ClinVar Miner

Variants in gene MT-ATP6

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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 not provided total
17 9 98 57 93 8 261

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Leigh syndrome 11 4 85 47 92 0 238
not provided 4 1 12 10 1 6 32
Mitochondrial complex v (atp synthase) deficiency, mitochondrial type 1 5 0 0 0 0 0 5
Mitochondrial diseases 5 0 0 0 0 0 5
NARP syndrome 4 0 0 0 0 0 4
Bicuspid aortic valve 1 1 0 0 0 0 2
See cases 1 0 1 0 0 0 2
Striatonigral degeneration, infantile, mitochondrial 2 0 0 0 0 0 2
Ataxia and polyneuropathy, adult-onset 1 0 0 0 0 0 1
Cerebellar ataxia 1 0 0 0 0 0 1
Cerebellar ataxia; Gonadal dysgenesis; Progressive spastic paraparesis; Abnormal basal ganglia MRI signal intensity 0 1 0 0 0 0 1
Cerebellar ataxia; Rod-cone dystrophy; Cerebellar atrophy; Tremor 0 1 0 0 0 0 1
Charcot-Marie-Tooth disease 1 0 0 0 0 0 1
Hypertelorism; Bilateral cleft lip and palate; Low-set ears; Premature birth; Wide intermamillary distance; Scrotal hypoplasia; Postaxial hand polydactyly; Camptodactyly of finger 1 0 0 0 0 0 1
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 1 0 0 0 0 0 1
Leber hereditary optic neuropathy 1 0 0 0 0 0 1
Leber hereditary optic neuropathy; NARP syndrome; Mitochondrial DNA-Associated Leigh Syndrome and NARP 0 0 0 0 0 1 1
Mitochondrial myopathy, infantile, transient 0 1 0 0 0 0 1
Mitochondrial-DNA disorder 0 0 0 0 0 1 1
Myopathy, lactic acidosis, and sideroblastic anemia 3 1 0 0 0 0 0 1
Optic neuropathy 0 1 0 0 0 0 1
Progressive cerebellar ataxia 0 1 0 0 0 0 1
Rod-cone dystrophy 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 9 5 85 47 92 0 238
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 6 10 1 0 18
GeneReviews 10 0 0 0 0 0 10
OMIM 9 0 0 0 0 0 9
GenomeConnect, ClinGen 0 0 0 0 0 8 8
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 3 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 3 0 0 0 4
Wellcome Centre for Mitochondrial Research,Newcastle University 4 0 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 0 0 0 0 4
Molecular Biology Laboratory, University of Basrah 1 1 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Center for Neuroscience and Cell Biology,University of Coimbra, Portugal 0 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Inherited Neuropathy Consortium 0 0 1 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 1 0 0 0 0 0 1
Kids Research, The Children's Hospital at Westmead 1 0 0 0 0 0 1
Medical Genetics,CHU Nice 1 0 0 0 0 0 1

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