| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia 3 +1 more | |
| | | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia | |
| | | Microsatellite (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (intron variant) | Primary ciliary dyskinesia | |
| | | Deletion (splice acceptor variant +1 more) | Primary ciliary dyskinesia | |
| | DNAAF4-CCPG1, DNAAF4 (E286*) | Single nucleotide variant (non-coding transcript variant +1 more) | Primary ciliary dyskinesia | |
| | | Deletion | Primary ciliary dyskinesia | |
Click to view in NCBI Gene