| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Senior-Loken syndrome 5 | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +4 more | |
| | | Single nucleotide variant (splice acceptor variant) | Senior-Loken syndrome 5 | |
Click to view in NCBI Gene