CIRSR — 23 ClinVar variants
All ClinVar germline CIRSR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
23 Uncertain significance
Full CIRSR 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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CIRSR p.Arg345Thr Uncertain significance Single submitter
- CIRSR p.Arg360Gly Uncertain significance Single submitter
- CIRSR p.Arg388Gln Uncertain significance Single submitter
- CIRSR p.Arg388Trp Uncertain significance Single submitter
- CIRSR p.Arg409Gln Uncertain significance Single submitter
- CIRSR p.Asp306Asn Uncertain significance Single submitter
- CIRSR p.Asp311Tyr Uncertain significance Single submitter
- CIRSR p.Gln45Pro Uncertain significance Single submitter
- CIRSR p.Glu173Lys Uncertain significance Single submitter
- CIRSR p.Glu198Asp Uncertain significance Single submitter
- CIRSR p.Glu203Val Uncertain significance Single submitter
- CIRSR p.Glu84Gly Uncertain significance Single submitter
- CIRSR p.Gly204Val Uncertain significance Single submitter
- CIRSR p.Gly370Ser Uncertain significance Single submitter
- CIRSR p.His255Gln Uncertain significance Single submitter
- CIRSR p.Leu318Phe Uncertain significance Single submitter
- CIRSR p.Lys288Asn Uncertain significance Single submitter
- CIRSR p.Lys331Glu Uncertain significance Single submitter
- CIRSR p.Lys363Glu Uncertain significance Single submitter
- CIRSR p.Pro411Ala Uncertain significance Single submitter
- CIRSR p.Val156Ile Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All CIRSR variants
Uncertain significance 23
- p.Ala17Ser Single submitter ⚠
- p.Arg345Thr Single submitter ⚠
- p.Arg360Gly Single submitter ⚠
- p.Arg388Gln Single submitter ⚠
- p.Arg388Trp Single submitter ⚠
- p.Arg409Gln Single submitter ⚠
- p.Asp306Asn Single submitter ⚠
- p.Asp311Tyr Single submitter ⚠
- p.Gln45Pro Single submitter ⚠
- p.Glu173Lys Single submitter ⚠
- p.Glu198Asp Single submitter ⚠
- p.Glu203Val Single submitter ⚠
- p.Glu84Gly Single submitter ⚠
- p.Gly204Val Single submitter ⚠
- p.Gly370Ser Single submitter ⚠
- p.His255Gln Single submitter ⚠
- p.Leu318Phe Single submitter ⚠
- p.Lys288Asn Single submitter ⚠
- p.Lys331Glu Single submitter ⚠
- p.Lys363Glu Single submitter ⚠
- p.Pro411Ala Single submitter ⚠
- p.Ser280Arg Single submitter ⚠
- p.Val156Ile Single submitter ⚠