| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 14 | |
| | | Microsatellite (frameshift variant) | Mitochondrial complex 1 deficiency, nuclear type 14 | |
| | | Single nucleotide variant (missense variant +2 more) | Mitochondrial complex 1 deficiency, nuclear type 14 | |
| | | Single nucleotide variant (intron variant) | Mitochondrial complex 1 deficiency, nuclear type 14 | |
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