Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | CFAP418-related disorder +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 64 | |
Click to view in NCBI Gene