| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 73 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 73 +1 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +6 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | See cases | |
Click to view in NCBI Gene