Sugi Variant

Sugi Variant/HPS3

HPS3 — 1350 ClinVar variants

All ClinVar germline HPS3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 342 flagged for review →

78 Pathogenic · 49 Pathogenic/Likely pathogenic · 124 Likely pathogenic · 26 Conflicting · 61 Benign · 27 Benign/Likely benign · 587 Likely benign · 398 Uncertain significance

Full HPS3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 342

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 1

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

Predictors agree, ClinVar conflicts 12

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

Predictors lean, ClinVar uncertain 258

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 258

Predictors split 71

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

All HPS3 variants

Pathogenic 78

Pathogenic/Likely pathogenic 49

Likely pathogenic 124

Conflicting classifications of pathogenicity 26

Benign 61

Benign/Likely benign 27

Likely benign 587

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

Uncertain significance 398

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