RBBP9 — 30 ClinVar variants
All ClinVar germline RBBP9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →
1 Likely benign · 29 Uncertain significance
Full RBBP9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 25
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.
- RBBP9 p.Ala110Gly Uncertain significance Single submitter
- RBBP9 p.Ala2Gly Uncertain significance Single submitter
- RBBP9 p.Ala80Val Uncertain significance Single submitter
- RBBP9 p.Arg109His Uncertain significance Single submitter
- RBBP9 p.Arg109Leu Uncertain significance Single submitter
- RBBP9 p.Asp138Asn Uncertain significance Single submitter
- RBBP9 p.Gln147Glu Uncertain significance Single submitter
- RBBP9 p.Glu173Asp Uncertain significance Single submitter
- RBBP9 p.Glu52Gly Uncertain significance Single submitter
- RBBP9 p.Gly12Arg Uncertain significance Single submitter
- RBBP9 p.Gly16Arg Uncertain significance Single submitter
- RBBP9 p.His172Arg Uncertain significance Single submitter
- RBBP9 p.His64Arg Uncertain significance Single submitter
- RBBP9 p.Ile9Val Uncertain significance Single submitter
- RBBP9 p.Lys122Arg Uncertain significance Single submitter
- RBBP9 p.Lys156Arg Uncertain significance Single submitter
- RBBP9 p.Ser76Pro Uncertain significance Single submitter
- RBBP9 p.Thr161Ser Uncertain significance Single submitter
- RBBP9 p.Val131Ala Uncertain significance Single submitter
- RBBP9 p.Val178Ile Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All RBBP9 variants
Likely benign 1
- p.Ala150= Single submitter
Uncertain significance 29
- p.Ala110Gly Single submitter ⚠
- p.Ala2Gly Single submitter ⚠
- p.Ala50Gly Single submitter
- p.Ala80Thr Single submitter
- p.Ala80Val Single submitter ⚠
- p.Ala98Val Single submitter
- p.Arg109His Single submitter ⚠
- p.Arg109Leu Single submitter ⚠
- p.Arg109Pro Single submitter ⚠
- p.Asp138Asn Single submitter ⚠
- p.Asp17Tyr Single submitter ⚠
- p.Gln147Glu Single submitter ⚠
- p.Glu173Asp Single submitter ⚠
- p.Glu52Gly Single submitter ⚠
- p.Gly12Arg Single submitter ⚠
- p.Gly16Arg Single submitter ⚠
- p.His172Arg Single submitter ⚠
- p.His64Arg Single submitter ⚠
- p.Ile72Thr Single submitter
- p.Ile9Val Single submitter ⚠
- p.Lys122Arg Single submitter ⚠
- p.Lys156Arg Single submitter ⚠
- p.Phe140Leu Single submitter ⚠
- p.Pro57Arg Single submitter ⚠
- p.Ser76Pro Single submitter ⚠
- p.Thr161Ser Single submitter ⚠
- p.Trp23Cys Single submitter ⚠
- p.Val131Ala Single submitter ⚠
- p.Val178Ile Single submitter ⚠