Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45517258
rs45517258
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
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
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
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
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
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
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
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
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
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
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
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
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
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
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
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
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
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
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
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
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
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
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.800 CausalMutation CLINVAR Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients. 9463313

1998
dbSNP: rs45517258
rs45517258
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.800 CausalMutation CLINVAR Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis. 9829910

1998
dbSNP: rs45517258
rs45517258
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		G 0.800 CausalMutation CLINVAR