RS118203542 TSC1
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What This Variant Does
"CLNSIG=5
Associated Conditions
Malignant tumor of urinary bladder
Tuberous sclerosis syndrome
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Malignant tumor of urinary bladder
Tuberous sclerosis syndrome
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Population Frequencies
gnomAD ALL
100%
Other Variants in TSC1