| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication (frameshift variant) | Seizures, benign familial neonatal, 1 | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome 1 +5 more | GConflicting classifications of pathogenicity |
| | | Indel (missense variant) | Long QT syndrome 5 +3 more | |
Click to view in NCBI Gene