| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (synonymous variant) | Mitochondrial trifunctional protein deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +3 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | HADHA-related disorder +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial trifunctional protein deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene