| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932493, LOC129932494 +1325 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932930, LOC129932931 +967 more | Copy number gain | See cases | |
| | LOC129932702, LOC129932703 +954 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932675, LOC129932676 +952 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932908, LOC129932909 +270 more | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | SNORA100, SPMIP3 +274 more | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | LOC128598893, LOC128598894 +273 more | Copy number gain | See cases | |
| | LOC122152349, LOC122152350 +272 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129932970, LOC129932971 +253 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC122152355, LOC122152356 +230 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LINC01743, LINC02774 +235 more | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Developmental delay | |
| | | 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 22 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, autosomal dominant 22 +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 22 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Intellectual disability, autosomal dominant 22 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 22 +1 more | |
| | | Single nucleotide variant (missense variant) | ZBTB18-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion (frameshift variant) | Intellectual disability, autosomal dominant 22 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 22 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (inframe_insertion +1 more) | Intellectual disability, autosomal dominant 22 | |
| | | Duplication (frameshift 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 (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Intellectual disability, autosomal dominant 22 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | 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) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 22 | |
| | | 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 (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | ZBTB18-related condition | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, autosomal dominant 22 | |
| | | 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) | not provided | |
| | | Single nucleotide variant (missense variant) | ZBTB18-related condition | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 22 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | ZBTB18-related condition | |