Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203434
rs118203434
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
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: rs118203631
rs118203631
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
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: rs118203631
rs118203631
A 0.700 CausalMutation CLINVAR Hemispherectomy for Hemimegalencephaly Due to Tuberous Sclerosis and a Review of the Literature. 26231267

2015

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

2010

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

2009

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

2006

dbSNP: rs118203434
rs118203434
A 0.700 CausalMutation CLINVAR Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis. 15121797

2004

dbSNP: rs118203434
rs118203434
A 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: rs118203434
rs118203434
A 0.700 CausalMutation CLINVAR Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects. 10533066

1999

dbSNP: rs118203434
rs118203434
A 0.700 CausalMutation CLINVAR Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE. 10363127

1998

dbSNP: rs118203631
rs118203631
A 0.700 CausalMutation CLINVAR Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. 9242607

1997

dbSNP: rs1064794132
rs1064794132
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554815914
rs1554815914
GC 0.700 GeneticVariation CLINVAR

dbSNP: rs537585211
rs537585211
0.010 GeneticVariation BEFREE Finally, phosphorylation defective TSC2 mutants (S932A and S939A single mutants and a S932A/S939A double mutant) failed to upregulate mTORC1 activity in the presence of translation inhibitors, suggesting that activation of mTORC1 by translation inhibitors is mediated by PKC-δ phosphorylation of TSC2 at S932/S939, which inactivates TSC. 30684133

2019

dbSNP: rs118203673
rs118203673
0.010 GeneticVariation BEFREE A heterozygous nonsense TSC1 mutation g.132902703C>T (c.2293C>T, p.Gln765Ter) was identified in a patient with TSC and KC. 29261847

2017

dbSNP: rs185159716
rs185159716
0.010 GeneticVariation BEFREE In total, 4 missense mutations were found in 3 patients with TC/AC, including mutations in exon 48 of mTOR (c.6667C>T), exon 21 of tuberous sclerosis complex (TSC) 1 (c.2765G>A), and exons 12 (c.1265C>T) and 19 (c.2148C>T) of TSC2. 28789352

2017

dbSNP: rs865808591
rs865808591
0.010 GeneticVariation BEFREE Here, we report a pathogenic TSC2 variant, c.1864C>T, p.(Arg622Trp), associated with a mild phenotype, with most carriers meeting fewer than two major clinical diagnostic criteria for TSC. 28211972

2017

dbSNP: rs118203542
rs118203542
0.010 GeneticVariation BEFREE This is the first report of TSC1 R509X mutation in a Chinese family, which might deepen our insight into the clinical and molecular pathogenesis of tuberous sclerosis complex. 25900779

2015

dbSNP: rs1301051974
rs1301051974
0.010 GeneticVariation BEFREE We report an infant who presented with seizures and cardiac rhabdomyomas and whose diagnosis of TS was confirmed by a TSC2 C1605T nonsense mutation. 21418539

2011