Links from MedGen
Items: 13
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Single nucleotide variant (nonsense) | Mitochondrial complex 1 deficiency, nuclear type 3 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 3 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Mitochondrial complex 1 deficiency, nuclear type 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 3 | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | Leigh syndrome | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 3 | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +2 more | GPathogenic/Likely pathogenic |
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