RBBP4 — 12 ClinVar variants
All ClinVar germline RBBP4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 9 flagged for review →
2 Benign · 10 Uncertain significance
Full RBBP4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 9
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 6
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RBBP4 p.Ala2Ser Uncertain significance Single submitter
- RBBP4 p.Ala91Ser Uncertain significance Single submitter
- RBBP4 p.Asn168Thr Uncertain significance Single submitter
- RBBP4 p.Ile139Val Uncertain significance Single submitter
- RBBP4 p.Val111Ile Uncertain significance Single submitter
- RBBP4 p.Val418Met Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All RBBP4 variants
Benign 2
- c.1212+14A>C Multiple submitters
- p.Val151= Multiple submitters
Uncertain significance 10
- p.Ala2Ser Single submitter ⚠
- p.Ala91Ser Single submitter ⚠
- p.Asn168Thr Single submitter ⚠
- p.Gln85His Single submitter
- p.Ile115Phe Single submitter ⚠
- p.Ile139Val Single submitter ⚠
- p.Leu50Phe Single submitter ⚠
- p.Ser112Arg Single submitter ⚠
- p.Val111Ile Single submitter ⚠
- p.Val418Met Single submitter ⚠