| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | not provided +5 more | |
| | | Microsatellite (frameshift variant +1 more) | Inborn genetic diseases +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | Retinitis pigmentosa 3 | |
Click to view in NCBI Gene