| | | Copy number gain | See cases | |
| | LOC130063608, LOC130063609 +484 more | Copy number gain | See cases | |
| | LOC130063636, LOC130063637 +434 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130064390, LOC130064391 +2135 more | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Microsatellite (inframe_deletion) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (missense variant) | ODAD3-related condition +1 more | |
| | | Microsatellite (inframe_deletion) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 30 | |
| | | Duplication (intron variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (intron variant) | ODAD3-related condition +1 more | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (synonymous variant) | ODAD3-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 30 +1 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 30 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 30 | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (synonymous variant) | ODAD3-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 30 | |
| | | Deletion (inframe_deletion) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 30 | |
| | | Duplication (frameshift variant) | Kartagener syndrome | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice acceptor variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 30 | |
| | | Single nucleotide variant (intron variant) | not provided | |