Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1567533189
rs1567533189
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: rs45517308
rs45517308
G 0.700 CausalMutation CLINVAR Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China. 28065512

2017

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

2016

dbSNP: rs45517258
rs45517258
T 0.700 CausalMutation CLINVAR A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex. 25432535

2015

dbSNP: rs45517308
rs45517308
G 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015

dbSNP: rs45517308
rs45517308
G 0.700 CausalMutation CLINVAR Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex. 24271014

2014

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

2013

dbSNP: rs45516293
rs45516293
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: rs45517258
rs45517258
T 0.700 CausalMutation CLINVAR Central TSC2 missense mutations are associated with a reduced risk of infantile spasms. 22867869

2013

dbSNP: rs45516293
rs45516293
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: rs45507199
rs45507199
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: rs45517258
rs45517258
T 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
A 0.700 CausalMutation CLINVAR Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex. 20165957

2010

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

2009

dbSNP: rs45517258
rs45517258
T 0.700 CausalMutation CLINVAR Three independent mutations in the TSC2 gene in a family with tuberous sclerosis. 19259131

2009

dbSNP: rs45517201
rs45517201
C 0.700 GeneticVariation CLINVAR 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: rs45507199
rs45507199
A 0.700 CausalMutation CLINVAR Molecular and clinical analyses of 84 patients with tuberous sclerosis complex. 16981987

2006

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

2006

dbSNP: rs45517258
rs45517258
T 0.700 CausalMutation CLINVAR Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. 17120248

2006

dbSNP: rs45507199
rs45507199
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
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: rs45517258
rs45517258
T 0.700 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: rs45517115
rs45517115
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

dbSNP: rs45517258
rs45517258
T 0.700 CausalMutation CLINVAR Here, we report one novel mutation of TSC1 (Q897X) and five novel mutations of TSC2 (c.336+1 G>A, L345R, E700K, R905G, K914K) identified in Japanese patients with TSC. 12015165

2002

dbSNP: rs137854052
rs137854052
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