Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Cardiac arrhythmia +1 more | |
| | | Single nucleotide variant (missense variant) | Torsades de pointes | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene