rs104894360
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Cardio-facio-cutaneous syndrome
A
0.710
CausalMutation
CLINVAR
Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.
18456719
2008
rs104894360
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Cardio-facio-cutaneous syndrome
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
rs104894360
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Cardio-facio-cutaneous syndrome
A
0.710
CausalMutation
CLINVAR
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
17056636
2007
rs104894360
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Cardio-facio-cutaneous syndrome
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
rs104894360
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Cardio-facio-cutaneous syndrome
A
0.710
CausalMutation
CLINVAR
Congenital ulcerating hemangioma in a baby with KRAS mutation and cardio-facio-cutaneous syndrome.
17551339
2007
rs104894360
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Cardio-facio-cutaneous syndrome
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
rs104894360
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Cardio-facio-cutaneous syndrome
A
0.710
CausalMutation
CLINVAR
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
16474404
2006
rs104894360
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Cardio-facio-cutaneous syndrome
A
0.710
CausalMutation
CLINVAR
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.
16773572
2006
rs387907205
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Cardio-facio-cutaneous syndrome
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
rs727503108
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Cardio-facio-cutaneous syndrome
A
0.700
GeneticVariation
CLINVAR
High resolution melting analysis of KRAS, BRAF and PIK3CA in KRAS exon 2 wild-type metastatic colorectal cancer.
23548132
2013
rs387907205
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Cardio-facio-cutaneous syndrome
C
0.700
GeneticVariation
CLINVAR
Two novel germline KRAS mutations: expanding the molecular and clinical phenotype.
21797849
2012
rs104894359
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Cardio-facio-cutaneous syndrome
G
0.700
CausalMutation
CLINVAR
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
20949621
2011
rs104894365
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Cardio-facio-cutaneous syndrome
T
0.700
CausalMutation
CLINVAR
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
20949621
2011
rs104894366
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Cardio-facio-cutaneous syndrome
C
0.700
GeneticVariation
CLINVAR
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
20949621
2011
rs727503108
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Cardio-facio-cutaneous syndrome
A
0.700
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
rs104894365
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Cardio-facio-cutaneous syndrome
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
rs727503108
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Cardio-facio-cutaneous syndrome
A
0.700
GeneticVariation
CLINVAR
Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations.
19396835
2009
rs727503109
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Cardio-facio-cutaneous syndrome
C
0.700
GeneticVariation
CLINVAR
Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature.
18958496
2009
rs104894365
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Cardio-facio-cutaneous syndrome
T
0.700
CausalMutation
CLINVAR
PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.
19020799
2008
rs104894359
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Cardio-facio-cutaneous syndrome
G
0.700
CausalMutation
CLINVAR
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
17056636
2007
rs104894365
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Cardio-facio-cutaneous syndrome
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
rs104894365
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Cardio-facio-cutaneous syndrome
T
0.700
CausalMutation
CLINVAR
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
17056636
2007
rs104894366
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Cardio-facio-cutaneous syndrome
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
rs397517042
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Cardio-facio-cutaneous syndrome
T
0.700
CausalMutation
CLINVAR
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
17056636
2007
rs727503109
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Cardio-facio-cutaneous syndrome
C
0.700
GeneticVariation
CLINVAR
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
17056636
2007