| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +2 more) | Pyruvate dehydrogenase E2 deficiency +3 more | |
| | | Single nucleotide variant (synonymous variant +4 more) | DLAT-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Pyruvate dehydrogenase E2 deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | DLAT-related disorder +2 more | |
| | | Single nucleotide variant (intron variant) | DLAT-related disorder | |
| | | Single nucleotide variant (intron variant) | Pyruvate dehydrogenase E2 deficiency +1 more | |
Click to view in NCBI Gene