CYRIA — 21 ClinVar variants
All ClinVar germline CYRIA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
21 Uncertain significance
Full CYRIA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 21
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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CYRIA p.Ala81Val Uncertain significance Single submitter
- CYRIA p.Asp51Glu Uncertain significance Single submitter
- CYRIA p.Gly2Glu Uncertain significance Single submitter
- CYRIA p.Ile72Val Uncertain significance Single submitter
- CYRIA p.Leu234Pro Uncertain significance Single submitter
- CYRIA p.Leu4Met Uncertain significance Single submitter
- CYRIA p.Met250Val Uncertain significance Single submitter
- CYRIA p.Ser47Asn Uncertain significance Single submitter
- CYRIA p.Thr28Arg Uncertain significance Single submitter
- CYRIA p.Val286Ala Uncertain significance Single submitter
- CYRIA p.Val286Ile Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- CYRIA p.Arg140Gln Uncertain significance Single submitter
- CYRIA p.Arg166Cys Uncertain significance Single submitter
- CYRIA p.Arg319Gln Uncertain significance Single submitter
- CYRIA p.Asn180His Uncertain significance Single submitter
- CYRIA p.Asp173Asn Uncertain significance Single submitter
- CYRIA p.Ile167Thr Uncertain significance Single submitter
- CYRIA p.Ile48Met Uncertain significance Single submitter
- CYRIA p.Ser163Asn Uncertain significance Single submitter
- CYRIA p.Ser294Asn Uncertain significance Single submitter
- CYRIA p.Ser47Arg Uncertain significance Single submitter
All CYRIA variants
Uncertain significance 21
- p.Ala81Val Single submitter ⚠
- p.Arg140Gln Single submitter ⚠
- p.Arg166Cys Single submitter ⚠
- p.Arg319Gln Single submitter ⚠
- p.Asn180His Single submitter ⚠
- p.Asp173Asn Single submitter ⚠
- p.Asp51Glu Single submitter ⚠
- p.Gly2Glu Single submitter ⚠
- p.Ile167Thr Single submitter ⚠
- p.Ile48Met Single submitter ⚠
- p.Ile72Val Single submitter ⚠
- p.Leu234Pro Single submitter ⚠
- p.Leu4Met Single submitter ⚠
- p.Met250Val Single submitter ⚠
- p.Ser163Asn Single submitter ⚠
- p.Ser294Asn Single submitter ⚠
- p.Ser47Arg Single submitter ⚠
- p.Ser47Asn Single submitter ⚠
- p.Thr28Arg Single submitter ⚠
- p.Val286Ala Single submitter ⚠
- p.Val286Ile Single submitter ⚠