| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (synonymous variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (synonymous variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (synonymous variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (synonymous variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (synonymous variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (synonymous variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Deletion (frameshift variant) | Conotruncal heart malformations | |
| | | Deletion (3 prime UTR variant +1 more) | Conotruncal heart malformations | |
| | | Indel (frameshift variant +1 more) | Conotruncal heart malformations +3 more | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations +4 more | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (nonsense) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Deletion (frameshift variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (synonymous variant) | Conotruncal heart malformations | |
| | | Insertion (frameshift variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (synonymous variant) | Atrioventricular septal defect 5 +4 more | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +6 more | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Atrial septal defect 7 +5 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +7 more | |
| | | Single nucleotide variant (intron variant) | DiGeorge syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Duplication | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations +3 more | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Atrial septal defect 7 +5 more | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations +1 more | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Tetralogy of Fallot +5 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypothyroidism, congenital, nongoitrous, 5 +6 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | Cerebral palsy +1 more | GLikely pathogenic; risk factor |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | DiGeorge syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (synonymous variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (synonymous variant) | Conotruncal heart malformations | |
| | | Microsatellite (3 prime UTR variant +1 more) | Atrial septal defect 7 +5 more | |
| | | Microsatellite (inframe_deletion +1 more) | DiGeorge syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +6 more | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Atrial septal defect 7 +6 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Atrial septal defect 7 +5 more | |
| | | Single nucleotide variant (missense variant) | Ventricular septal defect 3 +7 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Atrial septal defect 7 +5 more | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (synonymous variant) | Atrioventricular septal defect 5 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Velocardiofacial syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Atrial septal defect 7 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | DiGeorge syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Ventricular septal defect 3 +6 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Ventricular septal defect 3 +6 more | |
| | | Insertion (inframe_insertion +1 more) | Conotruncal heart malformations +3 more | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Cardiovascular phenotype +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Conotruncal heart malformations +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (synonymous variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (synonymous variant) | Atrioventricular septal defect 5 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Cardiovascular phenotype +7 more | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Deletion (inframe_deletion) | TBX1-related condition +5 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Cardiovascular phenotype +7 more | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 +4 more | |