| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC00578, LINC00880 +1317 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129937828, LOC129937829 +1244 more | Copy number gain | See cases | |
| | LOC129938023, LOC129938024 +1200 more | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +1064 more | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +1041 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +866 more | Copy number gain | See cases | |
| | LOC110121069, LOC110121110 +557 more | Copy number loss | See cases | |
| | | 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 gain | See cases | |
| | | Copy number gain | See cases | |
| | MELTF-AS1, MIR4797 +166 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Diamond-Blackfan anemia 5 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (intron variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Deletion | Diamond-Blackfan anemia 5 | |
| | | Deletion | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 5 | |
| | | Deletion (intron variant) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | RPL35A-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (intron variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Microsatellite (inframe_deletion +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Deletion (frameshift variant +1 more) | Diamond-Blackfan anemia +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Deletion (nonsense +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (intron variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 5 | |
| | | Deletion (intron variant +1 more) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Diamond-Blackfan anemia 5 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (nonsense +1 more) | Diamond-Blackfan anemia 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia | |