitter Krabbe disease due to saposin A deficiency
c.721-13T>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.-28A>C Single submitter Krabbe disease due to saposin A deficiency
c.*122C>G Single submitter Krabbe disease due to saposin A deficiency
c.*376A>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.*737G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.*9A>G Single submitter combined PSAP deficiency
p.Ala266= Single submitter combined PSAP deficiency
p.Ala30Ser Single submitter Krabbe disease due to saposin A deficiency ⚠
p.Arg186His Single submitter combined PSAP deficiency ⚠
p.Arg421Cys Single submitter Krabbe disease due to saposin A deficiency ⚠
p.Arg421His Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Asn194= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Asn426= Single submitter combined PSAP deficiency
p.Cys382= Single submitter Gaucher disease due to saposin C deficiency
p.Cys63= Single submitter Krabbe disease due to saposin A deficiency
p.Glu379Asp Single submitter Inborn genetic diseases ⚠
p.Glu507Gln Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Gly17Ser Single submitter Inborn genetic diseases ⚠
p.His399= Single submitter Krabbe disease due to saposin A deficiency
p.His486Tyr Single submitter Krabbe disease due to saposin A deficiency ⚠
p.Ile208Ser Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Ile338Val Single submitter Krabbe disease due to saposin A deficiency ⚠
p.Ile86Asn Single submitter Inborn genetic diseases ⚠
p.Leu137Val Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Met259_Gln260insCys Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Met76Lys Single submitter Krabbe disease due to saposin A deficiency ⚠
p.Pro189Ser Single submitter combined PSAP deficiency ⚠
p.Ser352= Single submitter Gaucher disease due to saposin C deficiency
p.Thr210Asn Single submitter Inborn genetic diseases ⚠
p.Thr334Ser Single submitter Krabbe disease due to saposin A deficiency ⚠
p.Thr363Met Single submitter combined PSAP deficiency ⚠
p.Thr38Ser Single submitter combined PSAP deficiency ⚠
p.Thr391Met Single submitter Krabbe disease due to saposin A deficiency ⚠
p.Thr492= Single submitter Krabbe disease due to saposin A deficiency
p.Trp53Ter Single submitter metachromatic leukodystrophy due to saposin B deficiency

Benign 47

c.1005+129G>A Multiple submitters
c.1005+18C>T Multiple submitters Krabbe disease due to saposin A deficiency
c.1005+42C>G Multiple submitters
c.1193-26G>A Multiple submitters Krabbe disease due to saposin A deficiency
c.1431+116C>T Multiple submitters Krabbe disease due to saposin A deficiency
c.1432-147G>A Multiple submitters
c.1432-22C>T Multiple submitters combined PSAP deficiency
c.1540-34C>T Multiple submitters Krabbe disease due to saposin A deficiency
c.175-102C>A Multiple submitters
c.175-117C>T Multiple submitters
c.175-140A>C Multiple submitters
c.175-152C>T Multiple submitters
c.249+73C>T Multiple submitters
c.41-53C>T Multiple submitters
c.41-96G>A Multiple submitters
c.577-56G>A Multiple submitters
c.777+68T>C Multiple submitters
c.778-1756C>G Multiple submitters
c.778-270C>T Multiple submitters
c.909+32G>T Multiple submitters Krabbe disease due to saposin A deficiency
c.-10A>G Multiple submitters Krabbe disease due to saposin A deficiency
c.-4C>T Multiple submitters Krabbe disease due to saposin A deficiency
c.*775G>A Multiple submitters Krabbe disease due to saposin A deficiency
p.Thr26= Multiple submitters combined PSAP deficiency
c.1351-26A>G Single submitter
c.1431+78_1431+83del Single submitter
c.1539+215T>A Single submitter
c.1539+222A>T Single submitter
c.1539+235dup Single submitter
c.1540-272del Single submitter
c.1540-319G>A Single submitter
c.174+164C>T Single submitter
c.174+216T>C Single submitter
c.174+301C>T Single submitter
c.250-141A>G Single submitter
c.375+226G>A Single submitter
c.41-237C>T Single submitter
c.41-252A>G Single submitter
c.577-279C>T Single submitter
c.720+270dup Single submitter
c.721-287C>G Single submitter
c.777+1645del Single submitter
c.777+256_777+269del Single submitter
c.778-123del Single submitter
c.778-1822dup Single submitter
p.Lys107Gln Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1432-29C>G No assertion criteria PSAP-related disorder

Benign/Likely benign 16

c.1193-18C>T Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
c.1350+5G>A Multiple submitters combined PSAP deficiency
c.1351-14A>G Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
c.41-17G>A Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
c.-130T>C Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
c.*891G>A Multiple submitters Krabbe disease due to saposin A deficiency
p.Asp68= Multiple submitters combined PSAP deficiency
p.Gln190His Multiple submitters Krabbe disease due to saposin A deficiency
p.Gly43Glu Multiple submitters Inborn genetic diseases ⚠
p.Leu4Val Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
p.Leu6Phe Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
p.Pro460= Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
p.Ser112= Multiple submitters combined PSAP deficiency
p.Ser40= Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
p.Ser427= Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
p.Ser484= Multiple submitters Krabbe disease due to saposin A deficiency

Likely benign 443

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

c.1005+44C>T Multiple submitters
c.1006-12C>T Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
c.1006-130T>A Multiple submitters
c.1006-130T>C Multiple submitters
c.1006-20G>A Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
c.1006-21C>T Multiple submitters
c.1350+9C>T Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
c.175-16G>A Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
c.175-19C>A Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
c.175-83C>T Multiple submitters
c.249+37G>A Multiple submitters
c.250-5C>T Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
c.41-56G>A Multiple submitters
c.576+11G>A Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
p.Ala285= Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
p.Ala288= Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
p.Asp183= Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
p.Asp196= Multiple submitters Inborn genetic diseases
p.Cys409= Multiple submitters Inborn genetic diseases
p.Gln190= Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
p.Glu229= Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
p.Glu374= Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
p.His47= Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
p.Leu118= Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
p.Leu135= Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
p.Leu393= Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
p.Leu90= Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
p.Lys23= Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
p.Phe320= Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
p.Phe474= Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
p.Pro499= Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
p.Thr391= Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
p.Tyr2= Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
p.Tyr364= Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
p.Tyr458= Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
p.Val322= Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
p.Val70Phe Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
c.1005+11C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1005+12T>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1005+13C>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1005+15T>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1005+19A>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1006-11G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1006-11G>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1006-11G>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1006-11GT[2] Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1006-14C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1006-16C>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1006-19A>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1006-7G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1006-9G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1192+11G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1192+12G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1192+12G>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1192+13T>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1192+14G>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1192+17G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1192+18T>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1192+18T>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1192+20C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1192+7G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1192+7G>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1193-11C>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1193-12C>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1193-14G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1193-15T>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1193-17G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1193-17G>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1193-17G>T Single submitter
c.1193-18C>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1193-9C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1350+12G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1350+15G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1350+16G>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1350+17G>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1350+20G>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1350+7C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1350+8C>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1350+8C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1350+9C>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1350+9del Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1351-10T>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1351-10T>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1351-15C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1351-16C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1351-5T>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1351-9_1351-5del Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1351-9C>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1351-9C>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1431+11C>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1431+18G>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1431+19T>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1431+7C>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1432-16T>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1432-19T>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1432-20T>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1432-6A>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1539+11C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1539+14_1539+20del Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1539+17_1539+20del Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1539+18C>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1539+20G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1539+20G>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1540-10C>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1540-10C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1540-12C>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1540-14C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1540-19G>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1540-19G>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1540-20A>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1540-20A>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1540-4C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1540-5A>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1540-8_1540-7del Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1540-8C>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.1540-8C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.174+10G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.174+12T>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.174+15C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.174+16C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.174+17T>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.174+17T>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.174+20A>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.175-10T>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.175-11C>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.175-16G>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.175-17C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.175-5C>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.175-6T>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.175-7C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.175-8T>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.249+10G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.249+10G>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.249+11G>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.249+13G>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.249+15G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.249+15G>C Single submitter
c.249+192T>C Single submitter
c.249+19G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.249+20G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.249+7G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.249+8G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.249+9C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.250-10C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.250-12_250-11del Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.250-15G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.250-16T>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.250-17C>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.250-4G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.250-4G>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.250-7C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.250-9C>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.250-9C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.375+13G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.375+16T>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.375+18G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.375+208G>A Single submitter
c.375+20C>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.375+9T>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.376-10A>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.376-15_376-11dup Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.376-15T>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.376-4C>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.376-5A>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.376-6C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.376-8C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.376-9T>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.40+10G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.40+145CTTTCTCTGG[3] Single submitter
c.40+15C>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.40+16C>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.40+19A>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.40+200G>A Single submitter
c.40+7C>T Single submitter
c.40+8C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.40+9T>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.41-16T>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.41-17_41-9dup Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.41-17G>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.41-17G>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.41-18C>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.41-18C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.41-18del Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.41-19A>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.41-19dup Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.41-20C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.41-22_41-20del Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.41-7A>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.576+10C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.576+11G>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.576+13G>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.576+160G>C Single submitter
c.576+18C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.576+20A>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.576+213_576+214del Single submitter
c.576+7C>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.576+9_576+20del Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.576+9A>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.577-11C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.577-12C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.577-14T>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.577-7T>C Single submitter
c.577-7T>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.720+15C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.720+16T>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.720+287del Single submitter
c.720+7C>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.720+7C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.721-10C>G Single submitter
c.721-12C>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.721-19T>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.721-20A>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.721-20del Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.721-5C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.721-8C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.721-9T>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.777+10A>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.777+11C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.777+12G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.777+16G>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.777+18C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.777+19C>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.777+9C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.778-10C>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.778-10C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.778-13del Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.778-16T>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.778-1872C>T Single submitter
c.778-1874G>A Single submitter
c.778-1899dup Single submitter
c.778-19T>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.778-5T>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.778-6C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.778-8C>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.778-9T>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.909+12C>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.909+13A>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.909+17T>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.909+17T>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.909+18G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.909+7G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.909+8dup Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.910-13A>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.910-13A>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.910-13A>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.910-16_910-14del Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.910-18_910-15del Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.910-183G>T Single submitter
c.910-18C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.910-7T>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.910-8T>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.-29C>T Single submitter Gaucher disease due to saposin C deficiency
c.*12T>G Single submitter
p.Ala134= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Ala14= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Ala146= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Ala16= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Ala169= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Ala211= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Ala221= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Ala238= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Ala295= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Ala3= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Ala30= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Ala39= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Ala395= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Ala434= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Ala44= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Ala510= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Arg127= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Arg186= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Arg520= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Asn101= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Asn174= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Asn243= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Asp111= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Asp163= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Asp193Gly Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Asp193His Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Asp207= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Asp239= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Asp272= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Asp330= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Asp340= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Asp343= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Asp405= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Asp420= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Asp64= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Cys138= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Cys198= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Cys241= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Cys25= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Cys33= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Cys412= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Cys42= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Cys440= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Cys503= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Cys94= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Gln199= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Gln203= Single submitter metachromatic leukodystrophy due to saposin B deficiency

Uncertain significance 298

c.1350+4C>T Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
c.40+6C>T Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
c.-7C>T Multiple submitters neuromuscular disease
p.Ala13Val Multiple submitters Inborn genetic diseases ⚠
p.Ala266Val Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ala30Val Multiple submitters Inborn genetic diseases ⚠
p.Arg127Cys Multiple submitters combined PSAP deficiency ⚠
p.Arg127His Multiple submitters combined PSAP deficiency ⚠
p.Arg213Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg213Trp Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Arg232His Multiple submitters Inborn genetic diseases ⚠
p.Arg392Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg520His Multiple submitters Inborn genetic diseases ⚠
p.Asn157Ser Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Asn422Lys Multiple submitters Inborn genetic diseases
p.Asp111Ala Multiple submitters Inborn genetic diseases ⚠
p.Asp196Asn Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Asp231Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp312Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp41Asn Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Glu139Lys Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Glu355Gln Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Glu516Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly184Ser Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Gly365Ser Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Gly43Arg Multiple submitters Inborn genetic diseases ⚠
p.His150Gln Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.His47Tyr Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ile240Met Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ile240Val Multiple submitters Inborn genetic diseases ⚠
p.Ile432Phe Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ile463Met Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ile65Thr Multiple submitters Inborn genetic diseases
p.Leu10Phe Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Leu137Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu233Val Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Leu433Val Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Leu4Pro Multiple submitters Inborn genetic diseases ⚠
p.Lys143Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys304Arg Multiple submitters combined PSAP deficiency ⚠
p.Lys310Glu Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Lys46Asn Multiple submitters Inborn genetic diseases ⚠
p.Met257Leu Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Met279Val Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Met76Thr Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Phe474Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro301Leu Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Pro350Leu Multiple submitters combined PSAP deficiency ⚠
p.Pro394Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro472Leu Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Pro499Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro56Arg Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Pro56Ser Multiple submitters metachromatic leukodystrophy due to saposin B deficiency
p.Pro98Leu Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ser133Cys Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ser133Pro Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ser140Phe Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ser29Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser441Arg Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Thr38Met Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Trp32Gly Multiple submitters combined PSAP deficiency ⚠
p.Tyr113Asp Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Tyr248Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr2Cys Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Tyr314His Multiple submitters Inborn genetic diseases ⚠
p.Val197Ile Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Val197Phe Multiple submitters ⚠
p.Val268Ile Multiple submitters Inborn genetic diseases ⚠
p.Val287Leu Multiple submitters Inborn genetic diseases ⚠
p.Val292Gly Multiple submitters Parkinson disease 24, autosomal dominant, susceptibility to ⚠
p.Val398Ile Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Val52Ile Multiple submitters metachromatic leukodystrophy due to saposin B deficiency ⚠
c.1350+5G>T Single submitter combined PSAP deficiency
c.1539+6T>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.376-3C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.40+5G>A Single submitter metachromatic leukodystrophy
c.576+3A>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.577-3T>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.720+5G>A Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.721-11T>C Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.721-5_721-3del Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.777+1915C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.778-3C>T Single submitter
c.909+2T>G Single submitter
c.910-11T>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.910-6C>G Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.-22G>C Single submitter combined PSAP deficiency
c.*1008C>T Single submitter metachromatic leukodystrophy due to saposin B deficiency
c.*113C>T Single submitter Krabbe disease due to saposin A deficiency
c.*238G>C Single submitter autosomal recessive nonsyndromic hearing loss 12
c.*276G>A Single submitter Krabbe disease due to saposin A deficiency
c.*346C>T Single submitter combined PSAP deficiency
c.*526G>A Single submitter Krabbe disease due to saposin A deficiency
c.*574G>C Single submitter Krabbe disease due to saposin A deficiency
c.*596A>G Single submitter Gaucher disease due to saposin C deficiency
c.*73C>T Single submitter combined PSAP deficiency
c.*787C>T Single submitter combined PSAP deficiency
c.*859C>T Single submitter Krabbe disease due to saposin A deficiency
c.*90C>T Single submitter Krabbe disease due to saposin A deficiency
c.*935A>G Single submitter Krabbe disease due to saposin A deficiency
p.Ala13= Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Ala13Ser Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ala14Val Single submitter metachromatic leukodystrophy ⚠
p.Ala221Ser Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ala238Thr Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ala252Gly Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ala341Val Single submitter ⚠
p.Ala3Gly Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ala3Thr Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ala72Thr Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Arg232Cys Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Arg232Leu Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Arg392Gln Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Arg421Leu Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Arg520Cys Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Asn136Ser Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Asn215Ser Single submitter ⚠
p.Asn243Asp Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Asn332Asp Single submitter Inborn genetic diseases ⚠
p.Asn332del Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Asn332Lys Single submitter Inborn genetic diseases ⚠
p.Asn505Ser Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Asn54Ser Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Asn80Ser Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Asp111Gly Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Asp200Gly Single submitter Inborn genetic diseases ⚠
p.Asp239Asn Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Asp239Glu Single submitter ⚠
p.Asp330Glu Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Asp340Asn Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Asp64Asn Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Cys25Arg Single submitter Inborn genetic diseases ⚠
p.Cys265Tyr Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Cys409Trp Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Cys42Tyr Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Cys451Tyr Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Cys512Arg Single submitter ⚠
p.Cys66Gly Single submitter Inborn genetic diseases ⚠
p.Gln142Arg Single submitter Inborn genetic diseases
p.Gln203Arg Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Gln260Arg Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Gln358His Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Gln358Leu Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Gln402Lys Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Gln448Glu Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Gln450= Single submitter Inborn genetic diseases
p.Glu124Gln Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Glu147Lys Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Glu263Asp Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Glu306Lys Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Glu319Gly Single submitter ⚠
p.Glu355Ala Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Glu356Ala Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Glu356Gly Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Glu359Lys Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Glu374Asp Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Glu375Gln Single submitter Inborn genetic diseases ⚠
p.Glu424Lys Single submitter ⚠
p.Glu431Lys Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Glu437Lys Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Glu459Lys Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Glu468Asp Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Glu493Lys Single submitter Inborn genetic diseases ⚠
p.Glu84Val Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Gly129Ala Single submitter ⚠
p.Gly236Val Single submitter ⚠
p.Gly365Cys Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Gly390Val Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Gly407Ser Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Gly439Val Single submitter Inborn genetic diseases
p.Gly491Glu Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.His399Tyr Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.His521Arg Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Ile109Leu Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ile109Thr Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ile109Val Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ile120Val Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ile159Phe Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ile175Thr Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ile264Asn Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ile329Met Single submitter Inborn genetic diseases ⚠
p.Ile496Thr Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ile65Arg Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Leu118Pro Single submitter combined PSAP deficiency ⚠
p.Leu22Pro Single submitter Inborn genetic diseases ⚠
p.Leu353Val Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Leu369Pro Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Leu415Val Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Leu443= Single submitter combined PSAP deficiency
p.Leu443Pro Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Leu489Phe Single submitter ⚠
p.Leu4Phe Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Leu7Met Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Lys143Asn Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Lys152Asn Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Lys23Glu Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Lys262Glu Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Lys286Glu Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Lys351Gln Single submitter Inborn genetic diseases ⚠
p.Lys413Arg Single submitter Inborn genetic diseases ⚠
p.Lys425Arg Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Lys429Asn Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Lys438Glu Single submitter Parkinson disease 24, autosomal dominant, susceptibility to ⚠
p.Lys46Leu Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Lys494Met Single submitter Inborn genetic diseases ⚠
p.Met164Leu Single submitter Inborn genetic diseases ⚠
p.Met164Val Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Met204Leu Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Met255Leu Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Met255Val Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Met257Ile Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Met259Ile Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Met259Val Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Met277Arg Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Met277Leu Single submitter PSAP-related disorder ⚠
p.Met345Ile Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Met345Val Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Met76Val Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Phe5Leu Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Pro170Ala Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Pro185Ser Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Pro18Ala Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Pro18Arg Single submitter ⚠
p.Pro18Leu Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Pro308Leu Single submitter Krabbe disease due to saposin A deficiency ⚠
p.Pro350Arg Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Pro403Leu Single submitter Inborn genetic diseases ⚠
p.Pro446Ala Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ser289Pro Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ser29Trp Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Ser311Cys Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ser347Leu Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ser354Leu Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ser366Thr Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ser377Asn Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ser40Tyr Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ser427Asn Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Ser441Asn Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Ser484fs Single submitter
p.Thr206Ala Single submitter Inborn genetic diseases ⚠
p.Thr217Ser Single submitter ⚠
p.Thr26Ala Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Thr363Arg Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Thr401Pro Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Thr428Ala Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Thr51Asn Single submitter Inborn genetic diseases ⚠
p.Thr51Ile Single submitter ⚠
p.Tyr113Asn Single submitter ⚠
p.Tyr180Cys Single submitter ⚠
p.Tyr180His Single submitter Inborn genetic diseases ⚠
p.Tyr244Cys Single submitter Inborn genetic diseases ⚠
p.Tyr244Ser Single submitter Inborn genetic diseases ⚠
p.Tyr2Phe Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Tyr418His Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Val116Leu Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Val168Ala Single submitter Inborn genetic diseases ⚠
p.Val205dup Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Val283Leu Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Val361Met Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Val400Met Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Val416Met Single submitter Inborn genetic diseases
p.Val45Leu Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Val461Met Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Val69Ile Single submitter metachromatic leukodystrophy due to saposin B deficiency ⚠
p.Val70del Single submitter metachromatic leukodystrophy due to saposin B deficiency
p.Val88Ala Single submitter ⚠
c.-2C>G No assertion criteria metachromatic leukodystrophy
c.*3G>A No assertion criteria metachromatic leukodystrophy
p.Ala252Thr No assertion criteria metachromatic leukodystrophy ⚠
p.Asn174Lys No assertion criteria metachromatic leukodystrophy ⚠
p.Asn513Asp No assertion criteria metachromatic leukodystrophy ⚠
p.Asn524Ser No assertion criteria metachromatic leukodystrophy ⚠
p.Asp196Gly No assertion criteria metachromatic leukodystrophy ⚠
p.Cys138Arg No assertion criteria metachromatic leukodystrophy ⚠
p.Gln430Lys No assertion criteria metachromatic leukodystrophy ⚠
p.Glu161Gly No assertion criteria metachromatic leukodystrophy ⚠
p.Glu375Asp No assertion criteria metachromatic leukodystrophy ⚠
p.Glu437Gln No assertion criteria metachromatic leukodystrophy ⚠
p.Gly406= No assertion criteria metachromatic leukodystrophy
p.Gly406Ser No assertion criteria metachromatic leukodystrophy ⚠
p.His150Tyr No assertion criteria metachromatic leukodystrophy ⚠
p.His305Pro No assertion criteria metachromatic leukodystrophy ⚠
p.Ile121Thr No assertion criteria metachromatic leukodystrophy ⚠
p.Ile208Thr No assertion criteria metachromatic leukodystrophy ⚠
p.Lys37Arg No assertion criteria metachromatic leukodystrophy ⚠
p.Lys414= No assertion criteria metachromatic leukodystrophy
p.Lys519= No assertion criteria metachromatic leukodystrophy
p.Met255Ile No assertion criteria metachromatic leukodystrophy
p.Met259Thr No assertion criteria metachromatic leukodystrophy ⚠
p.Met277Ile No assertion criteria metachromatic leukodystrophy ⚠
p.Pro160Ser No assertion criteria metachromatic leukodystrophy ⚠
p.Pro446Leu No assertion criteria metachromatic leukodystrophy ⚠
p.Pro499Arg No assertion criteria metachromatic leukodystrophy ⚠
p.Ser9Asn No assertion criteria metachromatic leukodystrophy ⚠
p.Thr334Asn No assertion criteria metachromatic leukodystrophy ⚠
p.Val36Met No assertion criteria metachromatic leukodystrophy ⚠
p.Val400Leu No assertion criteria metachromatic leukodystrophy ⚠
p.Val475Leu No assertion criteria metachromatic leukodystrophy ⚠