Gene: TSC2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854218
rs137854218
PKD1 ; TSC2
C 0.700 CausalMutation CLINVAR

dbSNP: rs45507199
rs45507199
PKD1 ; TSC2
A 0.700 CausalMutation CLINVAR Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex. 20165957

2010
dbSNP: rs45507199
rs45507199
PKD1 ; TSC2
A 0.700 CausalMutation CLINVAR Molecular and clinical analyses of 84 patients with tuberous sclerosis complex. 16981987

2006
dbSNP: rs45507199
rs45507199
PKD1 ; TSC2
A 0.700 CausalMutation CLINVAR A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism. 16237225

2005
dbSNP: rs45507199
rs45507199
PKD1 ; TSC2
A 0.700 CausalMutation CLINVAR Central TSC2 missense mutations are associated with a reduced risk of infantile spasms. 22867869

2013
dbSNP: rs45507199
rs45507199
PKD1 ; TSC2
A 0.700 CausalMutation CLINVAR Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene. 10732801

1998
dbSNP: rs45507199
rs45507199
PKD1 ; TSC2
A 0.700 CausalMutation CLINVAR Genotype and brain pathology phenotype in children with tuberous sclerosis complex. 27406250

2016
dbSNP: rs45507199
rs45507199
PKD1 ; TSC2
A 0.700 CausalMutation CLINVAR Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations. 16114042

2005
dbSNP: rs45507199
rs45507199
PKD1 ; TSC2
A 0.700 CausalMutation CLINVAR Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. 21309039

2011
dbSNP: rs45507199
rs45507199
PKD1 ; TSC2
A 0.700 CausalMutation CLINVAR A reliable cell-based assay for testing unclassified TSC2 gene variants. 18854862

2009
dbSNP: rs45517423
rs45517423
PKD1 ; TSC2
0.010 GeneticVariation BEFREE We used these assays to compare the effects of 9 different TSC2 variants (S132C, F143L, A196T, C244R, Y598H, I820del, T993M, L1511H and R1772C) identified in individuals with symptoms of TSC from 4 different families. 18302728

2008
dbSNP: rs137854052
rs137854052
TSC2
GC 0.700 CausalMutation CLINVAR Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. 11112665

2001
dbSNP: rs137854052
rs137854052
TSC2
GC 0.700 CausalMutation CLINVAR Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis. 11520734

2001
dbSNP: rs137854106
rs137854106
TSC2
C 0.700 CausalMutation CLINVAR Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis. 11520734

2001
dbSNP: rs137854106
rs137854106
TSC2
C 0.700 CausalMutation CLINVAR Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. 11112665

2001
dbSNP: rs137854329
rs137854329
TSC2
CT 0.700 CausalMutation CLINVAR

dbSNP: rs1567533189
rs1567533189
TSC2
G 0.700 CausalMutation CLINVAR Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations. 30763456

2019
dbSNP: rs45460895
rs45460895
TSC2
A 0.700 CausalMutation CLINVAR

dbSNP: rs45483392
rs45483392
TSC2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs45488500
rs45488500
TSC2
T 0.700 CausalMutation CLINVAR

dbSNP: rs45516293
rs45516293
TSC2
C 0.700 CausalMutation CLINVAR Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. 17120248

2006
dbSNP: rs45516293
rs45516293
TSC2
C 0.700 CausalMutation CLINVAR Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported. 23389244

2013
dbSNP: rs45516293
rs45516293
TSC2
C 0.700 CausalMutation CLINVAR A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex. 11403047

2001
dbSNP: rs45516293
rs45516293
TSC2
C 0.700 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: rs45517115
rs45517115
TSC2
T 0.700 CausalMutation CLINVAR TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios. 12111193

2002