COX16 — 18 ClinVar variants

All ClinVar germline COX16 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →

1 Pathogenic · 1 Likely pathogenic · 3 Likely benign · 13 Uncertain significance

Full COX16 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 12

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.

Predictors split 6

The independent predictors disagree with each other — read with care.

All COX16 variants

Pathogenic 1

p.Arg82Ter No assertion criteria mitochondrial complex IV deficiency, nuclear type 22

Likely pathogenic 1

p.Leu63fs Single submitter mitochondrial complex IV deficiency, nuclear type 22

Likely benign 3

p.Ile70= Single submitter
p.Leu24= Single submitter
p.Ser65= Single submitter

Uncertain significance 13

p.Ser62Pro Multiple submitters ⚠
c.141+10A>G Single submitter mitochondrial complex IV deficiency, nuclear type 22
p.Arg11Leu Single submitter ⚠
p.Arg34His Single submitter ⚠
p.Asn80Asp Single submitter ⚠
p.Gly17Ser Single submitter ⚠
p.Ile70Met Single submitter ⚠
p.Leu56Met Single submitter ⚠
p.Lys14Thr Single submitter ⚠
p.Lys69Glu Single submitter ⚠
p.Pro84Leu Single submitter ⚠
p.Ser65Leu Single submitter ⚠
p.Val20Ile Single submitter ⚠