| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | KCNE1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Long QT syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Long QT syndrome +7 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital long QT syndrome +7 more | |
| | | Deletion (5 prime UTR variant) | not specified +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene