RABL3 — 29 ClinVar variants
All ClinVar germline RABL3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →
2 Benign · 9 Likely benign · 18 Uncertain significance
Full RABL3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 16
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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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RABL3 p.Asn127Tyr
Uncertain significance
Single submitter
RABL3-related disorder
- RABL3 p.Asn172Ser Uncertain significance Single submitter
- RABL3 p.Asn192Lys Uncertain significance Single submitter
- RABL3 p.Cys27Phe Uncertain significance Single submitter
-
RABL3 p.Gly128Glu
Uncertain significance
Single submitter
familial adenomatous polyposis 2
-
RABL3 p.His153Asp
Uncertain significance
Single submitter
RABL3-related disorder
- RABL3 p.Ile152Ser Uncertain significance Single submitter
- RABL3 p.Lys51Arg Uncertain significance Single submitter
- RABL3 p.Phe200Ser Uncertain significance Single submitter
- RABL3 p.Phe84Ser Uncertain significance Single submitter
-
RABL3 p.Thr98Ile
Uncertain significance
Single submitter
RABL3-related disorder
-
RABL3 p.Val119Met
Uncertain significance
Single submitter
RABL3-related disorder
- RABL3 p.Val123Gly Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All RABL3 variants
Benign 2
- c.268+6A>G No assertion criteria RABL3-related disorder
- c.646-8G>C No assertion criteria RABL3-related disorder
Likely benign 9
- p.His95= Multiple submitters
- p.His158= Single submitter
- p.Ser87= Single submitter
- c.384-3C>T No assertion criteria RABL3-related disorder
- p.Arg184Gln No assertion criteria RABL3-related disorder
- p.Asp170Val No assertion criteria RABL3-related disorder ⚠
- p.Leu32= No assertion criteria RABL3-related disorder
- p.Leu64= No assertion criteria RABL3-related disorder
- p.Phe93= No assertion criteria RABL3-related disorder
Uncertain significance 18
- p.Arg222Gly Single submitter
- p.Asn127Tyr Single submitter RABL3-related disorder ⚠
- p.Asn172Ser Single submitter ⚠
- p.Asn192Lys Single submitter ⚠
- p.Cys180Gly Single submitter ⚠
- p.Cys27Phe Single submitter ⚠
- p.Gly128Glu Single submitter familial adenomatous polyposis 2 ⚠
- p.His153Asp Single submitter RABL3-related disorder ⚠
- p.Ile152Ser Single submitter ⚠
- p.Leu25Phe Single submitter ⚠
- p.Lys51Arg Single submitter ⚠
- p.Phe200Ser Single submitter ⚠
- p.Phe84Ser Single submitter ⚠
- p.Thr181Ile Single submitter
- p.Thr98Ile Single submitter RABL3-related disorder ⚠
- p.Val119Met Single submitter RABL3-related disorder ⚠
- p.Val123Gly Single submitter ⚠
- c.138+1G>A No assertion criteria RABL3-related disorder