| | | Single nucleotide variant (missense variant) | Hernia, anterior diaphragmatic | |
| | | Single nucleotide variant (missense variant) | Hernia, anterior diaphragmatic | |
| | | Duplication (frameshift variant) | Heart, malformation of +2 more | |
| | | Single nucleotide variant (missense variant) | Heart, malformation of +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Heart, malformation of +2 more | |
| | | Single nucleotide variant (missense variant) | MYRF-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital diaphragmatic hernia +1 more | |
| | | Deletion (frameshift variant) | Atrial septal defect +1 more | |
| | | Deletion (frameshift variant) | Noonan syndrome 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Heart, malformation of +6 more | |
| | | Single nucleotide variant (missense variant) | Cardiac-urogenital syndrome | |
| | | Single nucleotide variant (missense variant) | Heart, malformation of +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | See cases +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Low-set ears +9 more | |
| | | | Congenital diaphragmatic hernia | |
| | | Deletion (nonsense) | Cornelia de Lange syndrome 1 +9 more | |
| | | Single nucleotide variant (missense variant) | Congenital diaphragmatic hernia | |
| | | Single nucleotide variant (missense variant) | Congenital diaphragmatic hernia | |
| | | Single nucleotide variant (missense variant) | Congenital diaphragmatic hernia | |
| | | Single nucleotide variant (missense variant) | Congenital diaphragmatic hernia | |
| | | Single nucleotide variant (missense variant) | FRAS1-related disorder | |
| | | Deletion (inframe_deletion) | Congenital diaphragmatic hernia | |
| | | Single nucleotide variant (missense variant) | FREM2-related disorder +4 more | |
| | | Translocation | Congenital diaphragmatic hernia | |
| | | Translocation | Muscular dystrophy +18 more | |
| | | Translocation | Clinodactyly +11 more | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Oculotrichoanal syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Insertion (frameshift variant) | Congenital diaphragmatic hernia | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +13 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Congenital diaphragmatic hernia +1 more | |
| | | Single nucleotide variant (nonsense) | Congenital diaphragmatic hernia +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | MET-related disorder +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome +3 more | |