| | ACTBL2, ADAMTS12 +1445 more | Copy number gain | See cases | |
| | LOC129993982, LOC129993983 +265 more | Copy number loss | Intellectual disability | |
| | | Copy number gain | Autism spectrum disorder | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | 3-methylcrotonyl-CoA carboxylase 2 deficiency +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Deletion (frameshift variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (missense variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Deletion (frameshift variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (missense variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Deletion (frameshift variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (missense variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (nonsense) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (missense variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (nonsense) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (missense variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (missense variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (nonsense) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (splice donor variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (splice donor variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (intron variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (intron variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (intron variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (intron variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (intron variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (intron variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (intron variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (splice acceptor variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (missense variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (missense variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (missense variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (nonsense) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (nonsense) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (missense variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (nonsense) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Insertion (intron variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (intron variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (intron variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Duplication (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (intron variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (missense variant) | MCCC2-related disorder | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (missense variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (missense variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (nonsense) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | |