Gene: TSC2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060500931
rs1060500931
TSC2
0.010 GeneticVariation BEFREE Family 2 had two children with tuberous sclerosis (TSC2 C1327T) and two healthy children. 22884613

2012
dbSNP: rs1114167462
rs1114167462
TSC2
0.010 GeneticVariation BEFREE Family 2 had two children with tuberous sclerosis (TSC2 C1327T) and two healthy children. 22884613

2012
dbSNP: rs137854052
rs137854052
TSC2
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
dbSNP: rs137854052
rs137854052
TSC2
GC 0.700 CausalMutation CLINVAR Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis. 11520734

2001
dbSNP: rs137854106
rs137854106
TSC2
C 0.700 CausalMutation CLINVAR Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis. 11520734

2001
dbSNP: rs137854106
rs137854106
TSC2
C 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: rs137854218
rs137854218
PKD1 ; TSC2
C 0.700 CausalMutation CLINVAR

dbSNP: rs137854329
rs137854329
TSC2
CT 0.700 CausalMutation CLINVAR

dbSNP: rs1430119276
rs1430119276
TSC2
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: rs1459518095
rs1459518095
TSC2
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: 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: rs28934872
rs28934872
TSC2
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: rs376285784
rs376285784
TSC2
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: rs397514914
rs397514914
TSC2
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: rs397514916
rs397514916
TSC2
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: rs397515225
rs397515225
TSC2
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: rs45438205
rs45438205
TSC2
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: rs45460895
rs45460895
TSC2
A 0.700 CausalMutation CLINVAR

dbSNP: rs45469298
rs45469298
TSC2
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: rs45483392
rs45483392
TSC2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs45487497
rs45487497
TSC2
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: rs45488500
rs45488500
TSC2
T 0.700 CausalMutation CLINVAR

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: rs45507199
rs45507199
PKD1 ; TSC2
A 0.700 CausalMutation CLINVAR Molecular and clinical analyses of 84 patients with tuberous sclerosis complex. 16981987

2006
dbSNP: rs45507199
rs45507199
PKD1 ; TSC2
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