Links from MedGen
Items: 12
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Mitochondrial complex 1 deficiency, nuclear type 11 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Mitochondrial complex 1 deficiency, nuclear type 11 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex 1 deficiency, nuclear type 11 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex 1 deficiency, nuclear type 11 +3 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex 1 deficiency, nuclear type 11 | |
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