Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1034395178
rs1034395178
LZTR1
A 0.700 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018
dbSNP: rs1554333853
rs1554333853
CDK13
G 0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

2017
dbSNP: rs121918459
rs121918459
PTPN11
G 0.700 CausalMutation CLINVAR Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome. 22711529

2012
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
T 0.700 CausalMutation CLINVAR Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism. 19206176

2009
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
T 0.700 CausalMutation CLINVAR Severe neonatal manifestations of Costello syndrome. 18039947

2008
dbSNP: rs121908596
rs121908596
MAP2K1
T 0.700 GeneticVariation CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262

2008
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
T 0.700 CausalMutation CLINVAR Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. 17054105

2007
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. 16443854

2006
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
T 0.700 CausalMutation CLINVAR HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. 16372351

2006
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
T 0.700 CausalMutation CLINVAR HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. 16329078

2006
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
T 0.700 CausalMutation CLINVAR Somatic mosaicism for an HRAS mutation causes Costello syndrome. 16969868

2006
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
T 0.700 CausalMutation CLINVAR Recurring HRAS mutation G12S in Dutch patients with Costello syndrome. 16881968

2006
dbSNP: rs180177035
rs180177035
BRAF
C 0.700 CausalMutation CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621

2006
dbSNP: rs180177035
rs180177035
BRAF
C 0.700 CausalMutation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
T 0.700 CausalMutation CLINVAR Germline mutations in HRAS proto-oncogene cause Costello syndrome. 16170316

2005
dbSNP: rs121918459
rs121918459
PTPN11
G 0.700 CausalMutation CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469

2002
dbSNP: rs121918459
rs121918459
PTPN11
G 0.700 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002
dbSNP: rs121918459
rs121918459
PTPN11
G 0.700 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001
dbSNP: rs1032242817
rs1032242817
DHCR7
T 0.700 CausalMutation CLINVAR

dbSNP: rs1213930919
rs1213930919
TTN ; TTN-AS1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918454
rs121918454
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918458
rs121918458
PTPN11
A 0.700 CausalMutation CLINVAR

dbSNP: rs121918460
rs121918460
PTPN11
G 0.700 CausalMutation CLINVAR