Links from MedGen
Items: 7
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Multiple mitochondrial dysfunctions syndrome 7 | |
| | | Duplication (splice acceptor variant +1 more) | Multiple mitochondrial dysfunctions syndrome 7 | |
| | | Deletion | Multiple mitochondrial dysfunctions syndrome 7 | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple mitochondrial dysfunctions syndrome 7 | |
| | | Insertion (splice acceptor variant) | Multiple mitochondrial dysfunctions syndrome 7 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene