Gene: SYCE2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434368
rs121434368
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR

dbSNP: rs567564095
rs567564095
GCDH ; SYCE2
A 0.800 CausalMutation CLINVAR

dbSNP: rs147611168
rs147611168
GCDH ; SYCE2
T 0.710 CausalMutation CLINVAR

dbSNP: rs1568429257
rs1568429257
GCDH ; SYCE2
GT 0.700 GeneticVariation CLINVAR

dbSNP: rs771924230
rs771924230
GCDH ; SYCE2
G 0.700 CausalMutation CLINVAR

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: rs776082304
rs776082304
GCDH ; SYCE2
A 0.700 GeneticVariation CLINVAR Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli. 8541831

1995
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: 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: 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 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: 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: 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: 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: rs372983141
rs372983141
GCDH ; SYCE2
C 0.800 GeneticVariation CLINVAR Glutaric aciduria type I in the Arab and Jewish communities in Israel. 8900228

1996
dbSNP: rs754002357
rs754002357
GCDH ; SYCE2
T 0.700 GeneticVariation 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 aciduria type I in the Arab and Jewish communities in Israel. 8900228

1996
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: 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: 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: 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: rs150938052
rs150938052
GCDH ; SYCE2
T 0.800 GeneticVariation CLINVAR Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations. 9711871

1998
dbSNP: rs778153326
rs778153326
GCDH ; SYCE2
C 0.800 GeneticVariation CLINVAR Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations. 9711871

1998
dbSNP: rs786204626
rs786204626
GCDH ; SYCE2
A 0.800 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 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