Sugi Variant

Sugi Variant/HIF1A

HIF1A — 119 ClinVar variants

All ClinVar germline HIF1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 90 flagged for review →

1 Pathogenic · 5 Likely pathogenic · 4 Conflicting · 8 Benign · 4 Benign/Likely benign · 12 Likely benign · 85 Uncertain significance

Full HIF1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 90

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 vs ClinVar 5

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 3

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 69

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 13

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

All HIF1A variants

Pathogenic 1

Likely pathogenic 5

Conflicting classifications of pathogenicity 4

Benign 8

Benign/Likely benign 4

Likely benign 12

Uncertain significance 85