| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication (frameshift variant) | Long QT syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | KCNQ1-Related Disorders +23 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene