MCCC2, methylcrotonoyl-CoA carboxylase 2, 64087

N. diseases: 50; N. variants: 50
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119103226
rs119103226
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257 2016
dbSNP: rs119103226
rs119103226
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		T 0.800 GeneticVariation CLINVAR Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk. 28018443 2016
dbSNP: rs148773718
rs148773718
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		A 0.800 GeneticVariation CLINVAR 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257 2016
dbSNP: rs148773718
rs148773718
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257 2016
dbSNP: rs150591260
rs150591260
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		A 0.800 GeneticVariation CLINVAR 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257 2016
dbSNP: rs150591260
rs150591260
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		A 0.800 CausalMutation CLINVAR 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257 2016
dbSNP: rs150591260
rs150591260
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257 2016
dbSNP: rs766753795
rs766753795
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		G 0.800 CausalMutation CLINVAR 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257 2016
dbSNP: rs119103226
rs119103226
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 GeneticVariation UNIPROT Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency. 25382614 2015
dbSNP: rs148773718
rs148773718
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 GeneticVariation UNIPROT Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency. 25382614 2015
dbSNP: rs150591260
rs150591260
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 GeneticVariation UNIPROT Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency. 25382614 2015
dbSNP: rs757052602
rs757052602
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		T 0.800 CausalMutation CLINVAR Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. 25356967 2015
dbSNP: rs150591260
rs150591260
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		A 0.800 CausalMutation CLINVAR Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. 25087612 2014
dbSNP: rs119103226
rs119103226
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		T 0.800 GeneticVariation CLINVAR Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. 22150417 2012
dbSNP: rs119103226
rs119103226
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		T 0.800 GeneticVariation CLINVAR Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations. 22030835 2012
dbSNP: rs119103226
rs119103226
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 GeneticVariation UNIPROT Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. 22150417 2012
dbSNP: rs119103226
rs119103226
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 GeneticVariation UNIPROT 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865 2012
dbSNP: rs119103226
rs119103226
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 GeneticVariation UNIPROT A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. 22264772 2012
dbSNP: rs141030969
rs141030969
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		T 0.800 GeneticVariation CLINVAR 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865 2012
dbSNP: rs148773718
rs148773718
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		A 0.800 GeneticVariation CLINVAR 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865 2012
dbSNP: rs148773718
rs148773718
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 GeneticVariation UNIPROT A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. 22264772 2012
dbSNP: rs148773718
rs148773718
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 GeneticVariation UNIPROT 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865 2012
dbSNP: rs148773718
rs148773718
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 GeneticVariation UNIPROT Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. 22150417 2012
dbSNP: rs150591260
rs150591260
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.800 GeneticVariation UNIPROT Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. 22150417 2012
dbSNP: rs150591260
rs150591260
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
CUI: C1859499
Disease:
3-methylcrotonyl CoA carboxylase 2 deficiency 		A 0.800 GeneticVariation CLINVAR 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865 2012