Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917757
rs121917757
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.820 GeneticVariation BEFREE Molecular studies in this patient demonstrated the uncommon Q22K mutation in the HRAS gene, diagnostic of Costello syndrome. 25668678

2015
dbSNP: rs121917757
rs121917757
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		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: rs121917757
rs121917757
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		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
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.820 GeneticVariation BEFREE 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
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.820 GeneticVariation UNIPROT 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
CUI: C1968782
Disease: MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121917757
rs121917757
HRAS ; LRRC56
CUI: C1864903
Disease: Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia 		0.010 GeneticVariation BEFREE A previously reported individual with the rare HRAS p.Gln22Lys had hyperinsulinemic hypoglycemia. 26572961

2016
dbSNP: rs121917757
rs121917757
HRAS ; LRRC56
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		0.010 GeneticVariation BEFREE A previously reported individual with the rare HRAS p.Gln22Lys had hyperinsulinemic hypoglycemia. 26572961

2016