| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 8 +6 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Joubert syndrome 24 +6 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene