Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense) | Coarctation of aorta +12 more | |
| | | Single nucleotide variant (missense variant) | Coarctation of aorta +12 more | |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia of anesthesia | |
Click to view in NCBI Gene