| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | TBX5-related disorder | |
| | | Duplication (frameshift variant) | TBX5-related disorder | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication | Aortic valve disease 2 | |
| | | Duplication | Aortic valve disease 2 +1 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (missense variant) | TBX5-related disorder | |
| | | Single nucleotide variant | TBX5-related disorder | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (intron variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (synonymous variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (intron variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 2 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (intron variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (intron variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (synonymous variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (intron variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (nonsense) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 2 | |
| | | Deletion (inframe_deletion) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 2 | |
| | | Deletion (splice acceptor variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (synonymous variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 2 | |
| | | Duplication (frameshift variant +1 more) | Aortic valve disease 2 | |
| | | Deletion (frameshift variant +1 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (intron variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 2 | |
| | | Deletion (frameshift variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 2 | |
| | | Deletion (frameshift variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 2 | |
| | | Duplication (frameshift variant) | Aortic valve disease 2 | |
| | | Single nucleotide variant (synonymous variant) | Aortic valve disease 2 | |
| | | Deletion (frameshift variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (intron variant) | Aortic valve disease 2 +1 more | |
| | | Single nucleotide variant (missense variant) | TBX5-related disorder | |
| | | Single nucleotide variant (splice acceptor variant) | TBX5-related disorder | |
| | | Single nucleotide variant (missense variant) | TBX5-related disorder | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (missense variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (missense variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (intron variant) | Holt-Oram syndrome | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Holt-Oram syndrome | |