| - GRCh37:
- Chr11:5248232
- Chr11:5247917
- GRCh38:
- Chr11:5227002
- Chr11:5226687
| HBB, LOC106099062, LOC107133510, HBB, LOC106099062, LOC107133510 | E7V, L69F | HEMOGLOBIN JAMAICA PLAIN | other
(Dec 12, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr11:5247851
- Chr11:5248232
- GRCh38:
- Chr11:5226621
- Chr11:5227002
| HBB, LOC106099062, LOC107133510, HBB, LOC106099062, LOC107133510 | E91K, E7V | HEMOGLOBIN S (CAMEROON) | Pathogenic
(May 1, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr11:5248232
- Chr11:5246844
- GRCh38:
- Chr11:5227002
- Chr11:5225614
| HBB, LOC106099062, LOC107133510, HBB, LOC107133510, LOC110006319 | E7V, A143V | HEMOGLOBIN S (TRAVIS) | Pathogenic
(Jan 1, 1992) | no assertion criteria provided |
| - GRCh37:
- Chr11:5247873
- Chr11:5248232
- GRCh38:
- Chr11:5226643
- Chr11:5227002
| HBB, LOC106099062, LOC107133510, HBB, LOC106099062, LOC107133510 | K83N, E7V | HEMOGLOBIN S (PROVIDENCE) | Pathogenic
(Oct 1, 1988) | no assertion criteria provided |
| - GRCh37:
- Chr11:5246908
- Chr11:5248232
- GRCh38:
- Chr11:5225678
- Chr11:5227002
| LOC107133510, LOC110006319, HBB, HBB, LOC106099062, LOC107133510 | E122K, E7V | Sickle cell-Hemoglobin O Arab disease | Pathogenic
(Apr 1, 1999) | no assertion criteria provided |
| - GRCh37:
- Chr11:5248232
- Chr11:5248182
- GRCh38:
- Chr11:5227002
- Chr11:5226952
| HBB, LOC106099062, LOC107133510, HBB, LOC106099062, LOC107133510 | E7V, V24I | HEMOGLOBIN S (ANTILLES) | Pathogenic
(Jun 1, 1997) | no assertion criteria provided |
| - GRCh37:
- Chr11:5248232
- Chr11:5247946
- GRCh38:
- Chr11:5227002
- Chr11:5226716
| HBB, LOC106099062, LOC107133510, HBB, LOC106099062, LOC107133510 | E7V, P59R | HEMOGLOBIN ZIGUINCHOR | other
(Dec 12, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr11:5247902
- Chr11:5248232
- GRCh38:
- Chr11:5226672
- Chr11:5227002
| LOC106099062, LOC107133510, HBB, HBB, LOC106099062, LOC107133510 | D74N, E7V | HEMOGLOBIN ZIGUINCHOR | other
(Dec 12, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr11:5248233
- Chr11:5247836
- GRCh38:
- Chr11:5227003
- Chr11:5226606
| LOC106099062, LOC107133510, HBB, HBB, LOC106099062, LOC107133510 | E7K, K96E | HEMOGLOBIN ARLINGTON PARK | other
(Dec 12, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr11:5248232
- GRCh38:
- Chr11:5227002
| HBB, LOC106099062, LOC107133510 | E7V | Beta-thalassemia HBB/LCRB, Sickle cell disease and related diseases, Inborn genetic diseases,
Hb SS disease, Fetal hemoglobin quantitative trait locus 1, alpha Thalassemia,
Erythrocytosis, familial, 6, Methemoglobinemia, beta-globin type, beta Thalassemia,
Malaria, susceptibility to, Heinz body anemiaDominant beta-thalassemia,
HBB-Related Disorders, HBB-related condition, not provided,
Sickle cell-hemoglobin C disease, beta Thalassemia, Hb SS disease,
See cases, ...see more | Pathogenic
(Sep 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248233
- GRCh38:
- Chr11:5227003
| LOC106099062, LOC107133510, HBB | E7K | Beta-thalassemia HBB/LCRB, Hb SS disease, Fetal hemoglobin quantitative trait locus 1,
alpha Thalassemia, Erythrocytosis, familial, 6, Methemoglobinemia, beta-globin type,
beta Thalassemia, Malaria, susceptibility to, Heinz body anemia,
Dominant beta-thalassemia, HBB-Related DisordersHBB-related condition,
Hereditary persistence of fetal hemoglobin, Inborn genetic diseases, not specified,
not provided, Sickle cell-hemoglobin C disease, Heinz body anemia,
beta Thalassemia, Hb SS disease, ...see more | Conflicting interpretations of pathogenicity
(Feb 9, 2023) | criteria provided, conflicting interpretations |