| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | EPN3, LOC130061172 (Q551E) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | EPN3, LOC130061172 (L590W) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | EPN3, LOC130061172 (Q601P) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | EPN3, LOC130061172 (G603E) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
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