| | | Duplication | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (intron variant) | RPS10-related disorder | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Duplication (inframe_insertion) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia | |
| | RPS10, RPS10-NUDT3 (A115V) | Single nucleotide variant (missense 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 (intron variant) | Diamond-Blackfan anemia | |
| | | Duplication (intron variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | RPS10, RPS10-NUDT3 (R105W) | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | RPS10, RPS10-NUDT3 (R153G) | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Microsatellite (intron variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Duplication (inframe_insertion) | Diamond-Blackfan anemia | |
| | RPS10, RPS10-NUDT3 (D137N) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | RPS10, RPS10-NUDT3 (G161C) | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (splice donor variant) | RPS10-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | RPS10, RPS10-NUDT3 (G135C) | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | RPS10, RPS10-NUDT3 (R158H) | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia | |
| | RPS10, RPS10-NUDT3 (G155R) | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia | |
| | RPS10, RPS10-NUDT3 (P106L) | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia | |
| | | Duplication (intron variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense 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 | |
| | RPS10, RPS10-NUDT3 (Q165E) | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia | |
| | | Duplication (intron variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous 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 | |
| | RPS10, RPS10-NUDT3 (V90fs) | Deletion (frameshift 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 (intron variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous 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 (synonymous 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) | RPS10-related disorder +2 more | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia | |
| | RPS10, RPS10-NUDT3 (A142V) | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia | |
| | RPS10, RPS10-NUDT3 (R129W) | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | RPS10, RPS10-NUDT3 (R160H) | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (intron variant) | Diamond-Blackfan anemia | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | RPS10, RPS10-NUDT3 (R124K) | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia | |
| | RPS10, RPS10-NUDT3 (R98fs) | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Diamond-Blackfan anemia +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (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) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (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 | |