| | | Copy number gain | See cases | |
| | LOC130060795, LOC130060796 +1753 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | not provided | |
| | | Single nucleotide variant | Primary ciliary dyskinesia | |
| | | Single nucleotide variant | Primary ciliary dyskinesia 17 | |
| | | Single nucleotide variant | Primary ciliary dyskinesia 17 | |
| | | Single nucleotide variant (5 prime UTR variant) | Primary ciliary dyskinesia 17 | |
| | | Single nucleotide variant (5 prime UTR variant) | Primary ciliary dyskinesia 17 | |
| | | Single nucleotide variant (5 prime UTR variant) | Primary ciliary dyskinesia 17 | |
| | | Single nucleotide variant (5 prime UTR variant) | Primary ciliary dyskinesia 17 | |
| | | Single nucleotide variant (5 prime UTR variant) | Primary ciliary dyskinesia 17 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Primary ciliary dyskinesia 17 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Primary ciliary dyskinesia 17 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 17 | |
| | | Microsatellite (inframe_deletion) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +1 more | GConflicting classifications of pathogenicity |
| | | 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 (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia +2 more | GConflicting classifications of pathogenicity |
| | | 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 (missense variant) | Primary ciliary dyskinesia +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense 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) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (splice acceptor variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (splice acceptor 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) | Inborn genetic diseases | |
| | | 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 17 +1 more | |
| | | Duplication (frameshift 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 (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Deletion (splice donor variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +1 more | GConflicting classifications of pathogenicity |
| | | 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) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (nonsense +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (splice donor variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia | |
| | | Deletion (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) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant +2 more) | Primary ciliary dyskinesia +1 more | |
| | | Duplication (frameshift variant +1 more) | Primary ciliary dyskinesia | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +2 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (nonsense +2 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant +2 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (nonsense +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (nonsense +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (nonsense +1 more) | Primary ciliary dyskinesia | |
| | | Indel (missense variant +1 more) | Primary ciliary dyskinesia 17 | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia | |