Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Bethlem myopathy +2 more | |
| | | Deletion (splice acceptor variant) | Abnormality of the musculature | |
| | | Single nucleotide variant (missense variant +1 more) | Ullrich congenital muscular dystrophy 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Myosclerosis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Ullrich congenital muscular dystrophy 1A +11 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene