HACL2 — 5 ClinVar variants

All ClinVar germline HACL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1 flagged for review →

4 Likely benign · 1 Uncertain significance

Full HACL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1

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 split 1

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

HACL2 p.Ala344Val Uncertain significance Single submitter

All HACL2 variants

Likely benign 4

p.Ala191= Single submitter
p.Ala339= Single submitter
p.Ala438= Single submitter
p.Leu601= Single submitter

Uncertain significance 1

p.Ala344Val Single submitter ⚠