RBM17 — 25 ClinVar variants
All ClinVar germline RBM17 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
1 Benign · 24 Uncertain significance
Full RBM17 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RBM17 p.Arg190Gln Uncertain significance Single submitter
- RBM17 p.Asp107Glu Uncertain significance Single submitter
- RBM17 p.Asp197Tyr Uncertain significance Single submitter
- RBM17 p.Asp70Glu Uncertain significance Single submitter
- RBM17 p.Glu132Gln Uncertain significance Single submitter
- RBM17 p.Leu26Pro Uncertain significance Single submitter
- RBM17 p.Leu79Arg Uncertain significance Single submitter
- RBM17 p.Lys186Arg Uncertain significance Single submitter
- RBM17 p.Lys206Arg Uncertain significance Single submitter
- RBM17 p.Lys335Arg Uncertain significance Single submitter
- RBM17 p.Met103Val Uncertain significance Single submitter
- RBM17 p.Met170Val Uncertain significance Single submitter
- RBM17 p.Pro153Ala Uncertain significance Single submitter
- RBM17 p.Pro95Ser Uncertain significance Single submitter
- RBM17 p.Ser63Leu Uncertain significance Single submitter
- RBM17 p.Ser85Gly Uncertain significance Single submitter
- RBM17 p.Thr283Ala Uncertain significance Single submitter
- RBM17 p.Thr45Met Uncertain significance Single submitter
- RBM17 p.Val279Met Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All RBM17 variants
Benign 1
- p.Gly280= Multiple submitters
Uncertain significance 24
- p.Arg121Gly Single submitter ⚠
- p.Arg138Leu Single submitter ⚠
- p.Arg190Gln Single submitter ⚠
- p.Asp107Glu Single submitter ⚠
- p.Asp197Tyr Single submitter ⚠
- p.Asp70Glu Single submitter ⚠
- p.Glu109Lys Single submitter ⚠
- p.Glu132Gln Single submitter ⚠
- p.Glu325Ter Single submitter
- p.Gly18Ala Single submitter ⚠
- p.Leu26Pro Single submitter ⚠
- p.Leu79Arg Single submitter ⚠
- p.Lys186Arg Single submitter ⚠
- p.Lys206Arg Single submitter ⚠
- p.Lys335Arg Single submitter ⚠
- p.Met103Val Single submitter ⚠
- p.Met170Val Single submitter ⚠
- p.Pro153Ala Single submitter ⚠
- p.Pro95Ser Single submitter ⚠
- p.Ser63Leu Single submitter ⚠
- p.Ser85Gly Single submitter ⚠
- p.Thr283Ala Single submitter ⚠
- p.Thr45Met Single submitter ⚠
- p.Val279Met Single submitter ⚠