| | LOC129993132, LOC129993133 +420 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC02479, LINC02485 +185 more | Copy number loss | See cases | |
| | LOC129993091, LOC129993092 +1068 more | Copy number gain | See cases | |
| | LOC132090717, LOC132090718 +1051 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129993335, LOC129993336 +1026 more | Copy number gain | See cases | |
| | LOC126807166, LOC129993105 +5 more | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal dominant 50 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Intellectual disability, autosomal dominant 50 +3 more | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, autosomal dominant 50 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (splice donor variant) | Intellectual disability, autosomal dominant 50 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 50 | |
| | | Deletion (frameshift variant) | Intellectual disability, autosomal dominant 50 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | Inborn genetic diseases | |
| | | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 50 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | Intellectual disability, autosomal dominant 50 +1 more | |
| | | Duplication (frameshift variant) | Intellectual disability, autosomal dominant 50 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 50 | |
| | | Insertion (frameshift variant) | Intellectual disability, autosomal dominant 50 | |
| | | Deletion (frameshift variant) | Inborn genetic diseases +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron 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 (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 50 +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion +1 more) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, autosomal dominant 50 | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, autosomal dominant 50 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 50 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (inframe_indel) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | NAA15-related disorder | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, autosomal dominant 50 +2 more | |
| | | Duplication (frameshift variant) | Intellectual disability, autosomal dominant 50 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | NAA15-related disorder | |
| | | Deletion (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Intellectual disability, autosomal dominant 50 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |