| | | Deletion (intron variant) | Mitochondrial trifunctional protein deficiency 2 | |
| | | Deletion (inframe_deletion) | Mitochondrial trifunctional protein deficiency 2 | |
| | | Single nucleotide variant (intron variant +1 more) | Mitochondrial trifunctional protein deficiency 2 | |
| | | Single nucleotide variant (splice acceptor variant) | Mitochondrial trifunctional protein deficiency 2 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion | Mitochondrial trifunctional protein deficiency 2 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial trifunctional protein deficiency 2 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial trifunctional protein deficiency 2 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial trifunctional protein deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Mitochondrial trifunctional protein deficiency 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial trifunctional protein deficiency +1 more | |
| | | Single nucleotide variant (nonsense) | Mitochondrial trifunctional protein deficiency 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial trifunctional protein deficiency 2 +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Mitochondrial trifunctional protein deficiency 2 | |
| | | Deletion (frameshift variant) | Mitochondrial trifunctional protein deficiency 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial trifunctional protein deficiency +3 more | |
| | | Single nucleotide variant (intron variant) | Mitochondrial trifunctional protein deficiency +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Insertion (frameshift variant) | Mitochondrial trifunctional protein deficiency 2 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial trifunctional protein deficiency 2 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial trifunctional protein deficiency 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Mitochondrial trifunctional protein deficiency +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Mitochondrial trifunctional protein deficiency 2 | |