| | | Deletion | Ornithine aminotransferase deficiency | |
| | | Deletion | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (nonsense +2 more) | Ornithine aminotransferase deficiency | |
| | | Deletion (frameshift variant +1 more) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (nonsense) | Ornithine aminotransferase deficiency | |
| | | Duplication (frameshift variant) | Ornithine aminotransferase deficiency | |
| | | Duplication (frameshift variant +2 more) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | not provided | |
| | LOC121815974, OAT (G110* +3 more) | Single nucleotide variant (nonsense) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (missense variant) | Ornithine aminotransferase deficiency | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (intron variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Ornithine aminotransferase deficiency | |
| | | Deletion (intron variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ornithine aminotransferase deficiency | |
| | | Deletion (intron variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Ornithine aminotransferase deficiency | |
| | | Duplication (intron variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (missense variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Ornithine aminotransferase deficiency | |
| | | Deletion (frameshift variant +2 more) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Ornithine aminotransferase deficiency | |
| | | Duplication (frameshift variant +1 more) | Ornithine aminotransferase deficiency | |
| | | Deletion (nonsense) | Ornithine aminotransferase deficiency | |
| | | Deletion (frameshift variant +1 more) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (splice donor variant +1 more) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Ornithine aminotransferase deficiency | |
| | | Deletion (intron variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (splice donor variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ornithine aminotransferase deficiency | |
| | | Deletion (intron variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Ornithine aminotransferase deficiency | |
| | | Duplication (intron variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Ornithine aminotransferase deficiency | |
| | | Duplication (frameshift variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Ornithine aminotransferase deficiency | |
| | | Deletion (frameshift variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Ornithine aminotransferase deficiency | |
| | ABLIM1, ABRAXAS2 +117 more | Copy number gain | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (nonsense +1 more) | Ornithine aminotransferase deficiency | |
| | | Duplication (nonsense +1 more) | Ornithine aminotransferase deficiency | |
| | | Deletion (frameshift variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (nonsense) | Ornithine aminotransferase deficiency | |
| | | Insertion (frameshift variant) | Ornithine aminotransferase deficiency | |
| | | Deletion (frameshift variant +1 more) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (splice donor variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (splice acceptor variant) | Ornithine aminotransferase deficiency | |
| | LOC121815974, OAT (C115* +3 more) | Single nucleotide variant (nonsense) | Ornithine aminotransferase deficiency | |
| | ABLIM1, ABRAXAS2 +145 more | Copy number gain | Distal trisomy 10q | |
| | | Copy number loss | Distal 10q deletion syndrome | |
| | | Copy number gain | Distal trisomy 10q | |