Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | Mitochondrial disease | |
| | | Deletion (frameshift variant) | Leigh syndrome | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation deficiency 59 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Mitochondrial disease | |
Click to view in NCBI Gene