| | ARMCX3, CT47A11 +2631 more | Duplication | Autism +1 more | |
| | | Copy number loss | See cases | |
| | LOC130068194, LOC130068195 +2632 more | Copy number loss | See cases | |
| | LOC126863191, LOC126863192 +2633 more | Copy number gain | See cases | |
| | LOC130068432, LOC130068433 +2633 more | Copy number loss | See cases | |
| | LOC130068031, LOC130068032 +2633 more | Copy number gain | See cases | |
| | LOC110120594, LOC110120595 +2633 more | Copy number loss | See cases | |
| | LOC130067964, LOC130067965 +2633 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129391293, LOC129391294 +1628 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC119407398, LOC119407399 +2632 more | Copy number loss | See cases | |
| | FAM223B, FAM226A +2628 more | Copy number loss | See cases | |
| | LOC126863207, LOC126863208 +2628 more | Copy number gain | See cases | |
| | LOC130068458, LOC130068459 +2633 more | Copy number gain | See cases | |
| | LOC113875011, LOC113875012 +2633 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130068362, LOC130068363 +2632 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130068054, LOC130068055 +2631 more | Copy number loss | See cases | |
| | LOC126863302, LOC126863303 +2631 more | Copy number gain | See cases | |
| | LOC119407406, LOC119407407 +2632 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126863301, LOC126863302 +2632 more | Copy number gain | See cases | |
| | LOC130067921, LOC130067922 +1798 more | Copy number gain | See cases | |
| | LOC126863205, LOC126863206 +2632 more | Copy number gain | See cases | |
| | LOC107985687, LOC107988021 +2632 more | Copy number loss | See cases | Gconflicting data from submitters |
| | LOC130067947, LOC130067948 +2632 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126863296, LOC126863297 +2593 more | Copy number gain | See cases | |
| | LOC130068368, LOC130068369 +2593 more | Copy number gain | See cases | |
| | LOC130067891, LOC130067892 +2595 more | Copy number gain | See cases | |
| | LOC130068100, LOC130068101 +2585 more | 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 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC113875008, LOC113875009 +1467 more | Copy number gain | See cases | |
| | LOC130068588, LOC130068589 +1467 more | Copy number gain | See cases | |
| | LOC116309158, LOC116309159 +1466 more | Copy number gain | See cases | |
| | GPRASP2, GPRASP3 +1464 more | Copy number loss | See cases | |
| | LOC130068848, LOC130068849 +1254 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | DNAAF6, DNASE1L1 +1244 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130068886, LOC130068887 +1230 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC125467786, LOC125467787 +1203 more | Copy number loss | See cases | |
| | LOC113875015, LOC113875016 +1197 more | Copy number loss | See cases | |
| | CT45A10, CT45A2 +1193 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126863293, LOC126863294 +478 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130068516, LOC130068517 +1180 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130068676, LOC130068677 +1152 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130068811, LOC130068812 +1141 more | Copy number gain | See cases | |
| | LOC130068857, LOC130068858 +1123 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130068686, LOC130068687 +1075 more | Copy number loss | See cases | |
| | | Duplication | Pelizaeus-Merzbacher disease | |
| | | Deletion | Pelizaeus-Merzbacher disease | |
| | | Duplication | 9q34 microduplication syndrome | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Klinefelter syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Klinefelter syndrome | |
| | | Copy number loss | Turner syndrome | |
| | | Copy number loss | Turner syndrome | |
| | | Copy number gain | Hypotonia +2 more | |