COX6A1 — 110 ClinVar variants
All ClinVar germline COX6A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →
1 Pathogenic · 2 Conflicting · 5 Benign · 2 Benign/Likely benign · 47 Likely benign · 53 Uncertain significance
Full COX6A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 50
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.
Predictors lean, ClinVar uncertain 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- COX6A1 p.Glu107Lys Uncertain significance Multiple submitters
- COX6A1 p.Leu77Val Uncertain significance Multiple submitters
- COX6A1 p.Ser10Cys Uncertain significance Multiple submitters
- COX6A1 p.Ser7Phe Uncertain significance Multiple submitters
- COX6A1 p.Ser7Thr Uncertain significance Multiple submitters
- COX6A1 p.Thr42Ile Uncertain significance Multiple submitters
- COX6A1 p.Val4Phe Uncertain significance Multiple submitters
- COX6A1 p.Arg15Gly Uncertain significance Single submitter
- COX6A1 p.Arg17Cys Uncertain significance Single submitter
- COX6A1 p.Arg80Ser Uncertain significance Single submitter
- COX6A1 p.Glu32Asp Uncertain significance Single submitter
- COX6A1 p.Gly14Ser Uncertain significance Single submitter
- COX6A1 p.Gly21Val Uncertain significance Single submitter
- COX6A1 p.Gly5Val Uncertain significance Single submitter
- COX6A1 p.Gly89Ser Uncertain significance Single submitter
- COX6A1 p.His76Arg Uncertain significance Single submitter
- COX6A1 p.His76Asn Uncertain significance Single submitter
- COX6A1 p.His91Arg Uncertain significance Single submitter
- COX6A1 p.His95Tyr Uncertain significance Single submitter
- COX6A1 p.Met37Leu Uncertain significance Single submitter
- COX6A1 p.Pro85Leu Uncertain significance Single submitter
- COX6A1 p.Ser16Phe Uncertain significance Single submitter
- COX6A1 p.Ser7Pro Uncertain significance Single submitter
- COX6A1 p.Val3Ala Uncertain significance Single submitter
- COX6A1 p.Val4Gly Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
- COX6A1 p.Ala2Ser Uncertain significance Multiple submitters
- COX6A1 p.Arg11Pro Uncertain significance Multiple submitters
- COX6A1 p.Arg17His Uncertain significance Multiple submitters
- COX6A1 p.Arg36Cys Uncertain significance Multiple submitters
- COX6A1 p.His98Tyr Uncertain significance Multiple submitters
- COX6A1 p.Ser7Cys Uncertain significance Multiple submitters
- COX6A1 p.Ala28Pro Uncertain significance Single submitter
- COX6A1 p.Ala28Val Uncertain significance Single submitter
- COX6A1 p.Ala2Val Uncertain significance Single submitter
- COX6A1 p.Arg15Gln Uncertain significance Single submitter
- COX6A1 p.Arg22Trp Uncertain significance Single submitter
- COX6A1 p.His29Leu Uncertain significance Single submitter
- COX6A1 p.His62Tyr Uncertain significance Single submitter
- COX6A1 p.His76Tyr Uncertain significance Single submitter
- COX6A1 p.Met24Val Likely benign Single submitter
- COX6A1 p.Met37Arg Uncertain significance Single submitter
-
COX6A1 p.Met54Val
Conflicting
Single submitter
Charcot-Marie-Tooth disease recessive intermediate D
- COX6A1 p.Pro69Leu Uncertain significance Single submitter
- COX6A1 p.Pro69Ser Uncertain significance Single submitter
- COX6A1 p.Pro83Leu Uncertain significance Single submitter
- COX6A1 p.Ser25Leu Uncertain significance Single submitter
- COX6A1 p.Thr104Ala Uncertain significance Single submitter
- COX6A1 p.Thr81Ser Likely benign Single submitter
- COX6A1 p.Tyr58Cys Uncertain significance Single submitter
All COX6A1 variants
Pathogenic 1
- c.247-7_247-3del Multiple submitters Charcot-Marie-Tooth disease recessive intermediate D
Conflicting classifications of pathogenicity 2
- p.Ile72Val Single submitter ⚠
- p.Met54Val Single submitter Charcot-Marie-Tooth disease recessive intermediate D ⚠
Benign 5
- c.103+33A>C Multiple submitters
- c.246+152T>A Multiple submitters
- c.247-25T>C Multiple submitters
- c.*190T>C Multiple submitters
- c.104-6C>T Single submitter
Benign/Likely benign 2
- c.103+12G>A Multiple submitters
- p.Pro83= Multiple submitters
Likely benign 47
- c.-155T>C Multiple submitters
- c.-48G>A Multiple submitters
- p.Leu12= Multiple submitters
- p.Pro75= Multiple submitters
- c.103+13G>T Single submitter
- c.103+22G>A Single submitter
- c.104-11C>T Single submitter
- c.104-12G>A Single submitter
- c.104-20C>T Single submitter
- c.104-4G>A Single submitter
- c.246+11G>C Single submitter
- c.246+12T>G Single submitter
- c.246+15_246+18dup Single submitter
- c.246+19C>T Single submitter
- c.246+245C>A Single submitter
- c.247-13C>G Single submitter
- c.247-6C>A Single submitter
- c.-45A>G Single submitter
- p.Ala2= Single submitter
- p.Ala28= Single submitter
- p.Ala46= Single submitter
- p.Ala51= Single submitter
- p.Ala73= Single submitter
- p.Arg78= Single submitter
- p.Gly105= Single submitter
- p.Gly27= Single submitter
- p.Gly49= Single submitter
- p.His62= Single submitter
- p.His63= Single submitter
- p.Ile72= Single submitter
- p.Leu47= Single submitter
- p.Leu59= Single submitter
- p.Leu93= Single submitter
- p.Met24Val Single submitter ⚠
- p.Phe43= Single submitter
- p.Phe44= Single submitter
- p.Pro85= Single submitter
- p.Ser16= Single submitter
- p.Ser7= Single submitter
- p.Thr104= Single submitter
- p.Thr42= Single submitter
- p.Thr81Ser Single submitter ⚠
- p.Thr92= Single submitter
- p.Tyr106= Single submitter
- p.Tyr74= Single submitter
- p.Val3= Single submitter
- p.Val9= Single submitter
Uncertain significance 53
- p.Ala2Ser Multiple submitters ⚠
- p.Arg11Pro Multiple submitters ⚠
- p.Arg17His Multiple submitters ⚠
- p.Arg36Cys Multiple submitters ⚠
- p.Glu107Lys Multiple submitters ⚠
- p.His98Tyr Multiple submitters ⚠
- p.Leu77Val Multiple submitters ⚠
- p.Ser10Cys Multiple submitters ⚠
- p.Ser7Cys Multiple submitters ⚠
- p.Ser7Phe Multiple submitters ⚠
- p.Ser7Thr Multiple submitters ⚠
- p.Thr42Ile Multiple submitters ⚠
- p.Val4Phe Multiple submitters ⚠
- c.103+1G>C Single submitter peripheral neuropathy
- c.104-1G>C Single submitter
- c.-5C>A Single submitter
- p.Ala28Pro Single submitter ⚠
- p.Ala28Val Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Arg15Gln Single submitter ⚠
- p.Arg15Gly Single submitter ⚠
- p.Arg17Cys Single submitter ⚠
- p.Arg22Trp Single submitter ⚠
- p.Arg80Ser Single submitter ⚠
- p.Asn56fs Single submitter
- p.Glu32Asp Single submitter ⚠
- p.Gly14Ser Single submitter ⚠
- p.Gly21Val Single submitter ⚠
- p.Gly5Val Single submitter ⚠
- p.Gly89Ser Single submitter ⚠
- p.His29Leu Single submitter ⚠
- p.His62Tyr Single submitter ⚠
- p.His76Arg Single submitter ⚠
- p.His76Asn Single submitter ⚠
- p.His76Tyr Single submitter ⚠
- p.His91Arg Single submitter ⚠
- p.His95Tyr Single submitter ⚠
- p.Leu41fs Single submitter
- p.Met1Ile Single submitter
- p.Met37Arg Single submitter ⚠
- p.Met37Leu Single submitter ⚠
- p.Pro69Leu Single submitter ⚠
- p.Pro69Ser Single submitter ⚠
- p.Pro83Leu Single submitter ⚠
- p.Pro85Leu Single submitter ⚠
- p.Ser16Phe Single submitter ⚠
- p.Ser25Leu Single submitter ⚠
- p.Ser34Ter Single submitter
- p.Ser7Pro Single submitter ⚠
- p.Thr104Ala Single submitter ⚠
- p.Tyr58Cys Single submitter ⚠
- p.Val3Ala Single submitter ⚠
- p.Val4Gly Single submitter ⚠