| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant +1 more) | Progressive familial heart block type IB | |
| | | Single nucleotide variant (nonsense) | Progressive familial heart block type IB | |
Click to view in NCBI Gene