| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Branched-chain keto acid dehydrogenase kinase deficiency | |
| | | Single nucleotide variant (splice donor variant) | Branched-chain keto acid dehydrogenase kinase deficiency | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Branched-chain keto acid dehydrogenase kinase deficiency | |
Click to view in NCBI Gene