Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (intron variant) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 +5 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 16 (hepatic type) +4 more | |
Click to view in NCBI Gene