| | LOC130000015, LOC130000016 +3658 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110121192, LOC110121196 +3656 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000067, LOC130000068 +3656 more | Copy number gain | See cases | |
| | GPAT4, GPAT4-AS1 +3106 more | Copy number gain | See cases | |
| | LOC130000897, LOC130000898 +1960 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000867, LOC130000868 +1686 more | Copy number gain | See cases | |
| | LOC130001282, LOC130001283 +1552 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000908, LOC130000909 +1406 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001243, LOC130001244 +1204 more | Copy number gain | See cases | |
| | LOC130001328, LOC130001329 +1067 more | Copy number gain | See cases | |
| | LOC114827840, LOC121331310 +961 more | Copy number gain | See cases | |
| | | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | See cases | |
| | LOC129390060, LOC129929031 +745 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130001286, LOC130001287 +206 more | Copy number gain | See cases | |
| | LOC126860527, LOC126860528 +499 more | Copy number gain | See cases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Primary ciliary dyskinesia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (nonsense +1 more) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Primary ciliary dyskinesia 19 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Primary ciliary dyskinesia 19 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (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 19 | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (splice donor variant) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Primary ciliary dyskinesia +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia 19 | |
| | | Deletion (frameshift variant +1 more) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia 19 | |
| | | 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 (missense variant +1 more) | Primary ciliary dyskinesia 19 +1 more | |
| | | Microsatellite (inframe_deletion +1 more) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia | |
| | | Deletion (frameshift variant +1 more) | Primary ciliary dyskinesia 19 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 19 | |