Sugi Variant

Sugi Variant/RAB11B

RAB11B — 258 ClinVar variants

All ClinVar germline RAB11B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →

1 Pathogenic · 2 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 7 Conflicting · 27 Benign · 11 Benign/Likely benign · 128 Likely benign · 78 Uncertain significance

Full RAB11B 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 6

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

Predictors lean, ClinVar uncertain 49

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

Predictors split 9

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

All RAB11B variants

Pathogenic 1

  • p.Val22Leu Single submitter neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter

Pathogenic/Likely pathogenic 2

  • p.Ala68Thr Multiple submitters neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
  • p.Val22Met Multiple submitters neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter

Likely pathogenic 4

  • p.Arg74Gly Single submitter
  • p.Asp127His Single submitter RAB11B-related disorder
  • p.Asp66Tyr Single submitter Neurodevelopmental abnormality
  • p.Ser29Pro Single submitter neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter

Conflicting classifications of pathogenicity 7

  • c.511+5_511+10del Single submitter neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
  • p.Ala164Gly Single submitter neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter ⚠
  • p.Arg174His Single submitter Inborn genetic diseases ⚠
  • p.Arg184Cys Single submitter Inborn genetic diseases ⚠
  • p.Leu148Ser Single submitter Inborn genetic diseases ⚠
  • p.Leu212Met Single submitter Inborn genetic diseases ⚠
  • p.Val118Ile Single submitter Inborn genetic diseases ⚠

Benign 27

Benign/Likely benign 11

Likely benign 128

Uncertain significance 78