Variant: rs80338796 

    present in Gene: RAF1
    present in Chromosome: 3
    Position on Chromosome: 12604200
    Alleles of this Variant: G/A;C

rs80338796 in RAF1 gene and Adenocarcinoma of lung (disorder) PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs80338796 in RAF1 gene and Cardiac Hypertrophy PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

rs80338796 in RAF1 gene and Colorectal Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs80338796 in RAF1 gene and Cutaneous Melanoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs80338796 in RAF1 gene and Disorders of both mitral and tricuspid valves PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

rs80338796 in RAF1 gene and Downward slant of palpebral fissure PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

rs80338796 in RAF1 gene and Dysmorphic features PMID 21784453 2011 Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.

PMID 24777450 2014 RAF1 mutations in childhood-onset dilated cardiomyopathy.

PMID 23877478 2014 Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation.

PMID 20876176 2010 Noonan syndrome: clinical features, diagnosis, and management guidelines.

PMID 16523510 2006 LEOPARD syndrome: clinical diagnosis in the first year of life.

PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

PMID 26446362 2016 Recent advances in RASopathies.

PMID 21396583 2011 Noonan syndrome and clinically related disorders.

PMID 19437094 2009 Noonan syndrome: crossed fused ectopic kidneys and focal segmental glomerulosclerosis-a rare association.

PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

PMID 26903553 2016 Growth patterns of patients with Noonan syndrome: correlation with age and genotype.

PMID 20052757 2010 Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.

PMID 23613113 2013 A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1.

PMID 22389993 2012 Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children.

PMID 22826437 2012 Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants.

rs80338796 in RAF1 gene and Gastric Adenocarcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs80338796 in RAF1 gene and Gastroesophageal reflux disease PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

rs80338796 in RAF1 gene and Global developmental delay PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

rs80338796 in RAF1 gene and Hypertrophic Cardiomyopathy PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

rs80338796 in RAF1 gene and Intellectual Disability PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

rs80338796 in RAF1 gene and LEOPARD SYNDROME 2 PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

rs80338796 in RAF1 gene and LEOPARD Syndrome PMID 25706034 2015 Neonatal pulmonary arterial hypertension and Noonan syndrome: two fatal cases with a specific RAF1 mutation.

PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

rs80338796 in RAF1 gene and Multiple congenital anomalies PMID 23613113 2013 A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1.

PMID 22826437 2012 Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants.

PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

PMID 21784453 2011 Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.

PMID 22389993 2012 Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children.

PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

PMID 19437094 2009 Noonan syndrome: crossed fused ectopic kidneys and focal segmental glomerulosclerosis-a rare association.

PMID 16523510 2006 LEOPARD syndrome: clinical diagnosis in the first year of life.

PMID 21396583 2011 Noonan syndrome and clinically related disorders.

PMID 20876176 2010 Noonan syndrome: clinical features, diagnosis, and management guidelines.

PMID 26446362 2016 Recent advances in RASopathies.

PMID 26903553 2016 Growth patterns of patients with Noonan syndrome: correlation with age and genotype.

PMID 23877478 2014 Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation.

PMID 20052757 2010 Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.

PMID 24777450 2014 RAF1 mutations in childhood-onset dilated cardiomyopathy.

rs80338796 in RAF1 gene and Muscle hypotonia PMID 21784453 2011 Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.

PMID 26903553 2016 Growth patterns of patients with Noonan syndrome: correlation with age and genotype.

PMID 24777450 2014 RAF1 mutations in childhood-onset dilated cardiomyopathy.

PMID 26446362 2016 Recent advances in RASopathies.

PMID 22826437 2012 Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants.

PMID 23613113 2013 A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1.

PMID 22389993 2012 Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children.

PMID 16523510 2006 LEOPARD syndrome: clinical diagnosis in the first year of life.

PMID 20876176 2010 Noonan syndrome: clinical features, diagnosis, and management guidelines.

PMID 23877478 2014 Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation.

PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

PMID 21396583 2011 Noonan syndrome and clinically related disorders.

PMID 19437094 2009 Noonan syndrome: crossed fused ectopic kidneys and focal segmental glomerulosclerosis-a rare association.

PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

PMID 20052757 2010 Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.

rs80338796 in RAF1 gene and Noonan Syndrome PMID 1760348 1992 Downgrading of arts-centered education in state schools.

PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

PMID 29084544 2017 Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.

PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

PMID 20052757 2010 Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.

PMID 23877478 2014 Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation.

PMID 29493581 2018 ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.

PMID 25706034 2015 We present two infants with Noonan syndrome and an identical RAF1 mutation, p.Ser257Leu (c.770C>T), who developed severe pulmonary arterial hypertension (PAH) that proved to be fatal.

PMID 22389993 2012 Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children.

PMID 24775816 2013 LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.

rs80338796 in RAF1 gene and Noonan Syndrome 5 PMID 20683980 2010 Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.

PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

rs80338796 in RAF1 gene and Nystagmus PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

rs80338796 in RAF1 gene and Pediatric failure to thrive PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

rs80338796 in RAF1 gene and Polyhydramnios PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

rs80338796 in RAF1 gene and Relative macrocephaly PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

rs80338796 in RAF1 gene and Short stature PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

rs80338796 in RAF1 gene and Ventricular Septal Defects PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.