Links from MedGen
Items: 8
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Cardiomyopathy, mitochondrial | |
| | | Indel (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Indel (missense variant) | Cardiomyopathy, mitochondrial | |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy, mitochondrial +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Cardiomyopathy, mitochondrial | |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy, mitochondrial | |
| | | Deletion (frameshift variant) | Cardiomyopathy, mitochondrial | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
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