rs45517258
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.
|
9829910 |
1998 |
rs45517258
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.
|
9463313 |
1998 |
rs45517258
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs45517258
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex.
|
25432535 |
2015 |
rs45517258
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex.
|
12015165 |
2002 |
rs45517258
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.
|
10205261 |
1999 |
rs45517258
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Three independent mutations in the TSC2 gene in a family with tuberous sclerosis.
|
19259131 |
2009 |
rs45517258
|
|
T |
0.800 |
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
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
A 34 bp deletion within TSC2 is a rare polymorphism, not a pathogenic mutation.
|
14641237 |
2003 |
rs45517258
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
|
21309039 |
2011 |
rs45517258
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.
|
22867869 |
2013 |
rs45517258
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations.
|
10607950 |
2000 |
rs45517258
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation.
|
22805177 |
2013 |
rs45517258
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.
|
17120248 |
2006 |
rs45517258
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Phosphorylation and binding partner analysis of the TSC1-TSC2 complex.
|
15963462 |
2005 |
rs45517258
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.
|
9302281 |
1997 |
rs45517258
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.
|
15595939 |
2005 |
rs45517258
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.
|
10570911 |
1999 |
rs45517258
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.
|
9829910 |
1998 |
rs45517258
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.
|
10205261 |
1999 |
rs45517258
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.
|
9463313 |
1998 |
rs45517258
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
rs45517258
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
|
23519317 |
2013 |
rs45517258
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2.
|
10735580 |
1999 |
rs45517258
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity.
|
15340059 |
2004 |