| | LOC130004500, LOC130004501 +821 more | Copy number gain | See cases | |
| | EDRF1-AS1, EDRF1-DT +1036 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC124416905, LOC124416906 +318 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126861107, LOC128598885 +802 more | Copy number gain | See cases | |
| | LOC130004727, LOC130004728 +2 more | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant | De Lange syndrome | |
| | | Single nucleotide variant | De Lange syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (5 prime UTR variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (5 prime UTR variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (5 prime UTR variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 3 | |
| | | Deletion (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Insertion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 3 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Deletion (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 3 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | SMC3-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | SMC3-related disorder | |
| | | Duplication (intron variant) | not specified +1 more | |
| | | Deletion (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Deletion (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | De Lange syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Duplication (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Deletion (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 3 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 3 | |