Gene: RAF1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338796
rs80338796
RAF1
A 0.700 CausalMutation CLINVAR Growth patterns of patients with Noonan syndrome: correlation with age and genotype. 26903553

2016
dbSNP: rs80338796
rs80338796
RAF1
A 0.700 CausalMutation CLINVAR Recent advances in RASopathies. 26446362

2016
dbSNP: rs80338797
rs80338797
RAF1
T 0.700 GeneticVariation CLINVAR Growth patterns of patients with Noonan syndrome: correlation with age and genotype. 26903553

2016
dbSNP: rs80338797
rs80338797
RAF1
T 0.700 GeneticVariation CLINVAR Recent advances in RASopathies. 26446362

2016
dbSNP: rs80338796
rs80338796
RAF1
A 0.700 CausalMutation CLINVAR RAF1 mutations in childhood-onset dilated cardiomyopathy. 24777450

2014
dbSNP: rs80338796
rs80338796
RAF1
A 0.700 CausalMutation CLINVAR Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation. 23877478

2014
dbSNP: rs80338797
rs80338797
RAF1
T 0.700 GeneticVariation CLINVAR RAF1 mutations in childhood-onset dilated cardiomyopathy. 24777450

2014
dbSNP: rs80338797
rs80338797
RAF1
T 0.700 GeneticVariation CLINVAR Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation. 23877478

2014
dbSNP: rs80338796
rs80338796
RAF1
A 0.700 CausalMutation CLINVAR A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1. 23613113

2013
dbSNP: rs80338797
rs80338797
RAF1
T 0.700 GeneticVariation CLINVAR A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1. 23613113

2013
dbSNP: rs80338796
rs80338796
RAF1
A 0.700 CausalMutation CLINVAR Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. 22389993

2012
dbSNP: rs80338796
rs80338796
RAF1
A 0.700 CausalMutation CLINVAR Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants. 22826437

2012
dbSNP: rs80338797
rs80338797
RAF1
T 0.700 GeneticVariation CLINVAR Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. 22389993

2012
dbSNP: rs80338797
rs80338797
RAF1
T 0.700 GeneticVariation CLINVAR Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants. 22826437

2012
dbSNP: rs80338796
rs80338796
RAF1
A 0.700 CausalMutation CLINVAR Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. 21784453

2011
dbSNP: rs80338796
rs80338796
RAF1
A 0.700 CausalMutation CLINVAR Noonan syndrome and clinically related disorders. 21396583

2011
dbSNP: rs80338797
rs80338797
RAF1
T 0.700 GeneticVariation CLINVAR Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. 21784453

2011
dbSNP: rs80338797
rs80338797
RAF1
T 0.700 GeneticVariation CLINVAR Noonan syndrome and clinically related disorders. 21396583

2011
dbSNP: rs80338796
rs80338796
RAF1
A 0.700 CausalMutation CLINVAR Noonan syndrome: clinical features, diagnosis, and management guidelines. 20876176

2010
dbSNP: rs80338796
rs80338796
RAF1
A 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: rs80338797
rs80338797
RAF1
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
RAF1
T 0.700 GeneticVariation CLINVAR Noonan syndrome: clinical features, diagnosis, and management guidelines. 20876176

2010
dbSNP: rs80338796
rs80338796
RAF1
A 0.700 CausalMutation CLINVAR Noonan syndrome: crossed fused ectopic kidneys and focal segmental glomerulosclerosis-a rare association. 19437094

2009
dbSNP: rs80338797
rs80338797
RAF1
T 0.700 GeneticVariation CLINVAR Noonan syndrome: crossed fused ectopic kidneys and focal segmental glomerulosclerosis-a rare association. 19437094

2009
dbSNP: rs80338796
rs80338796
RAF1
A 0.700 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482

2007