Gene: TSC1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203434
rs118203434
TSC1
A 0.700 CausalMutation CLINVAR Tuberous Sclerosis Complex Associated with Vascular Anomalies or Overgrowth. 27470532

2016
dbSNP: rs118203478
rs118203478
TSC1
CA 0.700 CausalMutation CLINVAR Multiple pulmonary artery aneurysms in tuberous sclerosis complex. 23341583

2013
dbSNP: rs118203564
rs118203564
TSC1
C 0.700 CausalMutation CLINVAR Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations. 18032745

2008
dbSNP: rs118203434
rs118203434
TSC1
A 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: rs118203477
rs118203477
TSC1
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: rs118203682
rs118203682
TSC1
A 0.700 CausalMutation CLINVAR Molecular and clinical analyses of 84 patients with tuberous sclerosis complex. 16981987

2006
dbSNP: rs118203434
rs118203434
TSC1
A 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: rs118203564
rs118203564
TSC1
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: rs118203728
rs118203728
TSC1
A 0.700 CausalMutation CLINVAR Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex. 12015165

2002
dbSNP: rs118203564
rs118203564
TSC1
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: rs118203434
rs118203434
TSC1
A 0.700 CausalMutation CLINVAR Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects. 10533066

1999
dbSNP: rs118203478
rs118203478
TSC1
CA 0.700 CausalMutation CLINVAR Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex. 10570911

1999
dbSNP: rs118203478
rs118203478
TSC1
CA 0.700 CausalMutation CLINVAR Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation. 10227394

1999
dbSNP: rs118203434
rs118203434
TSC1
A 0.700 CausalMutation CLINVAR Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE. 10363127

1998
dbSNP: rs118203477
rs118203477
TSC1
C 0.700 CausalMutation CLINVAR Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE. 10363127

1998
dbSNP: rs118203477
rs118203477
TSC1
C 0.700 CausalMutation CLINVAR Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance. 9924605

1998
dbSNP: rs118203564
rs118203564
TSC1
C 0.700 CausalMutation CLINVAR Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance. 9924605

1998
dbSNP: rs118203728
rs118203728
TSC1
A 0.700 CausalMutation CLINVAR A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients. 9803264

1998
dbSNP: rs118203477
rs118203477
TSC1
C 0.700 CausalMutation CLINVAR Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. 9242607

1997
dbSNP: rs118203564
rs118203564
TSC1
C 0.700 CausalMutation CLINVAR Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. 9242607

1997
dbSNP: rs118203682
rs118203682
TSC1
A 0.700 CausalMutation CLINVAR Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. 9242607

1997
dbSNP: rs1064794132
rs1064794132
TSC1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167619
rs1114167619
TSC1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1114167620
rs1114167620
TSC1
AG 0.700 CausalMutation CLINVAR

dbSNP: rs118203451
rs118203451
TSC1
C 0.700 CausalMutation CLINVAR