| | | Single nucleotide variant (missense variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (splice acceptor variant) | Syndromic X-linked intellectual disability Najm type +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Deletion | Syndromic X-linked intellectual disability Najm type | |
| | | Deletion (frameshift variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Indel (missense variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (nonsense) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (nonsense) | Syndromic X-linked intellectual disability Najm type | |
| | | Deletion (frameshift variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (intron variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Copy number loss | Syndromic X-linked intellectual disability Najm type +1 more | |
| | | Copy number loss | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (missense variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Deletion (frameshift variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Microsatellite (splice donor variant) | Syndromic X-linked intellectual disability Najm type | |
| | CASK, CASK-AS1 (T864fs +4 more) | Microsatellite (frameshift variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (splice acceptor variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (nonsense) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (missense variant) | Syndromic X-linked intellectual disability Najm type +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Deletion (frameshift variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (missense variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (nonsense) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (nonsense) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, CASK-related, X-linked +4 more | |
| | | Single nucleotide variant (splice donor variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (intron variant) | Developmental disorder +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (intron variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (splice donor variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (missense variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (missense variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (missense variant) | Syndromic X-linked intellectual disability Najm type | |
| | CASK-AS1, CASK (E841fs +3 more) | Deletion (frameshift variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Deletion (frameshift variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Deletion (splice donor variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, CASK-related, X-linked +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (nonsense) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (missense variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Deletion (frameshift variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (missense variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Deletion (frameshift variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (missense variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Duplication (frameshift variant) | FG syndrome 4 +1 more | |
| | | Single nucleotide variant (nonsense) | Syndromic X-linked intellectual disability Najm type | |
| | | Duplication (frameshift variant) | Syndromic X-linked intellectual disability Najm type +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Syndromic X-linked intellectual disability Najm type +1 more | |
| | | Single nucleotide variant (missense variant) | Syndromic X-linked intellectual disability Najm type +1 more | |
| | | Deletion (frameshift variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (missense variant) | Syndromic X-linked intellectual disability Najm type +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (splice donor variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (nonsense) | Syndromic X-linked intellectual disability Najm type +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (intron variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (nonsense) | not provided +4 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Deletion (frameshift variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (splice donor variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (missense variant) | Syndromic X-linked intellectual disability Najm type +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (nonsense) | Syndromic X-linked intellectual disability Najm type +2 more | GPathogenic/Likely pathogenic |
| | | Deletion | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (missense variant) | Smith-Magenis Syndrome-like +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Microsatellite (frameshift variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (nonsense) | Syndromic X-linked intellectual disability Najm type | |
| | | Deletion (frameshift variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (nonsense) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (nonsense) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (missense variant) | Syndromic X-linked intellectual disability Najm type | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (nonsense) | Syndromic X-linked intellectual disability Najm type | |
| | | Deletion (frameshift variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (nonsense) | Syndromic X-linked intellectual disability Najm type | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Deletion (frameshift variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (synonymous variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (nonsense) | Syndromic X-linked intellectual disability Najm type | |
| | CASK, LOC130068172 +1 more | Deletion | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Syndromic X-linked intellectual disability Najm type +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | FG syndrome 4 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Syndromic X-linked intellectual disability Najm type | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |