| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Pyruvate dehydrogenase E1-alpha deficiency | |
| | | Single nucleotide variant (intron variant +1 more) | Pyruvate dehydrogenase E1-alpha deficiency | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pyruvate dehydrogenase E1-alpha deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Pyruvate dehydrogenase E1-alpha deficiency | |
| | | Single nucleotide variant (missense variant) | Pyruvate dehydrogenase E1-alpha deficiency | |
| | | Single nucleotide variant (splice donor variant) | Pyruvate dehydrogenase E1-alpha deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Deletion (frameshift variant) | Pyruvate dehydrogenase E1-alpha deficiency | |
| | | Microsatellite (frameshift variant) | Pyruvate dehydrogenase E1-alpha deficiency | |
Click to view in NCBI Gene