Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
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 Beta-thalassemia HBB/LCRB Inborn genetic diseases Hereditary persistence of fetal hemoglobin Sickle cell-hemoglobin C disease HBB-related disorder Inherited hemoglobinopathy alpha Thalassemia Dominant beta-thalassemia Beta-thalassemia HBB/LCRB Heinz body anemia Hb SS disease 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA124780	rs_33930165	33 SubmittersRCV000016284 RCV000016285 RCV000202507 RCV000224028 RCV000576347 RCV001535943 RCV001813746 RCV002288494 RCV002415418 RCV003137529 RCV003150807 RCV003335041 RCV004017254 RCV005357128 RCV005049343
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 beta Thalassemia Hb SS disease Fetal hemoglobin quantitative trait locus 1 Dominant beta-thalassemia not specified Hb SS disease Fetal hemoglobin quantitative trait locus 1 Hemoglobin E 9 conditions 8 conditions Hemoglobinopathy Hb SS disease Heinz body anemia Beta-thalassemia HBB/LCRB alpha Thalassemia Dominant beta-thalassemia	Criteria Provided Conflicting Classifications	CA124797	rs_33947415	16 SubmittersRCV000016301 RCV000396079 RCV000587680 RCV000709890 RCV000855646 RCV001004567 RCV001107023 RCV001107022 RCV001535933 RCV005049344 RCV005417430 RCV005364880
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	19 SubmittersRCV000016317 RCV000029994 RCV000202465 RCV000723826 RCV000778329 RCV001175348 RCV002247348 RCV005049345 RCV005229799
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 not specified Condition: not provided beta Thalassemia Hemoglobin E disease Anemia 9 conditions Beta-thalassemia HBB/LCRB Inborn genetic diseases Malaria, susceptibility to HBB-related disorder 8 conditions 7 conditions Hereditary persistence of fetal hemoglobin Hemoglobin E/beta- thalassemia alpha Thalassemia Dominant beta-thalassemia Beta-thalassemia HBB/LCRB Heinz body anemia Hb SS disease	Criteria Provided Multiple Submitters No Conflicts	CA124838	rs_33950507	34 SubmittersRCV000016329 RCV000016330 RCV000016331 RCV000016332 RCV000202534 RCV000506024 RCV000521111 RCV000496072 RCV000778330 RCV000853358 RCV001536065 RCV002288495 RCV002415419 RCV003989105 RCV004532365 RCV004795418 RCV005222686 RCV005229800 RCV005252683 RCV005357129
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 Beta-thalassemia HBB/LCRB Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA124914	rs_33949486	7 SubmittersRCV000016385 RCV000029996 RCV001004558 RCV001284489 RCV002290955 RCV002321485
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	18 SubmittersRCV000016432 RCV000506942 RCV001004351 RCV001794452 RCV003338382 RCV004732545 RCV005049349
NM_000518.5(HBB):c.82G>T (p.Ala28Ser)	SNV Germline	Chr11:5226940	Pathogenic	beta Thalassemia Hemoglobinopathy Hb SS disease HEMOGLOBIN KNOSSOS Beta-plus-thalassemia Beta-Knossos-thalassemia Malaria, susceptibility to Beta-thalassemia HBB/LCRB Condition: not provided 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA124983	rs_35424040	15 SubmittersRCV000169609 RCV000780311 RCV001004353 RCV000016439 RCV000016440 RCV000016441 RCV003992156 RCV005623063 RCV000757368 RCV005049350
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 SubmittersRCV000016450 RCV001004559 RCV001284158 RCV001804165 RCV005049351
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 SubmittersRCV000016524 RCV000016525 RCV000029993 RCV000202511 RCV000508438 RCV000587075 RCV002476974
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 SubmittersRCV000016598 RCV000016599 RCV000016600 RCV000589517 RCV001004561 RCV002476975 RCV004689418
NM_000518.5(HBB):c.52A>T (p.Lys18Ter)	SNV Germline	Chr11:5226970	Pathogenic	Beta zero thalassemia beta Thalassemia Condition: not provided 9 conditions Hb SS disease Beta-thalassemia HBB/LCRB 8 conditions 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA125257	rs_33986703	17 SubmittersRCV000016655 RCV000020337 RCV000507505 RCV000763255 RCV001004355 RCV002288498 RCV005049356 RCV005400415
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)	SNV Germline	Chr11:5226774	Pathogenic	Condition: not provided beta Thalassemia Hb SS disease Beta zero thalassemia Heinz body anemia Beta-thalassemia HBB/LCRB Malaria, susceptibility to Inborn genetic diseases HBB-related disorder 8 conditions alpha Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA125259	rs_11549407	40 SubmittersRCV000254827 RCV000379715 RCV001004570 RCV000016656 RCV002221479 RCV002288499 RCV003987324 RCV002336086 RCV004532366 RCV005003361 RCV001197268
NM_000518.5(HBB):c.47G>A (p.Trp16Ter)	SNV Germline	Chr11:5226975	Pathogenic	Beta zero thalassemia beta Thalassemia Hb SS disease Condition: not provided Beta-thalassemia HBB/LCRB 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA125261	rs_63750783	17 SubmittersRCV000016657 RCV000576738 RCV001004356 RCV000508601 RCV003985073 RCV005049357
NM_000518.5(HBB):c.364G>T (p.Glu122Ter)	SNV Germline	Chr11:5225678	Pathogenic	Dominant beta-thalassemia Condition: not provided Hb SS disease beta Thalassemia Beta-thalassemia HBB/LCRB	Criteria Provided Multiple Submitters No Conflicts	CA125263	rs_33946267	8 SubmittersRCV000016658 RCV000507274 RCV001004560 RCV000984185 RCV005430462
NM_000518.5(HBB):c.130G>T (p.Glu44Ter)	SNV Germline	Chr11:5226762	Pathogenic	Beta zero thalassemia Condition: not provided Hemoglobinopathy beta Thalassemia Hb SS disease Beta-thalassemia HBB/LCRB 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA125267	rs_33922842	12 SubmittersRCV000016660 RCV000506797 RCV000780310 RCV000665678 RCV001004568 RCV004795419 RCV005049358
NM_000518.5(HBB):c.2T>G (p.Met1Arg)	SNV Germline	Chr11:5227020	Pathogenic	Beta zero thalassemia Condition: not provided beta Thalassemia Beta-thalassemia HBB/LCRB Hb SS disease 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA125299	rs_33941849	10 SubmittersRCV000016691 RCV000505904 RCV000664667 RCV005430107 RCV001004361 RCV005049363
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 Dominant beta-thalassemia Beta-thalassemia HBB/LCRB Dominant beta-thalassemia 8 conditions Erythrocytosis, familial, 6 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA125303	rs_33971440	32 SubmittersRCV000016694 RCV000020340 RCV000390929 RCV001004350 RCV001329338 RCV002288501 RCV005051735 RCV004819209 RCV005003368 RCV005357131 RCV004975260
NM_000518.5(HBB):c.92+1G>T	SNV Germline	Chr11:5226929	Pathogenic	beta Thalassemia Condition: not provided Beta zero thalassemia HBB-related disorder Inborn genetic diseases 8 conditions Hb SS disease Beta-thalassemia HBB/LCRB	Criteria Provided Multiple Submitters No Conflicts	CA125304	rs_33971440	17 SubmittersRCV000169505 RCV000507580 RCV000016695 RCV004532369 RCV002444432 RCV005003369 RCV001004349 RCV004689419
NM_000518.5(HBB):c.315+1G>A	SNV Germline	Chr11:5226576	Pathogenic	Beta zero thalassemia beta Thalassemia Condition: not provided Dominant beta-thalassemia not specified Beta-thalassemia HBB/LCRB Hb SS disease 8 conditions Malaria, susceptibility to Erythrocytosis, familial, 6	Criteria Provided Multiple Submitters No Conflicts	CA125305	rs_33945777	28 SubmittersRCV000016696 RCV000020332 RCV000255349 RCV001723572 RCV001731303 RCV002288502 RCV001004566 RCV005003370 RCV003987325 RCV005357132
NM_000518.5(HBB):c.92+5G>C	SNV Germline	Chr11:5226925	Pathogenic	beta Thalassemia Condition: not provided Hb SS disease 9 conditions Beta-plus-thalassemia 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	34 SubmittersRCV000020341 RCV000255746 RCV001004348 RCV000763253 RCV000016705 RCV001794453 RCV002288503 RCV002444433 RCV003445071 RCV003987326 RCV005252684 RCV004732547 RCV004814907 RCV005049365
NM_000518.5(HBB):c.92+5G>A	SNV Germline	Chr11:5226925	Pathogenic	Beta-plus-thalassemia beta Thalassemia 8 conditions Hb SS disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA125312	rs_33915217	9 SubmittersRCV000016707 RCV000030004 RCV005049367 RCV005252685 RCV001216321
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 8 conditions Beta thalassemia intermedia Erythrocytosis, familial, 6	Criteria Provided Multiple Submitters No Conflicts	CA125313	rs_35724775	27 SubmittersRCV000016708 RCV000415353 RCV000417932 RCV000763252 RCV001004347 RCV002247349 RCV002371774 RCV003988822 RCV004532370 RCV004566748 RCV005049368 RCV005406746 RCV005357133
NM_000518.5(HBB):c.93-21G>A	SNV Germline	Chr11:5226820	Pathogenic/Likely pathogenic	Beta-plus-thalassemia beta Thalassemia Condition: not provided Fetal hemoglobin quantitative trait locus 1 Beta-thalassemia major Inborn genetic diseases Beta-thalassemia HBB/LCRB Malaria, susceptibility to 8 conditions 9 conditions Hb SS disease Erythrocytosis, familial, 6	Criteria Provided Multiple Submitters No Conflicts	CA125315	rs_35004220	37 SubmittersRCV000016712 RCV000020343 RCV000799079 RCV001262998 RCV000030008 RCV002371775 RCV002288504 RCV003989289 RCV005049369 RCV000763251 RCV001004346 RCV005357134
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 SubmittersRCV000016715 RCV000029978 RCV000506445 RCV001004564 RCV002272021 RCV002288505 RCV004732548 RCV005357135 RCV005003371
NM_000518.5(HBB):c.316-197C>T	SNV Germline	Chr11:5225923	Pathogenic	beta Thalassemia Condition: not provided Beta zero thalassemia HBB-related disorder Hb SS disease 8 conditions Beta-thalassemia major	Criteria Provided Multiple Submitters No Conflicts	CA125317	rs_34451549	13 SubmittersRCV000020334 RCV000794203 RCV000016716 RCV004532371 RCV001004565 RCV005049370 RCV000029984
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	10 SubmittersRCV000016717 RCV000030002 RCV000508672 RCV001004354 RCV002496383
NM_000518.5(HBB):c.-78A>C	SNV Germline	Chr11:5227099	Pathogenic	Beta-plus-thalassemia beta Thalassemia Condition: not provided 8 conditions Hb SS disease Beta-thalassemia HBB/LCRB	Criteria Provided Multiple Submitters No Conflicts	CA125328	rs_33931746	10 SubmittersRCV000016728 RCV000589656 RCV000508592 RCV005003374 RCV001004363 RCV005430108
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 Beta-thalassemia HBB/LCRB 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA125329	rs_33931746	12 SubmittersRCV000016729 RCV000029960 RCV000506257 RCV001004362 RCV004795422 RCV005049374
NM_000518.5(HBB):c.316-2A>G	SNV Germline	Chr11:5225728	Pathogenic	beta Thalassemia Beta zero thalassemia Hb SS disease Condition: not provided 9 conditions 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA341711	rs_33914668	13 SubmittersRCV000020336 RCV000016701 RCV001004562 RCV000508360 RCV002504815 RCV003389313
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 SubmittersRCV000445650 RCV001004365 RCV001379381 RCV003317048 RCV005049386
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 SubmittersRCV000029956 RCV000755548 RCV001104361 RCV001104363 RCV001104362 RCV001420720 RCV002272029 RCV005049387 RCV004732554
NM_000518.5(HBB):c.324C>T (p.Gly108=)	SNV Germline	Chr11:5225718	Conflicting classifications of pathogenicity	Condition: not provided not specified 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 SubmittersRCV000759069 RCV000507146 RCV001103966 RCV001103967 RCV001103968 RCV001103969 RCV005049393 RCV005572269
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 SubmittersRCV000029995 RCV000860902 RCV001107580 RCV001107582 RCV001107581 RCV002354172 RCV004532419
NM_000518.5(HBB):c.*110T>C	SNV Germline	Chr11:5225488	Pathogenic	Beta-plus-thalassemia Hb SS disease beta Thalassemia Condition: not provided 8 conditions Beta-thalassemia HBB/LCRB	Criteria Provided Multiple Submitters No Conflicts	CA213889	rs_33978907	14 SubmittersRCV000016730 RCV001004557 RCV000445649 RCV000506540 RCV005049394 RCV004566754
NM_000518.5(HBB):c.274C>T (p.Leu92=)	SNV Germline	Chr11:5226618	Conflicting classifications of pathogenicity	Fetal hemoglobin quantitative trait locus 1 Hemoglobin E not specified Condition: not provided beta Thalassemia Hb SS disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5839740	rs_769583496	6 SubmittersRCV001104255 RCV001104256 RCV000507587 RCV000756242 RCV001104257 RCV001104258 RCV004629226
NM_000518.5(HBB):c.294C>T (p.His98=)	SNV Germline	Chr11:5226598	Conflicting classifications of pathogenicity	not specified Fetal hemoglobin quantitative trait locus 1 beta Thalassemia Hemoglobin E Hb SS disease Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5839738	rs_34515413	7 SubmittersRCV000506063 RCV001103971 RCV001103970 RCV001103972 RCV001104254 RCV000585933 RCV003159645
NM_000518.5(HBB):c.246C>A (p.Leu82=)	SNV Germline	Chr11:5226646	Conflicting classifications of pathogenicity	Condition: not provided Hb SS disease Fetal hemoglobin quantitative trait locus 1 not specified beta Thalassemia Hemoglobin E	Criteria Provided Conflicting Classifications	CA5839741	rs_145669504	6 SubmittersRCV000759796 RCV001104261 RCV001107021 RCV000505921 RCV001104259 RCV001104260
NM_000518.5(HBB):c.316-7C>A	SNV Germline	Chr11:5225733	Conflicting classifications of pathogenicity	beta Thalassemia Hb SS disease not specified Condition: not provided Beta-thalassemia HBB/LCRB	Criteria Provided Conflicting Classifications	CA217112896	rs_34483965	7 SubmittersRCV000667076 RCV001004563 RCV001000150 RCV001283996 RCV005430554
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 SubmittersRCV001107681 RCV001107680 RCV001107682 RCV001107683 RCV001174809 RCV002069760

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
Beta-thalassemia HBB/LCRB
Inborn genetic diseases
Hereditary persistence of fetal hemoglobin
Sickle cell-hemoglobin C disease
HBB-related disorder
Inherited hemoglobinopathy
alpha Thalassemia
Dominant beta-thalassemia
Beta-thalassemia HBB/LCRB
Heinz body anemia
Hb SS disease
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA124780

rs_33930165

33 SubmittersRCV000016284 RCV000016285 RCV000202507 RCV000224028 RCV000576347 RCV001535943 RCV001813746 RCV002288494 RCV002415418 RCV003137529 RCV003150807 RCV003335041 RCV004017254 RCV005357128 RCV005049343

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
beta Thalassemia
Hb SS disease
Fetal hemoglobin quantitative trait locus 1
Dominant beta-thalassemia
not specified
Hb SS disease
Fetal hemoglobin quantitative trait locus 1
Hemoglobin E
9 conditions
8 conditions
Hemoglobinopathy
Hb SS disease
Heinz body anemia
Beta-thalassemia HBB/LCRB
alpha Thalassemia
Dominant beta-thalassemia

Criteria Provided
Conflicting Classifications

CA124797

rs_33947415

16 SubmittersRCV000016301 RCV000396079 RCV000587680 RCV000709890 RCV000855646 RCV001004567 RCV001107023 RCV001107022 RCV001535933 RCV005049344 RCV005417430 RCV005364880

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

19 SubmittersRCV000016317 RCV000029994 RCV000202465 RCV000723826 RCV000778329 RCV001175348 RCV002247348 RCV005049345 RCV005229799

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
not specified
Condition: not provided
beta Thalassemia
Hemoglobin E disease
Anemia
9 conditions
Beta-thalassemia HBB/LCRB
Inborn genetic diseases
Malaria, susceptibility to
HBB-related disorder
8 conditions
7 conditions
Hereditary persistence of fetal hemoglobin
Hemoglobin E/beta- thalassemia
alpha Thalassemia
Dominant beta-thalassemia
Beta-thalassemia HBB/LCRB
Heinz body anemia
Hb SS disease

Criteria Provided
Multiple Submitters
No Conflicts

CA124838

rs_33950507

34 SubmittersRCV000016329 RCV000016330 RCV000016331 RCV000016332 RCV000202534 RCV000506024 RCV000521111 RCV000496072 RCV000778330 RCV000853358 RCV001536065 RCV002288495 RCV002415419 RCV003989105 RCV004532365 RCV004795418 RCV005222686 RCV005229800 RCV005252683 RCV005357129

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
Beta-thalassemia HBB/LCRB
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA124914

rs_33949486

7 SubmittersRCV000016385 RCV000029996 RCV001004558 RCV001284489 RCV002290955 RCV002321485

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

18 SubmittersRCV000016432 RCV000506942 RCV001004351 RCV001794452 RCV003338382 RCV004732545 RCV005049349

NM_000518.5(HBB):c.82G>T (p.Ala28Ser)

SNV
Germline

Chr11:5226940

Pathogenic

beta Thalassemia
Hemoglobinopathy
Hb SS disease
HEMOGLOBIN KNOSSOS
Beta-plus-thalassemia
Beta-Knossos-thalassemia
Malaria, susceptibility to
Beta-thalassemia HBB/LCRB
Condition: not provided
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA124983

rs_35424040

15 SubmittersRCV000169609 RCV000780311 RCV001004353 RCV000016439 RCV000016440 RCV000016441 RCV003992156 RCV005623063 RCV000757368 RCV005049350

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 SubmittersRCV000016450 RCV001004559 RCV001284158 RCV001804165 RCV005049351

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 SubmittersRCV000016524 RCV000016525 RCV000029993 RCV000202511 RCV000508438 RCV000587075 RCV002476974

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 SubmittersRCV000016598 RCV000016599 RCV000016600 RCV000589517 RCV001004561 RCV002476975 RCV004689418

NM_000518.5(HBB):c.52A>T (p.Lys18Ter)

SNV
Germline

Chr11:5226970

Pathogenic

Beta zero thalassemia
beta Thalassemia
Condition: not provided
9 conditions
Hb SS disease
Beta-thalassemia HBB/LCRB
8 conditions
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA125257

rs_33986703

17 SubmittersRCV000016655 RCV000020337 RCV000507505 RCV000763255 RCV001004355 RCV002288498 RCV005049356 RCV005400415

NM_000518.5(HBB):c.118C>T (p.Gln40Ter)

SNV
Germline

Chr11:5226774

Pathogenic

Condition: not provided
beta Thalassemia
Hb SS disease
Beta zero thalassemia
Heinz body anemia
Beta-thalassemia HBB/LCRB
Malaria, susceptibility to
Inborn genetic diseases
HBB-related disorder
8 conditions
alpha Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA125259

rs_11549407

40 SubmittersRCV000254827 RCV000379715 RCV001004570 RCV000016656 RCV002221479 RCV002288499 RCV003987324 RCV002336086 RCV004532366 RCV005003361 RCV001197268

NM_000518.5(HBB):c.47G>A (p.Trp16Ter)

SNV
Germline

Chr11:5226975

Pathogenic

Beta zero thalassemia
beta Thalassemia
Hb SS disease
Condition: not provided
Beta-thalassemia HBB/LCRB
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA125261

rs_63750783

17 SubmittersRCV000016657 RCV000576738 RCV001004356 RCV000508601 RCV003985073 RCV005049357

NM_000518.5(HBB):c.364G>T (p.Glu122Ter)

SNV
Germline

Chr11:5225678

Pathogenic

Dominant beta-thalassemia
Condition: not provided
Hb SS disease
beta Thalassemia
Beta-thalassemia HBB/LCRB

Criteria Provided
Multiple Submitters
No Conflicts

CA125263

rs_33946267

8 SubmittersRCV000016658 RCV000507274 RCV001004560 RCV000984185 RCV005430462

NM_000518.5(HBB):c.130G>T (p.Glu44Ter)

SNV
Germline

Chr11:5226762

Pathogenic

Beta zero thalassemia
Condition: not provided
Hemoglobinopathy
beta Thalassemia
Hb SS disease
Beta-thalassemia HBB/LCRB
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA125267

rs_33922842

12 SubmittersRCV000016660 RCV000506797 RCV000780310 RCV000665678 RCV001004568 RCV004795419 RCV005049358

NM_000518.5(HBB):c.2T>G (p.Met1Arg)

SNV
Germline

Chr11:5227020

Pathogenic

Beta zero thalassemia
Condition: not provided
beta Thalassemia
Beta-thalassemia HBB/LCRB
Hb SS disease
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA125299

rs_33941849

10 SubmittersRCV000016691 RCV000505904 RCV000664667 RCV005430107 RCV001004361 RCV005049363

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
Dominant beta-thalassemia
Beta-thalassemia HBB/LCRB
Dominant beta-thalassemia
8 conditions
Erythrocytosis, familial, 6
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA125303

rs_33971440

32 SubmittersRCV000016694 RCV000020340 RCV000390929 RCV001004350 RCV001329338 RCV002288501 RCV005051735 RCV004819209 RCV005003368 RCV005357131 RCV004975260

NM_000518.5(HBB):c.92+1G>T

SNV
Germline

Chr11:5226929

Pathogenic

beta Thalassemia
Condition: not provided
Beta zero thalassemia
HBB-related disorder
Inborn genetic diseases
8 conditions
Hb SS disease
Beta-thalassemia HBB/LCRB

Criteria Provided
Multiple Submitters
No Conflicts

CA125304

rs_33971440

17 SubmittersRCV000169505 RCV000507580 RCV000016695 RCV004532369 RCV002444432 RCV005003369 RCV001004349 RCV004689419

NM_000518.5(HBB):c.315+1G>A

SNV
Germline

Chr11:5226576

Pathogenic

Beta zero thalassemia
beta Thalassemia
Condition: not provided
Dominant beta-thalassemia
not specified
Beta-thalassemia HBB/LCRB
Hb SS disease
8 conditions
Malaria, susceptibility to
Erythrocytosis, familial, 6

Criteria Provided
Multiple Submitters
No Conflicts

CA125305

rs_33945777

28 SubmittersRCV000016696 RCV000020332 RCV000255349 RCV001723572 RCV001731303 RCV002288502 RCV001004566 RCV005003370 RCV003987325 RCV005357132

NM_000518.5(HBB):c.92+5G>C

SNV
Germline

Chr11:5226925

Pathogenic

beta Thalassemia
Condition: not provided
Hb SS disease
9 conditions
Beta-plus-thalassemia
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

34 SubmittersRCV000020341 RCV000255746 RCV001004348 RCV000763253 RCV000016705 RCV001794453 RCV002288503 RCV002444433 RCV003445071 RCV003987326 RCV005252684 RCV004732547 RCV004814907 RCV005049365

NM_000518.5(HBB):c.92+5G>A

SNV
Germline

Chr11:5226925

Pathogenic

Beta-plus-thalassemia
beta Thalassemia
8 conditions
Hb SS disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA125312

rs_33915217

9 SubmittersRCV000016707 RCV000030004 RCV005049367 RCV005252685 RCV001216321

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
8 conditions
Beta thalassemia intermedia
Erythrocytosis, familial, 6

Criteria Provided
Multiple Submitters
No Conflicts

CA125313

rs_35724775

27 SubmittersRCV000016708 RCV000415353 RCV000417932 RCV000763252 RCV001004347 RCV002247349 RCV002371774 RCV003988822 RCV004532370 RCV004566748 RCV005049368 RCV005406746 RCV005357133

NM_000518.5(HBB):c.93-21G>A

SNV
Germline

Chr11:5226820

Pathogenic/Likely pathogenic

Beta-plus-thalassemia
beta Thalassemia
Condition: not provided
Fetal hemoglobin quantitative trait locus 1
Beta-thalassemia major
Inborn genetic diseases
Beta-thalassemia HBB/LCRB
Malaria, susceptibility to
8 conditions
9 conditions
Hb SS disease
Erythrocytosis, familial, 6

Criteria Provided
Multiple Submitters
No Conflicts

CA125315

rs_35004220

37 SubmittersRCV000016712 RCV000020343 RCV000799079 RCV001262998 RCV000030008 RCV002371775 RCV002288504 RCV003989289 RCV005049369 RCV000763251 RCV001004346 RCV005357134

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 SubmittersRCV000016715 RCV000029978 RCV000506445 RCV001004564 RCV002272021 RCV002288505 RCV004732548 RCV005357135 RCV005003371

NM_000518.5(HBB):c.316-197C>T

SNV
Germline

Chr11:5225923

Pathogenic

beta Thalassemia
Condition: not provided
Beta zero thalassemia
HBB-related disorder
Hb SS disease
8 conditions
Beta-thalassemia major

Criteria Provided
Multiple Submitters
No Conflicts

CA125317

rs_34451549

13 SubmittersRCV000020334 RCV000794203 RCV000016716 RCV004532371 RCV001004565 RCV005049370 RCV000029984

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

10 SubmittersRCV000016717 RCV000030002 RCV000508672 RCV001004354 RCV002496383

NM_000518.5(HBB):c.-78A>C

SNV
Germline

Chr11:5227099

Pathogenic

Beta-plus-thalassemia
beta Thalassemia
Condition: not provided
8 conditions
Hb SS disease
Beta-thalassemia HBB/LCRB

Criteria Provided
Multiple Submitters
No Conflicts

CA125328

rs_33931746

10 SubmittersRCV000016728 RCV000589656 RCV000508592 RCV005003374 RCV001004363 RCV005430108

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
Beta-thalassemia HBB/LCRB
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA125329

rs_33931746

12 SubmittersRCV000016729 RCV000029960 RCV000506257 RCV001004362 RCV004795422 RCV005049374

NM_000518.5(HBB):c.316-2A>G

SNV
Germline

Chr11:5225728

Pathogenic

beta Thalassemia
Beta zero thalassemia
Hb SS disease
Condition: not provided
9 conditions
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA341711

rs_33914668

13 SubmittersRCV000020336 RCV000016701 RCV001004562 RCV000508360 RCV002504815 RCV003389313

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 SubmittersRCV000445650 RCV001004365 RCV001379381 RCV003317048 RCV005049386

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 SubmittersRCV000029956 RCV000755548 RCV001104361 RCV001104363 RCV001104362 RCV001420720 RCV002272029 RCV005049387 RCV004732554

NM_000518.5(HBB):c.324C>T (p.Gly108=)

SNV
Germline

Chr11:5225718

Conflicting classifications of pathogenicity

Condition: not provided
not specified
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 SubmittersRCV000759069 RCV000507146 RCV001103966 RCV001103967 RCV001103968 RCV001103969 RCV005049393 RCV005572269

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 SubmittersRCV000029995 RCV000860902 RCV001107580 RCV001107582 RCV001107581 RCV002354172 RCV004532419

NM_000518.5(HBB):c.*110T>C

SNV
Germline

Chr11:5225488

Pathogenic

Beta-plus-thalassemia
Hb SS disease
beta Thalassemia
Condition: not provided
8 conditions
Beta-thalassemia HBB/LCRB

Criteria Provided
Multiple Submitters
No Conflicts

CA213889

rs_33978907