COX6C — 14 ClinVar variants
All ClinVar germline COX6C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 13 flagged for review →
1 Likely benign · 13 Uncertain significance
Full COX6C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 13
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 5
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 8
The independent predictors disagree with each other — read with care.
- COX6C p.Ala16Ser Uncertain significance Single submitter
- COX6C p.Arg18His Uncertain significance Single submitter
- COX6C p.Lys8Glu Uncertain significance Single submitter
- COX6C p.Met11Ile Uncertain significance Single submitter
- COX6C p.Met65Leu Uncertain significance Single submitter
- COX6C p.Tyr53Cys Uncertain significance Single submitter
- COX6C p.Val25Leu Uncertain significance Single submitter
- COX6C p.Val58Ile Uncertain significance Single submitter
All COX6C variants
Likely benign 1
- p.Ala24Val Single submitter
Uncertain significance 13
- p.Ala16Ser Single submitter ⚠
- p.Arg18His Single submitter ⚠
- p.Arg40His Single submitter ⚠
- p.Arg66Lys Single submitter ⚠
- p.Asn21Ser Single submitter ⚠
- p.Glu4Gln Single submitter ⚠
- p.Glu64Asp Single submitter ⚠
- p.Lys8Glu Single submitter ⚠
- p.Met11Ile Single submitter ⚠
- p.Met65Leu Single submitter ⚠
- p.Tyr53Cys Single submitter ⚠
- p.Val25Leu Single submitter ⚠
- p.Val58Ile Single submitter ⚠