Sugi Variant

Sugi Variant/VPS13B

VPS13B — 6376 ClinVar variants

All ClinVar germline VPS13B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1472 flagged for review →

440 Pathogenic · 139 Pathogenic/Likely pathogenic · 410 Likely pathogenic · 219 Conflicting · 119 Benign · 71 Benign/Likely benign · 2488 Likely benign · 2490 Uncertain significance

Full VPS13B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1472

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 2

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

Predictors agree, ClinVar conflicts 82

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

Predictors lean, ClinVar uncertain 1329

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 1329

Predictors split 59

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

All VPS13B variants

Pathogenic 440

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

Pathogenic/Likely pathogenic 139

Likely pathogenic 410

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

Conflicting classifications of pathogenicity 219

Benign 119

Benign/Likely benign 71

Likely benign 2488

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

Uncertain significance 2490

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