| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Maple syrup urine disease | |
| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (splice donor variant) | Maple syrup urine disease type 1A +2 more | |
| | | Single nucleotide variant (intron variant) | Maple syrup urine disease type 1A +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Maple syrup urine disease +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Maple syrup urine disease +1 more | |
| | | Single nucleotide variant (missense variant) | BCKDHA-related disorder +1 more | GPathogenic/Likely pathogenic |
| | | Indel (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Maple syrup urine disease +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Maple syrup urine disease | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Maple syrup urine disease type 1A +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene