| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126859939, LOC126859940 +1148 more | Copy number gain | See cases | |
| | LOC129389762, LOC129389763 +1298 more | Copy number gain | See cases | |
| | LOC110120786, LOC110120961 +769 more | Copy number gain | See cases | |
| | LOC129998109, LOC129998110 +560 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ITGB8, ITGB8-AS1 +248 more | Copy number loss | See cases | |
| | LOC129998117, LOC129998118 +287 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129998154, LOC129998155 +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) | Primary ciliary dyskinesia +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 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +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 | 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 (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (nonsense) | DNAH11-related disorder | |
| | | Single nucleotide variant (missense 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 (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 | |
| | | 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) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 7 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +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) | 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 (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 7 +2 more | |
| | | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia 7 +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 +1 more | |
| | | 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 | Primary ciliary dyskinesia | |
| | | Duplication (inframe_insertion) | Primary ciliary dyskinesia | |
| | | Deletion (frameshift variant) | Primary ciliary dyskinesia 7 | |
| | | Microsatellite (inframe_deletion) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | GConflicting classifications of pathogenicity |
| | | 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 (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 | |
| | | Indel (missense variant) | DNAH11-related disorder | |
| | | 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 (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | GConflicting classifications of pathogenicity |