Gene: HRAS ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
G 0.840 CausalMutation CLINVAR Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome. 24224811

2013
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
A 0.840 CausalMutation CLINVAR Germline mutations in HRAS proto-oncogene cause Costello syndrome. 16170316

2005
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
T 0.840 CausalMutation CLINVAR Severe neonatal manifestations of Costello syndrome. 18039947

2008
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
G 0.840 CausalMutation CLINVAR In the current study, we identified four mutations (p.G12S, p.G12A, p.G12C and p.G12D) in 21 patients and analyzed the associated clinical manifestations of CS in these individuals. 21850009

2011
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
T 0.840 CausalMutation CLINVAR Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. 16443854

2006
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
G 0.840 CausalMutation CLINVAR Germline mutations in HRAS proto-oncogene cause Costello syndrome. 16170316

2005
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
G 0.840 CausalMutation CLINVAR HRAS mutations in bladder cancer at an early age and the possible association with the Costello Syndrome. 24169525

2014
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
G 0.840 CausalMutation CLINVAR In addition, a fatal course of CS was present in one patient with the p.G12A mutation and in another with p.G12S, there was a co-occurrence of Turner syndrome because of the distal Xp deletion. 28027064

2017
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
T 0.840 CausalMutation CLINVAR Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D. 18642361

2009
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
T 0.840 CausalMutation CLINVAR Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome. 21344638

2011
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
T 0.840 CausalMutation CLINVAR We report a patient with typical Costello syndrome and a novel heterozygous missense mutation in codon 117 (c.350A>G, p.Lys117Arg) of the HRAS gene, resulting in constitutive activation of the RAS/MAPK pathway similar to the typical p.Gly12Ser and p.Gly12Ala mutations. 17979197

2008
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
A 0.830 CausalMutation CLINVAR To test the hypothesis that subtle genotype-phenotype differences exist, we report the first cohort comparison between 12 Costello syndrome individuals with p.G13C and individuals with p.G12S. 21438134

2011
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
A 0.830 CausalMutation CLINVAR HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. 16329078

2006
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
A 0.830 CausalMutation CLINVAR HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome. 21850009

2011
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
A 0.830 CausalMutation CLINVAR An unexpected new role of mutant Ras: perturbation of human embryonic development. 17211612

2007
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
A 0.830 CausalMutation CLINVAR A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. 23093928

2012
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
A 0.830 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: rs104894228
rs104894228
HRAS ; LRRC56
A 0.830 CausalMutation CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262

2008
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
T 0.810 CausalMutation CLINVAR Germline mutations in HRAS proto-oncogene cause Costello syndrome. 16170316

2005
dbSNP: rs104894227
rs104894227
HRAS ; LRRC56
C 0.810 CausalMutation CLINVAR Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. 16443854

2006
dbSNP: rs104894227
rs104894227
HRAS ; LRRC56
C 0.810 CausalMutation CLINVAR ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581

2018
dbSNP: rs104894227
rs104894227
HRAS ; LRRC56
C 0.810 CausalMutation CLINVAR HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome. 21850009

2011
dbSNP: rs104894227
rs104894227
HRAS ; LRRC56
C 0.810 CausalMutation CLINVAR We report a patient with typical Costello syndrome and a novel heterozygous missense mutation in codon 117 (c.350A>G, p.Lys117Arg) of the HRAS gene, resulting in constitutive activation of the RAS/MAPK pathway similar to the typical p.Gly12Ser and p.Gly12Ala mutations. 17979197

2008
dbSNP: rs121917758
rs121917758
HRAS ; LRRC56
A 0.810 CausalMutation CLINVAR Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders. 16921267

2006
dbSNP: rs121917758
rs121917758
HRAS ; LRRC56
A 0.810 CausalMutation CLINVAR Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings. 23321623

2013