| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Deficiency of butyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (missense variant) | Deficiency of butyryl-CoA dehydrogenase +2 more | |
| | | Single nucleotide variant (intron variant) | Deficiency of butyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (missense variant +1 more) | Deficiency of butyryl-CoA dehydrogenase | GConflicting classifications of pathogenicity |
| | | 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 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Deficiency of butyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (splice acceptor variant) | Deficiency of butyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (missense variant) | Deficiency of butyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (missense variant) | See cases +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Deficiency of butyryl-CoA dehydrogenase | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Deficiency of butyryl-CoA dehydrogenase +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Deficiency of butyryl-CoA dehydrogenase +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Deficiency of butyryl-CoA dehydrogenase +2 more | GConflicting classifications of pathogenicity |