Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		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
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		G 0.840 CausalMutation CLINVAR We identified an unusual, new germline p.Gly12Val mutation, c.35_36GC>TG, in a 12-year-old boy with attenuated CS. 27195699

2016
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		G 0.840 CausalMutation CLINVAR Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma. 27589201

2016
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		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
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		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
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		T 0.840 CausalMutation CLINVAR Excess of neuromuscular spindles in a fetus with Costello syndrome: a clinicopathological report. 20658932

2011
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		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
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		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
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		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
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		G 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: rs104894230
rs104894230
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		T 0.840 CausalMutation CLINVAR Severe neonatal manifestations of Costello syndrome. 18039947

2008
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		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: rs104894230
rs104894230
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		T 0.840 CausalMutation CLINVAR Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. 16443854

2006
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		A 0.840 CausalMutation CLINVAR Germline mutations in HRAS proto-oncogene cause Costello syndrome. 16170316

2005
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		G 0.840 CausalMutation CLINVAR Germline mutations in HRAS proto-oncogene cause Costello syndrome. 16170316

2005
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		T 0.840 CausalMutation CLINVAR Carcinogen-induced mutations in the mouse c-Ha-ras gene provide evidence of multiple pathways for tumor progression. 2105486

1990
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis 		G 0.720 CausalMutation CLINVAR

dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		G 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		G 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		G 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
CUI: C0025202
Disease: melanoma
melanoma 		A 0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		T 0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum. 28390077

2017
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Targeted Resequencing of Putative Growth-Related Genes Using Whole Exome Sequencing in Patients with Severe Primary IGF-I Deficiency. 29073591

2017
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
CUI: C0027439
Disease: Nasopharyngeal Neoplasms
Nasopharyngeal Neoplasms 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016