CDO1 — 27 ClinVar variants
All ClinVar germline CDO1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
2 Likely benign · 25 Uncertain significance
Full CDO1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CDO1 p.Asn175Ser Uncertain significance Single submitter
- CDO1 p.Asn29Asp Uncertain significance Single submitter
- CDO1 p.Asn61Thr Uncertain significance Single submitter
- CDO1 p.Glu143Lys Uncertain significance Single submitter
- CDO1 p.Ile16Val Uncertain significance Single submitter
- CDO1 p.Ile18Val Uncertain significance Single submitter
- CDO1 p.Leu156Met Uncertain significance Single submitter
- CDO1 p.Met49Thr Uncertain significance Single submitter
- CDO1 p.Pro110Ala Uncertain significance Single submitter
- CDO1 p.Thr89Ala Uncertain significance Single submitter
- CDO1 p.Tyr40His Uncertain significance Single submitter
- CDO1 p.Val30Ala Uncertain significance Single submitter
- CDO1 p.Val63Ala Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- CDO1 p.Ala131Val Uncertain significance Single submitter
- CDO1 p.Ala51Ser Uncertain significance Single submitter
- CDO1 p.His147Arg Uncertain significance Single submitter
- CDO1 p.His165Arg Uncertain significance Single submitter
- CDO1 p.Ile133Leu Uncertain significance Single submitter
- CDO1 p.Ile85Val Uncertain significance Single submitter
- CDO1 p.Leu15Met Uncertain significance Single submitter
- CDO1 p.Lys8Asn Uncertain significance Single submitter
- CDO1 p.Met37Leu Likely benign Single submitter
- CDO1 p.Ser194Leu Uncertain significance Single submitter
- CDO1 p.Thr148Met Uncertain significance Single submitter
- CDO1 p.Tyr56Cys Uncertain significance Single submitter
- CDO1 p.Val152Met Uncertain significance Single submitter
All CDO1 variants
Likely benign 2
- p.Met37Leu Single submitter ⚠
- c.171-3dup No assertion criteria CDO1-related disorder
Uncertain significance 25
- p.Ala131Val Single submitter ⚠
- p.Ala51Ser Single submitter ⚠
- p.Asn175Ser Single submitter ⚠
- p.Asn29Asp Single submitter ⚠
- p.Asn61Thr Single submitter ⚠
- p.Glu143Lys Single submitter ⚠
- p.His147Arg Single submitter ⚠
- p.His165Arg Single submitter ⚠
- p.Ile133Leu Single submitter ⚠
- p.Ile16Val Single submitter ⚠
- p.Ile18Val Single submitter ⚠
- p.Ile85Val Single submitter ⚠
- p.Leu156Met Single submitter ⚠
- p.Leu15Met Single submitter ⚠
- p.Lys8Asn Single submitter ⚠
- p.Met49Thr Single submitter ⚠
- p.Pro110Ala Single submitter ⚠
- p.Ser194Leu Single submitter ⚠
- p.Thr148Met Single submitter ⚠
- p.Thr89Ala Single submitter ⚠
- p.Tyr40His Single submitter ⚠
- p.Tyr56Cys Single submitter ⚠
- p.Val152Met Single submitter ⚠
- p.Val30Ala Single submitter ⚠
- p.Val63Ala Single submitter ⚠