| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130064829, NOP53 (K44N) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130064829, NOP53 (F63L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
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