Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338796
rs80338796
RAF1
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		A 0.700 CausalMutation CLINVAR Neonatal pulmonary arterial hypertension and Noonan syndrome: two fatal cases with a specific RAF1 mutation. 25706034

2015
dbSNP: rs80338796
rs80338796
RAF1
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		A 0.700 CausalMutation CLINVAR Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483

2007
dbSNP: rs80338796
rs80338796
RAF1
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		A 0.700 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482

2007