Sugi Variant

Sugi Variant/VPS11

VPS11 — 530 ClinVar variants

All ClinVar germline VPS11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 97 flagged for review →

3 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Conflicting · 31 Benign · 5 Benign/Likely benign · 364 Likely benign · 122 Uncertain significance

Full VPS11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 97

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 1

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 19

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

All VPS11 variants

Pathogenic 3

Pathogenic/Likely pathogenic 1

  • p.Cys846Gly Multiple submitters leukodystrophy, hypomyelinating, 12

Conflicting classifications of pathogenicity 4

Benign 31

Benign/Likely benign 5

Likely benign 364

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

Uncertain significance 122