| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | MCCC2-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (nonsense) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | MCCC2-related disorder +1 more | |
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