Gene: GCDH ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434373
rs121434373
GCDH
C 0.820 CausalMutation CLINVAR Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases. 30570710

2019
dbSNP: rs121434373
rs121434373
GCDH
C 0.820 CausalMutation CLINVAR Newborn screening: A disease-changing intervention for glutaric aciduria type 1. 29665094

2018
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 CausalMutation CLINVAR We report the allele frequencies for three known GA-I LE GCDH variants (M405V, V400M and R227P) and note that both the M405V and V400M variants are significantly more common in the population of African ancestry compared to the general population. 27397597

2016
dbSNP: rs121434373
rs121434373
GCDH
C 0.820 CausalMutation CLINVAR Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis. 23395213

2013
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 CausalMutation CLINVAR Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia. 21912879

2012
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 GeneticVariation CLINVAR Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia. 21912879

2012
dbSNP: rs121434373
rs121434373
GCDH
C 0.820 CausalMutation CLINVAR Glutaric acidemia type 1: outcomes before and after expanded newborn screening. 22728054

2012
dbSNP: rs121434373
rs121434373
GCDH
C 0.820 CausalMutation CLINVAR Speech disturbances in patients with dystonia or chorea due to neurometabolic disorders. 20629163

2010
dbSNP: rs121434373
rs121434373
GCDH
C 0.820 CausalMutation CLINVAR Glutaric aciduria type I: outcome following detection by newborn screening. 18683078

2008
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 CausalMutation CLINVAR Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. 15505393

2004
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 GeneticVariation CLINVAR Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. 15505393

2004
dbSNP: rs121434373
rs121434373
GCDH
C 0.820 CausalMutation CLINVAR Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. 15505393

2004
dbSNP: rs121434373
rs121434373
GCDH
C 0.820 CausalMutation CLINVAR Profound neurological presentation resulting from homozygosity for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype. 12872844

2003
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 CausalMutation CLINVAR Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. 10960496

2000
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 GeneticVariation CLINVAR Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. 10960496

2000
dbSNP: rs121434373
rs121434373
GCDH
C 0.820 CausalMutation CLINVAR Mutation analysis in glutaric aciduria type I. 10699052

2000
dbSNP: rs121434373
rs121434373
GCDH
C 0.820 CausalMutation CLINVAR Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I. 11073722

2000
dbSNP: rs121434373
rs121434373
GCDH
C 0.820 CausalMutation CLINVAR Prenatal molecular diagnosis of glutaric aciduria type I by direct mutation analysis. 11015709

2000
dbSNP: rs121434373
rs121434373
GCDH
C 0.820 CausalMutation CLINVAR Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. 10960496

2000
dbSNP: rs121434373
rs121434373
GCDH
C 0.820 CausalMutation CLINVAR Biochemistry of glutaric aciduria type I: activities of in vitro expressed wild-type and mutant cDNA encoding human glutaryl-CoA dehydrogenase. 10384381

1999
dbSNP: rs121434373
rs121434373
GCDH
C 0.820 CausalMutation CLINVAR Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria. 10066389

1999
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 GeneticVariation CLINVAR Both siblings have high residual glutaryl-CoA dehydrogenase activity, and are compound heterozygotes for two mutations - R227P and V400M reported to be disease-causing in patients with glutaric aciduria type I. 9881681

1998
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 GeneticVariation CLINVAR Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations. 9711871

1998
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 CausalMutation CLINVAR Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion. 9266361

1997
dbSNP: rs121434373
rs121434373
GCDH
C 0.820 CausalMutation CLINVAR Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion. 9266361

1997