| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion | not provided | |
| | | Deletion | Pyruvate dehydrogenase E1-beta deficiency | |
Click to view in NCBI Gene