| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC120908923, LOC120947224
+1352 more | Copy number gain | See cases | |
| | EGLN1, LOC129932769 (I269T) | Single nucleotide variant (missense variant) | Erythrocytosis, familial, 3 +2 more | |
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