| | LOC130066574, LOC130066575 +1159 more | Copy number gain | See cases | |
| | LOC130066796, LOC130066797 +1160 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066513, LOC130066514 +1160 more | Copy number gain | See cases | |
| | LOC126653326, LOC126653327 +1160 more | Copy number gain | See cases | |
| | LOC130066833, LOC130066834 +1160 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066700, LOC130066701 +1159 more | Copy number gain | See cases | |
| | LOC130066665, LOC130066666 +1160 more | Copy number gain | See cases | |
| | ADAMTS1, ADAMTS5 +643 more | Copy number loss | See cases | |
| | LOC126653316, LOC126653317 +1160 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066758, LOC130066759 +1159 more | Copy number gain | See cases | |
| | LOC130066436, LOC130066437 +1159 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | KRTAP13-3, KRTAP13-4 +1157 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066541, LOC130066542 +1159 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066593, LOC130066594 +1155 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066830, LOC130066831 +1155 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129391220, LOC129391221 +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 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129391221, LOC129391222 +121 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130066465, LOC130066466 +46 more | Deletion | not provided | |
| | | Copy number gain | See cases | |
| | CXADR, BTG3 (P277L +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | BTG3, CXADR (F179I +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | BTG3, CXADR (V164A +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | BTG3, CXADR (S207L +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | BTG3, CXADR (S116T +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | 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 | Complete trisomy 21 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 | |