| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 5 | GConflicting classifications of pathogenicity |
| | ISCA1, LOC130001967 (V10G) | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 5 | |
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