| | | Copy number gain | See cases | |
| | LOC129929833, LOC129929834 +1 more | Copy number loss | See cases | |
| | ATAD3C, AURKAIP1 +520 more | Copy number loss | See cases | |
| | LOC129929144, LOC129929145 +458 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC121967041, MIR12136 +2 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LINC01786, LINC02593 +338 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 | |
| | | 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 | |
| | | Copy number gain | See cases | |
| | LOC129929082, LOC129929083 +238 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129929188, LOC129929189 +332 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | TMEM201, TMEM240 +806 more | 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 | |
| | | 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 | |
| | LOC129929181, LOC129929182 +401 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129929093, LOC129929094 +274 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 | |
| | | Copy number loss | 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 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LINC02593, LOC107985728 +2 more | Copy number gain | See cases | |
| | KLHL17, LINC02593 +13 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LINC02593, LOC107985728 +5 more | 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 | |
| | LOC129929186, LOC129929187 +577 more | Copy number loss | See cases | |
| | LOC121677383, LOC121967042 +277 more | Copy number loss | See cases | |
| | LOC132088688, LOC132088689 +264 more | 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 | |
| | | Deletion (splice donor variant) | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126805576, LOC126805577 +68 more | Deletion | Congenital myasthenic syndrome 8 | |
| | | Copy number loss | See cases | |
| | AGRN, LOC100288175 +10 more | Copy number gain | See cases | |
| | AGRN, LOC100288175 +10 more | Copy number gain | See cases | |
| | LOC129929177, LOC129929178 +209 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129929100, MIR200A +15 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion (splice acceptor variant +1 more) | not provided | |
| | | Deletion | Large for gestational age +1 more | |
| | | Deletion | Harel-Yoon syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion (splice acceptor variant +1 more) | Harel-Yoon syndrome | |
| | CDK11A, LOC121677382 +4 more | Deletion | Large for gestational age | |
| | CDK11A, LOC129929146 +1 more | Deletion | Normal pregnancy | |
| | ACTRT2, ARHGEF16 +117 more | Copy number gain | See cases | |
| | | Duplication | Idiopathic generalized epilepsy | |
| | FAAP20, LOC112268219 +10 more | Copy number loss | See cases | |
| | LOC126805579, LOC129929177 +7 more | Duplication | Shprintzen-Goldberg syndrome | |
| | | Duplication | Gestational diabetes mellitus uncontrolled | |
| | | Duplication | Small for gestational age | |