Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs118203434
rs118203434
TSC1
A 0.700 CausalMutation CLINVAR Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China. 28065512

2017
dbSNP: rs118203631
rs118203631
TSC1
A 0.700 CausalMutation CLINVAR Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations. 29221145

2017
dbSNP: rs45517308
rs45517308
TSC2
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: rs118203631
rs118203631
TSC1
A 0.700 CausalMutation CLINVAR Those include hamartin(R692X) and hamartin(R786X), stop mutants frequent in TSC patients and hamartin(H732Y) frequent in FCDIIb. 27425891

2016
dbSNP: rs118203631
rs118203631
TSC1
A 0.700 CausalMutation CLINVAR Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development. 27494029

2016
dbSNP: rs45507199
rs45507199
PKD1 ; TSC2
A 0.700 CausalMutation CLINVAR Genotype and brain pathology phenotype in children with tuberous sclerosis complex. 27406250

2016
dbSNP: rs118203631
rs118203631
TSC1
A 0.700 CausalMutation CLINVAR Hemispherectomy for Hemimegalencephaly Due to Tuberous Sclerosis and a Review of the Literature. 26231267

2015
dbSNP: rs45517258
rs45517258
TSC2
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
TSC2
G 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs118203631
rs118203631
TSC1
A 0.700 CausalMutation CLINVAR Monoallelic germline TSC1 mutations are permissive for T lymphocyte development and homeostasis in tuberous sclerosis complex individuals. 24633152

2014
dbSNP: rs45517308
rs45517308
TSC2
G 0.700 CausalMutation CLINVAR Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex. 24271014

2014
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: 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: rs45517258
rs45517258
TSC2
T 0.700 CausalMutation CLINVAR Central TSC2 missense mutations are associated with a reduced risk of infantile spasms. 22867869

2013
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: 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: rs45517258
rs45517258
TSC2
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: rs118203631
rs118203631
TSC1
A 0.700 CausalMutation CLINVAR Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction. 20547222

2010
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: rs118203631
rs118203631
TSC1
A 0.700 CausalMutation CLINVAR Missense mutations to the TSC1 gene cause tuberous sclerosis complex. 18830229

2009
dbSNP: rs45507199
rs45507199
PKD1 ; TSC2
A 0.700 CausalMutation CLINVAR A reliable cell-based assay for testing unclassified TSC2 gene variants. 18854862

2009
dbSNP: rs45517258
rs45517258
TSC2
T 0.700 CausalMutation CLINVAR Three independent mutations in the TSC2 gene in a family with tuberous sclerosis. 19259131

2009
dbSNP: rs45517201
rs45517201
TSC2
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: rs118203631
rs118203631
TSC1
A 0.700 CausalMutation CLINVAR Molecular and clinical analyses of 84 patients with tuberous sclerosis complex. 16981987

2006