| | | Single nucleotide variant (3 prime UTR variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Deletion (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Duplication (frameshift variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Duplication (frameshift variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Deletion (frameshift variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (splice acceptor variant) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (splice acceptor variant) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Microsatellite (intron variant) | Methylcrotonyl-CoA carboxylase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (intron variant) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (intron variant) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (intron variant) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (intron variant) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | MCCC1-related disorder +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency +1 more | |
| | | Deletion (frameshift variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Deletion (frameshift variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Deletion (intron variant) | 3-methylcrotonyl-CoA carboxylase 1 deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | 3-methylcrotonyl-CoA carboxylase 1 deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | 3-methylcrotonyl-CoA carboxylase 1 deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (splice donor variant) | 3-methylcrotonyl-CoA carboxylase 1 deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (intron variant) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (intron variant) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (intron variant) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Duplication (intron variant) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Duplication (frameshift variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Deletion (frameshift variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (nonsense +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (nonsense +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (nonsense +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (splice acceptor variant) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Duplication (intron variant) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (intron variant) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (intron variant) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (splice donor variant) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Deletion (frameshift variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Deletion (frameshift variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |