| | | Single nucleotide variant (missense variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | |
| | | Deletion | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Deletion | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Deletion | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Deletion | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Deletion (frameshift variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | |
| | | Deletion (frameshift variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | |
| | | Insertion (frameshift variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | |
| | | Deletion (frameshift variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | |
| | | Deletion (frameshift variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | |
| | | Duplication (frameshift variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (splice donor variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (splice donor variant) | Mitochondrial trifunctional protein deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Deletion (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Deletion (frameshift variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Deletion (frameshift variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (splice donor variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Deletion (frameshift variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Deletion (frameshift variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Deletion (nonsense) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Duplication (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Microsatellite (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Duplication (frameshift variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Duplication (frameshift variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Deletion (frameshift variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Duplication (frameshift variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (nonsense) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial trifunctional protein deficiency +1 more | |