ClinVar Miner

Variants from Tuberous sclerosis database (TSC2)

Location: United Kingdom — Primary collection method: curation
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 0 0 0 0 1618 1618

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination not provided total
TSC2 1613 1613
PKD1, TSC2 5 5

Condition and significance breakdown #

Total conditions: 6
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Condition not provided total
Tuberous sclerosis syndrome 1591 1591
Lymphangiomyomatosis 21 21
Lymphangiomyomatosis; Tuberous sclerosis syndrome 19 19
Autism spectrum disorder 12 12
not provided 3 3
Neoplasm of brain 1 1

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