| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC126862570, RPL27 (L14V) | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 16 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC126862570, RPL27 (A15S) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126862570, RPL27 (A23S) | Single nucleotide variant (missense variant +1 more) | RPL27-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | RPL27-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC126862570, RPL27 (R21G) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC126862570, RPL27 (V13L) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | 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 (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Diamond-Blackfan anemia 16 | |
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