| | LOC129937268, LOC129937269 +2645 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129938007, LOC129938008 +1317 more | Copy number gain | See cases | |
| | LOC129938312, LOC129938313 +1246 more | Copy number gain | See cases | |
| | LOC129937897, LOC129937898 +1244 more | Copy number gain | See cases | |
| | LOC129938023, LOC129938024 +1200 more | Copy number gain | See cases | |
| | LOC129938326, LOC129938327 +1064 more | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +627 more | Copy number gain | See cases | |
| | LOC129938320, LOC129938321 +1041 more | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +867 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication | Currarino triad | |
| | LINC01206, ACTL6A +44 more | Deletion | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 14 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 14 | |
| | | Microsatellite (3 prime UTR variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 14 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 14 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 14 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 14 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 14 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 14 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 14 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 14 | |
| | | Duplication (3 prime UTR variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 14 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 14 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 14 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 14 | |
| | | Duplication (3 prime UTR variant +1 more) | Primary ciliary dyskinesia | |
| | | Duplication (3 prime UTR variant +1 more) | Primary ciliary dyskinesia | |
| | | Duplication (3 prime UTR variant +1 more) | Primary ciliary dyskinesia | |
| | | Duplication (3 prime UTR variant +1 more) | Primary ciliary dyskinesia | |
| | | Insertion (3 prime UTR variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 14 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 14 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 14 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 14 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 14 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 14 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 14 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 14 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 14 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 14 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 14 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 14 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Primary ciliary dyskinesia | |
| | | Duplication (inframe insertion +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia 14 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous 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 (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 (synonymous variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Primary ciliary dyskinesia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (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) | 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) | 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) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 14 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Primary ciliary dyskinesia | |
| | | Duplication (frameshift variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous 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 (missense variant +1 more) | Primary ciliary dyskinesia +1 more | |
| | | Single nucleotide variant (synonymous 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 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Primary ciliary dyskinesia | |
| | | Deletion (frameshift variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (nonsense +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia | |
| | | Indel (intron variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia | |
| | | Deletion (intron variant) | Primary ciliary dyskinesia | |