Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs483352822
rs483352822
RIT1
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		G 0.700 CausalMutation CLINVAR Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. 27101134

2016
dbSNP: rs483352822
rs483352822
RIT1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		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
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		G 0.700 CausalMutation CLINVAR Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature. 27109146

2016
dbSNP: rs483352822
rs483352822
RIT1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		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
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		G 0.700 CausalMutation CLINVAR Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype. 25959749

2016
dbSNP: rs483352822
rs483352822
RIT1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.700 CausalMutation CLINVAR Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. 26714497

2016
dbSNP: rs483352822
rs483352822
RIT1
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		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: rs483352822
rs483352822
RIT1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.700 CausalMutation CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665

2014
dbSNP: rs483352822
rs483352822
RIT1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.700 CausalMutation CLINVAR Oncogenic RIT1 mutations in lung adenocarcinoma. 24469055

2014
dbSNP: rs483352822
rs483352822
RIT1
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		G 0.700 CausalMutation CLINVAR Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. 23791108

2013
dbSNP: rs483352822
rs483352822
RIT1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.700 CausalMutation CLINVAR Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. 23791108

2013
dbSNP: rs483352822
rs483352822
RIT1
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		G 0.700 CausalMutation CLINVAR

dbSNP: rs483352822
rs483352822
RIT1
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		G 0.700 CausalMutation CLINVAR

dbSNP: rs483352822
rs483352822
RIT1
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		G 0.700 CausalMutation CLINVAR

dbSNP: rs483352822
rs483352822
RIT1
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		A 0.700 CausalMutation CLINVAR

dbSNP: rs483352822
rs483352822
RIT1
CUI: C4025759
Disease: Abnormal mitral valve morphology
Abnormal mitral valve morphology 		G 0.700 CausalMutation CLINVAR

dbSNP: rs483352822
rs483352822
RIT1
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		G 0.700 CausalMutation CLINVAR

dbSNP: rs483352822
rs483352822
RIT1
CUI: C0151526
Disease: Premature Birth
Premature Birth 		G 0.700 CausalMutation CLINVAR

dbSNP: rs483352822
rs483352822
RIT1
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		G 0.700 CausalMutation CLINVAR

dbSNP: rs483352822
rs483352822
RIT1
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		G 0.700 CausalMutation CLINVAR

dbSNP: rs483352822
rs483352822
RIT1
CUI: C0008733
Disease: Chylothorax
Chylothorax 		G 0.700 CausalMutation CLINVAR

dbSNP: rs483352822
rs483352822
RIT1
CUI: C4025753
Disease: Abnormal tricuspid valve morphology
Abnormal tricuspid valve morphology 		G 0.700 CausalMutation CLINVAR

dbSNP: rs483352822
rs483352822
RIT1
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve 		G 0.700 CausalMutation CLINVAR

dbSNP: rs483352822
rs483352822
RIT1
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		G 0.700 CausalMutation CLINVAR