| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | DLD-Related Disorders +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pyruvate dehydrogenase E3 deficiency +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | DLD-Related Disorders +4 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | DLD-Related Disorders | |
Click to view in NCBI Gene