| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129935343, LOC129935344 +1687 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935480, LOC129935481 +1299 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Duplication (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I +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 +1 more) | Congenital hyperammonemia, type I +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Congenital hyperammonemia, type I +2 more | |
| | | Insertion (5 prime UTR variant +2 more) | not specified +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | CPS1-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Indel (5 prime UTR variant +2 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (missense variant +2 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | 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 (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 (nonsense +1 more) | Congenital hyperammonemia, type I | GPathogenic/Likely pathogenic |
| | | 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 (missense variant +1 more) | Congenital hyperammonemia, type I | GConflicting classifications of pathogenicity |
| | | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital hyperammonemia, type I +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital hyperammonemia, type I | |
| | | Deletion (frameshift variant +1 more) | Pulmonary hypertension, neonatal, susceptibility to | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (nonsense +1 more) | Pulmonary hypertension, neonatal, susceptibility to | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (nonsense +1 more) | Pulmonary hypertension, neonatal, susceptibility to | |
| | | 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 (synonymous 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 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (splice donor 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 | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | 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 (splice acceptor variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (nonsense +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 (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) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital hyperammonemia, type I +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | 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 | GConflicting classifications of pathogenicity |
| | | 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 (synonymous variant +1 more) | not specified +2 more | |
| | | Duplication (frameshift variant +1 more) | Pulmonary hypertension, neonatal, susceptibility to +1 more | |
| | | Deletion (frameshift variant +1 more) | Pulmonary hypertension, neonatal, susceptibility to | |
| | | 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 (synonymous variant +1 more) | Congenital hyperammonemia, type I | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I | |