| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Primary ciliary dyskinesia 23 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant +1 more) | Primary ciliary dyskinesia 23 +1 more | |
Click to view in NCBI Gene