COX18 — 63 ClinVar variants
All ClinVar germline COX18 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →
3 Pathogenic · 5 Likely benign · 55 Uncertain significance
Full COX18 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 55
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- COX18 p.Ala131Ser Uncertain significance Single submitter
- COX18 p.Ala187Pro Uncertain significance Single submitter
- COX18 p.Ala195Ser Uncertain significance Single submitter
- COX18 p.Ala26Val Uncertain significance Single submitter
- COX18 p.Ala48Val Uncertain significance Single submitter
- COX18 p.Ala67Val Uncertain significance Single submitter
- COX18 p.Ala92Val Uncertain significance Single submitter
- COX18 p.Arg154Lys Uncertain significance Single submitter
- COX18 p.Arg262Leu Uncertain significance Single submitter
-
COX18 p.Asp223His
Uncertain significance
Single submitter
mitochondrial complex IV deficiency, nuclear type 1
- COX18 p.Asp223Tyr Uncertain significance Single submitter
- COX18 p.Gly7Val Uncertain significance Single submitter
- COX18 p.His50Gln Uncertain significance Single submitter
- COX18 p.Ile182Thr Uncertain significance Single submitter
- COX18 p.Leu101Trp Uncertain significance Single submitter
- COX18 p.Leu137Phe Uncertain significance Single submitter
- COX18 p.Leu296Pro Uncertain significance Single submitter
- COX18 p.Pro24Leu Uncertain significance Single submitter
- COX18 p.Pro27Gln Uncertain significance Single submitter
- COX18 p.Ser313Thr Uncertain significance Single submitter
- COX18 p.Ser89Ala Uncertain significance Single submitter
- COX18 p.Thr121Ile Uncertain significance Single submitter
- COX18 p.Thr274Ala Uncertain significance Single submitter
- COX18 p.Val97Ile Uncertain significance Single submitter
Predictors split 31
The independent predictors disagree with each other — read with care.
- COX18 p.Ala110Val Uncertain significance Single submitter
- COX18 p.Ala187Val Uncertain significance Single submitter
- COX18 p.Ala325Thr Uncertain significance Single submitter
- COX18 p.Ala92Ser Uncertain significance Single submitter
- COX18 p.Arg11Leu Uncertain significance Single submitter
- COX18 p.Arg189Gln Uncertain significance Single submitter
- COX18 p.Arg252Cys Uncertain significance Single submitter
-
COX18 p.Arg303His
Uncertain significance
Single submitter
sensorineural hearing loss disorder
- COX18 p.Arg307Gln Uncertain significance Single submitter
- COX18 p.Arg4Gln Uncertain significance Single submitter
- COX18 p.Asp321Tyr Uncertain significance Single submitter
- COX18 p.Cys306Tyr Uncertain significance Single submitter
- COX18 p.Glu206Gly Uncertain significance Single submitter
- COX18 p.His106Asp Uncertain significance Single submitter
- COX18 p.His166Gln Uncertain significance Single submitter
- COX18 p.Ile230Met Uncertain significance Single submitter
- COX18 p.Leu38Phe Uncertain significance Single submitter
- COX18 p.Leu71Val Uncertain significance Single submitter
-
COX18 p.Leu72Arg
Uncertain significance
Single submitter
charcot-marie-tooth disease, axonal, type 2MM
- COX18 p.Leu72Phe Uncertain significance Single submitter
- COX18 p.Leu88Pro Uncertain significance Single submitter
- COX18 p.Leu99Val Uncertain significance Single submitter
- COX18 p.Pro276Ser Uncertain significance Single submitter
- COX18 p.Pro63Leu Uncertain significance Single submitter
- COX18 p.Ser185Thr Uncertain significance Single submitter
- COX18 p.Thr78Met Uncertain significance Single submitter
- COX18 p.Thr78Ser Uncertain significance Single submitter
- COX18 p.Tyr256Cys Uncertain significance Single submitter
- COX18 p.Val161Leu Uncertain significance Single submitter
- COX18 p.Val240Met Uncertain significance Single submitter
- COX18 p.Val46Ile Uncertain significance Single submitter
All COX18 variants
Pathogenic 3
- c.435-6A>G No assertion criteria charcot-marie-tooth disease, axonal, type 2MM
- p.Ala110Pro No assertion criteria charcot-marie-tooth disease, axonal, type 2MM
- p.Arg298Pro No assertion criteria charcot-marie-tooth disease, axonal, type 2MM
Likely benign 5
- p.Ala131Val Single submitter
- p.Ile271Val Single submitter
- p.Leu58= Single submitter
- p.Ser310Leu Single submitter
- p.Val289Met Single submitter
Uncertain significance 55
- p.Ala110Val Single submitter ⚠
- p.Ala131Ser Single submitter ⚠
- p.Ala187Pro Single submitter ⚠
- p.Ala187Val Single submitter ⚠
- p.Ala195Ser Single submitter ⚠
- p.Ala26Val Single submitter ⚠
- p.Ala325Thr Single submitter ⚠
- p.Ala48Val Single submitter ⚠
- p.Ala67Val Single submitter ⚠
- p.Ala92Ser Single submitter ⚠
- p.Ala92Val Single submitter ⚠
- p.Arg11Leu Single submitter ⚠
- p.Arg154Lys Single submitter ⚠
- p.Arg189Gln Single submitter ⚠
- p.Arg252Cys Single submitter ⚠
- p.Arg262Leu Single submitter ⚠
- p.Arg303His Single submitter sensorineural hearing loss disorder ⚠
- p.Arg307Gln Single submitter ⚠
- p.Arg4Gln Single submitter ⚠
- p.Asp223His Single submitter mitochondrial complex IV deficiency, nuclear type 1 ⚠
- p.Asp223Tyr Single submitter ⚠
- p.Asp321Tyr Single submitter ⚠
- p.Cys306Tyr Single submitter ⚠
- p.Glu206Gly Single submitter ⚠
- p.Gly7Val Single submitter ⚠
- p.His106Asp Single submitter ⚠
- p.His166Gln Single submitter ⚠
- p.His50Gln Single submitter ⚠
- p.Ile182Thr Single submitter ⚠
- p.Ile230Met Single submitter ⚠
- p.Leu101Trp Single submitter ⚠
- p.Leu137Phe Single submitter ⚠
- p.Leu296Pro Single submitter ⚠
- p.Leu38Phe Single submitter ⚠
- p.Leu71Val Single submitter ⚠
- p.Leu72Arg Single submitter charcot-marie-tooth disease, axonal, type 2MM ⚠
- p.Leu72Phe Single submitter ⚠
- p.Leu88Pro Single submitter ⚠
- p.Leu99Val Single submitter ⚠
- p.Pro24Leu Single submitter ⚠
- p.Pro276Ser Single submitter ⚠
- p.Pro27Gln Single submitter ⚠
- p.Pro63Leu Single submitter ⚠
- p.Ser185Thr Single submitter ⚠
- p.Ser313Thr Single submitter ⚠
- p.Ser89Ala Single submitter ⚠
- p.Thr121Ile Single submitter ⚠
- p.Thr274Ala Single submitter ⚠
- p.Thr78Met Single submitter ⚠
- p.Thr78Ser Single submitter ⚠
- p.Tyr256Cys Single submitter ⚠
- p.Val161Leu Single submitter ⚠
- p.Val240Met Single submitter ⚠
- p.Val46Ile Single submitter ⚠
- p.Val97Ile Single submitter ⚠