| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Long QT syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Long QT syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Distal myopathy, Tateyama type +6 more | |
| | | Single nucleotide variant (missense variant) | not specified +8 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene