| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (splice donor variant) | Retinitis pigmentosa 26 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Retinitis pigmentosa 26 | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | CERKL, LOC129935214 (Q74fs) | Deletion (frameshift variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | CERKL, LOC129935214 (V61E) | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 26 +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene