Sugi Variant

Sugi Variant/RAB18

RAB18 — 187 ClinVar variants

All ClinVar germline RAB18 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →

5 Pathogenic · 4 Likely pathogenic · 3 Conflicting · 36 Benign · 4 Benign/Likely benign · 34 Likely benign · 101 Uncertain significance

Full RAB18 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 29

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 2

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

Predictors lean, ClinVar uncertain 24

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

Predictors split 3

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

All RAB18 variants

Pathogenic 5

  • p.Asp94fs Single submitter
  • p.Ter207Gln Single submitter Warburg micro syndrome 3
  • p.Arg93del No assertion criteria Warburg micro syndrome 3
  • p.Leu24Gln No assertion criteria Warburg micro syndrome 3
  • p.Thr95Arg No assertion criteria Warburg micro syndrome 3

Likely pathogenic 4

Conflicting classifications of pathogenicity 3

Benign 36

Benign/Likely benign 4

  • c.-20C>T Multiple submitters Warburg micro syndrome 3
  • c.-83C>A Multiple submitters Warburg micro syndrome 3
  • c.*278A>T Multiple submitters Warburg micro syndrome 3
  • p.Tyr88= Multiple submitters

Likely benign 34

Uncertain significance 101