| | | Copy number gain | See cases | |
| | LOC126862582, LOC126862583 +1753 more | Copy number gain | See cases | |
| | LOC130060786, LOC130060787 +633 more | Copy number gain | See cases | |
| | | Deletion (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Diamond-Blackfan anemia 16 | |
| | | Single nucleotide variant (synonymous variant +1 more) | RPL27-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +1 more | |
| | LOC126862570, RPL27 (V13L) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126862570, RPL27 (L14V) | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 16 | |
| | LOC126862570, RPL27 (A15S) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126862570, RPL27 (R21G) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC126862570, RPL27 (A23S) | Single nucleotide variant (missense variant +1 more) | RPL27-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | 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 (synonymous variant) | RPL27-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Indel (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense 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 (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | RPL27-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Indel (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | RPL27-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 16 +1 more | |
| | | Single nucleotide variant | not provided | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | ALOX12, ALOX12B +1143 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |