| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130068621, RNF113A (P40A) | Single nucleotide variant (missense variant) | RNF113A-related disorder | |
| | LOC130068621, RNF113A (K25R) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | LOC130068621, NDUFA1 (L6F) | Single nucleotide variant (missense variant) | NDUFA1-related disorder | |
| | LOC130068621, NDUFA1 (G32R) | Single nucleotide variant (missense variant) | NDUFA1-related disorder +4 more | |
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