| - GRCh38:
- Chr7:73304277-74727414
| LOC108254673, LOC111413044, LOC113748407, MIR10525, MIR4284, LOC113748408, LOC113748409, LOC113748410, LOC123956160, LOC123956161, LOC123956162, LOC123956164, LOC126860072, LOC126860073, LOC113748411, LOC121175345, LOC121175346, LOC121740686, LOC123956159, LOC123956163, LOC126860074, METTL27, ABHD11, ABHD11-AS1, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, ELN-AS1, FKBP6, FZD9, GTF2I, GTF2I-AS1, GTF2IRD1, LAT2, LIMK1, MIR590, MLXIPL, NSUN5, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D | | Williams syndrome, Hb SS disease | Pathogenic
(Nov 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:5246696
- GRCh38:
- Chr11:5225466
| HBB, LOC110006319, LOC107133510 | | Dominant beta-thalassemia, Hb SS disease, Methemoglobinemia, beta-globin type,
Erythrocytosis, familial, 6, alpha Thalassemia, Malaria, susceptibility to,
Heinz body anemia, Hereditary persistence of fetal hemoglobin, Beta-thalassemia HBB/LCRB,
not specified | Uncertain significance
(Feb 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5246959
- GRCh38:
- Chr11:5225729
| HBB, LOC110006319, LOC107133510 | | not provided, alpha Thalassemia, Methemoglobinemia, beta-globin type,
Hereditary persistence of fetal hemoglobin, Beta-thalassemia HBB/LCRB, Hb SS disease,
Heinz body anemia, Malaria, susceptibility to, Dominant beta-thalassemia,
Erythrocytosis, familial, 6 | Uncertain significance
(Jun 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248167
- GRCh38:
- Chr11:5226937
| HBB, LOC107133510, LOC106099062 | | Fetal hemoglobin quantitative trait locus 1, Hemoglobin E, Hb SS disease,
beta Thalassemia, not provided, not specified
| Conflicting interpretations of pathogenicity
(Dec 18, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:5246810
- GRCh38:
- Chr11:5225580
| LOC107133510, LOC110006319, HBB | | Hemoglobin E, Hb SS disease, beta Thalassemia,
Fetal hemoglobin quantitative trait locus 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:5246769
- GRCh38:
- Chr11:5225539
| LOC107133510, LOC110006319, HBB | | Fetal hemoglobin quantitative trait locus 1, Hemoglobin E, Hb SS disease,
beta Thalassemia | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:5246963
- Chr11:5246968
- GRCh38:
- Chr11:5225733
- Chr11:5225738
| LOC110006319, LOC107133510, HBB, LOC110006319, LOC107133510, HBB | | beta Thalassemia | Pathogenic
(Mar 5, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:5246870
- GRCh38:
- Chr11:5225640
| LOC107133510, LOC110006319, HBB | | not provided, Erythrocytosis, familial, 6, Heinz body anemia,
Beta-thalassemia HBB/LCRB, Hb SS disease, Malaria, susceptibility to,
Dominant beta-thalassemia, alpha Thalassemia, Methemoglobinemia, beta-globin type,
Hereditary persistence of fetal hemoglobin, Inborn genetic diseases ...see more | Likely benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248524
- GRCh38:
- Chr11:5227294
| HBB, LOC107133510, LOC106099062 | | not provided, Malaria, susceptibility to, Hb SS disease,
Dominant beta-thalassemia, Erythrocytosis, familial, 6, Heinz body anemia,
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
| LOC107133510, LOC106099062, HBB | G57S | not specified, Malaria, susceptibility to, Dominant beta-thalassemia,
Erythrocytosis, familial, 6, Heinz body anemia, alpha Thalassemia,
Methemoglobinemia, beta-globin type, Hb SS disease, Hereditary persistence of fetal hemoglobin,
Beta-thalassemia HBB/LCRB, not provided ...see more | Uncertain significance
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5246963
- GRCh38:
- Chr11:5225733
| LOC110006319, LOC107133510, HBB | | beta Thalassemia, Hb SS disease, not specified,
not provided | Conflicting interpretations of pathogenicity
(Apr 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:5248351
- GRCh38:
- Chr11:5227121
| HBB, LOC106099062, LOC107133510 | | not specified, Erythrocytosis, familial, 6, Dominant beta-thalassemia,
Heinz body anemia, Malaria, susceptibility to, alpha Thalassemia,
Hb SS disease, Methemoglobinemia, beta-globin type, Hereditary persistence of fetal hemoglobin,
Beta-thalassemia HBB/LCRB, not provided ...see more | Uncertain significance
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5246766
- GRCh38:
- Chr11:5225536
| HBB, LOC107133510, LOC110006319 | | not specified, Hb SS disease, Heinz body anemia,
Malaria, susceptibility to, alpha Thalassemia, Methemoglobinemia, beta-globin type,
Erythrocytosis, familial, 6, Hereditary persistence of fetal hemoglobin, Beta-thalassemia HBB/LCRB,
Dominant beta-thalassemia, not provided ...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
| LOC106099062, LOC107133510, HBB, 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, HBB, LOC107133510, LOC110006319 | V12I, E122K | HEMOGLOBIN O (TIBESTI) | other
(Dec 12, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr11:5246908
- Chr11:5248223
- GRCh38:
- Chr11:5225678
- Chr11:5226993
| LOC107133510, LOC110006319, HBB, HBB, LOC106099062, LOC107133510 | E122Q, S10Y | HEMOGLOBIN D (AGRI) | other
(Dec 12, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr11:5246908
- Chr11:5247842
- GRCh38:
- Chr11:5225678
- Chr11:5226612
| LOC107133510, LOC110006319, HBB, 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
| LOC107133510, LOC110006319, HBB, 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, LOC110006319, LOC107133510 | 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
| HBB, LOC107133510, LOC110006319, 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
| 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 | | not provided, Hemoglobin E, Hb SS disease,
Fetal hemoglobin quantitative trait locus 1, not specified, beta Thalassemia
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:5247876
- GRCh38:
- Chr11:5226646
| LOC107133510, LOC106099062, HBB | | Hemoglobin E, not provided, Fetal hemoglobin quantitative trait locus 1,
not specified, beta Thalassemia, Hb SS disease
| Conflicting interpretations of pathogenicity
(Sep 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:5247848
- GRCh38:
- Chr11:5226618
| LOC106099062, LOC107133510, HBB | | not specified, Hemoglobin E, Hb SS disease,
not provided, Fetal hemoglobin quantitative trait locus 1, beta Thalassemia
| Conflicting interpretations of pathogenicity
(Sep 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:5247999
- GRCh38:
- Chr11:5226769
| HBB, LOC106099062, LOC107133510 | R41S | Hb SS disease, Malaria, susceptibility to, Erythrocytosis, familial, 6,
Heinz body anemia, alpha Thalassemia, Methemoglobinemia, beta-globin type,
Dominant beta-thalassemia, Hereditary persistence of fetal hemoglobin, Beta-thalassemia HBB/LCRB,
not provided | Uncertain significance
(Aug 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248389
- GRCh38:
- Chr11:5227159
| HBB, LOC106099062, LOC107133510 | | Hemoglobinopathy, alpha Thalassemia, Dominant beta-thalassemia,
Methemoglobinemia, beta-globin type, Fetal hemoglobin quantitative trait locus 1, Erythrocytosis, familial, 6,
Heinz body anemia, Hb SS disease, Malaria, susceptibility to,
beta Thalassemia, not provided ...see more | Pathogenic/Likely pathogenic
(Sep 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5246775
- GRCh38:
- Chr11:5225545
| LOC110006319, LOC107133510, HBB | | Hemoglobin E, Fetal hemoglobin quantitative trait locus 1, Hb SS disease,
beta Thalassemia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:5246772
- GRCh38:
- Chr11:5225542
| HBB, LOC107133510, LOC110006319 | | beta Thalassemia, Hemoglobin E, Hb SS disease,
Fetal hemoglobin quantitative trait locus 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:5248243
- GRCh38:
- Chr11:5227013
| HBB, LOC106099062, LOC107133510 | | Inborn genetic diseases, not specified, Heinz body anemia,
Hb SS disease, Methemoglobinemia, beta-globin type, Malaria, susceptibility to,
Erythrocytosis, familial, 6, Dominant beta-thalassemia, alpha Thalassemia,
Hereditary persistence of fetal hemoglobin, Beta-thalassemia HBB/LCRBnot provided,
Fetal hemoglobin quantitative trait locus 1, Hemoglobin E, Hb SS disease,
beta Thalassemia, ...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, Erythrocytosis, familial, 6,
Hb SS disease, Beta-thalassemia HBB/LCRB, Hereditary persistence of fetal hemoglobin,
Methemoglobinemia, beta-globin type, Heinz body anemia, Malaria, susceptibility to,
alpha Thalassemia, Dominant beta-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 | | not provided, Hb SS disease, Hemoglobin E,
Fetal hemoglobin quantitative trait locus 1, beta Thalassemia, Inborn genetic diseases
| Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:5246948
- GRCh38:
- Chr11:5225718
| LOC110006319, HBB, LOC107133510 | | not provided, Hemoglobin E, Fetal hemoglobin quantitative trait locus 1,
Hb SS disease, beta Thalassemia, not specified
| Conflicting interpretations of pathogenicity
(Oct 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:5248224-5248225
- GRCh38:
- Chr11:5226994-5226995
| HBB, LOC106099062, LOC107133510 | S10fs | HBB-Related Disorders, not provided, Hb SS disease,
beta Thalassemia, Erythrocytosis, familial, 6, Hb SS disease,
Beta-thalassemia HBB/LCRB, Hereditary persistence of fetal hemoglobin, Methemoglobinemia, beta-globin type,
Heinz body anemia, Malaria, susceptibility toalpha Thalassemia,
Dominant beta-thalassemia, ...see more | Pathogenic
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5247918-5247919
- GRCh38:
- Chr11:5226688-5226689
| HBB, LOC106099062, LOC107133510 | V68fs | not provided, beta Thalassemia, Erythrocytosis, familial, 6,
Hb SS disease, Beta-thalassemia HBB/LCRB, Hereditary persistence of fetal hemoglobin,
Methemoglobinemia, beta-globin type, Heinz body anemia, Malaria, susceptibility to,
alpha Thalassemia, Dominant beta-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, Hb SS disease,
Hemoglobin E, Fetal hemoglobin quantitative trait locus 1, Dominant beta-thalassemia,
beta Thalassemia | Conflicting interpretations of pathogenicity
(Aug 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:5248388
- GRCh38:
- Chr11:5227158
| LOC107133510, HBB, LOC106099062 | | Hemoglobinopathy, not provided, Hb SS disease
| Pathogenic
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248388
- GRCh38:
- Chr11:5227158
| HBB, LOC106099062, LOC107133510 | | not provided, Erythrocytosis, familial, 6, Hb SS disease,
Methemoglobinemia, beta-globin type, Heinz body anemia, Fetal hemoglobin quantitative trait locus 1,
beta Thalassemia, Malaria, susceptibility to, alpha Thalassemia,
Dominant beta-thalassemia, beta ThalassemiaBeta thalassemia intermedia,
Erythrocytosis, familial, 6, Hb SS disease, Beta-thalassemia HBB/LCRB,
Hereditary persistence of fetal hemoglobin, Methemoglobinemia, beta-globin type, Heinz body anemia,
Malaria, susceptibility to, alpha Thalassemia, Dominant beta-thalassemia,
...see more | Pathogenic/Likely pathogenic
(Sep 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248357
- GRCh38:
- Chr11:5227127
| LOC107133510, LOC106099062, HBB | | Beta-thalassemia HBB/LCRB, not provided, not specified,
Hb SS disease | Uncertain significance
(Dec 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5246958
- GRCh38:
- Chr11:5225728
| HBB, LOC107133510, LOC110006319 | | not provided, beta Thalassemia, Hb SS disease,
Erythrocytosis, familial, 6, Hb SS disease, Beta-thalassemia HBB/LCRB,
Hereditary persistence of fetal hemoglobin, Methemoglobinemia, beta-globin type, Heinz body anemia,
Malaria, susceptibility to, alpha ThalassemiaDominant beta-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, Erythrocytosis, familial, 6, Hb SS disease,
Beta-thalassemia HBB/LCRB, Hereditary persistence of fetal hemoglobin, Methemoglobinemia, beta-globin type,
Heinz body anemia, Malaria, susceptibility to, alpha Thalassemia,
Dominant beta-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, Methemoglobinemia, beta-globin type,
Malaria, susceptibility to, alpha Thalassemia, Heinz body anemia,
Beta-thalassemia HBB/LCRB, Hereditary persistence of fetal hemoglobin, Erythrocytosis, familial, 6,
Hb SS disease, Dominant beta-thalassemia ...see more | Uncertain significance
(Apr 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5247860
- GRCh38:
- Chr11:5226630
| HBB, LOC107133510, LOC106099062 | T88P | not specified, beta Thalassemia, Hb SS disease,
Beta-thalassemia HBB/LCRB, Heinz body anemia, Hereditary persistence of fetal hemoglobin,
Malaria, susceptibility to, alpha Thalassemia, Erythrocytosis, familial, 6,
Methemoglobinemia, beta-globin type, Dominant beta-thalassemia ...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
| LOC107133510, HBB, LOC106099062 | | not provided, beta Thalassemia, Hb SS disease,
Erythrocytosis, familial, 6, Hb SS disease, Beta-thalassemia HBB/LCRB,
Hereditary persistence of fetal hemoglobin, Methemoglobinemia, beta-globin type, Heinz body anemia,
Malaria, susceptibility to, alpha ThalassemiaDominant beta-thalassemia,
...see more | Pathogenic
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248330
- GRCh38:
- Chr11:5227100
| HBB, LOC106099062, LOC107133510 | | not provided, Heinz body anemia, beta Thalassemia,
Inborn genetic diseases, Erythrocytosis, familial, 6, Hb SS disease,
Beta-thalassemia HBB/LCRB, Hereditary persistence of fetal hemoglobin, Methemoglobinemia, beta-globin type,
Heinz body anemia, Malaria, susceptibility toalpha Thalassemia,
Dominant beta-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,
Erythrocytosis, familial, 6, Hb SS disease, Beta-thalassemia HBB/LCRB,
Hereditary persistence of fetal hemoglobin, Methemoglobinemia, beta-globin type, Heinz body anemia,
Malaria, susceptibility to, alpha ThalassemiaDominant beta-thalassemia,
...see more | Pathogenic/Likely pathogenic
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248402
- GRCh38:
- Chr11:5227172
| LOC106099062, LOC107133510, HBB | | beta Thalassemia, not provided, Erythrocytosis, familial, 6,
Hb SS disease, Beta-thalassemia HBB/LCRB, Hereditary persistence of fetal hemoglobin,
Methemoglobinemia, beta-globin type, Heinz body anemia, Malaria, susceptibility to,
alpha Thalassemia, Dominant beta-thalassemia ...see more | Pathogenic
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248177
- GRCh38:
- Chr11:5226947
| HBB, LOC106099062, LOC107133510 | | not provided, beta Thalassemia, Hb SS disease,
Erythrocytosis, familial, 6, Hb SS disease, Beta-thalassemia HBB/LCRB,
Hereditary persistence of fetal hemoglobin, Methemoglobinemia, beta-globin type, Heinz body anemia,
Malaria, susceptibility to, alpha ThalassemiaDominant beta-thalassemia,
...see more | Pathogenic/Likely pathogenic
(Jan 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5247153
- GRCh38:
- Chr11:5225923
| HBB, LOC107133510, LOC110006319 | | not provided, beta Thalassemia, Beta-thalassemia major,
Hb SS disease | Pathogenic
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5247062
- GRCh38:
- Chr11:5225832
| LOC107133510, LOC110006319, HBB | | not provided, Dominant beta-thalassemia, beta Thalassemia,
Beta-thalassemia HBB/LCRB, Hb SS disease, Erythrocytosis, familial, 6,
Hb SS disease, Beta-thalassemia HBB/LCRB, Hereditary persistence of fetal hemoglobin,
Methemoglobinemia, beta-globin type, Heinz body anemiaMalaria, susceptibility to,
alpha Thalassemia, Dominant beta-thalassemia, ...see more | Pathogenic
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248050
- GRCh38:
- Chr11:5226820
| HBB, LOC106099062, LOC107133510 | | Erythrocytosis, familial, 6, Hb SS disease, Methemoglobinemia, beta-globin type,
Heinz body anemia, Fetal hemoglobin quantitative trait locus 1, beta Thalassemia,
Malaria, susceptibility to, alpha Thalassemia, Dominant beta-thalassemia,
Inborn genetic diseases, not providedBeta-thalassemia major,
Fetal hemoglobin quantitative trait locus 1, beta Thalassemia, Beta-thalassemia HBB/LCRB,
Hb SS disease, ...see more | Pathogenic/Likely pathogenic
(Dec 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5246959
- GRCh38:
- Chr11:5225729
| HBB, LOC107133510, LOC110006319 | | not provided, Beta thalassemia intermedia, Erythrocytosis, familial, 6,
Hb SS disease, Beta-thalassemia HBB/LCRB, Hereditary persistence of fetal hemoglobin,
Methemoglobinemia, beta-globin type, Heinz body anemia, Malaria, susceptibility to,
alpha Thalassemia, Dominant beta-thalassemia ...see more | Pathogenic/Likely pathogenic
(Nov 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248154
- GRCh38:
- Chr11:5226924
| LOC107133510, HBB, LOC106099062 | | not provided, Erythrocytosis, familial, 6, Hb SS disease,
Methemoglobinemia, beta-globin type, Heinz body anemia, Fetal hemoglobin quantitative trait locus 1,
beta Thalassemia, Malaria, susceptibility to, alpha Thalassemia,
Dominant beta-thalassemia, Inborn genetic diseasesbeta Thalassemia,
Hemoglobin E, Heinz body anemia, Fetal hemoglobin quantitative trait locus 1,
Hb SS disease, ...see more | Conflicting interpretations of pathogenicity
(Oct 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:5248155
- GRCh38:
- Chr11:5226925
| HBB, LOC106099062, LOC107133510 | | Erythrocytosis, familial, 6, Hb SS disease, Methemoglobinemia, beta-globin type,
Heinz body anemia, Fetal hemoglobin quantitative trait locus 1, beta Thalassemia,
Malaria, susceptibility to, alpha Thalassemia, Dominant beta-thalassemia,
not provided, Beta-thalassemia majorHb SS disease,
beta Thalassemia, Beta-thalassemia HBB/LCRB, Inborn genetic diseases,
...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,
beta Thalassemia, Dominant beta-thalassemia, Hb SS disease,
Erythrocytosis, familial, 6, Hb SS disease, Beta-thalassemia HBB/LCRB,
Hereditary persistence of fetal hemoglobin, Methemoglobinemia, beta-globin typeHeinz body anemia,
Malaria, susceptibility to, alpha Thalassemia, Dominant beta-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, Erythrocytosis, familial, 6, Hb SS disease,
Beta-thalassemia HBB/LCRB, Hereditary persistence of fetal hemoglobin, Methemoglobinemia, beta-globin type,
Heinz body anemia, Malaria, susceptibility toalpha Thalassemia,
Dominant beta-thalassemia, ...see more | Pathogenic/Likely pathogenic
(Nov 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248159
- GRCh38:
- Chr11:5226929
| HBB, LOC106099062, LOC107133510 | | Beta-thalassemia HBB/LCRB, not provided, Fetal hemoglobin quantitative trait locus 1,
Hb SS disease, beta Thalassemia, Erythrocytosis, familial, 6,
Hb SS disease, Beta-thalassemia HBB/LCRB, Hereditary persistence of fetal hemoglobin,
Methemoglobinemia, beta-globin type, Heinz body anemiaMalaria, susceptibility to,
alpha Thalassemia, Dominant beta-thalassemia, ...see more | Pathogenic
(Nov 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248250
- GRCh38:
- Chr11:5227020
| LOC107133510, HBB, LOC106099062 | 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 | not provided, Hemoglobinopathy, beta Thalassemia,
Hb SS disease | Pathogenic/Likely pathogenic
(Sep 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248010
- GRCh38:
- Chr11:5226780
| HBB, LOC106099062, LOC107133510 | W38fs | Hemoglobinopathy, not provided, beta Thalassemia,
Hb SS disease, Erythrocytosis, familial, 6, Hb SS disease,
Beta-thalassemia HBB/LCRB, Hereditary persistence of fetal hemoglobin, Methemoglobinemia, beta-globin type,
Heinz body anemia, Malaria, susceptibility toalpha Thalassemia,
Dominant beta-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,
Erythrocytosis, familial, 6, Hb SS disease, Beta-thalassemia HBB/LCRB,
Hereditary persistence of fetal hemoglobin, Methemoglobinemia, beta-globin type, Heinz body anemia,
Malaria, susceptibility to, alpha ThalassemiaDominant beta-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,
Erythrocytosis, familial, 6, Hb SS disease, Beta-thalassemia HBB/LCRB,
Hereditary persistence of fetal hemoglobin, Methemoglobinemia, beta-globin type, Heinz body anemia,
Malaria, susceptibility to, alpha ThalassemiaDominant beta-thalassemia,
...see more | Pathogenic
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5247993-5247996
- GRCh38:
- Chr11:5226763-5226766
| HBB, LOC106099062, LOC107133510 | F42fs | Beta-thalassemia HBB/LCRB, Inborn genetic diseases, not provided,
Fetal hemoglobin quantitative trait locus 1, Hb SS disease, beta Thalassemia,
Erythrocytosis, familial, 6, Hb SS disease, Beta-thalassemia HBB/LCRB,
Hereditary persistence of fetal hemoglobin, Methemoglobinemia, beta-globin typeHeinz body anemia,
Malaria, susceptibility to, alpha Thalassemia, Dominant beta-thalassemia,
...see more | Pathogenic/Likely pathogenic
(Nov 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5247987
- GRCh38:
- Chr11:5226757
| LOC107133510, HBB, LOC106099062 | F46fs | not provided, Dominant beta-thalassemia, beta Thalassemia,
Erythrocytosis, familial, 6, Hb SS disease, Beta-thalassemia HBB/LCRB,
Hereditary persistence of fetal hemoglobin, Methemoglobinemia, beta-globin type, Heinz body anemia,
Malaria, susceptibility to, alpha ThalassemiaDominant beta-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 | Inborn genetic diseases, Hemoglobinopathy, not provided,
beta Thalassemia, Erythrocytosis, familial, 6, Hb SS disease,
Beta-thalassemia HBB/LCRB, Hereditary persistence of fetal hemoglobin, Methemoglobinemia, beta-globin type,
Heinz body anemia, Malaria, susceptibility toalpha Thalassemia,
Dominant beta-thalassemia, ...see more | Pathogenic
(Jun 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248226-5248227
- GRCh38:
- Chr11:5226996-5226997
| LOC106099062, LOC107133510, HBB | K9fs | Hb SS disease, not provided, beta Thalassemia,
Beta-thalassemia HBB/LCRB | Pathogenic
(Feb 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5247938
- GRCh38:
- Chr11:5226708
| LOC107133510, HBB, LOC106099062 | K62* | not provided, beta Thalassemia, Methemoglobinemia, beta-globin type,
Malaria, susceptibility to, alpha Thalassemia, Heinz body anemia,
Beta-thalassemia HBB/LCRB, Hereditary persistence of fetal hemoglobin, Erythrocytosis, familial, 6,
Hb SS disease, Dominant beta-thalassemia ...see more | Pathogenic
(Jan 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5247992
- GRCh38:
- Chr11:5226762
| HBB, LOC107133510, LOC106099062 | 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
| HBB, LOC107133510, LOC110006319 | 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
| HBB, LOC106099062, LOC107133510 | Q40* | not provided, alpha Thalassemia, Heinz body anemia,
beta Thalassemia, Beta-thalassemia HBB/LCRB, Inborn genetic diseases,
Hb SS disease, Erythrocytosis, familial, 6, Hb SS disease,
Beta-thalassemia HBB/LCRB, Hereditary persistence of fetal hemoglobinMethemoglobinemia, beta-globin type,
Heinz body anemia, Malaria, susceptibility to, alpha Thalassemia,
Dominant beta-thalassemia, ...see more | Pathogenic
(Feb 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248200
- GRCh38:
- Chr11:5226970
| HBB, LOC106099062, LOC107133510 | K18* | Erythrocytosis, familial, 6, Hb SS disease, Methemoglobinemia, beta-globin type,
Heinz body anemia, Fetal hemoglobin quantitative trait locus 1, beta Thalassemia,
Malaria, susceptibility to, alpha Thalassemia, Dominant beta-thalassemia,
not provided, Hb SS diseasebeta Thalassemia,
Beta-thalassemia HBB/LCRB, ...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, LOC107133510, LOC106099062 | L15P | not specified, not provided, Hb SS disease,
Beta-thalassemia HBB/LCRB, Heinz body anemia, Hereditary persistence of fetal hemoglobin,
Malaria, susceptibility to, alpha Thalassemia, Erythrocytosis, familial, 6,
Methemoglobinemia, beta-globin type, Dominant beta-thalassemia ...see more | Uncertain significance
(Apr 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248232
- GRCh38:
- Chr11:5227002
| HBB, LOC106099062, LOC107133510 | E7V | not provided, Erythrocytosis, familial, 6, Hb SS disease,
Methemoglobinemia, beta-globin type, Heinz body anemia, Fetal hemoglobin quantitative trait locus 1,
beta Thalassemia, Malaria, susceptibility to, alpha Thalassemia,
Dominant beta-thalassemia, HBB-Related DisordersSickle cell disease and related diseases,
Hb SS disease, Sickle cell-hemoglobin C disease, beta Thalassemia,
Beta-thalassemia HBB/LCRB, Inborn genetic diseases, See cases,
...see more | Pathogenic
(Feb 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248191
- GRCh38:
- Chr11:5226961
| LOC106099062, LOC107133510, HBB | V21M | not provided, Erythrocytosis, familial, 6, Hb SS disease,
Beta-thalassemia HBB/LCRB, Hereditary persistence of fetal hemoglobin, Methemoglobinemia, beta-globin type,
Heinz body anemia, Malaria, susceptibility to, alpha Thalassemia,
Dominant beta-thalassemia | Pathogenic
(Jan 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5246908
- GRCh38:
- Chr11:5225678
| HBB, LOC107133510, LOC110006319 | E122K | Sickle cell-Hemoglobin O Arab disease, not provided, beta Thalassemia,
Hb SS disease, Erythrocytosis, familial, 6, Hb SS disease,
Beta-thalassemia HBB/LCRB, Hereditary persistence of fetal hemoglobin, Methemoglobinemia, beta-globin type,
Heinz body anemia, Malaria, susceptibility toalpha Thalassemia,
Dominant beta-thalassemia, ...see more | Pathogenic/Likely pathogenic
(Oct 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5246883
- GRCh38:
- Chr11:5225653
| LOC107133510, LOC110006319, HBB | A130V | Hemoglobinopathy, not provided, Hb SS disease
| Conflicting interpretations of pathogenicity
(Sep 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:5248170
- GRCh38:
- Chr11:5226940
| LOC107133510, LOC106099062, HBB | A28S | Hemoglobinopathy, not provided, beta Thalassemia,
Hb SS disease | Pathogenic/Likely pathogenic
(May 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248160
- GRCh38:
- Chr11:5226930
| HBB, LOC106099062, LOC107133510 | R31T | not provided, Beta-thalassemia major, Hb SS disease,
beta Thalassemia | Pathogenic
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5246862
- GRCh38:
- Chr11:5225632
| LOC107133510, LOC110006319, HBB | G137D | Inborn genetic diseases, not specified, not provided,
Hb SS disease, beta Thalassemia, Beta-thalassemia HBB/LCRB
| Conflicting interpretations of pathogenicity
(Aug 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:5248218
- GRCh38:
- Chr11:5226988
| HBB, LOC106099062, LOC107133510 | V12I | not provided, Hemoglobin E, Fetal hemoglobin quantitative trait locus 1,
Hb SS disease, beta Thalassemia, not specified,
Erythrocytosis, familial, 6, Hb SS disease, Beta-thalassemia HBB/LCRB,
Hereditary persistence of fetal hemoglobin, Methemoglobinemia, beta-globin typeHeinz body anemia,
Malaria, susceptibility to, alpha Thalassemia, Dominant beta-thalassemia,
...see more | Uncertain significance
(Jul 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5248173
- GRCh38:
- Chr11:5226943
| HBB, LOC106099062, LOC107133510 | E27K | Erythrocytosis, familial, 6, Hb SS disease, Methemoglobinemia, beta-globin type,
Heinz body anemia, Fetal hemoglobin quantitative trait locus 1, beta Thalassemia,
Malaria, susceptibility to, alpha Thalassemia, Dominant beta-thalassemia,
Inborn genetic diseases, not specifiednot provided,
beta Thalassemia, Beta-thalassemia HBB/LCRB, Hemoglobin E disease,
Hb SS disease, Anemia, ...see more | Pathogenic
(Dec 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5246908
- GRCh38:
- Chr11:5225678
| LOC107133510, LOC110006319, HBB | E122Q | HBB-Related Disorders, Hemoglobin D disease, Heinz body anemia,
Hb SS disease, Hemoglobin E, not provided,
Fetal hemoglobin quantitative trait locus 1, beta Thalassemia | Conflicting interpretations of pathogenicity
(Oct 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:5248184
- GRCh38:
- Chr11:5226954
| LOC106099062, HBB, LOC107133510 | E23V | not provided, Methemoglobinemia, beta-globin type, Malaria, susceptibility to,
alpha Thalassemia, Heinz body anemia, Beta-thalassemia HBB/LCRB,
Hereditary persistence of fetal hemoglobin, Erythrocytosis, familial, 6, Hb SS disease,
Dominant beta-thalassemia | Uncertain significance
(Jul 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:5247914
- GRCh38:
- Chr11:5226684
| LOC107133510, HBB, LOC106099062 | G70S | Methemoglobinemia, beta-globin type, beta Thalassemia, Fetal hemoglobin quantitative trait locus 1,
Malaria, susceptibility to, alpha Thalassemia, Dominant beta-thalassemia,
Erythrocytosis, familial, 6, Hb SS disease, Heinz body anemia,
not specified, not providedFetal hemoglobin quantitative trait locus 1,
beta Thalassemia, Hb SS disease, Hemoglobin E,
...see more | Conflicting interpretations of pathogenicity
(Mar 7, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:5248233
- GRCh38:
- Chr11:5227003
| HBB, LOC106099062, LOC107133510 | E7K | Beta-thalassemia HBB/LCRB, Erythrocytosis, familial, 6, Hb SS disease,
Methemoglobinemia, beta-globin type, Heinz body anemia, Fetal hemoglobin quantitative trait locus 1,
beta Thalassemia, Malaria, susceptibility to, alpha Thalassemia,
Dominant beta-thalassemia, Hereditary persistence of fetal hemoglobinInborn genetic diseases,
not specified, Heinz body anemia, not provided,
Sickle cell-hemoglobin C disease, beta Thalassemia, Hb SS disease,
...see more | Conflicting interpretations of pathogenicity
(Feb 9, 2023) | criteria provided, conflicting interpretations |