Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312687
rs869312687
RIT1
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs869312687
rs869312687
RIT1
CUI: C0239340
Disease: Edema of lower extremity
Edema of lower extremity 		G 0.700 GeneticVariation CLINVAR

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

dbSNP: rs869312687
rs869312687
RIT1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs869025196
rs869025196
RIT1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		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: rs869025194
rs869025194
RIT1
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs869025191
rs869025191
RIT1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		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: rs869025191
rs869025191
RIT1
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs869025191
rs869025191
RIT1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		G 0.700 GeneticVariation CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665

2014
dbSNP: rs869025191
rs869025191
RIT1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs869025191
rs869025191
RIT1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		G 0.700 GeneticVariation CLINVAR Next-generation sequencing identifies rare variants associated with Noonan syndrome. 25049390

2014
dbSNP: rs869025190
rs869025190
RIT1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs869025193
rs869025193
RIT1
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		C 0.800 CausalMutation CLINVAR Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. 23791108

2013
dbSNP: rs869025193
rs869025193
RIT1
CUI: C3809233
Disease: NOONAN SYNDROME 8
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
dbSNP: rs672601335
rs672601335
RIT1
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		G 0.800 CausalMutation CLINVAR Further evidence of the importance of RIT1 in Noonan syndrome. 25124994

2014
dbSNP: rs672601335
rs672601335
RIT1
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		G 0.800 CausalMutation CLINVAR Next-generation sequencing identifies rare variants associated with Noonan syndrome. 25049390

2014
dbSNP: rs672601335
rs672601335
RIT1
CUI: C3809233
Disease: NOONAN SYNDROME 8
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
dbSNP: rs672601335
rs672601335
RIT1
CUI: C3809233
Disease: NOONAN SYNDROME 8
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
dbSNP: rs672601335
rs672601335
RIT1
CUI: C3809233
Disease: NOONAN SYNDROME 8
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
dbSNP: rs672601335
rs672601335
RIT1
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		G 0.800 CausalMutation CLINVAR Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. 23791108

2013
dbSNP: rs672601335
rs672601335
RIT1
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		G 0.800 CausalMutation CLINVAR Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. 27101134

2016
dbSNP: rs672601335
rs672601335
RIT1
CUI: C3809233
Disease: NOONAN SYNDROME 8
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
dbSNP: rs672601335
rs672601335
RIT1
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		G 0.800 CausalMutation CLINVAR Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. 26714497

2016
dbSNP: rs672601334
rs672601334
RIT1
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		C 0.800 CausalMutation CLINVAR Next-generation sequencing identifies rare variants associated with Noonan syndrome. 25049390

2014
dbSNP: rs672601334
rs672601334
RIT1
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		C 0.800 CausalMutation CLINVAR Further evidence of the importance of RIT1 in Noonan syndrome. 25124994

2014