Sugi Variant

Sugi Variant/VPS35

VPS35 — 265 ClinVar variants

All ClinVar germline VPS35 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 113 flagged for review →

1 Pathogenic · 2 Likely pathogenic · 11 Conflicting · 24 Benign · 8 Benign/Likely benign · 89 Likely benign · 130 Uncertain significance

Full VPS35 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 113

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 5

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

Predictors lean, ClinVar uncertain 78

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

Predictors split 30

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

All VPS35 variants

Pathogenic 1

Likely pathogenic 2

Conflicting classifications of pathogenicity 11

Benign 24

Benign/Likely benign 8

  • c.915-16dup Multiple submitters
  • c.915-16T>G Multiple submitters Parkinson disease 17
  • c.-34G>A Multiple submitters Parkinson disease 17
  • p.Asn708His Multiple submitters Parkinson disease 17
  • p.Ile747= Multiple submitters Parkinson disease 17
  • p.Leu715= Multiple submitters Parkinson disease 17
  • p.Thr278= Multiple submitters Parkinson disease 17
  • p.Thr466= Multiple submitters Parkinson disease 17

Likely benign 89

Uncertain significance 130