ASAH2B — 7 ClinVar variants
All ClinVar germline ASAH2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 7 flagged for review →
7 Uncertain significance
Full ASAH2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 7
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 6
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ASAH2B c.-28A>G Uncertain significance Single submitter
- ASAH2B c.-34C>G Uncertain significance Single submitter
- ASAH2B c.-56C>T Uncertain significance Single submitter
- ASAH2B c.-5C>T Uncertain significance Single submitter
- ASAH2B c.-74C>A Uncertain significance Single submitter
- ASAH2B c.-76G>A Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.