| | LOC126862722, LOC126862723 +1646 more | Copy number gain | See cases | |
| | LINC00683, LINC00907 +1643 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC01478, LINC01538 +1643 more | Copy number gain | See cases | |
| | LOC130062393, LOC130062394 +1643 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062575, LOC130062576 +1643 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062208, LOC130062209 +322 more | Copy number gain | See cases | |
| | LOC130062243, LOC130062244 +111 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062446, LOC130062447 +1266 more | Copy number gain | See cases | |
| | | Single nucleotide variant | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | GATA6-related disorder | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (nonsense) | Tetralogy of Fallot | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (synonymous variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | GATA6-related disorder +4 more | |
| | | Single nucleotide variant (synonymous variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (synonymous variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Indel (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | GATA6-related disorder | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (synonymous variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (synonymous variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (inframe_deletion) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Duplication (inframe_insertion) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (synonymous variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (nonsense) | Atrioventricular septal defect 5 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (synonymous variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Indel (frameshift variant) | Developmental disorder | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Monogenic diabetes +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (synonymous variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (synonymous variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations +4 more | |
| | | Single nucleotide variant (missense variant) | GATA6-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 5 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Atrioventricular septal defect 5 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Atrioventricular septal defect 5 +1 more | |
| | | Deletion (frameshift variant) | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | |
| | | Single nucleotide variant (missense variant) | Tetralogy of Fallot +5 more | |
| | | Single nucleotide variant (synonymous variant) | Atrioventricular septal defect 5 | |