| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital hyperammonemia, type I | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | CPS1-related condition | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital hyperammonemia, type I | |
| | | Deletion (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Deletion (frameshift variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I | |
| | | Duplication (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Deletion (frameshift variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I | |