| | LOC126806176, LOC126806177 +1047 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129933242, LOC129933243 +1631 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129934199, LOC129934200 +2457 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129933291, LOC129933292 +142 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Microsatellite (3 prime UTR variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Microsatellite (3 prime UTR variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial trifunctional protein deficiency +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (3 prime UTR 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 | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (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 (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) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (nonsense) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Duplication (frameshift variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Deletion (frameshift variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Duplication (inframe_insertion) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | |
| | | Duplication (frameshift variant) | Mitochondrial trifunctional protein deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | |
| | | Deletion (frameshift variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (nonsense) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (nonsense) | 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 (nonsense) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Duplication (frameshift variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial trifunctional protein deficiency +2 more | |
| | | Single nucleotide variant (missense variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |
| | | Deletion (frameshift variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant) | HADHA-related condition +2 more | |
| | | Single nucleotide variant (missense 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) | HADHA-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase 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 (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (synonymous 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 (intron variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Insertion (intron variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more | |