| | | Single nucleotide variant (intron variant) | 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 | |
| | | Deletion (frameshift variant +1 more) | Congenital hyperammonemia, type I | |
| | | Duplication | Congenital hyperammonemia, type I | |
| | | Deletion | Congenital hyperammonemia, type I | |
| | | Deletion | Congenital hyperammonemia, type I | |
| | | Deletion | Congenital hyperammonemia, type I | |
| | | Deletion | Congenital hyperammonemia, type I | |
| | | Deletion | Congenital hyperammonemia, type I | |
| | | Deletion | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (missense variant +1 more) | Pulmonary hypertension, neonatal, susceptibility to +1 more | |
| | | 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 (missense variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (splice acceptor 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 (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 +1 more | GPathogenic/Likely pathogenic |
| | | 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 (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 (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 (non-coding transcript 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 (synonymous 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 | |