COX11 — 43 ClinVar variants
All ClinVar germline COX11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
4 Pathogenic · 5 Likely benign · 34 Uncertain significance
Full COX11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- COX11 p.Ala109Val Uncertain significance Single submitter
- COX11 p.Ala132Val Uncertain significance Single submitter
- COX11 p.Ala67Val Uncertain significance Single submitter
- COX11 p.Arg64Trp Uncertain significance Single submitter
-
COX11 p.Asp253Val
Uncertain significance
Single submitter
mitochondrial complex IV deficiency, nuclear type 23
- COX11 p.Cys11Tyr Uncertain significance Single submitter
- COX11 p.Cys121Tyr Uncertain significance Single submitter
- COX11 p.Glu30Gln Uncertain significance Single submitter
- COX11 p.Glu85Lys Uncertain significance Single submitter
- COX11 p.Gly128Arg Uncertain significance Single submitter
- COX11 p.Gly44Arg Uncertain significance Single submitter
- COX11 p.Gly45Arg Uncertain significance Single submitter
- COX11 p.Ile255Thr Uncertain significance Single submitter
- COX11 p.Leu53Pro Uncertain significance Single submitter
- COX11 p.Lys269Arg Uncertain significance Single submitter
- COX11 p.Pro13Arg Uncertain significance Single submitter
- COX11 p.Pro241Ala Uncertain significance Single submitter
- COX11 p.Pro34Arg Uncertain significance Single submitter
- COX11 p.Pro71Leu Uncertain significance Single submitter
- COX11 p.Pro79Leu Uncertain significance Single submitter
- COX11 p.Pro79Ser Uncertain significance Single submitter
- COX11 p.Ser24Cys Uncertain significance Single submitter
- COX11 p.Ser24Phe Uncertain significance Single submitter
- COX11 p.Thr180Asn Uncertain significance Single submitter
- COX11 p.Thr81Ile Uncertain significance Single submitter
- COX11 p.Trp56Arg Uncertain significance Single submitter
- COX11 p.Trp5Arg Uncertain significance Single submitter
-
COX11 p.Gln223Arg
Uncertain significance
No assertion criteria
mitochondrial complex IV deficiency, nuclear type 23
-
COX11 p.Phe262Leu
Uncertain significance
No assertion criteria
mitochondrial complex IV deficiency, nuclear type 23
Predictors split 5
The independent predictors disagree with each other — read with care.
- COX11 p.Arg148Gln Uncertain significance Single submitter
- COX11 p.Gln91Pro Uncertain significance Single submitter
- COX11 p.Leu116Ile Uncertain significance Single submitter
- COX11 p.Pro271Leu Uncertain significance Single submitter
-
COX11 p.Ala244Pro
Pathogenic
No assertion criteria
mitochondrial complex IV deficiency, nuclear type 23
All COX11 variants
Pathogenic 4
- p.Ala244Pro No assertion criteria mitochondrial complex IV deficiency, nuclear type 23 ⚠
- p.Pro247Thr No assertion criteria mitochondrial complex IV deficiency, nuclear type 23
- p.Thr256fs No assertion criteria mitochondrial complex IV deficiency, nuclear type 23
- p.Val12fs No assertion criteria mitochondrial complex IV deficiency, nuclear type 23
Likely benign 5
- p.Ala187= Single submitter
- p.Gly8Ala Single submitter
- p.Ile203Val Single submitter
- p.Phe35Cys Single submitter
- p.Thr124= Single submitter
Uncertain significance 34
- p.Ala109Val Single submitter ⚠
- p.Ala132Val Single submitter ⚠
- p.Ala67Val Single submitter ⚠
- p.Arg148Gln Single submitter ⚠
- p.Arg64Trp Single submitter ⚠
- p.Arg90_Gln91insArg Single submitter mitochondrial complex IV deficiency, nuclear type 23
- p.Asp253Val Single submitter mitochondrial complex IV deficiency, nuclear type 23 ⚠
- p.Cys11Tyr Single submitter ⚠
- p.Cys121Tyr Single submitter ⚠
- p.Gln91Pro Single submitter ⚠
- p.Glu30Gln Single submitter ⚠
- p.Glu85Lys Single submitter ⚠
- p.Gly128Arg Single submitter ⚠
- p.Gly44Arg Single submitter ⚠
- p.Gly45Arg Single submitter ⚠
- p.Ile255Thr Single submitter ⚠
- p.Leu116Ile Single submitter ⚠
- p.Leu53Pro Single submitter ⚠
- p.Lys269Arg Single submitter ⚠
- p.Pro13Arg Single submitter ⚠
- p.Pro241Ala Single submitter ⚠
- p.Pro271Leu Single submitter ⚠
- p.Pro34Arg Single submitter ⚠
- p.Pro71Leu Single submitter ⚠
- p.Pro79Leu Single submitter ⚠
- p.Pro79Ser Single submitter ⚠
- p.Ser24Cys Single submitter ⚠
- p.Ser24Phe Single submitter ⚠
- p.Thr180Asn Single submitter ⚠
- p.Thr81Ile Single submitter ⚠
- p.Trp56Arg Single submitter ⚠
- p.Trp5Arg Single submitter ⚠
- p.Gln223Arg No assertion criteria mitochondrial complex IV deficiency, nuclear type 23 ⚠
- p.Phe262Leu No assertion criteria mitochondrial complex IV deficiency, nuclear type 23 ⚠