RAB2A — 7 ClinVar variants
All ClinVar germline RAB2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 4 flagged for review →
2 Likely benign · 5 Uncertain significance
Full RAB2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 4
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 lean, ClinVar uncertain 4
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
All RAB2A variants
Likely benign 2
- c.119-5_119-2del Single submitter
- p.Phe43= Single submitter
Uncertain significance 5
- p.Ala199Gly Single submitter ⚠
- p.Asn162Ser Single submitter ⚠
- p.His107Tyr Single submitter
- p.His191Arg Single submitter ⚠
- p.Ile144Val Single submitter ⚠