| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Retinitis pigmentosa +3 more | |
| | | Deletion (frameshift variant +1 more) | Retinitis pigmentosa 28 +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Retinitis pigmentosa 28 +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +2 more | |
| | FAM161A, LOC129933843 (E47Q) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
Click to view in NCBI Gene