| | ACTBL2, ADAMTS12 +1445 more | Copy number gain | See cases | |
| | ADAMTS12, ADAMTS16 +953 more | Copy number gain | See cases | |
| | ADAMTS12, ADAMTS16 +952 more | Copy number gain | See cases | |
| | AGXT2, LOC121725200 +385 more | Copy number gain | See cases | |
| | LOC126807363, LOC126807364 +518 more | Copy number gain | See cases | |
| | LOC126807367, LOC126807368 +254 more | Copy number gain | See cases | |
| | ANXA2R, ANXA2R-AS1 +245 more | Copy number gain | See cases | |
| | LOC114004393, LOC126807361 +13 more | Copy number gain | See cases | |
| | LOC129993810, LOC129993811 +3 more | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | Cornelia de Lange syndrome 1 | GPathogenic/Likely pathogenic |
| | | Indel (5 prime UTR variant) | Neurodevelopmental abnormality | |
| | | Deletion (5 prime UTR variant) | De Lange syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Cornelia de Lange syndrome 1 | |
| | | Duplication (5 prime UTR variant) | De Lange syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Cornelia de Lange syndrome 1 | |
| | | Deletion (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Cornelia de Lange syndrome 1 | |
| | | Deletion (5 prime UTR variant) | Cornelia de Lange syndrome 1 | |
| | | Indel (5 prime UTR variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Cornelia de Lange syndrome 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Cornelia de Lange syndrome 1 | |
| | | Duplication (5 prime UTR variant) | De Lange syndrome | |
| | | Deletion | Cornelia de Lange syndrome 1 | |
| | | Deletion (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 1 | |
| | CPLANE1, CPLANE1-AS1 +9 more | Copy number gain | See cases | |
| | CPLANE1, CPLANE1-AS1 +19 more | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 1 | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Duplication (frameshift variant) | Cornelia de Lange syndrome 1 | |
| | | Deletion (frameshift variant) | Cornelia de Lange syndrome 1 | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Deletion (splice donor variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (splice donor variant) | Cornelia de Lange syndrome 1 | |
| | | Deletion (intron variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 1 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (nonsense) | NIPBL-related disorder | |
| | | Deletion (frameshift variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Cornelia de Lange syndrome 1 | |
| | | Deletion (frameshift variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Deletion (frameshift variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Cornelia de Lange syndrome 1 | |
| | | Deletion (frameshift variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Deletion (inframe_deletion) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 1 | |
| | | Duplication (frameshift variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 1 | |
| | | Insertion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |