A total 520 pathogenic variants reported in gene hemoglobin subunit beta (HBB)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000518.5(HBB):c.431A>G (p.His144Arg) SNV
Germline		 Chr11:5225611 Pathogenic/Likely pathogenic HEMOGLOBIN ABRUZZO
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA124714 rs_33918338

3 SubmittersRCV000016243RCV001284490
NM_000518.5(HBB):c.305A>G (p.Glu102Gly) SNV
Germline		 Chr11:5226587 Pathogenic; other HEMOGLOBIN ALBERTA
Erythrocytosis, familial, 6		 No Assertion Criteria Provided
 CA124720 rs_33937393

1 SubmittersRCV000016247RCV000641405
NM_000518.5(HBB):c.435G>C (p.Lys145Asn) SNV
Germline		 Chr11:5225607 Pathogenic HEMOGLOBIN ANDREW-MINNEAPOLIS
Condition: not provided
Erythrocytosis, familial, 6		 Criteria Provided
Single Submitter
 CA124724 rs_35020585

2 SubmittersRCV000016249RCV001811146RCV000641406
NM_000518.5(HBB):c.122G>A (p.Arg41Lys) SNV
Germline		 Chr11:5226770 Conflicting classifications of pathogenicity HEMOGLOBIN ATHENS-GEORGIA
Condition: not provided
not specified
8 conditions		 Criteria Provided
Conflicting Classifications
 CA124728 rs_34831026

6 SubmittersRCV000016252RCV000756230RCV002265556RCV005049340
NM_000518.4(HBB):c.283G>C (p.Asp95His) SNV
Germline		 Chr11:5226609 Pathogenic; other HEMOGLOBIN BARCELONA
Erythrocytosis, familial, 6		 No Assertion Criteria Provided
 CA124736 rs_33959340

1 SubmittersRCV000016258RCV000641409
NM_000518.5(HBB):c.380T>C (p.Val127Ala) SNV
Germline		 Chr11:5225662 Conflicting classifications of pathogenicity HEMOGLOBIN BEIRUT
Condition: not provided
not specified
8 conditions		 Criteria Provided
Conflicting Classifications
 CA124740 rs_33925391

5 SubmittersRCV000016260RCV001284157RCV001778654RCV005049341
NM_000518.4(HBB):c.266T>G (p.Leu89Arg) SNV
Germline		 Chr11:5226626 Pathogenic; other HEMOGLOBIN BORAS
HBB-related disorder		 No Assertion Criteria Provided
 CA124744 rs_33940204

2 SubmittersRCV000016262RCV004724745
NM_000518.4(HBB):c.365A>T (p.Glu122Val) SNV
Germline		 Chr11:5225677 Conflicting classifications of pathogenicity HEMOGLOBIN BEOGRAD
HEMOGLOBIN D (CAMPERDOWN)
not specified
8 conditions
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA124748 rs_33987957

4 SubmittersRCV000016264RCV000016265RCV004586012RCV005049342RCV006258919
NM_000518.5(HBB):c.436T>C (p.Tyr146His) SNV
Germline		 Chr11:5225606 Pathogenic HEMOGLOBIN BETHESDA
Erythrocytosis, familial, 6
Condition: not provided		 Criteria Provided
Single Submitter
 CA124752 rs_33949869

2 SubmittersRCV000016267RCV000641411RCV001811147
NM_000518.4(HBB):c.302C>T (p.Pro101Leu) SNV
Germline		 Chr11:5226590 Pathogenic; other HEMOGLOBIN BRIGHAM
Erythrocytosis, familial, 6		 No Assertion Criteria Provided
 CA124760 rs_33965000

1 SubmittersRCV000016271RCV000641413
NM_000518.4(HBB):c.206T>A (p.Leu69His) SNV
Germline		 Chr11:5226686 Pathogenic; other HEMOGLOBIN BRISBANE
HEMOGLOBIN GREAT LAKES
Erythrocytosis, familial, 6		 No Assertion Criteria Provided
 CA124762 rs_33972593

1 SubmittersRCV000016272RCV000016273RCV000641416
NM_000518.4(HBB):c.304G>A (p.Glu102Lys) SNV
Germline		 Chr11:5226588 Pathogenic; other HEMOGLOBIN BRITISH COLUMBIA
Erythrocytosis, familial, 6		 No Assertion Criteria Provided
 CA124764 rs_33966487

1 SubmittersRCV000016274RCV000641420
NM_000518.5(HBB):c.257T>C (p.Phe86Ser) SNV
Germline		 Chr11:5226635 Pathogenic Hemoglobinopathy
Condition: not provided		 Criteria Provided
Single Submitter
 CA124772 rs_35693898

2 SubmittersRCV000016279RCV003114195
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) SNV
Germline		 Chr11:5227003 Pathogenic/Likely pathogenic HEMOGLOBIN C
Malaria, resistance to
Hb SS disease
Condition: not provided
beta Thalassemia
9 conditions
Heinz body anemia
Inborn genetic diseases
Beta-thalassemia HBB/LCRB
Hereditary persistence of fetal hemoglobin
Sickle cell-hemoglobin C disease
HBB-related disorder
8 conditions
Inherited hemoglobinopathy
Heinz body anemia
alpha Thalassemia
Beta-thalassemia HBB/LCRB
Dominant beta-thalassemia
Hb SS disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA124780 rs_33930165

35 SubmittersRCV000016284RCV000016285RCV000202507RCV000224028RCV000576347RCV001535943RCV001813746RCV002415418RCV002288494RCV003137529RCV003150807RCV003335041RCV005049343RCV004017254RCV005357128
NM_000518.4(HBB):c.299A>T (p.Asp100Val) SNV
Germline		 Chr11:5226593 Pathogenic; other HEMOGLOBIN CHEMILLY
Erythrocytosis, familial, 6		 No Assertion Criteria Provided
 CA124789 rs_33971048

1 SubmittersRCV000016297RCV000641428
NM_000518.4(HBB):c.137T>C (p.Phe46Ser) SNV
Germline		 Chr11:5226755 Conflicting classifications of pathogenicity HEMOGLOBIN CHEVERLY
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA124791 rs_33978338

3 SubmittersRCV000016298RCV000757360RCV003155027
NM_000518.5(HBB):c.200A>C (p.Lys67Thr) SNV
Germline		 Chr11:5226692 Likely pathogenic HEMOGLOBIN CHICO
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA124793 rs_35939489

3 SubmittersRCV000016299RCV001811148
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) SNV
Germline		 Chr11:5226684 Conflicting classifications of pathogenicity HEMOGLOBIN CITY OF HOPE
beta Thalassemia
Condition: not provided
Fetal hemoglobin quantitative trait locus 1
beta Thalassemia
Hb SS disease
Dominant beta-thalassemia
Fetal hemoglobin quantitative trait locus 1
not specified
Hb SS disease
9 conditions
Hemoglobin E
Hemoglobinopathy
Heinz body anemia
alpha Thalassemia
Beta-thalassemia HBB/LCRB
Hb SS disease
Dominant beta-thalassemia
8 conditions		 Criteria Provided
Conflicting Classifications
 CA124797 rs_33947415

16 SubmittersRCV000016301RCV000396079RCV000587680RCV000709890RCV001107023RCV000855646RCV001004567RCV001535933RCV001107022RCV005417430RCV005364880RCV005049344
NM_000518.4(HBB):c.440A>T (p.His147Leu) SNV
Germline		 Chr11:5225602 Pathogenic; other HEMOGLOBIN COWTOWN
Erythrocytosis, familial, 6		 No Assertion Criteria Provided
 CA124809 rs_33954264

1 SubmittersRCV000016307RCV000641431
NM_000518.4(HBB):c.388G>C (p.Ala130Pro) SNV
Germline		 Chr11:5225654 Conflicting classifications of pathogenicity HEMOGLOBIN CRETE
beta Thalassemia
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA124812 rs_35939430

4 SubmittersRCV000016309RCV001823097RCV004998083RCV005437962
NM_000518.4(HBB):c.269G>A (p.Ser90Asn) SNV
Germline		 Chr11:5226623 Pathogenic/Likely pathogenic; other HEMOGLOBIN CRETEIL
Erythrocytosis, familial, 6
beta Thalassemia		 No Assertion Criteria Provided
 CA124814 rs_33917628

2 SubmittersRCV000016310RCV000641434RCV001374642
NM_000518.4(HBB):c.263C>A (p.Thr88Lys) SNV
Germline		 Chr11:5226629 Conflicting classifications of pathogenicity HEMOGLOBIN D (IBADAN)
not specified
beta Thalassemia		 Criteria Provided
Conflicting Classifications
 CA124820 rs_33993568

4 SubmittersRCV000016313RCV000506646RCV001826463
NM_000518.4(HBB):c.67G>C (p.Glu23Gln) SNV
Germline		 Chr11:5226955 Conflicting classifications of pathogenicity HEMOGLOBIN D (IRAN)
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA124822 rs_33959855

5 SubmittersRCV000016314RCV000589411RCV001280542
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) SNV
Germline		 Chr11:5225678 Pathogenic/Likely pathogenic Hb D-Los Angeles
beta Thalassemia
Hb SS disease
Condition: not provided
HBB-related disorder
Hemoglobin D disease
Heinz body anemia
8 conditions
Beta-thalassemia HBB/LCRB		 Criteria Provided
Multiple Submitters
No Conflicts
 CA124824 rs_33946267

20 SubmittersRCV000016317RCV000029994RCV000202465RCV000723826RCV000778329RCV001175348RCV002247348RCV005049345RCV005229799
NM_000518.5(HBB):c.60C>A (p.Asn20Lys) SNV
Germline		 Chr11:5226962 Conflicting classifications of pathogenicity HEMOGLOBIN D (OULED RABAH)
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA124826 rs_63750840

3 SubmittersRCV000016321RCV001811149RCV004526596
NM_000518.4(HBB):c.8A>G (p.His3Arg) SNV
Germline		 Chr11:5227014 Conflicting classifications of pathogenicity HEMOGLOBIN DEER LODGE
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA124828 rs_33983205

3 SubmittersRCV000016324RCV001811150
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) SNV
Germline		 Chr11:5226943 Pathogenic Hemoglobin E
BETA-PLUS-THALASSEMIA
Hemoglobin E/beta thalassemia disease
Malaria, resistance to
Hb SS disease
beta Thalassemia
not specified
Condition: not provided
Hemoglobin E disease
Anemia
9 conditions
Inborn genetic diseases
Beta-thalassemia HBB/LCRB
Malaria, susceptibility to
8 conditions
HBB-related disorder
7 conditions
Hereditary persistence of fetal hemoglobin
Hemoglobin E/beta- thalassemia
Heinz body anemia
alpha Thalassemia
Beta-thalassemia HBB/LCRB
Dominant beta-thalassemia
Hb SS disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA124838 rs_33950507

36 SubmittersRCV000016329RCV000016330RCV000016331RCV000016332RCV000202534RCV000496072RCV000506024RCV000521111RCV000778330RCV000853358RCV001536065RCV002415419RCV002288495RCV003989105RCV004795418RCV004532365RCV005222686RCV005229800RCV005252683RCV005357129
NM_000518.4(HBB):c.67G>A (p.Glu23Lys) SNV
Germline		 Chr11:5226955 Conflicting classifications of pathogenicity HEMOGLOBIN E (SASKATOON)
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA124839 rs_33959855

3 SubmittersRCV000016333RCV000757362
NM_000518.5(HBB):c.334G>C (p.Val112Leu) SNV
Germline		 Chr11:5225708 Conflicting classifications of pathogenicity Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA037014 rs_33957964

2 SubmittersRCV001811077RCV004782447
NM_000518.4(HBB):c.142G>A (p.Asp48Asn) SNV
Germline		 Chr11:5226750 Conflicting classifications of pathogenicity HEMOGLOBIN G (COPENHAGEN)
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA124851 rs_33932070

4 SubmittersRCV000016342RCV001284628RCV004526597
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) SNV
Germline		 Chr11:5226954 Conflicting classifications of pathogenicity HEMOGLOBIN G (SASKATOON)
HEMOGLOBIN G (TAEGU)
HEMOGLOBIN G (COUSHATTA)
HEMOGLOBIN G (HSIN-CHU)
beta Thalassemia
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA124853 rs_33936254

7 SubmittersRCV000016344RCV000016346RCV000016343RCV000016345RCV000030001RCV000224041RCV003226160
NM_000518.5(HBB):c.131A>C (p.Glu44Ala) SNV
Germline		 Chr11:5226761 Conflicting classifications of pathogenicity HEMOGLOBIN G (TEXAS)
HEMOGLOBIN G (GALVESTON)
HEMOGLOBIN G (PORT ARTHUR)
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA124857 rs_35262412

3 SubmittersRCV000016350RCV000016348RCV000016349RCV000507079RCV002476973
NM_000518.4(HBB):c.68A>G (p.Glu23Gly) SNV
Germline		 Chr11:5226954 Conflicting classifications of pathogenicity HEMOGLOBIN G (TAIPEI)
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA124867 rs_33936254

3 SubmittersRCV000016356RCV000756231
NM_000518.4(HBB):c.86T>C (p.Leu29Pro) SNV
Germline		 Chr11:5226936 Pathogenic HEMOGLOBIN GENOVA
HEMOGLOBIN HYOGO
Hemoglobinopathy		 Criteria Provided
Single Submitter
 CA124877 rs_33916412

2 SubmittersRCV000016362RCV000016363RCV001731302
NM_000518.5(HBB):c.128T>C (p.Phe43Ser) SNV
Germline		 Chr11:5226764 Pathogenic HEMOGLOBIN HAMMERSMITH
HEMOGLOBIN CHIBA
Heinz body anemia
Condition: not provided
beta Thalassemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA124890 rs_34378160

4 SubmittersRCV000016371RCV000016372RCV000016373RCV000757359RCV001831570
NM_000518.5(HBB):c.312C>G (p.Phe104Leu) SNV
Germline		 Chr11:5226580 Pathogenic; other HEMOGLOBIN HEATHROW
Erythrocytosis, familial, 6		 No Assertion Criteria Provided
 CA124894 rs_35067717

1 SubmittersRCV000016375RCV000641462
NM_000518.4(HBB):c.248A>T (p.Lys83Met) SNV
Germline		 Chr11:5226644 Pathogenic HEMOGLOBIN HELSINKI
Erythrocytosis, familial, 6
Condition: not provided		 Criteria Provided
Single Submitter
 CA124896 rs_33987903

2 SubmittersRCV000016376RCV000641463RCV001811153
NM_000518.5(HBB):c.186G>C (p.Lys62Asn) SNV
Germline		 Chr11:5226706 Conflicting classifications of pathogenicity HEMOGLOBIN HIKARI
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA124902 rs_34446260

3 SubmittersRCV000016379RCV003103714RCV003234908
NM_000518.4(HBB):c.439C>G (p.His147Asp) SNV
Germline		 Chr11:5225603 Pathogenic; other HEMOGLOBIN HIROSHIMA
Erythrocytosis, familial, 6		 No Assertion Criteria Provided
 CA124910 rs_33961444

1 SubmittersRCV000016383RCV000641470
NM_000518.5(HBB):c.380T>A (p.Val127Glu) SNV
Germline		 Chr11:5225662 Conflicting classifications of pathogenicity HEMOGLOBIN HOFU
Condition: not provided
beta Thalassemia
8 conditions		 Criteria Provided
Conflicting Classifications
 CA124912 rs_33925391

6 SubmittersRCV000016384RCV000759797RCV001507092RCV005049347
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) SNV
Germline		 Chr11:5225632 Conflicting classifications of pathogenicity not specified
beta Thalassemia
Hb SS disease
Condition: not provided
Inborn genetic diseases
Beta-thalassemia HBB/LCRB		 Criteria Provided
Conflicting Classifications
 CA124914 rs_33949486

7 SubmittersRCV000016385RCV000029996RCV001004558RCV001284489RCV002321485RCV002290955
NM_000518.4(HBB):c.299A>G (p.Asp100Gly) SNV
Germline		 Chr11:5226593 Pathogenic; other HEMOGLOBIN HOTEL-DIEU
Erythrocytosis, familial, 6		 No Assertion Criteria Provided
 CA124918 rs_33971048

1 SubmittersRCV000016388RCV000641476
NM_000518.5(HBB):c.199A>G (p.Lys67Glu) SNV
Germline		 Chr11:5226693 Conflicting classifications of pathogenicity Hemoglobinopathy
Condition: not provided
not specified
8 conditions		 Criteria Provided
Conflicting Classifications
 CA124922 rs_34165323

4 SubmittersRCV000016390RCV000985737RCV004586013RCV005049348
NM_000518.5(HBB):c.337T>C (p.Cys113Arg) SNV
Germline		 Chr11:5225705 Pathogenic; other Heinz body anemia
HEMOGLOBIN INDIANAPOLIS		 No Assertion Criteria Provided
 CA124924 rs_35849199

1 SubmittersRCV000016393RCV000016392
NM_000518.5(HBB):c.279C>R (p.His93Gln) SNV
Germline		 Chr11:5226613 Pathogenic HEMOGLOBIN SAINT ETIENNE No Assertion Criteria Provided
 rs_34083951

1 SubmittersRCV000016395
NM_000518.5(HBB):c.50G>A (p.Gly17Asp) SNV
Germline		 Chr11:5226972 Conflicting classifications of pathogenicity HEMOGLOBIN J (BALTIMORE)
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA124935 rs_33962676

6 SubmittersRCV000016400RCV000755547RCV004562214
NM_000518.5(HBB):c.170G>A (p.Gly57Asp) SNV
Germline		 Chr11:5226722 Conflicting classifications of pathogenicity not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA124937 rs_34439278

5 SubmittersRCV000016405RCV001811154
NM_000518.4(HBB):c.232C>G (p.His78Asp) SNV
Germline		 Chr11:5226660 Conflicting classifications of pathogenicity HEMOGLOBIN J (IRAN)
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA124951 rs_33991294

3 SubmittersRCV000016417RCV000985739
NM_000518.5(HBB):c.209G>A (p.Gly70Asp) SNV
Germline		 Chr11:5226683 Conflicting classifications of pathogenicity not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA124961 rs_34718174

3 SubmittersRCV000016423RCV001811155
NM_000518.5(HBB):c.328G>C (p.Val110Leu) SNV
Germline		 Chr11:5225714 Pathogenic HEMOGLOBIN JOHNSTOWN
Condition: not provided		 Criteria Provided
Single Submitter
 CA124969 rs_33969677

2 SubmittersRCV000016428RCV001284154
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) SNV
Germline		 Chr11:5226930 Pathogenic beta Thalassemia
Condition: not provided
Hb SS disease
Beta-thalassemia major
Beta-thalassemia HBB/LCRB
HBB-related disorder
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA213890 rs_33960103

21 SubmittersRCV000016432RCV000506942RCV001004351RCV001794452RCV003338382RCV004732545RCV005049349
NM_000518.4(HBB):c.298G>A (p.Asp100Asn) SNV
Germline		 Chr11:5226594 Pathogenic; other HEMOGLOBIN KEMPSEY
Erythrocytosis, familial, 6		 No Assertion Criteria Provided
 CA124977 rs_33954595

1 SubmittersRCV000016436RCV000641495
NM_000518.4(HBB):c.374C>G (p.Pro125Arg) SNV
Germline		 Chr11:5225668 Conflicting classifications of pathogenicity HEMOGLOBIN KHARTOUM
Hemoglobinopathy
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA124981 rs_33983276

4 SubmittersRCV000016438RCV000780333RCV004998086
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) SNV
Germline		 Chr11:5226940 Pathogenic HEMOGLOBIN KNOSSOS
BETA-PLUS-THALASSEMIA
Beta-Knossos-thalassemia
beta Thalassemia
Condition: not provided
Hemoglobinopathy
Hb SS disease
8 conditions
Malaria, susceptibility to
Beta-thalassemia HBB/LCRB		 Criteria Provided
Multiple Submitters
No Conflicts
 CA124983 rs_35424040

15 SubmittersRCV000016439RCV000016440RCV000016441RCV000169609RCV000757368RCV000780311RCV001004353RCV005049350RCV003992156RCV005623063
NM_000518.5(HBB):c.295G>A (p.Val99Met) SNV
Germline		 Chr11:5226597 Pathogenic Hemoglobinopathy
Heinz body anemia
beta Thalassemia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA124987 rs_33933298

6 SubmittersRCV000016443RCV000016446RCV001826464RCV001811157
NM_000518.4(HBB):c.220G>A (p.Asp74Asn) SNV
Germline		 Chr11:5226672 Conflicting classifications of pathogenicity HEMOGLOBIN KORLE-BU
Condition: not provided
not specified
beta Thalassemia		 Criteria Provided
Conflicting Classifications
 CA124991 rs_33945705

6 SubmittersRCV000016449RCV000587238RCV000855647RCV001826465
NM_000518.5(HBB):c.389C>T (p.Ala130Val) SNV
Germline		 Chr11:5225653 Conflicting classifications of pathogenicity HEMOGLOBIN LA DESIRADE
Hb SS disease
Condition: not provided
Hemoglobinopathy
8 conditions		 Criteria Provided
Conflicting Classifications
 CA124993 rs_111645889

7 SubmittersRCV000016450RCV001004559RCV001284158RCV001804165RCV005049351
Hb Little Rock SNV
Germline		 Chr11:5225610 Pathogenic Erythrocytosis, familial, 6 No Assertion Criteria Provided
 rs_36020563

1 SubmittersRCV000641506
NM_000518.5(HBB):c.127T>C (p.Phe43Leu) SNV
Germline		 Chr11:5226765 Pathogenic Hemolytic anemia No Assertion Criteria Provided
 CA125001 rs_33924146

1 SubmittersRCV000016458
NM_000518.5(HBB):c.89G>A (p.Gly30Asp) SNV
Germline		 Chr11:5226933 Likely pathogenic HEMOGLOBIN LUFKIN
Condition: not provided		 Criteria Provided
Single Submitter
 CA125003 rs_35685286

2 SubmittersRCV000016460RCV004998087
NM_000518.4(HBB):c.203T>A (p.Val68Glu) SNV
Germline		 Chr11:5226689 Pathogenic; other HEMOGLOBIN M (MILWAUKEE 1)
METHEMOGLOBINEMIA, BETA TYPE		 No Assertion Criteria Provided
 CA125007 rs_33918343

1 SubmittersRCV000016462RCV000641512
NM_000518.4(HBB):c.277C>T (p.His93Tyr) SNV
Germline		 Chr11:5226615 Pathogenic HEMOGLOBIN M (MILWAUKEE 2)
HEMOGLOBIN M (HYDE PARK)
HEMOGLOBIN M (AKITA)
METHEMOGLOBINEMIA, BETA TYPE
Condition: not provided		 Criteria Provided
Single Submitter
 CA125009 rs_33924775

2 SubmittersRCV000016463RCV000016464RCV000016465RCV000641516RCV003476895
NM_000518.5(HBB):c.190C>T (p.His64Tyr) SNV
Germline		 Chr11:5226702 Pathogenic HEMOGLOBIN M (SASKATOON)
HEMOGLOBIN M (RADOM) METHEMOGLOBINEMIA, BETA TYPE
beta Thalassemia
Inborn genetic diseases
Condition: not provided
METHEMOGLOBINEMIA, BETA TYPE		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125011 rs_33922873

7 SubmittersRCV000016466RCV000641524RCV000988480RCV001266995RCV004998088RCV005429213
NM_000518.5(HBB):c.346G>C (p.Ala116Pro) SNV
Germline		 Chr11:5225696 Pathogenic HEMOGLOBIN MADRID
Dominant beta-thalassemia		 Criteria Provided
Single Submitter
 CA125013 rs_34945623

2 SubmittersRCV000016478RCV005417431
NM_000518.5(HBB):c.59A>G (p.Asn20Ser) SNV
Germline		 Chr11:5226963 Pathogenic HEMOGLOBIN MALAY
BETA-PLUS-THALASSEMIA
Beta-Malay-thalassemia
beta Thalassemia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125015 rs_33972047

7 SubmittersRCV000016479RCV000016480RCV000016481RCV000020338RCV000508637
NM_000518.5(HBB):c.294C>R (p.His98Gln) SNV
Germline		 Chr11:5226598 Pathogenic; other HEMOGLOBIN MALMO
Erythrocytosis, familial, 6		 No Assertion Criteria Provided
 rs_34515413

1 SubmittersRCV000016482RCV000641527
NM_000518.5(HBB):c.438T>A (p.Tyr146Ter) SNV
Germline		 Chr11:5225604 Pathogenic; other HEMOGLOBIN MCKEES ROCKS
Erythrocytosis, familial, 6		 No Assertion Criteria Provided
 CA125026 rs_35291591

1 SubmittersRCV000016489RCV000641529
NM_000518.4(HBB):c.206T>C (p.Leu69Pro) SNV
Germline		 Chr11:5226686 Likely pathogenic HEMOGLOBIN MIZUHO
Atypical hemolytic-uremic syndrome		 Criteria Provided
Single Submitter
 CA125036 rs_33972593

2 SubmittersRCV000016497RCV003447476
NM_000518.5(HBB):c.286A>G (p.Lys96Glu) SNV
Germline		 Chr11:5226606 Conflicting classifications of pathogenicity HEMOGLOBIN N (BALTIMORE)
HEMOGLOBIN N (JENKINS)
HEMOGLOBIN JENKINS
HEMOGLOBIN HOPKINS 1
HEMOGLOBIN KENWOOD
not specified
Condition: not provided
beta Thalassemia		 Criteria Provided
Conflicting Classifications
 CA125046 rs_33914359

6 SubmittersRCV000016504RCV000016505RCV000016506RCV000016507RCV000016508RCV000506157RCV000755549RCV001835628
NM_000518.4(HBB):c.25A>G (p.Lys9Glu) SNV
Germline/somatic		 Chr11:5226997 Pathogenic HEMOGLOBIN N (TIMONE)
Condition: not provided		 Criteria Provided
Single Submitter
 CA125050 rs_33926764

2 SubmittersRCV000016511RCV001269803
NM_000518.5(HBB):c.341T>A (p.Val114Glu) SNV
Germline		 Chr11:5225701 Conflicting classifications of pathogenicity not specified
Condition: not provided
8 conditions		 Criteria Provided
Conflicting Classifications
 CA125058 rs_34484056

6 SubmittersRCV000016516RCV001284155RCV005049352
NM_000518.5(HBB):c.404T>A (p.Val135Glu) SNV
Germline		 Chr11:5225638 Pathogenic Hemoglobinopathy No Assertion Criteria Provided
 CA125066 rs_33966761

1 SubmittersRCV000016521
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) SNV
Germline		 Chr11:5225678 Pathogenic/Likely pathogenic HEMOGLOBIN O (ARAB)
HEMOGLOBIN EGYPT
beta Thalassemia
Hb SS disease
Condition: not provided
Sickle cell-Hemoglobin O Arab disease
9 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125070 rs_33946267

11 SubmittersRCV000016524RCV000016525RCV000029993RCV000202511RCV000508438RCV000587075RCV002476974
NM_000518.5(HBB):c.61G>A (p.Val21Met) SNV
Germline		 Chr11:5226961 Pathogenic/Likely pathogenic HEMOGLOBIN OLYMPIA
Erythrocytosis, familial, 6
Condition: not provided
8 conditions
Inborn genetic diseases
Hemoglobinopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125086 rs_35890959

7 SubmittersRCV000016533RCV000641556RCV000759801RCV005003360RCV005841521RCV004799743
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) SNV
Germline		 Chr11:5226735 Conflicting classifications of pathogenicity not specified
beta Thalassemia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA125088 rs_33961886

7 SubmittersRCV000016537RCV000029964RCV001811161
NM_000518.4(HBB):c.70G>T (p.Val24Phe) SNV
Germline		 Chr11:5226952 Pathogenic; other HEMOGLOBIN PALMERSTON NORTH
Erythrocytosis, familial, 6		 No Assertion Criteria Provided
 CA125092 rs_33929459

1 SubmittersRCV000016544RCV000641570
NM_000518.4(HBB):c.98T>C (p.Leu33Pro) SNV
Germline		 Chr11:5226794 Pathogenic HEMOGLOBIN PERTH
HEMOGLOBIN ABRAHAM LINCOLN
HEMOGLOBIN KOBE
Condition: not provided		 Criteria Provided
Single Submitter
 CA125096 rs_33948578

2 SubmittersRCV000016546RCV000016547RCV000016548RCV003480032
NM_000518.5(HBB):c.273G>C (p.Glu91Asp) SNV
Germline		 Chr11:5226619 Pathogenic HEMOGLOBIN PIERRE-BENITE
Hemoglobinopathy		 Criteria Provided
Single Submitter
 CA125102 rs_35002698

2 SubmittersRCV000016551RCV003387724
NM_000518.5(HBB):c.103G>T (p.Val35Phe) SNV
Germline		 Chr11:5226789 Likely pathogenic Erythrocytosis
Erythrocytosis, familial, 6
Condition: not provided
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125104 rs_1141387

3 SubmittersRCV000016552RCV000641578RCV001284488RCV005049353
NM_000518.4(HBB):c.299A>C (p.Asp100Ala) SNV
Germline		 Chr11:5226593 Pathogenic; other HEMOGLOBIN RADCLIFFE
Erythrocytosis, familial, 6		 No Assertion Criteria Provided
 CA125108 rs_33971048

1 SubmittersRCV000016555RCV000641589
NM_000518.5(HBB):c.306G>C (p.Glu102Asp) SNV
Germline		 Chr11:5226586 Pathogenic; other HEMOGLOBIN POTOMAC
Erythrocytosis, familial, 6		 No Assertion Criteria Provided
 CA125112 rs_35209591

1 SubmittersRCV000016557RCV000641582
NM_000518.5(HBB):c.249G>Y (p.Lys83Asn) SNV
Germline		 Chr11:5226643 Pathogenic; other HEMOGLOBIN PROVIDENCE
Erythrocytosis, familial, 6		 No Assertion Criteria Provided
 rs_33991993

1 SubmittersRCV000016559RCV000641585
NM_000518.5(HBB):c.251G>A (p.Gly84Asp) SNV
Germline		 Chr11:5226641 Conflicting classifications of pathogenicity HEMOGLOBIN PYRGOS
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA125116 rs_1803195

3 SubmittersRCV000016560RCV001811162RCV003234909
NM_000518.4(HBB):c.248A>C (p.Lys83Thr) SNV
Germline		 Chr11:5226644 Pathogenic; other HEMOGLOBIN RAHERE
Erythrocytosis, familial, 6		 No Assertion Criteria Provided
 CA125118 rs_33987903

1 SubmittersRCV000016561RCV000641593
NM_000518.5(HBB):c.437A>G (p.Tyr146Cys) SNV
Germline		 Chr11:5225605 Pathogenic HEMOGLOBIN RAINIER
Erythrocytosis, familial, 6
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125120 rs_35117167

3 SubmittersRCV000016562RCV000641598RCV001284491
NM_000518.5(HBB):c.5T>C (p.Val2Ala) SNV
Germline		 Chr11:5227017 Conflicting classifications of pathogenicity HEMOGLOBIN RALEIGH
not specified
Condition: not provided
beta Thalassemia		 Criteria Provided
Conflicting Classifications
 CA125122 rs_33949930

5 SubmittersRCV000016563RCV000781459RCV001811163RCV001831571
NM_000518.4(HBB):c.275T>C (p.Leu92Pro) SNV
Germline		 Chr11:5226617 Pathogenic HEMOGLOBIN SABINE
not specified		 Criteria Provided
Single Submitter
 CA125139 rs_33917785

2 SubmittersRCV000016581RCV000508375
NM_000518.5(HBB):c.421G>A (p.Ala141Thr) SNV
Germline		 Chr11:5225621 Pathogenic; other HEMOGLOBIN SAINT JACQUES
Erythrocytosis, familial, 6		 No Assertion Criteria Provided
 CA125141 rs_34980264

1 SubmittersRCV000016582RCV000641604
NM_000518.5(HBB):c.328G>A (p.Val110Met) SNV
Germline		 Chr11:5225714 Pathogenic beta Thalassemia
HEMOGLOBIN SAN DIEGO
Hemoglobinopathy
Condition: not provided
Erythrocytosis, familial, 6		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125147 rs_33969677

5 SubmittersRCV000169614RCV000016585RCV001553627RCV003476897RCV000641606
NM_000518.4(HBB):c.266T>C (p.Leu89Pro) SNV
Germline		 Chr11:5226626 Pathogenic/Likely pathogenic HEMOGLOBIN SANTA ANA
Condition: not provided
Beta-thalassemia HBB/LCRB		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125149 rs_33940204

4 SubmittersRCV000016586RCV000757364RCV003137530
NM_000518.4(HBB):c.127T>G (p.Phe43Val) SNV
Germline		 Chr11:5226765 Pathogenic Hemolytic anemia No Assertion Criteria Provided
 CA125156 rs_33924146

1 SubmittersRCV000016590
NM_000518.4(HBB):c.395A>C (p.Gln132Pro) SNV
Germline		 Chr11:5225647 Likely pathogenic HEMOGLOBIN SHANGHAI
Condition: not provided		 Criteria Provided
Single Submitter
 CA125158 rs_33950778

2 SubmittersRCV000016592RCV006258921
NM_000518.5(HBB):c.394C>A (p.Gln132Lys) SNV
Germline		 Chr11:5225648 Conflicting classifications of pathogenicity HEMOGLOBIN LESLIE
HEMOGLOBIN SHELBY
HEMOGLOBIN DEACONESS
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA125160 rs_33910209

3 SubmittersRCV000016594RCV000016593RCV000016595RCV000759798
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) SNV
Germline		 Chr11:5225710 Pathogenic HEMOGLOBIN SHOWA-YAKUSHIJI
BETA-PLUS-THALASSEMIA
Beta-Showa-Yakushiji thalassemia
beta Thalassemia
Hb SS disease
Condition: not provided
Beta-thalassemia HBB/LCRB		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125166 rs_35256489

7 SubmittersRCV000016598RCV000016599RCV000016600RCV000589517RCV001004561RCV002476975RCV004689418
NM_000518.5(HBB):c.4G>A (p.Val2Met) SNV
Germline		 Chr11:5227018 Conflicting classifications of pathogenicity HEMOGLOBIN SOUTH FLORIDA
not specified
beta Thalassemia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA125180 rs_33958358

6 SubmittersRCV000016609RCV000508674RCV001831572RCV005229803
NM_000518.4(HBB):c.86T>A (p.Leu29Gln) SNV
Germline		 Chr11:5226936 Pathogenic; other Heinz body anemia
HEMOGLOBIN ST. LOUIS		 No Assertion Criteria Provided
 CA125184 rs_33916412

1 SubmittersRCV000016612RCV000016611
NM_000518.5(HBB):c.431A>C (p.His144Pro) SNV
Germline		 Chr11:5225611 Pathogenic HEMOGLOBIN SYRACUSE
Erythrocytosis, familial, 6
Condition: not provided		 Criteria Provided
Single Submitter
 CA125192 rs_33918338

2 SubmittersRCV000016616RCV000641613RCV006449929
NM_000518.4(HBB):c.320T>A (p.Leu107Gln) SNV
Germline		 Chr11:5225722 Pathogenic METHEMOGLOBINEMIA, BETA TYPE Criteria Provided
Single Submitter
 CA125215 rs_33941844

2 SubmittersRCV000016630
NM_000518.5(HBB):c.268A>C (p.Ser90Arg) SNV
Germline		 Chr11:5226624 Pathogenic; other HEMOGLOBIN VANDERBILT
Erythrocytosis, familial, 6		 No Assertion Criteria Provided
 CA125223 rs_35351128

1 SubmittersRCV000016635RCV000641619
NM_000518.4(HBB):c.83C>A (p.Ala28Asp) SNV
Germline		 Chr11:5226939 Pathogenic HEMOGLOBIN VOLGA
HEMOGLOBIN DRENTHE
Condition: not provided		 Criteria Provided
Single Submitter
 CA125229 rs_33954632

2 SubmittersRCV000016638RCV000016639RCV001800304
NM_000518.4(HBB):c.293A>T (p.His98Leu) SNV
Germline		 Chr11:5226599 Likely pathogenic HEMOGLOBIN WOOD
Erythrocytosis, familial, 6
Condition: not provided		 Criteria Provided
Single Submitter
 CA125237 rs_33951978

2 SubmittersRCV000016643RCV000641622RCV005229804
NM_000518.4(HBB):c.298G>C (p.Asp100His) SNV
Germline		 Chr11:5226594 Pathogenic; other HEMOGLOBIN YAKIMA
Erythrocytosis, familial, 6		 No Assertion Criteria Provided
 CA125239 rs_33954595

1 SubmittersRCV000016644RCV000641624
NM_000518.4(HBB):c.440A>C (p.His147Pro) SNV
Germline		 Chr11:5225602 Pathogenic HEMOGLOBIN YORK
Erythrocytosis, familial, 6
Beta-thalassemia HBB/LCRB		 Criteria Provided
Single Submitter
 CA125245 rs_33954264

2 SubmittersRCV000016648RCV000641629RCV005434604
NM_000518.4(HBB):c.298G>T (p.Asp100Tyr) SNV
Germline		 Chr11:5226594 Pathogenic HEMOGLOBIN YPSILANTI
Erythrocytosis, familial, 6		 Criteria Provided
Single Submitter
 CA125249 rs_33954595

2 SubmittersRCV000016650RCV000641630
NM_000518.4(HBB):c.191A>G (p.His64Arg) SNV
Germline		 Chr11:5226701 Likely pathogenic HEMOGLOBIN ZURICH
Condition: not provided
Hemoglobinopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125255 rs_33985544

4 SubmittersRCV000016654RCV001284634RCV003987323
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) SNV
Germline		 Chr11:5226970 Pathogenic Beta zero thalassemia
beta Thalassemia
Condition: not provided
Hb SS disease
9 conditions
Beta-thalassemia HBB/LCRB
8 conditions
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125257 rs_33986703

17 SubmittersRCV000016655RCV000020337RCV000507505RCV001004355RCV000763255RCV002288498RCV005049356RCV005400415
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) SNV
Germline		 Chr11:5226774 Pathogenic Beta zero thalassemia
Condition: not provided
beta Thalassemia
alpha Thalassemia
Hb SS disease
Inborn genetic diseases
Heinz body anemia
Beta-thalassemia HBB/LCRB
Malaria, susceptibility to
HBB-related disorder
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125259 rs_11549407

40 SubmittersRCV000016656RCV000254827RCV000379715RCV001197268RCV001004570RCV002336086RCV002221479RCV002288499RCV003987324RCV004532366RCV005003361
NM_000518.5(HBB):c.47G>A (p.Trp16Ter) SNV
Germline		 Chr11:5226975 Pathogenic Beta zero thalassemia
Condition: not provided
beta Thalassemia
Hb SS disease
Beta-thalassemia HBB/LCRB
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125261 rs_63750783

17 SubmittersRCV000016657RCV000508601RCV000576738RCV001004356RCV003985073RCV005049357
NM_000518.5(HBB):c.364G>T (p.Glu122Ter) SNV
Germline		 Chr11:5225678 Pathogenic Dominant beta-thalassemia
Condition: not provided
beta Thalassemia
Hb SS disease
Beta-thalassemia HBB/LCRB		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125263 rs_33946267

8 SubmittersRCV000016658RCV000507274RCV000984185RCV001004560RCV005430462
NM_000518.5(HBB):c.114G>A (p.Trp38Ter) SNV
Germline		 Chr11:5226778 Pathogenic Beta zero thalassemia
beta Thalassemia
Condition: not provided
Hemoglobinopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125265 rs_33974936

10 SubmittersRCV000016659RCV000169502RCV000506223RCV000781456
NM_000518.5(HBB):c.130G>T (p.Glu44Ter) SNV
Germline		 Chr11:5226762 Pathogenic Beta zero thalassemia
Condition: not provided
beta Thalassemia
Hb SS disease
Hemoglobinopathy
Beta-thalassemia HBB/LCRB
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125267 rs_33922842

12 SubmittersRCV000016660RCV000506797RCV000665678RCV001004568RCV000780310RCV004795419RCV005049358
NM_000518.5(HBB):c.184A>T (p.Lys62Ter) SNV
Germline		 Chr11:5226708 Pathogenic Beta zero thalassemia
Condition: not provided
beta Thalassemia
9 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125269 rs_33995148

7 SubmittersRCV000016661RCV000506527RCV001078254RCV002504795
NM_000518.5(HBB):c.108C>A (p.Tyr36Ter) SNV
Germline		 Chr11:5226784 Pathogenic Beta zero thalassemia
beta Thalassemia
Condition: not provided
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125271 rs_33982568

6 SubmittersRCV000016662RCV001078304RCV001800305RCV005049359
NM_000518.5(HBB):c.383A>C (p.Gln128Pro) SNV
Germline		 Chr11:5225659 Pathogenic
BETA-PLUS-THALASSEMIA, DOMINANT
not specified		 Criteria Provided
Single Submitter
 CA125273 rs_33910569

2 SubmittersRCV000016664RCV000022611RCV001001456
NM_000518.4(HBB):c.182T>A (p.Val61Glu) SNV
Germline		 Chr11:5226710 Pathogenic; other BETA-PLUS-THALASSEMIA
HEMOGLOBIN CAGLIARI		 No Assertion Criteria Provided
 CA125277 rs_33931779

1 SubmittersRCV000016666RCV000016667
NM_000518.5(HBB):c.2T>G (p.Met1Arg) SNV
Germline		 Chr11:5227020 Pathogenic Beta zero thalassemia
Condition: not provided
beta Thalassemia
Hb SS disease
8 conditions
Beta-thalassemia HBB/LCRB		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125299 rs_33941849

10 SubmittersRCV000016691RCV000505904RCV000664667RCV001004361RCV005049363RCV005430107
NM_000518.5(HBB):c.92+1G>A SNV
Germline		 Chr11:5226929 Pathogenic Beta zero thalassemia
beta Thalassemia
Condition: not provided
Hb SS disease
Fetal hemoglobin quantitative trait locus 1
Beta-thalassemia HBB/LCRB
8 conditions
Beta-thalassemia HBB/LCRB
Dominant beta-thalassemia
Inborn genetic diseases
Dominant beta-thalassemia
Erythrocytosis, familial, 6		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125303 rs_33971440

33 SubmittersRCV000016694RCV000020340RCV000390929RCV001004350RCV001329338RCV002288501RCV005003368RCV004819209RCV004975260RCV005051735RCV005357131
NM_000518.5(HBB):c.92+1G>T SNV
Germline		 Chr11:5226929 Pathogenic Beta zero thalassemia
beta Thalassemia
Condition: not provided
Hb SS disease
Inborn genetic diseases
HBB-related disorder
Beta-thalassemia HBB/LCRB
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125304 rs_33971440

18 SubmittersRCV000016695RCV000169505RCV000507580RCV001004349RCV002444432RCV004532369RCV004689419RCV005003369
NM_000518.5(HBB):c.315+1G>A SNV
Germline		 Chr11:5226576 Pathogenic beta Thalassemia
Beta zero thalassemia
Condition: not provided
Hb SS disease
Dominant beta-thalassemia
not specified
Beta-thalassemia HBB/LCRB
Malaria, susceptibility to
Erythrocytosis, familial, 6
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125305 rs_33945777

31 SubmittersRCV000020332RCV000016696RCV000255349RCV001004566RCV001723572RCV001731303RCV002288502RCV003987325RCV005357132RCV005003370
NM_000518.5(HBB):c.93-1G>A SNV
Germline		 Chr11:5226800 Pathogenic Beta zero thalassemia
Condition: not provided
beta Thalassemia
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125309 rs_33943001

7 SubmittersRCV000016704RCV000508208RCV000587419RCV005049364
NM_000518.5(HBB):c.92+5G>C SNV
Germline		 Chr11:5226925 Pathogenic BETA-PLUS-THALASSEMIA
beta Thalassemia
Condition: not provided
Hb SS disease
9 conditions
Beta-thalassemia major
Beta-thalassemia HBB/LCRB
Inborn genetic diseases
Hereditary persistence of fetal hemoglobin
Malaria, susceptibility to
Hemoglobin E/beta- thalassemia
HBB-related disorder
Dominant beta-thalassemia
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125310 rs_33915217

35 SubmittersRCV000016705RCV000020341RCV000255746RCV001004348RCV000763253RCV001794453RCV002288503RCV002444433RCV003445071RCV003987326RCV005252684RCV004732547RCV004814907RCV005049365
NM_000518.5(HBB):c.92+5G>T SNV
Germline		 Chr11:5226925 Pathogenic BETA-PLUS-THALASSEMIA
Condition: not provided
beta Thalassemia
8 conditions
Beta-thalassemia HBB/LCRB		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125311 rs_33915217

10 SubmittersRCV000016706RCV000505898RCV000984182RCV005049366RCV005430463
NM_000518.5(HBB):c.92+5G>A SNV
Germline		 Chr11:5226925 Pathogenic BETA-PLUS-THALASSEMIA
beta Thalassemia
Condition: not provided
Beta-thalassemia HBB/LCRB
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125312 rs_33915217

10 SubmittersRCV000016707RCV000030004RCV001216321RCV005867761RCV005049367
NM_000518.5(HBB):c.92+6T>C SNV
Germline		 Chr11:5226924 Pathogenic/Likely pathogenic BETA-PLUS-THALASSEMIA
beta Thalassemia
Condition: not provided
9 conditions
Hb SS disease
Heinz body anemia
Inborn genetic diseases
Malaria, susceptibility to
HBB-related disorder
Beta-thalassemia HBB/LCRB
Erythrocytosis, familial, 6
8 conditions
Beta thalassemia intermedia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125313 rs_35724775

28 SubmittersRCV000016708RCV000415353RCV000417932RCV000763252RCV001004347RCV002247349RCV002371774RCV003988822RCV004532370RCV004566748RCV005357133RCV005049368RCV005406746
NM_000518.5(HBB):c.316-3C>A SNV
Germline		 Chr11:5225729 Pathogenic/Likely pathogenic BETA-PLUS-THALASSEMIA
Beta thalassemia intermedia
Condition: not provided
beta Thalassemia
9 conditions
HBB-related disorder
Beta-thalassemia HBB/LCRB
Acute myeloid leukemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125314 rs_33913413

15 SubmittersRCV000016709RCV000029987RCV000506607RCV000984183RCV002496382RCV004528115RCV005430464RCV005887530
NM_000518.5(HBB):c.93-21G>A SNV
Germline		 Chr11:5226820 Pathogenic/Likely pathogenic BETA-PLUS-THALASSEMIA
beta Thalassemia
Beta-thalassemia major
9 conditions
Hb SS disease
Condition: not provided
Fetal hemoglobin quantitative trait locus 1
Beta-thalassemia HBB/LCRB
Inborn genetic diseases
Malaria, susceptibility to
Erythrocytosis, familial, 6
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125315 rs_35004220

38 SubmittersRCV000016712RCV000020343RCV000030008RCV000763251RCV001004346RCV000799079RCV001262998RCV002288504RCV002371775RCV003989289RCV005357134RCV005049369
NM_000518.5(HBB):c.316-106C>G SNV
Germline		 Chr11:5225832 Pathogenic/Likely pathogenic BETA-PLUS-THALASSEMIA
beta Thalassemia
Condition: not provided
Hb SS disease
Dominant beta-thalassemia
Beta-thalassemia HBB/LCRB
HBB-related disorder
Erythrocytosis, familial, 6
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125316 rs_34690599

24 SubmittersRCV000016715RCV000029978RCV000506445RCV001004564RCV002272021RCV002288505RCV004732548RCV005357135RCV005003371
NM_000518.5(HBB):c.316-197C>T SNV
Germline		 Chr11:5225923 Pathogenic beta Thalassemia
Beta zero thalassemia
Beta-thalassemia major
Condition: not provided
Hb SS disease
HBB-related disorder
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125317 rs_34451549

14 SubmittersRCV000020334RCV000016716RCV000029984RCV000794203RCV001004565RCV004532371RCV005049370
NM_000518.5(HBB):c.75T>A (p.Gly25=) SNV
Germline		 Chr11:5226947 Pathogenic/Likely pathogenic BETA-PLUS-THALASSEMIA
beta Thalassemia
Condition: not provided
Hb SS disease
9 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125318 rs_33951465

11 SubmittersRCV000016717RCV000030002RCV000508672RCV001004354RCV002496383
NC_000011.10:g.5227159G>A SNV
Germline		 Chr11:5227159 Pathogenic/Likely pathogenic BETA-PLUS-THALASSEMIA
beta Thalassemia
Condition: not provided
Hemoglobinopathy
Inborn genetic diseases
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125320 rs_33944208

11 SubmittersRCV000016718RCV000020324RCV000507151RCV000781453RCV002390113RCV005049371
NC_000011.10:g.5227172G>A SNV
Germline		 Chr11:5227172 Pathogenic BETA-PLUS-THALASSEMIA
beta Thalassemia
Condition: not provided
HBB-related disorder
Malaria, susceptibility to
Beta-thalassemia HBB/LCRB
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125321 rs_63751208

16 SubmittersRCV000016719RCV000169081RCV000820736RCV004532372RCV003989290RCV004566749RCV005003372
NM_000518.5(HBB):c.-142C>T SNV
Germline		 Chr11:5227163 Pathogenic/Likely pathogenic BETA-PLUS-THALASSEMIA
beta Thalassemia
Beta thalassemia intermedia
Condition: not provided
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125322 rs_34883338

5 SubmittersRCV000016720RCV000445639RCV000589915RCV003476899RCV005049372
NM_000518.5(HBB):c.-137C>G SNV
Germline		 Chr11:5227158 Pathogenic/Likely pathogenic BETA-PLUS-THALASSEMIA
Beta thalassemia intermedia
beta Thalassemia
Condition: not provided
9 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125323 rs_33941377

10 SubmittersRCV000016722RCV000029951RCV000445653RCV000507653RCV002496385
NC_000011.10:g.5227157G>C SNV
Germline		 Chr11:5227157 Pathogenic/Likely pathogenic BETA-PLUS-THALASSEMIA
beta Thalassemia
Condition: not provided
Beta-thalassemia HBB/LCRB		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125324 rs_33994806

10 SubmittersRCV000016723RCV000029948RCV000505925RCV004689420
NM_000518.5(HBB):c.-81A>G SNV
Germline		 Chr11:5227102 Pathogenic BETA-PLUS-THALASSEMIA
beta Thalassemia
Condition: not provided
Beta thalassemia intermedia
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125325 rs_33981098

10 SubmittersRCV000016724RCV000445643RCV000506722RCV001255596RCV005049373
NC_000011.10:g.5227101A>T SNV
Germline		 Chr11:5227101 Pathogenic BETA-PLUS-THALASSEMIA
beta Thalassemia
Condition: not provided
not specified		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125326 rs_33980857

8 SubmittersRCV000016725RCV000029962RCV000508486RCV001000147
NC_000011.10:g.5227100T>C SNV
Germline		 Chr11:5227100 Pathogenic BETA-PLUS-THALASSEMIA
beta Thalassemia
Condition: not provided
Heinz body anemia
Inborn genetic diseases
8 conditions
Beta-thalassemia HBB/LCRB		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125327 rs_34598529

17 SubmittersRCV000016727RCV000020326RCV000810653RCV002247350RCV002415420RCV005003373RCV005867762
NM_000518.5(HBB):c.-78A>C SNV
Germline		 Chr11:5227099 Pathogenic BETA-PLUS-THALASSEMIA
Condition: not provided
beta Thalassemia
Hb SS disease
8 conditions
Beta-thalassemia HBB/LCRB		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125328 rs_33931746

10 SubmittersRCV000016728RCV000508592RCV000589656RCV001004363RCV005003374RCV005430108
NM_000518.5(HBB):c.-78A>G SNV
Germline		 Chr11:5227099 Pathogenic/Likely pathogenic BETA-PLUS-THALASSEMIA
beta Thalassemia
Condition: not provided
Hb SS disease
8 conditions
Beta-thalassemia HBB/LCRB		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125329 rs_33931746

14 SubmittersRCV000016729RCV000029960RCV000506257RCV001004362RCV005049374RCV004795422
NM_000518.5(HBB):c.*113A>G SNV
Germline		 Chr11:5225485 Pathogenic BETA-PLUS-THALASSEMIA
beta Thalassemia
Condition: not provided
Beta-thalassemia HBB/LCRB		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125330 rs_33985472

5 SubmittersRCV000016731RCV000445642RCV002513070RCV005430109
NM_000518.5(HBB):c.*112A>G SNV
Germline		 Chr11:5225486 Conflicting classifications of pathogenicity BETA-PLUS-THALASSEMIA
beta Thalassemia
Beta-thalassemia HBB/LCRB
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA125331 rs_63750954

4 SubmittersRCV000016734RCV005055516RCV005867763RCV006461169
NM_000518.5(HBB):c.380T>G (p.Val127Gly) SNV
Germline		 Chr11:5225662 Pathogenic/Likely pathogenic Hemoglobinopathy
beta Thalassemia
Condition: not provided
Beta thalassemia intermedia
Beta-thalassemia HBB/LCRB		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125340 rs_33925391

7 SubmittersRCV000016741RCV000674175RCV000756239RCV001260263RCV005430465
NM_000518.4(HBB):c.320T>G (p.Leu107Arg) SNV
Germline		 Chr11:5225722 Pathogenic; other BETA-PLUS-THALASSEMIA
HEMOGLOBIN TERRE HAUTE		 No Assertion Criteria Provided
 CA125345 rs_33941844

1 SubmittersRCV000016747RCV000016746
NM_000518.5(HBB):c.*111A>G SNV
Germline		 Chr11:5225487 Pathogenic BETA-PLUS-THALASSEMIA
beta Thalassemia
Condition: not provided
Hemoglobinopathy
Beta-thalassemia HBB/LCRB		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125347 rs_63751128

8 SubmittersRCV000016748RCV000445654RCV000506983RCV001193152RCV004566750
NM_000518.4(HBB):c.263C>T (p.Thr88Ile) SNV
Germline		 Chr11:5226629 Likely pathogenic not specified
Condition: not provided		 Criteria Provided
Single Submitter
 CA125355 rs_33993568

2 SubmittersRCV000016753RCV005229806
NM_000518.4(HBB):c.277C>A (p.His93Asn) SNV
Germline		 Chr11:5226615 Pathogenic Hemoglobinopathy No Assertion Criteria Provided
 CA125357 rs_33924775

1 SubmittersRCV000016756
NM_000518.5(HBB):c.271G>T (p.Glu91Ter) SNV
Germline		 Chr11:5226621 Pathogenic Beta zero thalassemia
beta Thalassemia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125368 rs_33913712

5 SubmittersRCV000016766RCV001078368RCV003556031
NM_000518.5(HBB):c.316-1G>C SNV
Germline		 Chr11:5225727 Pathogenic Beta zero thalassemia
beta Thalassemia
Condition: not provided		 Criteria Provided
Single Submitter
 CA217112854 rs_33952266

3 SubmittersRCV000016774RCV001078268RCV001800306
NM_000518.5(HBB):c.344T>C (p.Leu115Pro) SNV
Germline		 Chr11:5225698 Pathogenic/Likely pathogenic Beta thalassemia intermedia
HEMOGLOBIN DURHAM-N.C.
HEMOGLOBIN BRESCIA
Condition: not provided
Dominant beta-thalassemia
beta Thalassemia
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125376 rs_36015961

7 SubmittersRCV000016775RCV000016777RCV000016776RCV000759070RCV001731305RCV001826469RCV005049375
NM_000518.5(HBB):c.-140C>T SNV
Germline		 Chr11:5227161 Pathogenic/Likely pathogenic BETA-PLUS-THALASSEMIA
beta Thalassemia
Beta thalassemia intermedia
Condition: not provided
HBB-related disorder
Beta-thalassemia HBB/LCRB
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125377 rs_34999973

14 SubmittersRCV000016778RCV000029954RCV000202364RCV001069376RCV002260510RCV002288506RCV005049376
NM_000518.5(HBB):c.3G>A (p.Met1Ile) SNV
Germline		 Chr11:5227019 Pathogenic Beta zero thalassemia
Condition: not provided
beta Thalassemia
not specified
Dominant beta-thalassemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125383 rs_33930702

6 SubmittersRCV000016783RCV000508308RCV001078376RCV000506641RCV002222353
NM_000518.5(HBB):c.347C>A (p.Ala116Asp) SNV
Germline		 Chr11:5225695 Pathogenic Hemoglobinopathy
Dominant beta-thalassemia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125396 rs_35485099

3 SubmittersRCV000016791RCV005417433RCV002284172
NM_000518.4(HBB):c.98T>A (p.Leu33Gln) SNV
Germline		 Chr11:5226794 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA037802 rs_33948578

1 SubmittersRCV001811076
NM_000518.4(HBB):c.202G>A (p.Val68Met) SNV
Germline		 Chr11:5226690 Pathogenic HEMOGLOBIN BRISTOL
HEMOGLOBIN ALESHA
Condition: not provided
Hemoglobinopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA124768 rs_36008922

3 SubmittersRCV000016276RCV000016801RCV004998096RCV005055517
NM_000518.4(HBB):c.383A>G (p.Gln128Arg) SNV
Germline		 Chr11:5225659 Pathogenic; other HEMOGLOBIN DIEPPE
beta Thalassemia		 No Assertion Criteria Provided
 CA125414 rs_33910569

2 SubmittersRCV000016802RCV001078371
NM_000518.4(HBB):c.422C>T (p.Ala141Val) SNV
Germline		 Chr11:5225620 Pathogenic HEMOGLOBIN PUTTELANGE
Hemoglobinopathy		 Criteria Provided
Single Submitter
 CA125422 rs_33927093

2 SubmittersRCV000016811RCV003234910
NM_000518.4(HBB):c.137T>G (p.Phe46Cys) SNV
Germline		 Chr11:5226755 Likely pathogenic HEMOGLOBIN ARTA
8 conditions		 Criteria Provided
Single Submitter
 CA125424 rs_33978338

2 SubmittersRCV000016812RCV005049377
NM_000518.4(HBB):c.80A>G (p.Glu27Gly) SNV
Germline		 Chr11:5226942 Pathogenic - No Assertion Criteria Provided
 CA125438 rs_33915112

1 SubmittersRCV000016820
NM_000518.5(HBB):c.93-2A>G SNV
Germline		 Chr11:5226801 Pathogenic Beta zero thalassemia
beta Thalassemia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217114698 rs_63750513

4 SubmittersRCV000016828RCV000988481RCV003476900
NM_000518.4(HBB):c.110C>A (p.Pro37His) SNV
Germline		 Chr11:5226782 Conflicting classifications of pathogenicity HEMOGLOBIN VILA REAL
Erythrocytosis, familial, 6
Hypertrophic cardiomyopathy 26		 Criteria Provided
Conflicting Classifications
 CA125480 rs_33993004

3 SubmittersRCV000016845RCV001029750RCV003886362
NM_000518.5(HBB):c.-151C>G SNV
Germline		 Chr11:5227172 Pathogenic BETA-PLUS-THALASSEMIA
8 conditions		 Criteria Provided
Single Submitter
 CA934688346 rs_63751208

2 SubmittersRCV000016853RCV005049379
NM_000518.4(HBB):c.404T>C (p.Val135Ala) SNV
Germline		 Chr11:5225638 Conflicting classifications of pathogenicity HEMOGLOBIN YAOUNDE
Condition: not provided
not specified
beta Thalassemia		 Criteria Provided
Conflicting Classifications
 CA125496 rs_33966761

6 SubmittersRCV000016855RCV000588829RCV000855596RCV001835629
NM_000518.4(HBB):c.149C>G (p.Ser50Cys) SNV
Germline		 Chr11:5226743 Conflicting classifications of pathogenicity HEMOGLOBIN COLIMA
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA125514 rs_33960931

3 SubmittersRCV000016869RCV003476901
NM_000518.4(HBB):c.292C>A (p.His98Asn) SNV
Germline		 Chr11:5226600 Likely pathogenic HEMOGLOBIN SANTA CLARA
Condition: not provided		 Criteria Provided
Single Submitter
 CA125523 rs_33950993

2 SubmittersRCV000016874RCV006449931
NM_000518.5(HBB):c.205C>T (p.Leu69Phe) SNV
Germline		 Chr11:5226687 Pathogenic/Likely pathogenic HEMOGLOBIN ROCKFORD
9 conditions
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125530 rs_33961459

3 SubmittersRCV000016880RCV002482878RCV001811167
NM_000518.5(HBB):c.*110T>A SNV
Germline		 Chr11:5225488 Pathogenic BETA-PLUS-THALASSEMIA
Condition: not provided		 Criteria Provided
Single Submitter
 CA217112088 rs_33978907

2 SubmittersRCV000016883RCV006258924
NM_000518.5(HBB):c.316-2A>C SNV
Germline		 Chr11:5225728 Pathogenic Beta zero thalassemia
beta Thalassemia
Condition: not provided
Beta-thalassemia major		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341710 rs_33914668

8 SubmittersRCV000016702RCV000020335RCV000507767RCV001290616
NM_000518.5(HBB):c.316-2A>G SNV
Germline		 Chr11:5225728 Pathogenic Beta zero thalassemia
beta Thalassemia
Condition: not provided
Hb SS disease
9 conditions
8 conditions
Thymoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341711 rs_33914668

14 SubmittersRCV000016701RCV000020336RCV000508360RCV001004562RCV002504815RCV003389313RCV005887591
NM_000518.5(HBB):c.359G>A (p.Gly120Asp) SNV
Germline		 Chr11:5225683 Conflicting classifications of pathogenicity Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA037352 rs_33947020

5 SubmittersRCV000588047RCV004586649
NC_000011.10:g.5227154C>T SNV
Germline		 Chr11:5227154 Conflicting classifications of pathogenicity beta Thalassemia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA342841 rs_72561473

5 SubmittersRCV000029947RCV000861030
NM_000518.4(HBB):c.-136C>T SNV
Germline		 Chr11:5227157 Pathogenic/Likely pathogenic beta Thalassemia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342842 rs_33994806

2 SubmittersRCV000029949RCV004998111
NM_000518.5(HBB):c.-137C>A SNV
Germline		 Chr11:5227158 Pathogenic beta Thalassemia
Condition: not provided
9 conditions
Beta thalassemia intermedia
Beta-thalassemia HBB/LCRB
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA213883 rs_33941377

8 SubmittersRCV000445644RCV000506877RCV000763257RCV001797592RCV005430466RCV005003404
NM_000518.5(HBB):c.-137C>T SNV
Germline		 Chr11:5227158 Pathogenic/Likely pathogenic beta Thalassemia
Hb SS disease
Condition: not provided
Beta thalassemia intermedia
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA213884 rs_33941377

7 SubmittersRCV000445650RCV001004365RCV001379381RCV003317048RCV005049386
NM_000518.5(HBB):c.-31C>T SNV
Germline		 Chr11:5227052 Conflicting classifications of pathogenicity beta Thalassemia
Condition: not provided
Hb SS disease
Hemoglobin E
Fetal hemoglobin quantitative trait locus 1
not specified
Dominant beta-thalassemia
8 conditions
HBB-related disorder		 Criteria Provided
Conflicting Classifications
 CA342844 rs_63750628

9 SubmittersRCV000029956RCV000755548RCV001104361RCV001104363RCV001104362RCV001420720RCV002272029RCV005049387RCV004732554
NM_000518.5(HBB):c.-50A>C SNV
Germline		 Chr11:5227071 Pathogenic/Likely pathogenic beta Thalassemia
Condition: not provided
BETA-PLUS-THALASSEMIA
8 conditions
Beta-thalassemia HBB/LCRB		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342845 rs_34305195

8 SubmittersRCV000029957RCV000508619RCV001838527RCV005049388RCV005430467
NM_000518.5(HBB):c.-51T>C SNV
Germline		 Chr11:5227072 Conflicting classifications of pathogenicity not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA342846 rs_386134236

3 SubmittersRCV000781449RCV002477022
NM_000518.5(HBB):c.-75G>C SNV
Germline		 Chr11:5227096 Conflicting classifications of pathogenicity not specified
Condition: not provided
beta Thalassemia
HBB-related disorder
8 conditions
Beta-thalassemia HBB/LCRB		 Criteria Provided
Conflicting Classifications
 CA342847 rs_63750400

6 SubmittersRCV000029959RCV000508639RCV000984184RCV004532418RCV005049389RCV005430468
NC_000011.10:g.5227113G>C SNV
Germline		 Chr11:5227113 Conflicting classifications of pathogenicity beta Thalassemia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA342848 rs_397515291

5 SubmittersRCV000029963RCV000759806
NM_000518.5(HBB):c.2T>C (p.Met1Thr) SNV
Germline		 Chr11:5227020 Pathogenic BETA-THALASSEMIA, LERMONTOV TYPE
Beta zero thalassemia
beta Thalassemia
Condition: not provided
Beta-thalassemia HBB/LCRB
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA125301 rs_33941849

10 SubmittersRCV000016693RCV000016692RCV000029976RCV000508042RCV002465492RCV005049390
NM_000518.5(HBB):c.316-146T>G SNV
Germline		 Chr11:5225872 Pathogenic BETA-PLUS-THALASSEMIA
beta Thalassemia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA213888 rs_35328027

5 SubmittersRCV000016714RCV000029979RCV000985748
NM_000518.5(HBB):c.316-14T>G SNV
Germline		 Chr11:5225740 Pathogenic/Likely pathogenic beta Thalassemia
Condition: not provided
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342858 rs_35703285

10 SubmittersRCV000029980RCV000759066RCV005049391
NM_000518.5(HBB):c.316-30A>C SNV
Germline		 Chr11:5225756 Conflicting classifications of pathogenicity not specified
Condition: not provided
Beta-thalassemia HBB/LCRB
8 conditions		 Criteria Provided
Conflicting Classifications
 CA342862 rs_193922558

5 SubmittersRCV000029985RCV000931066RCV003333728RCV005049392
NM_000518.5(HBB):c.316-96G>C SNV
Germline		 Chr11:5225822 Conflicting classifications of pathogenicity not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA342865 rs_193922561

3 SubmittersRCV000507852RCV000874728
NM_000518.5(HBB):c.324C>T (p.Gly108=) SNV
Germline		 Chr11:5225718 Conflicting classifications of pathogenicity not specified
Condition: not provided
Fetal hemoglobin quantitative trait locus 1
beta Thalassemia
Hemoglobin E
Hb SS disease
8 conditions
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA342866 rs_193922562

8 SubmittersRCV000507146RCV000759069RCV001103966RCV001103967RCV001103968RCV001103969RCV005049393RCV005572269
NM_000518.5(HBB):c.353A>G (p.His118Arg) SNV
Germline		 Chr11:5225689 Conflicting classifications of pathogenicity Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA342868 rs_33935673

3 SubmittersRCV000586298RCV002222359
NM_000518.5(HBB):c.402G>C (p.Val134=) SNV
Germline		 Chr11:5225640 Conflicting classifications of pathogenicity beta Thalassemia
Condition: not provided
Fetal hemoglobin quantitative trait locus 1
Hb SS disease
Hemoglobin E
Inborn genetic diseases
HBB-related disorder		 Criteria Provided
Conflicting Classifications
 CA342870 rs_113082294

9 SubmittersRCV000029995RCV000860902RCV001107580RCV001107582RCV001107581RCV002354172RCV004532419
NM_000518.5(HBB):c.*96T>C SNV
Germline		 Chr11:5225502 Conflicting classifications of pathogenicity beta Thalassemia
Condition: not provided
HBB-related disorder		 Criteria Provided
Conflicting Classifications
 CA342875 rs_34029390

9 SubmittersRCV000029999RCV000755281RCV004541025
NM_000518.5(HBB):c.*110T>C SNV
Germline		 Chr11:5225488 Pathogenic BETA-PLUS-THALASSEMIA
beta Thalassemia
Condition: not provided
Hb SS disease
Beta-thalassemia HBB/LCRB
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA213889 rs_33978907

15 SubmittersRCV000016730RCV000445649RCV000506540RCV001004557RCV004566754RCV005049394
NM_000518.5(HBB):c.92+2T>C SNV
Germline		 Chr11:5226928 Pathogenic beta Thalassemia
Condition: not provided
9 conditions
Beta zero thalassemia
Nonpapillary renal cell carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342876 rs_33956879

9 SubmittersRCV000030003RCV000506748RCV002496456RCV003991531RCV005888729
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) SNV
Germline		 Chr11:5226930 Likely pathogenic beta Thalassemia
Condition: not provided
Beta-thalassemia HBB/LCRB
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342877 rs_33960103

8 SubmittersRCV000030006RCV000506003RCV005430110RCV005049395
NM_000518.5(HBB):c.93-23T>C SNV
Germline		 Chr11:5226822 Conflicting classifications of pathogenicity beta Thalassemia
Condition: not provided
Beta-thalassemia HBB/LCRB
HBB-related disorder		 Criteria Provided
Conflicting Classifications
 CA342879 rs_111851677

8 SubmittersRCV000030010RCV000860961RCV003323278RCV004532420
NM_000518.5(HBB):c.93-3T>G SNV
Germline		 Chr11:5226802 Pathogenic/Likely pathogenic BETA-PLUS-THALASSEMIA
beta Thalassemia
Beta thalassemia intermedia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342880 rs_34527846

8 SubmittersRCV000016710RCV000030011RCV002222330RCV002477023
NM_000518.5(HBB):c.48G>A (p.Trp16Ter) SNV
Germline		 Chr11:5226974 Pathogenic Condition: not provided
beta Thalassemia
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217115390 rs_34716011

11 SubmittersRCV000508624RCV000589075RCV005049397
NM_000518.5(HBB):c.79G>T (p.Glu27Ter) SNV
Germline		 Chr11:5226943 Pathogenic Condition: not provided
beta Thalassemia
Hemoglobinopathy
Beta-thalassemia HBB/LCRB		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217115188 rs_33950507

7 SubmittersRCV000507549RCV000674991RCV000781460RCV005430471
NM_000518.5(HBB):c.92+2T>A SNV
Germline		 Chr11:5226928 Pathogenic Beta zero thalassemia
Condition: not provided
beta Thalassemia
Beta-thalassemia HBB/LCRB		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217115033 rs_33956879

8 SubmittersRCV000016739RCV000506130RCV000665219RCV005430111
NM_000518.5(HBB):c.316-1G>T SNV
Germline		 Chr11:5225727 Likely pathogenic Condition: not provided
beta Thalassemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217112852 rs_33952266

3 SubmittersRCV000506832RCV001078269
NM_000518.5(HBB):c.90C>T (p.Gly30=) SNV
Germline		 Chr11:5226932 Conflicting classifications of pathogenicity Condition: not provided
beta Thalassemia		 Criteria Provided
Conflicting Classifications
 CA5839812 rs_35578002

7 SubmittersRCV001269729RCV000588766
NM_000518.5(HBB):c.315+1G>C SNV
Germline		 Chr11:5226576 Pathogenic beta Thalassemia
Condition: not provided		 Criteria Provided
Single Submitter
 CA346836 rs_33945777

3 SubmittersRCV000169544RCV001850405
NM_000518.5(HBB):c.*6C>G SNV
Germline		 Chr11:5225592 Pathogenic/Likely pathogenic beta Thalassemia
Beta thalassemia intermedia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16609382 rs_34809925

4 SubmittersRCV000445641RCV002265766RCV002522737
NM_000518.5(HBB):c.316-7C>G SNV
Germline		 Chr11:5225733 Conflicting classifications of pathogenicity beta Thalassemia
not specified
Condition: not provided
Beta-thalassemia HBB/LCRB		 Criteria Provided
Conflicting Classifications
 CA16609383 rs_34483965

5 SubmittersRCV000445651RCV000781440RCV001284152RCV005430354
NM_000518.5(HBB):c.-18C>G SNV
Germline		 Chr11:5227039 Pathogenic beta Thalassemia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16609384 rs_34135787

3 SubmittersRCV000445652RCV002522736
NM_000518.5(HBB):c.-29G>A SNV
Germline		 Chr11:5227050 Pathogenic beta Thalassemia
Hemoglobinopathy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16609385 rs_34704828

6 SubmittersRCV000445640RCV000781439RCV002522735
NM_000518.5(HBB):c.-138C>A SNV
Germline		 Chr11:5227159 Pathogenic/Likely pathogenic BETA-PLUS-THALASSEMIA
beta Thalassemia
Condition: not provided
Hemoglobinopathy
9 conditions
not specified
Beta-thalassemia HBB/LCRB		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16609387 rs_33944208

12 SubmittersRCV000016721RCV000445645RCV000505872RCV000781451RCV000762846RCV003488595RCV005430536
NM_000518.5(HBB):c.*132C>T SNV
Germline		 Chr11:5225466 Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA645509055 rs_1420779550

2 SubmittersRCV002524902
NM_000518.5(HBB):c.394C>G (p.Gln132Glu) SNV
Germline		 Chr11:5225648 Conflicting classifications of pathogenicity not specified
Condition: not provided
HEMOGLOBIN CAMDEN
HEMOGLOBIN MOTOWN
HEMOGLOBIN TOKUCHI		 Criteria Provided
Conflicting Classifications
 CA217112422 rs_33910209

4 SubmittersRCV000507699RCV001281709RCV002280781RCV002280782RCV002280783
NM_000518.5(HBB):c.316-107G>C SNV
Germline		 Chr11:5225833 Conflicting classifications of pathogenicity not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA217112959 rs_930802593

3 SubmittersRCV000507232RCV002524903
NM_000518.5(HBB):c.316-125A>G SNV
Germline		 Chr11:5225851 Conflicting classifications of pathogenicity Condition: not provided
beta Thalassemia
not specified
HBB-related disorder		 Criteria Provided
Conflicting Classifications
 CA217112977 rs_63751175

9 SubmittersRCV000508509RCV001078266RCV001281704RCV004541579
NM_000518.5(HBB):c.316-156T>C SNV
Germline		 Chr11:5225882 Conflicting classifications of pathogenicity not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA645509059 rs_1164871363

2 SubmittersRCV000506741RCV002056899
NM_000518.5(HBB):c.316-177A>G SNV
Germline		 Chr11:5225903 Conflicting classifications of pathogenicity not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA597217543 rs_964085975

2 SubmittersRCV000507329RCV003736798
NM_000518.5(HBB):c.315+2T>G SNV
Germline		 Chr11:5226575 Likely pathogenic Condition: not provided
beta Thalassemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA379273758 rs_63750283

3 SubmittersRCV000506362RCV001078426
NM_000518.5(HBB):c.274C>T (p.Leu92=) SNV
Germline		 Chr11:5226618 Conflicting classifications of pathogenicity not specified
Condition: not provided
beta Thalassemia
Hb SS disease
Fetal hemoglobin quantitative trait locus 1
Hemoglobin E
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA5839740 rs_769583496

6 SubmittersRCV000507587RCV000756242RCV001104257RCV001104258RCV001104255RCV001104256RCV004629226
NM_000518.5(HBB):c.93-1G>C SNV
Germline		 Chr11:5226800 Pathogenic Beta zero thalassemia
beta Thalassemia
Condition: not provided
Beta-thalassemia major
Beta-thalassemia HBB/LCRB		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5839768 rs_33943001

10 SubmittersRCV000016769RCV001078336RCV000506434RCV001375484RCV004689769
NM_000518.5(HBB):c.93-2A>C SNV
Germline		 Chr11:5226801 Pathogenic Condition: not provided
Hemoglobinopathy
beta Thalassemia
Beta-thalassemia HBB/LCRB		 Criteria Provided
Multiple Submitters
No Conflicts
 CA379274661 rs_63750513

5 SubmittersRCV000507399RCV000780315RCV001078337RCV004696927
NM_000518.5(HBB):c.33C>A (p.Ala11=) SNV
Germline		 Chr11:5226989 Conflicting classifications of pathogenicity Condition: not provided
beta Thalassemia
Inborn genetic diseases
HBB-related disorder		 Criteria Provided
Conflicting Classifications
 CA5839818 rs_35799536

8 SubmittersRCV000757356RCV001374655RCV002455977RCV004535634
NM_000518.5(HBB):c.31G>A (p.Ala11Thr) SNV
Germline		 Chr11:5226991 Conflicting classifications of pathogenicity not specified Criteria Provided
Conflicting Classifications
 CA217115444 rs_63750717

2 SubmittersRCV000507628
NM_000518.5(HBB):c.1A>G (p.Met1Val) SNV
Germline		 Chr11:5227021 Pathogenic Condition: not provided
Hemoglobinopathy
beta Thalassemia
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217115654 rs_34563000

6 SubmittersRCV000507448RCV000780324RCV001078261RCV005049575
NM_000518.5(HBB):c.-82C>T SNV
Germline		 Chr11:5227103 Conflicting classifications of pathogenicity Condition: not provided
not specified
beta Thalassemia
HBB-related disorder
8 conditions		 Criteria Provided
Conflicting Classifications
 CA217115785 rs_34500389

7 SubmittersRCV000507303RCV000855594RCV001078343RCV004732913RCV005049577
NM_000518.5(HBB):c.294C>T (p.His98=) SNV
Germline		 Chr11:5226598 Conflicting classifications of pathogenicity not specified
Condition: not provided
Fetal hemoglobin quantitative trait locus 1
beta Thalassemia
Hemoglobin E
Hb SS disease
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA5839738 rs_34515413

7 SubmittersRCV000506063RCV000585933RCV001103971RCV001103970RCV001103972RCV001104254RCV003159645
NM_000518.5(HBB):c.246C>A (p.Leu82=) SNV
Germline		 Chr11:5226646 Conflicting classifications of pathogenicity not specified
Condition: not provided
beta Thalassemia
Hemoglobin E
Hb SS disease
Fetal hemoglobin quantitative trait locus 1		 Criteria Provided
Conflicting Classifications
 CA5839741 rs_145669504

6 SubmittersRCV000505921RCV000759796RCV001104259RCV001104260RCV001104261RCV001107021
NM_000518.5(HBB):c.113G>A (p.Trp38Ter) SNV
Germline		 Chr11:5226779 Pathogenic not specified
beta Thalassemia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217114568 rs_33991059

4 SubmittersRCV000506586RCV001078348RCV003558431
NM_000518.5(HBB):c.*56A>G SNV
Germline		 Chr11:5225542 Conflicting classifications of pathogenicity Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA217112125 rs_537944366

4 SubmittersRCV000588701RCV000855595
NM_000518.5(HBB):c.316-189A>G SNV
Germline		 Chr11:5225915 Conflicting classifications of pathogenicity Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA217113016 rs_1034207896

3 SubmittersRCV000588558RCV001260259
NM_000518.5(HBB):c.316-128G>C SNV
Germline		 Chr11:5225854 Conflicting classifications of pathogenicity Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA658683675 rs_1291160651

3 SubmittersRCV000588496RCV005240271
NM_000518.5(HBB):c.2T>A (p.Met1Lys) SNV
Germline		 Chr11:5227020 Pathogenic/Likely pathogenic beta Thalassemia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217115650 rs_33941849

3 SubmittersRCV000588257RCV000985744
NM_000518.5(HBB):c.316-19T>A SNV
Germline		 Chr11:5225745 Conflicting classifications of pathogenicity Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA5839715 rs_191535077

4 SubmittersRCV000590215RCV001293423
NM_000518.5(HBB):c.57G>A (p.Val19=) SNV
Germline		 Chr11:5226965 Conflicting classifications of pathogenicity not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA472885856 rs_1554918177

2 SubmittersRCV000586045RCV000985754
NM_000518.5(HBB):c.-140C>G SNV
Germline		 Chr11:5227161 Conflicting classifications of pathogenicity not specified
beta Thalassemia
Condition: not provided
8 conditions		 Criteria Provided
Conflicting Classifications
 CA658683682 rs_34999973

6 SubmittersRCV000589253RCV001078396RCV005000361RCV005049610
NM_000518.5(HBB):c.316-1G>A SNV
Germline		 Chr11:5225727 Pathogenic/Likely pathogenic beta Thalassemia
Beta zero thalassemia
Condition: not provided
Beta-thalassemia HBB/LCRB		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217112873 rs_33952266

6 SubmittersRCV000668023RCV000736022RCV003558495RCV005430580
NM_000518.5(HBB):c.316-7C>A SNV
Germline		 Chr11:5225733 Conflicting classifications of pathogenicity beta Thalassemia
not specified
Hb SS disease
Condition: not provided
Beta-thalassemia HBB/LCRB		 Criteria Provided
Conflicting Classifications
 CA217112896 rs_34483965

7 SubmittersRCV000667076RCV001000150RCV001004563RCV001283996RCV005430554
NM_000518.5(HBB):c.93-15T>G SNV
Germline		 Chr11:5226814 Pathogenic Beta zero thalassemia
beta Thalassemia
Beta-thalassemia HBB/LCRB
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217114761 rs_35456885

8 SubmittersRCV000016713RCV000665080RCV004568488RCV005422928
NM_000518.5(HBB):c.91A>C (p.Arg31=) SNV
Germline		 Chr11:5226931 Likely pathogenic beta Thalassemia
Condition: not provided
Beta-thalassemia HBB/LCRB		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217115069 rs_35684407

4 SubmittersRCV000721920RCV001284494RCV004689867
NM_000518.5(HBB):c.249G>C (p.Lys83Asn) SNV
Germline		 Chr11:5226643 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA217113764 rs_33991993

1 SubmittersRCV000757358
NM_000518.5(HBB):c.201A>G (p.Lys67=) SNV
Germline		 Chr11:5226691 Conflicting classifications of pathogenicity Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA5839750 rs_36092904

3 SubmittersRCV000759793RCV005240537
NM_000518.5(HBB):c.316-3C>G SNV
Germline		 Chr11:5225729 Likely pathogenic Beta zero thalassemia
Condition: not provided
beta Thalassemia		 Criteria Provided
Single Submitter
 CA217112885 rs_33913413

3 SubmittersRCV000016767RCV000759068RCV001078322
NM_000518.5(HBB):c.315+1G>T SNV
Germline		 Chr11:5226576 Pathogenic beta Thalassemia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217113399 rs_33945777

4 SubmittersRCV001170018RCV000759065
NM_000518.5(HBB):c.93-14T>C SNV
Germline		 Chr11:5226813 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA597436124 rs_1428777319

2 SubmittersRCV000759807
NM_000518.5(HBB):c.92+2T>G SNV
Germline		 Chr11:5226928 Pathogenic Beta zero thalassemia
Condition: not provided
not specified
beta Thalassemia
Nonpapillary renal cell carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217115031 rs_33956879

6 SubmittersRCV000016697RCV000759805RCV001001413RCV001078334RCV005897320
NM_000518.5(HBB):c.436T>A (p.Tyr146Asn) SNV
Germline		 Chr11:5225606 Pathogenic Hemoglobinopathy
Erythrocytosis, familial, 6
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217112211 rs_33949869

3 SubmittersRCV000781441RCV001839458RCV005049690
NM_000518.5(HBB):c.316-179A>C SNV
Germline		 Chr11:5225905 Conflicting classifications of pathogenicity not specified
Condition: not provided
beta Thalassemia		 Criteria Provided
Conflicting Classifications
 CA217113009 rs_185607297

4 SubmittersRCV000780328RCV000937128RCV003315253
NM_000518.5(HBB):c.190C>A (p.His64Asn) SNV
Germline		 Chr11:5226702 Pathogenic HEMOGLOBIN HANA
METHEMOGLOBINEMIA, BETA TYPE		 Criteria Provided
Single Submitter
 CA217114143 rs_33922873

2 SubmittersRCV000855777RCV005208152
NM_000518.5(HBB):c.393T>A (p.Tyr131Ter) SNV
Germline		 Chr11:5225649 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA217112427 rs_281864530

1 SubmittersRCV000985752
NM_000518.5(HBB):c.333G>A (p.Leu111=) SNV
Germline		 Chr11:5225709 Conflicting classifications of pathogenicity Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA472638705 rs_1215164743

3 SubmittersRCV000985751RCV006455306
NM_000518.5(HBB):c.294C>G (p.His98Gln) SNV
Germline		 Chr11:5226598 Pathogenic/Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA217113536 rs_34515413

4 SubmittersRCV000985742
NM_000518.5(HBB):c.120G>C (p.Gln40His) SNV
Germline		 Chr11:5226772 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA217114528 rs_34663314

2 SubmittersRCV000985735
NM_000518.5(HBB):c.316-124A>T SNV
Germline		 Chr11:5225850 Conflicting classifications of pathogenicity Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA597217539 rs_1184042209

3 SubmittersRCV000985746RCV002222650
NM_000518.5(HBB):c.-121C>T SNV
Germline		 Chr11:5227142 Pathogenic/Likely pathogenic Condition: not provided
beta Thalassemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217115815 rs_281864518

5 SubmittersRCV000985736RCV001078347
NM_000518.5(HBB):c.316-12T>C SNV
Germline		 Chr11:5225738 Conflicting classifications of pathogenicity not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5839714 rs_781604042

4 SubmittersRCV001000151RCV001419630
NM_000518.5(HBB):c.51C>T (p.Gly17=) SNV
Germline		 Chr11:5226971 Pathogenic/Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA472885859 rs_370075492

2 SubmittersRCV001811615
NM_000518.5(HBB):c.*108A>G SNV
Germline		 Chr11:5225490 Pathogenic beta Thalassemia No Assertion Criteria Provided
 CA916083171 rs_1847518799

1 SubmittersRCV001078298
NM_000518.5(HBB):c.*32A>C SNV
Germline		 Chr11:5225566 Pathogenic beta Thalassemia No Assertion Criteria Provided
 CA916083172 rs_1847520793

1 SubmittersRCV001078301
NM_000518.5(HBB):c.397A>T (p.Lys133Ter) SNV
Germline		 Chr11:5225645 Pathogenic beta Thalassemia No Assertion Criteria Provided
 CA217112395 rs_33953406

1 SubmittersRCV001078375
NM_000518.5(HBB):c.394C>T (p.Gln132Ter) SNV
Germline		 Chr11:5225648 Pathogenic beta Thalassemia No Assertion Criteria Provided
 CA379273681 rs_33910209

1 SubmittersRCV001078372
NM_000518.5(HBB):c.339T>A (p.Cys113Ter) SNV
Germline		 Chr11:5225703 Pathogenic beta Thalassemia No Assertion Criteria Provided
 CA217112750 rs_33930977

1 SubmittersRCV001078327
NM_000518.5(HBB):c.199A>T (p.Lys67Ter) SNV
Germline		 Chr11:5226693 Pathogenic beta Thalassemia No Assertion Criteria Provided
 CA379273874 rs_34165323

1 SubmittersRCV001078258
NM_000518.5(HBB):c.178A>T (p.Lys60Ter) SNV
Germline		 Chr11:5226714 Pathogenic beta Thalassemia No Assertion Criteria Provided
 CA217114202 rs_33969400

1 SubmittersRCV001078251
NM_000518.5(HBB):c.108C>G (p.Tyr36Ter) SNV
Germline		 Chr11:5226784 Pathogenic beta Thalassemia No Assertion Criteria Provided
 CA379274598 rs_33982568

1 SubmittersRCV001078305
NM_000518.5(HBB):c.107A>G (p.Tyr36Cys) SNV
Germline		 Chr11:5226785 Pathogenic beta Thalassemia No Assertion Criteria Provided
 CA379274600 rs_35857380

1 SubmittersRCV001078303
NM_000518.5(HBB):c.93G>C (p.Arg31Ser) SNV
Germline		 Chr11:5226799 Pathogenic beta Thalassemia No Assertion Criteria Provided
 CA217114684 rs_1135071

1 SubmittersRCV001078384
NM_000518.5(HBB):c.91A>G (p.Arg31Gly) SNV
Germline		 Chr11:5226931 Pathogenic beta Thalassemia
Condition: not provided		 Criteria Provided
Single Submitter
 CA217115065 rs_35684407

2 SubmittersRCV001078278RCV005232121
NM_000518.5(HBB):c.67G>T (p.Glu23Ter) SNV
Germline		 Chr11:5226955 Pathogenic beta Thalassemia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217115260 rs_33959855

3 SubmittersRCV001078431RCV001862655
NM_000518.5(HBB):c.22G>T (p.Glu8Ter) SNV
Germline		 Chr11:5227000 Pathogenic beta Thalassemia
Condition: not provided		 Criteria Provided
Single Submitter
 CA379274972 rs_34948328

2 SubmittersRCV001078316RCV003478695
NM_000518.5(HBB):c.19G>T (p.Glu7Ter) SNV
Germline		 Chr11:5227003 Pathogenic beta Thalassemia No Assertion Criteria Provided
 CA379274985 rs_33930165

1 SubmittersRCV001078259
NM_000518.5(HBB):c.3G>T (p.Met1Ile) SNV
Germline		 Chr11:5227019 Likely pathogenic beta Thalassemia
Condition: not provided		 Criteria Provided
Single Submitter
 CA217115639 rs_33930702

2 SubmittersRCV001078378RCV004998643
NM_000518.5(HBB):c.3G>C (p.Met1Ile) SNV
Germline		 Chr11:5227019 Pathogenic beta Thalassemia No Assertion Criteria Provided
 CA217115643 rs_33930702

1 SubmittersRCV001078377
NM_000518.5(HBB):c.1A>C (p.Met1Leu) SNV
Germline		 Chr11:5227021 Pathogenic/Likely pathogenic beta Thalassemia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA379275050 rs_34563000

3 SubmittersRCV001078260RCV001811644
NC_000011.10:g.5227096C>A SNV
Germline		 Chr11:5227096 Pathogenic beta Thalassemia No Assertion Criteria Provided
 CA916083229 rs_63750400

1 SubmittersRCV001078295
NC_000011.10:g.5227097T>G SNV
Germline		 Chr11:5227097 Pathogenic beta Thalassemia No Assertion Criteria Provided
 CA217115748 rs_281864525

1 SubmittersRCV001078338
NC_000011.10:g.5227098T>A SNV
Germline		 Chr11:5227098 Pathogenic beta Thalassemia No Assertion Criteria Provided
 CA916083230 rs_1847591425

1 SubmittersRCV001078339
NM_000518.5(HBB):c.-79A>C SNV
Germline		 Chr11:5227100 Pathogenic beta Thalassemia
Condition: not provided		 Criteria Provided
Single Submitter
 CA916083231 rs_34598529

3 SubmittersRCV001078340RCV003478696
NC_000011.10:g.5227101A>C SNV
Germline		 Chr11:5227101 Pathogenic beta Thalassemia No Assertion Criteria Provided
 CA217115768 rs_33980857

1 SubmittersRCV001078341
NM_000518.5(HBB):c.-80T>C SNV
Germline		 Chr11:5227101 Pathogenic BETA-PLUS-THALASSEMIA
beta Thalassemia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217115773 rs_33980857

4 SubmittersRCV000016726RCV001078342RCV001284493
NM_000518.5(HBB):c.-122T>A SNV
Germline		 Chr11:5227143 Conflicting classifications of pathogenicity beta Thalassemia
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA677538286 rs_1272414751

5 SubmittersRCV001078393RCV001824922RCV003478697
NC_000011.10:g.5227147G>T SNV
Germline		 Chr11:5227147 Pathogenic beta Thalassemia No Assertion Criteria Provided
 CA916083233 rs_1847592435

1 SubmittersRCV001078394
NM_000518.5(HBB):c.315+5G>C SNV
Germline		 Chr11:5226572 Pathogenic beta Thalassemia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA217113381 rs_35099082

3 SubmittersRCV001078427RCV003327489
NM_000518.5(HBB):c.315+2T>C SNV
Germline		 Chr11:5226575 Pathogenic beta Thalassemia No Assertion Criteria Provided
 CA217113386 rs_63750283

1 SubmittersRCV001078425
NM_000518.5(HBB):c.92+1G>C SNV
Germline		 Chr11:5226929 Pathogenic beta Thalassemia No Assertion Criteria Provided
 CA379274739 rs_33971440

1 SubmittersRCV001078281
NM_000518.5(HBB):c.85C>T (p.Leu29=) SNV
Germline		 Chr11:5226937 Conflicting classifications of pathogenicity beta Thalassemia
Fetal hemoglobin quantitative trait locus 1
Hemoglobin E
Hb SS disease
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA217115132 rs_33958088

3 SubmittersRCV001107681RCV001107680RCV001107682RCV001107683RCV001174809RCV002069760
NM_000518.5(HBB):c.300T>A (p.Asp100Glu) SNV
Germline		 Chr11:5226592 Conflicting classifications of pathogenicity Erythrocytosis, familial, 6
not specified		 Criteria Provided
Conflicting Classifications
 CA217113480 rs_34013622

2 SubmittersRCV001175128RCV003226436
NM_000518.5(HBB):c.316-85A>G SNV
Germline		 Chr11:5225811 Conflicting classifications of pathogenicity not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1139661790 rs_1847534399

3 SubmittersRCV001264464RCV002069381
NC_000011.10:g.5227153C>A SNV
Germline		 Chr11:5227153 Conflicting classifications of pathogenicity not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA217115816 rs_887821047

2 SubmittersRCV001269247RCV001812269
NM_000518.5(HBB):c.316-210T>A SNV
Germline		 Chr11:5225936 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA1139661792 rs_1847537565

2 SubmittersRCV001283995
NM_000518.5(HBB):c.255C>A (p.Thr85=) SNV
Germline		 Chr11:5226637 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA472885734 rs_1334966870

2 SubmittersRCV001283989
NM_000518.5(HBB):c.*74A>G SNV
Germline		 Chr11:5225524 Conflicting classifications of pathogenicity not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA217112107 rs_369101035

3 SubmittersRCV001293509RCV001812924
NM_000518.5(HBB):c.196A>T (p.Lys66Ter) SNV
Germline		 Chr11:5226696 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA379273878 rs_35353749

1 SubmittersRCV001388315
NM_000518.5(HBB):c.60C>T (p.Asn20=) SNV
Germline		 Chr11:5226962 Conflicting classifications of pathogenicity Condition: not provided
beta Thalassemia
not specified		 Criteria Provided
Conflicting Classifications
 CA5839815 rs_63750840

4 SubmittersRCV001400263RCV001836395RCV005237782
NM_000518.5(HBB):c.316-148G>C SNV
Germline		 Chr11:5225874 Conflicting classifications of pathogenicity Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA1949565817 rs_1847536038

3 SubmittersRCV001457425RCV005237831
NM_000518.5(HBB):c.316-100T>A SNV
Germline		 Chr11:5225826 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA2499221003 rs_1847534694

2 SubmittersRCV001489014
NM_000518.5(HBB):c.10C>G (p.Leu4Val) SNV
Germline		 Chr11:5227012 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA217115584 rs_34126315

2 SubmittersRCV001801051
NM_000518.5(HBB):c.108C>T (p.Tyr36=) SNV
Germline		 Chr11:5226784 Conflicting classifications of pathogenicity Condition: not provided
8 conditions
not specified		 Criteria Provided
Conflicting Classifications
 CA5839763 rs_33982568

4 SubmittersRCV002182367RCV005050534RCV005419327
NM_000518.5(HBB):c.92+8T>C SNV
Germline		 Chr11:5226922 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA217114994 rs_374373297

2 SubmittersRCV002169972
NM_000518.5(HBB):c.316-141G>A SNV
Germline		 Chr11:5225867 Conflicting classifications of pathogenicity Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA217112988 rs_1011427406

3 SubmittersRCV002210281RCV003317576
NC_000011.10:g.5227261C>T SNV
Germline		 Chr11:5227261 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA217117135 rs_753344875

2 SubmittersRCV002211175
NM_000518.5(HBB):c.382C>T (p.Gln128Ter) SNV
Germline		 Chr11:5225660 Pathogenic Dominant beta-thalassemia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5839696 rs_33971634

2 SubmittersRCV003226537RCV003478957
NM_000518.5(HBB):c.93-38G>A SNV
Germline		 Chr11:5226837 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA217114862 rs_370724350

2 SubmittersRCV003010423
NM_000518.4(HBB):c.-136C>A SNV
Germline		 Chr11:5227157 Likely pathogenic beta Thalassemia Criteria Provided
Single Submitter
 CA217115830 rs_33994806

1 SubmittersRCV003236443
NM_000518.5(HBB):c.279C>G (p.His93Gln) SNV
Germline		 Chr11:5226613 Likely pathogenic Beta-thalassemia HBB/LCRB Criteria Provided
Single Submitter
 CA217113620 rs_34083951

1 SubmittersRCV003447721
NM_000518.5(HBB):c.24G>A (p.Glu8=) SNV
Germline		 Chr11:5226998 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA5839820 rs_138405215

2 SubmittersRCV003477276
NM_000518.5(HBB):c.316-179A>T SNV
Germline		 Chr11:5225905 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA2697548375 rs_185607297

2 SubmittersRCV003477280
NM_000518.5(HBB):c.323G>A (p.Gly108Asp) SNV
Germline		 Chr11:5225719 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA217112823 rs_35519485

1 SubmittersRCV003557551
NM_000518.5(HBB):c.327C>G (p.Asn109Lys) SNV
Germline		 Chr11:5225715 Likely pathogenic beta Thalassemia
Condition: not provided
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV004690867RCV005000574RCV005051468
NM_000518.5(HBB):c.160G>A (p.Ala54Thr) SNV
Germline		 Chr11:5226732 Likely pathogenic 8 conditions Criteria Provided
Single Submitter

1 SubmittersRCV005050240
NM_000518.5(HBB):c.294C>A (p.His98Gln) SNV
Germline		 Chr11:5226598 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005234182
NM_000518.5(HBB):c.92G>T (p.Arg31Met) SNV
Germline		 Chr11:5226930 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005234622
NM_000518.5(HBB):c.82G>A (p.Ala28Thr) SNV
Germline		 Chr11:5226940 Likely pathogenic Beta-thalassemia HBB/LCRB No Assertion Criteria Provided

1 SubmittersRCV005621839
NM_000518.5(HBB):c.290T>G (p.Leu97Arg) SNV
Germline		 Chr11:5226602 Pathogenic Malaria, susceptibility to Criteria Provided
Single Submitter

1 SubmittersRCV005860985
NM_000518.5(HBB):c.127T>A (p.Phe43Ile) SNV
Germline		 Chr11:5226765 Likely pathogenic beta Thalassemia No Assertion Criteria Provided

1 SubmittersRCV006597605