Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (intron variant) | Myopathy, congenital proximal, with minicore lesions | |
| | | Duplication (intron variant) | Myopathy, congenital proximal, with minicore lesions | |
| | | Deletion (intron variant) | Multiminicore myopathy | |
| | | Single nucleotide variant (intron variant) | Myopathy, congenital, with respiratory insufficiency and bone fractures +2 more | |
Click to view in NCBI Gene