| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability Cabezas type | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Pettigrew syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | X-linked intellectual disability Cabezas type | |
| | | Deletion (nonsense) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability Cabezas type | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (intron variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (intron variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability Cabezas type | |
| | | Deletion (frameshift variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (synonymous variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (synonymous variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (missense variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (missense variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (synonymous variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | X-linked intellectual disability Cabezas type | |
| | | 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) | Inborn genetic diseases +3 more | |
| | | Duplication (nonsense) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability Cabezas type | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (intron variant) | X-linked intellectual disability Cabezas type | |
| | | 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) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (synonymous variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (synonymous variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (intron variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (missense variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (synonymous variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Duplication (frameshift variant) | not provided | |
| | | Indel (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (intron variant) | X-linked intellectual disability Cabezas type | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (intron variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (intron variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (intron variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (intron variant) | X-linked intellectual disability Cabezas type | |
| | | Deletion (splice donor variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice donor variant) | CUL4B-related X-linked intellectual disability | |
| | | Single nucleotide variant (splice donor variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (synonymous variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CUL4B-related disorder | |