| | LOC129933244, LOC129933245 +653 more | Copy number gain | See cases | |
| | LOC126806103, LOC126806104 +1047 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129933186, LOC129933187 +736 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129933017, LOC129933018 +237 more | Copy number gain | See cases | |
| | LOC129933311, LOC129933312 +1631 more | Copy number gain | See cases | |
| | LINC01115, LINC01121 +1400 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LINC01248, LINC01810 +7 more | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Deletion (inframe_deletion) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | 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) | not provided | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (missense variant) | SOX11-related disorder | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 +1 more | |
| | | Single nucleotide variant (missense variant) | Craniosynostosis syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Insertion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Microsatellite (inframe_insertion) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 27 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism | |