| | | Microsatellite (3 prime UTR variant +2 more) | JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME | |
| | | Copy number gain | not specified | |
| | ARPC4, ARPC4-TTLL3 +40 more | Copy number loss | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | CRELD1-related condition | |
| | | Deletion (intron variant +2 more) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (intron variant) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (intron variant) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Atrioventricular septal defect, susceptibility to, 2 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Atrioventricular septal defect, susceptibility to, 2 | |
| | ARPC4, ARPC4-TTLL3 +23 more | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | CRELD1-related condition +1 more | |
| | | Single nucleotide variant (nonsense +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Ventricular septal defect 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Ventricular septal defect 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Deletion | Candidiasis, familial, 9 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (intron variant) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (intron variant) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (intron variant) | CRELD1-related condition +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | ARPC4, ARPC4-TTLL3 +20 more | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (intron variant) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (intron variant) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (intron variant) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (intron variant) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | CRELD1-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Copy number gain | not specified | |
| | ARPC4, ARPC4-TTLL3 +28 more | Copy number loss | not specified | |
| | FANCD2OS, THUMPD3 +148 more | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Deletion (frameshift variant +1 more) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect, susceptibility to, 2 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Duplication | Long QT syndrome | |
| | | Duplication | Candidiasis, familial, 9 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect, susceptibility to, 2 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect, susceptibility to, 2 | |
| | ARPC4, ARPC4-TTLL3 +38 more | Duplication | Atrioventricular septal defect, susceptibility to, 2 | |
| | ARPC4, ARPC4-TTLL3 +16 more | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Microsatellite (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect, susceptibility to, 2 +1 more | GConflicting classifications of pathogenicity |