Sugi Variant

Sugi Variant/RAB33B

RAB33B — 126 ClinVar variants

All ClinVar germline RAB33B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →

7 Pathogenic · 2 Likely pathogenic · 8 Conflicting · 5 Benign · 1 Benign/Likely benign · 30 Likely benign · 73 Uncertain significance

Full RAB33B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 34

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 8

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

All RAB33B variants

Pathogenic 7

  • p.Gln134Ter Multiple submitters Smith-McCort dysplasia 2
  • p.Glu6Ter Single submitter
  • p.Asn148Lys No assertion criteria Smith-McCort dysplasia 2
  • p.Cys48Ter No assertion criteria Smith-McCort dysplasia 2
  • p.Gln164Ter No assertion criteria Smith-McCort dysplasia 2
  • p.Gln85Ter No assertion criteria Smith-McCort dysplasia 2
  • p.Gly17fs No assertion criteria Smith-McCort dysplasia 2

Likely pathogenic 2

Conflicting classifications of pathogenicity 8

Benign 5

  • c.*1303C>T Multiple submitters Smith-McCort dysplasia 2
  • c.*2651C>A Multiple submitters Smith-McCort dysplasia 2
  • c.-36C>T Single submitter Smith-McCort dysplasia 2
  • c.*1077G>A Single submitter Smith-McCort dysplasia 2
  • p.Thr177= Single submitter

Benign/Likely benign 1

  • c.*254A>G Multiple submitters Smith-McCort dysplasia 2

Likely benign 30

Uncertain significance 73