| | 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 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC129929063, SAMD11 (V687I +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129929063, SAMD11 (V687E +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | SAMD11, LOC129929063 (G690R +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129929063, SAMD11 (G526E +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | SAMD11, LOC129929063 (S528F +2 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | LOC129929063, SAMD11 (M529V +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129929063, SAMD11 (M692R +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129929063, SAMD11 (D694V +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129929063, SAMD11 (D530E +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | SAMD11, LOC129929063 (G531R +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129929063, SAMD11 (G531E +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129929063, SAMD11 (E533del +2 more) | Microsatellite (inframe_deletion) | not provided | |
| | | Single nucleotide variant (synonymous variant) | SAMD11-related disorder +1 more | |
| | LOC129929063, SAMD11 (E696D +2 more) | Single nucleotide variant (missense variant) | not provided | |