Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854882
rs137854882
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.800 CausalMutation CLINVAR

dbSNP: rs28934872
rs28934872
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		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
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		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
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		A 0.800 CausalMutation CLINVAR A reliable cell-based assay for testing unclassified TSC2 gene variants. 18854862

2009
dbSNP: rs28934872
rs28934872
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		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
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		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
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		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
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		A 0.800 CausalMutation CLINVAR Phosphorylation and binding partner analysis of the TSC1-TSC2 complex. 15963462

2005
dbSNP: rs28934872
rs28934872
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		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
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		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
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		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
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		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
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		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
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		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
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		A 0.800 CausalMutation CLINVAR Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients. 9463313

1998
dbSNP: rs28934872
rs28934872
TSC2
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		A 0.800 CausalMutation CLINVAR

dbSNP: rs45438205
rs45438205
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.800 CausalMutation CLINVAR Multifocal micronodular pneumocyte hyperplasia (MMPH) in a patient with tuberous sclerosis-evidence for long term stability. 28149746

2017
dbSNP: rs45438205
rs45438205
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.800 CausalMutation CLINVAR Careful clinical observation continues to improve understanding of the phenotype in individuals with tuberous sclerosis complex. 25039834

2014
dbSNP: rs45438205
rs45438205
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: rs45438205
rs45438205
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.800 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: rs45438205
rs45438205
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: rs45438205
rs45438205
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.800 CausalMutation CLINVAR PGD on a recombinant allele: crossover between the TSC2 gene and 'linked' markers impairs accurate diagnosis. 18792920

2008
dbSNP: rs45438205
rs45438205
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		T 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: rs45438205
rs45438205
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: rs45438205
rs45438205
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.800 CausalMutation CLINVAR Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. 8824881

1996