Gene: KRAS ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs104894359
rs104894359
KRAS
G 0.700 CausalMutation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006
dbSNP: rs104894360
rs104894360
KRAS
A 0.720 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 0.720 CausalMutation CLINVAR Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders. 18456719

2008
dbSNP: rs104894360
rs104894360
KRAS
C 0.720 GeneticVariation CLINVAR

dbSNP: rs104894360
rs104894360
KRAS
A 0.720 CausalMutation CLINVAR Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 17056636

2007
dbSNP: rs104894360
rs104894360
KRAS
A 0.720 CausalMutation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006
dbSNP: rs104894360
rs104894360
KRAS
A 0.720 CausalMutation CLINVAR Congenital ulcerating hemangioma in a baby with KRAS mutation and cardio-facio-cutaneous syndrome. 17551339

2007
dbSNP: rs104894360
rs104894360
KRAS
0.720 GeneticVariation BEFREE 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
0.720 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: rs104894360
rs104894360
KRAS
A 0.720 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 0.720 CausalMutation CLINVAR Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. 16773572

2006
dbSNP: rs104894361
rs104894361
KRAS
A 0.700 CausalMutation CLINVAR Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 17056636

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: rs104894364
rs104894364
KRAS
A 0.710 CausalMutation CLINVAR Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders. 16921267

2006
dbSNP: rs104894364
rs104894364
KRAS
A 0.710 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: rs104894364
rs104894364
KRAS
0.710 GeneticVariation BEFREE 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: rs104894364
rs104894364
KRAS
A 0.710 CausalMutation CLINVAR Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations. 19396835

2009
dbSNP: rs104894364
rs104894364
KRAS
A 0.710 CausalMutation CLINVAR Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings. 23321623

2013
dbSNP: rs104894364
rs104894364
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: rs104894364
rs104894364
KRAS
A 0.710 CausalMutation CLINVAR Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes. 20112233

2010
dbSNP: rs104894364
rs104894364
KRAS
A 0.710 CausalMutation CLINVAR An activating KRAS mutation in imatinib-resistant chronic myeloid leukemia. 18509354

2008
dbSNP: rs104894364
rs104894364
KRAS
A 0.710 CausalMutation CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621

2011
dbSNP: rs104894365
rs104894365
KRAS
T 0.720 CausalMutation CLINVAR PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. 19020799

2008