Gene: KRAS ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727503108
rs727503108
KRAS
A 0.710 GeneticVariation CLINVAR The importance of evaluation of DNA amplificability in KRAS mutation testing with dideoxy sequencing using formalin-fixed and paraffin-embedded colorectal cancer tissues. 20926413

2011
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 Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations. 19396835

2009
dbSNP: rs727503108
rs727503108
KRAS
A 0.710 GeneticVariation CLINVAR Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations. 19396835

2009
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 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: rs104894366
rs104894366
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: rs104894366
rs104894366
KRAS
C 0.710 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
A 0.710 CausalMutation CLINVAR Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 17056636

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
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 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
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: rs104894366
rs104894366
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: rs104894366
rs104894366
KRAS
C 0.710 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: rs727503108
rs727503108
KRAS
A 0.710 GeneticVariation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006
dbSNP: rs104894366
rs104894366
KRAS
C 0.710 GeneticVariation CLINVAR Effector domain mutations dissociate p21ras effector function and GTPase-activating protein interaction. 8246952

1993
dbSNP: rs193929331
rs193929331
KRAS
C 0.700 GeneticVariation CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665

2014
dbSNP: rs193929331
rs193929331
KRAS
C 0.700 GeneticVariation CLINVAR Tegumentary manifestations of Noonan and Noonan-related syndromes. 24037001

2013
dbSNP: rs193929331
rs193929331
KRAS
C 0.700 GeneticVariation CLINVAR Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship? 22211815

2012
dbSNP: rs727504662
rs727504662
KRAS
A 0.700 CausalMutation CLINVAR KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: report of another family with metopic craniosynostosis. 22488932

2012
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: rs193929331
rs193929331
KRAS
C 0.700 GeneticVariation CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621

2011
dbSNP: rs193929331
rs193929331
KRAS
C 0.700 GeneticVariation CLINVAR Frequent pathway mutations of splicing machinery in myelodysplasia. 21909114

2011
dbSNP: rs727503110
rs727503110
KRAS
C 0.700 CausalMutation CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621

2011