| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (intron variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice acceptor variant +1 more) | Severe early-childhood-onset retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +12 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance |
| | | Single nucleotide variant (intron variant) | Severe early-childhood-onset retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene