| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Meckel syndrome, type 6 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Meckel-Gruber syndrome +13 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 5 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 +1 more | |
Click to view in NCBI Gene