RAB5B — 21 ClinVar variants
All ClinVar germline RAB5B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 18 flagged for review →
1 Likely benign · 20 Uncertain significance
Full RAB5B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 18
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RAB5B p.Ala109Val Uncertain significance Single submitter
- RAB5B p.Ala148Val Uncertain significance Single submitter
- RAB5B p.Ala95Thr Uncertain significance Single submitter
- RAB5B p.Arg141His Uncertain significance Single submitter
- RAB5B p.Asn10Ser Uncertain significance Single submitter
- RAB5B p.Asn188Asp Uncertain significance Single submitter
- RAB5B p.Asn188Ser Uncertain significance Single submitter
-
RAB5B p.Asp136His
Uncertain significance
Single submitter
RAB5B-associated surfactant dysfunction disorder
- RAB5B p.Ile53Thr Uncertain significance Single submitter
- RAB5B p.Met88Ile Uncertain significance Single submitter
- RAB5B p.Ser125Gly Uncertain significance Single submitter
- RAB5B p.Ser16Asn Uncertain significance Single submitter
- RAB5B p.Ser16Gly Uncertain significance Single submitter
- RAB5B p.Val127Ile Uncertain significance Single submitter
- RAB5B p.Val98Met Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All RAB5B variants
Likely benign 1
- p.His202= Single submitter
Uncertain significance 20
- p.Ala109Val Single submitter ⚠
- p.Ala148Val Single submitter ⚠
- p.Ala150Pro Single submitter ⚠
- p.Ala95Thr Single submitter ⚠
- p.Arg141His Single submitter ⚠
- p.Arg8Ser Single submitter ⚠
- p.Asn10Ser Single submitter ⚠
- p.Asn188Asp Single submitter ⚠
- p.Asn188Ser Single submitter ⚠
- p.Asp136His Single submitter RAB5B-associated surfactant dysfunction disorder ⚠
- p.Ile53Thr Single submitter ⚠
- p.Lys179Glu Single submitter
- p.Met88Ile Single submitter ⚠
- p.Pro186Leu Single submitter ⚠
- p.Ser125Gly Single submitter ⚠
- p.Ser16Asn Single submitter ⚠
- p.Ser16Gly Single submitter ⚠
- p.Thr103Ser Single submitter
- p.Val127Ile Single submitter ⚠
- p.Val98Met Single submitter ⚠