COX6B2 — 12 ClinVar variants
All ClinVar germline COX6B2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →
1 Likely benign · 11 Uncertain significance
Full COX6B2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 10
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.
- COX6B2 p.Arg48Cys Uncertain significance Single submitter
- COX6B2 p.Cys56Phe Uncertain significance Single submitter
- COX6B2 p.His40Tyr Uncertain significance Single submitter
- COX6B2 p.Lys13Ile Uncertain significance Single submitter
- COX6B2 p.Pro9Thr Uncertain significance Single submitter
- COX6B2 p.Trp75Arg Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All COX6B2 variants
Likely benign 1
- p.Glu8Lys Single submitter
Uncertain significance 11
- p.Arg30Cys Single submitter ⚠
- p.Arg48Cys Single submitter ⚠
- p.Asn27Lys Single submitter
- p.Cys56Phe Single submitter ⚠
- p.Gln28Lys Single submitter ⚠
- p.Gly86Ser Single submitter ⚠
- p.His40Arg Single submitter ⚠
- p.His40Tyr Single submitter ⚠
- p.Lys13Ile Single submitter ⚠
- p.Pro9Thr Single submitter ⚠
- p.Trp75Arg Single submitter ⚠