| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | 20q13.13qter duplication | |
| | LOC130066385, LOC130066386 +553 more | Copy number gain | See cases | |
| | LOC130066289, LOC130066290 +491 more | Copy number gain | See cases | |
| | LOC130066383, LOC130066384 +464 more | Copy number gain | See cases | |
| | LOC130066362, LOC130066363 +355 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication | 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 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 specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | EBV-positive nodal T- and NK-cell lymphoma | |
| | | 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 +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | 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 (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 | |
| | CABLES2, LOC130066308 (A23D) | Single nucleotide variant (missense variant) | not specified | |
| | CABLES2, LOC130066308 (A23T) | Single nucleotide variant (missense variant) | not specified | |
| | CABLES2, LOC130066308 (P20S) | Single nucleotide variant (missense variant) | not specified | |
| | CABLES2, LOC130066308 (P19A) | Single nucleotide variant (missense variant) | not specified | |
| | CABLES2, LOC130066308 (A17T) | Single nucleotide variant (missense variant) | not specified | |
| | CABLES2, LOC130066308 (A13D) | Single nucleotide variant (missense variant) | not specified | |
| | CABLES2, LOC130066308 (P12R) | Single nucleotide variant (missense variant) | not specified | |
| | CABLES2, LOC130066308 (P12L) | Single nucleotide variant (missense variant) | not specified | |
| | CABLES2, LOC130066308 (P12S) | Single nucleotide variant (missense variant) | not specified | |
| | CABLES2, LOC130066308 (P10L) | Single nucleotide variant (missense variant) | not specified | |
| | CABLES2, LOC130066308 (P10Q) | Single nucleotide variant (missense variant) | not specified | |
| | CABLES2, LOC130066308 (P10T) | Single nucleotide variant (missense variant) | not specified | |
| | CABLES2, LOC130066308 (A9V) | Single nucleotide variant (missense variant) | not specified | |
| | CABLES2, LOC130066308 (G7S) | Single nucleotide variant (missense variant) | not specified | |
| | CABLES2, LOC130066308 (A4V) | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Copy number gain | See cases | |
| | | Duplication | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | SLC2A4RG, SLCO4A1 +49 more | Duplication | Developmental and epileptic encephalopathy, 33 +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Breast ductal adenocarcinoma | |
| | | Complex | Breast ductal adenocarcinoma | |