Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45517382
rs45517382
TSC2
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs45517382
rs45517382
TSC2
G 0.800 CausalMutation CLINVAR mTORC1-mediated downregulation of COX2 restrains tumor growth caused by TSC2 deficiency. 27078846

2016
dbSNP: rs45517382
rs45517382
TSC2
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs45517382
rs45517382
TSC2
0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013
dbSNP: rs45517382
rs45517382
TSC2
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs45517382
rs45517382
TSC2
G 0.800 CausalMutation CLINVAR Phospholipase D1 is an effector of Rheb in the mTOR pathway. 18550814

2008
dbSNP: rs45517382
rs45517382
TSC2
G 0.800 CausalMutation CLINVAR The TSC1-TSC2 complex is required for proper activation of mTOR complex 2. 18411301

2008
dbSNP: rs45517382
rs45517382
TSC2
0.800 GeneticVariation UNIPROT Phosphorylation and binding partner analysis of the TSC1-TSC2 complex. 15963462

2005
dbSNP: rs45517382
rs45517382
TSC2
0.800 GeneticVariation UNIPROT Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex. 15595939

2005
dbSNP: rs45517382
rs45517382
TSC2
0.800 GeneticVariation UNIPROT Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity. 15340059

2004
dbSNP: rs45517382
rs45517382
TSC2
G 0.800 CausalMutation CLINVAR Tsc1+ and tsc2+ regulate arginine uptake and metabolism in Schizosaccharomyces pombe. 14718525

2004
dbSNP: rs45517382
rs45517382
TSC2
G 0.800 CausalMutation CLINVAR Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation. 15024740

2004
dbSNP: rs45517382
rs45517382
TSC2
0.800 GeneticVariation UNIPROT Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation. 15024740

2004
dbSNP: rs45517382
rs45517382
TSC2
G 0.800 CausalMutation CLINVAR Tuberous sclerosis complex gene products, Tuberin and Hamartin, control mTOR signaling by acting as a GTPase-activating protein complex toward Rheb. 12906785

2003
dbSNP: rs45517382
rs45517382
TSC2
G 0.800 CausalMutation CLINVAR TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios. 12111193

2002
dbSNP: rs45517382
rs45517382
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: rs45517382
rs45517382
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: rs45517382
rs45517382
TSC2
0.800 GeneticVariation UNIPROT Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. 10533067

1999
dbSNP: rs45517382
rs45517382
TSC2
0.800 GeneticVariation UNIPROT Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. 10205261

1999
dbSNP: rs45517382
rs45517382
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: rs45517382
rs45517382
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: rs45517382
rs45517382
TSC2
0.800 GeneticVariation UNIPROT Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex. 10570911

1999
dbSNP: rs45517382
rs45517382
TSC2
0.800 GeneticVariation UNIPROT Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis. 9829910

1998
dbSNP: rs45517382
rs45517382
TSC2
0.800 GeneticVariation UNIPROT Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene. 10732801

1998
dbSNP: rs45517382
rs45517382
TSC2
0.800 GeneticVariation UNIPROT Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients. 9463313

1998