| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +3 more) | Pyruvate dehydrogenase E2 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Pyruvate dehydrogenase E2 deficiency | |
| | DLAT, PIH1D2 (I377V +12 more) | Single nucleotide variant (missense variant +1 more) | Pyruvate dehydrogenase E2 deficiency | |
| | DLAT, PIH1D2 (F576L +12 more) | Single nucleotide variant (missense variant +1 more) | Pyruvate dehydrogenase E2 deficiency | GConflicting classifications of pathogenicity |
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