Gene: MCCC2 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119103226
rs119103226
MCCC2
T 0.800 GeneticVariation CLINVAR Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk. 28018443

2016
dbSNP: rs148773718
rs148773718
MCCC2
A 0.800 GeneticVariation CLINVAR 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257

2016
dbSNP: rs150591260
rs150591260
MCCC2
A 0.800 CausalMutation CLINVAR 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257

2016
dbSNP: rs150591260
rs150591260
MCCC2
A 0.800 GeneticVariation CLINVAR 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257

2016
dbSNP: rs766753795
rs766753795
MCCC2
G 0.800 CausalMutation CLINVAR 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257

2016
dbSNP: rs757052602
rs757052602
MCCC2
T 0.800 CausalMutation CLINVAR Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. 25356967

2015
dbSNP: rs150591260
rs150591260
MCCC2
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
MCCC2
T 0.800 GeneticVariation CLINVAR Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations. 22030835

2012
dbSNP: rs119103226
rs119103226
MCCC2
T 0.800 GeneticVariation CLINVAR Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. 22150417

2012
dbSNP: rs141030969
rs141030969
MCCC2
T 0.800 GeneticVariation CLINVAR 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865

2012
dbSNP: rs148773718
rs148773718
MCCC2
A 0.800 GeneticVariation CLINVAR 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865

2012
dbSNP: rs150591260
rs150591260
MCCC2
A 0.800 GeneticVariation CLINVAR A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. 22264772

2012
dbSNP: rs150591260
rs150591260
MCCC2
A 0.800 GeneticVariation CLINVAR 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865

2012
dbSNP: rs150591260
rs150591260
MCCC2
A 0.800 CausalMutation CLINVAR 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865

2012
dbSNP: rs150591260
rs150591260
MCCC2
A 0.800 CausalMutation CLINVAR A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. 22264772

2012
dbSNP: rs757052602
rs757052602
MCCC2
T 0.800 CausalMutation CLINVAR Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria. 21071250

2011
dbSNP: rs119103226
rs119103226
MCCC2
T 0.800 GeneticVariation CLINVAR Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. 17968484

2007
dbSNP: rs150591260
rs150591260
MCCC2
A 0.800 GeneticVariation CLINVAR Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine. 17908719

2007
dbSNP: rs141030969
rs141030969
MCCC2
T 0.800 GeneticVariation CLINVAR 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. 16010683

2005
dbSNP: rs773774134
rs773774134
MCCC2
T 0.800 GeneticVariation CLINVAR 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. 16010683

2005
dbSNP: rs150591260
rs150591260
MCCC2
A 0.800 CausalMutation CLINVAR The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. 11181649

2001
dbSNP: rs150591260
rs150591260
MCCC2
A 0.800 GeneticVariation CLINVAR The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. 11181649

2001
dbSNP: rs119103219
rs119103219
MCCC2
C 0.800 CausalMutation CLINVAR

dbSNP: rs1554138265
rs1554138265
MCCC2
C 0.700 GeneticVariation CLINVAR 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257

2016
dbSNP: rs1554138265
rs1554138265
MCCC2
C 0.700 GeneticVariation CLINVAR 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865

2012