Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894365
rs104894365
T 0.720 CausalMutation CLINVAR ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581

2018

dbSNP: rs104894365
rs104894365
0.720 GeneticVariation BEFREE K-Ras(V14I) -induced Noonan syndrome predisposes to tumour development in mice. 27174785

2016

dbSNP: rs104894365
rs104894365
T 0.720 CausalMutation CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621

2011

dbSNP: rs104894365
rs104894365
T 0.720 CausalMutation CLINVAR Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature. 18958496

2009

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

2008

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

2008

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

2007

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

2007

dbSNP: rs104894360
rs104894360
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: rs104894365
rs104894365
T 0.720 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
0.720 GeneticVariation BEFREE Noonan syndrome-associated mutations V14I and T58I K-Ras activate Ras but have milder biochemical effects than somatic mutations encountered in cancers, offering an explanation why these K-Ras lesions are tolerated during embryonic development. 17211612

2007

dbSNP: rs104894365
rs104894365
T 0.720 CausalMutation CLINVAR Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 17056636

2007

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

2006

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

2006

dbSNP: rs104894365
rs104894365
T 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
C 0.720 GeneticVariation CLINVAR

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

2013

dbSNP: rs727503108
rs727503108
0.710 GeneticVariation BEFREE This heterozygous unclassified missense variant in exon 3: c.179G> T (p.Gly60Val) might be associated with a lethal form of Noonan syndrome. 24382853

2013

dbSNP: rs727503108
rs727503108
A 0.710 GeneticVariation CLINVAR High resolution melting analysis of KRAS, BRAF and PIK3CA in KRAS exon 2 wild-type metastatic colorectal cancer. 23548132

2013

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

2011

dbSNP: rs104894366
rs104894366
C 0.710 GeneticVariation CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621

2011

dbSNP: rs104894366
rs104894366
A 0.710 CausalMutation CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621

2011