ClinVar Miner

Variants in gene OPA1

See also:
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
96 35 145 80 74 1 3 390

Condition and significance breakdown #

Total conditions: 19
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 69 26 78 39 37 0 0 234
Dominant hereditary optic atrophy 20 5 57 16 40 0 2 137
not specified 0 0 11 34 29 0 0 73
Autosomal dominant optic atrophy plus syndrome 9 1 2 0 0 0 0 12
Retinal dystrophy 2 2 3 0 0 0 0 7
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
Optic Atrophy, Dominant 0 0 2 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: 29
Download table as spreadsheet
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 19 6 12 1 15 0 0 53
CeGaT Praxis fuer Humangenetik Tuebingen 17 5 14 3 0 0 0 39
Invitae 0 0 0 20 14 0 0 34
OMIM 22 0 0 0 0 1 0 23
Mayo Clinic Genetic Testing 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
Blueprint Genetics 2 2 3 0 0 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 2 0 2 0 0 5
Wellcome Centre for Mitochondrial Research,Newcastle University 5 0 0 0 0 0 0 5
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
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
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
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.