ClinVar Miner

Variants from The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University

Location: China  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
9 18 0 0 0 27

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic total
TK2 2 2 4
CLCN1 0 3 3
HADHB 0 3 3
IBA57 3 0 3
FOXRED1 2 0 2
HIBCH 1 1 2
NDUFAF5 0 2 2
TPK1 0 2 2
ALDH5A1 0 1 1
CARS2 0 1 1
FBXL4 0 1 1
NDUFAF6 1 0 1
NDUFV1 0 1 1
POLG, POLGARF 0 1 1

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic total
Leigh syndrome 2 3 5
Mitochondrial DNA depletion syndrome, myopathic form 2 2 4
Batten-Turner congenital myopathy 0 3 3
Mitochondrial trifunctional protein deficiency 0 3 3
Multiple mitochondrial dysfunctions syndrome 3 3 0 3
Beta-hydroxyisobutyryl-CoA deacylase deficiency 1 1 2
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 0 2 2
Combined oxidative phosphorylation defect type 27 0 1 1
Mitochondrial DNA depletion syndrome 13 0 1 1
Mitochondrial encephalopathy 1 0 1
Mitochondrial neurogastrointestinal encephalomyopathy 0 1 1
Succinate-semialdehyde dehydrogenase deficiency 0 1 1

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