| | | Copy number gain | See cases | |
| | LOC126861081, LOC126861082 +1036 more | Copy number gain | See cases | |
| | ABLIM1, ABRAXAS2 +1097 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130004776, LOC130004777 +308 more | Copy number loss | See cases | |
| | LOC130004745, LOC130004746 +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) | Inborn genetic diseases +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 condition +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) | Inborn genetic diseases +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 condition | |
| | | 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) | Inborn genetic diseases +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 | |