| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130009240, PUS1 (C14fs +1 more) | Duplication (frameshift variant) | Myopathy, lactic acidosis, and sideroblastic anemia 1 | |
| | LOC130009240, PUS1 (P8fs +1 more) | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | LOC130009240, PUS1 (Q16fs +1 more) | Duplication (frameshift variant) | Myopathy, lactic acidosis, and sideroblastic anemia 1 | |
| | LOC130009240, PUS1 (E32fs +1 more) | Deletion (frameshift variant) | Myopathy, lactic acidosis, and sideroblastic anemia 1 | |
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