| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129936144, LOC129936145 +271 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129936120, LOC129936121 +184 more | Copy number loss | See cases | |
| | LOC100130207, LOC101927394 +181 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC112935932, LOC112935963 +331 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129936094, LOC129936095 +647 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129936377, LOC129936378 +1111 more | Copy number gain | See cases | |
| | LOC110120630, LOC111429626 +608 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ARPC4, ARPC4-TTLL3 +307 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129929025, LOC129929026 +190 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ARPC4, ARPC4-TTLL3 +146 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Limb-Girdle Muscular Dystrophy, Dominant +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | Limb-Girdle Muscular Dystrophy, Dominant +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Deletion | Long QT syndrome | |
| | | Duplication | Long QT syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome | |
| | | Deletion (frameshift variant) | CAV3-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Long QT syndrome | |
| | | Deletion (frameshift variant) | Elevated circulating creatine kinase concentration +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome 9 | |
| | | Single nucleotide variant (synonymous variant) | Long QT syndrome | |
| | | Single nucleotide variant (synonymous variant) | Limb-Girdle Muscular Dystrophy, Dominant +8 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Long QT syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy 1 +5 more | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome | |
| | | Single nucleotide variant (missense variant) | CAV3-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Long QT syndrome 9 | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome | |
| | | Single nucleotide variant (nonsense) | Cardiovascular phenotype +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Long QT syndrome | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Hypertrophic cardiomyopathy 1 +6 more | |
| | | Single nucleotide variant (synonymous variant) | Long QT syndrome | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (nonsense) | Long QT syndrome | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome | |
| | | Single nucleotide variant (missense variant) | CAV3-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Distal myopathy, Tateyama type +6 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Rippling muscle disease 2 | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome | |