| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Pyruvate dehydrogenase E1-alpha deficiency | |
| | | Single nucleotide variant (missense variant) | Pyruvate dehydrogenase complex deficiency | |
| | | Single nucleotide variant (missense variant) | Pyruvate dehydrogenase E1-alpha deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Pyruvate dehydrogenase E1-alpha deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Pyruvate dehydrogenase E1-alpha deficiency | |
| | | Microsatellite (frameshift variant) | Pyruvate dehydrogenase E1-alpha deficiency +1 more | |
| | | Deletion (frameshift variant) | Pyruvate dehydrogenase E1-alpha deficiency | |
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