Gene: HMGCL ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727503963
rs727503963
HMGCL
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
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
C 0.800 CausalMutation CLINVAR Molecular genetics of HMG-CoA lyase deficiency. 17692550

2007
dbSNP: rs121964997
rs121964997
HMGCL
T 0.800 CausalMutation CLINVAR Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population. 17173698

2006
dbSNP: rs727503963
rs727503963
HMGCL
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
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
C 0.800 GeneticVariation CLINVAR Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria. 14518825

2003
dbSNP: rs727503963
rs727503963
HMGCL
C 0.800 CausalMutation CLINVAR Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria. 14518825

2003
dbSNP: rs121964997
rs121964997
HMGCL
T 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
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
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
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
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
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
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
dbSNP: rs121964998
rs121964998
HMGCL
T 0.800 CausalMutation CLINVAR

dbSNP: rs1212444447
rs1212444447
HMGCL ; LOC105376861
A 0.700 CausalMutation CLINVAR 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients. 28583327

2017
dbSNP: rs1409716731
rs1409716731
HMGCL ; LOC105376861
G 0.700 CausalMutation CLINVAR 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients. 28583327

2017
dbSNP: rs763494292
rs763494292
HMGCL
A 0.700 CausalMutation CLINVAR 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients. 28583327

2017
dbSNP: rs763494292
rs763494292
HMGCL
A 0.700 CausalMutation CLINVAR Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency. 23465862

2013
dbSNP: rs764264834
rs764264834
HMGCL
G 0.700 CausalMutation CLINVAR Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency. 23465862

2013
dbSNP: rs763494292
rs763494292
HMGCL
A 0.700 CausalMutation CLINVAR Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria. 19177531

2009
dbSNP: rs786205431
rs786205431
GALE ; HMGCL
T 0.700 CausalMutation CLINVAR Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria. 19177531

2009
dbSNP: rs786205431
rs786205431
GALE ; HMGCL
T 0.700 CausalMutation CLINVAR Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population. 17173698

2006
dbSNP: rs763494292
rs763494292
HMGCL
A 0.700 CausalMutation CLINVAR Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha)8 TIM barrel model of HL. 15752612

2005