| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Microsatellite (frameshift variant +1 more) | Hereditary myopathy with lactic acidosis due to ISCU deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Hereditary myopathy with lactic acidosis due to ISCU deficiency | |
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