| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Maple syrup urine disease type 1A +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Maple syrup urine disease type 1A | |
| | | Deletion (frameshift variant) | Maple syrup urine disease type 1A | |
Click to view in NCBI Gene