COX17 — 8 ClinVar variants
All ClinVar germline COX17 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 8 flagged for review →
8 Uncertain significance
Full COX17 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 8
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.
- COX17 p.Ala10Ser Uncertain significance Single submitter
- COX17 p.Arg33His Uncertain significance Single submitter
- COX17 p.Cys26Phe Uncertain significance Single submitter
- COX17 p.Gly3Ser Uncertain significance Single submitter
- COX17 p.Ile37Phe Uncertain significance Single submitter
- COX17 p.Lys62Asn Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All COX17 variants
Uncertain significance 8
- p.Ala10Ser Single submitter ⚠
- p.Arg33His Single submitter ⚠
- p.Cys26Phe Single submitter ⚠
- p.Glu39Lys Single submitter ⚠
- p.Gly3Ser Single submitter ⚠
- p.Ile37Phe Single submitter ⚠
- p.Lys18Gln Single submitter ⚠
- p.Lys62Asn Single submitter ⚠