| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense) | Joubert syndrome 5 +13 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | CEP290-related disorder +14 more | |
| | | Single nucleotide variant (intron variant) | not provided +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene