| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000015, LOC130000016 +3658 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999850, LOC129999851 +1038 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860290, LOC126860291 +687 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110121192, LOC110121196 +3656 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999981, LOC129999982 +996 more | Copy number gain | See cases | |
| | LOC130000067, LOC130000068 +3656 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Neurodevelopmental disorder | |
| | | Copy number loss | See cases | |
| | LOC126860289, LOC126860290 +773 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999803, LOC129999804 +1018 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126860304, LOC128462397 +255 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999842, LOC129999843 +232 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129999830, LOC129999831 +199 more | Copy number gain | See cases | |
| | LINC03022, LOC101929128 +205 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC113788246, LOC113788294 +195 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129999843, LOC129999844 +189 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC124049163, LOC124049164 +188 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC105379224, LOC105379230 +160 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | GATA4, LOC110120689 +6 more | Deletion | Atrioventricular septal defect 4 | |
| | LOC129999901, SNORA99 +6 more | Duplication | Atrioventricular septal defect 4 | |
| | | Single nucleotide variant (intron variant) | Atrioventricular septal defect 4 | |
| | | Single nucleotide variant (intron variant) | Atrioventricular septal defect 4 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | GATA4-related condition | |
| | | Single nucleotide variant (intron variant) | GATA4-related condition | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | GATA4-related condition | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Atrioventricular septal defect 4 | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Deletion (intron variant +2 more) | Atrioventricular septal defect 4 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Atrioventricular septal defect 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Atrioventricular septal defect 4 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital heart disease | |
| | | Single nucleotide variant (synonymous variant +1 more) | Atrioventricular septal defect 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Atrioventricular septal defect 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Tetralogy of Fallot | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital heart disease | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect 4 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect 4 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Atrioventricular septal defect 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +2 more | |
| | | Deletion (inframe_deletion +1 more) | Atrioventricular septal defect 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect 4 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (nonsense +1 more) | Atrioventricular septal defect 4 | |
| | | Single nucleotide variant (nonsense +1 more) | Atrioventricular septal defect 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Atrioventricular septal defect 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect 4 | |