| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex I deficiency +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex 1 deficiency, nuclear type 21 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex 1 deficiency, nuclear type 21 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 21 | |
| | | Insertion (nonsense +1 more) | Mitochondrial complex 1 deficiency, nuclear type 21 | |
| | | Single nucleotide variant (splice donor variant) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant +2 more) | Mitochondrial complex I deficiency | |
| | | Complex | Parkinson disease, late-onset | |
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