| | LOC130060143, LOC130060144 +963 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130060077, LOC130060078 +911 more | Copy number gain | Chromosome 17p13.3 duplication syndrome | |
| | LOC126862500, LOC126862501 +461 more | Copy number gain | See cases | |
| | ALOX12B, ALOX15B +191 more | Copy number loss | See cases | |
| | ALOX12B, ALOX15B +141 more | Deletion | Li-Fraumeni syndrome | |
| | LOC112533665, LOC116276454 +141 more | Deletion | Li-Fraumeni syndrome +2 more | |
| | LOC130060203, LOC130060204 +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 +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 condition +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 | |
| | | 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 | |
| | | Deletion (intron variant) | Diamond-Blackfan anemia 11 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | 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 | |
| | | Duplication | Diamond-Blackfan anemia | |
| | | Duplication | Dyskeratosis congenita +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |