| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | EPOR, LOC130063571 (A112V) | Single nucleotide variant (missense variant +1 more) | Primary familial polycythemia due to EPO receptor mutation | |
| | EPOR, LOC130063570 (A130T) | Single nucleotide variant (non-coding transcript variant +1 more) | Primary familial polycythemia due to EPO receptor mutation | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
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