Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057520695
rs1057520695
MCCC1
0.700 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. 16010683

2005
dbSNP: rs1057520695
rs1057520695
MCCC1
0.700 GeneticVariation UNIPROT Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. 22150417

2012
dbSNP: rs1057520695
rs1057520695
MCCC1
0.700 GeneticVariation UNIPROT Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency. 25382614

2015
dbSNP: rs1057520695
rs1057520695
MCCC1
0.700 GeneticVariation UNIPROT Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria. 21071250

2011
dbSNP: rs1057520695
rs1057520695
MCCC1
0.700 GeneticVariation UNIPROT The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. 11170888

2001
dbSNP: rs1057520695
rs1057520695
MCCC1
0.700 GeneticVariation UNIPROT Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. 11406611

2001
dbSNP: rs1057520695
rs1057520695
MCCC1
0.700 GeneticVariation UNIPROT 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865

2012
dbSNP: rs1057520695
rs1057520695
MCCC1
0.700 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257

2016
dbSNP: rs1057520695
rs1057520695
MCCC1
0.700 GeneticVariation UNIPROT The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. 11181649

2001
dbSNP: rs1057520695
rs1057520695
MCCC1
0.700 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: rs1057520695
rs1057520695
MCCC1
0.700 GeneticVariation UNIPROT Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. 17968484

2007
dbSNP: rs119103212
rs119103212
MCCC1
C 0.800 GeneticVariation CLINVAR Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria. 14680978

2003
dbSNP: rs119103212
rs119103212
MCCC1
0.800 GeneticVariation UNIPROT

dbSNP: rs119103212
rs119103212
MCCC1
C 0.800 GeneticVariation CLINVAR The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. 11170888

2001
dbSNP: rs119103212
rs119103212
MCCC1
C 0.800 GeneticVariation CLINVAR Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. 25356967

2015
dbSNP: rs119103213
rs119103213
MCCC1
G 0.800 CausalMutation CLINVAR Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. 16835865

2006
dbSNP: rs119103213
rs119103213
MCCC1
0.800 GeneticVariation UNIPROT

dbSNP: rs119103213
rs119103213
MCCC1
G 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: rs119103213
rs119103213
MCCC1
G 0.800 CausalMutation CLINVAR The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. 11181649

2001
dbSNP: rs119103213
rs119103213
MCCC1
G 0.800 CausalMutation CLINVAR 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. 16010683

2005
dbSNP: rs119103213
rs119103213
MCCC1
G 0.800 CausalMutation CLINVAR Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria. 14680978

2003
dbSNP: rs119103213
rs119103213
MCCC1
G 0.800 CausalMutation CLINVAR 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865

2012
dbSNP: rs119103213
rs119103213
MCCC1
G 0.800 CausalMutation CLINVAR Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. 25356967

2015
dbSNP: rs119103213
rs119103213
MCCC1
G 0.800 CausalMutation CLINVAR The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. 11170888

2001
dbSNP: rs119103213
rs119103213
MCCC1
G 0.800 CausalMutation CLINVAR Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. 15359379

2004