Gene: RIT1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs672601334
rs672601334
RIT1
C 0.710 CausalMutation CLINVAR Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype. 25959749

2016
dbSNP: rs672601334
rs672601334
RIT1
C 0.710 CausalMutation CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665

2014
dbSNP: rs672601334
rs672601334
RIT1
C 0.710 CausalMutation CLINVAR The usefulness of whole-exome sequencing in routine clinical practice. 24901346

2014
dbSNP: rs672601334
rs672601334
RIT1
C 0.710 CausalMutation CLINVAR Further evidence of the importance of RIT1 in Noonan syndrome. 25124994

2014
dbSNP: rs672601334
rs672601334
RIT1
C 0.710 CausalMutation CLINVAR Next-generation sequencing identifies rare variants associated with Noonan syndrome. 25049390

2014
dbSNP: rs672601334
rs672601334
RIT1
C 0.710 CausalMutation CLINVAR Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. 23791108

2013
dbSNP: rs869025194
rs869025194
RIT1
G 0.710 CausalMutation CLINVAR

dbSNP: rs869025194
rs869025194
RIT1
C 0.710 CausalMutation CLINVAR

dbSNP: rs483352822
rs483352822
RIT1
T 0.700 CausalMutation CLINVAR Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia. 26757980

2016
dbSNP: rs483352822
rs483352822
RIT1
T 0.700 CausalMutation CLINVAR Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype. 25959749

2016
dbSNP: rs483352822
rs483352822
RIT1
T 0.700 CausalMutation CLINVAR Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. 26714497

2016
dbSNP: rs869025189
rs869025189
RIT1
G 0.700 CausalMutation CLINVAR Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. 26714497

2016
dbSNP: rs869025189
rs869025189
RIT1
G 0.700 CausalMutation CLINVAR Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia. 26757980

2016
dbSNP: rs869025191
rs869025191
RIT1
G 0.700 GeneticVariation CLINVAR Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia. 26757980

2016
dbSNP: rs869025193
rs869025193
RIT1
C 0.700 CausalMutation CLINVAR Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia. 26757980

2016
dbSNP: rs869025196
rs869025196
RIT1
A 0.700 GeneticVariation CLINVAR Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia. 26757980

2016
dbSNP: rs483352822
rs483352822
RIT1
T 0.700 CausalMutation CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665

2014
dbSNP: rs483352822
rs483352822
RIT1
T 0.700 CausalMutation CLINVAR Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity. 24939608

2014
dbSNP: rs483352822
rs483352822
RIT1
T 0.700 CausalMutation CLINVAR Oncogenic RIT1 mutations in lung adenocarcinoma. 24469055

2014
dbSNP: rs672601335
rs672601335
RIT1
G 0.700 CausalMutation CLINVAR Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity. 24939608

2014
dbSNP: rs672601335
rs672601335
RIT1
G 0.700 CausalMutation CLINVAR Further evidence of the importance of RIT1 in Noonan syndrome. 25124994

2014
dbSNP: rs672601335
rs672601335
RIT1
G 0.700 CausalMutation CLINVAR Next-generation sequencing identifies rare variants associated with Noonan syndrome. 25049390

2014
dbSNP: rs869025189
rs869025189
RIT1
G 0.700 CausalMutation CLINVAR Next-generation sequencing identifies rare variants associated with Noonan syndrome. 25049390

2014
dbSNP: rs869025189
rs869025189
RIT1
G 0.700 CausalMutation CLINVAR Further evidence of the importance of RIT1 in Noonan syndrome. 25124994

2014
dbSNP: rs869025191
rs869025191
RIT1
G 0.700 GeneticVariation CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665

2014