Gene: KRAS ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894360
rs104894360
KRAS
0.710 GeneticVariation BEFREE We performed detailed biochemical and functional studies of three mutant K-Ras proteins (P34R, D153V, and F156L) found in individuals with Noonan syndrome and cardiofaciocutaneous syndrome. 17875937

2007
dbSNP: rs104894362
rs104894362
KRAS
0.010 GeneticVariation BEFREE We performed detailed biochemical and functional studies of three mutant K-Ras proteins (P34R, D153V, and F156L) found in individuals with Noonan syndrome and cardiofaciocutaneous syndrome. 17875937

2007
dbSNP: rs121913530
rs121913530
KRAS
0.010 GeneticVariation BEFREE We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syndrome (G12S mutation in the HRAS gene) and one with cardio-facio-cutaneous (CFC) syndrome or possibly Noonan syndrome (Q22E mutation in the KRAS gene). 17324647

2007
dbSNP: rs104894360
rs104894360
KRAS
A 0.710 CausalMutation CLINVAR Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 17056636

2007
dbSNP: rs104894360
rs104894360
KRAS
A 0.710 CausalMutation CLINVAR We performed detailed biochemical and functional studies of three mutant K-Ras proteins (P34R, D153V, and F156L) found in individuals with Noonan syndrome and cardiofaciocutaneous syndrome. 17875937

2007
dbSNP: rs104894360
rs104894360
KRAS
A 0.710 CausalMutation CLINVAR Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders. 18456719

2008
dbSNP: rs104894360
rs104894360
KRAS
A 0.710 CausalMutation CLINVAR We discovered de novo germline KRAS mutations that introduce V14I, T58I or D153V amino acid substitutions in five individuals with Noonan syndrome and a P34R alteration in a individual with cardio-facio-cutaneous syndrome (MIM 115150), which has overlapping features with Noonan syndrome. 16474405

2006
dbSNP: rs104894360
rs104894360
KRAS
A 0.710 CausalMutation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006
dbSNP: rs104894360
rs104894360
KRAS
A 0.710 CausalMutation CLINVAR Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. 16773572

2006
dbSNP: rs104894360
rs104894360
KRAS
A 0.710 CausalMutation CLINVAR Congenital ulcerating hemangioma in a baby with KRAS mutation and cardio-facio-cutaneous syndrome. 17551339

2007
dbSNP: rs104894359
rs104894359
KRAS
G 0.700 CausalMutation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006
dbSNP: rs104894359
rs104894359
KRAS
G 0.700 CausalMutation CLINVAR Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 17056636

2007
dbSNP: rs104894359
rs104894359
KRAS
G 0.700 CausalMutation CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621

2011
dbSNP: rs104894365
rs104894365
KRAS
T 0.700 CausalMutation CLINVAR We discovered de novo germline KRAS mutations that introduce V14I, T58I or D153V amino acid substitutions in five individuals with Noonan syndrome and a P34R alteration in a individual with cardio-facio-cutaneous syndrome (MIM 115150), which has overlapping features with Noonan syndrome. 16474405

2006
dbSNP: rs104894365
rs104894365
KRAS
T 0.700 CausalMutation CLINVAR Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. 17704260

2007
dbSNP: rs104894365
rs104894365
KRAS
T 0.700 CausalMutation CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621

2011
dbSNP: rs104894365
rs104894365
KRAS
T 0.700 CausalMutation CLINVAR PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. 19020799

2008
dbSNP: rs104894365
rs104894365
KRAS
T 0.700 CausalMutation CLINVAR Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature. 18958496

2009
dbSNP: rs104894365
rs104894365
KRAS
T 0.700 CausalMutation CLINVAR Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 17056636

2007
dbSNP: rs104894366
rs104894366
KRAS
C 0.700 GeneticVariation CLINVAR We discovered de novo germline KRAS mutations that introduce V14I, T58I or D153V amino acid substitutions in five individuals with Noonan syndrome and a P34R alteration in a individual with cardio-facio-cutaneous syndrome (MIM 115150), which has overlapping features with Noonan syndrome. 16474405

2006
dbSNP: rs104894366
rs104894366
KRAS
C 0.700 GeneticVariation CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621

2011
dbSNP: rs104894366
rs104894366
KRAS
C 0.700 GeneticVariation CLINVAR We performed detailed biochemical and functional studies of three mutant K-Ras proteins (P34R, D153V, and F156L) found in individuals with Noonan syndrome and cardiofaciocutaneous syndrome. 17875937

2007
dbSNP: rs104894366
rs104894366
KRAS
C 0.700 GeneticVariation CLINVAR Effector domain mutations dissociate p21ras effector function and GTPase-activating protein interaction. 8246952

1993
dbSNP: rs387907205
rs387907205
KRAS
C 0.700 GeneticVariation CLINVAR Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes. 23059812

2013
dbSNP: rs387907205
rs387907205
KRAS
C 0.700 GeneticVariation CLINVAR Two novel germline KRAS mutations: expanding the molecular and clinical phenotype. 21797849

2012