| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (frameshift variant) | Cone-rod dystrophy 13 +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Cone-rod dystrophy 13 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (nonsense +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (nonsense +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Deletion (frameshift variant +1 more) | Retinal dystrophy +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Cone-rod dystrophy 13 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Retinal dystrophy +3 more | GPathogenic/Likely pathogenic |
| | | Duplication (nonsense) | Cone-rod dystrophy 13 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Deletion (splice acceptor variant) | Retinal dystrophy +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene