| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | GGTLC2, IGL (E214K +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GGTLC2, IGL (V197I +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GGTLC2, IGL (A220T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GGTLC2, IGL (R179Q +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GGTLC2, IGL (R179W +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GGTLC2, IGL (I168T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GGTLC2, IGL (R166S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | GGTLC2, IGL (S123T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | 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 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | GGTLC2, IGL (R198C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GGTLC2, IGL (R232H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | Schwannomatosis 1 | |
| | GGTLC2, IGL (G235C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GGTLC2, IGL (M130T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | GGTLC2, IGL (T162M +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GGTLC2, IGL (L158P +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | 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 | |
| | | Deletion | Schizophrenia | |
| | | Duplication | Schizophrenia | |
| | | 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 | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ZNF280A, ZNF280B +438 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |