| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (nonsense +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pyruvate dehydrogenase E3 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Pyruvate dehydrogenase E3 deficiency | |
| | | Single nucleotide variant (missense variant) | Pyruvate dehydrogenase E3 deficiency +3 more | |
| | | Single nucleotide variant (splice donor variant) | Pyruvate dehydrogenase E3 deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Pyruvate dehydrogenase E3 deficiency | |
| | | Single nucleotide variant (missense variant) | DLD-Related Disorders +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Pyruvate dehydrogenase E3 deficiency | |
| | | Single nucleotide variant (missense variant) | Pyruvate dehydrogenase E3 deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Pyruvate dehydrogenase E3 deficiency | |
| | | Single nucleotide variant (missense variant) | Pyruvate dehydrogenase E3 deficiency | |
| | | Single nucleotide variant (missense variant) | Pyruvate dehydrogenase E3 deficiency | |
Click to view in NCBI Gene