Gene: GCDH ×
Source: CLINVAR ×
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 Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1. 27672653

2019
dbSNP: rs398123190
rs398123190
GCDH ; SYCE2
C 0.700 GeneticVariation CLINVAR Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1. 27672653

2019
dbSNP: rs761765983
rs761765983
GCDH
A 0.700 GeneticVariation CLINVAR Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1. 27672653

2019
dbSNP: rs761765983
rs761765983
GCDH
A 0.700 CausalMutation CLINVAR Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1. 27672653

2019
dbSNP: rs1273164833
rs1273164833
GCDH
A 0.700 GeneticVariation CLINVAR Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture. 28062662

2017
dbSNP: rs1555749853
rs1555749853
GCDH
C 0.700 GeneticVariation CLINVAR Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture. 28062662

2017
dbSNP: rs1555750542
rs1555750542
GCDH
ACTCG 0.700 GeneticVariation CLINVAR Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene. 27476540

2017
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: rs886043840
rs886043840
GCDH
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I. 28389991

2017
dbSNP: rs886043840
rs886043840
GCDH
T 0.700 GeneticVariation CLINVAR Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I. 28389991

2017
dbSNP: rs886043840
rs886043840
GCDH
T 0.700 GeneticVariation CLINVAR Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture. 28062662

2017
dbSNP: rs1057517410
rs1057517410
GCDH
G 0.700 GeneticVariation CLINVAR Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia. 27629047

2016
dbSNP: rs748275416
rs748275416
GCDH
A 0.700 CausalMutation CLINVAR Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India. 26071121

2016
dbSNP: rs758137643
rs758137643
GCDH
T 0.700 GeneticVariation CLINVAR Clinical and molecular investigation in Chinese patients with glutaric aciduria type I. 26656312

2016
dbSNP: rs758503371
rs758503371
GCDH
T 0.700 GeneticVariation CLINVAR Recurrent rhabdomyolysis and glutaric aciduria type I: a case report and literature review. 27351573

2016
dbSNP: rs761765983
rs761765983
GCDH
A 0.700 GeneticVariation CLINVAR Clinical and molecular investigation in Chinese patients with glutaric aciduria type I. 26656312

2016
dbSNP: rs761765983
rs761765983
GCDH
A 0.700 CausalMutation CLINVAR Clinical and molecular investigation in Chinese patients with glutaric aciduria type I. 26656312

2016
dbSNP: rs794726972
rs794726972
GCDH
T 0.700 GeneticVariation CLINVAR The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors. 27397597

2016
dbSNP: rs886043840
rs886043840
GCDH
T 0.700 CausalMutation CLINVAR Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India. 26071121

2016
dbSNP: rs886043840
rs886043840
GCDH
T 0.700 GeneticVariation CLINVAR Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India. 26071121

2016
dbSNP: rs1057516521
rs1057516521
GCDH
A 0.700 GeneticVariation CLINVAR Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing. 25255367

2015
dbSNP: rs1273164833
rs1273164833
GCDH
A 0.700 GeneticVariation CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979

2015
dbSNP: rs199999619
rs199999619
GCDH ; SYCE2
G 0.700 GeneticVariation 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 Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation. 25256449

2015
dbSNP: rs200639270
rs200639270
GCDH
A 0.700 GeneticVariation CLINVAR Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing. 25255367

2015