| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Multiple mitochondrial dysfunctions syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 3 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 3 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 74 | |
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 3 | |
| | | Single nucleotide variant (nonsense) | Multiple mitochondrial dysfunctions syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 3 | |
| | | Single nucleotide variant (nonsense) | Multiple mitochondrial dysfunctions syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 3 | |
| | | Deletion (frameshift variant +1 more) | Multiple mitochondrial dysfunctions syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 3 | |
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