| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Linear skin defects with multiple congenital anomalies 2 | |
| | | Single nucleotide variant (missense variant) | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 | |
| | | Single nucleotide variant | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
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