COX15 — 501 ClinVar variants
All ClinVar germline COX15 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 120 flagged for review →
15 Pathogenic · 8 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 30 Conflicting · 22 Benign · 7 Benign/Likely benign · 199 Likely benign · 204 Uncertain significance
Full COX15 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 120
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 14
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
COX15 p.Ala25Ser
Conflicting
Single submitter
Inborn genetic diseases
-
COX15 p.Arg157Cys
Conflicting
Single submitter
Inborn genetic diseases
-
COX15 p.Arg222Cys
Conflicting
Single submitter
Leigh syndrome
-
COX15 p.Arg28Thr
Conflicting
Single submitter
Inborn genetic diseases
-
COX15 p.Arg36Cys
Conflicting
Single submitter
Inborn genetic diseases
- COX15 p.Arg36His Conflicting Single submitter
-
COX15 p.Arg55Lys
Conflicting
Single submitter
Inborn genetic diseases
-
COX15 p.Gly96Val
Conflicting
Single submitter
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
-
COX15 p.Ile311Met
Conflicting
Single submitter
Inborn genetic diseases
-
COX15 p.Pro310Arg
Conflicting
Single submitter
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
-
COX15 p.Ser344Pro
Conflicting
Single submitter
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
-
COX15 p.Tyr17Cys
Conflicting
Single submitter
Inborn genetic diseases
-
COX15 p.Val334Phe
Conflicting
Single submitter
Inborn genetic diseases
-
COX15 p.Val339Met
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 80
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
COX15 p.Ala364Val
Uncertain significance
Multiple submitters
Leigh syndrome
-
COX15 p.Arg153Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COX15 p.Arg222His
Uncertain significance
Multiple submitters
Leigh syndrome
- COX15 p.Arg327Trp Uncertain significance Multiple submitters
- COX15 p.Arg345Gln Uncertain significance Multiple submitters
-
COX15 p.Arg67Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COX15 p.Asp136His
Uncertain significance
Multiple submitters
Leigh syndrome
-
COX15 p.Gln2Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- COX15 p.Glu94Ala Uncertain significance Multiple submitters
-
COX15 p.Gly179Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COX15 p.Gly182Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COX15 p.Gly41Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COX15 p.Gly54Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COX15 p.Leu20His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COX15 p.Leu227Val
Uncertain significance
Multiple submitters
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
-
COX15 p.Leu349Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COX15 p.Pro19Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COX15 p.Pro310Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COX15 p.Ser44Asn
Uncertain significance
Multiple submitters
Leigh syndrome
-
COX15 p.Ser95Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COX15 p.Trp239Cys
Uncertain significance
Multiple submitters
Leigh syndrome
-
COX15 c.-307C>G
Uncertain significance
Single submitter
Leigh syndrome
- COX15 p.Ala224Thr Uncertain significance Single submitter
- COX15 p.Ala25Thr Uncertain significance Single submitter
- COX15 p.Ala286Val Uncertain significance Single submitter
- COX15 p.Arg172Lys Uncertain significance Single submitter
- COX15 p.Arg217Gln Uncertain significance Single submitter
- COX15 p.Arg327Gln Uncertain significance Single submitter
- COX15 p.Arg351Gly Uncertain significance Single submitter
- COX15 p.Arg55Gly Uncertain significance Single submitter
-
COX15 p.Arg71Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- COX15 p.Asp214Asn Uncertain significance Single submitter
- COX15 p.Cys235Tyr Uncertain significance Single submitter
- COX15 p.Gln16Arg Uncertain significance Single submitter
- COX15 p.Gln259Pro Uncertain significance Single submitter
- COX15 p.Gln323His Uncertain significance Single submitter
-
COX15 p.Glu149Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- COX15 p.Gly14Ala Uncertain significance Single submitter
- COX15 p.Gly278Arg Uncertain significance Single submitter
-
COX15 p.Gly297Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- COX15 p.Gly41Trp Uncertain significance Single submitter
-
COX15 p.Gly78Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- COX15 p.Gly78Arg Uncertain significance Single submitter
- COX15 p.His213Asp Uncertain significance Single submitter
- COX15 p.His265Arg Uncertain significance Single submitter
- COX15 p.Ile164Leu Uncertain significance Single submitter
-
COX15 p.Ile164Val
Uncertain significance
Single submitter
Leigh syndrome
- COX15 p.Leu12Phe Uncertain significance Single submitter
- COX15 p.Leu185Val Uncertain significance Single submitter
- COX15 p.Leu18Arg Uncertain significance Single submitter
-
COX15 p.Leu223His
Uncertain significance
Single submitter
Inborn genetic diseases
-
COX15 p.Leu340Pro
Uncertain significance
Single submitter
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
- COX15 p.Leu343Arg Uncertain significance Single submitter
-
COX15 p.Leu73Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- COX15 p.Leu9Phe Uncertain significance Single submitter
- COX15 p.Leu9Ser Uncertain significance Single submitter
- COX15 p.Lys143Thr Uncertain significance Single submitter
- COX15 p.Lys173Arg Uncertain significance Single submitter
- COX15 p.Lys209Arg Uncertain significance Single submitter
- COX15 p.Phe121Ser Uncertain significance Single submitter
- COX15 p.Phe142Leu Uncertain significance Single submitter
- COX15 p.Phe144Leu Uncertain significance Single submitter
- COX15 p.Pro111Arg Uncertain significance Single submitter
-
COX15 p.Pro216Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
COX15 p.Pro248Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- COX15 p.Pro248Leu Uncertain significance Single submitter
- COX15 p.Pro37Leu Uncertain significance Single submitter
- COX15 p.Ser344Tyr Uncertain significance Single submitter
- COX15 p.Ser59Cys Uncertain significance Single submitter
-
COX15 p.Ser98Leu
Uncertain significance
Single submitter
Leigh syndrome
- COX15 p.Thr112Ile Uncertain significance Single submitter
- COX15 p.Thr274Met Uncertain significance Single submitter
- COX15 p.Thr79Arg Uncertain significance Single submitter
-
COX15 p.Trp102Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- COX15 p.Trp171Cys Uncertain significance Single submitter
- COX15 p.Trp400Cys Uncertain significance Single submitter
- COX15 p.Val162Leu Uncertain significance Single submitter
-
COX15 p.Val232Phe
Uncertain significance
Single submitter
cardiomyopathy
-
COX15 p.Val281Met
Uncertain significance
Single submitter
Leigh syndrome
- COX15 p.Ser212Phe Uncertain significance No assertion criteria
Predictors split 26
The independent predictors disagree with each other — read with care.
-
COX15 p.Arg183Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COX15 p.Arg183His
Benign/Likely benign
Multiple submitters
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
-
COX15 p.Arg67Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- COX15 p.Gly174Ser Uncertain significance Multiple submitters
- COX15 p.Leu273Phe Uncertain significance Multiple submitters
-
COX15 p.Leu305Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
- COX15 p.Pro110Leu Uncertain significance Multiple submitters
-
COX15 p.Ser309Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COX15 p.Tyr169Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- COX15 p.Tyr341His Uncertain significance Multiple submitters
-
COX15 p.Val159Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- COX15 p.Ala385Thr Uncertain significance Single submitter
-
COX15 p.Arg178Cys
Conflicting
Single submitter
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
- COX15 p.Arg262Gln Likely benign Single submitter
-
COX15 p.Arg345Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
COX15 p.Arg345Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- COX15 p.Arg406Gln Uncertain significance Single submitter
- COX15 p.Arg67Pro Uncertain significance Single submitter
-
COX15 p.Asp101His
Uncertain significance
Single submitter
Inborn genetic diseases
- COX15 p.Leu18Met Uncertain significance Single submitter
- COX15 p.Lys173Glu Uncertain significance Single submitter
- COX15 p.Met148Leu Uncertain significance Single submitter
- COX15 p.Met180Lys Uncertain significance Single submitter
- COX15 p.Pro247Leu Uncertain significance Single submitter
- COX15 p.Val100Ile Uncertain significance Single submitter
-
COX15 p.Val289Ala
Uncertain significance
Single submitter
Inborn genetic diseases
All COX15 variants
Pathogenic 15
- p.Arg217Trp Multiple submitters COX15-related disorder
- p.Glu94fs Multiple submitters
- p.Arg157fs Single submitter
- p.Arg262Ter Single submitter
- p.Cys188fs Single submitter
- p.Gln2Ter Single submitter
- p.Leu187fs Single submitter
- p.Ser204fs Single submitter
- p.Thr140fs Single submitter
- p.Thr274fs Single submitter
- p.Tyr124Ter Single submitter
- p.Tyr169Ter Single submitter
- p.Tyr221Ter Single submitter
- p.Val100fs Single submitter
- p.Val89fs Single submitter
Pathogenic/Likely pathogenic 8
- c.272+2T>G Multiple submitters
- p.Arg153Ter Multiple submitters cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
- p.Ser151Ter Multiple submitters Leigh syndrome
- p.Ser229Ter Multiple submitters cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
- p.Ser277Ter Multiple submitters
- p.Trp102Ter Multiple submitters Leigh syndrome
- p.Trp199Ter Multiple submitters cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
- p.Trp239Ter Multiple submitters cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
Likely pathogenic 16
- c.750+1G>A Multiple submitters cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
- c.750+1G>T Multiple submitters cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
- c.207_272+655del Single submitter
- c.583-2A>G Single submitter
- c.751-2A>T Single submitter cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
- c.79_90+3delinsGACT Single submitter Leigh syndrome
- c.90+1G>C Single submitter
- c.987+1G>A Single submitter
- c.987+1G>C Single submitter
- c.987+1G>T Single submitter
- p.Ala279fs Single submitter cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
- p.Glu107Ter Single submitter cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
- p.Gly70Asp Single submitter cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
- p.Phe280Ser Single submitter cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
- p.Pro252fs Single submitter cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
- p.Ser113fs Single submitter
Conflicting classifications of pathogenicity 30
- c.396-3C>G Single submitter COX15-related disorder
- c.582+14A>G Single submitter Leigh syndrome
- c.832+9C>T Single submitter Leigh syndrome
- c.833-11T>G Single submitter
- c.90+1G>A Single submitter
- c.91-1G>C Single submitter cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
- c.988-2A>T Single submitter
- c.988-8C>A Single submitter Leigh syndrome
- c.-23G>T Single submitter Leigh syndrome
- c.*3817A>G Single submitter Leigh syndrome
- p.Ala25Ser Single submitter Inborn genetic diseases ⚠
- p.Arg157Cys Single submitter Inborn genetic diseases ⚠
- p.Arg178Cys Single submitter cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 ⚠
- p.Arg222Cys Single submitter Leigh syndrome ⚠
- p.Arg28Thr Single submitter Inborn genetic diseases ⚠
- p.Arg36Cys Single submitter Inborn genetic diseases ⚠
- p.Arg36His Single submitter ⚠
- p.Arg55Lys Single submitter Inborn genetic diseases ⚠
- p.Arg71Ter Single submitter cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
- p.Gly96Val Single submitter cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 ⚠
- p.Ile311Met Single submitter Inborn genetic diseases ⚠
- p.Ile347fs Single submitter cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
- p.Ile347Thr Single submitter
- p.Ile85= Single submitter Leigh syndrome
- p.Leu343= Single submitter Leigh syndrome
- p.Pro310Arg Single submitter cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 ⚠
- p.Ser344Pro Single submitter cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 ⚠
- p.Tyr17Cys Single submitter Inborn genetic diseases ⚠
- p.Val334Phe Single submitter Inborn genetic diseases ⚠
- p.Val339Met Single submitter Inborn genetic diseases ⚠
Benign 22
- c.1102-24A>G Multiple submitters
- c.395+97G>A Multiple submitters
- c.832+194A>C Multiple submitters
- c.-435C>T Multiple submitters Leigh syndrome
- c.-597A>C Multiple submitters Leigh syndrome
- c.*1126T>C Multiple submitters Leigh syndrome
- c.*2649G>A Multiple submitters Leigh syndrome
- c.*3268A>C Multiple submitters Leigh syndrome
- c.*3417T>C Multiple submitters Leigh syndrome
- c.*809G>A Multiple submitters
- p.Asn403= Multiple submitters cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
- c.272+90_272+93del Single submitter
- c.272+91_272+93del Single submitter
- c.272+93del Single submitter
- c.582+62dup Single submitter
- c.832+138_832+139dup Single submitter
- c.832+193_832+194insC Single submitter
- c.832+194_832+195insC Single submitter
- c.91-249A>T Single submitter
- c.987+101dup Single submitter
- c.*3566C>T Single submitter Leigh syndrome
- c.*615dup Single submitter
Benign/Likely benign 7
- c.395+20_395+26del Multiple submitters
- c.395+9del Multiple submitters
- c.396-11A>G Multiple submitters
- c.751-17dup Multiple submitters
- c.90+16G>A Multiple submitters
- p.Arg183His Multiple submitters cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 ⚠
- p.Phe342= Multiple submitters
Likely benign 199
- c.272+13C>T Multiple submitters
- c.583-11G>C Multiple submitters
- c.750+8T>C Multiple submitters
- c.750+96G>C Multiple submitters
- c.751-103G>A Multiple submitters
- c.751-18del Multiple submitters
- c.832+15A>G Multiple submitters
- c.90+19C>T Multiple submitters
- c.90+27C>A Multiple submitters
- c.90+8A>T Multiple submitters
- c.91-14A>G Multiple submitters
- c.91-18G>A Multiple submitters
- c.*1093A>G Multiple submitters
- c.*1197T>C Multiple submitters Leigh syndrome
- c.*2640T>G Multiple submitters Leigh syndrome
- c.*316A>G Multiple submitters
- p.Gln122= Multiple submitters
- p.His265= Multiple submitters
- p.Leu206= Multiple submitters
- p.Leu238= Multiple submitters
- p.Leu284= Multiple submitters
- p.Leu5= Multiple submitters
- p.Leu74= Multiple submitters
- p.Phe306= Multiple submitters
- p.Pro248= Multiple submitters
- p.Pro302= Multiple submitters
- p.Ser204= Multiple submitters
- p.Thr374= Multiple submitters
- p.Thr45= Multiple submitters
- p.Thr57= Multiple submitters
- p.Tyr200= Multiple submitters
- p.Val232= Multiple submitters
- c.1101+10A>T Single submitter
- c.1101+13T>G Single submitter
- c.1101+15T>C Single submitter
- c.272+11T>C Single submitter
- c.272+14_272+15dup Single submitter
- c.272+15C>T Single submitter
- c.272+16G>A Single submitter
- c.272+20T>G Single submitter
- c.272+74dup Single submitter
- c.273-12T>C Single submitter
- c.273-15C>A Single submitter
- c.273-20A>C Single submitter
- c.273-5C>T Single submitter
- c.395+11G>A Single submitter
- c.395+16A>T Single submitter
- c.395+17A>G Single submitter
- c.395+19T>G Single submitter
- c.396-20T>G Single submitter
- c.396-7C>T Single submitter
- c.582+11T>C Single submitter
- c.582+15A>G Single submitter
- c.582+16G>A Single submitter
- c.582+19T>G Single submitter
- c.582+20G>A Single submitter
- c.582+62_582+63dup Single submitter
- c.583-13T>C Single submitter
- c.583-14C>G Single submitter
- c.583-23_583-19del Single submitter
- c.583-78dup Single submitter
- c.583-9G>C Single submitter
- c.750+12G>A Single submitter
- c.750+17A>G Single submitter
- c.751-10del Single submitter
- c.751-19G>A Single submitter
- c.751-20T>C Single submitter
- c.751-8A>G Single submitter
- c.832+12C>T Single submitter
- c.832+13T>C Single submitter
- c.832+14C>T Single submitter
- c.832+17C>G Single submitter
- c.832+18A>G Single submitter
- c.832+19A>G Single submitter
- c.832+19A>T Single submitter
- c.832+7C>G Single submitter
- c.833-12C>T Single submitter
- c.833-18A>G Single submitter
- c.833-8G>A Single submitter
- c.90+11G>A Single submitter
- c.90+13A>G Single submitter
- c.90+159C>T Single submitter
- c.90+15C>T Single submitter
- c.90+16G>T Single submitter
- c.90+19_90+24del Single submitter
- c.90+20T>C Single submitter
- c.90+5C>G Single submitter
- c.987+14G>A Single submitter
- c.987+14G>T Single submitter
- c.987+17G>A Single submitter
- c.987+18T>C Single submitter
- c.987+247C>G Single submitter
- c.987+3A>G Single submitter
- c.987+7G>A Single submitter
- c.988-10T>G Single submitter
- c.988-12T>G Single submitter
- c.988-136G>A Single submitter
- c.988-14T>C Single submitter
- c.988-15_988-14del Single submitter
- c.988-16T>C Single submitter
- c.988-18A>T Single submitter
- c.988-323_988-318del Single submitter
- c.*1092dup Single submitter
- c.*1093A>C Single submitter
- c.*1094T>C Single submitter
- c.*1096G>A Single submitter
- c.*1099A>G Single submitter
- c.*1104A>G Single submitter
- c.*1131T>C Single submitter
- c.*1167C>T Single submitter
- c.*1693G>A Single submitter Leigh syndrome
- c.*1876A>G Single submitter Leigh syndrome
- c.*246G>T Single submitter
- c.*3661T>C Single submitter Leigh syndrome
- c.*4218C>T Single submitter Leigh syndrome
- c.*4473T>C Single submitter Leigh syndrome
- c.*471del Single submitter
- c.*615del Single submitter
- p.Ala11= Single submitter
- p.Ala230= Single submitter
- p.Ala26= Single submitter
- p.Ala29= Single submitter
- p.Ala356= Single submitter
- p.Ala364= Single submitter
- p.Arg10= Single submitter
- p.Arg172= Single submitter
- p.Arg262Gln Single submitter ⚠
- p.Arg3= Single submitter
- p.Arg352= Single submitter
- p.Arg39= Single submitter
- p.Asp101= Single submitter
- p.Asp211= Single submitter
- p.Cys33= Single submitter
- p.Gln256= Single submitter
- p.Gln52= Single submitter
- p.Gln52Arg Single submitter
- p.Glu115= Single submitter
- p.Glu149= Single submitter
- p.Glu317= Single submitter
- p.Glu94= Single submitter
- p.Gly14= Single submitter
- p.Gly179= Single submitter
- p.Gly195= Single submitter
- p.Gly54= Single submitter
- p.His152= Single submitter
- p.His226= Single submitter
- p.His249= Single submitter
- p.Leu104= Single submitter
- p.Leu12= Single submitter
- p.Leu139= Single submitter
- p.Leu161= Single submitter
- p.Leu165= Single submitter
- p.Leu176= Single submitter
- p.Leu18= Single submitter
- p.Leu187= Single submitter
- p.Leu190= Single submitter
- p.Leu197= Single submitter
- p.Leu20= Single submitter
- p.Leu21= Single submitter
- p.Leu227= Single submitter
- p.Leu231= Single submitter
- p.Leu244= Single submitter
- p.Leu245= Single submitter
- p.Leu246= Single submitter
- p.Leu273= Single submitter
- p.Leu360= Single submitter
- p.Leu4= Single submitter
- p.Leu92= Single submitter
- p.Lys181= Single submitter
- p.Lys63= Single submitter
- p.Phe127= Single submitter
- p.Pro166= Single submitter
- p.Pro252= Single submitter
- p.Pro294= Single submitter
- p.Pro310= Single submitter
- p.Ser177= Single submitter
- p.Ser212= Single submitter
- p.Ser299= Single submitter
- p.Ser53= Single submitter
- p.Ser62= Single submitter
- p.Ser77= Single submitter
- p.Ser98= Single submitter
- p.Thr254= Single submitter
- p.Thr274= Single submitter
- p.Thr320= Single submitter
- p.Thr335= Single submitter
- p.Thr353= Single submitter
- p.Thr90= Single submitter
- p.Tyr124= Single submitter
- p.Tyr17= Single submitter
- p.Val162= Single submitter
- p.Val271= Single submitter
- p.Val322= Single submitter
- p.Val339= Single submitter
- p.Val358= Single submitter
- p.Val49= Single submitter
- p.Val69= Single submitter
- p.Val75= Single submitter
- p.Leu38= No assertion criteria COX15-related disorder
Uncertain significance 204
- c.-406C>G Multiple submitters Leigh syndrome
- c.-84G>A Multiple submitters Leigh syndrome
- c.*1122C>G Multiple submitters Leigh syndrome
- c.*1159A>G Multiple submitters
- c.*1166A>G Multiple submitters
- p.Ala364Val Multiple submitters Leigh syndrome ⚠
- p.Arg153Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg183Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg222His Multiple submitters Leigh syndrome ⚠
- p.Arg327Trp Multiple submitters ⚠
- p.Arg345Gln Multiple submitters ⚠
- p.Arg67Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg67Trp Multiple submitters Inborn genetic diseases ⚠
- p.Asp136His Multiple submitters Leigh syndrome ⚠
- p.Gln2Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu94Ala Multiple submitters ⚠
- p.Gly174Ser Multiple submitters ⚠
- p.Gly179Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly182Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly41Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly54Glu Multiple submitters Inborn genetic diseases ⚠
- p.Leu20His Multiple submitters Inborn genetic diseases ⚠
- p.Leu227Val Multiple submitters cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 ⚠
- p.Leu273Phe Multiple submitters ⚠
- p.Leu305Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu349Pro Multiple submitters Inborn genetic diseases ⚠
- p.Pro110Leu Multiple submitters ⚠
- p.Pro19Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro310Ala Multiple submitters Inborn genetic diseases ⚠
- p.Ser309Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser44Asn Multiple submitters Leigh syndrome ⚠
- p.Ser95Cys Multiple submitters Inborn genetic diseases ⚠
- p.Trp239Cys Multiple submitters Leigh syndrome ⚠
- p.Tyr169Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr341His Multiple submitters ⚠
- p.Val159Leu Multiple submitters Inborn genetic diseases ⚠
- c.1101+1G>C Single submitter
- c.1101+3A>G Single submitter cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
- c.582+5G>T Single submitter
- c.832+3A>G Single submitter
- c.833-10T>G Single submitter
- c.90+4C>G Single submitter
- c.91-3T>C Single submitter Inborn genetic diseases
- c.988-3C>T Single submitter Leigh syndrome
- c.-114A>G Single submitter Leigh syndrome
- c.-133T>C Single submitter Leigh syndrome
- c.-142A>C Single submitter Leigh syndrome
- c.-149G>T Single submitter Leigh syndrome
- c.-232C>T Single submitter Leigh syndrome
- c.-250G>C Single submitter Leigh syndrome
- c.-265T>G Single submitter Leigh syndrome
- c.-26A>G Single submitter Leigh syndrome
- c.-307C>G Single submitter Leigh syndrome ⚠
- c.-338C>T Single submitter Leigh syndrome
- c.-472T>C Single submitter Leigh syndrome
- c.-586C>T Single submitter Leigh syndrome
- c.-590G>A Single submitter Leigh syndrome
- c.-602C>A Single submitter Leigh syndrome
- c.-71T>C Single submitter Leigh syndrome
- c.*1096G>T Single submitter
- c.*1109del Single submitter
- c.*1120T>C Single submitter
- c.*1133T>A Single submitter
- c.*1156G>A Single submitter
- c.*1159A>C Single submitter
- c.*1166A>T Single submitter
- c.*1242A>G Single submitter Leigh syndrome
- c.*1309T>C Single submitter Leigh syndrome
- c.*1349A>C Single submitter Leigh syndrome
- c.*1361C>T Single submitter Leigh syndrome
- c.*1362G>A Single submitter Leigh syndrome
- c.*1474C>T Single submitter Leigh syndrome
- c.*1590A>C Single submitter Leigh syndrome
- c.*1591C>T Single submitter Leigh syndrome
- c.*1594C>G Single submitter Leigh syndrome
- c.*1716G>A Single submitter Leigh syndrome
- c.*1776T>A Single submitter Leigh syndrome
- c.*1793G>A Single submitter Leigh syndrome
- c.*1850G>T Single submitter Leigh syndrome
- c.*1851G>T Single submitter Leigh syndrome
- c.*1957A>C Single submitter Leigh syndrome
- c.*2060C>T Single submitter Leigh syndrome
- c.*2167A>G Single submitter Leigh syndrome
- c.*2193A>T Single submitter Leigh syndrome
- c.*2282G>A Single submitter Leigh syndrome
- c.*2301G>A Single submitter Leigh syndrome
- c.*2301G>C Single submitter Leigh syndrome
- c.*2459G>T Single submitter Leigh syndrome
- c.*2490T>C Single submitter Leigh syndrome
- c.*2594T>G Single submitter Leigh syndrome
- c.*2595C>T Single submitter Leigh syndrome
- c.*2620C>T Single submitter Leigh syndrome
- c.*2668C>G Single submitter Leigh syndrome
- c.*2701A>G Single submitter Leigh syndrome
- c.*2701C>T Single submitter Leigh syndrome
- c.*2742A>G Single submitter Leigh syndrome
- c.*2745T>G Single submitter Leigh syndrome
- c.*2839G>T Single submitter Leigh syndrome
- c.*2841G>A Single submitter Leigh syndrome
- c.*2842T>C Single submitter Leigh syndrome
- c.*2850A>G Single submitter Leigh syndrome
- c.*2857A>G Single submitter Leigh syndrome
- c.*2898A>G Single submitter Leigh syndrome
- c.*2959G>C Single submitter Leigh syndrome
- c.*3086G>T Single submitter Leigh syndrome
- c.*3210C>T Single submitter Leigh syndrome
- c.*3211G>A Single submitter Leigh syndrome
- c.*3247T>C Single submitter Leigh syndrome
- c.*3330A>G Single submitter Leigh syndrome
- c.*3362T>C Single submitter Leigh syndrome
- c.*3411G>C Single submitter Leigh syndrome
- c.*3470G>C Single submitter Leigh syndrome
- c.*3564C>T Single submitter Leigh syndrome
- c.*3618A>G Single submitter Leigh syndrome
- c.*3638C>T Single submitter Leigh syndrome
- c.*3652A>G Single submitter Leigh syndrome
- c.*3670G>A Single submitter Leigh syndrome
- c.*3729C>G Single submitter Leigh syndrome
- c.*3755G>A Single submitter Leigh syndrome
- c.*3800C>A Single submitter Leigh syndrome
- c.*4110T>G Single submitter Leigh syndrome
- c.*4152C>T Single submitter Leigh syndrome
- c.*4181C>A Single submitter Leigh syndrome
- c.*4212G>A Single submitter Leigh syndrome
- c.*4392G>A Single submitter Leigh syndrome
- c.*4435A>G Single submitter Leigh syndrome
- c.*4441G>C Single submitter Leigh syndrome
- p.Ala224Thr Single submitter ⚠
- p.Ala25Thr Single submitter ⚠
- p.Ala286Val Single submitter ⚠
- p.Ala385Thr Single submitter ⚠
- p.Arg172Lys Single submitter ⚠
- p.Arg217Gln Single submitter ⚠
- p.Arg327Gln Single submitter ⚠
- p.Arg345Gly Single submitter Inborn genetic diseases ⚠
- p.Arg345Trp Single submitter Inborn genetic diseases ⚠
- p.Arg351Gly Single submitter ⚠
- p.Arg406Gln Single submitter ⚠
- p.Arg406Ter Single submitter
- p.Arg55Gly Single submitter ⚠
- p.Arg67Pro Single submitter ⚠
- p.Arg71Gln Single submitter Inborn genetic diseases ⚠
- p.Asp101His Single submitter Inborn genetic diseases ⚠
- p.Asp214Asn Single submitter ⚠
- p.Cys235Tyr Single submitter ⚠
- p.Gln16Arg Single submitter ⚠
- p.Gln259Pro Single submitter ⚠
- p.Gln323His Single submitter ⚠
- p.Glu149Lys Single submitter Inborn genetic diseases ⚠
- p.Gly14Ala Single submitter ⚠
- p.Gly160= Single submitter
- p.Gly278Arg Single submitter ⚠
- p.Gly297Glu Single submitter Inborn genetic diseases ⚠
- p.Gly41Trp Single submitter ⚠
- p.Gly78Ala Single submitter Inborn genetic diseases ⚠
- p.Gly78Arg Single submitter ⚠
- p.His213Asp Single submitter ⚠
- p.His265Arg Single submitter ⚠
- p.Ile164Leu Single submitter ⚠
- p.Ile164Val Single submitter Leigh syndrome ⚠
- p.Ile331fs Single submitter
- p.Leu12Phe Single submitter ⚠
- p.Leu158= Single submitter
- p.Leu185Val Single submitter ⚠
- p.Leu18Arg Single submitter ⚠
- p.Leu18Met Single submitter ⚠
- p.Leu223His Single submitter Inborn genetic diseases ⚠
- p.Leu329= Single submitter
- p.Leu340Pro Single submitter cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 ⚠
- p.Leu343Arg Single submitter ⚠
- p.Leu73Pro Single submitter Inborn genetic diseases ⚠
- p.Leu9Phe Single submitter ⚠
- p.Leu9Ser Single submitter ⚠
- p.Lys143Thr Single submitter ⚠
- p.Lys173Arg Single submitter ⚠
- p.Lys173Glu Single submitter ⚠
- p.Lys209Arg Single submitter ⚠
- p.Met148Leu Single submitter ⚠
- p.Met180Lys Single submitter ⚠
- p.Phe121Ser Single submitter ⚠
- p.Phe142Leu Single submitter ⚠
- p.Phe144Leu Single submitter ⚠
- p.Pro111Arg Single submitter ⚠
- p.Pro216Ser Single submitter Inborn genetic diseases ⚠
- p.Pro247Leu Single submitter ⚠
- p.Pro248Ala Single submitter Inborn genetic diseases ⚠
- p.Pro248Leu Single submitter ⚠
- p.Pro37Leu Single submitter ⚠
- p.Ser344Tyr Single submitter ⚠
- p.Ser59Cys Single submitter ⚠
- p.Ser98Leu Single submitter Leigh syndrome ⚠
- p.Thr112Ile Single submitter ⚠
- p.Thr274Met Single submitter ⚠
- p.Thr79Arg Single submitter ⚠
- p.Trp102Cys Single submitter Inborn genetic diseases ⚠
- p.Trp171Cys Single submitter ⚠
- p.Trp400Cys Single submitter ⚠
- p.Tyr378Ter Single submitter
- p.Val100Ile Single submitter ⚠
- p.Val162Leu Single submitter ⚠
- p.Val232Phe Single submitter cardiomyopathy ⚠
- p.Val281Met Single submitter Leigh syndrome ⚠
- p.Val289Ala Single submitter Inborn genetic diseases ⚠
- p.Ser212Phe No assertion criteria ⚠