Gene: SYCE2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199999619
rs199999619
GCDH ; SYCE2
C 0.700 CausalMutation CLINVAR Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. 15505393

2004
dbSNP: rs199999619
rs199999619
GCDH ; SYCE2
C 0.700 CausalMutation CLINVAR Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families. 11058907

2000
dbSNP: rs745360675
rs745360675
GCDH ; SYCE2
T 0.700 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: rs745360675
rs745360675
GCDH ; SYCE2
T 0.700 CausalMutation CLINVAR Mutation analysis in glutaric aciduria type I. 10699052

2000
dbSNP: rs745360675
rs745360675
GCDH ; SYCE2
T 0.700 CausalMutation CLINVAR Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations. 24973495

2014
dbSNP: rs752127949
rs752127949
GCDH ; SYCE2
T 0.700 CausalMutation CLINVAR Mutation analysis in glutaric aciduria type I. 10699052

2000
dbSNP: rs752127949
rs752127949
GCDH ; SYCE2
T 0.700 CausalMutation CLINVAR Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes. 28302372

2017
dbSNP: rs752127949
rs752127949
GCDH ; SYCE2
T 0.700 CausalMutation CLINVAR Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. 15505393

2004
dbSNP: rs752127949
rs752127949
GCDH ; SYCE2
T 0.700 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: rs752127949
rs752127949
GCDH ; SYCE2
T 0.700 CausalMutation CLINVAR Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany. 17622945

2007
dbSNP: rs754002357
rs754002357
GCDH ; SYCE2
T 0.700 CausalMutation CLINVAR Glutaric aciduria type I in the Arab and Jewish communities in Israel. 8900228

1996
dbSNP: rs754002357
rs754002357
GCDH ; SYCE2
T 0.700 CausalMutation CLINVAR Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients. 25762492

2015
dbSNP: rs754002357
rs754002357
GCDH ; SYCE2
T 0.700 CausalMutation CLINVAR Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. 10960496

2000
dbSNP: rs771924230
rs771924230
GCDH ; SYCE2
G 0.700 CausalMutation CLINVAR

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: rs121434372
rs121434372
GCDH ; SYCE2
0.820 GeneticVariation UNIPROT 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: rs121434372
rs121434372
GCDH ; SYCE2
0.820 GeneticVariation UNIPROT Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I. 14707522

2003
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
0.820 GeneticVariation BEFREE 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
0.820 GeneticVariation UNIPROT Glutaric aciduria type I in the Arab and Jewish communities in Israel. 8900228

1996
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
0.820 GeneticVariation UNIPROT Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations. 24973495

2014
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 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: rs121434372
rs121434372
GCDH ; SYCE2
0.820 GeneticVariation UNIPROT The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. 9600243

1998
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: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 GeneticVariation CLINVAR Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. 15505393

2004