Gene: TSC2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514914
rs397514914
TSC2
T 0.700 CausalMutation CLINVAR TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex. 28211972

2017
dbSNP: rs45517248
rs45517248
TSC2
C 0.700 CausalMutation CLINVAR Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2. 25782670

2015
dbSNP: rs45517259
rs45517259
TSC2
A 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: rs45517395
rs45517395
TSC2
A 0.700 CausalMutation CLINVAR Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. 25599672

2015
dbSNP: rs137854218
rs137854218
PKD1 ; TSC2
C 0.700 CausalMutation CLINVAR Central TSC2 missense mutations are associated with a reduced risk of infantile spasms. 22867869

2013
dbSNP: rs28934872
rs28934872
TSC2
A 0.700 CausalMutation CLINVAR Central TSC2 missense mutations are associated with a reduced risk of infantile spasms. 22867869

2013
dbSNP: rs397514914
rs397514914
TSC2
T 0.700 CausalMutation CLINVAR Central TSC2 missense mutations are associated with a reduced risk of infantile spasms. 22867869

2013
dbSNP: rs45469298
rs45469298
TSC2
T 0.700 CausalMutation CLINVAR Central TSC2 missense mutations are associated with a reduced risk of infantile spasms. 22867869

2013
dbSNP: rs45517259
rs45517259
TSC2
A 0.700 CausalMutation CLINVAR Central TSC2 missense mutations are associated with a reduced risk of infantile spasms. 22867869

2013
dbSNP: rs45517412
rs45517412
PKD1 ; TSC2
T 0.700 CausalMutation CLINVAR Central TSC2 missense mutations are associated with a reduced risk of infantile spasms. 22867869

2013
dbSNP: rs397515297
rs397515297
TSC2
T 0.700 CausalMutation CLINVAR Identification of TSC1 and TSC2 mutations in Korean patients with tuberous sclerosis complex. 22490766

2012
dbSNP: rs45517259
rs45517259
TSC2
A 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: rs137854218
rs137854218
PKD1 ; TSC2
C 0.700 CausalMutation CLINVAR Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. 21309039

2011
dbSNP: rs28934872
rs28934872
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: rs397514914
rs397514914
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: rs397514919
rs397514919
TSC2
C 0.700 GeneticVariation CLINVAR Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. 21309039

2011
dbSNP: rs45486196
rs45486196
TSC2
A 0.700 GeneticVariation CLINVAR Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. 21309039

2011
dbSNP: rs45517182
rs45517182
TSC2
A 0.700 CausalMutation CLINVAR [Mutation screening and prenatal diagnosis of tuberous sclerosis complex]. 21811971

2011
dbSNP: rs45517259
rs45517259
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: rs45517395
rs45517395
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: rs45517395
rs45517395
TSC2
A 0.700 CausalMutation CLINVAR Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex. 21910228

2011
dbSNP: rs45517412
rs45517412
PKD1 ; 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: rs397514914
rs397514914
TSC2
T 0.700 CausalMutation CLINVAR Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events. 20633017

2010
dbSNP: rs45517395
rs45517395
TSC2
A 0.700 CausalMutation CLINVAR Tuberous sclerosis complex with a single brain lesion on MRI mimicking focal cortical dysplasia. 20399389

2010
dbSNP: rs45517412
rs45517412
PKD1 ; TSC2
T 0.700 CausalMutation CLINVAR A reliable cell-based assay for testing unclassified TSC2 gene variants. 18854862

2009