Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516830
rs397516830
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5 		T 0.800 CausalMutation CLINVAR
dbSNP: rs587777588
rs587777588
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C4014656
Disease:
CARDIOMYOPATHY, DILATED, 1NN 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121434594
rs121434594
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease:
Noonan Syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs3730271
rs3730271
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease:
Noonan Syndrome 		T 0.700 GeneticVariation CLINVAR PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. 19020799 2008
dbSNP: rs397516829
rs397516829
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease:
Noonan Syndrome 		T 0.700 CausalMutation CLINVAR Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. 20052757 2010
dbSNP: rs397516829
rs397516829
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease:
Noonan Syndrome 		T 0.700 CausalMutation CLINVAR Mutations in conserved regions 1, 2, and 3 of Raf-1 that activate transforming activity. 11933072 2002
dbSNP: rs397516830
rs397516830
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969056
Disease:
LEOPARD SYNDROME 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs397516830
rs397516830
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1860991
Disease:
NOONAN SYNDROME 3 		T 0.700 GeneticVariation CLINVAR Prenatal diagnosis of hypoplastic left heart syndrome associated with Noonan Syndrome and de novo RAF1 mutation. 22821648 2012
dbSNP: rs397516830
rs397516830
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C4014656
Disease:
CARDIOMYOPATHY, DILATED, 1NN 		T 0.700 CausalMutation CLINVAR
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR LEOPARD syndrome: clinical diagnosis in the first year of life. 16523510 2006
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants. 22826437 2012
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. 20052757 2010
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Noonan syndrome and clinically related disorders. 21396583 2011
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. 22389993 2012
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation. 23877478 2014
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation. 23877478 2014
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR RAF1 mutations in childhood-onset dilated cardiomyopathy. 24777450 2014
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Growth patterns of patients with Noonan syndrome: correlation with age and genotype. 26903553 2016
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Noonan syndrome: crossed fused ectopic kidneys and focal segmental glomerulosclerosis-a rare association. 19437094 2009
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants. 22826437 2012
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Recent advances in RASopathies. 26446362 2016
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. 21784453 2011
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Noonan syndrome: crossed fused ectopic kidneys and focal segmental glomerulosclerosis-a rare association. 19437094 2009
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. 22389993 2012