| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | IFT140, LOC126862260 (E1024*) | Single nucleotide variant (nonsense) | Retinitis pigmentosa 80 | |
| | | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome +1 more | |
Click to view in NCBI Gene