rs1554819932
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs118203727
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs118203451
|
|
Neoplastic Syndromes, Hereditary
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1114167620
|
|
Neoplastic Syndromes, Hereditary
|
AG |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1114167619
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1064794132
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs118203728
|
|
Neoplastic Syndromes, Hereditary
|
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 |
rs118203477
|
|
Neoplastic Syndromes, Hereditary
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE.
|
10363127 |
1998 |
rs118203434
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE.
|
10363127 |
1998 |
rs118203564
|
|
Neoplastic Syndromes, Hereditary
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance.
|
9924605 |
1998 |
rs118203477
|
|
Neoplastic Syndromes, Hereditary
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance.
|
9924605 |
1998 |
rs118203477
|
|
Neoplastic Syndromes, Hereditary
|
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 |
rs118203434
|
|
Neoplastic Syndromes, Hereditary
|
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 |
rs118203682
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.
|
9242607 |
1997 |
rs118203564
|
|
Neoplastic Syndromes, Hereditary
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.
|
9242607 |
1997 |
rs118203477
|
|
Neoplastic Syndromes, Hereditary
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.
|
9242607 |
1997 |
rs118203682
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
|
16981987 |
2006 |
rs118203478
|
|
Neoplastic Syndromes, Hereditary
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Multiple pulmonary artery aneurysms in tuberous sclerosis complex.
|
23341583 |
2013 |
rs118203434
|
|
Neoplastic Syndromes, Hereditary
|
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 |
rs118203564
|
|
Neoplastic Syndromes, Hereditary
|
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 |
rs118203564
|
|
Neoplastic Syndromes, Hereditary
|
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 |
rs118203434
|
|
Neoplastic Syndromes, Hereditary
|
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 |
rs118203478
|
|
Neoplastic Syndromes, Hereditary
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.
|
10570911 |
1999 |
rs118203478
|
|
Neoplastic Syndromes, Hereditary
|
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 |
rs118203728
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex.
|
12015165 |
2002 |