ClinVar Miner

Variants from Center for Neuroscience and Cell Biology,University of Coimbra, Portugal

Location: Portugal — Primary collection method: clinical testing
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 total
0 9 21 0 0 30

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination likely pathogenic uncertain significance total
MT-CYB 2 4 6
MT-ND4 0 5 5
MEF2C 1 1 2
MT-TS1 0 2 2
MT-TV 0 2 2
NDUFAF5 2 0 2
MT-ATP6 1 0 1
MT-ATP8 1 0 1
MT-CO1 0 1 1
MT-CO3 1 0 1
MT-ND1 0 1 1
MT-ND2 0 1 1
MT-ND5 0 1 1
MT-ND6 0 1 1
MT-TE 0 1 1
MT-TL1 0 1 1
SURF1 1 0 1

Condition and significance breakdown #

Total conditions: 28
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Condition likely pathogenic uncertain significance total
Developmental delay 0 3 3
Epilepsy; Encephalopathy; Dementia; Muscular hypotonia; Developmental delay; Calcification of extrapyramidal basal ganglia 0 3 3
Hearing impairment; Macrocephalus; Developmental delay 1 2 3
Hearing impairment; Microcephaly; Developmental delay; Congenital cardiomyopathy 0 3 3
Leigh syndrome 1 2 3
Epilepsy; Muscular hypotonia of the trunk; Developmental delay; Hyperlactaemia 0 2 2
Frontotemporal dementia 1 1 2
Leber plus disease 2 0 2
Mitochondrial cytopathy 0 2 2
Optic neuropathy 2 0 2
Dystonia 0 1 1
Epilepsy; Bilateral lesions of basal ganglia 1 0 1
Epilepsy; Developmental delay 0 1 1
Epilepsy; Mitochondrial encephalopathy; Developmental delay 1 0 1
Global developmental delay; Generalized hypotonia 0 1 1
Hearing impairment; Ataxia; Peripheral neuropathy 0 1 1
Leber's optic atrophy 0 1 1
Mitochondrial myopathy 0 1 1
Muscular Diseases 0 1 1
Myopia; Hepatic steatosis; Hepatitis; Fibrosis 0 1 1
Neuromuscular Diseases; Developmental delay 0 1 1
Optic atrophy 0 1 1
Parkinsonism-plus 0 1 1
Progressive external ophthalmoplegia 0 1 1
Sensorineural hearing loss; Reduced visual acuity; Ataxia; Atrophy of the brain and cerebellum 0 1 1
Spinocerebellar ataxia, autosomal recessive 20 0 1 1
Sudden death; Episodic vomiting; Mild liver congestion 0 1 1
not specified 0 1 1

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