| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Pyruvate dehydrogenase E2 deficiency +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Pyruvate dehydrogenase E2 deficiency +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pyruvate dehydrogenase E2 deficiency +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | |
Click to view in NCBI Gene