Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome 19 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Mitochondrial DNA depletion syndrome 19 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Mitochondrial complex I deficiency | |
| | | Single nucleotide variant (nonsense) | Mitochondrial complex I deficiency +1 more | |
Click to view in NCBI Gene