TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Disease: TUBEROUS SCLEROSIS 2 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45517258
rs45517258
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		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: rs45517258
rs45517258
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.800 CausalMutation CLINVAR A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex. 25432535 2015
dbSNP: rs45517258
rs45517258
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs45517258
rs45517258
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317 2013
dbSNP: rs45517258
rs45517258
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs45517258
rs45517258
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.800 CausalMutation CLINVAR Central TSC2 missense mutations are associated with a reduced risk of infantile spasms. 22867869 2013
dbSNP: rs45517258
rs45517258
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.800 CausalMutation CLINVAR Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation. 22805177 2013
dbSNP: rs45517258
rs45517258
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.800 CausalMutation CLINVAR Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. 21309039 2011
dbSNP: rs45517258
rs45517258
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.800 CausalMutation CLINVAR Three independent mutations in the TSC2 gene in a family with tuberous sclerosis. 19259131 2009
dbSNP: rs45517258
rs45517258
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.800 CausalMutation CLINVAR Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. 17120248 2006
dbSNP: rs45517258
rs45517258
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 GeneticVariation UNIPROT Phosphorylation and binding partner analysis of the TSC1-TSC2 complex. 15963462 2005
dbSNP: rs45517258
rs45517258
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 GeneticVariation UNIPROT Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex. 15595939 2005
dbSNP: rs45517258
rs45517258
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.800 CausalMutation CLINVAR Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. 15798777 2005
dbSNP: rs45517258
rs45517258
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 GeneticVariation UNIPROT Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity. 15340059 2004
dbSNP: rs45517258
rs45517258
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 GeneticVariation UNIPROT Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation. 15024740 2004
dbSNP: rs45517258
rs45517258
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.800 CausalMutation CLINVAR A 34 bp deletion within TSC2 is a rare polymorphism, not a pathogenic mutation. 14641237 2003
dbSNP: rs45517258
rs45517258
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.800 CausalMutation CLINVAR Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex. 12015165 2002
dbSNP: rs45517258
rs45517258
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		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: rs45517258
rs45517258
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		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: rs45517258
rs45517258
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.800 CausalMutation CLINVAR 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: rs45517258
rs45517258
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.800 CausalMutation CLINVAR Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. 10205261 1999
dbSNP: rs45517258
rs45517258
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 GeneticVariation UNIPROT Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex. 10570911 1999
dbSNP: rs45517258
rs45517258
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 GeneticVariation UNIPROT Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. 10205261 1999
dbSNP: rs45517258
rs45517258
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		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: rs45517258
rs45517258
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 GeneticVariation UNIPROT Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. 10533067 1999