Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Duchenne muscular dystrophy | |
| | | Deletion (frameshift variant +1 more) | Intermediate muscular dystrophy | |
Click to view in NCBI Gene