Sugi Variant

Sugi Variant/RAB23

RAB23 — 305 ClinVar variants

All ClinVar germline RAB23 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →

15 Pathogenic · 4 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 10 Conflicting · 13 Benign · 5 Benign/Likely benign · 136 Likely benign · 104 Uncertain significance

Full RAB23 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 64

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 50

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

Predictors split 12

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

All RAB23 variants

Pathogenic 15

  • p.Asn121fs Multiple submitters RAB23-related Carpenter syndrome
  • p.Glu137Ter Multiple submitters RAB23-related disorder
  • p.Leu145Ter Multiple submitters RAB23-related disorder
  • c.398+1G>A Single submitter RAB23-related Carpenter syndrome
  • p.Arg142fs Single submitter Carpenter syndrome
  • p.Arg28fs Single submitter Carpenter syndrome
  • p.Gln176Ter Single submitter Carpenter syndrome
  • p.Glu105fs Single submitter Carpenter syndrome
  • p.Glu48Ter Single submitter Carpenter syndrome
  • p.Glu70fs Single submitter RAB23-related Carpenter syndrome
  • p.Leu156fs Single submitter Carpenter syndrome
  • p.Lys141Ter Single submitter Carpenter syndrome
  • p.Lys144fs Single submitter Carpenter syndrome
  • p.Tyr29Ter No assertion criteria RAB23-related Carpenter syndrome
  • p.Val161Leu No assertion criteria Carpenter syndrome ⚠

Pathogenic/Likely pathogenic 4

  • p.Arg28Ter Multiple submitters RAB23-related Carpenter syndrome
  • p.Arg49Ter Multiple submitters RAB23-related Carpenter syndrome
  • p.Arg80Ter Multiple submitters RAB23-related Carpenter syndrome
  • p.Leu2fs Multiple submitters Carpenter syndrome

Likely pathogenic 18

Conflicting classifications of pathogenicity 10

  • c.156-9T>C Single submitter Carpenter syndrome
  • c.398+9G>A Single submitter Carpenter syndrome
  • p.Ala73Val Single submitter Carpenter syndrome ⚠
  • p.Glu179Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly18= Single submitter Carpenter syndrome
  • p.Lys31= Single submitter Carpenter syndrome
  • p.Ter238= Single submitter RAB23-related Carpenter syndrome
  • p.Ter238Glu Single submitter Carpenter syndrome
  • p.Thr41= Single submitter Carpenter syndrome
  • c.398+6del No assertion criteria RAB23-related Carpenter syndrome

Benign 13

Benign/Likely benign 5

  • c.242-31ATTG[6] Multiple submitters Carpenter syndrome
  • c.481+17G>A Multiple submitters Carpenter syndrome
  • c.-23C>T Multiple submitters RAB23-related Carpenter syndrome
  • p.Gly207Ser Multiple submitters RAB23-related Carpenter syndrome
  • p.Ser101Ala Multiple submitters RAB23-related Carpenter syndrome

Likely benign 136

Uncertain significance 104