| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Maple syrup urine disease | |
| | | Single nucleotide variant (intron variant) | Maple syrup urine disease +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Maple syrup urine disease +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Maple syrup urine disease | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Maple syrup urine disease | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene