Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933386
rs28933386
PTPN11
G 0.720 CausalMutation CLINVAR RASopathies: Clinical Diagnosis in the First Year of Life. 22190897

2011
dbSNP: rs28933386
rs28933386
PTPN11
G 0.720 CausalMutation CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260

2011
dbSNP: rs397517150
rs397517150
SOS1
G 0.720 CausalMutation CLINVAR SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 21387466

2011
dbSNP: rs121918461
rs121918461
PTPN11
G 0.720 CausalMutation CLINVAR A suggested role for mitochondria in Noonan syndrome. 19835954

2010
dbSNP: rs121918461
rs121918461
PTPN11
G 0.720 CausalMutation CLINVAR A germline gain-of-function mutation in Ptpn11 (Shp-2) phosphatase induces myeloproliferative disease by aberrant activation of hematopoietic stem cells. 20651068

2010
dbSNP: rs28933386
rs28933386
PTPN11
G 0.720 CausalMutation CLINVAR Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? 21340158

2010
dbSNP: rs28933386
rs28933386
PTPN11
G 0.720 CausalMutation CLINVAR Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents. 20979190

2010
dbSNP: rs104894365
rs104894365
KRAS
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: rs121918461
rs121918461
PTPN11
G 0.720 CausalMutation CLINVAR Noonan syndrome/leukemia-associated gain-of-function mutations in SHP-2 phosphatase (PTPN11) enhance cell migration and angiogenesis. 19008228

2009
dbSNP: rs121918461
rs121918461
PTPN11
G 0.720 CausalMutation CLINVAR We showed previously that knock-in mice bearing the NS mutant Ptpn11(D61G) on a mixed 129S4/SvJae X C57BL6/J background exhibit all major NS features, including a variety of cardiac defects, with variable penetrance. 19251646

2009
dbSNP: rs121918461
rs121918461
PTPN11
0.720 GeneticVariation BEFREE We report on a fetus with Noonan syndrome and a missense mutation c.182A > C (p.Asp61Ala) of PTPN11 who responded poorly to antenatal pleurodesis by OK-432. 19927903

2009
dbSNP: rs121918461
rs121918461
PTPN11
C 0.720 GeneticVariation CLINVAR We report on a fetus with Noonan syndrome and a missense mutation c.182A > C (p.Asp61Ala) of PTPN11 who responded poorly to antenatal pleurodesis by OK-432. 19927903

2009
dbSNP: rs104894360
rs104894360
KRAS
A 0.720 CausalMutation CLINVAR Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders. 18456719

2008
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
dbSNP: rs121918461
rs121918461
PTPN11
C 0.720 GeneticVariation CLINVAR Long-term GH treatment improves adult height in children with Noonan syndrome with and without mutations in protein tyrosine phosphatase, non-receptor-type 11. 18562489

2008
dbSNP: rs121918461
rs121918461
PTPN11
G 0.720 CausalMutation CLINVAR Noonan syndrome-associated SHP-2/Ptpn11 mutants enhance SIRPalpha and PZR tyrosyl phosphorylation and promote adhesion-mediated ERK activation. 18378677

2008
dbSNP: rs121918461
rs121918461
PTPN11
G 0.720 CausalMutation CLINVAR Long-term GH treatment improves adult height in children with Noonan syndrome with and without mutations in protein tyrosine phosphatase, non-receptor-type 11. 18562489

2008
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 Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 17056636

2007
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 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
KRAS
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
KRAS
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
KRAS
T 0.720 CausalMutation CLINVAR Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 17056636

2007
dbSNP: rs121918459
rs121918459
PTPN11
G 0.720 CausalMutation CLINVAR Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations. 17497712

2007