rs672601334
|
|
NOONAN SYNDROME 8
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.
|
26714497 |
2016 |
rs672601334
|
|
NOONAN SYNDROME 8
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.
|
27101134 |
2016 |
rs672601334
|
|
NOONAN SYNDROME 8
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.
|
26757980 |
2016 |
rs672601334
|
|
NOONAN SYNDROME 8
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.
|
25959749 |
2016 |
rs672601334
|
|
NOONAN SYNDROME 8
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1).
|
27226556 |
2016 |
rs672601334
|
|
NOONAN SYNDROME 8
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Next-generation sequencing identifies rare variants associated with Noonan syndrome.
|
25049390 |
2014 |
rs672601334
|
|
NOONAN SYNDROME 8
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Further evidence of the importance of RIT1 in Noonan syndrome.
|
25124994 |
2014 |
rs672601334
|
|
NOONAN SYNDROME 8
|
C |
0.800 |
CausalMutation
|
CLINVAR |
The usefulness of whole-exome sequencing in routine clinical practice.
|
24901346 |
2014 |
rs672601334
|
|
NOONAN SYNDROME 8
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
|
23791108 |
2013 |
rs672601335
|
|
NOONAN SYNDROME 8
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.
|
27109146 |
2016 |
rs672601335
|
|
NOONAN SYNDROME 8
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1).
|
27226556 |
2016 |
rs672601335
|
|
NOONAN SYNDROME 8
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.
|
27101134 |
2016 |
rs672601335
|
|
NOONAN SYNDROME 8
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.
|
26757980 |
2016 |
rs672601335
|
|
NOONAN SYNDROME 8
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.
|
26714497 |
2016 |
rs672601335
|
|
NOONAN SYNDROME 8
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Further evidence of the importance of RIT1 in Noonan syndrome.
|
25124994 |
2014 |
rs672601335
|
|
NOONAN SYNDROME 8
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Next-generation sequencing identifies rare variants associated with Noonan syndrome.
|
25049390 |
2014 |
rs672601335
|
|
NOONAN SYNDROME 8
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
|
23791108 |
2013 |
rs672601335
|
|
NOONAN SYNDROME 8
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Lichenoid tissue reaction (LTR) induced by local transfer of Ia-reactive T-cell clones. II. LTR by epidermal invasion of cytotoxic lymphokine-producing autoreactive T cells.
|
2439608 |
1987 |
rs869025193
|
|
NOONAN SYNDROME 8
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.
|
26757980 |
2016 |
rs869025193
|
|
NOONAN SYNDROME 8
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
|
23791108 |
2013 |
rs672601334
|
|
Noonan Syndrome
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.
|
25959749 |
2016 |
rs672601334
|
|
Noonan Syndrome
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
|
24803665 |
2014 |
rs672601334
|
|
Noonan Syndrome
|
C |
0.710 |
CausalMutation
|
CLINVAR |
The usefulness of whole-exome sequencing in routine clinical practice.
|
24901346 |
2014 |
rs672601334
|
|
Noonan Syndrome
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Further evidence of the importance of RIT1 in Noonan syndrome.
|
25124994 |
2014 |
rs672601334
|
|
Noonan Syndrome
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Next-generation sequencing identifies rare variants associated with Noonan syndrome.
|
25049390 |
2014 |