| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion | Intellectual disability, autosomal dominant 39 | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 39 | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, autosomal dominant 39 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 39 | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, autosomal dominant 39 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 39 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 39 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 39 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 39 | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, autosomal dominant 39 | |
| | | Single nucleotide variant (missense variant) | Autism spectrum disorder | |
| | | Single nucleotide variant (missense variant) | Autism spectrum disorder | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, autosomal dominant 39 | |
| | | Deletion (frameshift variant) | Neurodevelopmental delay | |
| | | Deletion (frameshift variant) | Neurodevelopmental delay | |
| | | Single nucleotide variant (5 prime UTR variant) | Intellectual disability, autosomal dominant 39 | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Intellectual disability, autosomal dominant 39 | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual disability, autosomal dominant 39 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability | |
| | | Copy number gain | not provided | |
| | | Duplication | Intellectual disability, autosomal dominant 39 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability | |
| | | Single nucleotide variant (intron variant) | Intellectual disability | |
| | | Single nucleotide variant (missense variant) | Intellectual disability | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 39 | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Duplication (frameshift variant) | Intellectual disability, autosomal dominant 39 | |