| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (intron variant) | Pigmentary retinal dystrophy +4 more | |
| | | Single nucleotide variant (synonymous variant) | Pigmentary retinal dystrophy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Pigmentary retinal dystrophy +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Newfoundland cone-rod dystrophy +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene