| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Deletion | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (missense variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more | |
Click to view in NCBI Gene