Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
0.810 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014
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
0.810 GeneticVariation UNIPROT Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation. 19995790

2010
dbSNP: rs104894227
rs104894227
HRAS ; LRRC56
0.810 GeneticVariation UNIPROT Severe neonatal manifestations of Costello syndrome. 18039947

2008
dbSNP: rs104894227
rs104894227
HRAS ; LRRC56
0.810 GeneticVariation BEFREE 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: rs104894227
rs104894227
HRAS ; LRRC56
0.810 GeneticVariation UNIPROT Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype? 18247425

2008
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: rs104894227
rs104894227
HRAS ; LRRC56
0.810 GeneticVariation UNIPROT Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. 17054105

2007
dbSNP: rs104894227
rs104894227
HRAS ; LRRC56
0.810 GeneticVariation UNIPROT Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. 16443854

2006
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
0.810 GeneticVariation UNIPROT HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. 16329078

2006
dbSNP: rs104894227
rs104894227
HRAS ; LRRC56
0.810 GeneticVariation UNIPROT Germline mutations in HRAS proto-oncogene cause Costello syndrome. 16170316

2005