| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (nonsense) | Syndromic retinitis pigmentosa +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Syndromic retinitis pigmentosa +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Intellectual developmental disorder and retinitis pigmentosa; IDDRP +2 more | |
| | | Single nucleotide variant (nonsense) | Syndromic retinitis pigmentosa | |
| | | Single nucleotide variant (missense variant) | Syndromic retinitis pigmentosa | |
Click to view in NCBI Gene