Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730881014
rs730881014
RIT1
CUI: C4025759
Disease: Abnormal mitral valve morphology
Abnormal mitral valve morphology 		T 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: 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: rs869025195
rs869025195
RIT1
CUI: C4025843
Disease: Abnormality of refraction
Abnormality of refraction 		G 0.700 CausalMutation CLINVAR

dbSNP: rs730881014
rs730881014
RIT1
CUI: C4025843
Disease: Abnormality of refraction
Abnormality of refraction 		T 0.700 CausalMutation CLINVAR

dbSNP: rs869025191
rs869025191
RIT1
CUI: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax 		T 0.700 CausalMutation CLINVAR

dbSNP: rs672601334
rs672601334
RIT1
CUI: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax 		C 0.700 CausalMutation CLINVAR

dbSNP: rs869025191
rs869025191
RIT1
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		T 0.700 CausalMutation CLINVAR

dbSNP: rs730881014
rs730881014
RIT1
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1557962794
rs1557962794
RIT1
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		G 0.700 CausalMutation CLINVAR

dbSNP: rs730881014
rs730881014
RIT1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs672601334
rs672601334
RIT1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		C 0.700 CausalMutation CLINVAR

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

dbSNP: rs672601334
rs672601334
RIT1
CUI: C0008733
Disease: Chylothorax
Chylothorax 		C 0.700 CausalMutation CLINVAR

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

dbSNP: rs869312687
rs869312687
RIT1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		G 0.700 CausalMutation CLINVAR

dbSNP: rs869312687
rs869312687
RIT1
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		G 0.700 GeneticVariation CLINVAR

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

dbSNP: rs869025195
rs869025195
RIT1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Further evidence of the importance of RIT1 in Noonan syndrome. 25124994

2014
dbSNP: rs869025195
rs869025195
RIT1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Next-generation sequencing identifies rare variants associated with Noonan syndrome. 25049390

2014
dbSNP: rs869025195
rs869025195
RIT1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. 23791108

2013
dbSNP: rs869025195
rs869025195
RIT1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Noonan syndrome: clinical features, diagnosis, and management guidelines. 20876176

2010
dbSNP: rs869025195
rs869025195
RIT1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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: rs869025195
rs869025195
RIT1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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