Links from MedGen
Items: 10
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency 36 | |
| | LOC101928525, MRPS2 (E164K) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency 36 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Combined oxidative phosphorylation deficiency 36 | |
| | LOC101928525, MRPS2 (G283E) | Single nucleotide variant (missense variant +1 more) | MRPS2-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency 36 +1 more | |
| | LOC101928525, MRPS2 (P288T) | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | LOC101928525, MRPS2 (H134Y) | Single nucleotide variant (non-coding transcript variant +1 more) | Combined oxidative phosphorylation deficiency 36 | |
| | LOC101928525, MRPS2 (R138H) | Single nucleotide variant (non-coding transcript variant +1 more) | Combined oxidative phosphorylation deficiency 36 | GConflicting classifications of pathogenicity |
| | LOC101928525, MRPS2 (D114N) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency 36 +1 more | GConflicting classifications of pathogenicity |
| | LOC101928525, MRPS2 (R110C) | Single nucleotide variant (non-coding transcript variant +1 more) | Combined oxidative phosphorylation deficiency 36 | |
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