| | | Duplication | Danon disease | |
| | MIR1468, MIR1587 +2598 more | Copy number gain | Klinefelter syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | CUL4B, LOC113845788 (N58K +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CUL4B, LOC113845788 (S34T +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (synonymous variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CUL4B-related disorder | |
| | | Duplication (nonsense) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CUL4B, LOC113845788 (P72L +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | not provided | |
| | CUL4B, LOC113845788 (K172fs +2 more) | Deletion (frameshift variant) | X-linked intellectual disability Cabezas type | |
| | | 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 (synonymous variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (synonymous variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (synonymous variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (synonymous variant) | X-linked intellectual disability Cabezas type +1 more | |
| | CUL4B, LOC113845788 (S180del +2 more) | Microsatellite (inframe_deletion) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability Cabezas type | |
| | | 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) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (intron variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (synonymous variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (intron variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (synonymous variant) | X-linked intellectual disability Cabezas type | |
| | CUL4B, LOC113845788 (D92N +2 more) | Single nucleotide variant (missense variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (intron variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (synonymous variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (synonymous variant) | X-linked intellectual disability Cabezas type | |
| | CUL4B, LOC113845788 (F108L +2 more) | Single nucleotide variant (missense variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (intron variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (synonymous variant) | X-linked intellectual disability Cabezas type | |
| | CUL4B, LOC113845788 (S166P +2 more) | Single nucleotide variant (missense variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability Cabezas type | |
| | CUL4B, LOC113845788 (E119* +2 more) | Single nucleotide variant (nonsense) | X-linked intellectual disability Cabezas type | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | X-linked intellectual disability Cabezas type | |
| | | Indel (intron variant) | not provided | |
| | CUL4B, LOC113845788 (D105V +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability Cabezas type | |
| | CUL4B, LOC113845788 (S66Y +2 more) | Single nucleotide variant (missense variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (missense variant) | CUL4B-related disorder | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | CUL4B, LOC113845788 (T61fs +2 more) | Deletion (frameshift variant) | X-linked intellectual disability Cabezas type | |
| | CUL4B, LOC113845788 (S98R +2 more) | Single nucleotide variant (missense variant) | X-linked intellectual disability Cabezas type | |
| | CUL4B, LOC113845788 (A114G +2 more) | Single nucleotide variant (missense variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | CUL4B, LOC113845788 (K37N +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | Klinefelter syndrome | |
| | | Deletion (nonsense) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | X-linked intellectual disability Cabezas type | |
| | CUL4B, LOC113845788 (T130N +2 more) | Single nucleotide variant (missense 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 | |
| | | Single nucleotide variant (intron variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (intron variant) | X-linked intellectual disability Cabezas type +1 more | GConflicting classifications of pathogenicity |
| | | Duplication | Syndromic X-linked intellectual disability 14 | |
| | | Duplication | not provided | |
| | | Deletion | X-linked intellectual disability Cabezas type +1 more | |
| | | Single nucleotide variant (synonymous variant) | X-linked intellectual disability Cabezas type | |
| | CUL4B, LOC113845788 (A34D +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | CUL4B-related disorder +1 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 (missense variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (synonymous variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (intron variant) | X-linked intellectual disability Cabezas type | |
| | | Single nucleotide variant (synonymous variant) | X-linked intellectual disability Cabezas type | |