| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130060077, LOC130060078 +911 more | Copy number gain | Chromosome 17p13.3 duplication syndrome | |
| | | Copy number gain | See cases | |
| | ALOX12B, ALOX15B +191 more | Copy number loss | See cases | |
| | LOC130060195, LOC130060196 +141 more | Deletion | Li-Fraumeni syndrome | |
| | KCNAB3, LOC130060206 +141 more | Deletion | Li-Fraumeni syndrome +2 more | |
| | ALOX12B, ALOX15B +110 more | Copy number gain | See cases | |
| | | 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 +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | not provided | |
| | | Copy number gain | not specified | |
| | TMEM88, TRG-GCC2-6 +31 more | Duplication | not provided | |
| | | Deletion | Li-Fraumeni syndrome | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Deletion | Diamond-Blackfan anemia | |
| | | Duplication | Diamond-Blackfan anemia +1 more | |
| | SLC25A35, ARHGEF15 +4 more | Duplication | Diamond-Blackfan anemia | |
| | | Duplication | Diamond-Blackfan anemia +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 gain | See cases | |