| | | Copy number gain | See cases | |
| | ABHD14A, ABHD14A-ACY1 +329 more | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Insertion (nonsense) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (splice acceptor variant) | Primary ciliary dyskinesia 22 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +1 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 22 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | RASSF1, RASSF1-AS1 +2 more (E337* +1 more) | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia 22 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +2 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +1 more | |
| | | Deletion (frameshift variant) | Primary ciliary dyskinesia 22 | |
| | | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia 22 | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Deletion (frameshift variant) | Primary ciliary dyskinesia 22 | |
| | | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +1 more | |
| | | Single nucleotide variant (nonsense) | ZMYND10-related disorder +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant +1 more) | ZMYND10-related disorder | |