| | LOC130066574, LOC130066575 +1159 more | Copy number gain | See cases | |
| | LOC130066796, LOC130066797 +1160 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066513, LOC130066514 +1160 more | Copy number gain | See cases | |
| | LOC126653326, LOC126653327 +1160 more | Copy number gain | See cases | |
| | LOC130066833, LOC130066834 +1160 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066700, LOC130066701 +1159 more | Copy number gain | See cases | |
| | LOC130066665, LOC130066666 +1160 more | Copy number gain | See cases | |
| | ADAMTS1, ADAMTS5 +643 more | Copy number loss | See cases | |
| | LOC126653316, LOC126653317 +1160 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066758, LOC130066759 +1159 more | Copy number gain | See cases | |
| | LOC130066436, LOC130066437 +1159 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | KRTAP13-3, KRTAP13-4 +1157 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066541, LOC130066542 +1159 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066593, LOC130066594 +1155 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066830, LOC130066831 +1155 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129391220, LOC129391221 +1156 more | Copy number loss | See cases | |
| | ATP5PO, C21orf62 +107 more | Deletion | ZTTK syndrome | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial atrial fibrillation +4 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Congenital long QT syndrome +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Atrial fibrillation, familial, 4 +3 more | |
| | | 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 (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Long QT syndrome 6 +1 more | |
| | | Single nucleotide variant (missense variant) | Atrial fibrillation, familial, 4 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (nonsense) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Long QT syndrome 6 | |
| | KCNE2, LOC105372791 (T10M) | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Long QT syndrome 6 +2 more | |
| | KCNE2, LOC105372791 (L11V) | Single nucleotide variant (missense variant) | Long QT syndrome 6 | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | LOC105372791, KCNE2 (V14I) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | LOC105372791, KCNE2 (V14D) | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Long QT syndrome 6 | |
| | KCNE2, LOC105372791 (R16*) | Single nucleotide variant (nonsense) | Long QT syndrome 6 +2 more | |
| | KCNE2, LOC105372791 (R16Q) | Single nucleotide variant (missense variant) | not provided | |
| | KCNE2, LOC105372791 (I20N) | Single nucleotide variant (missense variant) | Congenital long QT syndrome | |
| | | Single nucleotide variant (synonymous variant) | Long QT syndrome 6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | KCNE2, LOC105372791 (M23L) | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | KCNE2, LOC105372791 (R27S) | Single nucleotide variant (missense variant) | Long QT syndrome 6 +1 more | |
| | KCNE2, LOC105372791 (R27C) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | KCNE2, LOC105372791 (R27H) | Single nucleotide variant (missense variant) | Atrial fibrillation, familial, 4 +2 more | GConflicting classifications of pathogenicity |
| | KCNE2, LOC105372791 (N29I) | Single nucleotide variant (missense variant) | Long QT syndrome 6 | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | KCNE2, LOC105372791 (T30I) | Single nucleotide variant (missense variant) | Long QT syndrome 6 | |
| | KCNE2, LOC105372791 (E33K) | Single nucleotide variant (missense variant) | not provided | |
| | KCNE2, LOC105372791 (A39G) | Single nucleotide variant (missense variant) | Long QT syndrome 6 | |
| | KCNE2, LOC105372791 (K40T) | Single nucleotide variant (missense variant) | Long QT syndrome 6 | |
| | KCNE2, LOC105372791 (V41A) | Single nucleotide variant (missense variant) | Long QT syndrome 6 +1 more | |
| | KCNE2, LOC105372791 (Y47C) | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Long QT syndrome 6 | |
| | KCNE2, LOC105372791 (Y48fs) | Deletion (frameshift variant) | not provided | |
| | KCNE2, LOC105372791 (V49fs) | Duplication (frameshift variant) | Long QT syndrome 6 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Long QT syndrome 6 +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (inframe_insertion) | Long QT syndrome 6 | |
| | KCNE2, LOC105372791 (M54V) | Single nucleotide variant (missense variant) | Long QT syndrome 6 | |
| | KCNE2, LOC105372791 (M54T) | Single nucleotide variant (missense variant) | KCNE2-Related Disorders +3 more | GConflicting classifications of pathogenicity; risk factor |
| | KCNE2, LOC105372791 (M56V) | Single nucleotide variant (missense variant) | not provided | |
| | KCNE2, LOC105372791 (I57T) | Single nucleotide variant (missense variant) | KCNE2-related condition +5 more | GConflicting classifications of pathogenicity |
| | KCNE2, LOC105372791 (I57M) | Single nucleotide variant (missense variant) | Long QT syndrome 6 | |
| | KCNE2, LOC105372791 (M59I) | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | KCNE2, LOC105372791 (F60I) | Single nucleotide variant (missense variant) | Long QT syndrome 6 +1 more | |
| | KCNE2, LOC105372791 (F60L) | Single nucleotide variant (missense variant) | Long QT syndrome 3/6, digenic | |
| | KCNE2, LOC105372791 (S61P) | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Long QT syndrome 6 +1 more | |
| | KCNE2, LOC105372791 (I64V) | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | LOC105372791, KCNE2 (V65L) | Single nucleotide variant (missense variant) | Long QT syndrome 6 +1 more | |
| | KCNE2, LOC105372791 (V65M) | Single nucleotide variant (missense variant) | Long QT syndrome 6 | |
| | | Single nucleotide variant (synonymous variant) | Long QT syndrome 6 +1 more | |
| | KCNE2, LOC105372791 (A66V) | Single nucleotide variant (missense variant) | not provided +1 more | |