| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephrotic syndrome, type 21 | |
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