| | LOC130057927, LOC130057928 +1764 more | Copy number gain | See cases | |
| | LOC116268473, LOC116268474 +1244 more | Copy number gain | See cases | |
| | | Copy number loss | Diamond-Blackfan anemia 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 4 +1 more | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | Diamond-Blackfan anemia 4 +2 more | |
| | | Microsatellite (frameshift variant +1 more) | Diamond-Blackfan anemia 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Diamond-Blackfan anemia 4 | |
| | | Single nucleotide variant (splice acceptor variant) | Diamond-Blackfan anemia 4 | |
| | | Deletion (inframe_deletion +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Diamond-Blackfan anemia | |
| | | Deletion (frameshift variant +1 more) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant +2 more) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant | not specified | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Duplication | Bloom syndrome +1 more | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | 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 loss | See cases | |
| | ALDH1A2, ALDH1A3 +444 more | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | Diamond-Blackfan anemia 4 | |