Sugi Variant

Sugi Variant/HSPG2

HSPG2 — 3436 ClinVar variants

All ClinVar germline HSPG2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 988 flagged for review →

59 Pathogenic · 11 Pathogenic/Likely pathogenic · 52 Likely pathogenic · 235 Conflicting · 191 Benign · 133 Benign/Likely benign · 1091 Likely benign · 1664 Uncertain significance

Full HSPG2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 988

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 68

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

Predictors lean, ClinVar uncertain 855

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 855

Predictors split 62

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

All HSPG2 variants

Pathogenic 59

Pathogenic/Likely pathogenic 11

Likely pathogenic 52

Conflicting classifications of pathogenicity 235

Benign 191

Benign/Likely benign 133

Likely benign 1091

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

Uncertain significance 1664

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