Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727503963
rs727503963
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		C 0.800 GeneticVariation CLINVAR Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria. 19177531

2009
dbSNP: rs727503963
rs727503963
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		C 0.800 CausalMutation CLINVAR Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria. 19177531

2009
dbSNP: rs727503963
rs727503963
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		C 0.800 CausalMutation CLINVAR Molecular genetics of HMG-CoA lyase deficiency. 17692550

2007
dbSNP: rs727503963
rs727503963
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		C 0.800 CausalMutation CLINVAR Crystal structure of human 3-hydroxy-3-methylglutaryl-CoA Lyase: insights into catalysis and the molecular basis for hydroxymethylglutaric aciduria. 16330550

2006
dbSNP: rs727503963
rs727503963
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		C 0.800 CausalMutation CLINVAR The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency. 15308132

2004
dbSNP: rs727503963
rs727503963
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		C 0.800 GeneticVariation CLINVAR Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria. 14518825

2003
dbSNP: rs727503963
rs727503963
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		C 0.800 CausalMutation CLINVAR Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria. 14518825

2003
dbSNP: rs727503963
rs727503963
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		C 0.800 CausalMutation CLINVAR Two missense point mutations in different alleles in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene produce 3-hydroxy-3-methylglutaric aciduria in a French patient. 9784232

1998
dbSNP: rs727503963
rs727503963
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		C 0.800 CausalMutation CLINVAR A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients. 9439591

1998
dbSNP: rs727503963
rs727503963
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		C 0.800 CausalMutation CLINVAR HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q. 9463337

1998
dbSNP: rs727503963
rs727503963
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		C 0.800 GeneticVariation CLINVAR Two missense point mutations in different alleles in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene produce 3-hydroxy-3-methylglutaric aciduria in a French patient. 9784232

1998
dbSNP: rs727503963
rs727503963
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		C 0.800 GeneticVariation CLINVAR Modeling of a mutation responsible for human 3-hydroxy-3-methylglutaryl-CoA lyase deficiency implicates histidine 233 as an active site residue. 8798725

1996
dbSNP: rs727503963
rs727503963
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		C 0.800 CausalMutation CLINVAR Modeling of a mutation responsible for human 3-hydroxy-3-methylglutaryl-CoA lyase deficiency implicates histidine 233 as an active site residue. 8798725

1996