| | | Copy number gain | See cases | |
| | LOC130059883, LOC130059884 +922 more | Copy number gain | See cases | |
| | | 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 | |
| | | Microsatellite | not provided | |
| | | Duplication | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (stop lost) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia +2 more | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia 11 +1 more | |
| | | Deletion (frameshift variant) | Diamond-Blackfan anemia 11 | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia 11 +1 more | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Duplication (intron variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia | |
| | | Indel (intron variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia +1 more | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 11 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | RPL26-related disorder +1 more | |
| | | Deletion (frameshift variant) | Diamond-Blackfan anemia 11 | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia +1 more | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia 11 +1 more | |
| | | Deletion (frameshift variant) | Diamond-Blackfan anemia 11 | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (splice acceptor variant) | Diamond-Blackfan anemia 11 | |
| | | Deletion (intron variant) | Diamond-Blackfan anemia 11 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (5 prime UTR variant +1 more) | Diamond-Blackfan anemia 11 | |
| | | 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 | |