| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 2 | |
| | | Microsatellite (frameshift variant) | Multiple mitochondrial dysfunctions syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple mitochondrial dysfunctions syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple mitochondrial dysfunctions syndrome 2 | |
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