COX14 — 42 ClinVar variants
All ClinVar germline COX14 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 20 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 5 Benign · 12 Likely benign · 23 Uncertain significance
Full COX14 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 20
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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- COX14 p.Thr3Ala Uncertain significance Multiple submitters
- COX14 p.Arg33Gln Uncertain significance Single submitter
- COX14 p.Gln39Arg Uncertain significance Single submitter
- COX14 p.Glu50Lys Uncertain significance Single submitter
- COX14 p.Gly55Val Uncertain significance Single submitter
- COX14 p.Lys5Arg Uncertain significance Single submitter
- COX14 p.Thr23Ile Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- COX14 p.Arg41Cys Uncertain significance Multiple submitters
-
COX14 p.Ser54Pro
Uncertain significance
Multiple submitters
mitochondrial complex IV deficiency, nuclear type 10
-
COX14 p.Tyr25Cys
Uncertain significance
Multiple submitters
mitochondrial complex IV deficiency, nuclear type 10
- COX14 p.Ala48Thr Uncertain significance Single submitter
- COX14 p.Ala8Gly Uncertain significance Single submitter
- COX14 p.Arg41His Uncertain significance Single submitter
- COX14 p.Arg45Cys Uncertain significance Single submitter
- COX14 p.Arg45His Uncertain significance Single submitter
- COX14 p.Gln6Pro Uncertain significance Single submitter
- COX14 p.Glu49Asp Uncertain significance Single submitter
- COX14 p.Gly11Ala Uncertain significance Single submitter
- COX14 p.Thr17Pro Uncertain significance Single submitter
- COX14 p.Tyr12Cys Uncertain significance Single submitter
All COX14 variants
Pathogenic 1
- p.Met19Ile No assertion criteria mitochondrial complex IV deficiency, nuclear type 10
Likely pathogenic 1
- p.Tyr28fs Single submitter
Benign 5
- c.-8-132C>T Multiple submitters
- c.-8-1526G>A Multiple submitters
- c.-8-1619T>C Multiple submitters
- c.-8-1187T>C Single submitter
- c.-8-300G>T Single submitter
Likely benign 12
- c.-8-14A>G Multiple submitters mitochondrial complex IV deficiency, nuclear type 10
- p.Glu50= Multiple submitters mitochondrial complex IV deficiency, nuclear type 10
- c.-8-1453C>T Single submitter
- c.-9+15A>G Single submitter
- c.*82C>G Single submitter
- c.*93C>T Single submitter
- p.Ala47= Single submitter
- p.Ala48= Single submitter
- p.Glu49= Single submitter
- p.Gly27= Single submitter
- p.Thr14= Single submitter
- p.Val34= Single submitter
Uncertain significance 23
- p.Arg41Cys Multiple submitters ⚠
- p.Met1Ile Multiple submitters
- p.Ser54Pro Multiple submitters mitochondrial complex IV deficiency, nuclear type 10 ⚠
- p.Thr3Ala Multiple submitters ⚠
- p.Tyr25Cys Multiple submitters mitochondrial complex IV deficiency, nuclear type 10 ⚠
- p.Ala48Thr Single submitter ⚠
- p.Ala8Gly Single submitter ⚠
- p.Arg33Gln Single submitter ⚠
- p.Arg41His Single submitter ⚠
- p.Arg45Cys Single submitter ⚠
- p.Arg45His Single submitter ⚠
- p.Gln39Arg Single submitter ⚠
- p.Gln51Ter Single submitter
- p.Gln6Pro Single submitter ⚠
- p.Glu49Asp Single submitter ⚠
- p.Glu50Lys Single submitter ⚠
- p.Gly11Ala Single submitter ⚠
- p.Gly55Val Single submitter ⚠
- p.Lys5Arg Single submitter ⚠
- p.Thr17Pro Single submitter ⚠
- p.Thr23Ile Single submitter ⚠
- p.Tyr12Cys Single submitter ⚠
- p.Tyr37fs Single submitter