| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 1 | |
| | | Duplication (nonsense) | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia +1 more | |
| | | Deletion (frameshift variant) | Diamond-Blackfan anemia 1 | |
| | | Deletion (frameshift variant) | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia 1 | |
| | | Deletion (frameshift variant) | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia 1 | |
| | | Deletion (frameshift variant) | Diamond-Blackfan anemia 1 | |
| | | Microsatellite (frameshift variant) | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 1 +1 more | |
| | | Deletion (intron variant) | Diamond-Blackfan anemia +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant (splice donor variant) | Diamond-Blackfan anemia 1 | |
| | | Deletion (frameshift variant) | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Diamond-Blackfan anemia 21 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Diamond-Blackfan anemia 1 +1 more | GConflicting classifications of pathogenicity |
| | | Indel (frameshift variant) | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Diamond-Blackfan anemia 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Diamond-Blackfan anemia 1 +1 more | |
| | | Duplication (frameshift variant) | Diamond-Blackfan anemia 1 | |
| | | Deletion (frameshift variant +2 more) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia +1 more | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia +2 more | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia +3 more | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 6 +4 more | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia 1 +2 more | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Diamond-Blackfan anemia +4 more | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia +3 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Deletion | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia 1 | |
| | | Inversion (missense variant +1 more) | Diamond-Blackfan anemia 1 | |
| | | Deletion (frameshift variant) | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Diamond-Blackfan anemia 1 | |
| | | Single nucleotide variant (nonsense) | Diamond-Blackfan anemia 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia 1 +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +2 more | |