| | | Copy number gain | See cases | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | Andersen Tawil syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | Short QT syndrome type 3 +3 more | GConflicting classifications of pathogenicity |
| | | Insertion (5 prime UTR variant) | not provided +3 more | |
| | | Insertion (5 prime UTR variant) | not provided +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +4 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +4 more | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | Andersen Tawil syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Andersen Tawil syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Short QT syndrome type 3 +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Andersen Tawil syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Andersen Tawil syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Short QT syndrome type 3 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +4 more | |
| | | Single nucleotide variant (missense variant) | Andersen Tawil syndrome +3 more | |
| | | Duplication (inframe_insertion) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Andersen Tawil syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Andersen Tawil syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Andersen Tawil syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 more | |
| | | Single nucleotide variant (missense variant) | Andersen Tawil syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +6 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Andersen Tawil syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Atrial fibrillation, familial, 9 +3 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Andersen Tawil syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Andersen Tawil syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Short QT syndrome type 3 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Short QT syndrome type 3 +1 more | |