| | | Copy number gain | See cases | |
| | LOC129999937, LOC129999938 +3658 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860501, LOC126860502 +3652 more | Copy number gain | See cases | |
| | MIR7705, MIR7848 +3656 more | Copy number gain | See cases | |
| | LOC130000156, LOC130000157 +3106 more | Copy number gain | See cases | |
| | LINC02894, LINC02906 +1960 more | Copy number gain | See cases | |
| | LOC130001211, LOC130001212 +1690 more | Copy number gain | See cases | |
| | LOC130001139, LOC130001140 +1686 more | Copy number gain | See cases | |
| | LOC126860518, LOC126860519 +1552 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000964, LOC130000965 +1531 more | Copy number gain | See cases | |
| | LOC130000908, LOC130000909 +1406 more | Copy number gain | See cases | |
| | LOC130001371, LOC130001372 +1329 more | Copy number gain | See cases | |
| | LOC130000846, LOC130000847 +96 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000829, LOC130000830 +2 more | Deletion | Primary ciliary dyskinesia 28 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion | Primary ciliary dyskinesia 28 | |
| | | Deletion | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 28 +1 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 28 +1 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (splice donor variant) | Primary ciliary dyskinesia 28 | |
| | | 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 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 28 +1 more | |
| | | Duplication (frameshift variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (synonymous 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 (missense variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (intron variant) | VPS13B-related disorder +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia 28 | |
| | | Duplication (frameshift variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia 28 | |
| | | Microsatellite (inframe_deletion) | Primary ciliary dyskinesia 28 | |
| | | Deletion (frameshift variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +1 more | |
| | | Single nucleotide variant (missense variant) | SPAG1-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | ANKRD46, ATP6V1C1 +234 more | Copy number loss | See cases | |
| | | Deletion (splice acceptor variant +1 more) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 28 +1 more | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 28 | |
| | | Deletion (intron variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 28 | |
| | | Duplication (intron variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (synonymous variant) | SPAG1-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (splice donor variant) | Primary ciliary dyskinesia 28 | |
| | | Deletion (intron variant) | Primary ciliary dyskinesia 28 | |
| | | Duplication (intron variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 28 | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 28 +1 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (synonymous variant) | SPAG1-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 28 | |
| | | Deletion (frameshift variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 28 +1 more | |