| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +2 more | |
| | LOC129388857, LRPPRC (Q538*) | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | LOC129388857, LRPPRC (S530*) | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene