| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Lysinuric protein intolerance | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (splice acceptor variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (nonsense) | Autoinflammatory syndrome +1 more | |
Click to view in NCBI Gene