| | | Single nucleotide variant (missense variant +1 more) | Congenital hyperammonemia, type I +3 more | GConflicting classifications of pathogenicity |
| | | Indel (missense variant +1 more) | Pulmonary hypertension, neonatal, susceptibility to +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pulmonary hypertension, neonatal, susceptibility to +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pulmonary hypertension, neonatal, susceptibility to +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Congenital hyperammonemia, type I +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital hyperammonemia, type I +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Congenital hyperammonemia, type I +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital hyperammonemia, type I +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | 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 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Congenital hyperammonemia, type I +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Pulmonary hypertension, neonatal, susceptibility to +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Congenital hyperammonemia, type I +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pulmonary hypertension, neonatal, susceptibility to +1 more | |
| | | Deletion (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital hyperammonemia, type I +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pulmonary hypertension, neonatal, susceptibility to +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (stop lost +1 more) | Pulmonary hypertension, neonatal, susceptibility to +1 more | |