| | LOC130064925, LOC130064926 +1081 more | Copy number gain | See cases | |
| | LOC130064903, LOC130064904 +1093 more | Copy number gain | See cases | |
| | LOC130065082, LOC130065083 +806 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130065034, LOC130065035 +761 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | DNAAF3, DNAAF3-AS1 +18 more | Duplication | Nemaline myopathy 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Primary familial hypertrophic cardiomyopathy +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +10 more | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia +10 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +9 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Primary ciliary dyskinesia | |
| | DNAAF3, DNAAF3-AS1 +1 more | Duplication | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (stop lost) | Primary ciliary dyskinesia +3 more | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Primary ciliary dyskinesia 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +1 more | |
| | | 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 (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 | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Duplication (frameshift variant) | Primary ciliary dyskinesia | |
| | | Indel (missense 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 (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 (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 (synonymous variant) | Primary ciliary dyskinesia +1 more | |
| | | Deletion (frameshift variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | DNAAF3, TNNI3 (V516M +3 more) | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy +6 more | |
| | | 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 (missense variant) | not provided | |
| | DNAAF3, DNAAF3-AS1 (E405D +3 more) | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | DNAAF3, DNAAF3-AS1 (E459A +3 more) | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | DNAAF3, DNAAF3-AS1 (Q505E +3 more) | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | DNAAF3, DNAAF3-AS1 (F400V +3 more) | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | DNAAF3, DNAAF3-AS1 (R453C +3 more) | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | DNAAF3-AS1, DNAAF3 (A398T +3 more) | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | DNAAF3, DNAAF3-AS1 (A398P +3 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | DNAAF3, DNAAF3-AS1 (A512P +3 more) | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | DNAAF3, DNAAF3-AS1 (G511R +3 more) | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | DNAAF3, DNAAF3-AS1 (G384* +3 more) | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia 2 | |
| | DNAAF3, DNAAF3-AS1 (A483T +3 more) | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | DNAAF3, DNAAF3-AS1 (E378K +3 more) | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | DNAAF3, DNAAF3-AS1 (R431S +3 more) | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | DNAAF3, DNAAF3-AS1 (R496W +3 more) | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | DNAAF3, DNAAF3-AS1 (G472R +3 more) | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | DNAAF3, DNAAF3-AS1 (F372fs +3 more) | Duplication (frameshift variant) | Primary ciliary dyskinesia +1 more | GPathogenic/Likely pathogenic |
| | DNAAF3, DNAAF3-AS1 (Q366fs +3 more) | Duplication (frameshift variant) | Primary ciliary dyskinesia | |
| | DNAAF3, DNAAF3-AS1 (R466Q +3 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia | |
| | DNAAF3, DNAAF3-AS1 (R365W +3 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | DNAAF3-AS1, DNAAF3 (V364A +3 more) | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | DNAAF3, DNAAF3-AS1 (V485M +3 more) | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | DNAAF3, DNAAF3-AS1 +1 more | Single nucleotide variant (synonymous variant) | Hypertrophic cardiomyopathy 7 +6 more | GConflicting classifications of pathogenicity |
| | | Inversion (intron variant) | Primary ciliary dyskinesia | |
| | DNAAF3, DNAAF3-AS1 +1 more | Single nucleotide variant (intron variant) | not provided +7 more | |
| | | 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 | |
| | DNAAF3, DNAAF3-AS1 (R460Q +3 more) | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |