Gene: TSC2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1114167468
rs1114167468
PKD1 ; TSC2
G 0.700 CausalMutation CLINVAR

dbSNP: rs137854218
rs137854218
PKD1 ; TSC2
C 0.700 CausalMutation CLINVAR Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. 10205261

1999
dbSNP: rs137854218
rs137854218
PKD1 ; 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 Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. 17304050

2007
dbSNP: rs137854218
rs137854218
PKD1 ; TSC2
C 0.700 CausalMutation CLINVAR Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. 15798777

2005
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: 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: rs137854218
rs137854218
PKD1 ; TSC2
C 0.700 CausalMutation CLINVAR Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis. 9829910

1998
dbSNP: rs45517412
rs45517412
PKD1 ; TSC2
T 0.700 CausalMutation CLINVAR A reliable cell-based assay for testing unclassified TSC2 gene variants. 18854862

2009
dbSNP: rs45517412
rs45517412
PKD1 ; TSC2
T 0.700 CausalMutation CLINVAR Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. 15798777

2005
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: 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: rs1114167459
rs1114167459
TSC2
G 0.700 CausalMutation CLINVAR

dbSNP: rs1114167460
rs1114167460
TSC2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167461
rs1114167461
TSC2
CTCGATACG 0.700 CausalMutation CLINVAR

dbSNP: rs1114167462
rs1114167462
TSC2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1114167463
rs1114167463
TSC2
CCA 0.700 CausalMutation CLINVAR

dbSNP: rs1114167465
rs1114167465
TSC2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1114167466
rs1114167466
TSC2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs137854028
rs137854028
TSC2
C 0.700 CausalMutation CLINVAR Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. 17304050

2007
dbSNP: rs137854307
rs137854307
TSC2
A 0.700 CausalMutation CLINVAR Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. 10533067

1999
dbSNP: rs137854307
rs137854307
TSC2
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: rs1555506395
rs1555506395
TSC2
G 0.700 CausalMutation CLINVAR

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