Gene: SYCE2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs567564095
rs567564095
GCDH ; SYCE2
A 0.800 CausalMutation CLINVAR

dbSNP: rs786204626
rs786204626
GCDH ; SYCE2
A 0.800 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: rs786204626
rs786204626
GCDH ; SYCE2
A 0.800 CausalMutation CLINVAR Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity. 28438223

2017
dbSNP: rs786204626
rs786204626
GCDH ; SYCE2
A 0.800 CausalMutation CLINVAR Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1. 24332224

2014
dbSNP: rs786204626
rs786204626
GCDH ; SYCE2
A 0.800 CausalMutation CLINVAR Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases. 28352331

2017
dbSNP: rs786204626
rs786204626
GCDH ; SYCE2
A 0.800 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: rs786204626
rs786204626
GCDH ; SYCE2
A 0.800 CausalMutation CLINVAR Glutaric aciduria type 1 in South Africa-high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans. 20732827

2011
dbSNP: rs786204626
rs786204626
GCDH ; SYCE2
A 0.800 CausalMutation CLINVAR Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. 15505393

2004
dbSNP: rs786204626
rs786204626
GCDH ; SYCE2
A 0.800 CausalMutation CLINVAR Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I. 11073722

2000
dbSNP: rs141437721
rs141437721
GCDH ; SYCE2
G 0.710 CausalMutation CLINVAR Seizures versus dystonia in encephalopathic crisis of glutaric aciduria type I. 19433275

2009
dbSNP: rs141437721
rs141437721
GCDH ; SYCE2
G 0.710 CausalMutation CLINVAR Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from Israel. 17188916

2007
dbSNP: rs141437721
rs141437721
GCDH ; SYCE2
G 0.710 CausalMutation CLINVAR Use of guidelines improves the neurological outcome in glutaric aciduria type I. 21031586

2010
dbSNP: rs141437721
rs141437721
GCDH ; SYCE2
G 0.710 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: rs141437721
rs141437721
GCDH ; SYCE2
G 0.710 CausalMutation CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979

2015
dbSNP: rs147611168
rs147611168
GCDH ; SYCE2
A 0.710 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: rs147611168
rs147611168
GCDH ; SYCE2
T 0.710 CausalMutation CLINVAR

dbSNP: rs147611168
rs147611168
GCDH ; SYCE2
A 0.710 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: rs147611168
rs147611168
GCDH ; SYCE2
A 0.710 CausalMutation CLINVAR Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. 19433437

2009
dbSNP: rs147611168
rs147611168
GCDH ; SYCE2
A 0.710 CausalMutation CLINVAR Five Lumbee individuals with GA-I had homozygous 1240G>A mutations in GCD. 16466958

2006
dbSNP: rs199999619
rs199999619
GCDH ; SYCE2
C 0.700 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: rs199999619
rs199999619
GCDH ; SYCE2
C 0.700 CausalMutation CLINVAR Genetic and biochemical study in a patient with glutaric acidemia type I. 15318278

2004
dbSNP: rs199999619
rs199999619
GCDH ; SYCE2
C 0.700 CausalMutation CLINVAR Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1. 27672653

2019
dbSNP: rs199999619
rs199999619
GCDH ; SYCE2
C 0.700 CausalMutation CLINVAR Novel mutation and prenatal sonographic findings of glutaric aciduria (type I) in two Taiwanese families. 12210585

2002
dbSNP: rs199999619
rs199999619
GCDH ; SYCE2
C 0.700 CausalMutation CLINVAR Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1. 21176883

2011
dbSNP: rs199999619
rs199999619
GCDH ; SYCE2
C 0.700 CausalMutation CLINVAR Glutaric aciduria type I: outcome following detection by newborn screening. 18683078

2008