Links from MedGen
Items: 12
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Combined oxidative phosphorylation deficiency 40 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation deficiency 40 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation deficiency 40 | |
| | LOC129996910, QRSL1
+1 more (L6F) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Deletion (intron variant) | Combined oxidative phosphorylation deficiency 40 | |
| | | Single nucleotide variant (synonymous variant) | Combined oxidative phosphorylation deficiency 40 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation deficiency 40 | |
| | | Indel (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy, mitochondrial +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Cardiomyopathy, mitochondrial | |
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