| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Long QT syndrome 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Long QT syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome +7 more | |
Click to view in NCBI Gene