| | ACTBL2, ADAMTS12 +1445 more | Copy number gain | See cases | |
| | LOC126807363, LOC126807364 +518 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LINC02219, LINC02229 +265 more | Copy number loss | Intellectual disability | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cockayne syndrome type 1 | |
| | | Duplication (3 prime UTR variant) | Cockayne syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Cockayne syndrome type 1 | |
| | | Deletion (frameshift variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Microsatellite (inframe_deletion) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (frameshift variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | 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) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | UV-sensitive syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Cockayne syndrome type 1 +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (intron variant) | not provided | |
| | | 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) | not provided | |
| | | 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) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |