Sugi Variant

Sugi Variant/AHR

AHR — 498 ClinVar variants

All ClinVar germline AHR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 285 flagged for review →

6 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 1 Conflicting · 11 Benign · 1 Benign/Likely benign · 182 Likely benign · 294 Uncertain significance

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

⚑ Evidence disagreements 285

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 agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 214

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 214

Predictors split 70

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

All AHR variants

Pathogenic 6

Pathogenic/Likely pathogenic 1

  • p.Gln621Ter No assertion criteria foveal hypoplasia 3

Likely pathogenic 2

Conflicting classifications of pathogenicity 1

Benign 11

Benign/Likely benign 1

Likely benign 182

Uncertain significance 294