Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727503094
rs727503094
HRAS ; LRRC56
0.750 GeneticVariation BEFREE Whole exome sequencing (WES) revealed a previously well established, disease-causing heterozygous likely pathogenic variant in the Harvey rat sarcoma viral oncogene homolog (HRAS)-gene (c.35G > C, p. G12A, rs104894230), which implied the clinical diagnosis of Costello syndrome (CS; OMIM#190020.0004). 30885829

2019
dbSNP: rs727503094
rs727503094
HRAS ; LRRC56
0.750 GeneticVariation BEFREE Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation. 28455154

2017
dbSNP: rs727503094
rs727503094
HRAS ; LRRC56
0.750 GeneticVariation BEFREE We report a patient with Costello syndrome due to a rare tandem base substitution (c.35_36GC>AA) resulting in the p.G12E missense change. 25133308

2015
dbSNP: rs727503094
rs727503094
HRAS ; LRRC56
0.750 GeneticVariation BEFREE Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D. 22926243

2012
dbSNP: rs727503094
rs727503094
HRAS ; LRRC56
0.750 GeneticVariation BEFREE 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: 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: rs727503094
rs727503094
HRAS ; LRRC56
TT 0.750 GeneticVariation CLINVAR Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. 16443854

2006