| | A2ML1-AS2, A3GALT2 +2151 more | Copy number gain | Trisomy 12p | |
| | | Copy number loss | See cases | |
| | LOC126805640, LOC126805641 +206 more | Copy number loss | See cases | |
| | EMC1-AS1, FAM43B +221 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | CAPZB, LOC132088603 (V180I +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | AADACL3, AADACL4 +207 more | Copy number loss | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Chromosome 1p36 deletion syndrome | |
| | | Duplication | Congenital disorder of glycosylation type Ir +2 more | |
| | | Duplication | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | 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 | |