| | | Duplication (frameshift variant +1 more) | Combined oxidative phosphorylation deficiency 39 | |
| | | Single nucleotide variant (splice donor variant) | Combined oxidative phosphorylation deficiency 39 | |
| | | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency 39 | |
| | | Single nucleotide variant (nonsense +1 more) | Combined oxidative phosphorylation deficiency 39 | |
| | | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency 39 | |
| | | Single nucleotide variant (missense variant +2 more) | Combined oxidative phosphorylation deficiency 39 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation deficiency 39 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency 39 | |
| | | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency 39 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency 39 +1 more | |
| | | Deletion (frameshift variant +1 more) | Combined oxidative phosphorylation deficiency 39 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Combined oxidative phosphorylation deficiency 39 | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation deficiency 39 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |