| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 42 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 42 +2 more | |
| | | Microsatellite (frameshift variant +1 more) | Intellectual disability, autosomal dominant 42 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 42 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 42 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Intellectual disability, autosomal dominant 42 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 42 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Intellectual disability, autosomal dominant 42 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Intellectual disability, autosomal dominant 42 | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal dominant 42 | |
| | | Single nucleotide variant (3 prime UTR variant) | Intellectual disability, autosomal dominant 42 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 42 | |
| | | Single nucleotide variant (synonymous variant) | Acute lymphoid leukemia +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 42 | |
| | | Single nucleotide variant (splice acceptor variant) | Intellectual disability, autosomal dominant 42 | |
| | | Deletion (frameshift variant) | Intellectual disability, autosomal dominant 42 | |
| | | Deletion (5 prime UTR variant +1 more) | Intellectual disability, autosomal dominant 42 | |
| | | Single nucleotide variant (splice acceptor variant) | Intellectual disability, autosomal dominant 42 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 42 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 42 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 42 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal dominant 42 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 42 +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 42 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Intellectual disability, autosomal dominant 42 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Intellectual disability, autosomal dominant 42 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Intellectual disability, autosomal dominant 42 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Intellectual disability, autosomal dominant 42 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 42 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 42 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 42 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 42 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 42 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hypotonia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Intellectual disability, autosomal dominant 42 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Intellectual disability, autosomal dominant 42 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Neurodevelopmental disorder +7 more | GPathogenic/Likely pathogenic |