Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | HBB, LOC106099062
+2 more (V12I +1 more) | Single nucleotide variant (missense variant) | HEMOGLOBIN O (TIBESTI) | |
| | HBB, LOC107133510
+2 more (E122K +1 more) | Single nucleotide variant (missense variant) | Sickle cell-Hemoglobin O Arab disease | |
| | HBB, LOC107133510
+1 more (E122K) | Single nucleotide variant (missense variant) | Erythrocytosis, familial, 6 +11 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene