| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130000832, SPAG1 (T409S) | Single nucleotide variant (missense variant) | SPAG1-related condition +2 more | GConflicting classifications of pathogenicity |
| | LOC130000832, SPAG1 (I472V) | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +2 more | |
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