| | LOC126860438, LOC126860439 +3663 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC105379224, LOC105379230 +3657 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999966, LOC129999967 +3111 more | Copy number gain | See cases | |
| | LOC126860489, LOC126860490 +1963 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860535, LOC126860536 +1687 more | Copy number gain | See cases | |
| | LOC105375713, LOC105375742 +1553 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001109, LOC130001110 +1532 more | Copy number gain | See cases | |
| | LOC130001226, LOC130001227 +1407 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000987, LOC130000988 +1205 more | Copy number gain | See cases | |
| | LOC130001173, LOC130001174 +1068 more | Copy number gain | See cases | |
| | LOC130001070, LOC130001071 +962 more | Copy number gain | See cases | |
| | LOC130001241, LOC130001242 +559 more | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | See cases | |
| | LOC130001144, LOC130001145 +745 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | 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) | not provided +1 more | |
| | | 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 (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 | |
| | | 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 +1 more | |
| | | 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) | Primary ciliary dyskinesia +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) | Primary ciliary dyskinesia +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 19 +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 | |