| | | Deletion (5 prime UTR variant) | De Lange syndrome | |
| | | Duplication (5 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (5 prime UTR variant) | De Lange syndrome | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | De Lange syndrome | |
| | | Duplication (3 prime UTR variant) | not specified +1 more | |
| | | Deletion (3 prime UTR variant) | De Lange syndrome | |
| | | Deletion (3 prime UTR variant) | De Lange syndrome +1 more | |
| | | Deletion (3 prime UTR variant) | De Lange syndrome | |
| | | Deletion (3 prime UTR variant) | De Lange syndrome | |
| | | Deletion (nonsense) | De Lange syndrome | |
| | | Single nucleotide variant | De Lange syndrome | |
| | | Single nucleotide variant | De Lange syndrome | |
| | | Duplication (intron variant) | not specified +4 more | |
| | | Duplication (intron variant) | not specified +3 more | |
| | | Insertion (intron variant) | Cornelia de Lange syndrome 3 +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (intron variant) | De Lange syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | De Lange syndrome +1 more | |
| | | Deletion (3 prime UTR variant) | De Lange syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | De Lange syndrome | |
| | | Deletion (3 prime UTR variant) | De Lange syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | De Lange syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | De Lange syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | De Lange syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | De Lange syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | De Lange syndrome | |
| | | Microsatellite (3 prime UTR variant) | De Lange syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | De Lange syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | De Lange syndrome +4 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +4 more | |