RBM39 — 28 ClinVar variants
All ClinVar germline RBM39 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 24 flagged for review →
1 Likely benign · 27 Uncertain significance
Full RBM39 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 24
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RBM39 p.Arg123Gly Uncertain significance Single submitter
- RBM39 p.Arg124His Uncertain significance Single submitter
- RBM39 p.Arg75Lys Uncertain significance Single submitter
- RBM39 p.Arg94His Uncertain significance Single submitter
- RBM39 p.Asn189Ser Uncertain significance Single submitter
- RBM39 p.Asp134Gly Uncertain significance Single submitter
- RBM39 p.Asp18Gly Uncertain significance Single submitter
- RBM39 p.Glu439Val Uncertain significance Single submitter
- RBM39 p.His45Arg Uncertain significance Single submitter
- RBM39 p.Ile118Val Uncertain significance Single submitter
- RBM39 p.Leu114Val Uncertain significance Single submitter
- RBM39 p.Lys16Arg Uncertain significance Single submitter
- RBM39 p.Met519Ile Uncertain significance Single submitter
- RBM39 p.Met519Val Uncertain significance Single submitter
- RBM39 p.Thr502Ala Uncertain significance Single submitter
- RBM39 p.Thr510Ala Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- RBM39 p.Ala484Ser Uncertain significance Single submitter
- RBM39 p.Arg69His Uncertain significance Single submitter
- RBM39 p.Arg73Gln Uncertain significance Single submitter
- RBM39 p.Arg87Gln Uncertain significance Single submitter
- RBM39 p.Asn489Ile Uncertain significance Single submitter
- RBM39 p.Gly101Arg Uncertain significance Single submitter
- RBM39 p.Lys244Glu Uncertain significance Single submitter
- RBM39 p.Ser50Gly Uncertain significance Single submitter
All RBM39 variants
Likely benign 1
- p.Asn26= Single submitter
Uncertain significance 27
- p.Ala484Ser Single submitter ⚠
- p.Arg123Gly Single submitter ⚠
- p.Arg124His Single submitter ⚠
- p.Arg69Cys Single submitter
- p.Arg69His Single submitter ⚠
- p.Arg73Gln Single submitter ⚠
- p.Arg75Lys Single submitter ⚠
- p.Arg83Cys Single submitter
- p.Arg87Gln Single submitter ⚠
- p.Arg94His Single submitter ⚠
- p.Asn189Ser Single submitter ⚠
- p.Asn489Ile Single submitter ⚠
- p.Asp134Gly Single submitter ⚠
- p.Asp18Gly Single submitter ⚠
- p.Glu439Val Single submitter ⚠
- p.Gly101Arg Single submitter ⚠
- p.His45Arg Single submitter ⚠
- p.Ile118Val Single submitter ⚠
- p.Ile276Val Single submitter
- p.Leu114Val Single submitter ⚠
- p.Lys16Arg Single submitter ⚠
- p.Lys244Glu Single submitter ⚠
- p.Met519Ile Single submitter ⚠
- p.Met519Val Single submitter ⚠
- p.Ser50Gly Single submitter ⚠
- p.Thr502Ala Single submitter ⚠
- p.Thr510Ala Single submitter ⚠