| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (synonymous variant) | Catecholaminergic polymorphic ventricular tachycardia 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Insertion (frameshift variant) | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (missense variant) | DSG2-related condition +7 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene