| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC132090059, PUS1 (Q112* +1 more) | Single nucleotide variant (nonsense) | Myopathy, lactic acidosis, and sideroblastic anemia 1 +1 more | GPathogenic/Likely pathogenic |
| | LOC132090059, PUS1 (R116W +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
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