| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | PRPF31, PRPF31-AS1 (I114N) | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | PRPF31, PRPF31-AS1 (D134fs) | Deletion (frameshift variant) | Retinal dystrophy | |
Click to view in NCBI Gene