COX20 — 156 ClinVar variants
All ClinVar germline COX20 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →
5 Pathogenic · 1 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 5 Conflicting · 17 Benign · 1 Benign/Likely benign · 55 Likely benign · 64 Uncertain significance
Full COX20 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 57
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 agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
COX20 p.Gly114Ser
Conflicting
Single submitter
mitochondrial complex IV deficiency, nuclear type 11
-
COX20 p.Phe66Cys
Conflicting
Single submitter
mitochondrial complex IV deficiency, nuclear type 11
Predictors lean, ClinVar uncertain 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
COX20 p.Ala3Thr
Uncertain significance
Multiple submitters
mitochondrial complex IV deficiency, nuclear type 11
-
COX20 p.Arg54Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COX20 p.Cys59Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COX20 p.Glu11Lys
Uncertain significance
Multiple submitters
mitochondrial complex IV deficiency, nuclear type 11
-
COX20 p.Gly20Arg
Uncertain significance
Multiple submitters
mitochondrial complex IV deficiency, nuclear type 11
-
COX20 p.Gly8Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COX20 p.His112Tyr
Uncertain significance
Multiple submitters
mitochondrial complex IV deficiency, nuclear type 11
-
COX20 p.Ser115Gly
Uncertain significance
Multiple submitters
mitochondrial complex IV deficiency, nuclear type 11
-
COX20 p.Tyr101His
Uncertain significance
Multiple submitters
mitochondrial complex IV deficiency, nuclear type 11
-
COX20 p.Cys73Trp
Uncertain significance
Single submitter
mitochondrial complex IV deficiency, nuclear type 11
- COX20 p.Cys77Phe Uncertain significance Single submitter
-
COX20 p.Glu25Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- COX20 p.Glu9Lys Uncertain significance Single submitter
-
COX20 p.Gly40Arg
Uncertain significance
Single submitter
mitochondrial complex IV deficiency, nuclear type 11
-
COX20 p.Gly72Arg
Uncertain significance
Single submitter
mitochondrial complex IV deficiency, nuclear type 11
- COX20 p.His76Asn Uncertain significance Single submitter
-
COX20 p.Ile34Val
Uncertain significance
Single submitter
mitochondrial complex IV deficiency, nuclear type 11
- COX20 p.Ile95Phe Uncertain significance Single submitter
-
COX20 p.Leu16Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
COX20 p.Pro108Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- COX20 p.Pro108Ser Uncertain significance Single submitter
-
COX20 p.Pro4Ser
Uncertain significance
Single submitter
mitochondrial complex IV deficiency, nuclear type 11
- COX20 p.Pro5Ser Uncertain significance Single submitter
-
COX20 p.Pro7Ser
Uncertain significance
Single submitter
mitochondrial complex IV deficiency, nuclear type 11
- COX20 p.Thr104Ala Uncertain significance Single submitter
- COX20 p.Val43Leu Uncertain significance Single submitter
Predictors split 29
The independent predictors disagree with each other — read with care.
-
COX20 p.Arg31Trp
Uncertain significance
Multiple submitters
mitochondrial complex IV deficiency, nuclear type 11
-
COX20 p.Asp107Asn
Uncertain significance
Multiple submitters
mitochondrial complex IV deficiency, nuclear type 11
-
COX20 p.Asp107His
Uncertain significance
Multiple submitters
mitochondrial complex IV deficiency, nuclear type 11
-
COX20 p.Ile90Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COX20 p.Ile90Thr
Uncertain significance
Multiple submitters
mitochondrial complex IV deficiency, nuclear type 11
-
COX20 p.Phe21Ser
Uncertain significance
Multiple submitters
mitochondrial complex IV deficiency, nuclear type 11
- COX20 p.Tyr36Cys Uncertain significance Multiple submitters
-
COX20 p.Val69Met
Uncertain significance
Multiple submitters
mitochondrial complex IV deficiency, nuclear type 11
-
COX20 p.Ala2Thr
Uncertain significance
Single submitter
mitochondrial complex IV deficiency, nuclear type 11
- COX20 p.Ala30Thr Uncertain significance Single submitter
-
COX20 p.Ala3Val
Uncertain significance
Single submitter
mitochondrial complex IV deficiency, nuclear type 11
- COX20 p.Arg31Gln Conflicting Single submitter
- COX20 p.Asp107Tyr Uncertain significance Single submitter
- COX20 p.Asp23Asn Uncertain significance Single submitter
-
COX20 p.Cys59Trp
Uncertain significance
Single submitter
mitochondrial complex IV deficiency, nuclear type 11
- COX20 p.Glu109Val Uncertain significance Single submitter
-
COX20 p.Glu11Asp
Uncertain significance
Single submitter
mitochondrial complex IV deficiency, nuclear type 11
-
COX20 p.Glu9Asp
Uncertain significance
Single submitter
mitochondrial complex IV deficiency, nuclear type 11
- COX20 p.Gly65Glu Uncertain significance Single submitter
-
COX20 p.His48Asn
Uncertain significance
Single submitter
mitochondrial complex IV deficiency, nuclear type 11
-
COX20 p.Ile95Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- COX20 p.Leu100Ser Uncertain significance Single submitter
- COX20 p.Leu100Val Uncertain significance Single submitter
- COX20 p.Leu19Val Uncertain significance Single submitter
- COX20 p.Leu35Phe Uncertain significance Single submitter
- COX20 p.Leu68Trp Uncertain significance Single submitter
-
COX20 p.Lys97Asn
Likely benign
Single submitter
Inborn genetic diseases
- COX20 p.Phe21Leu Uncertain significance Single submitter
- COX20 p.Gly37Ser Uncertain significance No assertion criteria
All COX20 variants
Pathogenic 5
- p.Trp74Cys Single submitter mitochondrial complex IV deficiency, nuclear type 11
- c.157+7A>G No assertion criteria mitochondrial complex IV deficiency, nuclear type 11
- c.42+1G>A No assertion criteria mitochondrial complex IV deficiency, nuclear type 11
- p.Ser33Leu No assertion criteria mitochondrial complex IV deficiency, nuclear type 11
- p.Thr52Pro No assertion criteria mitochondrial complex IV deficiency, nuclear type 11
Pathogenic/Likely pathogenic 1
- c.157+3G>C Multiple submitters mitochondrial complex IV deficiency, nuclear type 11
Likely pathogenic 8
- c.157+1G>A Single submitter
- c.158-4_159delinsGAC Single submitter mitochondrial complex IV deficiency, nuclear type 11
- c.222-1G>A Single submitter mitochondrial complex IV deficiency, nuclear type 11
- p.Arg31fs Single submitter mitochondrial complex IV deficiency, nuclear type 11
- p.Glu6Ter Single submitter mitochondrial complex IV deficiency, nuclear type 11
- p.Leu100del Single submitter
- p.Leu19fs Single submitter mitochondrial complex IV deficiency, nuclear type 11
- p.Tyr36Ter Single submitter mitochondrial complex IV deficiency, nuclear type 11
Conflicting classifications of pathogenicity 5
- c.222-3A>C Single submitter mitochondrial complex IV deficiency, nuclear type 11
- p.Arg31Gln Single submitter ⚠
- p.Gln87Ter Single submitter mitochondrial complex IV deficiency, nuclear type 11
- p.Gly114Ser Single submitter mitochondrial complex IV deficiency, nuclear type 11 ⚠
- p.Phe66Cys Single submitter mitochondrial complex IV deficiency, nuclear type 11 ⚠
Benign 17
- c.157+13A>G Multiple submitters
- c.158-5_158-4insG Multiple submitters
- c.221+153A>C Multiple submitters
- c.221+268C>T Multiple submitters
- c.221+281T>A Multiple submitters
- c.42+9G>A Multiple submitters
- c.43-161G>C Multiple submitters
- p.Asn118Ser Multiple submitters
- p.Cys29= Multiple submitters
- p.Leu106= Multiple submitters
- c.157+17T>C Single submitter
- c.158-5del Single submitter
- c.42+21dup Single submitter
- c.43-9dup Single submitter
- c.-132GGC[1] Single submitter
- c.-239-26C>T Single submitter
- c.*18_*19insAAGAA Single submitter
Benign/Likely benign 1
- p.Ala3Ser Multiple submitters mitochondrial complex IV deficiency, nuclear type 11
Likely benign 55
- c.157+49T>C Multiple submitters
- c.42+743G>C Multiple submitters
- p.Ala2= Multiple submitters
- p.Arg78= Multiple submitters
- p.Asn113= Multiple submitters
- p.Leu39= Multiple submitters mitochondrial complex IV deficiency, nuclear type 11
- p.Leu71= Multiple submitters
- p.Pro10= Multiple submitters
- c.157+10T>C Single submitter
- c.157+11G>A Single submitter
- c.157+19T>C Single submitter
- c.157+20A>C Single submitter
- c.158-15T>C Single submitter
- c.158-17T>C Single submitter
- c.158-5T>G Single submitter
- c.221+20A>C Single submitter
- c.221+249C>T Single submitter
- c.221+9G>A Single submitter
- c.222-15T>C Single submitter
- c.222-16A>G Single submitter
- c.222-36T>C Single submitter
- c.222-8C>T Single submitter
- c.42+11G>C Single submitter
- c.42+13T>C Single submitter
- c.42+156dup Single submitter
- c.42+15G>A Single submitter
- c.42+15G>T Single submitter
- c.42+8G>A Single submitter
- c.43-11_43-9dup Single submitter
- c.43-11T>C Single submitter
- c.43-124G>A Single submitter
- c.43-14T>C Single submitter
- c.43-17_43-15del Single submitter
- c.43-17C>T Single submitter
- c.43-8del Single submitter
- c.-10A>T Single submitter
- c.-38C>T Single submitter
- c.-39C>G Single submitter
- p.Ala3= Single submitter
- p.Arg31= Single submitter
- p.Arg54= Single submitter
- p.Glu109= Single submitter
- p.Glu6= Single submitter
- p.Gly103= Single submitter
- p.Gly114= Single submitter
- p.Gly20= Single submitter
- p.Gly45= Single submitter
- p.Ile55= Single submitter
- p.Ile90= Single submitter
- p.Leu19= Single submitter
- p.Lys97Asn Single submitter Inborn genetic diseases ⚠
- p.Pro7= Single submitter
- p.Ser58= Single submitter
- p.Thr104= Single submitter
- p.Val43= Single submitter
Uncertain significance 64
- p.Ala3Thr Multiple submitters mitochondrial complex IV deficiency, nuclear type 11 ⚠
- p.Arg31Trp Multiple submitters mitochondrial complex IV deficiency, nuclear type 11 ⚠
- p.Arg54Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp107Asn Multiple submitters mitochondrial complex IV deficiency, nuclear type 11 ⚠
- p.Asp107His Multiple submitters mitochondrial complex IV deficiency, nuclear type 11 ⚠
- p.Cys59Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu11Lys Multiple submitters mitochondrial complex IV deficiency, nuclear type 11 ⚠
- p.Gly20Arg Multiple submitters mitochondrial complex IV deficiency, nuclear type 11 ⚠
- p.Gly8Ser Multiple submitters Inborn genetic diseases ⚠
- p.His112Tyr Multiple submitters mitochondrial complex IV deficiency, nuclear type 11 ⚠
- p.Ile90Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ile90Thr Multiple submitters mitochondrial complex IV deficiency, nuclear type 11 ⚠
- p.Met1Thr Multiple submitters mitochondrial complex IV deficiency, nuclear type 11
- p.Phe21Ser Multiple submitters mitochondrial complex IV deficiency, nuclear type 11 ⚠
- p.Ser115Gly Multiple submitters mitochondrial complex IV deficiency, nuclear type 11 ⚠
- p.Tyr101His Multiple submitters mitochondrial complex IV deficiency, nuclear type 11 ⚠
- p.Tyr36Cys Multiple submitters ⚠
- p.Val69Met Multiple submitters mitochondrial complex IV deficiency, nuclear type 11 ⚠
- c.157+6dup Single submitter COX20-related disorder
- c.42+5C>T Single submitter
- c.43-4del Single submitter
- p.Ala2Thr Single submitter mitochondrial complex IV deficiency, nuclear type 11 ⚠
- p.Ala30Thr Single submitter ⚠
- p.Ala3Val Single submitter mitochondrial complex IV deficiency, nuclear type 11 ⚠
- p.Arg57del Single submitter
- p.Asp107Tyr Single submitter ⚠
- p.Asp23Asn Single submitter ⚠
- p.Cys59Trp Single submitter mitochondrial complex IV deficiency, nuclear type 11 ⚠
- p.Cys73Trp Single submitter mitochondrial complex IV deficiency, nuclear type 11 ⚠
- p.Cys77Phe Single submitter ⚠
- p.Glu109Val Single submitter ⚠
- p.Glu11Asp Single submitter mitochondrial complex IV deficiency, nuclear type 11 ⚠
- p.Glu25Ala Single submitter Inborn genetic diseases ⚠
- p.Glu88fs Single submitter
- p.Glu9Asp Single submitter mitochondrial complex IV deficiency, nuclear type 11 ⚠
- p.Glu9Lys Single submitter ⚠
- p.Gly40Arg Single submitter mitochondrial complex IV deficiency, nuclear type 11 ⚠
- p.Gly65Glu Single submitter ⚠
- p.Gly72Arg Single submitter mitochondrial complex IV deficiency, nuclear type 11 ⚠
- p.His48Asn Single submitter mitochondrial complex IV deficiency, nuclear type 11 ⚠
- p.His76Asn Single submitter ⚠
- p.Ile34Val Single submitter mitochondrial complex IV deficiency, nuclear type 11 ⚠
- p.Ile95Phe Single submitter ⚠
- p.Ile95Thr Single submitter Inborn genetic diseases ⚠
- p.Leu100Ser Single submitter ⚠
- p.Leu100Val Single submitter ⚠
- p.Leu16Arg Single submitter Inborn genetic diseases ⚠
- p.Leu19Val Single submitter ⚠
- p.Leu35Phe Single submitter ⚠
- p.Leu68Trp Single submitter ⚠
- p.Phe21Leu Single submitter ⚠
- p.Pro108fs Single submitter mitochondrial complex IV deficiency, nuclear type 11
- p.Pro108Leu Single submitter Inborn genetic diseases ⚠
- p.Pro108Ser Single submitter ⚠
- p.Pro4Ser Single submitter mitochondrial complex IV deficiency, nuclear type 11 ⚠
- p.Pro5Ser Single submitter ⚠
- p.Pro7_Glu11dup Single submitter
- p.Pro7Ser Single submitter mitochondrial complex IV deficiency, nuclear type 11 ⚠
- p.Thr104Ala Single submitter ⚠
- p.Trp74Ter Single submitter
- p.Val43Leu Single submitter ⚠
- p.Val63del Single submitter
- p.Val63fs Single submitter
- p.Gly37Ser No assertion criteria ⚠