Sugi Variant

Sugi Variant/RAB3GAP2

RAB3GAP2 — 839 ClinVar variants

All ClinVar germline RAB3GAP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 337 flagged for review →

21 Pathogenic · 1 Pathogenic/Likely pathogenic · 28 Likely pathogenic · 36 Conflicting · 67 Benign · 14 Benign/Likely benign · 282 Likely benign · 390 Uncertain significance

Full RAB3GAP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 337

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 15

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

Predictors lean, ClinVar uncertain 252

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 252

Predictors split 69

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

All RAB3GAP2 variants

Pathogenic 21

Pathogenic/Likely pathogenic 1

Likely pathogenic 28

Conflicting classifications of pathogenicity 36

Benign 67

Benign/Likely benign 14

  • c.1779+7G>A Multiple submitters Martsolf syndrome
  • c.2807-15G>A Multiple submitters Warburg micro syndrome 2
  • c.304+12A>G Multiple submitters Warburg micro syndrome 2
  • c.613-24dup Multiple submitters Warburg micro syndrome 2
  • c.812-6dup Multiple submitters Martsolf syndrome
  • c.812-7_812-6del Multiple submitters Martsolf syndrome
  • c.961-14G>T Multiple submitters Warburg micro syndrome 2
  • p.Asp13= Multiple submitters Warburg micro syndrome 2
  • p.Leu1331Ile Multiple submitters Martsolf syndrome
  • p.Leu768= Multiple submitters Warburg micro syndrome 2
  • p.Lys1322= Multiple submitters Warburg micro syndrome 2
  • p.Phe405= Multiple submitters Warburg micro syndrome 2
  • p.Pro1333= Multiple submitters Martsolf syndrome
  • p.Thr1308= Multiple submitters Warburg micro syndrome 2

Likely benign 282

Uncertain significance 390

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