CIAO2A — 25 ClinVar variants
All ClinVar germline CIAO2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →
25 Uncertain significance
Full CIAO2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 25
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CIAO2A p.Ala140Val Uncertain significance Single submitter
- CIAO2A p.Arg149Trp Uncertain significance Single submitter
- CIAO2A p.Arg14Gly Uncertain significance Single submitter
- CIAO2A p.Cys155Tyr Uncertain significance Single submitter
- CIAO2A p.Gly6Arg Uncertain significance Single submitter
- CIAO2A p.Ile151Thr Uncertain significance Single submitter
- CIAO2A p.Ile47Leu Uncertain significance Single submitter
- CIAO2A p.Ile81Val Uncertain significance Single submitter
- CIAO2A p.Leu16Arg Uncertain significance Single submitter
- CIAO2A p.Leu43Ser Uncertain significance Single submitter
- CIAO2A p.Leu8Pro Uncertain significance Single submitter
- CIAO2A p.Pro88Ser Uncertain significance Single submitter
- CIAO2A p.Ser22Ala Uncertain significance Single submitter
- CIAO2A p.Thr11Ser Uncertain significance Single submitter
- CIAO2A p.Trp10Gly Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- CIAO2A p.Arg48Gln Uncertain significance Single submitter
- CIAO2A p.Arg48Trp Uncertain significance Single submitter
- CIAO2A p.Gln105Glu Uncertain significance Single submitter
- CIAO2A p.Glu150Lys Uncertain significance Single submitter
- CIAO2A p.Glu153Lys Uncertain significance Single submitter
- CIAO2A p.Lys36Glu Uncertain significance Single submitter
- CIAO2A p.Ser63Leu Uncertain significance Single submitter
- CIAO2A p.Thr46Ser Uncertain significance Single submitter
- CIAO2A p.Thr84Met Uncertain significance Single submitter
- CIAO2A p.Tyr117Cys Uncertain significance Single submitter
All CIAO2A variants
Uncertain significance 25
- p.Ala140Val Single submitter ⚠
- p.Arg149Trp Single submitter ⚠
- p.Arg14Gly Single submitter ⚠
- p.Arg48Gln Single submitter ⚠
- p.Arg48Trp Single submitter ⚠
- p.Cys155Tyr Single submitter ⚠
- p.Gln105Glu Single submitter ⚠
- p.Glu150Lys Single submitter ⚠
- p.Glu153Lys Single submitter ⚠
- p.Gly6Arg Single submitter ⚠
- p.Ile151Thr Single submitter ⚠
- p.Ile47Leu Single submitter ⚠
- p.Ile81Val Single submitter ⚠
- p.Leu16Arg Single submitter ⚠
- p.Leu43Ser Single submitter ⚠
- p.Leu8Pro Single submitter ⚠
- p.Lys36Glu Single submitter ⚠
- p.Pro88Ser Single submitter ⚠
- p.Ser22Ala Single submitter ⚠
- p.Ser63Leu Single submitter ⚠
- p.Thr11Ser Single submitter ⚠
- p.Thr46Ser Single submitter ⚠
- p.Thr84Met Single submitter ⚠
- p.Trp10Gly Single submitter ⚠
- p.Tyr117Cys Single submitter ⚠