CIR1 — 10 ClinVar variants
All ClinVar germline CIR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →
10 Uncertain significance
Full CIR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 10
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.
- CIR1 p.Arg337Lys Uncertain significance Single submitter
- CIR1 p.Arg406Gln Uncertain significance Single submitter
- CIR1 p.Arg406Trp Uncertain significance Single submitter
- CIR1 p.Asn193Asp Uncertain significance Single submitter
- CIR1 p.Met434Thr Uncertain significance Single submitter
- CIR1 p.Thr158Ala Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All CIR1 variants
Uncertain significance 10
- p.Arg183Gln Single submitter ⚠
- p.Arg337Lys Single submitter ⚠
- p.Arg391Gln Single submitter ⚠
- p.Arg406Gln Single submitter ⚠
- p.Arg406Trp Single submitter ⚠
- p.Asn193Asp Single submitter ⚠
- p.His352Tyr Single submitter ⚠
- p.Lys233Glu Single submitter ⚠
- p.Met434Thr Single submitter ⚠
- p.Thr158Ala Single submitter ⚠