| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130063608, LOC130063609
+484 more | Copy number gain | See cases | |
| | FDX2-ZGLP1, LOC130063486
+1 more (E56del) | Microsatellite (inframe_deletion) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy +2 more | |
Click to view in NCBI Gene