| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (3 prime UTR variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Pyruvate dehydrogenase complex deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pyruvate dehydrogenase complex deficiency | |
| | | Duplication (splice acceptor variant) | not provided +1 more | |
| | | Duplication (inframe_insertion) | Pyruvate dehydrogenase complex deficiency | |
Click to view in NCBI Gene