| | | Single nucleotide variant (missense variant +1 more) | Neonatal intrahepatic cholestasis due to citrin deficiency +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Citrullinemia type I +3 more | |
| | | Single nucleotide variant (missense variant) | Citrullinemia +4 more | |
| | | Single nucleotide variant (synonymous variant) | Citrullinemia type I +1 more | |
| | | Single nucleotide variant (missense variant) | Citrullinemia type I +1 more | |
| | | Single nucleotide variant (missense variant) | Citrullinemia type I +3 more | |
| | | Single nucleotide variant (missense variant) | Citrullinemia type I +3 more | |
| | | Single nucleotide variant (missense variant) | Citrullinemia type I +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Citrullinemia type I +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Citrullinemia type I +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Citrullinemia type I +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Citrullinemia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Citrullinemia type I +3 more | |
| | | Single nucleotide variant (missense variant) | Citrullinemia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Citrullinemia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Citrullinemia type I +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Citrullinemia type I +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Citrullinemia type I +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |