OPA1 — 1800 ClinVar variants
All ClinVar germline OPA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 556 flagged for review →
234 Pathogenic · 41 Pathogenic/Likely pathogenic · 125 Likely pathogenic · 128 Conflicting · 81 Benign · 26 Benign/Likely benign · 493 Likely benign · 672 Uncertain significance
Full OPA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 556
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.
-
OPA1 p.Lys383Arg
Pathogenic
Multiple submitters
OPA1-related disorder
-
OPA1 p.Ile487Val
Likely pathogenic
Single submitter
autosomal dominant optic atrophy, classic form
Predictors agree, ClinVar conflicts 61
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- OPA1 p.Ala1006Gly Conflicting Single submitter
-
OPA1 p.Ala115Val
Conflicting
Single submitter
optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- OPA1 p.Ala155Val Conflicting Single submitter
-
OPA1 p.Ala335Thr
Conflicting
Single submitter
Inborn genetic diseases
- OPA1 p.Ala91Thr Conflicting Single submitter
-
OPA1 p.Arg101Cys
Conflicting
Single submitter
autosomal dominant optic atrophy, classic form
-
OPA1 p.Arg101His
Conflicting
Single submitter
mitochondrial dna depletion syndrome 14A (encephalomyopathic type)
-
OPA1 p.Arg290Gln
Conflicting
Single submitter
inherited retinal dystrophy
-
OPA1 p.Arg345Trp
Conflicting
Single submitter
Abnormal brain morphology
-
OPA1 p.Arg421Gln
Conflicting
Single submitter
Behr syndrome
- OPA1 p.Arg500Ser Conflicting Single submitter
- OPA1 p.Arg52Gln Conflicting Single submitter
- OPA1 p.Arg71Cys Conflicting Single submitter
-
OPA1 p.Arg71His
Conflicting
Single submitter
autosomal dominant optic atrophy, classic form
-
OPA1 p.Arg85Cys
Conflicting
Single submitter
autosomal dominant optic atrophy, classic form
-
OPA1 p.Arg85His
Conflicting
Single submitter
Inborn genetic diseases
-
OPA1 p.Arg873Trp
Conflicting
Single submitter
Behr syndrome
- OPA1 p.Arg879Gln Conflicting Single submitter
-
OPA1 p.Arg987Cys
Conflicting
Single submitter
Childhood onset hearing loss
- OPA1 p.Asn700Ser Conflicting Single submitter
-
OPA1 p.Asn844Ser
Conflicting
Single submitter
OPA1-related disorder
- OPA1 p.Asn848Lys Conflicting Single submitter
- OPA1 p.Asp148Asn Conflicting Single submitter
- OPA1 p.Asp221Asn Conflicting Single submitter
-
OPA1 p.Asp328Val
Conflicting
Single submitter
OPA1-related disorder
-
OPA1 p.Asp398Ala
Conflicting
Single submitter
optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- OPA1 p.Gln352Pro Conflicting Single submitter
-
OPA1 p.Gln492Arg
Conflicting
Single submitter
autosomal dominant optic atrophy, classic form
-
OPA1 p.Gln579His
Conflicting
Single submitter
autosomal dominant optic atrophy, classic form
-
OPA1 p.Glu1009Asp
Conflicting
Single submitter
Behr syndrome
- OPA1 p.Glu207Lys Conflicting Single submitter
- OPA1 p.His392Asp Conflicting Single submitter
-
OPA1 p.His42Tyr
Conflicting
Single submitter
Inborn genetic diseases
-
OPA1 p.Ile24Val
Conflicting
Single submitter
autosomal dominant optic atrophy, classic form
- OPA1 p.Ile368Met Conflicting Single submitter
-
OPA1 p.Ile437Met
Conflicting
Single submitter
OPA1-Related Disorders Autosomal Recessive
-
OPA1 p.Ile567Thr
Conflicting
Single submitter
Inborn genetic diseases
- OPA1 p.Leu30Pro Conflicting Single submitter
-
OPA1 p.Leu489Pro
Conflicting
Single submitter
OPA1-related disorder
- OPA1 p.Leu953Val Conflicting Single submitter
- OPA1 p.Lys356Arg Conflicting Single submitter
-
OPA1 p.Lys397Glu
Conflicting
Single submitter
OPA1-related disorder
-
OPA1 p.Lys582Arg
Conflicting
Single submitter
Inborn genetic diseases
- OPA1 p.Lys582Glu Conflicting Single submitter
-
OPA1 p.Lys72Thr
Conflicting
Single submitter
Inborn genetic diseases
- OPA1 p.Lys74Asn Conflicting Single submitter
- OPA1 p.Lys827Arg Conflicting Single submitter
-
OPA1 p.Phe182Leu
Conflicting
Single submitter
autosomal dominant optic atrophy, classic form
-
OPA1 p.Pro206Leu
Conflicting
Single submitter
autosomal dominant optic atrophy, classic form
-
OPA1 p.Pro29Ala
Conflicting
Single submitter
mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type)
- OPA1 p.Pro69Ala Conflicting Single submitter
-
OPA1 p.Pro743Leu
Conflicting
Single submitter
Inborn genetic diseases
-
OPA1 p.Pro743Ser
Conflicting
Single submitter
Inborn genetic diseases
-
OPA1 p.Ser177Ile
Conflicting
Single submitter
autosomal dominant optic atrophy, classic form
-
OPA1 p.Ser63Thr
Conflicting
Single submitter
Inborn genetic diseases
- OPA1 p.Thr209Met Conflicting Single submitter
- OPA1 p.Thr95Met Conflicting Single submitter
-
OPA1 p.Val173Ile
Conflicting
Single submitter
Inborn genetic diseases
-
OPA1 p.Val531Ile
Conflicting
Single submitter
autosomal dominant optic atrophy, classic form
- OPA1 p.Val666Ile Conflicting Single submitter
-
OPA1 p.Val895Ile
Conflicting
Single submitter
Inborn genetic diseases
Predicted LoF vs a conflicting call 6
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
OPA1 c.556+2T>G
Conflicting
Single submitter
autosomal dominant optic atrophy, classic form
- OPA1 c.789+2T>C Conflicting Single submitter
-
OPA1 c.*4_*5+2del
Conflicting
Single submitter
mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type)
-
OPA1 p.Glu999Ter
Conflicting
Single submitter
autosomal dominant optic atrophy, classic form
-
OPA1 p.Phe1007Ter
Conflicting
Single submitter
OPA1-related disorder
-
OPA1 p.Ter1016Tyr
Conflicting
Single submitter
OPA1-related disorder
Predictors lean, ClinVar uncertain 286
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 286
-
OPA1 p.Ala1006Thr
Uncertain significance
Multiple submitters
autosomal dominant optic atrophy, classic form
- OPA1 p.Ala799Thr Uncertain significance Multiple submitters
-
OPA1 p.Ala8Ser
Uncertain significance
Multiple submitters
autosomal dominant optic atrophy, classic form
-
OPA1 p.Arg216Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPA1 p.Arg225Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPA1 p.Arg371Gly
Uncertain significance
Multiple submitters
autosomal dominant optic atrophy, classic form
- OPA1 p.Arg379Cys Uncertain significance Multiple submitters
- OPA1 p.Arg379His Uncertain significance Multiple submitters
- OPA1 p.Arg38Gln Uncertain significance Multiple submitters
-
OPA1 p.Arg641Trp
Uncertain significance
Multiple submitters
Behr syndrome
-
OPA1 p.Arg682Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- OPA1 p.Arg738Cys Uncertain significance Multiple submitters
- OPA1 p.Asp321Ala Uncertain significance Multiple submitters
- OPA1 p.Asp321Gly Uncertain significance Multiple submitters
- OPA1 p.Asp410Tyr Uncertain significance Multiple submitters
-
OPA1 p.Asp497Val
Uncertain significance
Multiple submitters
autosomal dominant optic atrophy, classic form
- OPA1 p.Cys430Arg Uncertain significance Multiple submitters
- OPA1 p.Gln340Pro Uncertain significance Multiple submitters
-
OPA1 p.Gln989Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- OPA1 p.Glu297Asp Uncertain significance Multiple submitters
- OPA1 p.Glu572Val Uncertain significance Multiple submitters
-
OPA1 p.Glu576Asp
Uncertain significance
Multiple submitters
optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
-
OPA1 p.Gly350Glu
Uncertain significance
Multiple submitters
optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
-
OPA1 p.Gly389Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPA1 p.Gly429Arg
Uncertain significance
Multiple submitters
OPA1-related disorder
- OPA1 p.Gly429Val Uncertain significance Multiple submitters
- OPA1 p.Gly976Asp Uncertain significance Multiple submitters
-
OPA1 p.Gly976Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPA1 p.His392Arg
Uncertain significance
Multiple submitters
optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
-
OPA1 p.Ile152Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPA1 p.Ile40Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- OPA1 p.Ile656Val Uncertain significance Multiple submitters
- OPA1 p.Ile751Val Uncertain significance Multiple submitters
- OPA1 p.Ile800Val Uncertain significance Multiple submitters
-
OPA1 p.Ile818Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPA1 p.Leu1011Pro
Uncertain significance
Multiple submitters
OPA1-related optic atrophy with or without extraocular features
- OPA1 p.Leu17Ile Uncertain significance Multiple submitters
- OPA1 p.Leu277Pro Uncertain significance Multiple submitters
- OPA1 p.Leu526Pro Uncertain significance Multiple submitters
- OPA1 p.Leu73Met Uncertain significance Multiple submitters
- OPA1 p.Lys267Arg Uncertain significance Multiple submitters
- OPA1 p.Lys32Gln Uncertain significance Multiple submitters
- OPA1 p.Lys582Gln Uncertain significance Multiple submitters
-
OPA1 p.Lys768Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- OPA1 p.Lys834Asn Uncertain significance Multiple submitters
- OPA1 p.Lys995Arg Uncertain significance Multiple submitters
-
OPA1 p.Met449Val
Uncertain significance
Multiple submitters
mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type)
-
OPA1 p.Pro127Leu
Uncertain significance
Multiple submitters
OPA1-related disorder
- OPA1 p.Pro127Thr Uncertain significance Multiple submitters
- OPA1 p.Pro167Leu Uncertain significance Multiple submitters
-
OPA1 p.Pro484Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- OPA1 p.Pro84Leu Uncertain significance Multiple submitters
- OPA1 p.Ser177Arg Uncertain significance Multiple submitters
- OPA1 p.Ser318Tyr Uncertain significance Multiple submitters
- OPA1 p.Ser336Arg Uncertain significance Multiple submitters
- OPA1 p.Ser336Thr Uncertain significance Multiple submitters
- OPA1 p.Ser37Leu Uncertain significance Multiple submitters
-
OPA1 p.Ser39Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPA1 p.Ser533Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPA1 p.Ser763Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPA1 p.Thr214Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPA1 p.Thr280Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPA1 p.Thr57Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- OPA1 p.Thr95Ala Uncertain significance Multiple submitters
- OPA1 p.Trp715Arg Uncertain significance Multiple submitters
-
OPA1 p.Tyr146Cys
Uncertain significance
Multiple submitters
autosomal dominant optic atrophy, classic form
-
OPA1 p.Tyr284Cys
Uncertain significance
Multiple submitters
autosomal dominant optic atrophy, classic form
- OPA1 p.Tyr80His Uncertain significance Multiple submitters
-
OPA1 p.Val13Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- OPA1 p.Val140Met Uncertain significance Multiple submitters
-
OPA1 p.Val329Ile
Uncertain significance
Multiple submitters
autosomal dominant optic atrophy, classic form
- OPA1 p.Val382Ile Uncertain significance Multiple submitters
- OPA1 p.Val384Gly Uncertain significance Multiple submitters
-
OPA1 p.Val883Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPA1 p.Val968Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- OPA1 p.Ala108Val Uncertain significance Single submitter
- OPA1 p.Ala366Asp Uncertain significance Single submitter
- OPA1 p.Ala366Pro Uncertain significance Single submitter
- OPA1 p.Ala569Gly Uncertain significance Single submitter
- OPA1 p.Ala695Val Uncertain significance Single submitter
- OPA1 p.Ala806Thr Uncertain significance Single submitter
- OPA1 p.Ala809Gly Uncertain significance Single submitter
- OPA1 p.Ala8Val Uncertain significance Single submitter
- OPA1 p.Ala91Gly Uncertain significance Single submitter
- OPA1 p.Ala943Ser Uncertain significance Single submitter
- OPA1 p.Ala991Glu Uncertain significance Single submitter
- OPA1 p.Arg101Leu Uncertain significance Single submitter
-
OPA1 p.Arg212Gly
Uncertain significance
Single submitter
inherited retinal dystrophy
- OPA1 p.Arg212Ser Uncertain significance Single submitter
- OPA1 p.Arg225Ile Uncertain significance Single submitter
- OPA1 p.Arg290Leu Uncertain significance Single submitter
- OPA1 p.Arg299Gly Uncertain significance Single submitter
- OPA1 p.Arg379Gly Uncertain significance Single submitter
- OPA1 p.Arg401Trp Uncertain significance Single submitter
- OPA1 p.Arg415Lys Uncertain significance Single submitter
- OPA1 p.Arg56Ser Uncertain significance Single submitter
- OPA1 p.Arg5His Uncertain significance Single submitter
-
OPA1 p.Arg612Pro
Uncertain significance
Single submitter
autosomal dominant optic atrophy, classic form
- OPA1 p.Arg626Gly Uncertain significance Single submitter
- OPA1 p.Arg639His Uncertain significance Single submitter
- OPA1 p.Arg6Gly Uncertain significance Single submitter
- OPA1 p.Arg71Gly Uncertain significance Single submitter
-
OPA1 p.Arg71Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- OPA1 p.Arg85Leu Uncertain significance Single submitter
- OPA1 p.Asn483Thr Uncertain significance Single submitter
- OPA1 p.Asn646Ser Uncertain significance Single submitter
- OPA1 p.Asn722Ser Uncertain significance Single submitter
- OPA1 p.Asn857Asp Uncertain significance Single submitter
-
OPA1 p.Asn909Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- OPA1 p.Asn955Ser Uncertain significance Single submitter
- OPA1 p.Asp120Gly Uncertain significance Single submitter
- OPA1 p.Asp144Ala Uncertain significance Single submitter
- OPA1 p.Asp168Glu Uncertain significance Single submitter
- OPA1 p.Asp170Asn Uncertain significance Single submitter
- OPA1 p.Asp181Gly Uncertain significance Single submitter
-
OPA1 p.Asp525Glu
Uncertain significance
Single submitter
mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type)
- OPA1 p.Asp771Asn Uncertain significance Single submitter
- OPA1 p.Asp771Glu Uncertain significance Single submitter
- OPA1 p.Asp825Gly Uncertain significance Single submitter
- OPA1 p.Asp975Ala Uncertain significance Single submitter
- OPA1 p.Gln274Pro Uncertain significance Single submitter
-
OPA1 p.Gln509Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- OPA1 p.Gln677Arg Uncertain significance Single submitter
- OPA1 p.Gln808His Uncertain significance Single submitter
- OPA1 p.Gln838Arg Uncertain significance Single submitter
- OPA1 p.Gln840His Uncertain significance Single submitter
-
OPA1 p.Glu12Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- OPA1 p.Glu131Gly Uncertain significance Single submitter
- OPA1 p.Glu174Lys Uncertain significance Single submitter
- OPA1 p.Glu268Asp Uncertain significance Single submitter
- OPA1 p.Glu276Lys Uncertain significance Single submitter
- OPA1 p.Glu292Gly Uncertain significance Single submitter
- OPA1 p.Glu375Lys Uncertain significance Single submitter
- OPA1 p.Glu408Gly Uncertain significance Single submitter
- OPA1 p.Glu471Lys Uncertain significance Single submitter
- OPA1 p.Glu572Gln Uncertain significance Single submitter
- OPA1 p.Glu576Lys Uncertain significance Single submitter
-
OPA1 p.Glu673Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
OPA1 p.Glu730Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- OPA1 p.Glu742Lys Uncertain significance Single submitter
- OPA1 p.Glu774Gln Uncertain significance Single submitter
- OPA1 p.Glu805Asp Uncertain significance Single submitter
- OPA1 p.Glu882Lys Uncertain significance Single submitter
- OPA1 p.Gly106Arg Uncertain significance Single submitter
- OPA1 p.Gly204Ala Uncertain significance Single submitter
- OPA1 p.Gly204Asp Uncertain significance Single submitter
- OPA1 p.Gly26Glu Uncertain significance Single submitter
- OPA1 p.Gly350Arg Uncertain significance Single submitter
-
OPA1 p.Gly350Val
Uncertain significance
Single submitter
optic atrophy
- OPA1 p.Gly443Asp Uncertain significance Single submitter
Predictors split 201
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 201
-
OPA1 p.Ala364Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPA1 p.Ala758Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- OPA1 p.Ala773Val Uncertain significance Multiple submitters
- OPA1 p.Ala991Val Uncertain significance Multiple submitters
- OPA1 p.Arg367Gln Uncertain significance Multiple submitters
- OPA1 p.Arg401Gln Uncertain significance Multiple submitters
-
OPA1 p.Arg500His
Pathogenic/Likely pathogenic
Multiple submitters
OPA1-related disorder
-
OPA1 p.Arg626His
Uncertain significance
Multiple submitters
OPA1-related disorder
-
OPA1 p.Arg639Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- OPA1 p.Arg645Gln Uncertain significance Multiple submitters
- OPA1 p.Arg645Trp Uncertain significance Multiple submitters
- OPA1 p.Arg738His Likely benign Multiple submitters
- OPA1 p.Arg788Gln Uncertain significance Multiple submitters
-
OPA1 p.Arg810His
Uncertain significance
Multiple submitters
mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type)
- OPA1 p.Arg873Gln Uncertain significance Multiple submitters
- OPA1 p.Arg937Cys Uncertain significance Multiple submitters
-
OPA1 p.Arg940His
Uncertain significance
Multiple submitters
autosomal dominant optic atrophy, classic form
-
OPA1 p.Asn783Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- OPA1 p.Asn947Thr Uncertain significance Multiple submitters
- OPA1 p.Asp410Asn Uncertain significance Multiple submitters
-
OPA1 p.Asp717Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPA1 p.Asp797Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- OPA1 p.Gln274Arg Uncertain significance Multiple submitters
-
OPA1 p.Gln939Arg
Uncertain significance
Multiple submitters
autosomal dominant optic atrophy, classic form
-
OPA1 p.Glu659Val
Uncertain significance
Multiple submitters
retinitis pigmentosa
- OPA1 p.Glu681Gly Uncertain significance Multiple submitters
- OPA1 p.Gly112Ser Uncertain significance Multiple submitters
-
OPA1 p.Gly494Val
Pathogenic
Multiple submitters
OPA1-related disorder
- OPA1 p.His686Arg Uncertain significance Multiple submitters
- OPA1 p.Ile104Met Uncertain significance Multiple submitters
- OPA1 p.Ile287Thr Uncertain significance Multiple submitters
-
OPA1 p.Ile541Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
- OPA1 p.Ile688Thr Uncertain significance Multiple submitters
- OPA1 p.Ile790Met Uncertain significance Multiple submitters
- OPA1 p.Leu93Ser Uncertain significance Multiple submitters
- OPA1 p.Leu953Phe Uncertain significance Multiple submitters
- OPA1 p.Lys544Thr Uncertain significance Multiple submitters
- OPA1 p.Lys669Ile Uncertain significance Multiple submitters
- OPA1 p.Lys711Gln Uncertain significance Multiple submitters
- OPA1 p.Lys723Thr Uncertain significance Multiple submitters
-
OPA1 p.Met322Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- OPA1 p.Met449Ile Uncertain significance Multiple submitters
- OPA1 p.Phe88Leu Uncertain significance Multiple submitters
- OPA1 p.Phe972Leu Uncertain significance Multiple submitters
- OPA1 p.Pro390Ser Uncertain significance Multiple submitters
-
OPA1 p.Ser387Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPA1 p.Thr339Met
Uncertain significance
Multiple submitters
autosomal dominant optic atrophy, classic form
- OPA1 p.Thr956Ile Uncertain significance Multiple submitters
-
OPA1 p.Trp122Arg
Uncertain significance
Multiple submitters
OPA1-related optic atrophy with or without extraocular features
-
OPA1 p.Tyr80Cys
Benign/Likely benign
Multiple submitters
autosomal dominant optic atrophy, classic form
-
OPA1 p.Tyr917His
Uncertain significance
Multiple submitters
autosomal dominant optic atrophy, classic form
- OPA1 p.Val109Ala Uncertain significance Multiple submitters
- OPA1 p.Val432Ile Uncertain significance Multiple submitters
- OPA1 p.Val666Leu Uncertain significance Multiple submitters
- OPA1 p.Val883Ala Uncertain significance Multiple submitters
-
OPA1 p.Ala354Gly
Uncertain significance
Single submitter
autosomal dominant optic atrophy, classic form
-
OPA1 p.Ala412Thr
Conflicting
Single submitter
OPA1-related disorder
-
OPA1 p.Ala550Pro
Uncertain significance
Single submitter
autosomal dominant optic atrophy, classic form
- OPA1 p.Ala550Val Pathogenic Single submitter
- OPA1 p.Ala624Glu Uncertain significance Single submitter
- OPA1 p.Ala695Ser Uncertain significance Single submitter
- OPA1 p.Ala696Glu Uncertain significance Single submitter
- OPA1 p.Ala696Val Uncertain significance Single submitter
- OPA1 p.Ala784Thr Uncertain significance Single submitter
- OPA1 p.Ala798Val Uncertain significance Single submitter
-
OPA1 p.Ala799Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- OPA1 p.Ala946Thr Uncertain significance Single submitter
- OPA1 p.Arg101Ser Uncertain significance Single submitter
-
OPA1 p.Arg286Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- OPA1 p.Arg367Pro Uncertain significance Single submitter
- OPA1 p.Arg500Cys Conflicting Single submitter
- OPA1 p.Arg626Cys Uncertain significance Single submitter
- OPA1 p.Arg639Cys Uncertain significance Single submitter
- OPA1 p.Arg682Gly Uncertain significance Single submitter
- OPA1 p.Arg682Ser Uncertain significance Single submitter
- OPA1 p.Arg766Gln Uncertain significance Single submitter
- OPA1 p.Arg810Cys Uncertain significance Single submitter
- OPA1 p.Arg810Pro Uncertain significance Single submitter
-
OPA1 p.Arg836Trp
Conflicting
Single submitter
autosomal dominant optic atrophy, classic form
-
OPA1 p.Arg912Leu
Uncertain significance
Single submitter
OPA1-related disorder
- OPA1 p.Arg92Gly Uncertain significance Single submitter
- OPA1 p.Arg940Cys Uncertain significance Single submitter
- OPA1 p.Arg960Gln Uncertain significance Single submitter
- OPA1 p.Arg96Ser Uncertain significance Single submitter
-
OPA1 p.Arg987His
Conflicting
Single submitter
optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- OPA1 p.Asn338Asp Uncertain significance Single submitter
- OPA1 p.Asn338Ser Uncertain significance Single submitter
- OPA1 p.Asn530Lys Conflicting Single submitter
-
OPA1 p.Asp124Tyr
Likely pathogenic
Single submitter
Behr syndrome
- OPA1 p.Asp168His Uncertain significance Single submitter
- OPA1 p.Asp453Glu Uncertain significance Single submitter
- OPA1 p.Asp505Asn Uncertain significance Single submitter
- OPA1 p.Asp709Asn Uncertain significance Single submitter
- OPA1 p.Asp709Gly Conflicting Single submitter
- OPA1 p.Asp709Tyr Uncertain significance Single submitter
- OPA1 p.Asp749Gly Uncertain significance Single submitter
- OPA1 p.Asp797Val Uncertain significance Single submitter
- OPA1 p.Asp813Gly Uncertain significance Single submitter
- OPA1 p.Asp867Gly Uncertain significance Single submitter
- OPA1 p.Asp931Gly Uncertain significance Single submitter
- OPA1 p.Asp971Val Uncertain significance Single submitter
-
OPA1 p.Cys430Gly
Uncertain significance
Single submitter
autosomal dominant optic atrophy, classic form
- OPA1 p.Gln340Arg Uncertain significance Single submitter
- OPA1 p.Gln365Arg Conflicting Single submitter
-
OPA1 p.Gln492His
Uncertain significance
Single submitter
Behr syndrome
- OPA1 p.Gln697His Uncertain significance Single submitter
- OPA1 p.Glu1014Gln Uncertain significance Single submitter
- OPA1 p.Glu575Asp Uncertain significance Single submitter
- OPA1 p.Glu647Gly Uncertain significance Single submitter
- OPA1 p.Glu726Ala Uncertain significance Single submitter
- OPA1 p.Glu734Val Likely benign Single submitter
- OPA1 p.Glu735Val Uncertain significance Single submitter
- OPA1 p.Glu786Lys Uncertain significance Single submitter
- OPA1 p.Glu804Gln Uncertain significance Single submitter
- OPA1 p.Glu926Gln Uncertain significance Single submitter
- OPA1 p.Glu962Gly Uncertain significance Single submitter
-
OPA1 p.Gly110Val
Uncertain significance
Single submitter
Inborn genetic diseases
- OPA1 p.Gly309Asp Uncertain significance Single submitter
- OPA1 p.Gly389Ser Uncertain significance Single submitter
-
OPA1 p.Gly429Asp
Conflicting
Single submitter
Inborn genetic diseases
- OPA1 p.Gly464Asp Conflicting Single submitter
- OPA1 p.Gly702Val Uncertain significance Single submitter
- OPA1 p.Gly880Ala Uncertain significance Single submitter
- OPA1 p.Gly985Asp Uncertain significance Single submitter
- OPA1 p.His34Tyr Uncertain significance Single submitter
-
OPA1 p.His782Arg
Uncertain significance
Single submitter
Behr syndrome
- OPA1 p.Ile418Thr Uncertain significance Single submitter
- OPA1 p.Ile458Thr Likely pathogenic Single submitter
-
OPA1 p.Ile473Thr
Likely pathogenic
Single submitter
Hereditary neuropathy or pain disorder
- OPA1 p.Ile518Met Uncertain significance Single submitter
- OPA1 p.Ile567Met Uncertain significance Single submitter
- OPA1 p.Ile570Val Uncertain significance Single submitter
- OPA1 p.Ile661Thr Uncertain significance Single submitter
- OPA1 p.Ile710Val Uncertain significance Single submitter
- OPA1 p.Ile751Thr Uncertain significance Single submitter
-
OPA1 p.Ile780Val
Uncertain significance
Single submitter
Inborn genetic diseases
- OPA1 p.Ile938Met Likely benign Single submitter
- OPA1 p.Leu1004Ile Uncertain significance Single submitter
- OPA1 p.Leu1004Val Uncertain significance Single submitter
- OPA1 p.Leu1011Phe Conflicting Single submitter
- OPA1 p.Leu17Ser Uncertain significance Single submitter
- OPA1 p.Leu278Arg Uncertain significance Single submitter
- OPA1 p.Leu720Ile Uncertain significance Single submitter
- OPA1 p.Leu732Val Uncertain significance Single submitter
-
OPA1 p.Leu850Phe
Uncertain significance
Single submitter
Behr syndrome
-
OPA1 p.Leu910Arg
Conflicting
Single submitter
Inborn genetic diseases
- OPA1 p.Leu949Val Uncertain significance Single submitter
- OPA1 p.Lys117Asn Uncertain significance Single submitter
- OPA1 p.Lys383Asn Uncertain significance Single submitter
- OPA1 p.Lys529Glu Uncertain significance Single submitter
All OPA1 variants
Pathogenic 234
- c.1035+1G>A Multiple submitters
- c.1149+1G>A Multiple submitters OPA1-related disorder
- c.1150-2A>G Multiple submitters
- c.1230+1G>A Multiple submitters optic atrophy
- c.1305+1G>T Multiple submitters OPA1-related disorder
- c.1377+1G>A Multiple submitters OPA1-related disorder
- c.1377+2dup Multiple submitters optic atrophy
- c.1681+1G>T Multiple submitters autosomal dominant optic atrophy, classic form
- c.2178+1G>A Multiple submitters OPA1-related disorder
- c.2779-1G>A Multiple submitters
- c.2872+1G>C Multiple submitters OPA1-related disorder
- c.2983+5G>A Multiple submitters OPA1-related disorder
- c.949-1G>A Multiple submitters OPA1-related disorder
- p.Arg290Ter Multiple submitters OPA1-related disorder
- p.Arg367Ter Multiple submitters autosomal dominant optic atrophy, classic form
- p.Arg38Ter Multiple submitters autosomal dominant optic atrophy, classic form
- p.Arg421Ter Multiple submitters OPA1-related optic atrophy with or without extraocular features
- p.Arg52Ter Multiple submitters OPA1-related disorder
- p.Arg788Ter Multiple submitters optic atrophy
- p.Arg912Ter Multiple submitters Behr syndrome
- p.Arg960Ter Multiple submitters OPA1-related disorder
- p.Arg998fs Multiple submitters OPA1-related disorder
- p.Asp266fs Multiple submitters inherited retinal dystrophy
- p.Gln274Ter Multiple submitters optic atrophy
- p.Glu957Ter Multiple submitters autosomal dominant optic atrophy, classic form
- p.Gly355Glu Multiple submitters OPA1-related disorder
- p.Gly494Val Multiple submitters OPA1-related disorder ⚠
- p.His686fs Multiple submitters optic atrophy
- p.Ile320fs Multiple submitters OPA1-related optic atrophy with or without extraocular features
- p.Leu178Ter Multiple submitters
- p.Leu301Ter Multiple submitters autosomal dominant optic atrophy, classic form
- p.Leu451Arg Multiple submitters optic atrophy
- p.Lys267fs Multiple submitters Inborn genetic diseases
- p.Lys269fs Multiple submitters OPA1-related disorder
- p.Lys383Arg Multiple submitters OPA1-related disorder ⚠
- p.Lys996fs Multiple submitters
- p.Phe802fs Multiple submitters OPA1-related disorder
- p.Ser600Arg Multiple submitters autosomal dominant optic atrophy, classic form
- p.Ser763fs Multiple submitters OPA1-related disorder
- p.Thr469fs Multiple submitters OPA1-related disorder
- p.Thr504Arg Multiple submitters autosomal dominant optic atrophy, classic form
- p.Trp633Ter Multiple submitters
- p.Trp833Ter Multiple submitters optic atrophy
- p.Trp892Ter Multiple submitters OPA1-related disorder
- p.Tyr113fs Multiple submitters OPA1-related disorder
- p.Tyr284Ter Multiple submitters
- p.Val349del Multiple submitters autosomal dominant optic atrophy, classic form
- c.1035+1G>T Single submitter
- c.1035+2del Single submitter
- c.1035+2T>C Single submitter
- c.1149+1G>C Single submitter
- c.1149+2T>G Single submitter
- c.1150-1G>A Single submitter autosomal dominant optic atrophy, classic form
- c.1305+1G>A Single submitter
- c.1305+1G>C Single submitter
- c.1305+2T>C Single submitter OPA1-related disorder
- c.1377+1G>T Single submitter autosomal dominant optic atrophy, classic form
- c.1377+4del Single submitter
- c.1378-1G>A Single submitter OPA1-related disorder
- c.1575_1608+4del Single submitter
- c.1606_1608+10delinsCAGTCCACAAATCT Single submitter autosomal dominant optic atrophy, classic form
- c.1608+1G>A Single submitter
- c.1681+1G>A Single submitter optic atrophy
- c.1681+1G>C Single submitter
- c.1754+1G>A Single submitter OPA1-related disorder
- c.1754+2T>G Single submitter
- c.2012+1G>C Single submitter optic atrophy
- c.2179-1G>A Single submitter
- c.2179-1G>C Single submitter
- c.2179-2A>G Single submitter
- c.2440+1G>A Single submitter
- c.2520+1G>A Single submitter
- c.2661+1G>A Single submitter Inborn genetic diseases
- c.2661+4_2661+5delinsGTAAC Single submitter
- c.2779-2A>C Single submitter optic atrophy
- c.2779-2A>G Single submitter
- c.2779-2A>T Single submitter
- c.2873-2A>G Single submitter
- c.33-280_180del Single submitter autosomal dominant optic atrophy, classic form
- c.448+1G>A Single submitter
- c.678+2T>G Single submitter
- c.949-1G>C Single submitter
- c.949-2A>G Single submitter OPA1-related disorder
- c.949-2A>T Single submitter
- c.985del Single submitter
- p.Ala210fs Single submitter
- p.Ala394fs Single submitter
- p.Ala550Val Single submitter ⚠
- p.Ala991fs Single submitter
- p.Arg313Ter Single submitter
- p.Arg3Ter Single submitter
- p.Arg500Pro Single submitter Inborn genetic diseases
- p.Arg682fs Single submitter
- p.Arg738fs Single submitter
- p.Arg86fs Single submitter
- p.Arg940fs Single submitter
- p.Asn67fs Single submitter
- p.Asn844fs Single submitter
- p.Asn848fs Single submitter
- p.Asn906fs Single submitter autosomal dominant optic atrophy, classic form
- p.Asn964fs Single submitter
- p.Asp975_Gly976insTer Single submitter
- p.Cys490fs Single submitter
- p.Gln272Ter Single submitter optic nerve disorder
- p.Gln482fs Single submitter
- p.Gln482Ter Single submitter
- p.Gln509Ter Single submitter optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- p.Gln579fs Single submitter
- p.Gln60fs Single submitter
- p.Gln714Ter Single submitter
- p.Gln719Ter Single submitter
- p.Gln733fs Single submitter
- p.Gln808Ter Single submitter
- p.Gln919Ter Single submitter
- p.Gln939Ter Single submitter optic atrophy
- p.Gln952fs Single submitter
- p.Glu1002fs Single submitter
- p.Glu528fs Single submitter
- p.Glu572Ter Single submitter
- p.Glu575fs Single submitter
- p.Glu647_Leu648insTer Single submitter
- p.Glu655Ter Single submitter OPA1-related disorder
- p.Glu730fs Single submitter
- p.Glu742fs Single submitter
- p.Glu762Ter Single submitter
- p.Glu839Ter Single submitter
- p.Glu849fs Single submitter
- p.Glu868_Ile869insTer Single submitter autosomal dominant optic atrophy, classic form
- p.Glu877fs Single submitter optic atrophy
- p.Gly456Arg Single submitter auditory neuropathy
- p.His513fs Single submitter OPA1-related disorder
- p.Ile147fs Single submitter
- p.Ile24fs Single submitter autosomal dominant optic atrophy, classic form
- p.Ile270fs Single submitter
- p.Ile363fs Single submitter
- p.Ile518fs Single submitter
- p.Ile570fs Single submitter optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- p.Ile751_Phe752insTer Single submitter OPA1-related disorder
- p.Ile78fs Single submitter
- p.Leu228fs Single submitter optic nerve disorder
- p.Leu278fs Single submitter
- p.Leu291Ter Single submitter OPA1-related disorder
- p.Leu327Pro Single submitter
- p.Leu33fs Single submitter
- p.Leu395fs Single submitter
- p.Leu451His Single submitter
- p.Leu454fs Single submitter
- p.Leu489fs Single submitter
- p.Leu506fs Single submitter
- p.Leu679fs Single submitter
- p.Leu901fs Single submitter
- p.Leu901Ter Single submitter OPA1-related disorder
- p.Leu98fs Single submitter
- p.Lys154Ter Single submitter autosomal dominant cerebellar ataxia
- p.Lys317Ter Single submitter
- p.Lys356fs Single submitter
- p.Lys470Glu Single submitter
- p.Lys523Glu Single submitter optic atrophy
- p.Lys756fs Single submitter OPA1-related disorder
- p.Lys765Ter Single submitter autosomal dominant optic atrophy, classic form
- p.Lys847fs Single submitter
- p.Lys889Ter Single submitter
- p.Lys979Ter Single submitter
- p.Lys981fs Single submitter
- p.Met1Ile Single submitter optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- p.Phe119fs Single submitter autosomal dominant optic atrophy, classic form
- p.Phe649fs Single submitter optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- p.Pro344fs Single submitter
- p.Ser107Ter Single submitter
- p.Ser177_Leu178delinsArgTer Single submitter
- p.Ser463Ter Single submitter OPA1-related disorder
- p.Ser566fs Single submitter
- p.Thr118_Phe119insTer Single submitter OPA1-related disorder
- p.Thr339fs Single submitter
- p.Thr378Ile Single submitter
- p.Thr406fs Single submitter
- p.Thr667fs Single submitter OPA1-related disorder
- p.Thr698_Met699insTer Single submitter optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- p.Thr954fs Single submitter
- p.Trp122Ter Single submitter optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- p.Trp134Ter Single submitter
- p.Trp141fs Single submitter
- p.Trp141Ter Single submitter OPA1-related disorder
- p.Trp826Ter Single submitter
- p.Tyr337Ter Single submitter
- p.Tyr553delinsLysLeuSerGlnTer Single submitter optic nerve disorder
- p.Tyr637fs Single submitter
- p.Tyr692fs Single submitter optic nerve disorder
- p.Tyr896fs Single submitter autosomal dominant optic atrophy, classic form
- p.Val461fs Single submitter
- p.Val660fs Single submitter
- p.Val895_Tyr896insTer Single submitter
- p.Val988fs Single submitter
- c.1150-15_1151del No assertion criteria optic atrophy
- c.1230+2T>C No assertion criteria optic atrophy
- c.1480_1483del No assertion criteria optic atrophy
- c.(1754+1_1755-1 No assertion criteria optic atrophy
- c.2521-1G>A No assertion criteria optic atrophy
- c.(2778+1_2779-1 No assertion criteria optic atrophy
- c.2983+2T>C No assertion criteria optic atrophy
- c.352-2_556+69del No assertion criteria optic atrophy
- c.(610+1_611-1 No assertion criteria optic atrophy
- c.(843+1_844-1 No assertion criteria optic atrophy
- c.(948+1_949-1 No assertion criteria optic atrophy
- p.Arg101fs No assertion criteria optic atrophy
- p.Arg645= No assertion criteria optic atrophy
- p.Asn338fs No assertion criteria optic atrophy
- p.Asn530fs No assertion criteria optic atrophy
- p.Asp1005fs No assertion criteria optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- p.Asp351Gly No assertion criteria mitochondrial dna depletion syndrome 14A (encephalomyopathic type)
- p.Cys606Tyr No assertion criteria optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy ⚠
- p.Gln31Ter No assertion criteria optic atrophy
- p.Glu471fs No assertion criteria optic atrophy
- p.Glu650fs No assertion criteria
- p.Glu681fs No assertion criteria optic atrophy
- p.Leu589Arg No assertion criteria mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type)
- p.Leu982Ter No assertion criteria OPA1-related disorder
- p.Lys995fs No assertion criteria optic atrophy
- p.Pro455Ala No assertion criteria optic atrophy
- p.Pro512fs No assertion criteria optic atrophy
- p.Pro721fs No assertion criteria optic atrophy
- p.Ser265Ter No assertion criteria optic atrophy
- p.Ser664fs No assertion criteria optic atrophy
- p.Thr462fs No assertion criteria optic atrophy
- p.Thr891fs No assertion criteria optic atrophy
- p.Thr903fs No assertion criteria optic atrophy
- p.Trp680Ter No assertion criteria optic atrophy
- p.Tyr323His No assertion criteria mitochondrial dna depletion syndrome 14A (encephalomyopathic type) ⚠
- p.Tyr637Cys No assertion criteria optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- p.Tyr80Ter No assertion criteria optic atrophy
- p.Tyr917Ter No assertion criteria autosomal dominant optic atrophy, classic form
- p.Val136fs No assertion criteria optic atrophy
- p.Val452Gly No assertion criteria optic atrophy
- p.Val965Asp No assertion criteria optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Pathogenic/Likely pathogenic 41
- c.1035+5G>A Multiple submitters autosomal dominant optic atrophy, classic form
- c.1230+5G>A Multiple submitters OPA1-related disorder
- c.1377_1377+4del Multiple submitters OPA1-related disorder
- c.1935+1G>C Multiple submitters autosomal dominant optic atrophy, classic form
- c.1936-2A>G Multiple submitters
- c.2012+1G>T Multiple submitters OPA1-related disorder
- c.2012+4_2012+7del Multiple submitters autosomal dominant optic atrophy, classic form
- c.2013-1G>A Multiple submitters
- c.2661+1G>T Multiple submitters OPA1-related disorder
- c.2778+1G>A Multiple submitters autosomal dominant optic atrophy, classic form
- c.2779-9A>G Multiple submitters OPA1-related disorder
- c.2873_2876del Multiple submitters OPA1-related disorder
- c.2885_2983+8del Multiple submitters Behr syndrome
- c.2984-1_2986del Multiple submitters
- c.556+1G>A Multiple submitters optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- c.610+364G>A Multiple submitters optic nerve disorder
- p.Arg345Gln Multiple submitters optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- p.Arg500His Multiple submitters OPA1-related disorder ⚠
- p.Arg766Ter Multiple submitters OPA1-related disorder
- p.Asp170Ter Multiple submitters OPA1-related disorder
- p.Asp351Glu Multiple submitters OPA1-related disorder
- p.Asp351His Multiple submitters neurodevelopmental disorder
- p.Asp493Gly Multiple submitters autosomal dominant optic atrophy, classic form
- p.Asp493Val Multiple submitters autosomal dominant optic atrophy, classic form
- p.Cys929Ter Multiple submitters OPA1-related disorder
- p.Gln340Ter Multiple submitters
- p.Gln538Ter Multiple submitters
- p.Gln733Ter Multiple submitters OPA1-related disorder
- p.Glu289Ter Multiple submitters
- p.Glu858Ter Multiple submitters OPA1-related disorder
- p.Gly464fs Multiple submitters OPA1-related disorder
- p.Leu330_Ser331insTer Multiple submitters OPA1-related disorder
- p.Leu887= Multiple submitters OPA1-related disorder
- p.Lys383= Multiple submitters OPA1-related disorder
- p.Phe772fs Multiple submitters autosomal dominant optic atrophy, classic form
- p.Pro455Leu Multiple submitters OPA1-related disorder
- p.Pro455Ser Multiple submitters mitochondrial disease
- p.Ser387fs Multiple submitters OPA1-related disorder
- p.Val997fs Multiple submitters OPA1-related disorder
- p.Ser684Ter Single submitter autosomal dominant optic atrophy, classic form
- c.1149+1_1149+5del No assertion criteria autosomal dominant optic atrophy, classic form
Likely pathogenic 125
- c.1149+1G>T Multiple submitters autosomal dominant optic atrophy, classic form
- c.1935+1G>T Multiple submitters Behr syndrome
- c.2661+2T>C Multiple submitters OPA1-related disorder
- p.Gln714fs Multiple submitters autosomal dominant optic atrophy, classic form
- p.Glu851Ter Multiple submitters OPA1-related disorder
- p.Leu1004Pro Multiple submitters autosomal dominant optic atrophy, classic form
- p.Leu629Pro Multiple submitters OPA1-related disorder
- c.1035+1G>C Single submitter OPA1-related disorder
- c.1036-16_1111del Single submitter autosomal dominant optic atrophy, classic form
- c.1036-1G>A Single submitter
- c.1036-1G>T Single submitter
- c.1036-2del Single submitter OPA1-related disorder
- c.1150-1G>C Single submitter
- c.1150-1G>T Single submitter OPA1-related disorder
- c.1150-2A>T Single submitter
- c.1305+2T>G Single submitter autosomal dominant optic atrophy, classic form
- c.1377+2T>G Single submitter
- c.1377+5G>T Single submitter
- c.1478-2A>G Single submitter
- c.1754+1dup Single submitter
- c.1931_1935+18del Single submitter OPA1-related disorder
- c.2332-1G>A Single submitter OPA1-related disorder
- c.2521-8T>G Single submitter optic atrophy
- c.2661+1G>C Single submitter autosomal dominant optic atrophy, classic form
- c.2873-2A>T Single submitter
- c.2983+3G>C Single submitter
- c.2984-1G>A Single submitter
- c.33-1G>T Single submitter OPA1-related disorder
- c.33-2A>C Single submitter autosomal dominant optic atrophy, classic form
- c.448+2T>A Single submitter
- c.556+2T>A Single submitter
- p.Ala166fs Single submitter OPA1-related disorder
- p.Ala550Asp Single submitter OPA1-related disorder
- p.Arg286fs Single submitter OPA1-related disorder
- p.Arg379_Pro381del Single submitter OPA1-related disorder
- p.Arg38_Ser43dup Single submitter Tip-toe gait
- p.Arg448fs Single submitter OPA1-related disorder
- p.Arg500Gly Single submitter auditory neuropathy
- p.Asn295Lys Single submitter autosomal dominant optic atrophy, classic form
- p.Asn485Ile Single submitter autosomal dominant optic atrophy, classic form
- p.Asn636fs Single submitter OPA1-related disorder
- p.Asn636Ter Single submitter OPA1-related disorder
- p.Asn705Ter Single submitter optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- p.Asn875fs Single submitter OPA1-related disorder
- p.Asp124Tyr Single submitter Behr syndrome ⚠
- p.Asp328Gly Single submitter OPA1-related disorder
- p.Asp493Ala Single submitter
- p.Asp497Ala Single submitter
- p.Asp505fs Single submitter OPA1-related disorder
- p.Asp525fs Single submitter OPA1-related disorder
- p.Cys430fs Single submitter OPA1-related disorder
- p.Cys490Arg Single submitter OPA1-related disorder
- p.Cys490Tyr Single submitter OPA1-related disorder
- p.Gln1001fs Single submitter OPA1-related disorder
- p.Gln539Ter Single submitter OPA1-related disorder
- p.Gln665Ter Single submitter OPA1-related disorder
- p.Gln794Ter Single submitter OPA1-related disorder
- p.Gln838fs Single submitter OPA1-related disorder
- p.Gln840Arg Single submitter
- p.Glu294Ter Single submitter autosomal dominant optic atrophy, classic form
- p.Glu435= Single submitter optic atrophy
- p.Glu499Lys Single submitter intellectual disability
- p.Glu630fs Single submitter autosomal dominant optic atrophy, classic form
- p.Glu992Ter Single submitter OPA1-related disorder
- p.Gly514Glu Single submitter OPA1-related disorder
- p.Gly543Arg Single submitter
- p.Ile368Glu Single submitter OPA1-related optic atrophy with or without extraocular features
- p.Ile437fs Single submitter optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- p.Ile458Thr Single submitter ⚠
- p.Ile473fs Single submitter
- p.Ile473Thr Single submitter Hereditary neuropathy or pain disorder ⚠
- p.Ile487Val Single submitter autosomal dominant optic atrophy, classic form ⚠
- p.Ile488del Single submitter OPA1-related disorder
- p.Ile818fs Single submitter OPA1-related disorder
- p.Leu1004Arg Single submitter optic atrophy
- p.Leu178fs Single submitter
- p.Leu301fs Single submitter
- p.Leu303Ter Single submitter OPA1-related disorder
- p.Leu414fs Single submitter autosomal dominant optic atrophy, classic form
- p.Leu949fs Single submitter OPA1-related disorder
- p.Lys1003fs Single submitter
- p.Lys74fs Single submitter OPA1-related disorder
- p.Lys979fs Single submitter Behr syndrome
- p.Lys996Thr Single submitter autosomal dominant optic atrophy, classic form
- p.Met1Leu Single submitter
- p.Met376Val Single submitter
- p.Met481Arg Single submitter optic atrophy
- p.Met548Arg Single submitter OPA1-related disorder
- p.Phe935fs Single submitter auditory neuropathy
- p.Pro434fs Single submitter OPA1-related disorder
- p.Pro547fs Single submitter Behr syndrome
- p.Ser256Arg Single submitter
- p.Ser353Asn Single submitter OPA1-related disorder ⚠
- p.Ser353Gly Single submitter
- p.Ser373Cys Single submitter optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- p.Ser39fs Single submitter autosomal dominant optic atrophy, classic form
- p.Ser64fs Single submitter OPA1-related disorder
- p.Ser789fs Single submitter
- p.Thr431Ala Single submitter OPA1-related optic atrophy with or without extraocular features ⚠
- p.Thr436Ser Single submitter OPA1-related disorder ⚠
- p.Thr517Pro Single submitter
- p.Thr558fs Single submitter OPA1-related disorder
- p.Trp2Ter Single submitter optic atrophy
- p.Trp830Ter Single submitter Behr syndrome
- p.Trp936fs Single submitter autosomal dominant optic atrophy, classic form
- p.Val346Leu Single submitter autosomal dominant optic atrophy, classic form ⚠
- p.Val347Phe Single submitter
- p.Val349Phe Single submitter optic atrophy
- p.Val382fs Single submitter OPA1-related disorder
- p.Val450Met Single submitter autosomal dominant optic atrophy, classic form
- c.2013-6T>G No assertion criteria optic atrophy
- c.2439_2440+3dup No assertion criteria optic atrophy
- p.Asp328Ala No assertion criteria optic atrophy
- p.Asp493His No assertion criteria optic atrophy
- p.Glu574Lys No assertion criteria optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- p.Glu576fs No assertion criteria optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- p.Glu757fs No assertion criteria OPA1-related disorder
- p.Gly494Glu No assertion criteria optic atrophy
- p.Gly823Asp No assertion criteria optic atrophy
- p.Leu55fs No assertion criteria autosomal dominant optic atrophy, classic form
- p.Leu994Pro No assertion criteria optic atrophy
- p.Ser324Pro No assertion criteria optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- p.Thr504fs No assertion criteria optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- p.Val452fs No assertion criteria optic atrophy
- p.Val507fs No assertion criteria optic atrophy
Conflicting classifications of pathogenicity 128
- c.1036-9T>C Single submitter autosomal dominant optic atrophy, classic form
- c.1150-5A>G Single submitter
- c.1377+5del Single submitter
- c.1377+5G>A Single submitter autosomal dominant optic atrophy, classic form
- c.1378-11T>C Single submitter
- c.1378-4T>C Single submitter
- c.1681+3A>G Single submitter optic atrophy
- c.1935+3A>G Single submitter
- c.2013-10_2013-8del Single submitter
- c.2179-3T>C Single submitter
- c.2331+4T>C Single submitter
- c.2441-4C>G Single submitter
- c.2441-4dup Single submitter Inborn genetic diseases
- c.2520+13A>G Single submitter
- c.2873-10C>G Single submitter
- c.2983+6T>A Single submitter autosomal dominant optic atrophy, classic form
- c.33-8T>C Single submitter mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type)
- c.556+2T>G Single submitter autosomal dominant optic atrophy, classic form ⚠
- c.610+360G>A Single submitter OPA1-related disorder
- c.789+2T>C Single submitter ⚠
- c.790-4T>A Single submitter autosomal dominant optic atrophy, classic form
- c.843+5T>C Single submitter
- c.-10C>T Single submitter autosomal dominant optic atrophy, classic form
- c.-8C>T Single submitter autosomal dominant optic atrophy, classic form
- c.*4_*5+2del Single submitter mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) ⚠
- p.Ala1006Gly Single submitter ⚠
- p.Ala115Val Single submitter optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy ⚠
- p.Ala155Val Single submitter ⚠
- p.Ala246Val Single submitter
- p.Ala335Thr Single submitter Inborn genetic diseases ⚠
- p.Ala412Thr Single submitter OPA1-related disorder ⚠
- p.Ala466= Single submitter
- p.Ala696= Single submitter autosomal dominant optic atrophy, classic form
- p.Ala91Thr Single submitter ⚠
- p.Arg101Cys Single submitter autosomal dominant optic atrophy, classic form ⚠
- p.Arg101His Single submitter mitochondrial dna depletion syndrome 14A (encephalomyopathic type) ⚠
- p.Arg262His Single submitter
- p.Arg290Gln Single submitter inherited retinal dystrophy ⚠
- p.Arg345Trp Single submitter Abnormal brain morphology ⚠
- p.Arg38_Ser43del Single submitter Behr syndrome
- p.Arg421Gln Single submitter Behr syndrome ⚠
- p.Arg500Cys Single submitter ⚠
- p.Arg500Ser Single submitter ⚠
- p.Arg52Gln Single submitter ⚠
- p.Arg71Cys Single submitter ⚠
- p.Arg71His Single submitter autosomal dominant optic atrophy, classic form ⚠
- p.Arg836Trp Single submitter autosomal dominant optic atrophy, classic form ⚠
- p.Arg85Cys Single submitter autosomal dominant optic atrophy, classic form ⚠
- p.Arg85His Single submitter Inborn genetic diseases ⚠
- p.Arg873Trp Single submitter Behr syndrome ⚠
- p.Arg879Gln Single submitter ⚠
- p.Arg987Cys Single submitter Childhood onset hearing loss ⚠
- p.Arg987His Single submitter optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy ⚠
- p.Asn530Lys Single submitter ⚠
- p.Asn700Ser Single submitter ⚠
- p.Asn844Ser Single submitter OPA1-related disorder ⚠
- p.Asn848Lys Single submitter ⚠
- p.Asp148Asn Single submitter ⚠
- p.Asp221Asn Single submitter ⚠
- p.Asp307= Single submitter
- p.Asp328Val Single submitter OPA1-related disorder ⚠
- p.Asp398Ala Single submitter optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy ⚠
- p.Asp410= Single submitter
- p.Asp709Gly Single submitter ⚠
- p.Gln236Lys Single submitter
- p.Gln238Glu Single submitter
- p.Gln260Arg Single submitter
- p.Gln352Pro Single submitter ⚠
- p.Gln365Arg Single submitter ⚠
- p.Gln492Arg Single submitter autosomal dominant optic atrophy, classic form ⚠
- p.Gln579His Single submitter autosomal dominant optic atrophy, classic form ⚠
- p.Gln989His Single submitter Inborn genetic diseases
- p.Glu1009Asp Single submitter Behr syndrome ⚠
- p.Glu207Lys Single submitter ⚠
- p.Glu241Gly Single submitter
- p.Glu542= Single submitter Behr syndrome
- p.Glu576del Single submitter OPA1-related disorder
- p.Glu999Ter Single submitter autosomal dominant optic atrophy, classic form ⚠
- p.Gly429Asp Single submitter Inborn genetic diseases ⚠
- p.Gly464Asp Single submitter ⚠
- p.His242Pro Single submitter
- p.His392Asp Single submitter ⚠
- p.His42Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile1008Thr Single submitter
- p.Ile143= Single submitter
- p.Ile194Thr Single submitter
- p.Ile24Val Single submitter autosomal dominant optic atrophy, classic form ⚠
- p.Ile368Met Single submitter ⚠
- p.Ile437Met Single submitter OPA1-Related Disorders Autosomal Recessive ⚠
- p.Ile567Thr Single submitter Inborn genetic diseases ⚠
- p.Leu1011Phe Single submitter ⚠
- p.Leu232= Single submitter
- p.Leu30= Single submitter autosomal dominant optic atrophy, classic form
- p.Leu30Pro Single submitter ⚠
- p.Leu330= Single submitter autosomal dominant optic atrophy, classic form
- p.Leu489Pro Single submitter OPA1-related disorder ⚠
- p.Leu807= Single submitter
- p.Leu864= Single submitter autosomal dominant optic atrophy, classic form
- p.Leu910Arg Single submitter Inborn genetic diseases ⚠
- p.Leu953Val Single submitter ⚠
- p.Lys356Arg Single submitter ⚠
- p.Lys397Glu Single submitter OPA1-related disorder ⚠
- p.Lys582Arg Single submitter Inborn genetic diseases ⚠
- p.Lys582Glu Single submitter ⚠
- p.Lys72Thr Single submitter Inborn genetic diseases ⚠
- p.Lys74Asn Single submitter ⚠
- p.Lys827Arg Single submitter ⚠
- p.Phe1007Ter Single submitter OPA1-related disorder ⚠
- p.Phe182Leu Single submitter autosomal dominant optic atrophy, classic form ⚠
- p.Pro206Leu Single submitter autosomal dominant optic atrophy, classic form ⚠
- p.Pro29Ala Single submitter mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) ⚠
- p.Pro69Ala Single submitter ⚠
- p.Pro743Leu Single submitter Inborn genetic diseases ⚠
- p.Pro743Ser Single submitter Inborn genetic diseases ⚠
- p.Ser177Ile Single submitter autosomal dominant optic atrophy, classic form ⚠
- p.Ser63Thr Single submitter Inborn genetic diseases ⚠
- p.Ter1016Tyr Single submitter OPA1-related disorder ⚠
- p.Thr209Met Single submitter ⚠
- p.Thr255Met Single submitter
- p.Thr95Met Single submitter ⚠
- p.Tyr102Cys Single submitter optic atrophy ⚠
- p.Tyr82Cys Single submitter Behr syndrome ⚠
- p.Val173Ile Single submitter Inborn genetic diseases ⚠
- p.Val531Ile Single submitter autosomal dominant optic atrophy, classic form ⚠
- p.Val556Ile Single submitter OPA1-related disorder ⚠
- p.Val666Ile Single submitter ⚠
- p.Val895Ile Single submitter Inborn genetic diseases ⚠
- p.Val988Ile Single submitter autosomal dominant optic atrophy, classic form
Benign 81
- c.1035+32T>C Multiple submitters
- c.1035+37A>C Multiple submitters
- c.1035+4T>C Multiple submitters Behr syndrome
- c.1608+23G>A Multiple submitters
- c.1609-75T>C Multiple submitters
- c.1754+106G>A Multiple submitters
- c.1935+16T>G Multiple submitters
- c.1935+51T>G Multiple submitters
- c.2179-81G>T Multiple submitters
- c.2441-98T>C Multiple submitters
- c.2778+11C>G Multiple submitters autosomal dominant optic atrophy, classic form
- c.2779-112A>G Multiple submitters
- c.2872+25T>A Multiple submitters
- c.2983+206C>T Multiple submitters
- c.2983+207A>G Multiple submitters
- c.2983+23T>C Multiple submitters
- c.2984-126T>C Multiple submitters
- c.351+78G>A Multiple submitters
- c.449-21A>G Multiple submitters
- c.611-19T>C Multiple submitters
- c.611-233T>C Multiple submitters
- c.679-120C>G Multiple submitters
- c.679-8C>T Multiple submitters
- c.*1113C>T Multiple submitters autosomal dominant optic atrophy, classic form
- c.*1343A>G Multiple submitters autosomal dominant optic atrophy, classic form
- c.*1425G>A Multiple submitters autosomal dominant optic atrophy, classic form
- c.*2092C>T Multiple submitters autosomal dominant optic atrophy, classic form
- c.*2344A>G Multiple submitters autosomal dominant optic atrophy, classic form
- c.*2391T>C Multiple submitters autosomal dominant optic atrophy, classic form
- c.*283A>G Multiple submitters autosomal dominant optic atrophy, classic form
- c.*2873A>T Multiple submitters autosomal dominant optic atrophy, classic form
- c.*3027A>G Multiple submitters autosomal dominant optic atrophy, classic form
- c.*560T>C Multiple submitters autosomal dominant optic atrophy, classic form
- p.Ala991= Multiple submitters autosomal dominant optic atrophy, classic form
- p.Arg448= Multiple submitters autosomal dominant optic atrophy, classic form
- p.Gln15Lys Multiple submitters mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type)
- p.Ser107= Multiple submitters Behr syndrome
- c.1305+128dup Single submitter
- c.1478-12dup Single submitter
- c.1478-147C>T Single submitter
- c.1608+295G>A Single submitter
- c.1609-179G>A Single submitter
- c.1609-9dup Single submitter
- c.1754+265A>G Single submitter
- c.1754+270_1754+273del Single submitter
- c.1935+281A>G Single submitter
- c.2178+253C>G Single submitter
- c.2332-323G>A Single submitter
- c.2441-234G>A Single submitter
- c.2441-5del Single submitter
- c.2521-14del Single submitter
- c.2521-155del Single submitter
- c.2661+306C>T Single submitter
- c.2662-11del Single submitter
- c.2778+279_2778+280insAGTAA Single submitter
- c.2779-142T>C Single submitter
- c.2872+178C>T Single submitter
- c.2984-250G>A Single submitter
- c.32+286C>T Single submitter
- c.33-91TG[4] Single submitter
- c.351+180A>G Single submitter
- c.351+228dup Single submitter
- c.351+275G>C Single submitter
- c.449-121A>G Single submitter
- c.556+178G>T Single submitter
- c.678+296G>A Single submitter
- c.790-286T>C Single submitter
- c.844-135G>A Single submitter
- c.-172T>A Single submitter autosomal dominant optic atrophy, classic form
- c.*1031A>T Single submitter autosomal dominant optic atrophy, classic form
- c.*1610C>A Single submitter autosomal dominant optic atrophy, classic form
- c.*2115G>A Single submitter autosomal dominant optic atrophy, classic form
- c.*220A>G Single submitter autosomal dominant optic atrophy, classic form
- c.*2286T>C Single submitter autosomal dominant optic atrophy, classic form
- c.*228A>G Single submitter autosomal dominant optic atrophy, classic form
- c.*2408A>G Single submitter autosomal dominant optic atrophy, classic form
- c.*2993C>A Single submitter autosomal dominant optic atrophy, classic form
- c.*376A>G Single submitter autosomal dominant optic atrophy, classic form
- c.*623G>A Single submitter autosomal dominant optic atrophy, classic form
- p.Asn440Ser Single submitter
- p.Pro206= Single submitter
Benign/Likely benign 26
- c.1036-8G>T Multiple submitters
- c.1377+10T>C Multiple submitters
- c.1682-16del Multiple submitters
- c.2331+10T>C Multiple submitters autosomal dominant optic atrophy, classic form
- c.2332-19C>A Multiple submitters
- c.2441-5dup Multiple submitters
- c.2521-16T>A Multiple submitters
- c.2872+15G>C Multiple submitters
- c.2984-4A>G Multiple submitters autosomal dominant optic atrophy, classic form
- c.32+14C>T Multiple submitters autosomal dominant optic atrophy, classic form
- c.448+50A>G Multiple submitters
- c.556+19G>A Multiple submitters
- c.678+13G>C Multiple submitters autosomal dominant optic atrophy, classic form
- c.949-11A>C Multiple submitters autosomal dominant optic atrophy, classic form
- c.949-12_949-11insTA Multiple submitters
- p.Ala250Thr Multiple submitters
- p.Ala412= Multiple submitters autosomal dominant optic atrophy, classic form
- p.Ala773= Multiple submitters
- p.Arg960= Multiple submitters autosomal dominant optic atrophy, classic form
- p.Arg987= Multiple submitters autosomal dominant optic atrophy, classic form
- p.Gln61Arg Multiple submitters
- p.Pro434= Multiple submitters autosomal dominant optic atrophy, classic form
- p.Thr431= Multiple submitters
- p.Tyr80Cys Multiple submitters autosomal dominant optic atrophy, classic form ⚠
- p.Val140= Multiple submitters autosomal dominant optic atrophy, classic form
- p.Val683= Multiple submitters autosomal dominant optic atrophy, classic form
Likely benign 493
Showing the top 300 by review status; the full set is in the sitemap.
- c.1035+20T>C Multiple submitters
- c.1149+12G>A Multiple submitters
- c.1149+15C>T Multiple submitters
- c.1230+20G>A Multiple submitters
- c.1231-53T>G Multiple submitters
- c.1306-109A>T Multiple submitters
- c.1306-17T>G Multiple submitters
- c.1377+9A>G Multiple submitters
- c.1477+32A>G Multiple submitters
- c.1478-12T>A Multiple submitters
- c.1871-11T>G Multiple submitters
- c.1871-15T>C Multiple submitters
- c.1871-66C>A Multiple submitters
- c.1935+15C>T Multiple submitters
- c.1935+17C>T Multiple submitters
- c.1935+47T>A Multiple submitters
- c.1936-11A>C Multiple submitters
- c.1936-9A>G Multiple submitters
- c.2012+7A>G Multiple submitters
- c.2179-23T>C Multiple submitters
- c.2179-24T>G Multiple submitters
- c.2331+115G>T Multiple submitters
- c.2332-14_2332-12del Multiple submitters
- c.2440+14del Multiple submitters
- c.2441-13T>A Multiple submitters
- c.2441-15_2441-12del Multiple submitters
- c.2441-19A>G Multiple submitters
- c.2662-18T>C Multiple submitters
- c.2778+19_2778+20del Multiple submitters
- c.2872+11T>C Multiple submitters
- c.2983+84C>T Multiple submitters
- c.351+13T>G Multiple submitters
- c.351+8T>C Multiple submitters
- c.448+15C>T Multiple submitters
- c.556+13C>T Multiple submitters
- c.611-9A>G Multiple submitters
- c.678+11A>G Multiple submitters
- c.844-4G>A Multiple submitters Inborn genetic diseases
- c.948+10G>A Multiple submitters
- c.948+11T>A Multiple submitters
- p.Ala210= Multiple submitters
- p.Ala246= Multiple submitters
- p.Arg286= Multiple submitters
- p.Arg738His Multiple submitters ⚠
- p.Asn440= Multiple submitters
- p.Asp750= Multiple submitters
- p.Asp787= Multiple submitters
- p.Gln252= Multiple submitters
- p.Gln676= Multiple submitters
- p.Gln677= Multiple submitters
- p.Glu145= Multiple submitters
- p.Glu241= Multiple submitters
- p.Glu970= Multiple submitters
- p.His312= Multiple submitters
- p.His392= Multiple submitters
- p.His767= Multiple submitters
- p.Ile938Val Multiple submitters
- p.Leu1004= Multiple submitters
- p.Leu178= Multiple submitters
- p.Leu201= Multiple submitters
- p.Leu50= Multiple submitters
- p.Leu648= Multiple submitters
- p.Lys812= Multiple submitters
- p.Lys874= Multiple submitters
- p.Pro127= Multiple submitters
- p.Pro29= Multiple submitters
- p.Pro743= Multiple submitters
- p.Pro77= Multiple submitters
- p.Ser358= Multiple submitters
- p.Thr255= Multiple submitters
- p.Thr460= Multiple submitters
- p.Thr703= Multiple submitters
- p.Thr731= Multiple submitters
- p.Thr903= Multiple submitters
- p.Thr945= Multiple submitters
- p.Thr948= Multiple submitters
- p.Tyr113= Multiple submitters autosomal dominant optic atrophy, classic form
- p.Tyr573= Multiple submitters
- p.Tyr80= Multiple submitters
- p.Val933= Multiple submitters
- p.Val958= Multiple submitters
- p.Val968= Multiple submitters
- c.1035+18A>G Single submitter
- c.1035+324G>A Single submitter
- c.1035+9A>G Single submitter
- c.1036-17C>A Single submitter
- c.1036-4del Single submitter
- c.1036-4G>A Single submitter
- c.1149+13G>A Single submitter
- c.1149+14C>T Single submitter
- c.1149+16G>A Single submitter
- c.1149+178G>A Single submitter
- c.1149+7A>G Single submitter
- c.1149+9A>G Single submitter
- c.1150-161A>G Single submitter
- c.1150-8A>G Single submitter
- c.1230+12T>C Single submitter
- c.1230+13C>A Single submitter
- c.1230+21dup Single submitter
- c.1230+9A>G Single submitter
- c.1231-12_1231-11del Single submitter
- c.1231-15T>C Single submitter
- c.1231-4T>C Single submitter
- c.1231-6C>T Single submitter
- c.1231-7C>T Single submitter
- c.1305+128del Single submitter
- c.1305+15T>A Single submitter
- c.1305+17A>G Single submitter
- c.1305+18T>G Single submitter
- c.1306-10T>C Single submitter
- c.1306-19T>G Single submitter
- c.1306-55T>A Single submitter
- c.1306-9C>T Single submitter
- c.1377+17C>T Single submitter
- c.1377+18A>T Single submitter
- c.1377+38A>T Single submitter
- c.1377+8T>C Single submitter
- c.1378-25G>C Single submitter
- c.1477+11T>C Single submitter
- c.1477+13A>G Single submitter
- c.1477+17G>A Single submitter
- c.1477+17G>T Single submitter
- c.1477+18A>G Single submitter
- c.1478-141G>A Single submitter
- c.1478-16T>C Single submitter
- c.1478-20C>T Single submitter
- c.1478-7T>C Single submitter
- c.1608+138G>A Single submitter
- c.1608+290C>G Single submitter
- c.1609-15C>T Single submitter
- c.1609-17C>T Single submitter
- c.1609-294G>A Single submitter
- c.1609-3T>C Single submitter
- c.1609-4A>C Single submitter
- c.1609-7A>T Single submitter
- c.1681+15del Single submitter
- c.1681+18A>G Single submitter
- c.1681+18A>T Single submitter
- c.1681+7A>G Single submitter
- c.1682-17C>A Single submitter
- c.1682-18A>G Single submitter
- c.1682-9C>T Single submitter
- c.1754+10T>C Single submitter
- c.1754+12_1754+22del Single submitter
- c.1754+22T>G Single submitter
- c.1755-228A>G Single submitter
- c.1870+20G>C Single submitter
- c.1871-12C>T Single submitter
- c.1871-13C>G Single submitter
- c.1871-13C>T Single submitter
- c.1871-14T>C Single submitter
- c.1871-18C>T Single submitter
- c.1871-19A>C Single submitter
- c.1871-19A>G Single submitter
- c.1871-20A>C Single submitter
- c.1871-287G>A Single submitter
- c.1871-4T>G Single submitter
- c.1935+10G>A Single submitter
- c.1935+11G>A Single submitter
- c.1935+177_1935+180del Single submitter
- c.1935+17C>A Single submitter
- c.1935+18G>A Single submitter
- c.1935+9T>A Single submitter
- c.1936-11A>G Single submitter
- c.1936-13_1936-12del Single submitter
- c.1936-15A>G Single submitter
- c.1936-17G>A Single submitter
- c.1936-18T>A Single submitter
- c.1936-21_1936-18del Single submitter
- c.2012+16del Single submitter
- c.2013-13T>G Single submitter
- c.2013-14C>A Single submitter
- c.2013-14C>T Single submitter
- c.2013-20T>C Single submitter
- c.2178+19T>C Single submitter
- c.2178+7A>G Single submitter
- c.2178+9A>G Single submitter
- c.2179-37G>A Single submitter
- c.2179-39T>C Single submitter
- c.2331+14A>G Single submitter
- c.2331+18T>C Single submitter
- c.2331+18T>G Single submitter
- c.2331+19G>C Single submitter
- c.2331+20G>A Single submitter
- c.2332-265T>G Single submitter
- c.2440+10G>T Single submitter
- c.2440+13A>G Single submitter
- c.2440+14C>T Single submitter
- c.2440+15G>A Single submitter
- c.2440+18T>G Single submitter
- c.2440+7G>A Single submitter
- c.2441-134G>C Single submitter
- c.2441-14A>T Single submitter
- c.2441-17T>C Single submitter
- c.2520+19_2520+20del Single submitter
- c.2520+19C>G Single submitter
- c.2520+4G>A Single submitter
- c.2521-14T>A Single submitter
- c.2521-15T>C Single submitter
- c.2521-16_2521-12del Single submitter
- c.2521-4A>T Single submitter
- c.2521-7T>C Single submitter
- c.2661+20_2661+29del Single submitter
- c.2662-10C>G Single submitter
- c.2662-17_2662-14del Single submitter
- c.2778+19_2778+22del Single submitter
- c.2778+23_2778+24del Single submitter
- c.2778+258A>T Single submitter
- c.2779-13C>A Single submitter
- c.2779-149T>C Single submitter
- c.2779-290A>G Single submitter
- c.2779-4T>G Single submitter
- c.2779-7A>T Single submitter
- c.2872+10A>G Single submitter
- c.2872+13G>A Single submitter
- c.2872+15G>A Single submitter
- c.2872+15G>T Single submitter
- c.2872+8A>T Single submitter
- c.2872+9C>T Single submitter
- c.2873-18T>C Single submitter
- c.2873-6A>T Single submitter
- c.2983+11C>G Single submitter
- c.2983+11C>T Single submitter
- c.2983+128C>T Single submitter
- c.2983+12T>C Single submitter
- c.2983+1319dup Single submitter
- c.2983+13T>C Single submitter
- c.2983+15C>T Single submitter
- c.2984-10A>C Single submitter
- c.2984-18T>C Single submitter
- c.2984-6C>G Single submitter
- c.32+14C>G Single submitter
- c.33-13A>G Single submitter
- c.33-8T>G Single submitter
- c.351+13T>C Single submitter
- c.351+16C>T Single submitter
- c.351+9G>C Single submitter
- c.352-14T>G Single submitter
- c.352-17A>G Single submitter
- c.352-5T>C Single submitter
- c.448+12G>A Single submitter
- c.448+14A>G Single submitter
- c.448+17T>C Single submitter
- c.449-11A>G Single submitter
- c.449-11A>T Single submitter
- c.449-13T>C Single submitter
- c.449-18T>C Single submitter
- c.449-19A>G Single submitter
- c.449-23C>T Single submitter
- c.449-28A>G Single submitter
- c.556+12G>T Single submitter
- c.556+14T>C Single submitter
- c.556+15G>A Single submitter
- c.556+18T>C Single submitter
- c.556+9G>A Single submitter
- c.557-11A>G Single submitter
- c.557-12G>C Single submitter
- c.557-19T>G Single submitter
- c.557-20C>A Single submitter
- c.557-20C>G Single submitter
- c.557-5C>A Single submitter
- c.557-5C>T Single submitter
- c.610+12_610+15del Single submitter
- c.610+12G>T Single submitter
- c.610+33A>T Single submitter
- c.610+364G>T Single submitter
- c.610+368G>A Single submitter
- c.610+8A>G Single submitter
- c.611-15A>G Single submitter
- c.611-15A>T Single submitter
- c.611-19T>G Single submitter
- c.611-7C>T Single submitter
- c.678+10A>G Single submitter
- c.678+11A>C Single submitter
- c.678+12A>T Single submitter
- c.678+15_678+16del Single submitter
- c.678+235T>C Single submitter
- c.678+8T>G Single submitter
- c.679-19C>A Single submitter
- c.679-301dup Single submitter
- c.679-4G>A Single submitter
- c.679-7G>A Single submitter
- c.679-7G>C Single submitter
- c.679-7G>T Single submitter
- c.789+10G>A Single submitter
- c.789+13T>A Single submitter
- c.789+14del Single submitter
- c.789+15A>G Single submitter
- c.789+17G>A Single submitter
- c.789+27G>C Single submitter
- c.789+6G>T Single submitter
- c.790-10A>C Single submitter
- c.790-18A>G Single submitter
- c.843+11T>C Single submitter
- c.843+16A>G Single submitter
- c.843+18G>A Single submitter
- c.843+274A>G Single submitter
- c.843+7A>G Single submitter
- c.843+8T>C Single submitter
- c.844-12_844-10del Single submitter
Uncertain significance 672
Showing the top 300 by review status; the full set is in the sitemap.
- c.1036-5G>A Multiple submitters
- c.1036-6G>A Multiple submitters
- c.1149+5G>A Multiple submitters
- c.1608+5G>A Multiple submitters Inborn genetic diseases
- c.1608+8C>A Multiple submitters
- c.1681+5G>A Multiple submitters
- c.2012+2dup Multiple submitters Inborn genetic diseases
- c.2179-7A>G Multiple submitters
- c.2440+6T>C Multiple submitters
- c.2441-5T>C Multiple submitters
- c.556+3A>G Multiple submitters
- c.-3G>A Multiple submitters autosomal dominant optic atrophy, classic form
- p.Ala1006Thr Multiple submitters autosomal dominant optic atrophy, classic form ⚠
- p.Ala1010Val Multiple submitters
- p.Ala250fs Multiple submitters
- p.Ala364Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala758Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala773Val Multiple submitters ⚠
- p.Ala799Thr Multiple submitters ⚠
- p.Ala8Ser Multiple submitters autosomal dominant optic atrophy, classic form ⚠
- p.Ala991Val Multiple submitters ⚠
- p.Arg216Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg225Lys Multiple submitters Inborn genetic diseases ⚠
- p.Arg247Cys Multiple submitters
- p.Arg247His Multiple submitters autosomal dominant optic atrophy, classic form
- p.Arg248Lys Multiple submitters
- p.Arg262Leu Multiple submitters
- p.Arg367Gln Multiple submitters ⚠
- p.Arg371Gly Multiple submitters autosomal dominant optic atrophy, classic form ⚠
- p.Arg379Cys Multiple submitters ⚠
- p.Arg379His Multiple submitters ⚠
- p.Arg38Gln Multiple submitters ⚠
- p.Arg401Gln Multiple submitters ⚠
- p.Arg516del Multiple submitters
- p.Arg626His Multiple submitters OPA1-related disorder ⚠
- p.Arg639Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg641Trp Multiple submitters Behr syndrome ⚠
- p.Arg645Gln Multiple submitters ⚠
- p.Arg645Trp Multiple submitters ⚠
- p.Arg682Lys Multiple submitters Inborn genetic diseases ⚠
- p.Arg738Cys Multiple submitters ⚠
- p.Arg788Gln Multiple submitters ⚠
- p.Arg810His Multiple submitters mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) ⚠
- p.Arg873Gln Multiple submitters ⚠
- p.Arg937Cys Multiple submitters ⚠
- p.Arg940His Multiple submitters autosomal dominant optic atrophy, classic form ⚠
- p.Asn654Ser Multiple submitters Inborn genetic diseases
- p.Asn783Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn947Thr Multiple submitters ⚠
- p.Asp198Asn Multiple submitters
- p.Asp321Ala Multiple submitters ⚠
- p.Asp321Gly Multiple submitters ⚠
- p.Asp410Asn Multiple submitters ⚠
- p.Asp410Tyr Multiple submitters ⚠
- p.Asp497Val Multiple submitters autosomal dominant optic atrophy, classic form ⚠
- p.Asp717Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Asp797Glu Multiple submitters Inborn genetic diseases ⚠
- p.Cys430Arg Multiple submitters ⚠
- p.Gln121His Multiple submitters autosomal dominant optic atrophy, classic form
- p.Gln238del Multiple submitters
- p.Gln274Arg Multiple submitters ⚠
- p.Gln340Pro Multiple submitters ⚠
- p.Gln492= Multiple submitters
- p.Gln939Arg Multiple submitters autosomal dominant optic atrophy, classic form ⚠
- p.Gln989Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu297Asp Multiple submitters ⚠
- p.Glu572Val Multiple submitters ⚠
- p.Glu576Asp Multiple submitters optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy ⚠
- p.Glu659Val Multiple submitters retinitis pigmentosa ⚠
- p.Glu681Gly Multiple submitters ⚠
- p.Gly112Ser Multiple submitters ⚠
- p.Gly186Asp Multiple submitters
- p.Gly251Cys Multiple submitters
- p.Gly350Glu Multiple submitters optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy ⚠
- p.Gly389Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly429Arg Multiple submitters OPA1-related disorder ⚠
- p.Gly429Val Multiple submitters ⚠
- p.Gly976Asp Multiple submitters ⚠
- p.Gly976Cys Multiple submitters Inborn genetic diseases ⚠
- p.His392Arg Multiple submitters optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy ⚠
- p.His686Arg Multiple submitters ⚠
- p.Ile104Met Multiple submitters ⚠
- p.Ile152Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ile194Leu Multiple submitters
- p.Ile287Thr Multiple submitters ⚠
- p.Ile40Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile541Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ile656Val Multiple submitters ⚠
- p.Ile688Thr Multiple submitters ⚠
- p.Ile751Val Multiple submitters ⚠
- p.Ile790Met Multiple submitters ⚠
- p.Ile800Val Multiple submitters ⚠
- p.Ile818Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu1011Pro Multiple submitters OPA1-related optic atrophy with or without extraocular features ⚠
- p.Leu17Ile Multiple submitters ⚠
- p.Leu202fs Multiple submitters
- p.Leu277Pro Multiple submitters ⚠
- p.Leu526Pro Multiple submitters ⚠
- p.Leu73Met Multiple submitters ⚠
- p.Leu755_Lys756del Multiple submitters Inborn genetic diseases
- p.Leu93Ser Multiple submitters ⚠
- p.Leu953Phe Multiple submitters ⚠
- p.Lys261fs Multiple submitters
- p.Lys267Arg Multiple submitters ⚠
- p.Lys32Gln Multiple submitters ⚠
- p.Lys544Thr Multiple submitters ⚠
- p.Lys582Gln Multiple submitters ⚠
- p.Lys669Ile Multiple submitters ⚠
- p.Lys711Gln Multiple submitters ⚠
- p.Lys723Thr Multiple submitters ⚠
- p.Lys768Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys834Asn Multiple submitters ⚠
- p.Lys995Arg Multiple submitters ⚠
- p.Lys996_Val997del Multiple submitters
- p.Met322Val Multiple submitters Inborn genetic diseases ⚠
- p.Met449Ile Multiple submitters ⚠
- p.Met449Val Multiple submitters mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) ⚠
- p.Phe169_Asp170delinsTyr Multiple submitters
- p.Phe88Leu Multiple submitters ⚠
- p.Phe972Leu Multiple submitters ⚠
- p.Pro127Leu Multiple submitters OPA1-related disorder ⚠
- p.Pro127Thr Multiple submitters ⚠
- p.Pro167Leu Multiple submitters ⚠
- p.Pro390Ser Multiple submitters ⚠
- p.Pro484Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro84Leu Multiple submitters ⚠
- p.Ser177Arg Multiple submitters ⚠
- p.Ser318Tyr Multiple submitters ⚠
- p.Ser336Arg Multiple submitters ⚠
- p.Ser336Thr Multiple submitters ⚠
- p.Ser37Leu Multiple submitters ⚠
- p.Ser387Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser39Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser533Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser763_Trp769delinsArg Multiple submitters
- p.Ser763Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr214Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr280Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr339Met Multiple submitters autosomal dominant optic atrophy, classic form ⚠
- p.Thr57Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr956Ile Multiple submitters ⚠
- p.Thr95Ala Multiple submitters ⚠
- p.Trp122Arg Multiple submitters OPA1-related optic atrophy with or without extraocular features ⚠
- p.Trp715Arg Multiple submitters ⚠
- p.Tyr146Cys Multiple submitters autosomal dominant optic atrophy, classic form ⚠
- p.Tyr284Cys Multiple submitters autosomal dominant optic atrophy, classic form ⚠
- p.Tyr80His Multiple submitters ⚠
- p.Tyr917His Multiple submitters autosomal dominant optic atrophy, classic form ⚠
- p.Val109Ala Multiple submitters ⚠
- p.Val13Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val140Met Multiple submitters ⚠
- p.Val329Ile Multiple submitters autosomal dominant optic atrophy, classic form ⚠
- p.Val382Ile Multiple submitters ⚠
- p.Val384Gly Multiple submitters ⚠
- p.Val432Ile Multiple submitters ⚠
- p.Val666Leu Multiple submitters ⚠
- p.Val883Ala Multiple submitters ⚠
- p.Val883Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val968Ile Multiple submitters Inborn genetic diseases ⚠
- c.1035+3_1035+4delinsGC Single submitter
- c.1035+3A>G Single submitter
- c.1035+4_1035+5inv Single submitter optic atrophy
- c.1036-14T>A Single submitter
- c.1036-3A>G Single submitter
- c.1149+3A>T Single submitter autosomal dominant optic atrophy, classic form
- c.1150-11_1150-6del Single submitter
- c.1305+3A>G Single submitter
- c.1305+4A>G Single submitter
- c.1306-6G>A Single submitter
- c.1306-6G>C Single submitter
- c.1377+5_1377+6delinsTC Single submitter
- c.1377+6T>A Single submitter autosomal dominant optic atrophy, classic form
- c.1378-3A>G Single submitter
- c.1608+6G>A Single submitter
- c.1609-7A>G Single submitter
- c.1681+11A>G Single submitter
- c.1681+23A>G Single submitter
- c.1681+3A>C Single submitter
- c.1681+6C>G Single submitter
- c.1682-3C>G Single submitter
- c.1754+3A>T Single submitter
- c.1935+15_1935+16delinsTG Single submitter
- c.1936-10_1943dup Single submitter
- c.2012+3A>G Single submitter
- c.2179-10A>G Single submitter
- c.2331+6T>A Single submitter
- c.2332-3C>T Single submitter
- c.2440+3A>G Single submitter
- c.2661+14C>G Single submitter
- c.2661+4A>C Single submitter
- c.2661+6A>G Single submitter
- c.2778+3A>G Single submitter
- c.2778+4A>G Single submitter
- c.2779-10_2779-7delinsT Single submitter
- c.2779-12T>C Single submitter
- c.2779-12T>G Single submitter
- c.2779-9_2779-7del Single submitter
- c.2873-5A>C Single submitter
- c.2983+1207G>A Single submitter Inborn genetic diseases
- c.2983+6T>C Single submitter
- c.2984-1G>C Single submitter
- c.32+24C>G Single submitter Inborn genetic diseases
- c.351+7T>C Single submitter
- c.352-3T>G Single submitter
- c.448+11T>C Single submitter
- c.448+7A>G Single submitter
- c.449-12_449-5del Single submitter
- c.449-3C>T Single submitter
- c.557-1G>C Single submitter
- c.610+368G>C Single submitter
- c.610+3G>T Single submitter
- c.610+5G>C Single submitter
- c.611-8_611-3del Single submitter optic atrophy
- c.678+5G>A Single submitter
- c.679-16T>A Single submitter
- c.679-1G>C Single submitter
- c.679-2A>G Single submitter
- c.679-3C>T Single submitter
- c.679-4G>T Single submitter osteoporosis
- c.843+4dup Single submitter
- c.948+3A>G Single submitter autosomal dominant optic atrophy, classic form
- c.948+5T>G Single submitter
- c.949-3C>A Single submitter
- c.-102G>A Single submitter autosomal dominant optic atrophy, classic form
- c.-144T>C Single submitter autosomal dominant optic atrophy, classic form
- c.-182C>A Single submitter autosomal dominant optic atrophy, classic form
- c.*1_*5delATTAA Single submitter
- c.*1039A>G Single submitter autosomal dominant optic atrophy, classic form
- c.*1131C>T Single submitter autosomal dominant optic atrophy, classic form
- c.*1266G>A Single submitter autosomal dominant optic atrophy, classic form
- c.*1581A>C Single submitter autosomal dominant optic atrophy, classic form
- c.*1815T>C Single submitter autosomal dominant optic atrophy, classic form
- c.*1884C>T Single submitter autosomal dominant optic atrophy, classic form
- c.*1919T>A Single submitter autosomal dominant optic atrophy, classic form
- c.*1920C>A Single submitter autosomal dominant optic atrophy, classic form
- c.*2156A>G Single submitter autosomal dominant optic atrophy, classic form
- c.*2170A>G Single submitter autosomal dominant optic atrophy, classic form
- c.*2234G>A Single submitter autosomal dominant optic atrophy, classic form
- c.*2241A>G Single submitter autosomal dominant optic atrophy, classic form
- c.*2283A>G Single submitter autosomal dominant optic atrophy, classic form
- c.*2416C>T Single submitter autosomal dominant optic atrophy, classic form
- c.*260G>T Single submitter autosomal dominant optic atrophy, classic form
- c.*2692G>A Single submitter autosomal dominant optic atrophy, classic form
- c.*2694T>A Single submitter autosomal dominant optic atrophy, classic form
- c.*2801A>G Single submitter autosomal dominant optic atrophy, classic form
- c.*2839C>T Single submitter autosomal dominant optic atrophy, classic form
- c.*2861A>G Single submitter autosomal dominant optic atrophy, classic form
- c.*2902A>G Single submitter autosomal dominant optic atrophy, classic form
- c.*2909A>T Single submitter autosomal dominant optic atrophy, classic form
- c.*3147G>C Single submitter autosomal dominant optic atrophy, classic form
- c.*322G>A Single submitter autosomal dominant optic atrophy, classic form
- c.*341G>T Single submitter autosomal dominant optic atrophy, classic form
- c.*403T>C Single submitter autosomal dominant optic atrophy, classic form
- c.*427A>T Single submitter autosomal dominant optic atrophy, classic form
- c.*5+1G>T Single submitter
- c.*56C>T Single submitter autosomal dominant optic atrophy, classic form
- c.*614A>G Single submitter autosomal dominant optic atrophy, classic form
- c.*622C>T Single submitter autosomal dominant optic atrophy, classic form
- c.*694C>A Single submitter autosomal dominant optic atrophy, classic form
- c.*743G>C Single submitter autosomal dominant optic atrophy, classic form
- c.*863A>G Single submitter autosomal dominant optic atrophy, classic form
- p.Ala108Val Single submitter ⚠
- p.Ala246Gly Single submitter
- p.Ala258Pro Single submitter
- p.Ala354Gly Single submitter autosomal dominant optic atrophy, classic form ⚠
- p.Ala366Asp Single submitter ⚠
- p.Ala366Pro Single submitter ⚠
- p.Ala550Pro Single submitter autosomal dominant optic atrophy, classic form ⚠
- p.Ala569Gly Single submitter ⚠
- p.Ala624Glu Single submitter ⚠
- p.Ala695Ser Single submitter ⚠
- p.Ala695Val Single submitter ⚠
- p.Ala696Glu Single submitter ⚠
- p.Ala696Val Single submitter ⚠
- p.Ala784Thr Single submitter ⚠
- p.Ala798Val Single submitter ⚠
- p.Ala799Ser Single submitter Inborn genetic diseases ⚠
- p.Ala806Thr Single submitter ⚠
- p.Ala809Gly Single submitter ⚠
- p.Ala862Pro Single submitter OPA1-related optic atrophy
- p.Ala865Gly Single submitter
- p.Ala8Val Single submitter ⚠
- p.Ala91Gly Single submitter ⚠
- p.Ala943Ser Single submitter ⚠
- p.Ala946Thr Single submitter ⚠
- p.Ala991Glu Single submitter ⚠
- p.Arg101Leu Single submitter ⚠
- p.Arg101Ser Single submitter ⚠
- p.Arg212Gly Single submitter inherited retinal dystrophy ⚠
- p.Arg212Ser Single submitter ⚠
- p.Arg225Ile Single submitter ⚠
- p.Arg247Gly Single submitter
- p.Arg248Gly Single submitter
- p.Arg262Cys Single submitter
- p.Arg286Ser Single submitter Inborn genetic diseases ⚠
- p.Arg290Leu Single submitter ⚠
- p.Arg299Gly Single submitter ⚠
- p.Arg367Pro Single submitter ⚠
- p.Arg379Gly Single submitter ⚠
- p.Arg401Trp Single submitter ⚠