| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia +2 more | GPathogenic/Likely pathogenic |
| | | Indel (frameshift variant) | Primary ciliary dyskinesia 14 | |
| | | Deletion (splice acceptor variant +1 more) | Primary ciliary dyskinesia 14 | |
Click to view in NCBI Gene