| | 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 | |
| | | 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 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 | |
| | 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 | |
| | | Copy number loss | See cases | |
| | | 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 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 8 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 8 | |
| | AGRN, LOC129929077 (S110A +1 more) | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +1 more | |
| | AGRN, LOC129929077 (S110F +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | AGRN, LOC129929077 (Y217C +1 more) | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 8 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 8 | |
| | AGRN, LOC129929077 (E115Q +1 more) | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 8 | |
| | AGRN, LOC129929077 (E117K +1 more) | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 | |
| | AGRN, LOC129929077 (L223fs +1 more) | Duplication (frameshift variant) | Congenital myasthenic syndrome 8 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 8 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 8 | |
| | AGRN, LOC129929077 (A121S +1 more) | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 8 | |
| | AGRN, LOC129929077 (S229N +1 more) | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 | |
| | AGRN, LOC129929077 (Q230R +1 more) | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 | |
| | AGRN, LOC129929077 (Q231H +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 8 | |
| | AGRN, LOC129929077 (R233G +1 more) | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 | |
| | AGRN, LOC129929077 (R233L +1 more) | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 | |
| | AGRN, LOC129929077 (I129V +1 more) | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 8 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 8 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 8 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 8 | |