ASAH2 — 40 ClinVar variants
All ClinVar germline ASAH2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
1 Likely benign · 39 Uncertain significance
Full ASAH2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
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 lean, ClinVar uncertain 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ASAH2 p.Ala22Thr Uncertain significance Single submitter
- ASAH2 p.Arg108Gln Uncertain significance Single submitter
- ASAH2 p.Arg140Cys Uncertain significance Single submitter
- ASAH2 p.Arg140Gly Uncertain significance Single submitter
- ASAH2 p.Arg140His Uncertain significance Single submitter
- ASAH2 p.Arg166Lys Uncertain significance Single submitter
- ASAH2 p.Asn468Ser Uncertain significance Single submitter
- ASAH2 p.Gln131His Uncertain significance Single submitter
- ASAH2 p.Glu367Gln Uncertain significance Single submitter
- ASAH2 p.Glu92Lys Uncertain significance Single submitter
- ASAH2 p.Gly113Val Uncertain significance Single submitter
- ASAH2 p.Gly122Arg Uncertain significance Single submitter
- ASAH2 p.Gly127Ser Uncertain significance Single submitter
- ASAH2 p.His41Tyr Uncertain significance Single submitter
- ASAH2 p.Ile33Val Uncertain significance Single submitter
- ASAH2 p.Ile378Val Uncertain significance Single submitter
- ASAH2 p.Ile38Val Uncertain significance Single submitter
- ASAH2 p.Met121Val Uncertain significance Single submitter
- ASAH2 p.Pro86Ala Uncertain significance Single submitter
- ASAH2 p.Ser368Phe Uncertain significance Single submitter
- ASAH2 p.Ser374Asn Uncertain significance Single submitter
- ASAH2 p.Tyr262His Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- ASAH2 p.Ala109Thr Uncertain significance Single submitter
- ASAH2 p.Ala69Thr Uncertain significance Single submitter
- ASAH2 p.Arg152Gln Uncertain significance Single submitter
- ASAH2 p.Arg361Cys Uncertain significance Single submitter
- ASAH2 p.Arg361Ser Uncertain significance Single submitter
- ASAH2 p.Arg66Cys Uncertain significance Single submitter
- ASAH2 p.Asp232Ala Uncertain significance Single submitter
- ASAH2 p.Gln165Glu Uncertain significance Single submitter
- ASAH2 p.Gly380Ala Uncertain significance Single submitter
- ASAH2 p.Ile33Met Uncertain significance Single submitter
- ASAH2 p.Leu169Met Uncertain significance Single submitter
- ASAH2 p.Lys330Asn Uncertain significance Single submitter
- ASAH2 p.Pro88Arg Uncertain significance Single submitter
- ASAH2 p.Ser157Asn Uncertain significance Single submitter
- ASAH2 p.Ser79Phe Uncertain significance Single submitter
- ASAH2 p.Ser85Cys Uncertain significance Single submitter
- ASAH2 p.Thr74Ile Uncertain significance Single submitter
All ASAH2 variants
Likely benign 1
- p.Ile133Leu Single submitter
Uncertain significance 39
- p.Ala109Thr Single submitter ⚠
- p.Ala22Thr Single submitter ⚠
- p.Ala69Thr Single submitter ⚠
- p.Arg108Gln Single submitter ⚠
- p.Arg140Cys Single submitter ⚠
- p.Arg140Gly Single submitter ⚠
- p.Arg140His Single submitter ⚠
- p.Arg152Gln Single submitter ⚠
- p.Arg166Lys Single submitter ⚠
- p.Arg361Cys Single submitter ⚠
- p.Arg361Ser Single submitter ⚠
- p.Arg66Cys Single submitter ⚠
- p.Asn468Ser Single submitter ⚠
- p.Asp232Ala Single submitter ⚠
- p.Gln131His Single submitter ⚠
- p.Gln165Glu Single submitter ⚠
- p.Glu367Gln Single submitter ⚠
- p.Glu92Lys Single submitter ⚠
- p.Gly113Val Single submitter ⚠
- p.Gly122Arg Single submitter ⚠
- p.Gly127Ser Single submitter ⚠
- p.Gly380Ala Single submitter ⚠
- p.His41Tyr Single submitter ⚠
- p.Ile33Met Single submitter ⚠
- p.Ile33Val Single submitter ⚠
- p.Ile378Val Single submitter ⚠
- p.Ile38Val Single submitter ⚠
- p.Leu169Met Single submitter ⚠
- p.Lys330Asn Single submitter ⚠
- p.Met121Val Single submitter ⚠
- p.Pro86Ala Single submitter ⚠
- p.Pro88Arg Single submitter ⚠
- p.Ser157Asn Single submitter ⚠
- p.Ser368Phe Single submitter ⚠
- p.Ser374Asn Single submitter ⚠
- p.Ser79Phe Single submitter ⚠
- p.Ser85Cys Single submitter ⚠
- p.Thr74Ile Single submitter ⚠
- p.Tyr262His Single submitter ⚠