rs45469298
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
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
rs45469298
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
0.800
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs45469298
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
T
0.800
CausalMutation
CLINVAR
Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.
26540169
2015
rs45469298
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
T
0.800
CausalMutation
CLINVAR
Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.
22867869
2013
rs45469298
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
0.800
GeneticVariation
UNIPROT
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
23519317
2013
rs45469298
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
0.800
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs45469298
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
T
0.800
CausalMutation
CLINVAR
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.
17304050
2007
rs45469298
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
T
0.800
CausalMutation
CLINVAR
Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex.
15483652
2005
rs45469298
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
T
0.800
CausalMutation
CLINVAR
Phosphorylation and binding partner analysis of the TSC1-TSC2 complex.
15963462
2005
rs45469298
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
T
0.800
CausalMutation
CLINVAR
Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.
15595939
2005
rs45469298
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
T
0.800
CausalMutation
CLINVAR
TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.
12111193
2002
rs45469298
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
T
0.800
CausalMutation
CLINVAR
TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex.
11741832
2001
rs45469298
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
T
0.800
CausalMutation
CLINVAR
Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2.
10735580
1999
rs45469298
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
T
0.800
CausalMutation
CLINVAR
Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.
10205261
1999
rs45469298
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
T
0.800
CausalMutation
CLINVAR
Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.
9463313
1998
rs45469298
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
T
0.800
CausalMutation
CLINVAR
Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.
8824881
1996