Sugi Variant

Sugi Variant/AHI1

AHI1 — 1737 ClinVar variants

All ClinVar germline AHI1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 593 flagged for review →

127 Pathogenic · 54 Pathogenic/Likely pathogenic · 81 Likely pathogenic · 105 Conflicting · 55 Benign · 36 Benign/Likely benign · 637 Likely benign · 642 Uncertain significance

Full AHI1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 593

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 3

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

Predictors agree, ClinVar conflicts 58

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

Predictors lean, ClinVar uncertain 486

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 486

Predictors split 46

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

All AHI1 variants

Pathogenic 127

Pathogenic/Likely pathogenic 54

Likely pathogenic 81

Conflicting classifications of pathogenicity 105

Benign 55

Benign/Likely benign 36

Likely benign 637

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 642

Showing the top 300 by review status; the full set is in the sitemap.