| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Congenital long QT syndrome +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene