ClinVar Miner

Variants in gene OPA1

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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
78 30 110 64 38 1 3 291

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 54 26 75 4 12 0 0 167
not specified 0 0 11 34 29 0 0 73
Optic Atrophy, Dominant 0 0 29 29 11 0 0 69
Dominant hereditary optic atrophy 18 2 1 0 2 0 2 24
Autosomal dominant optic atrophy plus syndrome 9 1 2 0 0 0 0 12
Abortive cerebellar ataxia 5 0 0 0 0 0 0 5
Mitochondrial diseases 5 0 0 0 0 0 0 5
Inborn genetic diseases 2 0 0 0 0 0 0 2
See cases 1 1 0 0 0 0 0 2
Abnormality of brain morphology 0 1 0 0 0 0 0 1
Abortive cerebellar ataxia; Glaucoma, normal tension, susceptibility to; Autosomal dominant optic atrophy plus syndrome; Dominant hereditary optic atrophy; 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
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) 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: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
GeneDx 25 14 34 30 22 0 0 125
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 29 3 35 2 22 0 0 91
Illumina Clinical Services Laboratory,Illumina 0 0 29 29 11 0 0 69
Athena Diagnostics Inc 14 5 12 1 12 0 0 44
OMIM 22 0 0 0 0 1 0 23
CeGaT Praxis fuer Humangenetik Tuebingen 0 6 9 0 0 0 0 15
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 3 4 7 0 0 14
PreventionGenetics 0 0 0 2 9 0 0 11
GeneReviews 10 0 0 0 0 0 0 10
Wellcome Centre for Mitochondrial Research,Newcastle University 5 0 0 0 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 2 0 1 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Ambry Genetics 2 0 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 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
Mendelics 0 1 0 0 0 0 0 1
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
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
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 1 0 0 0 0 1

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