Gene: TSC2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854307
rs137854307
TSC2
A 0.700 CausalMutation CLINVAR Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. 10533067

1999
dbSNP: rs137854307
rs137854307
TSC2
A 0.700 CausalMutation CLINVAR Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. 11112665

2001
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
A 0.700 CausalMutation CLINVAR

dbSNP: rs28934872
rs28934872
TSC2
A 0.700 CausalMutation CLINVAR Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. 21309039

2011
dbSNP: rs28934872
rs28934872
TSC2
A 0.700 CausalMutation CLINVAR TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex. 11741832

2001
dbSNP: rs28934872
rs28934872
TSC2
A 0.700 CausalMutation CLINVAR Central TSC2 missense mutations are associated with a reduced risk of infantile spasms. 22867869

2013
dbSNP: rs28934872
rs28934872
TSC2
A 0.700 CausalMutation CLINVAR Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex. 15483652

2005
dbSNP: rs28934872
rs28934872
TSC2
A 0.700 CausalMutation CLINVAR Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients. 9463313

1998
dbSNP: rs45486196
rs45486196
TSC2
A 0.700 GeneticVariation CLINVAR Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. 21309039

2011
dbSNP: rs45486196
rs45486196
TSC2
A 0.700 GeneticVariation CLINVAR TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex. 11741832

2001
dbSNP: rs45486196
rs45486196
TSC2
A 0.700 GeneticVariation CLINVAR Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. 10205261

1999
dbSNP: rs45486196
rs45486196
TSC2
A 0.700 GeneticVariation CLINVAR Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex. 15483652

2005
dbSNP: rs45517182
rs45517182
TSC2
A 0.700 CausalMutation CLINVAR Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. 17304050

2007
dbSNP: rs45517182
rs45517182
TSC2
A 0.700 CausalMutation CLINVAR [Mutation screening and prenatal diagnosis of tuberous sclerosis complex]. 21811971

2011
dbSNP: rs45517259
rs45517259
TSC2
A 0.700 CausalMutation CLINVAR Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. 17120248

2006
dbSNP: rs45517259
rs45517259
TSC2
A 0.700 CausalMutation CLINVAR Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex. 12015165

2002
dbSNP: rs45517259
rs45517259
TSC2
A 0.700 CausalMutation CLINVAR Central TSC2 missense mutations are associated with a reduced risk of infantile spasms. 22867869

2013
dbSNP: rs45517259
rs45517259
TSC2
A 0.700 CausalMutation CLINVAR A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex. 25432535

2015
dbSNP: rs45517259
rs45517259
TSC2
A 0.700 CausalMutation CLINVAR Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. 21309039

2011
dbSNP: rs45517259
rs45517259
TSC2
A 0.700 CausalMutation CLINVAR Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. 10533067

1999
dbSNP: rs45517259
rs45517259
TSC2
A 0.700 CausalMutation CLINVAR TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex. 11741832

2001
dbSNP: rs45517259
rs45517259
TSC2
A 0.700 CausalMutation CLINVAR Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds. 21332470

2012
dbSNP: rs45517395
rs45517395
TSC2
A 0.700 CausalMutation CLINVAR Tuberous sclerosis complex with a single brain lesion on MRI mimicking focal cortical dysplasia. 20399389

2010
dbSNP: rs45517395
rs45517395
TSC2
A 0.700 CausalMutation CLINVAR Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. 25599672

2015
dbSNP: rs45517395
rs45517395
TSC2
A 0.700 CausalMutation CLINVAR Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex. 21910228

2011