| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC130004555, LOC130004556 +375 more | Copy number loss | See cases | |
| | LOC126861015, LOC129390222 +63 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
Click to view in NCBI Gene