| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.800 | CausalMutation | CLINVAR | Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. | 25356967 | 2015 |
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|
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 |
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|
G | 0.800 | CausalMutation | CLINVAR | 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. | 22642865 | 2012 |
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|
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 |
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|
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 |
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|
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 |
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|
G | 0.800 | CausalMutation | CLINVAR | Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria. | 14680978 | 2003 |
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|
G | 0.800 | CausalMutation | CLINVAR | The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. | 11181649 | 2001 |
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|
G | 0.800 | CausalMutation | CLINVAR | The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. | 11170888 | 2001 |
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|
0.800 | GeneticVariation | UNIPROT |