Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Abnormality of the mitochondrion | |
| | | Single nucleotide variant (missense variant) | Pyruvate dehydrogenase complex deficiency | |
| | | Single nucleotide variant (missense variant) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 +9 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene