Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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