| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | |
| | | Duplication (frameshift variant +1 more) | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | |
| | | Single nucleotide variant (intron variant +1 more) | See cases | |
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