|
rs45517308
|
|
Tuberous Sclerosis
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex.
|
24271014 |
2014 |
|
rs45517308
|
|
Tuberous Sclerosis
|
G |
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 |
|
rs45517308
|
|
Tuberous Sclerosis
|
G |
0.700 |
CausalMutation
|
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
rs45517258
|
|
Tuberous Sclerosis
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Here, we report one novel mutation of TSC1 (Q897X) and five novel mutations of TSC2 (c.336+1 G>A, L345R, E700K, R905G, K914K) identified in Japanese patients with TSC.
|
12015165 |
2002 |
|
rs45517258
|
|
Tuberous Sclerosis
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
|
21309039 |
2011 |
|
rs45517258
|
|
Tuberous Sclerosis
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.
|
9463313 |
1998 |
|
rs45517258
|
|
Tuberous Sclerosis
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Three independent mutations in the TSC2 gene in a family with tuberous sclerosis.
|
19259131 |
2009 |
|
rs45517258
|
|
Tuberous Sclerosis
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.
|
9829910 |
1998 |
|
rs45517258
|
|
Tuberous Sclerosis
|
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 |
|
rs45517258
|
|
Tuberous Sclerosis
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.
|
22867869 |
2013 |
|
rs45517258
|
|
Tuberous Sclerosis
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.
|
17120248 |
2006 |
|
rs45517258
|
|
Tuberous Sclerosis
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex.
|
25432535 |
2015 |
|
rs45517201
|
|
Tuberous Sclerosis
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
We used these assays to compare the effects of 9 different TSC2 variants (S132C, F143L, A196T, C244R, Y598H, I820del, T993M, L1511H and R1772C) identified in individuals with symptoms of TSC from 4 different families.
|
18302728 |
2008 |
|
rs45517169
|
|
Tuberous Sclerosis
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs45517115
|
|
Tuberous Sclerosis
|
T |
0.700 |
CausalMutation
|
CLINVAR |
TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.
|
12111193 |
2002 |
|
rs45516293
|
|
Tuberous Sclerosis
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.
|
17120248 |
2006 |
|
rs45516293
|
|
Tuberous Sclerosis
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported.
|
23389244 |
2013 |
|
rs45516293
|
|
Tuberous Sclerosis
|
C |
0.700 |
CausalMutation
|
CLINVAR |
A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex.
|
11403047 |
2001 |
|
rs45516293
|
|
Tuberous Sclerosis
|
C |
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 |
|
rs45507199
|
|
Tuberous Sclerosis
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.
|
20165957 |
2010 |
|
rs45507199
|
|
Tuberous Sclerosis
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
|
16981987 |
2006 |
|
rs45507199
|
|
Tuberous Sclerosis
|
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 |
|
rs45507199
|
|
Tuberous Sclerosis
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.
|
22867869 |
2013 |
|
rs45507199
|
|
Tuberous Sclerosis
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene.
|
10732801 |
1998 |
|
rs45507199
|
|
Tuberous Sclerosis
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Genotype and brain pathology phenotype in children with tuberous sclerosis complex.
|
27406250 |
2016 |