Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Single nucleotide variant (missense variant) | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A +3 more | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial complex V (ATP synthase) deficiency nuclear type 4B +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A | |
Click to view in NCBI Gene