Gene: SYCE2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10. 18926513

2008
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Glutaric acidemia type 1: outcomes before and after expanded newborn screening. 22728054

2012
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency. 17478444

2007
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Mutation analysis in glutaric aciduria type I. 10699052

2000
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Genetics, medicine, and the Plain people. 19630565

2009
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. 8900227

1996
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania. 1951469

1991
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity. 28438223

2017
dbSNP: rs121434368
rs121434368
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR

dbSNP: rs121434369
rs121434369
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. 9600243

1998
dbSNP: rs121434369
rs121434369
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. 10960496

2000
dbSNP: rs121434369
rs121434369
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I. 11073722

2000
dbSNP: rs121434369
rs121434369
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. 8900227

1996
dbSNP: rs121434369
rs121434369
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients. 25762492

2015
dbSNP: rs121434369
rs121434369
GCDH ; SYCE2
T 0.810 GeneticVariation CLINVAR We report here for the first time on expression studies of four missense mutations c.412A > G (p.Arg138Gly), c.787A > G (p.Met263Val), c.1204C > T (p.Arg402Trp) and c.1240G > A (p.Glu414Lys) identified in GA1 patients in mammalian cells. 18775954

2008
dbSNP: rs121434369
rs121434369
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Evidence of a single origin for the most frequent mutation (R402W) causing glutaryl-CoA dehydrogenase deficiency: identification of 3 novel polymorphisms and haplotype definition. 10649503

2000
dbSNP: rs121434369
rs121434369
GCDH ; SYCE2
T 0.810 GeneticVariation CLINVAR The commonest GA1 mutation in Europeans is R402W, which accounts for almost 40% of alleles in patients of German origin. 10699052

2000
dbSNP: rs121434369
rs121434369
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation. 25256449

2015
dbSNP: rs121434369
rs121434369
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR The commonest GA1 mutation in Europeans is R402W, which accounts for almost 40% of alleles in patients of German origin. 10699052

2000
dbSNP: rs121434369
rs121434369
GCDH ; SYCE2
T 0.810 GeneticVariation CLINVAR Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. 8900227

1996
dbSNP: rs121434369
rs121434369
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR We conclude that among selected mutations, R402W is the most common mutation found among Indian GA-I patients. 28794906

2017
dbSNP: rs121434369
rs121434369
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations. 24973495

2014
dbSNP: rs121434369
rs121434369
GCDH ; SYCE2
T 0.810 GeneticVariation CLINVAR Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations. 24973495

2014
dbSNP: rs121434369
rs121434369
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR We report here for the first time on expression studies of four missense mutations c.412A > G (p.Arg138Gly), c.787A > G (p.Met263Val), c.1204C > T (p.Arg402Trp) and c.1240G > A (p.Glu414Lys) identified in GA1 patients in mammalian cells. 18775954

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

2004