CIRBP — 25 ClinVar variants
All ClinVar germline CIRBP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
2 Benign · 1 Likely benign · 22 Uncertain significance
Full CIRBP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CIRBP p.Arg105Cys Uncertain significance Single submitter
- CIRBP p.Gln24Arg Uncertain significance Single submitter
- CIRBP p.Gly149Ser Uncertain significance Single submitter
- CIRBP p.Gly157Ser Uncertain significance Single submitter
- CIRBP p.Gly158Arg Uncertain significance Single submitter
- CIRBP p.Ile57Thr Uncertain significance Single submitter
- CIRBP p.Phe104Tyr Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- CIRBP p.Arg101Trp Uncertain significance Single submitter
- CIRBP p.Arg112Cys Uncertain significance Single submitter
- CIRBP p.Arg112Leu Uncertain significance Single submitter
- CIRBP p.Arg116Lys Uncertain significance Single submitter
- CIRBP p.Arg127Trp Uncertain significance Single submitter
- CIRBP p.Arg139Thr Uncertain significance Single submitter
- CIRBP p.Arg154Trp Uncertain significance Single submitter
- CIRBP p.Arg91His Uncertain significance Single submitter
- CIRBP p.Asn126Ile Uncertain significance Single submitter
- CIRBP p.Glu129Gln Uncertain significance Single submitter
- CIRBP p.Gly133Arg Uncertain significance Single submitter
- CIRBP p.Gly99Arg Uncertain significance Single submitter
- CIRBP p.Phe103Cys Uncertain significance Single submitter
- CIRBP p.Ser115Cys Uncertain significance Single submitter
- CIRBP p.Tyr123Cys Uncertain significance Single submitter
All CIRBP variants
Benign 2
- c.104-10C>T Single submitter
- p.Ser213= Single submitter
Likely benign 1
- p.Ser152Gly Single submitter
Uncertain significance 22
- p.Arg101Trp Single submitter ⚠
- p.Arg105Cys Single submitter ⚠
- p.Arg112Cys Single submitter ⚠
- p.Arg112Leu Single submitter ⚠
- p.Arg116Lys Single submitter ⚠
- p.Arg127Trp Single submitter ⚠
- p.Arg139Thr Single submitter ⚠
- p.Arg154Trp Single submitter ⚠
- p.Arg91His Single submitter ⚠
- p.Asn126Ile Single submitter ⚠
- p.Gln24Arg Single submitter ⚠
- p.Glu129Gln Single submitter ⚠
- p.Gly133Arg Single submitter ⚠
- p.Gly149Ser Single submitter ⚠
- p.Gly157Ser Single submitter ⚠
- p.Gly158Arg Single submitter ⚠
- p.Gly99Arg Single submitter ⚠
- p.Ile57Thr Single submitter ⚠
- p.Phe103Cys Single submitter ⚠
- p.Phe104Tyr Single submitter ⚠
- p.Ser115Cys Single submitter ⚠
- p.Tyr123Cys Single submitter ⚠