Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 +11 more | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder +10 more | |
| | | Deletion (3 prime UTR variant +1 more) | Inborn genetic diseases +13 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene