ClinVar Miner

Variants from Division of Medical Genetics; Sainte-Justine Hospital

Location: Canada — Primary collection method: literature only
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
18 0 0 0 0 18

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic total
TBC1D24 18 18

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic total
DOORS syndrome 8 8
Early infantile epileptic encephalopathy 16 3 3
Myoclonic epilepsy, familial infantile 3 3
Deafness, autosomal recessive 86 2 2
Deafness, autosomal dominant 65 1 1
Progressive myoclonus epilepsy with ataxia 1 1

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