| | | Microsatellite (frameshift variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Microsatellite (intron variant) | Succinyl-CoA acetoacetate transferase deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Deletion (intron variant) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Duplication (frameshift variant +1 more) | OXCT1-related condition +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Deletion (intron variant) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Microsatellite (intron variant) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (splice donor variant) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (splice acceptor variant) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinyl-CoA acetoacetate transferase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Deletion (intron variant) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Duplication (intron variant) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | LOC121725203, OXCT1 (T370I +3 more) | Single nucleotide variant (missense variant) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Deletion | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Duplication (frameshift variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (splice donor variant) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinyl-CoA acetoacetate transferase deficiency +1 more | |
| | | Duplication (intron variant) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (nonsense +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (splice acceptor variant) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Indel (missense variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (intron variant) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |