OPA3 — 571 ClinVar variants
All ClinVar germline OPA3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 146 flagged for review →
9 Pathogenic · 2 Pathogenic/Likely pathogenic · 22 Likely pathogenic · 58 Conflicting · 34 Benign · 17 Benign/Likely benign · 127 Likely benign · 302 Uncertain significance
Full OPA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 146
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 vs ClinVar 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
OPA3 p.Gln105Glu
Pathogenic
Multiple submitters
OPA3-related disorder
-
OPA3 p.Gly93Ser
Pathogenic
No assertion criteria
optic atrophy 3
Predictors agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
OPA3 p.Ala170Thr
Conflicting
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Gly85Asp
Conflicting
Single submitter
optic atrophy 3
-
OPA3 p.Lys178Glu
Conflicting
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Lys69Thr
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 107
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
OPA3 p.Ala121Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- OPA3 p.Ala130Val Uncertain significance Multiple submitters
-
OPA3 p.Ala132Val
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 3
-
OPA3 p.Ala142Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPA3 p.Ala142Val
Uncertain significance
Multiple submitters
optic atrophy 3
-
OPA3 p.Ala143Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPA3 p.Ala148Ser
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 3
-
OPA3 p.Ala176Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPA3 p.Ala81Thr
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 3
-
OPA3 p.Arg123Trp
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 3
-
OPA3 p.Arg168Gln
Uncertain significance
Multiple submitters
optic atrophy 3
-
OPA3 p.Arg64Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPA3 p.Asn165Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPA3 p.Asp124Glu
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 3
-
OPA3 p.Gln139Arg
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 3
-
OPA3 p.Gln141His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPA3 p.Gln146Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPA3 p.Glu113Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPA3 p.Glu29Asp
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 3
-
OPA3 p.Glu86Lys
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 3
-
OPA3 p.Gly167Arg
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 3
-
OPA3 p.Gly80Ser
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 3
-
OPA3 p.Ile41Val
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 3
-
OPA3 p.Ile89Val
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 3
-
OPA3 p.Lys57Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPA3 p.Met8Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPA3 p.Pro144Arg
Uncertain significance
Multiple submitters
optic atrophy 3
-
OPA3 p.Pro145Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPA3 p.Thr39Ala
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 3
-
OPA3 p.Ala106Thr
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Ala106Val
Uncertain significance
Single submitter
optic atrophy 3
-
OPA3 p.Ala132Glu
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Ala135Gly
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
- OPA3 p.Ala135Thr Uncertain significance Single submitter
-
OPA3 p.Ala143Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
OPA3 p.Ala143Val
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Ala148Pro
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Ala148Val
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Ala173Thr
Uncertain significance
Single submitter
optic atrophy 3
-
OPA3 p.Ala31Pro
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Ala46Thr
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
- OPA3 p.Arg103Cys Uncertain significance Single submitter
-
OPA3 p.Arg153Leu
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Arg168Trp
Uncertain significance
Single submitter
optic atrophy 3
-
OPA3 p.Arg32Cys
Uncertain significance
Single submitter
optic atrophy 3
-
OPA3 p.Arg55Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
OPA3 p.Arg59Pro
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Asn120Lys
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Asn165His
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
- OPA3 p.Gln105Arg Uncertain significance Single submitter
-
OPA3 p.Gln105Lys
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Gln107Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
OPA3 p.Gln108Arg
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
- OPA3 p.Gln108Glu Uncertain significance Single submitter
- OPA3 p.Gln137His Uncertain significance Single submitter
- OPA3 p.Gln137Leu Uncertain significance Single submitter
-
OPA3 p.Gln139His
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Gln146Lys
Uncertain significance
Single submitter
optic atrophy 3
-
OPA3 p.Gln157Glu
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Gln162Glu
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Glu125Gln
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Glu125Val
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Glu150Gln
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
- OPA3 p.Glu151Asp Uncertain significance Single submitter
-
OPA3 p.Glu158Lys
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Glu74Lys
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Gly127Asp
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Gly167Cys
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Gly65Ala
Uncertain significance
Single submitter
optic atrophy 3
-
OPA3 p.Gly65Ser
Uncertain significance
Single submitter
optic atrophy 3
-
OPA3 p.Gly80Val
Uncertain significance
Single submitter
optic atrophy 3
-
OPA3 p.Gly85Arg
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Gly94Ser
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
- OPA3 p.His104Pro Uncertain significance Single submitter
-
OPA3 p.His172Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
OPA3 p.Ile41Ser
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Ile91Met
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
- OPA3 p.Ile91Phe Uncertain significance Single submitter
-
OPA3 p.Leu131Gln
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Leu14Val
Uncertain significance
Single submitter
optic atrophy 3
-
OPA3 p.Leu152Pro
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Leu43Val
Uncertain significance
Single submitter
optic atrophy 3
-
OPA3 p.Leu71Pro
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Leu84Pro
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Leu97Val
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Leu99Arg
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
- OPA3 p.Leu99Pro Uncertain significance Single submitter
-
OPA3 p.Lys10Asn
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Met61Thr
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Pro144Gln
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Pro145Leu
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Pro44Leu
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Pro45Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
OPA3 p.Pro45Ser
Uncertain significance
Single submitter
optic atrophy 3
-
OPA3 p.Thr66Met
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
- OPA3 p.Thr88Ala Uncertain significance Single submitter
-
OPA3 p.Thr88Ile
Uncertain significance
Single submitter
optic atrophy 3
-
OPA3 p.Trp102Gly
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Tyr40Cys
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Tyr49His
Uncertain significance
Single submitter
optic atrophy 3
-
OPA3 p.Val67Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
OPA3 p.Val67Phe
Uncertain significance
Single submitter
OPA3-related disorder
-
OPA3 p.Ala138Val
Uncertain significance
No assertion criteria
3-methylglutaconic aciduria type 3
-
OPA3 p.Arg103Gly
Uncertain significance
No assertion criteria
3-methylglutaconic aciduria type 3
-
OPA3 p.Glu100Lys
Uncertain significance
No assertion criteria
3-methylglutaconic aciduria type 3
-
OPA3 p.Leu133Pro
Uncertain significance
No assertion criteria
3-methylglutaconic aciduria type 3
-
OPA3 p.Val159Met
Uncertain significance
No assertion criteria
3-methylglutaconic aciduria type 3
Predictors split 33
The independent predictors disagree with each other — read with care.
-
OPA3 p.Ala142Pro
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 3
-
OPA3 p.Ala75Val
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 3
-
OPA3 p.Arg160Pro
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 3
-
OPA3 p.Arg32Ser
Uncertain significance
Multiple submitters
optic atrophy 3
-
OPA3 p.Gln137Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPA3 p.Glu125Lys
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 3
-
OPA3 p.Val3Leu
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 3
-
OPA3 p.Val98Gly
Uncertain significance
Multiple submitters
optic atrophy 3
- OPA3 p.Ala106Pro Uncertain significance Single submitter
-
OPA3 p.Ala5Thr
Uncertain significance
Single submitter
optic atrophy 3
-
OPA3 p.Ala76Ser
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Arg103His
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Arg160Cys
Conflicting
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Arg26Leu
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Arg55Gln
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Asn72Asp
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Gln47Arg
Likely pathogenic
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Glu78Lys
Conflicting
Single submitter
Inborn genetic diseases
-
OPA3 p.Gly65Val
Uncertain significance
Single submitter
optic atrophy 3
-
OPA3 p.Gly95Cys
Uncertain significance
Single submitter
optic atrophy 3
- OPA3 p.His110Pro Uncertain significance Single submitter
-
OPA3 p.Ile41Met
Conflicting
Single submitter
OPA3-related disorder
-
OPA3 p.Leu129Gln
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Leu163Phe
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Leu79Val
Likely pathogenic
Single submitter
optic atrophy 3
-
OPA3 p.Lys10Arg
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Phe37Leu
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Thr154Pro
Uncertain significance
Single submitter
optic atrophy 3
-
OPA3 p.Tyr101His
Uncertain significance
Single submitter
optic atrophy 3
- OPA3 p.Val126Gly Uncertain significance Single submitter
-
OPA3 p.Val92Ala
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Val92Met
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 3
-
OPA3 p.Leu133Arg
Uncertain significance
No assertion criteria
OPA3-related disorder
All OPA3 variants
Pathogenic 9
- c.143-1G>A Multiple submitters 3-methylglutaconic aciduria type 3
- c.143-1G>C Multiple submitters 3-methylglutaconic aciduria type 3
- p.Gln105Glu Multiple submitters OPA3-related disorder ⚠
- c.143-2_143-1delinsCC Single submitter 3-methylglutaconic aciduria type 3
- p.Glu35Ter Single submitter 3-methylglutaconic aciduria type 3
- p.Val19fs Single submitter 3-methylglutaconic aciduria type 3
- p.Gln108_Glu113del No assertion criteria 3-methylglutaconic aciduria type 3
- p.Gly93Ser No assertion criteria optic atrophy 3 ⚠
- p.Leu11Gln No assertion criteria 3-methylglutaconic aciduria type 3
Pathogenic/Likely pathogenic 2
- p.Gln18Ter Multiple submitters 3-methylglutaconic aciduria type 3
- p.Gln139Ter No assertion criteria 3-methylglutaconic aciduria type 3
Likely pathogenic 22
- c.142+1G>A Multiple submitters OPA3-related disorder
- p.Gly65fs Multiple submitters 3-methylglutaconic aciduria type 3
- p.Met1Val Multiple submitters optic atrophy 3
- c.142+2_142+3dup Single submitter 3-methylglutaconic aciduria type 3
- p.Ala5fs Single submitter 3-methylglutaconic aciduria type 3
- p.Ala77fs Single submitter 3-methylglutaconic aciduria type 3
- p.Arg103fs Single submitter optic atrophy 3
- p.Arg153fs Single submitter 3-methylglutaconic aciduria type 3
- p.Arg33Ter Single submitter 3-methylglutaconic aciduria type 3
- p.Cys96fs Single submitter 3-methylglutaconic aciduria type 3
- p.Gln107fs Single submitter 3-methylglutaconic aciduria type 3
- p.Gln137fs Single submitter 3-methylglutaconic aciduria type 3
- p.Gln47Arg Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Glu158fs Single submitter 3-methylglutaconic aciduria type 3
- p.Glu73Ter Single submitter 3-methylglutaconic aciduria type 3
- p.Gly85fs Single submitter 3-methylglutaconic aciduria type 3
- p.Ile27_Lys28insTer Single submitter 3-methylglutaconic aciduria type 3
- p.Leu79Val Single submitter optic atrophy 3 ⚠
- p.Trp51Ter Single submitter 3-methylglutaconic aciduria type 3
- p.Lys21Ter No assertion criteria 3-methylglutaconic aciduria type 3
- p.Ser34fs No assertion criteria 3-methylglutaconic aciduria type 3
- p.Ter180Trp No assertion criteria 3-methylglutaconic aciduria type 3
Conflicting classifications of pathogenicity 58
- c.142+5G>C Single submitter 3-methylglutaconic aciduria type 3
- c.143-13T>G Single submitter optic atrophy 3
- c.-113T>C Single submitter 3-methylglutaconic aciduria type 3
- c.*1052C>T Single submitter optic atrophy 3
- c.*1095C>A Single submitter 3-methylglutaconic aciduria type 3
- c.*1238G>A Single submitter 3-methylglutaconic aciduria type 3
- c.*1642A>G Single submitter 3-methylglutaconic aciduria type 3
- c.*1761A>T Single submitter 3-methylglutaconic aciduria type 3
- c.*1836C>T Single submitter optic atrophy 3
- c.*2008C>T Single submitter 3-methylglutaconic aciduria type 3
- c.*2101A>T Single submitter optic atrophy 3
- c.*2518A>G Single submitter 3-methylglutaconic aciduria type 3
- c.*3117C>T Single submitter 3-methylglutaconic aciduria type 3
- c.*3128C>G Single submitter 3-methylglutaconic aciduria type 3
- c.*3360G>A Single submitter optic atrophy 3
- c.*3442A>G Single submitter optic atrophy 3
- c.*3884G>A Single submitter 3-methylglutaconic aciduria type 3
- c.*398G>T Single submitter 3-methylglutaconic aciduria type 3
- c.*422C>T Single submitter 3-methylglutaconic aciduria type 3
- c.*4439C>T Single submitter optic atrophy 3
- c.*4949G>A Single submitter optic atrophy 3
- c.*4954C>T Single submitter optic atrophy 3
- c.*5277G>A Single submitter optic atrophy 3
- c.*540G>T Single submitter optic atrophy 3
- c.*5565C>T Single submitter optic atrophy 3
- c.*5783G>A Single submitter optic atrophy 3
- c.*5923G>A Single submitter optic atrophy 3
- c.*5944G>A Single submitter 3-methylglutaconic aciduria type 3
- c.*6101A>G Single submitter 3-methylglutaconic aciduria type 3
- c.*6208C>T Single submitter optic atrophy 3
- c.*6289A>G Single submitter 3-methylglutaconic aciduria type 3
- c.*6442A>G Single submitter 3-methylglutaconic aciduria type 3
- c.*6554G>A Single submitter optic atrophy 3
- c.*6626G>A Single submitter 3-methylglutaconic aciduria type 3
- c.*6688G>A Single submitter 3-methylglutaconic aciduria type 3
- c.*6767G>A Single submitter 3-methylglutaconic aciduria type 3
- c.*698G>A Single submitter 3-methylglutaconic aciduria type 3
- c.*7018G>C Single submitter optic atrophy 3
- c.*7181G>A Single submitter optic atrophy 3
- c.*80G>T Single submitter optic atrophy 3
- p.Ala170Thr Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Arg160Cys Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Gln105Ter Single submitter 3-methylglutaconic aciduria type 3
- p.Gln162Ter Single submitter 3-methylglutaconic aciduria type 3
- p.Glu73fs Single submitter 3-methylglutaconic aciduria type 3
- p.Glu78Lys Single submitter Inborn genetic diseases ⚠
- p.Glu82Ter Single submitter 3-methylglutaconic aciduria type 3
- p.Glu86Asp Single submitter Inborn genetic diseases
- p.Gly147fs Single submitter 3-methylglutaconic aciduria type 3
- p.Gly62Ser Single submitter optic atrophy 3
- p.Gly85Asp Single submitter optic atrophy 3 ⚠
- p.Ile41Met Single submitter OPA3-related disorder ⚠
- p.Leu11= Single submitter 3-methylglutaconic aciduria type 3
- p.Leu152= Single submitter
- p.Lys178Glu Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Lys69Thr Single submitter Inborn genetic diseases ⚠
- p.Ter180Tyr Single submitter 3-methylglutaconic aciduria type 3
- p.Trp102Arg Single submitter optic atrophy 3
Benign 34
- c.142+69G>C Multiple submitters 3-methylglutaconic aciduria type 3
- c.143-127C>G Multiple submitters
- c.-86G>A Multiple submitters 3-methylglutaconic aciduria type 3
- c.*1387C>T Multiple submitters 3-methylglutaconic aciduria type 3
- c.*152G>A Multiple submitters optic atrophy 3
- c.*190A>G Multiple submitters
- c.*1950G>A Multiple submitters 3-methylglutaconic aciduria type 3
- c.*2485G>A Multiple submitters 3-methylglutaconic aciduria type 3
- c.*272G>A Multiple submitters 3-methylglutaconic aciduria type 3
- c.*3038G>A Multiple submitters 3-methylglutaconic aciduria type 3
- c.*3212G>A Multiple submitters 3-methylglutaconic aciduria type 3
- c.*3387G>A Multiple submitters 3-methylglutaconic aciduria type 3
- c.*3531G>T Multiple submitters 3-methylglutaconic aciduria type 3
- c.*3722G>A Multiple submitters 3-methylglutaconic aciduria type 3
- c.*3874G>A Multiple submitters 3-methylglutaconic aciduria type 3
- c.*3878A>G Multiple submitters 3-methylglutaconic aciduria type 3
- c.*4318T>C Multiple submitters optic atrophy 3
- c.*4672G>A Multiple submitters optic atrophy 3
- c.*4857A>T Multiple submitters optic atrophy 3
- c.*5523G>A Multiple submitters optic atrophy 3
- c.*5525C>T Multiple submitters optic atrophy 3
- c.*577T>C Multiple submitters 3-methylglutaconic aciduria type 3
- c.*6012A>G Multiple submitters 3-methylglutaconic aciduria type 3
- c.*638T>A Multiple submitters 3-methylglutaconic aciduria type 3
- c.*6790T>C Multiple submitters 3-methylglutaconic aciduria type 3
- p.Ala77= Multiple submitters optic atrophy 3
- c.143-16698C>A Single submitter
- c.143-16757T>C Single submitter
- c.143-23_143-22del Single submitter
- c.143-5dup Single submitter 3-methylglutaconic aciduria type 3
- c.*3111AGC[3] Single submitter
- c.*3972C>T Single submitter optic atrophy 3
- c.*4850_*4852del Single submitter
- c.*5809dup Single submitter
Benign/Likely benign 17
- c.-38A>G Multiple submitters 3-methylglutaconic aciduria type 3
- c.*1340C>T Multiple submitters 3-methylglutaconic aciduria type 3
- c.*1760C>T Multiple submitters optic atrophy 3
- c.*1855T>C Multiple submitters 3-methylglutaconic aciduria type 3
- c.*2469G>A Multiple submitters 3-methylglutaconic aciduria type 3
- c.*2696C>G Multiple submitters 3-methylglutaconic aciduria type 3
- c.*3222C>T Multiple submitters optic atrophy 3
- c.*362T>C Multiple submitters 3-methylglutaconic aciduria type 3
- c.*4794C>T Multiple submitters optic atrophy 3
- c.*5905G>A Multiple submitters optic atrophy 3
- c.*6275T>C Multiple submitters optic atrophy 3
- c.*6294A>C Multiple submitters 3-methylglutaconic aciduria type 3
- c.*6394G>A Multiple submitters 3-methylglutaconic aciduria type 3
- c.*7015G>A Multiple submitters optic atrophy 3
- c.*7085A>G Multiple submitters optic atrophy 3
- p.Ala138Thr Multiple submitters 3-methylglutaconic aciduria type 3
- p.Lys179= Multiple submitters 3-methylglutaconic aciduria type 3
Likely benign 127
- c.142+10A>T Multiple submitters 3-methylglutaconic aciduria type 3
- c.142+16A>G Multiple submitters 3-methylglutaconic aciduria type 3
- c.142+81T>C Multiple submitters
- c.143-14C>T Multiple submitters 3-methylglutaconic aciduria type 3
- c.143-7C>T Multiple submitters 3-methylglutaconic aciduria type 3
- p.Ala135= Multiple submitters optic atrophy 3
- p.Ala142= Multiple submitters 3-methylglutaconic aciduria type 3
- p.Ala143= Multiple submitters 3-methylglutaconic aciduria type 3
- p.Ala173= Multiple submitters 3-methylglutaconic aciduria type 3
- p.Ala176= Multiple submitters 3-methylglutaconic aciduria type 3
- p.Asn72= Multiple submitters 3-methylglutaconic aciduria type 3
- p.Glu112= Multiple submitters 3-methylglutaconic aciduria type 3
- p.Gly85= Multiple submitters 3-methylglutaconic aciduria type 3
- p.Gly94= Multiple submitters optic atrophy 3
- p.Ile91= Multiple submitters 3-methylglutaconic aciduria type 3
- p.Leu149= Multiple submitters 3-methylglutaconic aciduria type 3
- c.142+10A>C Single submitter 3-methylglutaconic aciduria type 3
- c.142+11C>T Single submitter 3-methylglutaconic aciduria type 3
- c.142+12C>A Single submitter 3-methylglutaconic aciduria type 3
- c.142+13C>A Single submitter 3-methylglutaconic aciduria type 3
- c.142+13C>G Single submitter 3-methylglutaconic aciduria type 3
- c.142+13C>T Single submitter optic atrophy 3
- c.142+17T>A Single submitter 3-methylglutaconic aciduria type 3
- c.142+18T>C Single submitter 3-methylglutaconic aciduria type 3
- c.142+20C>T Single submitter optic atrophy 3
- c.142+9G>A Single submitter 3-methylglutaconic aciduria type 3
- c.142+9G>C Single submitter 3-methylglutaconic aciduria type 3
- c.143-10T>A Single submitter 3-methylglutaconic aciduria type 3
- c.143-12C>G Single submitter 3-methylglutaconic aciduria type 3
- c.143-12C>T Single submitter 3-methylglutaconic aciduria type 3
- c.143-16C>A Single submitter 3-methylglutaconic aciduria type 3
- c.143-16C>G Single submitter 3-methylglutaconic aciduria type 3
- c.143-16CT[2] Single submitter 3-methylglutaconic aciduria type 3
- c.143-174C>T Single submitter
- c.143-17C>T Single submitter 3-methylglutaconic aciduria type 3
- c.143-18C>T Single submitter 3-methylglutaconic aciduria type 3
- c.143-4G>T Single submitter 3-methylglutaconic aciduria type 3
- c.143-5C>T Single submitter optic atrophy 3
- c.143-6C>T Single submitter 3-methylglutaconic aciduria type 3
- c.143-7C>G Single submitter
- c.143-8C>T Single submitter optic atrophy 3
- c.143-9C>A Single submitter 3-methylglutaconic aciduria type 3
- c.143-9C>G Single submitter 3-methylglutaconic aciduria type 3
- c.-7C>G Single submitter 3-methylglutaconic aciduria type 3
- c.*24137T>G Single submitter
- c.*2A>T Single submitter
- c.*4696ATAA[8] Single submitter 3-methylglutaconic aciduria type 3
- c.*4857_*4858insC Single submitter
- c.*5365C>T Single submitter
- c.*6104_*6105del Single submitter
- p.Ala106= Single submitter 3-methylglutaconic aciduria type 3
- p.Ala117= Single submitter 3-methylglutaconic aciduria type 3
- p.Ala118= Single submitter 3-methylglutaconic aciduria type 3
- p.Ala121= Single submitter 3-methylglutaconic aciduria type 3
- p.Ala130= Single submitter 3-methylglutaconic aciduria type 3
- p.Ala138= Single submitter optic atrophy 3
- p.Ala148= Single submitter 3-methylglutaconic aciduria type 3
- p.Ala161= Single submitter optic atrophy 3
- p.Ala30= Single submitter 3-methylglutaconic aciduria type 3
- p.Ala5= Single submitter 3-methylglutaconic aciduria type 3
- p.Ala75= Single submitter optic atrophy 3
- p.Ala76= Single submitter 3-methylglutaconic aciduria type 3
- p.Arg103= Single submitter
- p.Arg109= Single submitter 3-methylglutaconic aciduria type 3
- p.Arg123= Single submitter optic atrophy 3
- p.Arg160= Single submitter
- p.Arg168= Single submitter 3-methylglutaconic aciduria type 3
- p.Arg33= Single submitter 3-methylglutaconic aciduria type 3
- p.Arg55= Single submitter 3-methylglutaconic aciduria type 3
- p.Asn120= Single submitter 3-methylglutaconic aciduria type 3
- p.Cys42= Single submitter
- p.Cys96= Single submitter 3-methylglutaconic aciduria type 3
- p.Gln139= Single submitter 3-methylglutaconic aciduria type 3
- p.Gln141Arg Single submitter
- p.Gln157= Single submitter 3-methylglutaconic aciduria type 3
- p.Glu114= Single submitter 3-methylglutaconic aciduria type 3
- p.Glu151= Single submitter 3-methylglutaconic aciduria type 3
- p.Glu158= Single submitter 3-methylglutaconic aciduria type 3
- p.Glu29= Single submitter 3-methylglutaconic aciduria type 3
- p.Glu74= Single submitter 3-methylglutaconic aciduria type 3
- p.Glu82= Single submitter 3-methylglutaconic aciduria type 3
- p.Gly127= Single submitter 3-methylglutaconic aciduria type 3
- p.Gly147= Single submitter 3-methylglutaconic aciduria type 3
- p.Gly167= Single submitter 3-methylglutaconic aciduria type 3
- p.Gly65= Single submitter optic atrophy 3
- p.Gly80= Single submitter 3-methylglutaconic aciduria type 3
- p.Gly93= Single submitter optic atrophy 3
- p.His172= Single submitter optic atrophy 3
- p.Ile41= Single submitter 3-methylglutaconic aciduria type 3
- p.Ile68= Single submitter 3-methylglutaconic aciduria type 3
- p.Leu122= Single submitter 3-methylglutaconic aciduria type 3
- p.Leu131= Single submitter optic atrophy 3
- p.Leu133= Single submitter 3-methylglutaconic aciduria type 3
- p.Leu156= Single submitter 3-methylglutaconic aciduria type 3
- p.Leu163= Single submitter 3-methylglutaconic aciduria type 3
- p.Leu48= Single submitter 3-methylglutaconic aciduria type 3
- p.Leu71= Single submitter 3-methylglutaconic aciduria type 3
- p.Leu79= Single submitter optic atrophy 3
- p.Leu83= Single submitter 3-methylglutaconic aciduria type 3
- p.Leu84= Single submitter 3-methylglutaconic aciduria type 3
- p.Leu97= Single submitter 3-methylglutaconic aciduria type 3
- p.Leu99= Single submitter optic atrophy 3
- p.Lys10= Single submitter optic atrophy 3
- p.Lys111= Single submitter 3-methylglutaconic aciduria type 3
- p.Lys28= Single submitter 3-methylglutaconic aciduria type 3
- p.Phe37= Single submitter 3-methylglutaconic aciduria type 3
- p.Pro145= Single submitter 3-methylglutaconic aciduria type 3
- p.Pro173= Single submitter
- p.Pro44= Single submitter 3-methylglutaconic aciduria type 3
- p.Pro45= Single submitter 3-methylglutaconic aciduria type 3
- p.Pro7= Single submitter 3-methylglutaconic aciduria type 3
- p.Pro70= Single submitter 3-methylglutaconic aciduria type 3
- p.Ser144= Single submitter
- p.Ser169= Single submitter 3-methylglutaconic aciduria type 3
- p.Ser171= Single submitter 3-methylglutaconic aciduria type 3
- p.Ser177= Single submitter optic atrophy 3
- p.Ter180= Single submitter 3-methylglutaconic aciduria type 3
- p.Thr154= Single submitter 3-methylglutaconic aciduria type 3
- p.Thr39= Single submitter 3-methylglutaconic aciduria type 3
- p.Thr56= Single submitter 3-methylglutaconic aciduria type 3
- p.Thr66= Single submitter 3-methylglutaconic aciduria type 3
- p.Tyr101= Single submitter 3-methylglutaconic aciduria type 3
- p.Tyr40= Single submitter optic atrophy 3
- p.Val159= Single submitter 3-methylglutaconic aciduria type 3
- p.Val174= Single submitter 3-methylglutaconic aciduria type 3
- p.Val67= Single submitter 3-methylglutaconic aciduria type 3
- p.Leu129= No assertion criteria OPA3-related disorder
Uncertain significance 302
Showing the top 300 by review status; the full set is in the sitemap.
- c.142+4A>T Multiple submitters optic atrophy 3
- c.143-5C>A Multiple submitters 3-methylglutaconic aciduria type 3
- c.*677C>T Multiple submitters 3-methylglutaconic aciduria type 3
- p.Ala121Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala130Val Multiple submitters ⚠
- p.Ala132Val Multiple submitters 3-methylglutaconic aciduria type 3 ⚠
- p.Ala142Pro Multiple submitters 3-methylglutaconic aciduria type 3 ⚠
- p.Ala142Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala142Val Multiple submitters optic atrophy 3 ⚠
- p.Ala143Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ala148Ser Multiple submitters 3-methylglutaconic aciduria type 3 ⚠
- p.Ala176Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala75Val Multiple submitters 3-methylglutaconic aciduria type 3 ⚠
- p.Ala81Thr Multiple submitters 3-methylglutaconic aciduria type 3 ⚠
- p.Arg115Ter Multiple submitters 3-methylglutaconic aciduria type 3
- p.Arg123Trp Multiple submitters 3-methylglutaconic aciduria type 3 ⚠
- p.Arg160Pro Multiple submitters 3-methylglutaconic aciduria type 3 ⚠
- p.Arg168Gln Multiple submitters optic atrophy 3 ⚠
- p.Arg32Ser Multiple submitters optic atrophy 3 ⚠
- p.Arg64Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asn165Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp124Glu Multiple submitters 3-methylglutaconic aciduria type 3 ⚠
- p.Gln137Pro Multiple submitters Inborn genetic diseases ⚠
- p.Gln139Arg Multiple submitters 3-methylglutaconic aciduria type 3 ⚠
- p.Gln141His Multiple submitters Inborn genetic diseases ⚠
- p.Gln146Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu113Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu125Lys Multiple submitters 3-methylglutaconic aciduria type 3 ⚠
- p.Glu29Asp Multiple submitters 3-methylglutaconic aciduria type 3 ⚠
- p.Glu86Lys Multiple submitters 3-methylglutaconic aciduria type 3 ⚠
- p.Gly167Arg Multiple submitters 3-methylglutaconic aciduria type 3 ⚠
- p.Gly80Ser Multiple submitters 3-methylglutaconic aciduria type 3 ⚠
- p.Ile41Val Multiple submitters 3-methylglutaconic aciduria type 3 ⚠
- p.Ile89Val Multiple submitters 3-methylglutaconic aciduria type 3 ⚠
- p.Leu149fs Multiple submitters Inborn genetic diseases
- p.Lys57Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met8Ile Multiple submitters Inborn genetic diseases ⚠
- p.Pro144Arg Multiple submitters optic atrophy 3 ⚠
- p.Pro145Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro172Ser Multiple submitters Inborn genetic diseases
- p.Thr39Ala Multiple submitters 3-methylglutaconic aciduria type 3 ⚠
- p.Trp119Arg Multiple submitters 3-methylglutaconic aciduria type 3
- p.Val3Leu Multiple submitters 3-methylglutaconic aciduria type 3 ⚠
- p.Val98Gly Multiple submitters optic atrophy 3 ⚠
- c.142+3_142+6del Single submitter 3-methylglutaconic aciduria type 3
- c.143-3C>A Single submitter 3-methylglutaconic aciduria type 3
- c.*1018A>G Single submitter 3-methylglutaconic aciduria type 3
- c.*1063G>A Single submitter optic atrophy 3
- c.*1070C>T Single submitter 3-methylglutaconic aciduria type 3
- c.*1076A>G Single submitter 3-methylglutaconic aciduria type 3
- c.*1091C>G Single submitter 3-methylglutaconic aciduria type 3
- c.*1193A>G Single submitter 3-methylglutaconic aciduria type 3
- c.*1213C>T Single submitter 3-methylglutaconic aciduria type 3
- c.*1214G>A Single submitter 3-methylglutaconic aciduria type 3
- c.*1254A>C Single submitter 3-methylglutaconic aciduria type 3
- c.*1462C>T Single submitter optic atrophy 3
- c.*1478A>G Single submitter 3-methylglutaconic aciduria type 3
- c.*1496C>T Single submitter optic atrophy 3
- c.*1614C>T Single submitter optic atrophy 3
- c.*1693C>T Single submitter optic atrophy 3
- c.*1799A>G Single submitter 3-methylglutaconic aciduria type 3
- c.*1863T>G Single submitter 3-methylglutaconic aciduria type 3
- c.*2041C>G Single submitter 3-methylglutaconic aciduria type 3
- c.*2089T>C Single submitter 3-methylglutaconic aciduria type 3
- c.*2188G>A Single submitter 3-methylglutaconic aciduria type 3
- c.*2198C>T Single submitter 3-methylglutaconic aciduria type 3
- c.*24457A>G Single submitter 3-methylglutaconic aciduria type 3
- c.*2490C>T Single submitter 3-methylglutaconic aciduria type 3
- c.*2545G>A Single submitter 3-methylglutaconic aciduria type 3
- c.*2590G>T Single submitter 3-methylglutaconic aciduria type 3
- c.*2620C>A Single submitter 3-methylglutaconic aciduria type 3
- c.*2662G>A Single submitter 3-methylglutaconic aciduria type 3
- c.*2702G>T Single submitter 3-methylglutaconic aciduria type 3
- c.*2714C>T Single submitter 3-methylglutaconic aciduria type 3
- c.*2726G>C Single submitter 3-methylglutaconic aciduria type 3
- c.*2859A>T Single submitter 3-methylglutaconic aciduria type 3
- c.*2896G>A Single submitter 3-methylglutaconic aciduria type 3
- c.*2964T>C Single submitter 3-methylglutaconic aciduria type 3
- c.*302C>T Single submitter 3-methylglutaconic aciduria type 3
- c.*3156G>T Single submitter 3-methylglutaconic aciduria type 3
- c.*322A>G Single submitter 3-methylglutaconic aciduria type 3
- c.*3245C>T Single submitter 3-methylglutaconic aciduria type 3
- c.*3278C>T Single submitter 3-methylglutaconic aciduria type 3
- c.*3295C>G Single submitter 3-methylglutaconic aciduria type 3
- c.*3350T>G Single submitter 3-methylglutaconic aciduria type 3
- c.*3358C>G Single submitter optic atrophy 3
- c.*3472G>A Single submitter optic atrophy 3
- c.*3496C>G Single submitter 3-methylglutaconic aciduria type 3
- c.*3570C>T Single submitter 3-methylglutaconic aciduria type 3
- c.*3581C>T Single submitter 3-methylglutaconic aciduria type 3
- c.*3644C>T Single submitter 3-methylglutaconic aciduria type 3
- c.*3669G>T Single submitter 3-methylglutaconic aciduria type 3
- c.*3754C>T Single submitter optic atrophy 3
- c.*3755G>A Single submitter 3-methylglutaconic aciduria type 3
- c.*3804G>A Single submitter optic atrophy 3
- c.*3845C>T Single submitter 3-methylglutaconic aciduria type 3
- c.*3891C>T Single submitter optic atrophy 3
- c.*420A>G Single submitter 3-methylglutaconic aciduria type 3
- c.*4233G>A Single submitter optic atrophy 3
- c.*4241C>T Single submitter optic atrophy 3
- c.*4372G>A Single submitter 3-methylglutaconic aciduria type 3
- c.*4419C>T Single submitter optic atrophy 3
- c.*4464G>T Single submitter optic atrophy 3
- c.*4521G>A Single submitter optic atrophy 3
- c.*4585C>T Single submitter optic atrophy 3
- c.*4586G>A Single submitter optic atrophy 3
- c.*4618G>A Single submitter optic atrophy 3
- c.*4696ATAA[6] Single submitter
- c.*4696ATAA[9] Single submitter
- c.*4763C>A Single submitter optic atrophy 3
- c.*4771C>G Single submitter optic atrophy 3
- c.*4773A>G Single submitter optic atrophy 3
- c.*4846A>T Single submitter optic atrophy 3
- c.*4853T>A Single submitter optic atrophy 3
- c.*4969C>G Single submitter optic atrophy 3
- c.*4975C>T Single submitter 3-methylglutaconic aciduria type 3
- c.*5013A>G Single submitter 3-methylglutaconic aciduria type 3
- c.*5045C>T Single submitter 3-methylglutaconic aciduria type 3
- c.*5258A>G Single submitter optic atrophy 3
- c.*5357G>A Single submitter optic atrophy 3
- c.*545G>T Single submitter 3-methylglutaconic aciduria type 3
- c.*5496C>T Single submitter optic atrophy 3
- c.*5510G>A Single submitter optic atrophy 3
- c.*5570C>T Single submitter 3-methylglutaconic aciduria type 3
- c.*5597C>T Single submitter optic atrophy 3
- c.*5644A>G Single submitter 3-methylglutaconic aciduria type 3
- c.*5660A>G Single submitter 3-methylglutaconic aciduria type 3
- c.*5730C>T Single submitter 3-methylglutaconic aciduria type 3
- c.*5739C>T Single submitter optic atrophy 3
- c.*5774G>C Single submitter optic atrophy 3
- c.*5774G>T Single submitter optic atrophy 3
- c.*5873C>T Single submitter optic atrophy 3
- c.*5888C>T Single submitter optic atrophy 3
- c.*6046G>A Single submitter 3-methylglutaconic aciduria type 3
- c.*6072A>G Single submitter 3-methylglutaconic aciduria type 3
- c.*6124C>T Single submitter 3-methylglutaconic aciduria type 3
- c.*6125G>A Single submitter 3-methylglutaconic aciduria type 3
- c.*6278G>A Single submitter 3-methylglutaconic aciduria type 3
- c.*6361G>A Single submitter optic atrophy 3
- c.*6461C>T Single submitter 3-methylglutaconic aciduria type 3
- c.*649C>T Single submitter 3-methylglutaconic aciduria type 3
- c.*6570G>C Single submitter 3-methylglutaconic aciduria type 3
- c.*6674T>C Single submitter 3-methylglutaconic aciduria type 3
- c.*6698G>T Single submitter 3-methylglutaconic aciduria type 3
- c.*6766C>T Single submitter 3-methylglutaconic aciduria type 3
- c.*6773G>T Single submitter 3-methylglutaconic aciduria type 3
- c.*6902G>A Single submitter optic atrophy 3
- c.*690G>T Single submitter 3-methylglutaconic aciduria type 3
- c.*7072A>T Single submitter optic atrophy 3
- c.*713C>G Single submitter 3-methylglutaconic aciduria type 3
- c.*7183G>A Single submitter optic atrophy 3
- c.*742A>T Single submitter optic atrophy 3
- c.*761C>T Single submitter 3-methylglutaconic aciduria type 3
- c.*821A>T Single submitter 3-methylglutaconic aciduria type 3
- c.*922G>T Single submitter 3-methylglutaconic aciduria type 3
- c.*964G>A Single submitter 3-methylglutaconic aciduria type 3
- p.130AL[1] Single submitter optic atrophy 3
- p.Ala106Pro Single submitter ⚠
- p.Ala106Thr Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Ala106Val Single submitter optic atrophy 3 ⚠
- p.Ala118Pro Single submitter 3-methylglutaconic aciduria type 3
- p.Ala130_Leu133del Single submitter
- p.Ala132Glu Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Ala135Gly Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Ala135Thr Single submitter ⚠
- p.Ala138_Gln139insLeuGluAlaLeuGlnAla Single submitter
- p.Ala143fs Single submitter 3-methylglutaconic aciduria type 3
- p.Ala143Gly Single submitter Inborn genetic diseases ⚠
- p.Ala143Val Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Ala148Pro Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Ala148Val Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Ala173Thr Single submitter optic atrophy 3 ⚠
- p.Ala30Val Single submitter 3-methylglutaconic aciduria type 3
- p.Ala31Pro Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Ala46Thr Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Ala5Thr Single submitter optic atrophy 3 ⚠
- p.Ala76Ser Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Ala81Val Single submitter
- p.Arg103Cys Single submitter ⚠
- p.Arg103His Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Arg123Pro Single submitter 3-methylglutaconic aciduria type 3
- p.Arg153His Single submitter Inborn genetic diseases
- p.Arg153Leu Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Arg168Trp Single submitter optic atrophy 3 ⚠
- p.Arg26Leu Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Arg32Cys Single submitter optic atrophy 3 ⚠
- p.Arg55Gln Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Arg55Trp Single submitter Inborn genetic diseases ⚠
- p.Arg59Pro Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Asn120Lys Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Asn165His Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Asn25Asp Single submitter 3-methylglutaconic aciduria type 3
- p.Asn72Asp Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Asn72Lys Single submitter
- p.Gln105Arg Single submitter ⚠
- p.Gln105Lys Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Gln107_Gln108insArgArgHisGlnAlaGln Single submitter 3-methylglutaconic aciduria type 3
- p.Gln107Arg Single submitter Inborn genetic diseases ⚠
- p.Gln108Arg Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Gln108Glu Single submitter ⚠
- p.Gln137His Single submitter ⚠
- p.Gln137Leu Single submitter ⚠
- p.Gln139His Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Gln141_Ala142delinsHisSer Single submitter 3-methylglutaconic aciduria type 3
- p.Gln146Lys Single submitter optic atrophy 3 ⚠
- p.Gln157fs Single submitter 3-methylglutaconic aciduria type 3
- p.Gln157Glu Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Gln162Glu Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Glu114Ter Single submitter
- p.Glu125Gln Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Glu125Val Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Glu150Gln Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Glu151Asp Single submitter ⚠
- p.Glu158Lys Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Glu179fs Single submitter 3-methylglutaconic aciduria type 3
- p.Glu73Val Single submitter
- p.Glu74Lys Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Glu74Ter Single submitter 3-methylglutaconic aciduria type 3
- p.Gly127Asp Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Gly167Cys Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Gly65Ala Single submitter optic atrophy 3 ⚠
- p.Gly65Ser Single submitter optic atrophy 3 ⚠
- p.Gly65Val Single submitter optic atrophy 3 ⚠
- p.Gly80Val Single submitter optic atrophy 3 ⚠
- p.Gly85Arg Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Gly94Ser Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Gly95Cys Single submitter optic atrophy 3 ⚠
- p.His104Pro Single submitter ⚠
- p.His110Pro Single submitter ⚠
- p.His128_Leu129insHis Single submitter optic atrophy 3
- p.His128Leu Single submitter Inborn genetic diseases
- p.His172Arg Single submitter Inborn genetic diseases ⚠
- p.Ile41Ser Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Ile60Thr Single submitter
- p.Ile68fs Single submitter 3-methylglutaconic aciduria type 3
- p.Ile91Met Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Ile91Phe Single submitter ⚠
- p.Leu129Gln Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Leu131Gln Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Leu133_Glu134insAlaLeu Single submitter 3-methylglutaconic aciduria type 3
- p.Leu133_Val140del Single submitter
- p.Leu14Val Single submitter optic atrophy 3 ⚠
- p.Leu152Pro Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Leu163Phe Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Leu43Val Single submitter optic atrophy 3 ⚠
- p.Leu71Pro Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Leu79Met Single submitter
- p.Leu84Pro Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Leu97Val Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Leu99Arg Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Leu99Pro Single submitter ⚠
- p.Lys10Arg Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Lys10Asn Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Lys111Glu Single submitter
- p.Lys28fs Single submitter 3-methylglutaconic aciduria type 3
- p.Lys69fs Single submitter 3-methylglutaconic aciduria type 3
- p.Met61Thr Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Phe37Leu Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Pro144Gln Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Pro144Thr Single submitter 3-methylglutaconic aciduria type 3
- p.Pro145Leu Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Pro168Gln Single submitter
- p.Pro172Leu Single submitter
- p.Pro173Arg Single submitter
- p.Pro44Leu Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Pro45Leu Single submitter Inborn genetic diseases ⚠
- p.Pro45Ser Single submitter optic atrophy 3 ⚠
- p.Thr154Pro Single submitter optic atrophy 3 ⚠
- p.Thr56_Lys57insGluMetArgThr Single submitter
- p.Thr66Met Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Thr88Ala Single submitter ⚠
- p.Thr88Ile Single submitter optic atrophy 3 ⚠
- p.Trp102Gly Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Tyr101Cys Single submitter OPA3-related disorder
- p.Tyr101His Single submitter optic atrophy 3 ⚠
- p.Tyr40Cys Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Tyr49His Single submitter optic atrophy 3 ⚠
- p.Val126Gly Single submitter ⚠
- p.Val67Ile Single submitter Inborn genetic diseases ⚠
- p.Val67Phe Single submitter OPA3-related disorder ⚠
- p.Val92Ala Single submitter 3-methylglutaconic aciduria type 3 ⚠
- p.Val92Met Single submitter 3-methylglutaconic aciduria type 3 ⚠
- c.*24359_*24363del No assertion criteria 3-methylglutaconic aciduria type 3
- p.Ala138Val No assertion criteria 3-methylglutaconic aciduria type 3 ⚠
- p.Arg103Gly No assertion criteria 3-methylglutaconic aciduria type 3 ⚠
- p.Gln139_Ala142del No assertion criteria 3-methylglutaconic aciduria type 3
- p.Gln141= No assertion criteria 3-methylglutaconic aciduria type 3
- p.Gln157_Val159del No assertion criteria 3-methylglutaconic aciduria type 3
- p.Glu100Lys No assertion criteria 3-methylglutaconic aciduria type 3 ⚠
- p.Glu112fs No assertion criteria 3-methylglutaconic aciduria type 3
- p.Glu86Ter No assertion criteria 3-methylglutaconic aciduria type 3
- p.Gly127fs No assertion criteria 3-methylglutaconic aciduria type 3
- p.Gly74fs No assertion criteria 3-methylglutaconic aciduria type 3
- p.Leu133Arg No assertion criteria OPA3-related disorder ⚠
- p.Leu133Pro No assertion criteria 3-methylglutaconic aciduria type 3 ⚠
- p.Lys111del No assertion criteria 3-methylglutaconic aciduria type 3
- p.Lys180_Ter181insTer No assertion criteria 3-methylglutaconic aciduria type 3
- p.Phe90del No assertion criteria 3-methylglutaconic aciduria type 3
- p.Pro144fs No assertion criteria 3-methylglutaconic aciduria type 3
- p.Ter181Gln No assertion criteria 3-methylglutaconic aciduria type 3