HAO2 — 54 ClinVar variants
All ClinVar germline HAO2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
5 Likely benign · 49 Uncertain significance
Full HAO2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HAO2 p.Ala11Val Uncertain significance Single submitter
- HAO2 p.Arg22Gln Uncertain significance Single submitter
- HAO2 p.Asn324Asp Uncertain significance Single submitter
- HAO2 p.Asp285Glu Uncertain significance Single submitter
- HAO2 p.Cys296Phe Uncertain significance Single submitter
- HAO2 p.Gln172Lys Uncertain significance Single submitter
- HAO2 p.Glu122Ala Uncertain significance Single submitter
- HAO2 p.Glu122Lys Uncertain significance Single submitter
- HAO2 p.Glu89Gly Uncertain significance Single submitter
- HAO2 p.Gly79Ala Uncertain significance Single submitter
- HAO2 p.His12Tyr Uncertain significance Single submitter
- HAO2 p.Ile104Thr Uncertain significance Single submitter
- HAO2 p.Ile142Asn Uncertain significance Single submitter
- HAO2 p.Ile224Thr Uncertain significance Single submitter
- HAO2 p.Ile303Val Uncertain significance Single submitter
- HAO2 p.Ile73Thr Uncertain significance Single submitter
- HAO2 p.Leu83Phe Uncertain significance Single submitter
- HAO2 p.Pro49Leu Uncertain significance Single submitter
- HAO2 p.Ser110Thr Uncertain significance Single submitter
- HAO2 p.Ser32Asn Uncertain significance Single submitter
- HAO2 p.Thr197Ile Uncertain significance Single submitter
- HAO2 p.Thr333Ile Uncertain significance Single submitter
- HAO2 p.Val161Leu Uncertain significance Single submitter
Predictors split 28
The independent predictors disagree with each other — read with care.
- HAO2 p.Ala120Val Uncertain significance Single submitter
- HAO2 p.Ala289Thr Uncertain significance Single submitter
- HAO2 p.Ala93Gly Uncertain significance Single submitter
- HAO2 p.Ala98Glu Uncertain significance Single submitter
- HAO2 p.Arg170Gln Likely benign Single submitter
- HAO2 p.Arg281Gln Uncertain significance Single submitter
- HAO2 p.Arg301Lys Uncertain significance Single submitter
- HAO2 p.Arg48His Uncertain significance Single submitter
- HAO2 p.Arg50Trp Uncertain significance Single submitter
- HAO2 p.Asn138Asp Uncertain significance Single submitter
- HAO2 p.Asp31Glu Likely benign Single submitter
- HAO2 p.Cys204Tyr Uncertain significance Single submitter
- HAO2 p.Gln143His Uncertain significance Single submitter
- HAO2 p.Gln239Leu Uncertain significance Single submitter
- HAO2 p.Ile214Thr Uncertain significance Single submitter
- HAO2 p.Ile241Val Uncertain significance Single submitter
- HAO2 p.Ile258Thr Uncertain significance Single submitter
- HAO2 p.Ile69Ser Uncertain significance Single submitter
- HAO2 p.Leu113Val Uncertain significance Single submitter
- HAO2 p.Pro192Leu Uncertain significance Single submitter
- HAO2 p.Ser112Asn Uncertain significance Single submitter
- HAO2 p.Ser112Ile Uncertain significance Single submitter
- HAO2 p.Ser213Gly Uncertain significance Single submitter
- HAO2 p.Ser337Leu Uncertain significance Single submitter
- HAO2 p.Tyr130Cys Uncertain significance Single submitter
- HAO2 p.Tyr275Phe Uncertain significance Single submitter
- HAO2 p.Val234Met Uncertain significance Single submitter
- HAO2 p.Val338Phe Uncertain significance Single submitter
All HAO2 variants
Likely benign 5
- p.Arg170Gln Single submitter ⚠
- p.Arg22Trp Single submitter
- p.Arg343Gln Single submitter
- p.Asn342Ser Single submitter
- p.Asp31Glu Single submitter ⚠
Uncertain significance 49
- p.Ala11Val Single submitter ⚠
- p.Ala120Val Single submitter ⚠
- p.Ala289Thr Single submitter ⚠
- p.Ala93Gly Single submitter ⚠
- p.Ala98Glu Single submitter ⚠
- p.Arg22Gln Single submitter ⚠
- p.Arg281Gln Single submitter ⚠
- p.Arg301Lys Single submitter ⚠
- p.Arg48His Single submitter ⚠
- p.Arg50Trp Single submitter ⚠
- p.Asn138Asp Single submitter ⚠
- p.Asn324Asp Single submitter ⚠
- p.Asp285Glu Single submitter ⚠
- p.Cys204Tyr Single submitter ⚠
- p.Cys296Phe Single submitter ⚠
- p.Gln143His Single submitter ⚠
- p.Gln172Lys Single submitter ⚠
- p.Gln239Leu Single submitter ⚠
- p.Glu122Ala Single submitter ⚠
- p.Glu122Lys Single submitter ⚠
- p.Glu89Gly Single submitter ⚠
- p.Gly79Ala Single submitter ⚠
- p.His12Tyr Single submitter ⚠
- p.Ile104Thr Single submitter ⚠
- p.Ile142Asn Single submitter ⚠
- p.Ile214Thr Single submitter ⚠
- p.Ile224Thr Single submitter ⚠
- p.Ile241Val Single submitter ⚠
- p.Ile258Thr Single submitter ⚠
- p.Ile303Val Single submitter ⚠
- p.Ile69Ser Single submitter ⚠
- p.Ile73Thr Single submitter ⚠
- p.Leu113Val Single submitter ⚠
- p.Leu83Phe Single submitter ⚠
- p.Pro192Leu Single submitter ⚠
- p.Pro49Leu Single submitter ⚠
- p.Ser110Thr Single submitter ⚠
- p.Ser112Asn Single submitter ⚠
- p.Ser112Ile Single submitter ⚠
- p.Ser213Gly Single submitter ⚠
- p.Ser32Asn Single submitter ⚠
- p.Ser337Leu Single submitter ⚠
- p.Thr197Ile Single submitter ⚠
- p.Thr333Ile Single submitter ⚠
- p.Tyr130Cys Single submitter ⚠
- p.Tyr275Phe Single submitter ⚠
- p.Val161Leu Single submitter ⚠
- p.Val234Met Single submitter ⚠
- p.Val338Phe Single submitter ⚠