RAB34 — 43 ClinVar variants
All ClinVar germline RAB34 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
2 Pathogenic · 2 Likely pathogenic · 5 Likely benign · 34 Uncertain significance
Full RAB34 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RAB34 p.Arg123Lys Uncertain significance Single submitter
- RAB34 p.Arg211Cys Uncertain significance Single submitter
- RAB34 p.Arg232Cys Uncertain significance Single submitter
- RAB34 p.Arg35Cys Uncertain significance Single submitter
- RAB34 p.Arg93Gly Uncertain significance Single submitter
- RAB34 p.Asp182Glu Uncertain significance Single submitter
- RAB34 p.Gln18Pro Uncertain significance Single submitter
- RAB34 p.Glu180Lys Uncertain significance Single submitter
-
RAB34 p.Gly202Val
Uncertain significance
Single submitter
orofaciodigital syndrome 20
- RAB34 p.His27Pro Uncertain significance Single submitter
- RAB34 p.His29Tyr Uncertain significance Single submitter
- RAB34 p.Ile233Val Uncertain significance Single submitter
- RAB34 p.Ile3Val Uncertain significance Single submitter
- RAB34 p.Lys181Asn Uncertain significance Single submitter
- RAB34 p.Lys227Gln Uncertain significance Single submitter
- RAB34 p.Lys253Arg Uncertain significance Single submitter
- RAB34 p.Lys254Gln Uncertain significance Single submitter
- RAB34 p.Phe114Leu Uncertain significance Single submitter
- RAB34 p.Trp195Arg Uncertain significance Single submitter
- RAB34 p.Tyr81His Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- RAB34 p.Ala213Gly Uncertain significance Single submitter
- RAB34 p.Ala213Ser Uncertain significance Single submitter
- RAB34 p.Arg93Gln Uncertain significance Single submitter
- RAB34 p.Cys40Gly Uncertain significance Single submitter
- RAB34 p.Phe208Val Uncertain significance Single submitter
- RAB34 p.Thr172Ile Uncertain significance Single submitter
- RAB34 p.Val237Ala Uncertain significance Single submitter
- RAB34 p.Val7Met Uncertain significance Single submitter
All RAB34 variants
Pathogenic 2
- p.Arg211His No assertion criteria orofaciodigital syndrome 20
- p.Glu218Lys No assertion criteria orofaciodigital syndrome 20
Likely pathogenic 2
- p.Arg231Ter Single submitter Jeune syndrome
- p.Ile85Thr Single submitter Jeune syndrome
Likely benign 5
Uncertain significance 34
- p.Ala213Gly Single submitter ⚠
- p.Ala213Ser Single submitter ⚠
- p.Arg123Lys Single submitter ⚠
- p.Arg211Cys Single submitter ⚠
- p.Arg232Cys Single submitter ⚠
- p.Arg33Gly Single submitter
- p.Arg35Cys Single submitter ⚠
- p.Arg93Gln Single submitter ⚠
- p.Arg93Gly Single submitter ⚠
- p.Asp182Glu Single submitter ⚠
- p.Cys40Gly Single submitter ⚠
- p.Gln18Pro Single submitter ⚠
- p.Glu153del Single submitter orofaciodigital syndrome 20
- p.Glu180Lys Single submitter ⚠
- p.Gly202Val Single submitter orofaciodigital syndrome 20 ⚠
- p.His27Pro Single submitter ⚠
- p.His29Tyr Single submitter ⚠
- p.Ile233Val Single submitter ⚠
- p.Ile3Val Single submitter ⚠
- p.Ile44Asn Single submitter
- p.Leu4Pro Single submitter
- p.Lys181Asn Single submitter ⚠
- p.Lys227Gln Single submitter ⚠
- p.Lys253Arg Single submitter ⚠
- p.Lys254Gln Single submitter ⚠
- p.Phe114Leu Single submitter ⚠
- p.Phe208Val Single submitter ⚠
- p.Pro5Ser Single submitter
- p.Thr172Ile Single submitter ⚠
- p.Trp195Arg Single submitter ⚠
- p.Trp31Cys Single submitter
- p.Tyr81His Single submitter ⚠
- p.Val237Ala Single submitter ⚠
- p.Val7Met Single submitter ⚠