COX6A2 — 28 ClinVar variants
All ClinVar germline COX6A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →
1 Likely pathogenic · 2 Conflicting · 1 Benign · 1 Likely benign · 23 Uncertain significance
Full COX6A2 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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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COX6A2 p.Cys43Arg
Conflicting
Single submitter
mitochondrial complex IV deficiency, nuclear type 18
Predictors lean, ClinVar uncertain 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- COX6A2 p.Arg60Cys Uncertain significance Single submitter
- COX6A2 p.Arg66Gly Uncertain significance Single submitter
- COX6A2 p.Arg68His Uncertain significance Single submitter
- COX6A2 p.Asn46Ile Uncertain significance Single submitter
- COX6A2 p.Gly75Trp Uncertain significance Single submitter
- COX6A2 p.Pro38Ser Uncertain significance Single submitter
- COX6A2 p.Thr80Ile Uncertain significance Single submitter
- COX6A2 p.Trp74Cys Uncertain significance Single submitter
- COX6A2 p.Tyr94Cys Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- COX6A2 p.Leu81Val Uncertain significance Multiple submitters
- COX6A2 p.Ala2Thr Uncertain significance Single submitter
- COX6A2 p.Arg54Leu Uncertain significance Single submitter
- COX6A2 p.Asn78Lys Uncertain significance Single submitter
- COX6A2 p.Gly52Ser Uncertain significance Single submitter
- COX6A2 p.His53Tyr Uncertain significance Single submitter
- COX6A2 p.His86Gln Uncertain significance Single submitter
- COX6A2 p.Leu12Val Conflicting Single submitter
- COX6A2 p.Pro71His Uncertain significance Single submitter
- COX6A2 p.Pro71Ser Uncertain significance Single submitter
- COX6A2 p.Pro89Ser Uncertain significance Single submitter
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COX6A2 p.Ser39Arg
Likely pathogenic
Single submitter
mitochondrial complex IV deficiency, nuclear type 18
- COX6A2 p.Ser85Asn Uncertain significance Single submitter
- COX6A2 p.Thr27Ser Uncertain significance Single submitter
- COX6A2 p.Thr92Met Uncertain significance Single submitter
All COX6A2 variants
Likely pathogenic 1
- p.Ser39Arg Single submitter mitochondrial complex IV deficiency, nuclear type 18 ⚠
Conflicting classifications of pathogenicity 2
- p.Cys43Arg Single submitter mitochondrial complex IV deficiency, nuclear type 18 ⚠
- p.Leu12Val Single submitter ⚠
Benign 1
- p.Pro73= Single submitter
Likely benign 1
- p.Ser85= No assertion criteria COX6A2-related disorder
Uncertain significance 23
- p.Leu81Val Multiple submitters ⚠
- p.Ala2Thr Single submitter ⚠
- p.Arg54Leu Single submitter ⚠
- p.Arg60Cys Single submitter ⚠
- p.Arg66Gly Single submitter ⚠
- p.Arg68His Single submitter ⚠
- p.Asn46Ile Single submitter ⚠
- p.Asn78Lys Single submitter ⚠
- p.Gly52Ser Single submitter ⚠
- p.Gly75Trp Single submitter ⚠
- p.His53Tyr Single submitter ⚠
- p.His86Gln Single submitter ⚠
- p.Met1Thr Single submitter
- p.Pro38Ser Single submitter ⚠
- p.Pro71His Single submitter ⚠
- p.Pro71Ser Single submitter ⚠
- p.Pro89Ser Single submitter ⚠
- p.Ser85Asn Single submitter ⚠
- p.Thr27Ser Single submitter ⚠
- p.Thr80Ile Single submitter ⚠
- p.Thr92Met Single submitter ⚠
- p.Trp74Cys Single submitter ⚠
- p.Tyr94Cys Single submitter ⚠