| | | Single nucleotide variant (missense variant) | Maple syrup urine disease | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | See cases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Maple syrup urine disease +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Maple syrup urine disease | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Maple syrup urine disease type 2 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Maple syrup urine disease | |
| | | Single nucleotide variant (missense variant +3 more) | Maple syrup urine disease | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +2 more) | Maple syrup urine disease type 1B +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +2 more) | Maple syrup urine disease +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Maple syrup urine disease | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | BCKDHB-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Maple syrup urine disease +1 more | |
| | | 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) | Maple syrup urine disease +1 more | GPathogenic/Likely pathogenic |
| | | Indel (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Maple syrup urine disease +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) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |