| | | Copy number gain | See cases | |
| | LOC130067011, LOC130067012 +535 more | Copy number gain | See cases | |
| | LOC126863153, LOC126863154 +2088 more | Copy number gain | See cases | |
| | ADORA2A, ADORA2A-AS1 +798 more | Copy number gain | See cases | |
| | FAM246B, FAM246C +378 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130067137, LOC130067138 +823 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | IGLV3-1, IGLV3-10 +177 more | Copy number gain | See cases | |
| | IGLV3-16, IGLV3-19 +180 more | 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 gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Duplication | Schizophrenia | |
| | | Deletion | Schizophrenia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | 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 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | GGTLC2, IGL (M130T +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | GGTLC2, IGL (L158P +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | GGTLC2, IGL (T162M +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | GGTLC2, IGL (R198C +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | GGTLC2, IGL (R232H +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | GGTLC2, IGL (G235C +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Chromosome 22q11.2 deletion syndrome, distal | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Schwannomatosis 1 | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Chromosome 22q11.2 microduplication syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Chromosome 22q11.2 microduplication syndrome | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Cat eye syndrome +1 more | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Chromosome 22q11.2 deletion syndrome, distal | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | DiGeorge syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Abnormality of the vertebral column +2 more | |
| | | Copy number gain | Global developmental delay | |
| | | Copy number loss | Chromosome 22q11.2 deletion syndrome, distal | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | C22orf15, C22orf23 +435 more | Copy number gain | See cases | |