| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant) | Primary ciliary dyskinesia 24 | |
| | | Single nucleotide variant (splice acceptor variant) | Primary ciliary dyskinesia 24 +3 more | |
| | LOC126653391, RSPH1 (E29*) | Single nucleotide variant (nonsense +1 more) | Primary ciliary dyskinesia +1 more | |
Click to view in NCBI Gene