| | | Copy number loss | See cases | |
| | LOC123956257, LOC123956258 +2213 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | CUX1-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Global developmental delay with or without impaired intellectual development | |
| | | Single nucleotide variant (splice donor variant) | Global developmental delay with or without impaired intellectual development +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | CUX1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Global developmental delay with or without impaired intellectual development | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Inborn genetic diseases | |
| | CUX1, LOC126860126 (V103A +3 more) | Single nucleotide variant (missense variant +1 more) | Global developmental delay with or without impaired intellectual development | |
| | CUX1, LOC126860126 (D107H +3 more) | Single nucleotide variant (missense variant +1 more) | Global developmental delay with or without impaired intellectual development | |
| | CUX1, LOC126860126 (E115K +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC126860126, CUX1 (V106M +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | CUX1-related disorder | |
| | | Single nucleotide variant (missense variant) | Global developmental delay with or without impaired intellectual development | |
| | | Single nucleotide variant (missense variant) | CUX1-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | CUX1-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice donor variant) | Global developmental delay with or without impaired intellectual development | |
| | | Single nucleotide variant (missense variant) | Global developmental delay with or without impaired intellectual development | |
| | | Single nucleotide variant (nonsense) | Global developmental delay with or without impaired intellectual development | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Global developmental delay with or without impaired intellectual development +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Global developmental delay with or without impaired intellectual development +1 more | |
| | | Single nucleotide variant (intron variant) | Global developmental delay with or without impaired intellectual development +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Duane retraction syndrome | |
| | | Single nucleotide variant (missense variant) | CUX1-related disorder | |
| | | Single nucleotide variant (missense variant) | Global developmental delay with or without impaired intellectual development | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | CUX1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Global developmental delay with or without impaired intellectual development | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Global developmental delay with or without impaired intellectual development | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Global developmental delay with or without impaired intellectual development | |
| | | Deletion (frameshift variant) | Global developmental delay with or without impaired intellectual development | |
| | | Single nucleotide variant (intron variant) | CUX1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Global developmental delay with or without impaired intellectual development +1 more | |
| | | Single nucleotide variant (missense variant) | Global developmental delay with or without impaired intellectual development | |
| | | Single nucleotide variant (missense variant) | Global developmental delay with or without impaired intellectual development | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant +1 more) | Global developmental delay with or without impaired intellectual development | |
| | | Duplication (frameshift variant +1 more) | Global developmental delay with or without impaired intellectual development | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Global developmental delay with or without impaired intellectual development | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | CUX1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Inborn genetic diseases | |
| | | Deletion (frameshift variant +1 more) | Neurodevelopmental disorder +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Global developmental delay with or without impaired intellectual development | |
| | | Deletion (frameshift variant +1 more) | Global developmental delay with or without impaired intellectual development | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |