| | | Copy number gain | See cases | |
| | PDE9A-AS1, PDXK +1160 more | Copy number gain | See cases | |
| | LOC130066843, LOC130066844 +1160 more | Copy number gain | See cases | |
| | LOC126653343, LOC126653344 +1160 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC00315, LINC00316 +1160 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126653350, LOC126653351 +1159 more | Copy number gain | See cases | |
| | LINC00111, LINC00112 +1160 more | Copy number gain | See cases | |
| | ADAMTS1, ADAMTS5 +643 more | Copy number loss | See cases | |
| | TSPEAR-AS1, TSPEAR-AS2 +1160 more | Copy number gain | See cases | |
| | LOC130066578, LOC130066579 +1159 more | Copy number gain | See cases | |
| | LOC126653316, LOC126653317 +1157 more | Copy number gain | See cases | |
| | LOC130066758, LOC130066759 +1159 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066717, LOC130066718 +1157 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC125418051, LOC125418052 +1159 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066756, LOC130066757 +1157 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | KRTAP12-3, KRTAP12-4 +1157 more | Copy number gain | See cases | |
| | LOC107403153, LOC107548109 +1155 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066735, LOC130066736 +1156 more | Copy number loss | See cases | |
| | LOC126653329, LOC130066449 +219 more | Copy number loss | Monosomy 21 | |
| | LOC112694734, LOC116309120 +118 more | Copy number gain | See cases | |
| | ADAMTS1, ADAMTS5 +256 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ADAMTS1, ADAMTS5 +214 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | C21orf91, LOC125387325 +209 more | Copy number loss | Monosomy 21 | |
| | ADAMTS1, ADAMTS5 +300 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130066445, LOC130066446 +102 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130066465, LOC130066466 +46 more | Deletion | not provided | |
| | | Copy number gain | See cases | |
| | BTG3, CXADR (R284W +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | BTG3, CXADR (P277L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | BTG3, CXADR (G244S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | BTG3, CXADR (P231A +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | BTG3, CXADR (F179I +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | BTG3, CXADR (P214A +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | BTG3, CXADR (V164A +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | BTG3, CXADR (S207L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | BTG3, CXADR (S116T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | EBV-positive nodal T- and NK-cell lymphoma | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Down syndrome | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | KRTAP13-1, KRTAP13-2 +216 more | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | Neurodevelopmental disorder | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | 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 | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication | Alzheimer disease +1 more | |