ClinVar Miner

Variants in gene MT-ND5

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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
15 9 129 62 107 1 14 307

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Leigh syndrome 2 3 112 48 104 0 3 269
not provided 1 0 7 13 2 0 2 25
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 7 3 3 0 0 0 6 14
Leber optic atrophy 11 2 1 0 0 0 4 14
Mitochondrial disease 3 5 4 1 1 0 0 14
Leigh syndrome due to mitochondrial complex I deficiency 5 0 0 0 0 0 0 5
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency 1 0 1 0 0 0 0 2
not specified 0 0 1 0 1 0 0 2
Autosomal recessive early-onset Parkinson disease 6 0 0 0 0 0 1 0 1
Hearing impairment; Microcephaly; Developmental delay; Congenital cardiomyopathy 0 0 1 0 0 0 0 1
Leber optic atrophy; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; Mitochondrial DNA-Associated Leigh Syndrome and NARP 0 0 0 0 0 0 1 1
MERRF syndrome 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 5 4 113 48 104 0 0 274
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 4 13 2 0 0 20
GeneReviews 0 0 1 0 0 0 11 12
OMIM 10 0 0 0 0 1 0 11
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen 2 4 3 1 1 0 0 11
Mendelics 5 0 0 0 1 0 0 6
MGZ Medical Genetics Center 1 0 3 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Wellcome Centre for Mitochondrial Research, Newcastle University 2 0 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 1
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal 0 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 0 1
3billion 0 1 0 0 0 0 0 1

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