| - GRCh37:
- Chr11:5246486-5247105
- GRCh38:
- Chr11:5225256-5225875
| HBB, LOC107133510, LOC110006319 | | Inborn genetic diseases, Beta-thalassemia major | Pathogenic
(Mar 19, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248030
- GRCh38:
- Chr11:5226800
| HBB, LOC106099062, LOC107133510 | | Beta-thalassemia major, not provided | Pathogenic
(Mar 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5246958
- GRCh38:
- Chr11:5225728
| LOC107133510, LOC110006319, HBB | | not provided, Beta-thalassemia major | Pathogenic
(Jun 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5247153
- GRCh38:
- Chr11:5225923
| LOC107133510, LOC110006319, HBB | | HBB-related condition, not provided, Beta-thalassemia major,
Hb SS disease, beta Thalassemia | Pathogenic
(Nov 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248050
- GRCh38:
- Chr11:5226820
| HBB, LOC106099062, LOC107133510 | | Beta-thalassemia HBB/LCRB, Hb SS disease, Dominant beta-thalassemia,
Methemoglobinemia, beta-globin type, beta Thalassemia, alpha Thalassemia,
Erythrocytosis, familial, 6, Malaria, susceptibility to, Fetal hemoglobin quantitative trait locus 1,
Heinz body anemia, Inborn genetic diseasesnot provided,
Beta-thalassemia major, Fetal hemoglobin quantitative trait locus 1, Hb SS disease,
beta Thalassemia, ...see more | Pathogenic/Likely pathogenic
(May 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248155
- GRCh38:
- Chr11:5226925
| HBB, LOC106099062, LOC107133510 | | not provided, Beta-thalassemia major | Pathogenic
(Jun 26, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248155
- GRCh38:
- Chr11:5226925
| LOC107133510, LOC106099062, HBB | | Beta-thalassemia HBB/LCRB, Hb SS disease, Dominant beta-thalassemia,
Methemoglobinemia, beta-globin type, beta Thalassemia, alpha Thalassemia,
Erythrocytosis, familial, 6, Malaria, susceptibility to, Fetal hemoglobin quantitative trait locus 1,
Heinz body anemia, Inborn genetic diseasesnot provided,
Beta-thalassemia major, beta Thalassemia, Hb SS disease,
...see more | Pathogenic
(Dec 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248160
- GRCh38:
- Chr11:5226930
| HBB, LOC106099062, LOC107133510 | R31T | Beta-thalassemia HBB/LCRB, Beta-thalassemia major, not provided,
beta Thalassemia, Hb SS disease | Pathogenic
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |