| | LOC130005128, LOC130005129 +723 more | Copy number gain | See cases | |
| | LOC111718490, LOC112067719 +388 more | Copy number gain | See cases | |
| | LOC130005104, LOC130005105 +271 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | BGLT3, A-GAMMA3'E +328 more | Deletion | Thalassemia, gamma-delta-beta | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Deletion | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Short QT syndrome type 2 +5 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +4 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Short QT syndrome type 2 +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (5 prime UTR variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (5 prime UTR variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Long QT syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital long QT syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital long QT syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Long QT syndrome | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Long QT syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Long QT syndrome | |
| | | Single nucleotide variant (missense variant) | Jervell and Lange-Nielsen syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Long QT syndrome | |
| | | Single nucleotide variant (missense variant) | Familial atrial fibrillation +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Long QT syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Long QT syndrome | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome 1 +7 more | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome +1 more | |
| | | Deletion (frameshift variant +1 more) | Long QT syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (nonsense) | Long QT syndrome | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Long QT syndrome | |
| | | Single nucleotide variant (synonymous variant) | Congenital long QT syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (nonsense) | Long QT syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Long QT syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital long QT syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Long QT syndrome | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Long QT syndrome | |
| | | Duplication (frameshift variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Long QT syndrome | |
| | | Single nucleotide variant (synonymous variant) | Long QT syndrome | |
| | | Single nucleotide variant (synonymous variant) | Long QT syndrome | |
| | | Single nucleotide variant (nonsense) | Jervell and Lange-Nielsen syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Long QT syndrome | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Long QT syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Duplication (inframe_insertion +1 more) | Long QT syndrome | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Long QT syndrome | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Long QT syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Long QT syndrome | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome 1 +8 more | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome | |
| | | Single nucleotide variant (synonymous variant) | Long QT syndrome | |
| | | Single nucleotide variant (synonymous variant) | Long QT syndrome | |
| | | Duplication (frameshift variant) | Long QT syndrome 1 | |
| | | Microsatellite (inframe_indel +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Duplication (inframe_insertion) | KCNQ1-related disorder +5 more | GConflicting classifications of pathogenicity |