HIF1AN — 26 ClinVar variants
All ClinVar germline HIF1AN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
2 Benign · 24 Uncertain significance
Full HIF1AN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HIF1AN p.Ala26Pro Uncertain significance Single submitter
- HIF1AN p.Arg138Gln Uncertain significance Single submitter
- HIF1AN p.Arg215Gln Uncertain significance Single submitter
- HIF1AN p.Arg51Gln Uncertain significance Single submitter
- HIF1AN p.Asn205Ser Uncertain significance Single submitter
- HIF1AN p.Asp134Tyr Uncertain significance Single submitter
- HIF1AN p.Glu83Lys Uncertain significance Single submitter
- HIF1AN p.Gly24Ser Uncertain significance Single submitter
- HIF1AN p.His313Tyr Uncertain significance Single submitter
- HIF1AN p.Ile306Val Uncertain significance Single submitter
- HIF1AN p.Lys176Arg Uncertain significance Single submitter
- HIF1AN p.Pro247Ser Uncertain significance Single submitter
- HIF1AN p.Pro25Ala Uncertain significance Single submitter
- HIF1AN p.Ser94Asn Uncertain significance Single submitter
- HIF1AN p.Thr342Ile Uncertain significance Single submitter
- HIF1AN p.Tyr93Cys Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- HIF1AN p.Gln31Leu Uncertain significance Single submitter
- HIF1AN p.Ile170Thr Uncertain significance Single submitter
- HIF1AN p.Leu150Phe Uncertain significance Single submitter
- HIF1AN p.Lys131Gln Uncertain significance Single submitter
- HIF1AN p.Lys172Asn Uncertain significance Single submitter
- HIF1AN p.Pro229Ala Uncertain significance Single submitter
All HIF1AN variants
Benign 2
- p.Asp66= Single submitter
- p.Pro41Ala Single submitter
Uncertain significance 24
- p.Ala26Pro Single submitter ⚠
- p.Arg138Gln Single submitter ⚠
- p.Arg215Gln Single submitter ⚠
- p.Arg51Gln Single submitter ⚠
- p.Asn205Ser Single submitter ⚠
- p.Asp134Tyr Single submitter ⚠
- p.Gln31Leu Single submitter ⚠
- p.Glu83Lys Single submitter ⚠
- p.Gly24Ser Single submitter ⚠
- p.His313Tyr Single submitter ⚠
- p.Ile170Thr Single submitter ⚠
- p.Ile306Val Single submitter ⚠
- p.Leu150Phe Single submitter ⚠
- p.Lys131Gln Single submitter ⚠
- p.Lys172Asn Single submitter ⚠
- p.Lys176Arg Single submitter ⚠
- p.Met191Val Single submitter
- p.Met275Val Single submitter
- p.Pro229Ala Single submitter ⚠
- p.Pro247Ser Single submitter ⚠
- p.Pro25Ala Single submitter ⚠
- p.Ser94Asn Single submitter ⚠
- p.Thr342Ile Single submitter ⚠
- p.Tyr93Cys Single submitter ⚠