Sugi Variant

Sugi Variant/HPD

HPD — 411 ClinVar variants

All ClinVar germline HPD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 102 flagged for review →

18 Pathogenic · 4 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 11 Conflicting · 25 Benign · 6 Benign/Likely benign · 221 Likely benign · 112 Uncertain significance

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

⚑ Evidence disagreements 102

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 2

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

Predictors lean, ClinVar uncertain 57

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

Predictors split 43

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

All HPD variants

Pathogenic 18

Pathogenic/Likely pathogenic 4

Likely pathogenic 14

Conflicting classifications of pathogenicity 11

Benign 25

Benign/Likely benign 6

Likely benign 221

Uncertain significance 112