Gene: HRAS ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917757
rs121917757
HRAS ; LRRC56
T 0.820 GeneticVariation CLINVAR Two disease-associated mutations, G12V and G12S, have previously been observed in patients with Costello syndrome (CS), and two other mutations, E63K and Q22K, are novel. 17412879

2007
dbSNP: rs121917757
rs121917757
HRAS ; LRRC56
T 0.820 GeneticVariation CLINVAR Molecular studies in this patient demonstrated the uncommon Q22K mutation in the HRAS gene, diagnostic of Costello syndrome. 25668678

2015
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
A 0.810 GeneticVariation CLINVAR Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome. 24224811

2013
dbSNP: rs121917759
rs121917759
HRAS ; LRRC56
A 0.800 GeneticVariation CLINVAR Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype? 18247425

2008
dbSNP: rs121917759
rs121917759
HRAS ; LRRC56
A 0.800 GeneticVariation CLINVAR A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. 23093928

2012
dbSNP: rs121917759
rs121917759
HRAS ; LRRC56
A 0.800 GeneticVariation CLINVAR Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. 17054105

2007
dbSNP: rs727503094
rs727503094
HRAS ; LRRC56
TT 0.750 GeneticVariation CLINVAR Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. 16443854

2006
dbSNP: rs727503094
rs727503094
HRAS ; LRRC56
TT 0.750 GeneticVariation 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: rs727503093
rs727503093
HRAS ; LRRC56
T 0.700 GeneticVariation CLINVAR Nucleotide sequence of the oncogene encoding the p21 transforming protein of Kirsten murine sarcoma virus. 6287573

1982
dbSNP: rs727503093
rs727503093
HRAS ; LRRC56
T 0.700 GeneticVariation CLINVAR Ras p21 proteins with high or low GTPase activity can efficiently transform NIH/3T3 cells. 3004741

1986
dbSNP: rs727503093
rs727503093
HRAS ; LRRC56
T 0.700 GeneticVariation CLINVAR ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581

2018
dbSNP: rs727503093
rs727503093
HRAS ; LRRC56
T 0.700 GeneticVariation CLINVAR Functional specificity of ras isoforms: so similar but so different. 21779495

2011
dbSNP: rs727503093
rs727503093
HRAS ; LRRC56
T 0.700 GeneticVariation CLINVAR Role of the switch II region in the conformational transition of activation of Ha-ras-p21. 10716188

2000
dbSNP: rs727503093
rs727503093
HRAS ; LRRC56
T 0.700 GeneticVariation CLINVAR ras genes. 3304147

1987
dbSNP: rs727503093
rs727503093
HRAS ; LRRC56
T 0.700 GeneticVariation CLINVAR Characterization of the phosphorylation sites and the surrounding amino acid sequences of the p21 transforming proteins coded for by the Harvey and Kirsten strains of murine sarcoma viruses. 6288698

1982
dbSNP: rs727503093
rs727503093
HRAS ; LRRC56
T 0.700 GeneticVariation CLINVAR The ras gene family and human carcinogenesis. 3283542

1988
dbSNP: rs727503093
rs727503093
HRAS ; LRRC56
T 0.700 GeneticVariation CLINVAR Nucleotide sequence of the p21 transforming protein of Harvey murine sarcoma virus. 6287572

1982
dbSNP: rs727503093
rs727503093
HRAS ; LRRC56
T 0.700 GeneticVariation CLINVAR rac, a novel ras-related family of proteins that are botulinum toxin substrates. 2674130

1989
dbSNP: rs727504747
rs727504747
HRAS ; LRRC56
AG 0.700 GeneticVariation CLINVAR

dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
T 0.900 CausalMutation CLINVAR Enhanced human brain associative plasticity in Costello syndrome. 20660566

2010
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
T 0.900 CausalMutation CLINVAR Heterozygous missense mutations in HRAS are causative for Costello syndrome, with the c.34G > A (p.G12S) mutation as the most commonly found alteration. 20979192

2010
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
T 0.900 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: rs104894229
rs104894229
HRAS ; LRRC56
T 0.900 CausalMutation CLINVAR Partially correlated thin annular sources: the scalar case. 18978862

2008
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
T 0.900 CausalMutation CLINVAR Recurring G12S mutation of HRAS in a Chinese child with Costello syndrome with high alkaline phosphatase level. 19669404

2009
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
T 0.900 CausalMutation CLINVAR Craniofacial and dental malformations in Costello syndrome: A detailed evaluation using multi-detector row computed tomography. 23751039

2013