| | LOC126806099, LOC126806100 +104 more | Copy number gain | See cases | |
| | LOC129932995, LOC129932996 +653 more | Copy number gain | See cases | |
| | LOC126806176, LOC126806177 +1047 more | Copy number gain | See cases | |
| | LOC129933180, LOC129933181 +498 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC132088842, LOC132088843 +107 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126806115, LOC126806116 +237 more | Copy number gain | See cases | |
| | LOC129933242, LOC129933243 +1631 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126806154, LOC126806155 +546 more | 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 | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (5 prime UTR variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (5 prime UTR variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (5 prime UTR variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (5 prime UTR variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (5 prime UTR variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (5 prime UTR variant) | Diamond-Blackfan anemia 8 | |
| | | Deletion (splice donor variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (splice donor variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (splice donor variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (5 prime UTR variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (5 prime UTR variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia 8 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia 8 +1 more | |
| | | Deletion (frameshift variant) | Diamond-Blackfan anemia 8 | |
| | | Indel (splice donor variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (splice donor variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (splice donor variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (intron variant) | RPS7-related condition | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia 8 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia 8 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (splice donor variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 8 | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia 8 | |
| | | Deletion (intron variant) | Diamond-Blackfan anemia 8 | |