| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Microsatellite (splice donor variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant +2 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more | |
Click to view in NCBI Gene