| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Citrin deficiency +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +6 more | |
| | | Single nucleotide variant (intron variant) | Citrullinemia type I +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Citrin deficiency +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal intrahepatic cholestasis due to citrin deficiency +2 more | |
Click to view in NCBI Gene