| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Retinal dystrophy +5 more | |
| | | Microsatellite (frameshift variant +1 more) | Retinitis pigmentosa 3 +4 more | |
| | | Single nucleotide variant (nonsense +1 more) | Retinal dystrophy +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Retinal dystrophy +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Primary ciliary dyskinesia +1 more | |
| | | Microsatellite (frameshift variant +1 more) | Retinal dystrophy +3 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +1 more) | Inborn genetic diseases +8 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +1 more) | Primary ciliary dyskinesia | |
| | | Deletion (frameshift variant +1 more) | Retinitis pigmentosa 3 | |
| | | Single nucleotide variant (intron variant) | Retinal dystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 3 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy +2 more | |
| | | Deletion | Retinitis pigmentosa 3 | |
Click to view in NCBI Gene