| | | Single nucleotide variant (splice donor variant) | Hypotonia with lactic acidemia and hyperammonemia | |
| | | Single nucleotide variant (missense variant) | Hypotonia with lactic acidemia and hyperammonemia | |
| | | Single nucleotide variant (nonsense) | Hypotonia with lactic acidemia and hyperammonemia | |
| | | Duplication (frameshift variant) | Hypotonia with lactic acidemia and hyperammonemia | |
| | | Deletion (frameshift variant) | Hypotonia with lactic acidemia and hyperammonemia | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hypotonia with lactic acidemia and hyperammonemia | |
| | | Microsatellite (frameshift variant) | Hypotonia with lactic acidemia and hyperammonemia | |
| | | Single nucleotide variant (missense variant) | Hypotonia with lactic acidemia and hyperammonemia | |
| | LOC112903839, MRPS22 (M46T) | Single nucleotide variant (missense variant) | Hypotonia with lactic acidemia and hyperammonemia +1 more | |
| | MRPS22, LOC112903839 (E56K) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | LOC112903839, MRPS22 (R22G) | Single nucleotide variant (missense variant) | Hypotonia with lactic acidemia and hyperammonemia | |
| | | Single nucleotide variant (intron variant) | Hypotonia with lactic acidemia and hyperammonemia | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Hypotonia with lactic acidemia and hyperammonemia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypotonia with lactic acidemia and hyperammonemia | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | MRPS22-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Hypotonia with lactic acidemia and hyperammonemia | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | MRPS22-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypotonia with lactic acidemia and hyperammonemia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | MRPS22-related condition +3 more | |
| | | Single nucleotide variant (missense variant) | Hypotonia with lactic acidemia and hyperammonemia | |
| | | Single nucleotide variant (missense variant) | Hypotonia with lactic acidemia and hyperammonemia +2 more | GPathogenic/Likely pathogenic |