| | LOC129929105, LOC129929106 +2149 more | Copy number gain | Trisomy 12p | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | E2F2, LOC126805658 (R246G) | Single nucleotide variant (missense variant) | not specified | |
| | E2F2, LOC126805658 (A223V) | Single nucleotide variant (missense variant) | not specified | |
| | E2F2, LOC126805658 (T202I) | Single nucleotide variant (missense variant) | not provided | |
| | E2F2, LOC101928163 +1 more (D154N) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | E2F2, LOC101928163 +1 more (E147K) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | E2F2, LOC101928163 (S117I) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Lamb-Shaffer syndrome | |
| | ANGPTL7, C1orf127 +783 more | Copy number gain | Intellectual disability, mild +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Complex | Breast ductal adenocarcinoma | |
| | | Complex | Breast ductal adenocarcinoma | |