| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 24 +1 more | |
| | | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia 24 | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 24 +1 more | |
| | | Deletion (intron variant) | Primary ciliary dyskinesia 24 +2 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +1 more | |
| | | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia 24 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +1 more | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 24 +1 more | |
| | LOC126653391, RSPH1 (R28* +1 more) | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia 24 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia 24 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | RSPH1-related disorder +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | RSPH1-related disorder | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +2 more | |
| | | Microsatellite (frameshift variant) | Primary ciliary dyskinesia 24 | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia | |
| | LOC126653391, RSPH1 (E29*) | Single nucleotide variant (nonsense +1 more) | Primary ciliary dyskinesia +2 more | |