ClinVar Miner

Variants in gene OPA1

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
112 46 162 85 76 1 3 435

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 80 30 88 45 37 0 0 262
Autosomal dominant optic atrophy classic form 22 10 59 16 40 0 2 145
not specified 0 0 11 33 32 0 0 74
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 9 2 4 0 0 0 0 15
Abortive cerebellar ataxia 5 2 5 1 0 0 0 12
Retinal dystrophy 2 2 3 0 0 0 0 7
Inborn genetic diseases 4 0 1 0 0 0 0 5
Mitochondrial diseases 5 0 0 0 0 0 0 5
Abortive cerebellar ataxia; Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy; Autosomal dominant optic atrophy classic form 1 0 1 0 0 0 0 2
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) 1 0 1 0 0 0 0 2
Optic Atrophy, Dominant 0 0 2 0 0 0 0 2
See cases 1 1 0 0 0 0 0 2
none provided 0 0 0 0 2 0 0 2
Abnormality of brain morphology 0 1 0 0 0 0 0 1
Abortive cerebellar ataxia; Glaucoma, normal tension, susceptibility to; Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy; Autosomal dominant optic atrophy classic form; Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) 0 0 1 0 0 0 0 1
Elevated serum creatine phosphokinase; Muscle weakness; Ptosis; Hypomimic face; Hepatic steatosis; EMG abnormality; EMG: myopathic abnormalities; EMG: myotonic runs; Progressive proximal muscle weakness 0 0 1 0 0 0 0 1
Glaucoma, normal tension, susceptibility to 0 0 0 0 0 1 0 1
Neurodevelopmental disorder 1 0 0 0 0 0 0 1
Ocular impairment 1 0 0 0 0 0 0 1
Optic atrophy 0 0 0 0 0 0 1 1
Optic nerve hypoplasia 0 0 1 0 0 0 0 1
Osteoporosis; Myotonia; Mildly elevated creatine phosphokinase; Limb pain 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
GeneDx 25 14 34 42 38 0 0 153
Illumina Clinical Services Laboratory,Illumina 0 0 55 16 40 0 0 111
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 29 3 35 2 22 0 0 91
Athena Diagnostics Inc 22 8 14 1 20 0 0 65
Invitae 5 1 8 26 14 0 0 54
CeGaT Praxis fuer Humangenetik Tuebingen 23 6 14 4 0 0 0 47
OMIM 22 0 0 0 0 1 0 23
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 4 7 0 0 14
PreventionGenetics, PreventionGenetics 0 0 0 2 9 0 0 11
Mendelics 2 4 3 0 1 0 0 10
GeneReviews 10 0 0 0 0 0 0 10
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 5 1 0 0 0 8
Blueprint Genetics 2 2 3 0 0 0 0 7
Baylor Genetics 0 1 4 0 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 2 0 2 0 0 5
Ambry Genetics 4 0 1 0 0 0 0 5
Wellcome Centre for Mitochondrial Research,Newcastle University 5 0 0 0 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 0 0 0 0 0 0 5
Institute of Medical Molecular Genetics, University of Zurich 0 3 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 0 0 2
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 0 2 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 1 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 0 1
National Institute on Deafness and Communication Disorders,National Institutes of Health 0 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 0 0 1
Human Genetics - Radboudumc,Radboudumc 0 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 1
HSP Biomedical Diagnostics Department,Hospital San Pedro 0 1 0 0 0 0 0 1

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