HAO1 — 61 ClinVar variants
All ClinVar germline HAO1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →
2 Pathogenic · 1 Likely benign · 58 Uncertain significance
Full HAO1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 55
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 45
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HAO1 p.Ala210Ser Uncertain significance Single submitter
- HAO1 p.Ala345Val Uncertain significance Single submitter
- HAO1 p.Ala366Pro Uncertain significance Single submitter
- HAO1 p.Ala81Thr Uncertain significance Single submitter
- HAO1 p.Arg167Cys Uncertain significance Single submitter
- HAO1 p.Arg167His Uncertain significance Single submitter
- HAO1 p.Arg167Leu Uncertain significance Single submitter
- HAO1 p.Arg263Gln Uncertain significance Single submitter
- HAO1 p.Arg295Trp Uncertain significance Single submitter
- HAO1 p.Arg341Leu Uncertain significance Single submitter
- HAO1 p.Arg52Gly Uncertain significance Single submitter
- HAO1 p.Arg52Met Uncertain significance Single submitter
- HAO1 p.Asn185Tyr Uncertain significance Single submitter
- HAO1 p.Asp160His Uncertain significance Single submitter
- HAO1 p.Asp266Asn Uncertain significance Single submitter
- HAO1 p.Asp299Val Uncertain significance Single submitter
- HAO1 p.Asp33Asn Uncertain significance Single submitter
- HAO1 p.Asp89Glu Uncertain significance Single submitter
- HAO1 p.Gln13Lys Uncertain significance Single submitter
- HAO1 p.Gln99Glu Uncertain significance Single submitter
- HAO1 p.Glu197Gln Uncertain significance Single submitter
- HAO1 p.Glu246Asp Uncertain significance Single submitter
- HAO1 p.Gly292Arg Uncertain significance Single submitter
- HAO1 p.Gly90Ser Uncertain significance Single submitter
- HAO1 p.Ile155Val Uncertain significance Single submitter
- HAO1 p.Ile217Met Uncertain significance Single submitter
- HAO1 p.Ile233Val Uncertain significance Single submitter
- HAO1 p.Ile272Thr Uncertain significance Single submitter
- HAO1 p.Ile8Val Uncertain significance Single submitter
- HAO1 p.Leu131Pro Uncertain significance Single submitter
- HAO1 p.Leu252Phe Uncertain significance Single submitter
- HAO1 p.Lys211Glu Uncertain significance Single submitter
- HAO1 p.Met106Leu Uncertain significance Single submitter
- HAO1 p.Met53Leu Uncertain significance Single submitter
- HAO1 p.Pro215Ser Uncertain significance Single submitter
- HAO1 p.Pro276Ser Uncertain significance Single submitter
- HAO1 p.Ser189Ile Uncertain significance Single submitter
- HAO1 p.Ser192Pro Uncertain significance Single submitter
- HAO1 p.Ser203Gly Uncertain significance Single submitter
- HAO1 p.Ser258Leu Uncertain significance Single submitter
- HAO1 p.Thr103Met Uncertain significance Single submitter
- HAO1 p.Thr36Ile Uncertain significance Single submitter
- HAO1 p.Tyr132Cys Uncertain significance Single submitter
- HAO1 p.Tyr132His Uncertain significance Single submitter
- HAO1 p.Val367Ile Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- HAO1 p.Arg127Cys Uncertain significance Single submitter
- HAO1 p.Arg137Gln Uncertain significance Single submitter
- HAO1 p.Arg172His Uncertain significance Single submitter
- HAO1 p.Arg226Ser Uncertain significance Single submitter
- HAO1 p.Arg84His Uncertain significance Single submitter
- HAO1 p.Asn185Lys Uncertain significance Single submitter
- HAO1 p.Asp61Tyr Uncertain significance Single submitter
- HAO1 p.Gly104Asp Uncertain significance Single submitter
- HAO1 p.Ser100Phe Uncertain significance Single submitter
- HAO1 p.Ser63Leu Uncertain significance Single submitter
All HAO1 variants
Pathogenic 2
- p.Gly165Cys Single submitter glycolate oxidase deficiency
- c.814-1G>C No assertion criteria GLYCOLIC ACIDURIA, ISOLATED
Likely benign 1
- p.Val318Ile Single submitter
Uncertain significance 58
- p.Ala210Ser Single submitter ⚠
- p.Ala244Thr Single submitter
- p.Ala345Val Single submitter ⚠
- p.Ala366Pro Single submitter ⚠
- p.Ala81Thr Single submitter ⚠
- p.Arg127Cys Single submitter ⚠
- p.Arg137Gln Single submitter ⚠
- p.Arg167Cys Single submitter ⚠
- p.Arg167His Single submitter ⚠
- p.Arg167Leu Single submitter ⚠
- p.Arg172His Single submitter ⚠
- p.Arg226Ser Single submitter ⚠
- p.Arg263Gln Single submitter ⚠
- p.Arg295Trp Single submitter ⚠
- p.Arg341Leu Single submitter ⚠
- p.Arg52Gly Single submitter ⚠
- p.Arg52Met Single submitter ⚠
- p.Arg84His Single submitter ⚠
- p.Asn185Lys Single submitter ⚠
- p.Asn185Tyr Single submitter ⚠
- p.Asp160His Single submitter ⚠
- p.Asp266Asn Single submitter ⚠
- p.Asp273Asn Single submitter
- p.Asp299Val Single submitter ⚠
- p.Asp33Asn Single submitter ⚠
- p.Asp61Tyr Single submitter ⚠
- p.Asp89Glu Single submitter ⚠
- p.Gln13Lys Single submitter ⚠
- p.Gln99Glu Single submitter ⚠
- p.Glu197Gln Single submitter ⚠
- p.Glu246Asp Single submitter ⚠
- p.Gly104Asp Single submitter ⚠
- p.Gly292Arg Single submitter ⚠
- p.Gly90Ser Single submitter ⚠
- p.Ile155Val Single submitter ⚠
- p.Ile217Met Single submitter ⚠
- p.Ile233Val Single submitter ⚠
- p.Ile272Thr Single submitter ⚠
- p.Ile8Val Single submitter ⚠
- p.Leu131Pro Single submitter ⚠
- p.Leu252Phe Single submitter ⚠
- p.Lys211Glu Single submitter ⚠
- p.Met106Leu Single submitter ⚠
- p.Met53Leu Single submitter ⚠
- p.Pro178Leu Single submitter
- p.Pro215Ser Single submitter ⚠
- p.Pro276Ser Single submitter ⚠
- p.Ser100Phe Single submitter ⚠
- p.Ser189Ile Single submitter ⚠
- p.Ser192Pro Single submitter ⚠
- p.Ser203Gly Single submitter ⚠
- p.Ser258Leu Single submitter ⚠
- p.Ser63Leu Single submitter ⚠
- p.Thr103Met Single submitter ⚠
- p.Thr36Ile Single submitter ⚠
- p.Tyr132Cys Single submitter ⚠
- p.Tyr132His Single submitter ⚠
- p.Val367Ile Single submitter ⚠