ClinVar Miner

Variants from Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry

Location: Japan — Primary collection method: not provided
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 not provided total
0 2 0 0 0 10 12

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination likely pathogenic not provided total
ECHS1 2 0 2
ACACB 0 1 1
ATP7B 0 1 1
FOXRED1 0 1 1
GLRX5 0 1 1
HADHB 0 1 1
HSD3B1 0 1 1
NAGS 0 1 1
NDUFA4 0 1 1
PDPR 0 1 1

Condition and significance breakdown #

Total conditions: 2
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Condition likely pathogenic not provided total
not provided 0 10 10
Leigh syndrome 2 0 2

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