| | LOC129929833, LOC129929834 +1 more | Copy number loss | See cases | |
| | LOC129929105, LOC129929106 +2149 more | Copy number gain | Trisomy 12p | |
| | LOC129929074, LOC129929075 +520 more | Copy number loss | See cases | |
| | LOC129929144, LOC129929145 +458 more | Copy number loss | See cases | |
| | LOC129929179, LOC129929180 +282 more | Copy number loss | See cases | |
| | LOC121967041, MIR12136 +1 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LINC01786, LINC02593 +338 more | Copy number gain | See cases | |
| | TMEM240, TMEM88B +181 more | Deletion | Chromosome 1p36 deletion syndrome | |
| | LOC129929191, LOC129929192 +325 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129929104, LOC129929105 +249 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 | |
| | LOC129929084, LOC129929085 +320 more | Copy number gain | 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 gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129929192, LOC129929193 +490 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 | |
| | LOC129929161, LOC129929162 +252 more | Copy number loss | See cases | |
| | LOC129929114, LOC129929115 +244 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LINC01786, LINC02593 +339 more | Copy number loss | See cases | |
| | LOC129929237, LOC129929238 +401 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 | |
| | | 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 | |
| | LOC126805582, LOC129388419 +253 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129929075, LOC129929076 +464 more | 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 | |
| | LINC02593, LOC100288175 +38 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129929302, LOC129929303 +577 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129929169, LOC129929170 +231 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | 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 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129929100, MIR200A +15 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion (splice acceptor variant +1 more) | Combined immunodeficiency due to OX40 deficiency | |
| | LOC129929178, LOC129929179 +195 more | Copy number gain | See cases | |
| | LOC129929114, DVL1 (S562fs +1 more) | Deletion (frameshift variant) | Autosomal dominant Robinow syndrome 2 | |
| | | Deletion | Large for gestational age +1 more | |
| | | Deletion | Harel-Yoon syndrome | |
| | | Copy number loss | Harel-Yoon syndrome +1 more | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | 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 | |
| | FAAP20, LOC112268219 +10 more | Copy number loss | See cases | |
| | LOC126805579, LOC129929177 +7 more | Duplication | Shprintzen-Goldberg syndrome | |
| | LOC126805582, LOC126805583 +88 more | Copy number gain | Anomalous pulmonary venous return | |
| | LOC100996583, LOC121967050 +7 more | Copy number gain | See cases | |