| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (frameshift variant) | Cardiovascular phenotype +8 more | |
| | | Single nucleotide variant (missense variant) | Cardiac arrhythmia +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiac arrhythmia +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Long QT syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Long QT syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +23 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Conduction disorder of the heart +8 more | |
Click to view in NCBI Gene