Common congenital heart disease resulting from single gene defects
| Gene | Locus | Protein | Cardiac phenotype | OMIM | |
| Gene associated with transcription factors of cardiac development | GATA4 | 8p23.1 | GATA4 transcription factor | ASD, VSD, AVSD, PS, PAPVR and TOF. | 600 576 |
| GATA5 | 20q13.33 | GATA5 transcription factor | Congenital bicuspid aortic valve and VSD. | 617 912 | |
| GATA6 | 18q11.2 | GATA6 transcription factor | ASD, VSD, AVSD, OFT defects, PDA, PS and TOF. | 601 656 | |
| NKX2.5 | 5q35.1 | Homeobox containing transcription factor | ASD, VSD, TOF, HLHS, CoA, TGA, DORV, IAA and OFT defects. | 600 584 | |
| NKX2.6 | 8p21.2 | Homeobox containing transcription factor | PTA and conotruncal heart malformations. | 217 095 | |
| TBX1 | 22q11.2 | T-Box 1 transcription factor | TOF. | 602 054 | |
| TBX5 | 12q24.21 | T-Box 5 transcription factor | ASD, VSD and AVSD. | 601 620 | |
| TBX20 | 7p14.2 | T-Box 20 transcription factor | ASD, VSD and MS. | 611 363 | |
| TFAP2β | 6p12.3 | Transcription factor AP-2 beta | PDA. | 601 601 | |
| ZIC3 | Xq26.3 | Zinc finger transcription factor | ASD, VSD, HLHS, DORV, PS, TGA, TAPVR, dextrocardia, L-R axis defects and heterotaxy. | 300 265 | |
| Gene associated with signaling pathways of cardiac development | AXIN2 | 17q24.1 | Axin-related protein 2 | Congenital valve defect. | / |
| BRAF | 7q34 | Serine/threonine-protein kinase B-raf | ASD, and PAS. | 164 757 | |
| CBL | 11q23.3 | E3 ubiquitin-protein ligase CBL | AVSD, HCM and PS. | 613 563 | |
| DLL4 | 15q15.1 | Delta-like protein 4 | Left-sided obstructive lesions, septal and conotruncal defects and tricuspid atresia. | 616 589 | |
| FOXH1 | 8q24.3 | Forkhead box protein H1 | TOF and TGA. | / | |
| GALNT11 | 7q36.1 | Polypeptide N-acetylgalactosaminyltransferase 11 | Heterotaxy. | / | |
| GLI1 | 12q13.3 | Zinc finger protein GLI1 | Abnormity of atrioventricular separation and cardiac OFT. | 165 220 | |
| HHEX | 10q23.33 | Hematopoietically expressed homeobox | Ventricular aplasia, dense myocardial dysplasia and intracardiac membrane dysplasia. | / | |
| HRAS | 11p15.5 | GTPase HRas | PAS and tachycardia. | 190 020 | |
| JAG1 | 20p12.2 | Protein Jagged-1 | PAS and TOF. | 601 920 | |
| KRAS | 12p12.1 | GTPase KRas | ASD and PAS. | 190 070 | |
| MAML1 | 5q35.3 | Mastermind-like protein 1 | Aortic valve disease. | / | |
| MEK1 | 15q22.31 | Dual specificity mitogen-activated protein kinase kinase 1 | ASD and PAS. | 176 872 | |
| MEK2 | 19p13.3 | Dual specificity mitogen-activated protein kinase kinase 2 | ASD and PAS. | 601 263 | |
| NOTCH1 | 9q34.3 | Notch receptor 1 | Aortic valve disease. | 190 198 | |
| NOTCH2 | 1p12 | Notch receptor 2 | AS, TOF and PAS. | 610 205 | |
| NRAS | 1p13.2 | GTPase NRas | HCM and PS. | 164 790 | |
| PPP1CB | 2p23.2 | Serine/threonine-protein phosphatase PP1-beta catalytic subunit | ASD, VSD, HCM, PAS and TOF. | 617 506 | |
| PTPN11 | 12q24.13 | Protein tyrosine phosphatase non-receptor type 11 | ASD, VSD and PAS. | 176 876 | |
| RAF1 | 3p25.2 | RAF proto-oncogene serine/threonine-protein kinase | ASD and TOF. | 164 760 | |
| RIT1 | 1q22 | GTP-binding protein Rit1 | VSD, TOF and PAS. | 615 355 | |
| SHOC2 | 10q25.2 | Leucine-rich repeat protein SHOC-2 | ASD, VSD, HCM, PAS and TOF. | 607 721 | |
| SMAD6 | 15q22.31 | Mothers against decapentaplegic-related protein 6 | AV disease. | 602 931 | |
| SOS1 | 2p22.1 | Son of sevenless homolog 1 | ASD, VSD and TOF. | 182 530 | |
| SOS2 | 14q21.3 | Son of sevenless homolog 2 | ASD, VSD and TOF. | 616 559 | |
| TGF-β1 | 19q13.2 | Transforming growth factor beta-1 proprotein | CoA, HLHS, BAV and AS. | / | |
| Gene associated with structural proteins of cardiac development | ACTC | 15q14 | Alpha cardiac actin | ASD. | 102 540 |
| ELN | 7q11.23 | Elastin | AS, PAS, PS and SVAS. | 130 160 | |
| MYH6 | 14q11.2 | Alpha myosin heavy chain | AS, ASD, PFO, TA and TGA. | 160 710 | |
| MYH7 | 14q11.2 | Beta myosin heavy chain | ASD, NVM and Ebstein anomaly. | 160 760 | |
| MYH11 | 16p13.11 | Myosin heavy chain 11 | Aortic aneurysm and PDA. | 132 900 |
AS, aortic stenosis; ASD, atrial septal defect; AV, aortic valve; AVSD, atrioventricular septal defect; BAV, bicuspid aortic valve; CoA, coarctation of the aorta; DORV, double outlet right ventricle; HCM, hypertrophic cardiomyopathy; HLHS, hypoplastic left heart syndrome; IAA, interrupted aortic arch; L-R, Left-right; MS, mitral stenosis; NVM, non-compaction of ventricular myocardium; OFT, outflow tract; OMIM, online mendelian inheritance in man; PAPVR, partial anomalous pulmonary venous return; PAS, pulmonary artery stenosis; PDA, patent ductus arteriosus; PFO, patent foramen ovale; PS, pulmonary (valve) stenosis; PTA, persistent truncus arteriosus; SVAS, supravalvar aortic stenosis; TA, tricuspid atresia; TAPVR, total anomalous pulmonary venous return; TGA, transposition of the great arteries; TOF, tetralogy of Fallot; VSD, ventricular septal defect.