Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934872
rs28934872
TSC2
A 0.800 CausalMutation CLINVAR Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis. 26703369

2016
dbSNP: rs28934872
rs28934872
TSC2
A 0.800 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 0.800 CausalMutation CLINVAR A reliable cell-based assay for testing unclassified TSC2 gene variants. 18854862

2009
dbSNP: rs28934872
rs28934872
TSC2
A 0.800 CausalMutation CLINVAR Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex. 18302728

2008
dbSNP: rs28934872
rs28934872
TSC2
A 0.800 CausalMutation CLINVAR Pam (Protein associated with Myc) functions as an E3 ubiquitin ligase and regulates TSC/mTOR signaling. 18308511

2008
dbSNP: rs28934872
rs28934872
TSC2
A 0.800 CausalMutation CLINVAR Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. 17304050

2007
dbSNP: rs28934872
rs28934872
TSC2
A 0.800 CausalMutation CLINVAR Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex. 15595939

2005
dbSNP: rs28934872
rs28934872
TSC2
A 0.800 CausalMutation CLINVAR Phosphorylation and binding partner analysis of the TSC1-TSC2 complex. 15963462

2005
dbSNP: rs28934872
rs28934872
TSC2
0.800 GeneticVariation UNIPROT Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex. 15595939

2005
dbSNP: rs28934872
rs28934872
TSC2
A 0.800 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
0.800 GeneticVariation UNIPROT Phosphorylation and binding partner analysis of the TSC1-TSC2 complex. 15963462

2005
dbSNP: rs28934872
rs28934872
TSC2
0.800 GeneticVariation UNIPROT Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation. 15024740

2004
dbSNP: rs28934872
rs28934872
TSC2
0.800 GeneticVariation UNIPROT Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity. 15340059

2004
dbSNP: rs28934872
rs28934872
TSC2
0.800 GeneticVariation UNIPROT Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling. 12271141

2002
dbSNP: rs28934872
rs28934872
TSC2
A 0.800 CausalMutation CLINVAR TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex. 11741832

2001
dbSNP: rs28934872
rs28934872
TSC2
0.800 GeneticVariation UNIPROT Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations. 10607950

2000
dbSNP: rs28934872
rs28934872
TSC2
A 0.800 CausalMutation CLINVAR Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis. 10823953

2000
dbSNP: rs28934872
rs28934872
TSC2
0.800 GeneticVariation UNIPROT Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2. 10735580

1999
dbSNP: rs28934872
rs28934872
TSC2
A 0.800 CausalMutation CLINVAR Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex. 10570911

1999
dbSNP: rs28934872
rs28934872
TSC2
0.800 GeneticVariation UNIPROT Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. 10205261

1999
dbSNP: rs28934872
rs28934872
TSC2
0.800 GeneticVariation UNIPROT Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex. 10570911

1999
dbSNP: rs28934872
rs28934872
TSC2
0.800 GeneticVariation UNIPROT Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. 10533067

1999
dbSNP: rs28934872
rs28934872
TSC2
0.800 GeneticVariation UNIPROT Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst. 10069705

1999
dbSNP: rs28934872
rs28934872
TSC2
A 0.800 CausalMutation CLINVAR Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. 10205261

1999
dbSNP: rs28934872
rs28934872
TSC2
0.800 GeneticVariation UNIPROT Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene. 10732801

1998