| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | 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 | |
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