| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC132090059, PUS1 (R94Q +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | LOC132090059, PUS1 (D105N +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Myopathy, lactic acidosis, and sideroblastic anemia 1 +2 more | |
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