| | | Copy number gain | See cases | |
| | | Duplication | Intellectual disability, autosomal dominant 5 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC123620086, ZBTB22 (P467S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC123620086, ZBTB22 (G465D) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC123620086, ZBTB22 (G446R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC123620086, ZBTB22 (P415S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC123620086, ZBTB22 (A408P) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC123620086, ZBTB22 (S357N) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC123620086, ZBTB22 (L340V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication | not provided | |
| | | Duplication | Proteasome-associated autoinflammatory syndrome 1 | |
| | | Copy number gain | not specified | |
| | | Duplication | Intellectual disability, autosomal dominant 5 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Breast ductal adenocarcinoma | |