| | | Single nucleotide variant (missense variant +1 more) | Maple syrup urine disease | |
| | | Deletion | Maple syrup urine disease | |
| | | Duplication (frameshift variant) | Maple syrup urine disease +3 more | |
| | | Deletion (frameshift variant) | Maple syrup urine disease +2 more | |
| | | Microsatellite (inframe_insertion) | Maple syrup urine disease | |
| | | Single nucleotide variant (nonsense) | Maple syrup urine disease | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Maple syrup urine disease type 1A +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Maple syrup urine disease | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Maple syrup urine disease | |
| | | Single nucleotide variant (missense variant) | Maple syrup urine disease | |
| | | Single nucleotide variant (missense variant) | Maple syrup urine disease type 1A +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Maple syrup urine disease type 1A +1 more | |
| | | Single nucleotide variant (missense variant) | Maple syrup urine disease | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Maple syrup urine disease | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Maple syrup urine disease | |
| | | Single nucleotide variant (nonsense) | Maple syrup urine disease +1 more | |
| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Maple syrup urine disease type 1A +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (nonsense) | Maple syrup urine disease +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (nonsense) | Maple syrup urine disease | |
| | | Deletion (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Maple syrup urine disease +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Maple syrup urine disease +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Maple syrup urine disease | GPathogenic/Likely pathogenic |
| | | Deletion (splice donor variant) | Maple syrup urine disease | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Maple syrup urine disease | |
| | | Single nucleotide variant (nonsense) | Maple syrup urine disease | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion) | Maple syrup urine disease | |
| | | Deletion (inframe_indel) | Maple syrup urine disease type 1A +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant) | Maple syrup urine disease | |