| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC130000832, SPAG1 (T409S) | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 28 +2 more | GConflicting classifications of pathogenicity |
| | SPAG1, LOC130000832 (P436L) | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +2 more | GConflicting classifications of pathogenicity |
| | LOC130000832, SPAG1 +1 more | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
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