rs1114167459
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1114167460
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1114167461
|
|
CTCGATACG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1114167462
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1114167463
|
|
CCA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1114167465
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1114167466
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1114167468
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs137854028
|
|
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 |
rs137854218
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.
|
10205261 |
1999 |
rs137854218
|
|
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 |
rs137854218
|
|
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 |
rs137854218
|
|
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 |
rs137854218
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.
|
22867869 |
2013 |
rs137854218
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
|
21309039 |
2011 |
rs137854218
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.
|
9829910 |
1998 |
rs137854307
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.
|
10533067 |
1999 |
rs137854307
|
|
A |
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 |
rs150766139
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555506395
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs28934872
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
|
21309039 |
2011 |
rs28934872
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex.
|
11741832 |
2001 |
rs28934872
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.
|
22867869 |
2013 |
rs28934872
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex.
|
15483652 |
2005 |
rs28934872
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.
|
9463313 |
1998 |