| | | Duplication (frameshift variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | HADHA-related disorder +4 more | |
| | | Single nucleotide variant (missense variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial trifunctional protein deficiency +3 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (nonsense) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +3 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial trifunctional protein deficiency +5 more | |
| | | Deletion (frameshift variant) | Mitochondrial trifunctional protein deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (nonsense) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Mitochondrial trifunctional protein deficiency +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |