Sugi Variant

Sugi Variant/HGD

HGD — 606 ClinVar variants

All ClinVar germline HGD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 133 flagged for review →

165 Pathogenic · 26 Pathogenic/Likely pathogenic · 67 Likely pathogenic · 25 Conflicting · 9 Benign · 11 Benign/Likely benign · 170 Likely benign · 133 Uncertain significance

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

⚑ Evidence disagreements 133

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 7

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

Predictors agree, ClinVar conflicts 11

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

Predictors lean, ClinVar uncertain 76

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

Predictors split 39

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

All HGD variants

Pathogenic 165

Pathogenic/Likely pathogenic 26

Likely pathogenic 67

Conflicting classifications of pathogenicity 25

Benign 9

Benign/Likely benign 11

Likely benign 170

Uncertain significance 133