| | AADACL3, AADACL4 +207 more | Copy number loss | not provided | |
| | MICOS10-NBL1, NBL1 (P177S +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | MICOS10-NBL1, NBL1 (G174R +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | MICOS10-NBL1, NBL1 (G147S +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | MICOS10-NBL1, NBL1 (V150A +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | MICOS10-NBL1, NBL1 (V169L +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | MICOS10-NBL1, NBL1 (E164D +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | MICOS10-NBL1, NBL1 (A136D +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | MICOS10-NBL1, NBL1 (A122T +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | MICOS10-NBL1, NBL1 (P106H +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | MICOS10-NBL1, NBL1 (P100L +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | MICOS10-NBL1, NBL1 (Q62R +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | A2ML1-AS2, A3GALT2 +2151 more | Copy number gain | Trisomy 12p | |
| | | Deletion | Chromosome 1p36 deletion syndrome | |
| | | Duplication | Congenital disorder of glycosylation type Ir +2 more | |
| | | Duplication | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | 1p36.1 deletion syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Global developmental delay +1 more | |
| | | Copy number gain | See cases | |
| | GPATCH2, GPATCH3 +2014 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Complex | Breast ductal adenocarcinoma | |
| | | Complex | Breast ductal adenocarcinoma | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126805640, LOC126805641 +206 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | EMC1-AS1, FAM43B +221 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |