| | | 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 | |
| | ADAMTS1, ADAMTS5 +300 more | Copy number loss | See cases | |
| | ADAMTS1, ADAMTS5 +213 more | Copy number loss | See cases | |
| | | Copy number loss | Monosomy 21 | |
| | | Copy number gain | See cases | |
| | | 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 provided | |
| | | 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 | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Complete trisomy 21 syndrome | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | KRTAP13-1, KRTAP13-2 +216 more | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | KRTAP19-7, KRTAP19-1 +34 more | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | C21orf62, CFAP298 +43 more | Copy number loss | not provided | |
| | KRTAP13-3, KRTAP13-2 +20 more | 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 gain | not provided | |
| | KRTAP19-1, KRTAP19-7 +24 more | Copy number gain | not provided | |
| | KRTAP13-4, KRTAP27-1 +16 more | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | KRTAP19-7, KRTAP19-8 +35 more | 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 | |