| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +1 more | |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +2 more | |
| | LOC130000832, SPAG1 (A428fs) | Deletion (frameshift variant) | Primary ciliary dyskinesia 28 | GPathogenic/Likely pathogenic |
| | LOC130000832, SPAG1 (A432fs) | Microsatellite (frameshift variant) | Primary ciliary dyskinesia 28 +1 more | GConflicting classifications of pathogenicity |
| | LOC130000832, SPAG1 (I472V) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Primary ciliary dyskinesia 28 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia 28 +1 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 28 | |
| | | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia 28 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 28 +1 more | |
| | | Deletion (frameshift variant) | Primary ciliary dyskinesia 28 | |
Click to view in NCBI Gene