| | LOC129929105, LOC129929106 +2149 more | Copy number gain | Trisomy 12p | |
| | AADACL3, AADACL4 +804 more | Copy number loss | See cases | |
| | LOC129929300, LOC129929301 +730 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +557 more | Copy number loss | See cases | |
| | PRAMEF7, PRAMEF8 +563 more | Copy number gain | See cases | |
| | AADACL3, AADACL4 +462 more | Copy number loss | See cases | |
| | LOC129929360, LOC129929361 +370 more | Copy number loss | See cases | |
| | LOC110120623, LOC110120648 +361 more | Duplication | not specified | |
| | AADACL3, AADACL4 +304 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +337 more | Copy number loss | See cases | |
| | LOC112577504, LOC112577505 +316 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +209 more | Copy number gain | See cases | |
| | AADACL3, AADACL4 +288 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | HNRNPCL2, HNRNPCL3 +17 more | Copy number loss | See cases | |
| | PRAMEF13, PRAMEF14 (R424C) | Single nucleotide variant (missense variant) | not specified | |
| | PRAMEF13, PRAMEF14 (L356W) | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | Chromosome 1p36 deletion syndrome | |
| | AADACL3, AADACL4 +143 more | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | ANGPTL7, C1orf127 +783 more | Copy number gain | Intellectual disability, mild +1 more | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | AADACL3, AADACL4 +212 more | Complex | Breast ductal adenocarcinoma | |
| | C1orf159, C1orf167 +314 more | Complex | Breast ductal adenocarcinoma | |