| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Pyruvate dehydrogenase E1-alpha deficiency | |
| | | Single nucleotide variant (missense variant) | Pyruvate dehydrogenase E1-alpha deficiency | |
| | | Duplication (frameshift variant) | Pyruvate dehydrogenase E1-alpha deficiency | |
| | | Single nucleotide variant (nonsense) | Pyruvate dehydrogenase E1-alpha deficiency | |
| | | Single nucleotide variant (missense variant) | Pyruvate dehydrogenase complex deficiency | |
Click to view in NCBI Gene