| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (stop lost) | Primary ciliary dyskinesia 2 +2 more | |
| | DNAAF3, DNAAF3-AS1 (G384* +3 more) | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia 2 | |
| | DNAAF3, DNAAF3-AS1 +1 more | Deletion (splice donor variant) | Primary ciliary dyskinesia 2 +2 more | GConflicting classifications of pathogenicity |
| | DNAAF3, DNAAF3-AS1 (Q247* +3 more) | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia +1 more | GPathogenic/Likely pathogenic |
| | DNAAF3-AS1, DNAAF3 (T365M +3 more) | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +1 more | |
| | DNAAF3, DNAAF3-AS1 (G305A +3 more) | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +2 more | |
| | | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia 2 | |
Click to view in NCBI Gene