| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | Deletion of short arm of chromosome 18 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | Deletion of short arm of chromosome 18 | |
| | | Duplication | Dystonic disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Deletion of short arm of chromosome 18 | |
| | | Copy number gain | Trisomy 18 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Deletion of short arm of chromosome 18 | |
| | | Deletion | Intellectual disability | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion | Deletion of short arm of chromosome 18 | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | 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 loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | DLGAP1-AS2, SMCHD1 +54 more | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | 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 loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | TNFRSF11A, TXNL1 +267 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130062393, LOC130062394 +1643 more | Copy number gain | See cases | |
| | LOC130062144, LOC130062145 +368 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129390958, LOC130062070 +300 more | Copy number gain | See cases | |
| | LOC130062208, LOC130062209 +322 more | Copy number gain | See cases | |
| | LINC01478, LINC01538 +1643 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | NDUFV2-AS1, PIEZO2 +374 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062575, LOC130062576 +1643 more | Copy number gain | See cases | |
| | LINC00683, LINC00907 +1643 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130062167, LOC130062168 +367 more | Copy number loss | See cases | |
| | LOC125338465, LOC125338466 +367 more | 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 gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130062104, LOC130062105 +368 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130062147, LOC130062148 +339 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |