| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Lamb-Shaffer syndrome +5 more | |
| | | Single nucleotide variant (nonsense) | Blindness +13 more | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | MEFV-related disorder +24 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene