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