| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome +3 more | |
| | | Deletion (frameshift variant) | Rienhoff syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Developmental disorder +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Arrhythmogenic right ventricular dysplasia 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Arrhythmogenic right ventricular dysplasia 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | Rienhoff syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Rienhoff syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Arrhythmogenic right ventricular dysplasia 1 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Arrhythmogenic right ventricular dysplasia 1 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Rienhoff syndrome +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +2 more | |
| | | Microsatellite (5 prime UTR variant) | Rienhoff syndrome +2 more | |
| | | Deletion (5 prime UTR variant) | Rienhoff syndrome +2 more | |
| | | Duplication (5 prime UTR variant) | Rienhoff syndrome +2 more | |