| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number loss | Retinitis pigmentosa 3 | |
| | | Deletion (frameshift variant +1 more) | RPGR-related retinopathy +5 more | |
| | | Deletion (frameshift variant +1 more) | not provided +5 more | |
| | | Deletion (frameshift variant +1 more) | Retinitis pigmentosa 3 +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Retinal dystrophy +1 more | |
| | | Deletion (frameshift variant +1 more) | Retinitis pigmentosa +1 more | |
| | | Microsatellite (frameshift variant +1 more) | Retinitis pigmentosa +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Retinal dystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +1 more) | Retinitis pigmentosa 3 +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Retinitis pigmentosa | |
| | | Microsatellite (frameshift variant +1 more) | Retinal dystrophy +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +1 more) | Primary ciliary dyskinesia +4 more | |
| | | Deletion (frameshift variant +1 more) | Primary ciliary dyskinesia +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +1 more) | Retinitis pigmentosa +7 more | GPathogenic/Likely pathogenic |
| | | Copy number loss | Retinitis pigmentosa 3 | |
| | | Copy number loss | Retinitis pigmentosa 3 | |
Click to view in NCBI Gene