| | LOC129998085, LOC129998086 +904 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC121740684, LOC121740685 +4735 more | Copy number loss | See cases | |
| | LOC129998210, LOC129998211 +1148 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129998072, LOC129998073 +331 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC111365192, LOC111413014 +281 more | Copy number loss | See cases | |
| | ABCB5, ADCYAP1R1 +387 more | Copy number loss | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Indel (frameshift variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia | |
| | | Duplication (inframe_insertion +2 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia 7 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia +1 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Deletion (frameshift 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 (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (nonsense) | 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) | DNAH11-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +2 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 +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) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | 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 (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 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Deletion (frameshift variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Indel (missense variant) | Primary ciliary dyskinesia +2 more | |
| | | Single nucleotide variant (nonsense) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 7 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Duplication (inframe_insertion +1 more) | 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 | |
| | | Microsatellite (inframe_insertion +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Microsatellite (inframe_deletion) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Duplication (inframe_insertion) | Primary ciliary dyskinesia | |
| | | Microsatellite (inframe_deletion) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | GConflicting classifications of pathogenicity |
| | | 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 (nonsense) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Primary ciliary dyskinesia 7 | |
| | | 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 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Deletion (frameshift variant) | Primary ciliary dyskinesia 7 | |
| | | 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 (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |