| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC00578, LINC00880 +1317 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129937828, LOC129937829 +1244 more | Copy number gain | See cases | |
| | LOC129938023, LOC129938024 +1200 more | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +1064 more | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +627 more | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +1041 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +866 more | Copy number gain | See cases | |
| | | Duplication | Currarino triad | |
| | LOC129938004, LOC129938005 +399 more | Copy number loss | See cases | |
| | ABCC5, ABCC5-AS1 +205 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | 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) | not provided +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) | not provided +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 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Duplication (frameshift 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) | 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) | MCCC1-related condition +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (splice acceptor variant) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Microsatellite (intron variant) | 3-methylcrotonyl-CoA carboxylase 1 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) | 3-methylcrotonyl-CoA carboxylase 1 deficiency +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 condition +1 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) | 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | MCCC1-related condition +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) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +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) | not provided +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 |
| | | 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 | |