| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (nonsense) | Primary ciliary dyskinesia +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Primary ciliary dyskinesia +2 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +1 more | |
| | | Single nucleotide variant (splice donor variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 3 | |
Click to view in NCBI Gene