Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1430119276
rs1430119276
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: rs28934872
rs28934872
0.010 GeneticVariation BEFREE Combined with her clinical presentation, the patient was diagnosed with TSC after molecular analysis revealed she had inherited the TSC2 c.1832G>A (p.R611Q) mutation from her mother. 31083211

2019

dbSNP: rs45517278
rs45517278
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: rs754504918
rs754504918
0.010 GeneticVariation BEFREE Combined with her clinical presentation, the patient was diagnosed with TSC after molecular analysis revealed she had inherited the TSC2 c.1832G>A (p.R611Q) mutation from her mother. 31083211

2019

dbSNP: rs397514914
rs397514914
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: rs397515225
rs397515225
0.010 GeneticVariation BEFREE To the best of our knowledge, this is the first report of the c.3599G>C (p.R1200P) variant in exon 29 of the TSC2 gene related to a severe clinical course and multiple kidney transplants in a patient with TSC. 29308833

2017

dbSNP: rs45469298
rs45469298
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: rs45509500
rs45509500
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: rs45514100
rs45514100
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: rs45517234
rs45517234
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: rs752603642
rs752603642
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: rs764288120
rs764288120
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: rs1060500931
rs1060500931
0.010 GeneticVariation BEFREE Family 2 had two children with tuberous sclerosis (TSC2 C1327T) and two healthy children. 22884613

2012

dbSNP: rs1114167462
rs1114167462
0.010 GeneticVariation BEFREE Family 2 had two children with tuberous sclerosis (TSC2 C1327T) and two healthy children. 22884613

2012

dbSNP: rs1459518095
rs1459518095
0.010 GeneticVariation BEFREE 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: rs397514916
rs397514916
0.010 GeneticVariation BEFREE 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: rs45438205
rs45438205
0.010 GeneticVariation BEFREE Functional analysis of the TSC2 R1200W variant, and four other TSC2 missense variants associated with a mild TSC phenotype, confirmed that the changes disrupted the TSC1-TSC2 function. 21332470

2012

dbSNP: rs993614997
rs993614997
0.010 GeneticVariation BEFREE 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: rs376285784
rs376285784
0.010 GeneticVariation BEFREE One TSC2 mutation, R505Q, was identified in a patient with intellectual disability, seizures and autistic spectrum disorder but who did not fulfil the diagnostic criteria for TSC. 21407264

2011

dbSNP: rs45517423
rs45517423
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: rs45517259
rs45517259
0.010 GeneticVariation BEFREE Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. 17120248

2006

dbSNP: rs45487497
rs45487497
0.010 GeneticVariation BEFREE Subtle, non-truncating mutations identified in patients with tuberous sclerosis and located within the putative binding regions of hamartin (N198_F199delinsI;593-595delACT) or tuberin (G294E and I365del), abolished or dramatically reduced interaction of the proteins as assessed by yeast two-hybrid assays and by co-immunoprecipitation of the full-length proteins from Cos7 cells. 11741833

2001

dbSNP: rs45517305
rs45517305
0.010 GeneticVariation BEFREE Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients. Mutations in brief no. 119. Online. 10215407

1998