| | LOC112340388, LOC112441449 +821 more | Copy number gain | See cases | |
| | LOC130058535, LOC130058536 +916 more | Copy number gain | See cases | |
| | LOC105371046, LOC105371050 +842 more | Copy number gain | See cases | |
| | LOC130058149, LOC130058150 +925 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | 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 | |
| | | Single nucleotide variant | not provided | |
| | | Deletion | MHC class II deficiency | |
| | | Duplication | Landau-Kleffner syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Duplication | MHC class II deficiency +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Microcephaly | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Complex | Hemimegalencephaly | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
| | | Copy number gain | See cases | |