| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC112903839, MRPS22 (M46T) | Single nucleotide variant (missense variant) | Hypotonia with lactic acidemia and hyperammonemia +1 more | |
| | | Single nucleotide variant (missense variant) | Hypotonia with lactic acidemia and hyperammonemia | |
| | | Microsatellite (frameshift variant) | Hypotonia with lactic acidemia and hyperammonemia | |
Click to view in NCBI Gene