Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | HBB, LOC106099062 +1 more (E7V +1 more) | Single nucleotide variant (missense variant) | HEMOGLOBIN JAMAICA PLAIN | |
| | HBB, LOC106099062 +1 more (E91K +1 more) | Single nucleotide variant (missense variant) | HEMOGLOBIN S (CAMEROON) | |
| | HBB, LOC106099062 +2 more (E7V +1 more) | Single nucleotide variant (missense variant) | HEMOGLOBIN S (TRAVIS) | |
| | HBB, LOC106099062 +1 more (K83N +1 more) | Single nucleotide variant (missense variant) | HEMOGLOBIN S (PROVIDENCE) | |
| | HBB, LOC107133510 +2 more (E122K +1 more) | Single nucleotide variant (missense variant) | Sickle cell-Hemoglobin O Arab disease | |
| | HBB, LOC106099062 +1 more (E7V +1 more) | Single nucleotide variant (missense variant) | HEMOGLOBIN S (ANTILLES) | |
| | HBB, LOC106099062 +1 more (E7V +1 more) | Single nucleotide variant (missense variant) | HEMOGLOBIN ZIGUINCHOR | |
| | HBB, LOC106099062 +1 more (D74N +1 more) | Single nucleotide variant (missense variant) | HEMOGLOBIN ZIGUINCHOR | |
| | HBB, LOC106099062 +1 more (E7K +1 more) | Single nucleotide variant (missense variant) | HEMOGLOBIN ARLINGTON PARK | |
| | HBB, LOC106099062 +1 more (E7V) | Single nucleotide variant (missense variant) | beta Thalassemia +15 more | |
| | HBB, LOC106099062 +1 more (E7K) | Single nucleotide variant (missense variant) | Heinz body anemia +15 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene