| | LOC124629404, LOC124629407 +4840 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Deletion (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Deletion (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Indel (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (synonymous variant) | Aortic valve disease 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Deletion (frameshift variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (synonymous variant) | Holt-Oram syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 2 +1 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (nonsense) | Aortic valve disease 2 | |
| | | Single nucleotide variant (synonymous variant) | Aortic valve disease 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (nonsense) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 2 +1 more | GConflicting classifications of pathogenicity |