| - GRCh37:
- Chr11:5246696
- GRCh38:
- Chr11:5225466
| HBB, LOC107133510, LOC110006319 | | Hb SS disease, Dominant beta-thalassemia, Erythrocytosis, familial, 6,
Hereditary persistence of fetal hemoglobin, alpha Thalassemia, Methemoglobinemia, beta-globin type,
Beta-thalassemia HBB/LCRB, Heinz body anemia, Malaria, susceptibility to,
not specified | Uncertain significance
(Feb 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5246959
- GRCh38:
- Chr11:5225729
| HBB, LOC107133510, LOC110006319 | | not provided, Heinz body anemia, Hb SS disease,
Dominant beta-thalassemia, Erythrocytosis, familial, 6, Malaria, susceptibility to,
alpha Thalassemia, Methemoglobinemia, beta-globin type, Hereditary persistence of fetal hemoglobin,
Beta-thalassemia HBB/LCRB | Uncertain significance
(Jun 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248167
- GRCh38:
- Chr11:5226937
| HBB, LOC106099062, LOC107133510 | | not provided, not specified, Fetal hemoglobin quantitative trait locus 1,
beta Thalassemia, Hemoglobin E, Hb SS disease
| Conflicting interpretations of pathogenicity
(Dec 18, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:5246810
- GRCh38:
- Chr11:5225580
| HBB, LOC107133510, LOC110006319 | | Fetal hemoglobin quantitative trait locus 1, beta Thalassemia, Hemoglobin E,
Hb SS disease | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:5246769
- GRCh38:
- Chr11:5225539
| HBB, LOC107133510, LOC110006319 | | beta Thalassemia, Fetal hemoglobin quantitative trait locus 1, Hemoglobin E,
Hb SS disease | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:5246963
- Chr11:5246968
- GRCh38:
- Chr11:5225733
- Chr11:5225738
| HBB, LOC107133510, LOC110006319, HBB, LOC107133510, LOC110006319 | | beta Thalassemia | Pathogenic
(Apr 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:5246870
- GRCh38:
- Chr11:5225640
| HBB, LOC107133510, LOC110006319 | | Heinz body anemia, alpha Thalassemia, Erythrocytosis, familial, 6,
Methemoglobinemia, beta-globin type, Malaria, susceptibility to, Hb SS disease,
Dominant beta-thalassemia, Hereditary persistence of fetal hemoglobin, Beta-thalassemia HBB/LCRB,
Inborn genetic diseases, not provided ...see more | Likely benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248524
- GRCh38:
- Chr11:5227294
| HBB, LOC106099062, LOC107133510 | | not provided, Dominant beta-thalassemia, Malaria, susceptibility to,
Heinz body anemia, Hb SS disease, Erythrocytosis, familial, 6,
alpha Thalassemia, Methemoglobinemia, beta-globin type, Hereditary persistence of fetal hemoglobin,
Beta-thalassemia HBB/LCRB | Benign/Likely benign
(Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5247953
- GRCh38:
- Chr11:5226723
| HBB, LOC106099062, LOC107133510 | G57S | not provided, Heinz body anemia, Hb SS disease,
alpha Thalassemia, Methemoglobinemia, beta-globin type, Erythrocytosis, familial, 6,
Hereditary persistence of fetal hemoglobin, Malaria, susceptibility to, Dominant beta-thalassemia,
Beta-thalassemia HBB/LCRB, not specified ...see more | Uncertain significance
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5246963
- GRCh38:
- Chr11:5225733
| HBB, LOC107133510, LOC110006319 | | not provided, Hb SS disease, beta Thalassemia,
not specified | Conflicting interpretations of pathogenicity
(Apr 6, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:5248351
- GRCh38:
- Chr11:5227121
| HBB, LOC106099062, LOC107133510 | | Heinz body anemia, alpha Thalassemia, Methemoglobinemia, beta-globin type,
Erythrocytosis, familial, 6, Hb SS disease, Malaria, susceptibility to,
Hereditary persistence of fetal hemoglobin, Beta-thalassemia HBB/LCRB, Dominant beta-thalassemia,
not provided, not specified ...see more | Uncertain significance
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5246766
- GRCh38:
- Chr11:5225536
| HBB, LOC107133510, LOC110006319 | | Heinz body anemia, alpha Thalassemia, Methemoglobinemia, beta-globin type,
Erythrocytosis, familial, 6, Hb SS disease, Malaria, susceptibility to,
Hereditary persistence of fetal hemoglobin, Beta-thalassemia HBB/LCRB, Dominant beta-thalassemia,
not provided, not specified ...see more | Uncertain significance
(Feb 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - 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:
- Chr11:5248218
- Chr11:5246908
- GRCh38:
- Chr11:5226988
- Chr11:5225678
| HBB, LOC106099062, LOC107133510, LOC107133510, LOC110006319, HBB | V12I, E122K | HEMOGLOBIN O (TIBESTI) | other
(Dec 12, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr11:5246908
- Chr11:5248223
- GRCh38:
- Chr11:5225678
- Chr11:5226993
| HBB, LOC107133510, LOC110006319, LOC106099062, LOC107133510, HBB | E122Q, S10Y | HEMOGLOBIN D (AGRI) | other
(Dec 12, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr11:5246908
- Chr11:5247842
- GRCh38:
- Chr11:5225678
- Chr11:5226612
| HBB, LOC107133510, LOC110006319, HBB, LOC106099062, LOC107133510 | E122Q, C94R | HEMOGLOBIN CLEVELAND | other
(Dec 12, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr11:5246908
- Chr11:5248173
- GRCh38:
- Chr11:5225678
- Chr11:5226943
| HBB, LOC107133510, LOC110006319, HBB, LOC106099062, LOC107133510 | E122Q, E27K | HEMOGLOBIN T (CAMBODIA) | other
(Jul 20, 2016) | 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, LOC107133510, HBB, LOC106099062 | 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
| HBB, LOC106099062, LOC107133510, 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
| HBB, LOC106099062, LOC107133510, HBB, LOC106099062, LOC107133510 | E7K, K96E | HEMOGLOBIN ARLINGTON PARK | other
(Dec 12, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr11:5247828
- GRCh38:
- Chr11:5226598
| HBB, LOC106099062, LOC107133510 | | Inborn genetic diseases, beta Thalassemia, not provided,
Fetal hemoglobin quantitative trait locus 1, Hemoglobin E, Hb SS disease,
not specified | Conflicting interpretations of pathogenicity
(Dec 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:5247876
- GRCh38:
- Chr11:5226646
| LOC106099062, LOC107133510, HBB | | not specified, Fetal hemoglobin quantitative trait locus 1, beta Thalassemia,
not provided, Hemoglobin E, Hb SS disease
| Conflicting interpretations of pathogenicity
(Sep 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:5247848
- GRCh38:
- Chr11:5226618
| HBB, LOC106099062, LOC107133510 | | beta Thalassemia, not provided, Fetal hemoglobin quantitative trait locus 1,
Hemoglobin E, Hb SS disease, not specified
| Conflicting interpretations of pathogenicity
(Sep 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:5247999
- GRCh38:
- Chr11:5226769
| LOC107133510, HBB, LOC106099062 | R41S | not provided, Erythrocytosis, familial, 6, Heinz body anemia,
alpha Thalassemia, Dominant beta-thalassemia, Methemoglobinemia, beta-globin type,
Hb SS disease, Malaria, susceptibility to, Hereditary persistence of fetal hemoglobin,
Beta-thalassemia HBB/LCRB | Uncertain significance
(Aug 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248389
- GRCh38:
- Chr11:5227159
| HBB, LOC106099062, LOC107133510 | | not provided, Dominant beta-thalassemia, Fetal hemoglobin quantitative trait locus 1,
Erythrocytosis, familial, 6, Malaria, susceptibility to, Heinz body anemia,
Hb SS disease, beta Thalassemia, alpha Thalassemia,
Methemoglobinemia, beta-globin type, Hemoglobinopathy ...see more | Pathogenic/Likely pathogenic
(Sep 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5246775
- GRCh38:
- Chr11:5225545
| HBB, LOC107133510, LOC110006319 | | Fetal hemoglobin quantitative trait locus 1, Hemoglobin E, Hb SS disease,
beta Thalassemia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:5246772
- GRCh38:
- Chr11:5225542
| HBB, LOC107133510, LOC110006319 | | Hemoglobin E, Fetal hemoglobin quantitative trait locus 1, Hb SS disease,
beta Thalassemia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:5248243
- GRCh38:
- Chr11:5227013
| HBB, LOC106099062, LOC107133510 | | Inborn genetic diseases, not specified, not provided,
Fetal hemoglobin quantitative trait locus 1, Hemoglobin E, Hb SS disease,
beta Thalassemia, Dominant beta-thalassemia, Erythrocytosis, familial, 6,
Heinz body anemia, alpha ThalassemiaMalaria, susceptibility to,
Methemoglobinemia, beta-globin type, Hereditary persistence of fetal hemoglobin, Beta-thalassemia HBB/LCRB,
Hb SS disease, ...see more | Benign
(Nov 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248158
- GRCh38:
- Chr11:5226928
| HBB, LOC106099062, LOC107133510 | | not provided, beta Thalassemia, Beta-thalassemia HBB/LCRB,
Methemoglobinemia, beta-globin type, Heinz body anemia, Dominant beta-thalassemia,
Hereditary persistence of fetal hemoglobin, Erythrocytosis, familial, 6, Hb SS disease,
Malaria, susceptibility to, alpha Thalassemia ...see more | Pathogenic
(Aug 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5246718
- GRCh38:
- Chr11:5225488
| HBB, LOC107133510, LOC110006319 | | not provided, beta Thalassemia, Hb SS disease
| Pathogenic
(Oct 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5246870
- GRCh38:
- Chr11:5225640
| HBB, LOC107133510, LOC110006319 | | Inborn genetic diseases, not provided, Fetal hemoglobin quantitative trait locus 1,
Hb SS disease, beta Thalassemia, Hemoglobin E
| Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:5246948
- GRCh38:
- Chr11:5225718
| HBB, LOC107133510, LOC110006319 | | not specified, not provided, Fetal hemoglobin quantitative trait locus 1,
beta Thalassemia, Hemoglobin E, Hb SS disease
| Conflicting interpretations of pathogenicity
(Oct 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:5248224-5248225
- GRCh38:
- Chr11:5226994-5226995
| HBB, LOC106099062, LOC107133510 | S10fs | Beta-thalassemia HBB/LCRB, HBB-Related Disorders, not provided,
Hb SS disease, beta Thalassemia, Beta-thalassemia HBB/LCRB,
Methemoglobinemia, beta-globin type, Heinz body anemia, Dominant beta-thalassemia,
Hereditary persistence of fetal hemoglobin, Erythrocytosis, familial, 6Hb SS disease,
Malaria, susceptibility to, alpha Thalassemia, ...see more | Pathogenic
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5247918-5247919
- GRCh38:
- Chr11:5226688-5226689
| HBB, LOC106099062, LOC107133510 | V68fs | not provided, beta Thalassemia, Beta-thalassemia HBB/LCRB,
Methemoglobinemia, beta-globin type, Heinz body anemia, Dominant beta-thalassemia,
Hereditary persistence of fetal hemoglobin, Erythrocytosis, familial, 6, Hb SS disease,
Malaria, susceptibility to, alpha Thalassemia ...see more | Pathogenic/Likely pathogenic
(Nov 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248282
- GRCh38:
- Chr11:5227052
| HBB, LOC106099062, LOC107133510 | | not specified, not provided, Dominant beta-thalassemia,
Fetal hemoglobin quantitative trait locus 1, beta Thalassemia, Hemoglobin E,
Hb SS disease | Conflicting interpretations of pathogenicity
(Aug 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:5248388
- GRCh38:
- Chr11:5227158
| HBB, LOC106099062, LOC107133510 | | not provided, Beta thalassemia intermedia, Hb SS disease
| Pathogenic
(Jun 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248388
- GRCh38:
- Chr11:5227158
| HBB, LOC106099062, LOC107133510 | | Methemoglobinemia, beta-globin type, Fetal hemoglobin quantitative trait locus 1, Heinz body anemia,
Dominant beta-thalassemia, Erythrocytosis, familial, 6, Hb SS disease,
beta Thalassemia, Malaria, susceptibility to, alpha Thalassemia,
not provided, beta ThalassemiaBeta thalassemia intermedia,
Beta-thalassemia HBB/LCRB, Methemoglobinemia, beta-globin type, Heinz body anemia,
Dominant beta-thalassemia, Hereditary persistence of fetal hemoglobin, Erythrocytosis, familial, 6,
Hb SS disease, Malaria, susceptibility to, alpha Thalassemia,
...see more | Pathogenic/Likely pathogenic
(Sep 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248357
- GRCh38:
- Chr11:5227127
| HBB, LOC106099062, LOC107133510 | | Beta-thalassemia HBB/LCRB, not specified, not provided,
Hb SS disease | Uncertain significance
(Jul 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5246958
- GRCh38:
- Chr11:5225728
| HBB, LOC107133510, LOC110006319 | | not provided, beta Thalassemia, Hb SS disease,
Beta-thalassemia HBB/LCRB, Methemoglobinemia, beta-globin type, Heinz body anemia,
Dominant beta-thalassemia, Hereditary persistence of fetal hemoglobin, Erythrocytosis, familial, 6,
Hb SS disease, Malaria, susceptibility toalpha Thalassemia,
...see more | Pathogenic
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5247917
- GRCh38:
- Chr11:5226687
| HBB, LOC106099062, LOC107133510 | L69F | not provided, Beta-thalassemia HBB/LCRB, Methemoglobinemia, beta-globin type,
Heinz body anemia, Dominant beta-thalassemia, Hereditary persistence of fetal hemoglobin,
Erythrocytosis, familial, 6, Hb SS disease, Malaria, susceptibility to,
alpha Thalassemia | Pathogenic/Likely pathogenic
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5246901
- GRCh38:
- Chr11:5225671
| HBB, LOC107133510, LOC110006319 | T124N | not specified, beta Thalassemia, Beta-thalassemia HBB/LCRB,
Methemoglobinemia, beta-globin type, Malaria, susceptibility to, alpha Thalassemia,
Heinz body anemia, Hereditary persistence of fetal hemoglobin, Dominant beta-thalassemia,
Erythrocytosis, familial, 6, Hb SS disease ...see more | Uncertain significance
(Jun 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5247860
- GRCh38:
- Chr11:5226630
| HBB, LOC106099062, LOC107133510 | T88P | not specified, beta Thalassemia, Beta-thalassemia HBB/LCRB,
Methemoglobinemia, beta-globin type, Malaria, susceptibility to, alpha Thalassemia,
Heinz body anemia, Hereditary persistence of fetal hemoglobin, Dominant beta-thalassemia,
Erythrocytosis, familial, 6, Hb SS disease ...see more | Benign/Likely benign
(Jun 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248329
- GRCh38:
- Chr11:5227099
| HBB, LOC106099062, LOC107133510 | | not provided, beta Thalassemia, Hb SS disease
| Pathogenic/Likely pathogenic
(Sep 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248329
- GRCh38:
- Chr11:5227099
| LOC106099062, HBB, LOC107133510 | | not provided, beta Thalassemia, Hb SS disease,
Beta-thalassemia HBB/LCRB, Methemoglobinemia, beta-globin type, Heinz body anemia,
Dominant beta-thalassemia, Hereditary persistence of fetal hemoglobin, Erythrocytosis, familial, 6,
Hb SS disease, Malaria, susceptibility toalpha Thalassemia,
...see more | Pathogenic
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248330
- GRCh38:
- Chr11:5227100
| HBB, LOC106099062, LOC107133510 | | Inborn genetic diseases, not provided, Heinz body anemia,
beta Thalassemia, Beta-thalassemia HBB/LCRB, Methemoglobinemia, beta-globin type,
Heinz body anemia, Dominant beta-thalassemia, Hereditary persistence of fetal hemoglobin,
Erythrocytosis, familial, 6, Hb SS diseaseMalaria, susceptibility to,
alpha Thalassemia, ...see more | Pathogenic
(Nov 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248388
- GRCh38:
- Chr11:5227158
| HBB, LOC106099062, LOC107133510 | | not provided, beta Thalassemia, Beta thalassemia intermedia,
Beta-thalassemia HBB/LCRB, Methemoglobinemia, beta-globin type, Heinz body anemia,
Dominant beta-thalassemia, Hereditary persistence of fetal hemoglobin, Erythrocytosis, familial, 6,
Hb SS disease, Malaria, susceptibility toalpha Thalassemia,
...see more | Pathogenic/Likely pathogenic
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248402
- GRCh38:
- Chr11:5227172
| LOC107133510, HBB, LOC106099062 | | not provided, beta Thalassemia, Beta-thalassemia HBB/LCRB,
Methemoglobinemia, beta-globin type, Heinz body anemia, Dominant beta-thalassemia,
Hereditary persistence of fetal hemoglobin, Erythrocytosis, familial, 6, Hb SS disease,
Malaria, susceptibility to, alpha Thalassemia ...see more | Pathogenic
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248177
- GRCh38:
- Chr11:5226947
| HBB, LOC106099062, LOC107133510 | | not provided, Hb SS disease, beta Thalassemia,
Beta-thalassemia HBB/LCRB, Methemoglobinemia, beta-globin type, Heinz body anemia,
Dominant beta-thalassemia, Hereditary persistence of fetal hemoglobin, Erythrocytosis, familial, 6,
Hb SS disease, Malaria, susceptibility toalpha Thalassemia,
...see more | Pathogenic/Likely pathogenic
(Jan 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5247153
- GRCh38:
- Chr11:5225923
| LOC107133510, HBB, LOC110006319 | | not provided, Beta-thalassemia major, beta Thalassemia,
Hb SS disease | Pathogenic
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5247062
- GRCh38:
- Chr11:5225832
| HBB, LOC107133510, LOC110006319 | | Beta-thalassemia HBB/LCRB, not provided, Dominant beta-thalassemia,
Hb SS disease, beta Thalassemia, Beta-thalassemia HBB/LCRB,
Methemoglobinemia, beta-globin type, Heinz body anemia, Dominant beta-thalassemia,
Hereditary persistence of fetal hemoglobin, Erythrocytosis, familial, 6Hb SS disease,
Malaria, susceptibility to, alpha Thalassemia, ...see more | Pathogenic
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248050
- GRCh38:
- Chr11:5226820
| HBB, LOC106099062, LOC107133510 | | Inborn genetic diseases, Methemoglobinemia, beta-globin type, Fetal hemoglobin quantitative trait locus 1,
Heinz body anemia, Dominant beta-thalassemia, Erythrocytosis, familial, 6,
Hb SS disease, beta Thalassemia, Malaria, susceptibility to,
alpha Thalassemia, Beta-thalassemia HBB/LCRBnot provided,
Beta-thalassemia major, Fetal hemoglobin quantitative trait locus 1, beta Thalassemia,
Hb SS disease, ...see more | Pathogenic/Likely pathogenic
(May 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5246959
- GRCh38:
- Chr11:5225729
| HBB, LOC107133510, LOC110006319 | | not provided, Beta thalassemia intermedia, Beta-thalassemia HBB/LCRB,
Methemoglobinemia, beta-globin type, Heinz body anemia, Dominant beta-thalassemia,
Hereditary persistence of fetal hemoglobin, Erythrocytosis, familial, 6, Hb SS disease,
Malaria, susceptibility to, alpha Thalassemia ...see more | Pathogenic/Likely pathogenic
(Jul 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248154
- GRCh38:
- Chr11:5226924
| HBB, LOC106099062, LOC107133510 | | Inborn genetic diseases, Methemoglobinemia, beta-globin type, Fetal hemoglobin quantitative trait locus 1,
Heinz body anemia, Dominant beta-thalassemia, Erythrocytosis, familial, 6,
Hb SS disease, beta Thalassemia, Malaria, susceptibility to,
alpha Thalassemia, not providedFetal hemoglobin quantitative trait locus 1,
Heinz body anemia, beta Thalassemia, Hb SS disease,
Hemoglobin E, ...see more | Conflicting interpretations of pathogenicity
(Oct 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:5248155
- GRCh38:
- Chr11:5226925
| LOC106099062, LOC107133510, HBB | | Beta-thalassemia HBB/LCRB, Inborn genetic diseases, Methemoglobinemia, beta-globin type,
Fetal hemoglobin quantitative trait locus 1, Heinz body anemia, Dominant beta-thalassemia,
Erythrocytosis, familial, 6, Hb SS disease, beta Thalassemia,
Malaria, susceptibility to, alpha Thalassemianot provided,
Beta-thalassemia major, Hb SS disease, beta Thalassemia,
...see more | Pathogenic
(Dec 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5247806
- GRCh38:
- Chr11:5226576
| HBB, LOC106099062, LOC107133510, LOC110006319 | | Beta-thalassemia HBB/LCRB, not specified, not provided,
Dominant beta-thalassemia, Hb SS disease, beta Thalassemia,
Beta-thalassemia HBB/LCRB, Methemoglobinemia, beta-globin type, Heinz body anemia,
Dominant beta-thalassemia, Hereditary persistence of fetal hemoglobinErythrocytosis, familial, 6,
Hb SS disease, Malaria, susceptibility to, alpha Thalassemia,
...see more | Pathogenic
(Nov 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248159
- GRCh38:
- Chr11:5226929
| HBB, LOC106099062, LOC107133510 | | Inborn genetic diseases, not provided, beta Thalassemia,
Hb SS disease, Beta-thalassemia HBB/LCRB, Methemoglobinemia, beta-globin type,
Heinz body anemia, Dominant beta-thalassemia, Hereditary persistence of fetal hemoglobin,
Erythrocytosis, familial, 6, Hb SS diseaseMalaria, susceptibility to,
alpha Thalassemia, ...see more | Pathogenic/Likely pathogenic
(Nov 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248159
- GRCh38:
- Chr11:5226929
| LOC107133510, HBB, LOC106099062 | | Beta-thalassemia HBB/LCRB, not provided, Fetal hemoglobin quantitative trait locus 1,
beta Thalassemia, Hb SS disease, Beta-thalassemia HBB/LCRB,
Methemoglobinemia, beta-globin type, Heinz body anemia, Dominant beta-thalassemia,
Hereditary persistence of fetal hemoglobin, Erythrocytosis, familial, 6Hb SS disease,
Malaria, susceptibility to, alpha Thalassemia, ...see more | Pathogenic
(May 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248250
- GRCh38:
- Chr11:5227020
| HBB, LOC106099062, LOC107133510 | M1R | not provided, beta Thalassemia, Hb SS disease
| Pathogenic
(Oct 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248166-5248167
- GRCh38:
- Chr11:5226936-5226937
| HBB, LOC106099062, LOC107133510 | L29fs | Hemoglobinopathy, not provided, beta Thalassemia,
Hb SS disease | Pathogenic/Likely pathogenic
(Sep 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248010
- GRCh38:
- Chr11:5226780
| LOC106099062, LOC107133510, HBB | W38fs | Hemoglobinopathy, not provided, beta Thalassemia,
Hb SS disease, Beta-thalassemia HBB/LCRB, Methemoglobinemia, beta-globin type,
Heinz body anemia, Dominant beta-thalassemia, Hereditary persistence of fetal hemoglobin,
Erythrocytosis, familial, 6, Hb SS diseaseMalaria, susceptibility to,
alpha Thalassemia, ...see more | Pathogenic
(Aug 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248234-5248235
- GRCh38:
- Chr11:5227004-5227005
| HBB, LOC106099062, LOC107133510 | P6fs | not provided, beta Thalassemia, Hb SS disease,
Beta-thalassemia HBB/LCRB, Methemoglobinemia, beta-globin type, Heinz body anemia,
Dominant beta-thalassemia, Hereditary persistence of fetal hemoglobin, Erythrocytosis, familial, 6,
Hb SS disease, Malaria, susceptibility toalpha Thalassemia,
...see more | Pathogenic
(Jul 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248232
- GRCh38:
- Chr11:5227002
| HBB, LOC106099062, LOC107133510 | E7fs | not provided, beta Thalassemia, Hb SS disease,
Beta-thalassemia HBB/LCRB, Methemoglobinemia, beta-globin type, Heinz body anemia,
Dominant beta-thalassemia, Hereditary persistence of fetal hemoglobin, Erythrocytosis, familial, 6,
Hb SS disease, Malaria, susceptibility toalpha Thalassemia,
...see more | Pathogenic
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5247993-5247996
- GRCh38:
- Chr11:5226763-5226766
| LOC106099062, LOC107133510, HBB | F42fs | Beta-thalassemia HBB/LCRB, Inborn genetic diseases, not provided,
Fetal hemoglobin quantitative trait locus 1, beta Thalassemia, Hb SS disease,
Beta-thalassemia HBB/LCRB, Methemoglobinemia, beta-globin type, Heinz body anemia,
Dominant beta-thalassemia, Hereditary persistence of fetal hemoglobinErythrocytosis, familial, 6,
Hb SS disease, Malaria, susceptibility to, alpha Thalassemia,
...see more | Pathogenic/Likely pathogenic
(Nov 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5247987
- GRCh38:
- Chr11:5226757
| HBB, LOC106099062, LOC107133510 | F46fs | not provided, Dominant beta-thalassemia, beta Thalassemia,
Beta-thalassemia HBB/LCRB, Methemoglobinemia, beta-globin type, Heinz body anemia,
Dominant beta-thalassemia, Hereditary persistence of fetal hemoglobin, Erythrocytosis, familial, 6,
Hb SS disease, Malaria, susceptibility toalpha Thalassemia,
...see more | Pathogenic/Likely pathogenic
(Sep 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248201
- GRCh38:
- Chr11:5226971
| HBB, LOC106099062, LOC107133510 | K18fs | Beta-thalassemia HBB/LCRB, Inborn genetic diseases, Hemoglobinopathy,
not provided, beta Thalassemia, Beta-thalassemia HBB/LCRB,
Methemoglobinemia, beta-globin type, Heinz body anemia, Dominant beta-thalassemia,
Hereditary persistence of fetal hemoglobin, Erythrocytosis, familial, 6Hb SS disease,
Malaria, susceptibility to, alpha Thalassemia, ...see more | Pathogenic
(Jun 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248226-5248227
- GRCh38:
- Chr11:5226996-5226997
| HBB, LOC106099062, LOC107133510 | K9fs | Beta-thalassemia HBB/LCRB, not provided, beta Thalassemia,
Hb SS disease | Pathogenic
(Feb 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5247938
- GRCh38:
- Chr11:5226708
| LOC106099062, LOC107133510, HBB | K62* | not provided, beta Thalassemia, Beta-thalassemia HBB/LCRB,
Methemoglobinemia, beta-globin type, Malaria, susceptibility to, alpha Thalassemia,
Heinz body anemia, Hereditary persistence of fetal hemoglobin, Dominant beta-thalassemia,
Erythrocytosis, familial, 6, Hb SS disease ...see more | Pathogenic
(Jan 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5247992
- GRCh38:
- Chr11:5226762
| HBB, LOC106099062, LOC107133510 | E44* | Hemoglobinopathy, not provided, beta Thalassemia,
Hb SS disease | Pathogenic
(Feb 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5246908
- GRCh38:
- Chr11:5225678
| LOC107133510, LOC110006319, HBB | E122* | not provided, Dominant beta-thalassemia, Hb SS disease
| Pathogenic
(May 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248205
- GRCh38:
- Chr11:5226975
| HBB, LOC106099062, LOC107133510 | W16* | not provided, beta Thalassemia, Hb SS disease
| Pathogenic
(Feb 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248004
- GRCh38:
- Chr11:5226774
| LOC106099062, LOC107133510, HBB | Q40* | Beta-thalassemia HBB/LCRB, Inborn genetic diseases, not provided,
Heinz body anemia, alpha Thalassemia, beta Thalassemia,
Hb SS disease, Beta-thalassemia HBB/LCRB, Methemoglobinemia, beta-globin type,
Heinz body anemia, Dominant beta-thalassemiaHereditary persistence of fetal hemoglobin,
Erythrocytosis, familial, 6, Hb SS disease, Malaria, susceptibility to,
alpha Thalassemia, ...see more | Pathogenic
(May 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248200
- GRCh38:
- Chr11:5226970
| HBB, LOC106099062, LOC107133510 | K18* | Beta-thalassemia HBB/LCRB, Methemoglobinemia, beta-globin type, Fetal hemoglobin quantitative trait locus 1,
Heinz body anemia, Dominant beta-thalassemia, Erythrocytosis, familial, 6,
Hb SS disease, beta Thalassemia, Malaria, susceptibility to,
alpha Thalassemia, not providedbeta Thalassemia,
Hb SS disease, ...see more | Pathogenic
(Dec 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5246940
- GRCh38:
- Chr11:5225710
| HBB, LOC107133510, LOC110006319 | L111P | not provided, Hb SS disease, beta Thalassemia
| Pathogenic
(Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248208
- GRCh38:
- Chr11:5226978
| HBB, LOC106099062, LOC107133510 | L15P | not specified, not provided, Beta-thalassemia HBB/LCRB,
Methemoglobinemia, beta-globin type, Malaria, susceptibility to, alpha Thalassemia,
Heinz body anemia, Hereditary persistence of fetal hemoglobin, Dominant beta-thalassemia,
Erythrocytosis, familial, 6, Hb SS disease ...see more | Uncertain significance
(Apr 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248232
- GRCh38:
- Chr11:5227002
| HBB, LOC106099062, LOC107133510 | E7V | Beta-thalassemia HBB/LCRB, Sickle cell disease and related diseases, Inborn genetic diseases,
Methemoglobinemia, beta-globin type, Fetal hemoglobin quantitative trait locus 1, Heinz body anemia,
Dominant beta-thalassemia, Erythrocytosis, familial, 6, Hb SS disease,
beta Thalassemia, Malaria, susceptibility toalpha Thalassemia,
HBB-Related Disorders, not provided, Sickle cell-hemoglobin C disease,
beta Thalassemia, Hb SS disease, See cases,
...see more | Pathogenic
(May 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248191
- GRCh38:
- Chr11:5226961
| HBB, LOC106099062, LOC107133510 | V21M | not provided, Beta-thalassemia HBB/LCRB, Methemoglobinemia, beta-globin type,
Heinz body anemia, Dominant beta-thalassemia, Hereditary persistence of fetal hemoglobin,
Erythrocytosis, familial, 6, Hb SS disease, Malaria, susceptibility to,
alpha Thalassemia | Pathogenic
(Jan 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5246908
- GRCh38:
- Chr11:5225678
| LOC107133510, LOC110006319, HBB | E122K | Sickle cell-Hemoglobin O Arab disease, not provided, beta Thalassemia,
Hb SS disease, Beta-thalassemia HBB/LCRB, Methemoglobinemia, beta-globin type,
Heinz body anemia, Dominant beta-thalassemia, Hereditary persistence of fetal hemoglobin,
Erythrocytosis, familial, 6, Hb SS diseaseMalaria, susceptibility to,
alpha Thalassemia, ...see more | Pathogenic/Likely pathogenic
(Oct 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5246883
- GRCh38:
- Chr11:5225653
| HBB, LOC107133510, LOC110006319 | A130V | Hemoglobinopathy, not provided, Hb SS disease
| Conflicting interpretations of pathogenicity
(May 9, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:5248170
- GRCh38:
- Chr11:5226940
| HBB, LOC106099062, LOC107133510 | A28S | Hemoglobinopathy, not provided, beta Thalassemia,
Hb SS disease | Pathogenic/Likely pathogenic
(Mar 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248160
- GRCh38:
- Chr11:5226930
| HBB, LOC106099062, LOC107133510 | R31T | not provided, Beta-thalassemia major, beta Thalassemia,
Hb SS disease | Pathogenic
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5246862
- GRCh38:
- Chr11:5225632
| LOC110006319, HBB, LOC107133510 | G137D | Beta-thalassemia HBB/LCRB, Inborn genetic diseases, not specified,
not provided, Hb SS disease, beta Thalassemia
| Conflicting interpretations of pathogenicity
(Aug 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:5248218
- GRCh38:
- Chr11:5226988
| HBB, LOC106099062, LOC107133510 | V12I | not specified, not provided, Fetal hemoglobin quantitative trait locus 1,
beta Thalassemia, Hb SS disease, Hemoglobin E,
Beta-thalassemia HBB/LCRB, Methemoglobinemia, beta-globin type, Heinz body anemia,
Dominant beta-thalassemia, Hereditary persistence of fetal hemoglobinErythrocytosis, familial, 6,
Hb SS disease, Malaria, susceptibility to, alpha Thalassemia,
...see more | Uncertain significance
(Mar 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248173
- GRCh38:
- Chr11:5226943
| HBB, LOC106099062, LOC107133510 | E27K | Beta-thalassemia HBB/LCRB, Hemoglobin E disease, Inborn genetic diseases,
Methemoglobinemia, beta-globin type, Fetal hemoglobin quantitative trait locus 1, Heinz body anemia,
Dominant beta-thalassemia, Erythrocytosis, familial, 6, Hb SS disease,
beta Thalassemia, Malaria, susceptibility toalpha Thalassemia,
not specified, not provided, beta Thalassemia,
Hb SS disease, Anemia, ...see more | Pathogenic
(Sep 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5246908
- GRCh38:
- Chr11:5225678
| HBB, LOC107133510, LOC110006319 | E122Q | HBB-Related Disorders, Hemoglobin D disease, not provided,
beta Thalassemia, Heinz body anemia, Fetal hemoglobin quantitative trait locus 1,
Hemoglobin E, Hb SS disease | Conflicting interpretations of pathogenicity
(Oct 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:5248184
- GRCh38:
- Chr11:5226954
| HBB, LOC106099062, LOC107133510 | E23V | not provided, Beta-thalassemia HBB/LCRB, Methemoglobinemia, beta-globin type,
Malaria, susceptibility to, alpha Thalassemia, Heinz body anemia,
Hereditary persistence of fetal hemoglobin, Dominant beta-thalassemia, Erythrocytosis, familial, 6,
Hb SS disease | Uncertain significance
(Jul 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5247914
- GRCh38:
- Chr11:5226684
| HBB, LOC106099062, LOC107133510 | G70S | Methemoglobinemia, beta-globin type, Malaria, susceptibility to, alpha Thalassemia,
Heinz body anemia, Dominant beta-thalassemia, Fetal hemoglobin quantitative trait locus 1,
Erythrocytosis, familial, 6, Hb SS disease, beta Thalassemia,
not specified, not providedFetal hemoglobin quantitative trait locus 1,
beta Thalassemia, Hb SS disease, Hemoglobin E,
...see more | Conflicting interpretations of pathogenicity
(Jun 7, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:5248233
- GRCh38:
- Chr11:5227003
| HBB, LOC106099062, LOC107133510 | E7K | Beta-thalassemia HBB/LCRB, Hereditary persistence of fetal hemoglobin, not provided,
not specified, Sickle cell-hemoglobin C disease, Heinz body anemia,
beta Thalassemia, Hb SS disease, Methemoglobinemia, beta-globin type,
alpha Thalassemia, Malaria, susceptibility toFetal hemoglobin quantitative trait locus 1,
Heinz body anemia, Hb SS disease, Dominant beta-thalassemia,
Erythrocytosis, familial, 6, beta Thalassemia, Inborn genetic diseases,
...see more | Conflicting interpretations of pathogenicity
(Feb 9, 2023) | criteria provided, conflicting interpretations |