Gene: HMGCL ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964998
rs121964998
HMGCL
T 0.800 CausalMutation CLINVAR

dbSNP: rs112508527
rs112508527
HMGCL
T 0.700 GeneticVariation CLINVAR

dbSNP: rs112508527
rs112508527
HMGCL
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1184002840
rs1184002840
HMGCL
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1302190999
rs1302190999
HMGCL ; LOC105376861
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1324641233
rs1324641233
HMGCL ; LOC105376861
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1425615804
rs1425615804
HMGCL
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553131955
rs1553131955
HMGCL
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553132209
rs1553132209
HMGCL
T 0.700 CausalMutation CLINVAR

dbSNP: rs1553132520
rs1553132520
HMGCL
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553133042
rs1553133042
HMGCL
CG 0.700 GeneticVariation CLINVAR

dbSNP: rs200189529
rs200189529
HMGCL
C 0.700 GeneticVariation CLINVAR

dbSNP: rs752137615
rs752137615
HMGCL
C 0.700 CausalMutation CLINVAR

dbSNP: rs765198174
rs765198174
HMGCL
T 0.700 GeneticVariation CLINVAR

dbSNP: rs752137615
rs752137615
HMGCL
C 0.700 GeneticVariation CLINVAR 3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency. 8440722

1993
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: rs763494292
rs763494292
HMGCL
A 0.700 CausalMutation CLINVAR A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. 9163320

1997
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: rs763494292
rs763494292
HMGCL
A 0.700 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: rs770225915
rs770225915
HMGCL
A 0.700 GeneticVariation 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