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	Malaria, resistance to HEMOGLOBIN C Hb SS disease Condition: not provided beta Thalassemia 9 conditions Heinz body anemia Inborn genetic diseases Beta-thalassemia HBB/LCRB HBB-related disorder Inherited hemoglobinopathy Hereditary persistence of fetal hemoglobin Sickle cell-hemoglobin C disease	Criteria Provided Multiple Submitters No Conflicts	CA124780	rs_33930165	28 SubmittersRCV000016285 RCV000016284 RCV000202507 RCV000224028 RCV000576347 RCV001535943 RCV001813746 RCV002415418 RCV002288494 RCV003335041 RCV004017254 RCV003137529 RCV003150807
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 not specified Hb SS disease Hemoglobin E beta Thalassemia Hb SS disease Fetal hemoglobin quantitative trait locus 1 Dominant beta-thalassemia Fetal hemoglobin quantitative trait locus 1 9 conditions	Criteria Provided Conflicting Classifications	CA124797	rs_33947415	15 SubmittersRCV000016301 RCV000396079 RCV000587680 RCV000855646 RCV001004567 RCV001107022 RCV000709890 RCV001107023 RCV001535933
NM_000518.4(HBB):c.388G>C (p.Ala130Pro)	SNV Germline	Chr11:5225654	Likely pathogenic	HEMOGLOBIN CRETE beta Thalassemia	Criteria Provided Single Submitter	CA124812	rs_35939430	2 SubmittersRCV000016309 RCV001823097
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 SubmittersRCV000016310 RCV000641434 RCV001374642
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 SubmittersRCV000016313 RCV000506646 RCV001826463
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 HBB-related disorder Condition: not provided Hemoglobin D disease Heinz body anemia	Criteria Provided Multiple Submitters No Conflicts	CA124824	rs_33946267	17 SubmittersRCV000016317 RCV000029994 RCV000202465 RCV000778329 RCV000723826 RCV001175348 RCV002247348
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 Inborn genetic diseases Beta-thalassemia HBB/LCRB HBB-related disorder Malaria, susceptibility to	Criteria Provided Multiple Submitters No Conflicts	CA124838	rs_33950507	25 SubmittersRCV000016329 RCV000016330 RCV000016331 RCV000016332 RCV000202534 RCV000506024 RCV000521111 RCV000496072 RCV000778330 RCV000853358 RCV001536065 RCV002415419 RCV002288495 RCV004532365 RCV003989105
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 SubmittersRCV000016371 RCV000016372 RCV000016373 RCV000757359 RCV001831570
NM_000518.5(HBB):c.380T>A (p.Val127Glu)	SNV Germline	Chr11:5225662	Conflicting classifications of pathogenicity	HEMOGLOBIN HOFU Condition: not provided beta Thalassemia	Criteria Provided Conflicting Classifications	CA124912	rs_33925391	5 SubmittersRCV000016384 RCV000759797 RCV001507092
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 SubmittersRCV000016385 RCV000029996 RCV001004558 RCV001284489 RCV002321485 RCV002290955
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	Criteria Provided Multiple Submitters No Conflicts	CA213890	rs_33960103	14 SubmittersRCV000016432 RCV000506942 RCV001004351 RCV001794452 RCV003338382
NM_000518.5(HBB):c.82G>T (p.Ala28Ser)	SNV Germline	Chr11:5226940	Pathogenic/Likely pathogenic	HEMOGLOBIN KNOSSOS Beta-plus-thalassemia Beta-Knossos-thalassemia beta Thalassemia Condition: not provided Hemoglobinopathy Hb SS disease Malaria, susceptibility to	Criteria Provided Multiple Submitters No Conflicts	CA124983	rs_35424040	13 SubmittersRCV000016439 RCV000016440 RCV000016441 RCV000169609 RCV000757368 RCV000780311 RCV001004353 RCV003992156
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	5 SubmittersRCV000016443 RCV000016446 RCV001826464 RCV001811157
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 SubmittersRCV000016449 RCV000587238 RCV000855647 RCV001826465
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	Criteria Provided Multiple Submitters No Conflicts	CA125011	rs_33922873	4 SubmittersRCV000016466 RCV000641524 RCV000988480 RCV001266995
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 not specified	Criteria Provided Multiple Submitters No Conflicts	CA125015	rs_33972047	7 SubmittersRCV000016479 RCV000016480 RCV000016481 RCV000020338 RCV000508637 RCV001000121
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 SubmittersRCV000016504 RCV000016505 RCV000016506 RCV000016507 RCV000016508 RCV000506157 RCV000755549 RCV001835628
NM_000518.4(HBB):c.364G>A (p.Glu122Lys)	SNV Germline	Chr11:5225678	Pathogenic/Likely pathogenic	HEMOGLOBIN EGYPT HEMOGLOBIN O (ARAB) 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 SubmittersRCV000016525 RCV000016524 RCV000029993 RCV000202511 RCV000508438 RCV000587075 RCV002476974
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 SubmittersRCV000016537 RCV000029964 RCV001811161
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	4 SubmittersRCV000016563 RCV000781459 RCV001811163 RCV001831571
NM_000518.5(HBB):c.328G>A (p.Val110Met)	SNV Germline	Chr11:5225714	Pathogenic/Likely pathogenic	HEMOGLOBIN SAN DIEGO beta Thalassemia Erythrocytosis, familial, 6 Hemoglobinopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA125147	rs_33969677	5 SubmittersRCV000016585 RCV000169614 RCV000641606 RCV001553627 RCV003476897
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	Criteria Provided Multiple Submitters No Conflicts	CA125166	rs_35256489	6 SubmittersRCV000016598 RCV000016599 RCV000016600 RCV000589517 RCV001004561 RCV002476975
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	Criteria Provided Multiple Submitters No Conflicts	CA125257	rs_33986703	15 SubmittersRCV000016655 RCV000020337 RCV000507505 RCV000763255 RCV001004355 RCV002288498
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)	SNV Germline	Chr11:5226774	Pathogenic	Beta zero thalassemia Condition: not provided beta Thalassemia Hb SS disease alpha Thalassemia Heinz body anemia Beta-thalassemia HBB/LCRB Inborn genetic diseases 9 conditions HBB-related disorder Malaria, susceptibility to	Criteria Provided Multiple Submitters No Conflicts	CA125259	rs_11549407	36 SubmittersRCV000016656 RCV000254827 RCV000379715 RCV001004570 RCV001197268 RCV002221479 RCV002288499 RCV002336086 RCV002476976 RCV004532366 RCV003987324
NM_000518.5(HBB):c.47G>A (p.Trp16Ter)	SNV Germline	Chr11:5226975	Pathogenic	Beta zero thalassemia beta Thalassemia Condition: not provided Hb SS disease Beta-thalassemia HBB/LCRB	Criteria Provided Multiple Submitters No Conflicts	CA125261	rs_63750783	14 SubmittersRCV000016657 RCV000576738 RCV000508601 RCV001004356 RCV003985073
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	Criteria Provided Multiple Submitters No Conflicts	CA125263	rs_33946267	8 SubmittersRCV000016658 RCV000507274 RCV001004560 RCV000984185
NM_000518.5(HBB):c.114G>A (p.Trp38Ter)	SNV Germline	Chr11:5226778	Pathogenic/Likely pathogenic	Beta zero thalassemia beta Thalassemia Condition: not provided not specified Hemoglobinopathy	Criteria Provided Multiple Submitters No Conflicts	CA125265	rs_33974936	9 SubmittersRCV000016659 RCV000169502 RCV000506223 RCV000999750 RCV000781456
NM_000518.5(HBB):c.130G>T (p.Glu44Ter)	SNV Germline	Chr11:5226762	Pathogenic	Beta zero thalassemia beta Thalassemia Hb SS disease Condition: not provided Hemoglobinopathy	Criteria Provided Multiple Submitters No Conflicts	CA125267	rs_33922842	10 SubmittersRCV000016660 RCV000665678 RCV001004568 RCV000506797 RCV000780310
NM_000518.5(HBB):c.184A>T (p.Lys62Ter)	SNV Germline	Chr11:5226708	Pathogenic	Beta zero thalassemia beta Thalassemia Condition: not provided 9 conditions	Criteria Provided Multiple Submitters No Conflicts	CA125269	rs_33995148	6 SubmittersRCV000016661 RCV001078254 RCV000506527 RCV002504795
NM_000518.5(HBB):c.108C>A (p.Tyr36Ter)	SNV Germline	Chr11:5226784	Pathogenic	Beta zero thalassemia beta Thalassemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA125271	rs_33982568	5 SubmittersRCV000016662 RCV001078304 RCV001800305
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	Criteria Provided Multiple Submitters No Conflicts	CA125299	rs_33941849	9 SubmittersRCV000016691 RCV000505904 RCV000664667 RCV001004361
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 9 conditions	Criteria Provided Multiple Submitters No Conflicts	CA125303	rs_33971440	28 SubmittersRCV000016694 RCV000020340 RCV000390929 RCV001004350 RCV001329338 RCV002288501 RCV002476978
NM_000518.5(HBB):c.92+1G>T	SNV Germline	Chr11:5226929	Pathogenic/Likely pathogenic	Beta zero thalassemia beta Thalassemia Condition: not provided Hb SS disease 9 conditions Inborn genetic diseases HBB-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA125304	rs_33971440	15 SubmittersRCV000016695 RCV000169505 RCV000507580 RCV001004349 RCV002482875 RCV002444432 RCV004532369
NM_000518.5(HBB):c.315+1G>A	SNV Germline	Chr11:5226576	Pathogenic	Beta zero thalassemia beta Thalassemia Condition: not provided Hb SS disease not specified Dominant beta-thalassemia 9 conditions Beta-thalassemia HBB/LCRB Malaria, susceptibility to	Criteria Provided Multiple Submitters No Conflicts	CA125305	rs_33945777	24 SubmittersRCV000016696 RCV000020332 RCV000255349 RCV001004566 RCV001731303 RCV001723572 RCV002476979 RCV002288502 RCV003987325
NM_000518.5(HBB):c.93-1G>A	SNV Germline	Chr11:5226800	Pathogenic	Beta zero thalassemia Condition: not provided beta Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA125309	rs_33943001	6 SubmittersRCV000016704 RCV000508208 RCV000587419
NM_000518.5(HBB):c.92+5G>C	SNV Germline	Chr11:5226925	Pathogenic	Beta-plus-thalassemia beta Thalassemia Condition: not provided 9 conditions Hb SS disease Beta-thalassemia major Beta-thalassemia HBB/LCRB Inborn genetic diseases Hereditary persistence of fetal hemoglobin Malaria, susceptibility to	Criteria Provided Multiple Submitters No Conflicts	CA125310	rs_33915217	28 SubmittersRCV000016705 RCV000020341 RCV000255746 RCV000763253 RCV001004348 RCV001794453 RCV002288503 RCV002444433 RCV003445071 RCV003987326
NM_000518.5(HBB):c.92+5G>T	SNV Germline	Chr11:5226925	Pathogenic	Beta-plus-thalassemia Beta-thalassemia major Condition: not provided beta Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA125311	rs_33915217	9 SubmittersRCV000016706 RCV000030005 RCV000505898 RCV000984182
NM_000518.5(HBB):c.92+5G>A	SNV Germline	Chr11:5226925	Pathogenic/Likely pathogenic	Beta-plus-thalassemia beta Thalassemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA125312	rs_33915217	7 SubmittersRCV000016707 RCV000030004 RCV001216321
NM_000518.5(HBB):c.92+6T>C	SNV Germline	Chr11:5226924	Conflicting classifications of pathogenicity	Beta-plus-thalassemia Condition: not provided beta Thalassemia 9 conditions Hb SS disease Fetal hemoglobin quantitative trait locus 1 Hemoglobin E Inborn genetic diseases Heinz body anemia Malaria, susceptibility to Beta-thalassemia HBB/LCRB HBB-related disorder	Criteria Provided Conflicting Classifications	CA125313	rs_35724775	22 SubmittersRCV000016708 RCV000417932 RCV000415353 RCV000763252 RCV001004347 RCV001107024 RCV001107025 RCV002371774 RCV002247349 RCV003988822 RCV004566748 RCV004532370
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	Criteria Provided Multiple Submitters No Conflicts	CA125314	rs_33913413	13 SubmittersRCV000016709 RCV000029987 RCV000506607 RCV000984183 RCV002496382 RCV004528115
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 Condition: not provided Hb SS disease Fetal hemoglobin quantitative trait locus 1 Inborn genetic diseases Beta-thalassemia HBB/LCRB Malaria, susceptibility to	Criteria Provided Multiple Submitters No Conflicts	CA125315	rs_35004220	30 SubmittersRCV000016712 RCV000020343 RCV000030008 RCV000763251 RCV000799079 RCV001004346 RCV001262998 RCV002371775 RCV002288504 RCV003989289
NM_000518.5(HBB):c.316-106C>G	SNV Germline	Chr11:5225832	Pathogenic	Beta-plus-thalassemia beta Thalassemia Condition: not provided Hb SS disease Dominant beta-thalassemia Beta-thalassemia HBB/LCRB 9 conditions	Criteria Provided Multiple Submitters No Conflicts	CA125316	rs_34690599	19 SubmittersRCV000016715 RCV000029978 RCV000506445 RCV001004564 RCV002272021 RCV002288505 RCV002476980
NM_000518.5(HBB):c.316-197C>T	SNV Germline	Chr11:5225923	Pathogenic	Beta zero thalassemia beta Thalassemia Beta-thalassemia major Hb SS disease Condition: not provided HBB-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA125317	rs_34451549	11 SubmittersRCV000016716 RCV000020334 RCV000029984 RCV001004565 RCV000794203 RCV004532371
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.-138C>T	SNV Germline	Chr11:5227159	Pathogenic/Likely pathogenic	Beta-plus-thalassemia beta Thalassemia Condition: not provided Hemoglobinopathy Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA125320	rs_33944208	10 SubmittersRCV000016718 RCV000020324 RCV000507151 RCV000781453 RCV002390113
NM_000518.5(HBB):c.-151C>T	SNV Germline	Chr11:5227172	Conflicting classifications of pathogenicity	Beta-plus-thalassemia beta Thalassemia Condition: not provided Malaria, susceptibility to 9 conditions Beta-thalassemia HBB/LCRB HBB-related disorder	Criteria Provided Conflicting Classifications	CA125321	rs_63751208	16 SubmittersRCV000016719 RCV000169081 RCV000820736 RCV003989290 RCV002496384 RCV004566749 RCV004532372
NM_000518.5(HBB):c.-142C>T	SNV Germline	Chr11:5227163	Pathogenic	Beta-plus-thalassemia Beta thalassemia intermedia beta Thalassemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA125322	rs_34883338	4 SubmittersRCV000016720 RCV000589915 RCV000445639 RCV003476899
NM_000518.5(HBB):c.-137C>G	SNV Germline	Chr11:5227158	Pathogenic/Likely pathogenic	Beta-plus-thalassemia Beta thalassemia intermedia Condition: not provided beta Thalassemia 9 conditions	Criteria Provided Multiple Submitters No Conflicts	CA125323	rs_33941377	10 SubmittersRCV000016722 RCV000029951 RCV000507653 RCV000445653 RCV002496385
NM_000518.4(HBB):c.-136C>G	SNV Germline	Chr11:5227157	Pathogenic/Likely pathogenic	Beta-plus-thalassemia beta Thalassemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA125324	rs_33994806	8 SubmittersRCV000016723 RCV000029948 RCV000505925
NM_000518.5(HBB):c.-81A>G	SNV Germline	Chr11:5227102	Pathogenic	Beta-plus-thalassemia beta Thalassemia Condition: not provided Beta thalassemia intermedia	Criteria Provided Multiple Submitters No Conflicts	CA125325	rs_33981098	8 SubmittersRCV000016724 RCV000445643 RCV000506722 RCV001255596
NM_000518.4(HBB):c.-80T>A	SNV Germline	Chr11:5227101	Pathogenic	Beta-plus-thalassemia beta Thalassemia Condition: not provided not specified	Criteria Provided Multiple Submitters No Conflicts	CA125326	rs_33980857	7 SubmittersRCV000016725 RCV000029962 RCV000508486 RCV001000147
NM_000518.5(HBB):c.-79A>G	SNV Germline	Chr11:5227100	Pathogenic	Beta-plus-thalassemia beta Thalassemia Condition: not provided Heinz body anemia 9 conditions Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA125327	rs_34598529	14 SubmittersRCV000016727 RCV000020326 RCV000810653 RCV002247350 RCV002476981 RCV002415420
NM_000518.5(HBB):c.-78A>C	SNV Germline	Chr11:5227099	Pathogenic	Beta-plus-thalassemia beta Thalassemia Condition: not provided Hb SS disease 9 conditions	Criteria Provided Multiple Submitters No Conflicts	CA125328	rs_33931746	10 SubmittersRCV000016728 RCV000589656 RCV000508592 RCV001004363 RCV002482876
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	Criteria Provided Multiple Submitters No Conflicts	CA125329	rs_33931746	10 SubmittersRCV000016729 RCV000029960 RCV000506257 RCV001004362
NM_000518.5(HBB):c.*113A>G	SNV Germline	Chr11:5225485	Pathogenic/Likely pathogenic	Beta-plus-thalassemia beta Thalassemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA125330	rs_33985472	5 SubmittersRCV000016731 RCV000445642 RCV002513070
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	Criteria Provided Multiple Submitters No Conflicts	CA125340	rs_33925391	7 SubmittersRCV000016741 RCV000674175 RCV000756239 RCV001260263
NM_000518.5(HBB):c.*111A>G	SNV Germline	Chr11:5225487	Pathogenic	Beta-plus-thalassemia beta Thalassemia Hemoglobinopathy Beta-thalassemia HBB/LCRB Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA125347	rs_63751128	8 SubmittersRCV000016748 RCV000445654 RCV001193152 RCV004566750 RCV000506983
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 SubmittersRCV000016766 RCV001078368 RCV003556031
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		rs_33952266	3 SubmittersRCV000016774 RCV001078268 RCV001800306
NM_000518.5(HBB):c.344T>C (p.Leu115Pro)	SNV Germline	Chr11:5225698	Pathogenic	HEMOGLOBIN BRESCIA HEMOGLOBIN DURHAM-N.C. Beta thalassemia intermedia Condition: not provided Dominant beta-thalassemia beta Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA125376	rs_36015961	5 SubmittersRCV000016776 RCV000016777 RCV000016775 RCV000759070 RCV001731305 RCV001826469
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 Beta-thalassemia HBB/LCRB HBB-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA125377	rs_34999973	11 SubmittersRCV000016778 RCV000029954 RCV000202364 RCV001069376 RCV002288506 RCV002260510
NM_000518.5(HBB):c.3G>A (p.Met1Ile)	SNV Germline	Chr11:5227019	Pathogenic	Beta zero thalassemia not specified Condition: not provided beta Thalassemia Dominant beta-thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA125383	rs_33930702	5 SubmittersRCV000016783 RCV000506641 RCV000508308 RCV001078376 RCV002222353
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 SubmittersRCV000016802 RCV001078371
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		rs_63750513	4 SubmittersRCV000016828 RCV000988481 RCV003476900
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	5 SubmittersRCV000016855 RCV000588829 RCV000855596 RCV001835629
NM_000517.4(HBA2):c.427T>A (p.Ter143Lys)	SNV Germline	Chr16:173598	Conflicting classifications of pathogenicity	HEMOGLOBIN ICARIA Hemoglobin H disease, nondeletional Condition: not provided alpha Thalassemia beta Thalassemia	Criteria Provided Conflicting Classifications	CA125550	rs_41464951	5 SubmittersRCV000016893 RCV000022603 RCV000985726 RCV002250461 RCV004017255
NM_000517.6(HBA2):c.*92A>G	SNV Germline	Chr16:173692	Pathogenic/Likely pathogenic	Alpha-thalassemia-2, nondeletional Hemoglobin H disease, nondeletional Condition: not provided alpha Thalassemia Hemoglobin H disease alpha Thalassemia Heinz body anemia Erythrocytosis, familial, 7 Hemoglobin H disease beta Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA125586	rs_63750067	8 SubmittersRCV000016933 RCV000022604 RCV000507591 RCV001831575 RCV002476983 RCV003989291 RCV004017256
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	7 SubmittersRCV000016702 RCV000020335 RCV000507767 RCV001290616
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	Criteria Provided Multiple Submitters No Conflicts	CA341711	rs_33914668	13 SubmittersRCV000016701 RCV000020336 RCV000508360 RCV001004562 RCV002504815 RCV003389313
NM_000518.4(HBB):c.-133G>A	SNV Germline	Chr11:5227154	Conflicting classifications of pathogenicity	beta Thalassemia Condition: not provided	Criteria Provided Conflicting Classifications	CA342841	rs_72561473	4 SubmittersRCV000029947 RCV000861030
NM_000518.5(HBB):c.-136C>T	SNV Germline	Chr11:5227157	Likely pathogenic	beta Thalassemia	Criteria Provided Single Submitter	CA342842	rs_33994806	1 SubmittersRCV000029949
NM_000518.5(HBB):c.-137C>A	SNV Germline	Chr11:5227158	Pathogenic/Likely pathogenic	beta Thalassemia Condition: not provided 9 conditions Beta thalassemia intermedia 9 conditions	Criteria Provided Multiple Submitters No Conflicts	CA213883	rs_33941377	8 SubmittersRCV000445644 RCV000506877 RCV000763257 RCV001797592 RCV002496453
NM_000518.4(HBB):c.-137C>T	SNV Germline	Chr11:5227158	Pathogenic	beta Thalassemia Hb SS disease Condition: not provided Beta thalassemia intermedia	Criteria Provided Multiple Submitters No Conflicts	CA213884	rs_33941377	5 SubmittersRCV000445650 RCV001004365 RCV001379381 RCV003317048
NM_000518.5(HBB):c.-31C>T	SNV Germline	Chr11:5227052	Conflicting classifications of pathogenicity	beta Thalassemia Condition: not provided Fetal hemoglobin quantitative trait locus 1 Hb SS disease Hemoglobin E not specified Dominant beta-thalassemia	Criteria Provided Conflicting Classifications	CA342844	rs_63750628	6 SubmittersRCV000029956 RCV000755548 RCV001104362 RCV001104361 RCV001104363 RCV001420720 RCV002272029
NM_000518.5(HBB):c.-50A>C	SNV Germline	Chr11:5227071	Pathogenic	beta Thalassemia Condition: not provided Beta-plus-thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA342845	rs_34305195	7 SubmittersRCV000029957 RCV000508619 RCV001838527
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	Criteria Provided Conflicting Classifications	CA342847	rs_63750400	5 SubmittersRCV000029959 RCV000508639 RCV000984184 RCV004532418
NM_000518.4(HBB):c.-92C>G	SNV Germline	Chr11:5227113	Conflicting classifications of pathogenicity	beta Thalassemia Condition: not provided	Criteria Provided Conflicting Classifications	CA342848	rs_397515291	4 SubmittersRCV000029963 RCV000759806
NM_000518.5(HBB):c.2T>C (p.Met1Thr)	SNV Germline	Chr11:5227020	Pathogenic/Likely pathogenic	Beta zero thalassemia Beta-thalassemia, lermontov type beta Thalassemia Condition: not provided Beta-thalassemia HBB/LCRB	Criteria Provided Multiple Submitters No Conflicts	CA125301	rs_33941849	9 SubmittersRCV000016692 RCV000016693 RCV000029976 RCV000508042 RCV002465492
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 SubmittersRCV000016714 RCV000029979 RCV000985748
NM_000518.5(HBB):c.316-14T>G	SNV Germline	Chr11:5225740	Pathogenic/Likely pathogenic	beta Thalassemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342858	rs_35703285	9 SubmittersRCV000029980 RCV000759066
NM_000518.5(HBB):c.324C>T (p.Gly108=)	SNV Germline	Chr11:5225718	Conflicting classifications of pathogenicity	not specified Condition: not provided Hb SS disease Fetal hemoglobin quantitative trait locus 1 beta Thalassemia Hemoglobin E	Criteria Provided Conflicting Classifications	CA342866	rs_193922562	6 SubmittersRCV000507146 RCV000759069 RCV001103969 RCV001103966 RCV001103967 RCV001103968
NM_000518.5(HBB):c.402G>C (p.Val134=)	SNV Germline	Chr11:5225640	Conflicting classifications of pathogenicity	beta Thalassemia Condition: not provided Hemoglobin E Fetal hemoglobin quantitative trait locus 1 Hb SS disease Inborn genetic diseases HBB-related disorder	Criteria Provided Conflicting Classifications	CA342870	rs_113082294	9 SubmittersRCV000029995 RCV000860902 RCV001107581 RCV001107580 RCV001107582 RCV002354172 RCV004532419
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	8 SubmittersRCV000029999 RCV000755281 RCV004541025
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	Criteria Provided Multiple Submitters No Conflicts	CA213889	rs_33978907	11 SubmittersRCV000016730 RCV000445649 RCV000506540 RCV001004557 RCV004566754
NM_000518.5(HBB):c.92+2T>C	SNV Germline	Chr11:5226928	Pathogenic	beta Thalassemia Condition: not provided 9 conditions Beta zero thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA342876	rs_33956879	8 SubmittersRCV000030003 RCV000506748 RCV002496456 RCV003991531
NM_000518.5(HBB):c.92G>A (p.Arg31Lys)	SNV Germline	Chr11:5226930	Pathogenic/Likely pathogenic	beta Thalassemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342877	rs_33960103	7 SubmittersRCV000030006 RCV000506003
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 SubmittersRCV000030010 RCV000860961 RCV003323278 RCV004532420
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	7 SubmittersRCV000016710 RCV000030011 RCV002222330 RCV002477023
NM_000518.5(HBB):c.48G>A (p.Trp16Ter)	SNV Germline	Chr11:5226974	Pathogenic	beta Thalassemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA217115390	rs_34716011	10 SubmittersRCV000589075 RCV000508624
NM_000518.5(HBB):c.79G>T (p.Glu27Ter)	SNV Germline	Chr11:5226943	Pathogenic	Condition: not provided beta Thalassemia Hemoglobinopathy	Criteria Provided Multiple Submitters No Conflicts	CA217115188	rs_33950507	7 SubmittersRCV000507549 RCV000674991 RCV000781460
NM_000518.5(HBB):c.92+2T>A	SNV Germline	Chr11:5226928	Pathogenic	Beta zero thalassemia Condition: not provided beta Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA217115033	rs_33956879	8 SubmittersRCV000016739 RCV000506130 RCV000665219
NM_000518.5(HBB):c.316-1G>T	SNV Germline	Chr11:5225727	Pathogenic/Likely pathogenic	Condition: not provided beta Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA217112852	rs_33952266	3 SubmittersRCV000506832 RCV001078269
NM_000518.5(HBB):c.90C>T (p.Gly30=)	SNV Germline	Chr11:5226932	Conflicting classifications of pathogenicity	beta Thalassemia Condition: not provided	Criteria Provided Conflicting Classifications	CA5839812	rs_35578002	7 SubmittersRCV000588766 RCV001269729
NM_000518.5(HBB):c.315+1G>C	SNV Germline	Chr11:5226576	Pathogenic/Likely pathogenic	beta Thalassemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA346836	rs_33945777	3 SubmittersRCV000169544 RCV001850405
NM_000517.6(HBA2):c.*94A>G	SNV Germline	Chr16:173694	Conflicting classifications of pathogenicity	alpha Thalassemia Condition: not provided alpha Thalassemia Hemoglobin H disease Heinz body anemia Erythrocytosis, familial, 7 Hemoglobin H disease beta Thalassemia	Criteria Provided Conflicting Classifications	CA16602272	rs_63751269	9 SubmittersRCV000417217 RCV001800666 RCV002502453 RCV003989109 RCV004017607
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 SubmittersRCV000445641 RCV002265766 RCV002522737
NM_000518.5(HBB):c.316-7C>G	SNV Germline	Chr11:5225733	Conflicting classifications of pathogenicity	beta Thalassemia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA16609383	rs_34483965	5 SubmittersRCV000445651 RCV001284152 RCV000781440
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 SubmittersRCV000445652 RCV002522736
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	4 SubmittersRCV000445640 RCV000781439 RCV002522735
NM_000518.5(HBB):c.-138C>A	SNV Germline	Chr11:5227159	Conflicting classifications of pathogenicity	Beta-plus-thalassemia beta Thalassemia Condition: not provided 9 conditions Hemoglobinopathy not specified	Criteria Provided Conflicting Classifications	CA16609387	rs_33944208	12 SubmittersRCV000016721 RCV000445645 RCV000505872 RCV000762846 RCV000781451 RCV003488595
NM_000518.5(HBB):c.316-125A>G	SNV Germline	Chr11:5225851	Conflicting classifications of pathogenicity	Condition: not provided not specified beta Thalassemia HBB-related disorder	Criteria Provided Conflicting Classifications	CA217112977	rs_63751175	8 SubmittersRCV000508509 RCV001281704 RCV001078266 RCV004541579
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 SubmittersRCV000506362 RCV001078426
NM_000518.5(HBB):c.274C>T (p.Leu92=)	SNV Germline	Chr11:5226618	Conflicting classifications of pathogenicity	not specified Condition: not provided Hemoglobin E beta Thalassemia Hb SS disease Fetal hemoglobin quantitative trait locus 1	Criteria Provided Conflicting Classifications	CA5839740	rs_769583496	5 SubmittersRCV000507587 RCV000756242 RCV001104256 RCV001104257 RCV001104258 RCV001104255
NM_000518.5(HBB):c.93-1G>C	SNV Germline	Chr11:5226800	Pathogenic	Beta zero thalassemia Condition: not provided beta Thalassemia Beta-thalassemia major	Criteria Provided Multiple Submitters No Conflicts	CA5839768	rs_33943001	7 SubmittersRCV000016769 RCV000506434 RCV001078336 RCV001375484
NM_000518.5(HBB):c.93-2A>C	SNV Germline	Chr11:5226801	Pathogenic	Condition: not provided Hemoglobinopathy beta Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA379274661	rs_63750513	4 SubmittersRCV000507399 RCV000780315 RCV001078337
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	7 SubmittersRCV000757356 RCV001374655 RCV002455977 RCV004535634
NM_000518.5(HBB):c.1A>G (p.Met1Val)	SNV Germline	Chr11:5227021	Pathogenic	Condition: not provided Hemoglobinopathy beta Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA217115654	rs_34563000	5 SubmittersRCV000507448 RCV000780324 RCV001078261
NM_000518.5(HBB):c.-82C>T	SNV Germline	Chr11:5227103	Conflicting classifications of pathogenicity	Condition: not provided not specified beta Thalassemia	Criteria Provided Conflicting Classifications	CA217115785	rs_34500389	5 SubmittersRCV000507303 RCV000855594 RCV001078343
NM_000518.5(HBB):c.294C>T (p.His98=)	SNV Germline	Chr11:5226598	Conflicting classifications of pathogenicity	not specified Condition: not provided beta Thalassemia Hemoglobin E Hb SS disease Fetal hemoglobin quantitative trait locus 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5839738	rs_34515413	7 SubmittersRCV000506063 RCV000585933 RCV001103970 RCV001103972 RCV001104254 RCV001103971 RCV003159645
NM_000518.5(HBB):c.246C>A (p.Leu82=)	SNV Germline	Chr11:5226646	Conflicting classifications of pathogenicity	not specified Condition: not provided Hb SS disease Fetal hemoglobin quantitative trait locus 1 beta Thalassemia Hemoglobin E	Criteria Provided Conflicting Classifications	CA5839741	rs_145669504	6 SubmittersRCV000505921 RCV000759796 RCV001104261 RCV001107021 RCV001104259 RCV001104260
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 SubmittersRCV000506586 RCV001078348 RCV003558431
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 SubmittersRCV000588257 RCV000985744
NM_000518.5(HBB):c.93-6C>T	SNV Germline	Chr11:5226805	Conflicting classifications of pathogenicity	Condition: not provided beta Thalassemia	Criteria Provided Conflicting Classifications	CA658683676	rs_1554918048	3 SubmittersRCV000588998 RCV001834855
NM_000518.5(HBB):c.316-1G>A	SNV Germline	Chr11:5225727	Pathogenic/Likely pathogenic	Beta zero thalassemia Hemoglobinopathy beta Thalassemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_33952266	6 SubmittersRCV000736022 RCV001199849 RCV000668023 RCV003558495
NM_000518.5(HBB):c.316-7C>A	SNV Germline	Chr11:5225733	Conflicting classifications of pathogenicity	Hb SS disease not specified beta Thalassemia Condition: not provided	Criteria Provided Conflicting Classifications		rs_34483965	7 SubmittersRCV001004563 RCV001000150 RCV000667076 RCV001283996
NM_000518.5(HBB):c.93-15T>G	SNV Germline	Chr11:5226814	Pathogenic/Likely pathogenic	Beta zero thalassemia beta Thalassemia Beta-thalassemia HBB/LCRB	Criteria Provided Multiple Submitters No Conflicts		rs_35456885	6 SubmittersRCV000016713 RCV000665080 RCV004568488
NM_000518.5(HBB):c.91A>C (p.Arg31=)	SNV Germline	Chr11:5226931	Likely pathogenic	beta Thalassemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_35684407	3 SubmittersRCV000721920 RCV001284494
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		rs_33913413	3 SubmittersRCV000016767 RCV000759068 RCV001078322
NM_000518.5(HBB):c.315+1G>T	SNV Germline	Chr11:5226576	Pathogenic	Condition: not provided beta Thalassemia	Criteria Provided Multiple Submitters No Conflicts		rs_33945777	4 SubmittersRCV000759065 RCV001170018
NM_000518.5(HBB):c.92+2T>G	SNV Germline	Chr11:5226928	Pathogenic	Beta zero thalassemia Condition: not provided not specified beta Thalassemia	Criteria Provided Multiple Submitters No Conflicts		rs_33956879	5 SubmittersRCV000016697 RCV000759805 RCV001001413 RCV001078334
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		rs_185607297	4 SubmittersRCV000780328 RCV000937128 RCV003315253
NM_000518.4(HBB):c.-121C>T	SNV Germline	Chr11:5227142	Pathogenic/Likely pathogenic	Condition: not provided beta Thalassemia	Criteria Provided Multiple Submitters No Conflicts		rs_281864518	5 SubmittersRCV000985736 RCV001078347
NM_000518.5(HBB):c.*108A>G	SNV Germline	Chr11:5225490	Pathogenic	beta Thalassemia	No Assertion Criteria Provided		rs_1847518799	1 SubmittersRCV001078298
NM_000518.5(HBB):c.*32A>C	SNV Germline	Chr11:5225566	Pathogenic	beta Thalassemia	No Assertion Criteria Provided		rs_1847520793	1 SubmittersRCV001078301
NM_000518.5(HBB):c.397A>T (p.Lys133Ter)	SNV Germline	Chr11:5225645	Pathogenic	beta Thalassemia	No Assertion Criteria Provided		rs_33953406	1 SubmittersRCV001078375
NM_000518.5(HBB):c.394C>T (p.Gln132Ter)	SNV Germline	Chr11:5225648	Pathogenic	beta Thalassemia	No Assertion Criteria Provided		rs_33910209	1 SubmittersRCV001078372
NM_000518.5(HBB):c.339T>A (p.Cys113Ter)	SNV Germline	Chr11:5225703	Pathogenic	beta Thalassemia	No Assertion Criteria Provided		rs_33930977	1 SubmittersRCV001078327
NM_000518.5(HBB):c.199A>T (p.Lys67Ter)	SNV Germline	Chr11:5226693	Pathogenic	beta Thalassemia	No Assertion Criteria Provided		rs_34165323	1 SubmittersRCV001078258
NM_000518.5(HBB):c.178A>T (p.Lys60Ter)	SNV Germline	Chr11:5226714	Pathogenic	beta Thalassemia	No Assertion Criteria Provided		rs_33969400	1 SubmittersRCV001078251
NM_000518.5(HBB):c.108C>G (p.Tyr36Ter)	SNV Germline	Chr11:5226784	Pathogenic	beta Thalassemia	No Assertion Criteria Provided		rs_33982568	1 SubmittersRCV001078305
NM_000518.5(HBB):c.107A>G (p.Tyr36Cys)	SNV Germline	Chr11:5226785	Pathogenic	beta Thalassemia	No Assertion Criteria Provided		rs_35857380	1 SubmittersRCV001078303
NM_000518.5(HBB):c.93G>C (p.Arg31Ser)	SNV Germline	Chr11:5226799	Pathogenic	beta Thalassemia	No Assertion Criteria Provided		rs_1135071	1 SubmittersRCV001078384
NM_000518.5(HBB):c.91A>G (p.Arg31Gly)	SNV Germline	Chr11:5226931	Pathogenic	beta Thalassemia	No Assertion Criteria Provided		rs_35684407	1 SubmittersRCV001078278
NM_000518.5(HBB):c.67G>T (p.Glu23Ter)	SNV Germline	Chr11:5226955	Pathogenic	beta Thalassemia Condition: not provided	Criteria Provided Single Submitter		rs_33959855	2 SubmittersRCV001078431 RCV001862655
NM_000518.5(HBB):c.22G>T (p.Glu8Ter)	SNV Germline	Chr11:5227000	Pathogenic	beta Thalassemia Condition: not provided	Criteria Provided Single Submitter		rs_34948328	2 SubmittersRCV001078316 RCV003478695
NM_000518.5(HBB):c.19G>T (p.Glu7Ter)	SNV Germline	Chr11:5227003	Pathogenic	beta Thalassemia	No Assertion Criteria Provided		rs_33930165	1 SubmittersRCV001078259
NM_000518.5(HBB):c.3G>T (p.Met1Ile)	SNV Germline	Chr11:5227019	Pathogenic	beta Thalassemia	No Assertion Criteria Provided		rs_33930702	1 SubmittersRCV001078378
NM_000518.5(HBB):c.3G>C (p.Met1Ile)	SNV Germline	Chr11:5227019	Pathogenic	beta Thalassemia	No Assertion Criteria Provided		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		rs_34563000	3 SubmittersRCV001078260 RCV001811644
NC_000011.10:g.5227096C>A	SNV Germline	Chr11:5227096	Pathogenic	beta Thalassemia	No Assertion Criteria Provided		rs_63750400	1 SubmittersRCV001078295
NC_000011.10:g.5227097T>G	SNV Germline	Chr11:5227097	Pathogenic	beta Thalassemia	No Assertion Criteria Provided		rs_281864525	1 SubmittersRCV001078338
NC_000011.10:g.5227098T>A	SNV Germline	Chr11:5227098	Pathogenic	beta Thalassemia	No Assertion Criteria Provided		rs_1847591425	1 SubmittersRCV001078339
NM_000518.4(HBB):c.-79A>C	SNV Germline	Chr11:5227100	Pathogenic	beta Thalassemia Condition: not provided	Criteria Provided Single Submitter		rs_34598529	2 SubmittersRCV001078340 RCV003478696
NC_000011.10:g.5227101A>C	SNV Germline	Chr11:5227101	Pathogenic	beta Thalassemia	No Assertion Criteria Provided		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		rs_33980857	4 SubmittersRCV000016726 RCV001078342 RCV001284493
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		rs_1272414751	4 SubmittersRCV001078393 RCV001824922 RCV003478697
NC_000011.10:g.5227147G>T	SNV Germline	Chr11:5227147	Pathogenic	beta Thalassemia	No Assertion Criteria Provided		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		rs_35099082	3 SubmittersRCV001078427 RCV003327489
NM_000518.5(HBB):c.315+2T>C	SNV Germline	Chr11:5226575	Pathogenic	beta Thalassemia	No Assertion Criteria Provided		rs_63750283	1 SubmittersRCV001078425
NM_000518.5(HBB):c.92+1G>C	SNV Germline	Chr11:5226929	Pathogenic	beta Thalassemia	No Assertion Criteria Provided		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		rs_33958088	3 SubmittersRCV001107681 RCV001107680 RCV001107682 RCV001107683 RCV001174809 RCV002069760
NM_000518.5(HBB):c.60C>T (p.Asn20=)	SNV Germline	Chr11:5226962	Conflicting classifications of pathogenicity	Condition: not provided beta Thalassemia	Criteria Provided Conflicting Classifications		rs_63750840	3 SubmittersRCV001400263 RCV001836395
NM_000518.4(HBB):c.-136C>A	SNV Germline	Chr11:5227157	Likely pathogenic	beta Thalassemia	Criteria Provided Single Submitter			1 SubmittersRCV003236443

SNV
Germline

Chr11:5227003

Pathogenic

Malaria, resistance to
HEMOGLOBIN C
Hb SS disease
Condition: not provided
beta Thalassemia
9 conditions
Heinz body anemia
Inborn genetic diseases
Beta-thalassemia HBB/LCRB
HBB-related disorder
Inherited hemoglobinopathy
Hereditary persistence of fetal hemoglobin
Sickle cell-hemoglobin C disease

Criteria Provided
Multiple Submitters
No Conflicts

CA124780

rs_33930165

28 SubmittersRCV000016285 RCV000016284 RCV000202507 RCV000224028 RCV000576347 RCV001535943 RCV001813746 RCV002415418 RCV002288494 RCV003335041 RCV004017254 RCV003137529 RCV003150807

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
not specified
Hb SS disease
Hemoglobin E
beta Thalassemia
Hb SS disease
Fetal hemoglobin quantitative trait locus 1
Dominant beta-thalassemia
Fetal hemoglobin quantitative trait locus 1
9 conditions

Criteria Provided
Conflicting Classifications

CA124797

rs_33947415

15 SubmittersRCV000016301 RCV000396079 RCV000587680 RCV000855646 RCV001004567 RCV001107022 RCV000709890 RCV001107023 RCV001535933

NM_000518.4(HBB):c.388G>C (p.Ala130Pro)

SNV
Germline

Chr11:5225654

Likely pathogenic

HEMOGLOBIN CRETE
beta Thalassemia

Criteria Provided
Single Submitter

CA124812

rs_35939430

2 SubmittersRCV000016309 RCV001823097

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 SubmittersRCV000016310 RCV000641434 RCV001374642

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 SubmittersRCV000016313 RCV000506646 RCV001826463

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
HBB-related disorder
Condition: not provided
Hemoglobin D disease
Heinz body anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA124824

rs_33946267

17 SubmittersRCV000016317 RCV000029994 RCV000202465 RCV000778329 RCV000723826 RCV001175348 RCV002247348

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
Inborn genetic diseases
Beta-thalassemia HBB/LCRB
HBB-related disorder
Malaria, susceptibility to

Criteria Provided
Multiple Submitters
No Conflicts

CA124838

rs_33950507

25 SubmittersRCV000016329 RCV000016330 RCV000016331 RCV000016332 RCV000202534 RCV000506024 RCV000521111 RCV000496072 RCV000778330 RCV000853358 RCV001536065 RCV002415419 RCV002288495 RCV004532365 RCV003989105

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 SubmittersRCV000016371 RCV000016372 RCV000016373 RCV000757359 RCV001831570

NM_000518.5(HBB):c.380T>A (p.Val127Glu)

SNV
Germline

Chr11:5225662

Conflicting classifications of pathogenicity

HEMOGLOBIN HOFU
Condition: not provided
beta Thalassemia

Criteria Provided
Conflicting Classifications

CA124912

rs_33925391

5 SubmittersRCV000016384 RCV000759797 RCV001507092

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 SubmittersRCV000016385 RCV000029996 RCV001004558 RCV001284489 RCV002321485 RCV002290955

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

Criteria Provided
Multiple Submitters
No Conflicts

CA213890

rs_33960103

14 SubmittersRCV000016432 RCV000506942 RCV001004351 RCV001794452 RCV003338382

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

SNV
Germline

Chr11:5226940

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA124983

rs_35424040

13 SubmittersRCV000016439 RCV000016440 RCV000016441 RCV000169609 RCV000757368 RCV000780311 RCV001004353 RCV003992156

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

5 SubmittersRCV000016443 RCV000016446 RCV001826464 RCV001811157

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 SubmittersRCV000016449 RCV000587238 RCV000855647 RCV001826465

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125011

rs_33922873

4 SubmittersRCV000016466 RCV000641524 RCV000988480 RCV001266995

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
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA125015

rs_33972047

7 SubmittersRCV000016479 RCV000016480 RCV000016481 RCV000020338 RCV000508637 RCV001000121

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 SubmittersRCV000016504 RCV000016505 RCV000016506 RCV000016507 RCV000016508 RCV000506157 RCV000755549 RCV001835628

NM_000518.4(HBB):c.364G>A (p.Glu122Lys)

SNV
Germline

Chr11:5225678

Pathogenic/Likely pathogenic

HEMOGLOBIN EGYPT
HEMOGLOBIN O (ARAB)
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 SubmittersRCV000016525 RCV000016524 RCV000029993 RCV000202511 RCV000508438 RCV000587075 RCV002476974

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 SubmittersRCV000016537 RCV000029964 RCV001811161

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

4 SubmittersRCV000016563 RCV000781459 RCV001811163 RCV001831571

NM_000518.5(HBB):c.328G>A (p.Val110Met)

SNV
Germline

Chr11:5225714

Pathogenic/Likely pathogenic

HEMOGLOBIN SAN DIEGO
beta Thalassemia
Erythrocytosis, familial, 6
Hemoglobinopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA125147

rs_33969677

5 SubmittersRCV000016585 RCV000169614 RCV000641606 RCV001553627 RCV003476897

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125166

rs_35256489

6 SubmittersRCV000016598 RCV000016599 RCV000016600 RCV000589517 RCV001004561 RCV002476975

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125257

rs_33986703

15 SubmittersRCV000016655 RCV000020337 RCV000507505 RCV000763255 RCV001004355 RCV002288498

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

SNV
Germline

Chr11:5226774

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125259

rs_11549407

36 SubmittersRCV000016656 RCV000254827 RCV000379715 RCV001004570 RCV001197268 RCV002221479 RCV002288499 RCV002336086 RCV002476976 RCV004532366 RCV003987324

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

SNV
Germline

Chr11:5226975

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125261

rs_63750783

14 SubmittersRCV000016657 RCV000576738 RCV000508601 RCV001004356 RCV003985073

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125263

rs_33946267

8 SubmittersRCV000016658 RCV000507274 RCV001004560 RCV000984185

NM_000518.5(HBB):c.114G>A (p.Trp38Ter)

SNV
Germline

Chr11:5226778

Pathogenic/Likely pathogenic

Beta zero thalassemia
beta Thalassemia
Condition: not provided
not specified
Hemoglobinopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA125265

rs_33974936

9 SubmittersRCV000016659 RCV000169502 RCV000506223 RCV000999750 RCV000781456

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

SNV
Germline

Chr11:5226762

Pathogenic

Beta zero thalassemia
beta Thalassemia
Hb SS disease
Condition: not provided
Hemoglobinopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA125267

rs_33922842

10 SubmittersRCV000016660 RCV000665678 RCV001004568 RCV000506797 RCV000780310

NM_000518.5(HBB):c.184A>T (p.Lys62Ter)

SNV
Germline

Chr11:5226708

Pathogenic

Beta zero thalassemia
beta Thalassemia
Condition: not provided
9 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA125269

rs_33995148

6 SubmittersRCV000016661 RCV001078254 RCV000506527 RCV002504795

NM_000518.5(HBB):c.108C>A (p.Tyr36Ter)

SNV
Germline

Chr11:5226784

Pathogenic

Beta zero thalassemia
beta Thalassemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA125271

rs_33982568

5 SubmittersRCV000016662 RCV001078304 RCV001800305

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125299

rs_33941849

9 SubmittersRCV000016691 RCV000505904 RCV000664667 RCV001004361

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
9 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA125303

rs_33971440

28 SubmittersRCV000016694 RCV000020340 RCV000390929 RCV001004350 RCV001329338 RCV002288501 RCV002476978

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

SNV
Germline

Chr11:5226929

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125304

rs_33971440

15 SubmittersRCV000016695 RCV000169505 RCV000507580 RCV001004349 RCV002482875 RCV002444432 RCV004532369

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

SNV
Germline

Chr11:5226576

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125305

rs_33945777

24 SubmittersRCV000016696 RCV000020332 RCV000255349 RCV001004566 RCV001731303 RCV001723572 RCV002476979 RCV002288502 RCV003987325

NM_000518.5(HBB):c.93-1G>A

SNV
Germline

Chr11:5226800

Pathogenic

Beta zero thalassemia
Condition: not provided
beta Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA125309

rs_33943001

6 SubmittersRCV000016704 RCV000508208 RCV000587419

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

SNV
Germline

Chr11:5226925

Pathogenic

Beta-plus-thalassemia
beta Thalassemia
Condition: not provided
9 conditions
Hb SS disease
Beta-thalassemia major
Beta-thalassemia HBB/LCRB
Inborn genetic diseases
Hereditary persistence of fetal hemoglobin
Malaria, susceptibility to

Criteria Provided
Multiple Submitters
No Conflicts

CA125310

rs_33915217

28 SubmittersRCV000016705 RCV000020341 RCV000255746 RCV000763253 RCV001004348 RCV001794453 RCV002288503 RCV002444433 RCV003445071 RCV003987326

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

SNV
Germline

Chr11:5226925

Pathogenic

Beta-plus-thalassemia
Beta-thalassemia major
Condition: not provided
beta Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA125311

rs_33915217

9 SubmittersRCV000016706 RCV000030005 RCV000505898 RCV000984182

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

SNV
Germline

Chr11:5226925

Pathogenic/Likely pathogenic

Beta-plus-thalassemia
beta Thalassemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA125312

rs_33915217

7 SubmittersRCV000016707 RCV000030004 RCV001216321

NM_000518.5(HBB):c.92+6T>C

SNV
Germline

Chr11:5226924

Conflicting classifications of pathogenicity

Beta-plus-thalassemia
Condition: not provided
beta Thalassemia
9 conditions
Hb SS disease
Fetal hemoglobin quantitative trait locus 1
Hemoglobin E
Inborn genetic diseases
Heinz body anemia
Malaria, susceptibility to
Beta-thalassemia HBB/LCRB
HBB-related disorder

Criteria Provided
Conflicting Classifications

CA125313

rs_35724775

22 SubmittersRCV000016708 RCV000417932 RCV000415353 RCV000763252 RCV001004347 RCV001107024 RCV001107025 RCV002371774 RCV002247349 RCV003988822 RCV004566748 RCV004532370

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125314

rs_33913413

13 SubmittersRCV000016709 RCV000029987 RCV000506607 RCV000984183 RCV002496382 RCV004528115

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
Condition: not provided
Hb SS disease
Fetal hemoglobin quantitative trait locus 1
Inborn genetic diseases
Beta-thalassemia HBB/LCRB
Malaria, susceptibility to

Criteria Provided
Multiple Submitters
No Conflicts

CA125315

rs_35004220

30 SubmittersRCV000016712 RCV000020343 RCV000030008 RCV000763251 RCV000799079 RCV001004346 RCV001262998 RCV002371775 RCV002288504 RCV003989289

NM_000518.5(HBB):c.316-106C>G

SNV
Germline

Chr11:5225832

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125316

rs_34690599

19 SubmittersRCV000016715 RCV000029978 RCV000506445 RCV001004564 RCV002272021 RCV002288505 RCV002476980

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

SNV
Germline

Chr11:5225923

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125317

rs_34451549

11 SubmittersRCV000016716 RCV000020334 RCV000029984 RCV001004565 RCV000794203 RCV004532371

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.-138C>T

SNV
Germline

Chr11:5227159

Pathogenic/Likely pathogenic

Beta-plus-thalassemia
beta Thalassemia
Condition: not provided
Hemoglobinopathy
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA125320

rs_33944208

10 SubmittersRCV000016718 RCV000020324 RCV000507151 RCV000781453 RCV002390113

NM_000518.5(HBB):c.-151C>T

SNV
Germline

Chr11:5227172

Conflicting classifications of pathogenicity

Beta-plus-thalassemia
beta Thalassemia
Condition: not provided
Malaria, susceptibility to
9 conditions
Beta-thalassemia HBB/LCRB
HBB-related disorder

Criteria Provided
Conflicting Classifications

CA125321

rs_63751208

16 SubmittersRCV000016719 RCV000169081 RCV000820736 RCV003989290 RCV002496384 RCV004566749 RCV004532372

NM_000518.5(HBB):c.-142C>T

SNV
Germline

Chr11:5227163

Pathogenic

Beta-plus-thalassemia
Beta thalassemia intermedia
beta Thalassemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA125322

rs_34883338

4 SubmittersRCV000016720 RCV000589915 RCV000445639 RCV003476899

NM_000518.5(HBB):c.-137C>G

SNV
Germline

Chr11:5227158

Pathogenic/Likely pathogenic

Beta-plus-thalassemia
Beta thalassemia intermedia
Condition: not provided
beta Thalassemia
9 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA125323

rs_33941377

10 SubmittersRCV000016722 RCV000029951 RCV000507653 RCV000445653 RCV002496385

NM_000518.4(HBB):c.-136C>G

SNV
Germline

Chr11:5227157

Pathogenic/Likely pathogenic

Beta-plus-thalassemia
beta Thalassemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA125324

rs_33994806

8 SubmittersRCV000016723 RCV000029948 RCV000505925

NM_000518.5(HBB):c.-81A>G

SNV
Germline

Chr11:5227102

Pathogenic

Beta-plus-thalassemia
beta Thalassemia
Condition: not provided
Beta thalassemia intermedia

Criteria Provided
Multiple Submitters
No Conflicts

CA125325

rs_33981098

8 SubmittersRCV000016724 RCV000445643 RCV000506722 RCV001255596

NM_000518.4(HBB):c.-80T>A

SNV
Germline

Chr11:5227101

Pathogenic

Beta-plus-thalassemia
beta Thalassemia
Condition: not provided
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA125326

rs_33980857

7 SubmittersRCV000016725 RCV000029962 RCV000508486 RCV001000147

NM_000518.5(HBB):c.-79A>G

SNV
Germline

Chr11:5227100

Pathogenic

Beta-plus-thalassemia
beta Thalassemia
Condition: not provided
Heinz body anemia
9 conditions
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA125327

rs_34598529

14 SubmittersRCV000016727 RCV000020326 RCV000810653 RCV002247350 RCV002476981 RCV002415420

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

SNV
Germline

Chr11:5227099

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125328

rs_33931746

10 SubmittersRCV000016728 RCV000589656 RCV000508592 RCV001004363 RCV002482876

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125329

rs_33931746

10 SubmittersRCV000016729 RCV000029960 RCV000506257 RCV001004362

NM_000518.5(HBB):c.*113A>G

SNV
Germline

Chr11:5225485

Pathogenic/Likely pathogenic

Beta-plus-thalassemia
beta Thalassemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA125330

rs_33985472

5 SubmittersRCV000016731 RCV000445642 RCV002513070

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125340

rs_33925391

7 SubmittersRCV000016741 RCV000674175 RCV000756239 RCV001260263

NM_000518.5(HBB):c.*111A>G

SNV
Germline

Chr11:5225487

Pathogenic

Beta-plus-thalassemia
beta Thalassemia
Hemoglobinopathy
Beta-thalassemia HBB/LCRB
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA125347

rs_63751128

8 SubmittersRCV000016748 RCV000445654 RCV001193152 RCV004566750 RCV000506983

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 SubmittersRCV000016766 RCV001078368 RCV003556031

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

rs_33952266

3 SubmittersRCV000016774 RCV001078268 RCV001800306

NM_000518.5(HBB):c.344T>C (p.Leu115Pro)

SNV
Germline

Chr11:5225698

Pathogenic

HEMOGLOBIN BRESCIA
HEMOGLOBIN DURHAM-N.C.
Beta thalassemia intermedia
Condition: not provided
Dominant beta-thalassemia
beta Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA125376

rs_36015961

5 SubmittersRCV000016776 RCV000016777 RCV000016775 RCV000759070 RCV001731305 RCV001826469

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
Beta-thalassemia HBB/LCRB
HBB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA125377

rs_34999973

11 SubmittersRCV000016778 RCV000029954 RCV000202364 RCV001069376 RCV002288506 RCV002260510

NM_000518.5(HBB):c.3G>A (p.Met1Ile)

SNV
Germline

Chr11:5227019

Pathogenic

Beta zero thalassemia
not specified
Condition: not provided
beta Thalassemia
Dominant beta-thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA125383

rs_33930702

5 SubmittersRCV000016783 RCV000506641 RCV000508308 RCV001078376 RCV002222353

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 SubmittersRCV000016802 RCV001078371

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

rs_63750513

4 SubmittersRCV000016828 RCV000988481 RCV003476900

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

5 SubmittersRCV000016855 RCV000588829 RCV000855596 RCV001835629

NM_000517.4(HBA2):c.427T>A (p.Ter143Lys)

SNV
Germline

Chr16:173598

Conflicting classifications of pathogenicity

HEMOGLOBIN ICARIA
Hemoglobin H disease, nondeletional
Condition: not provided
alpha Thalassemia
beta Thalassemia

Criteria Provided
Conflicting Classifications

CA125550

rs_41464951

5 SubmittersRCV000016893 RCV000022603 RCV000985726 RCV002250461 RCV004017255

NM_000517.6(HBA2):c.*92A>G

SNV
Germline

Chr16:173692

Pathogenic/Likely pathogenic

Alpha-thalassemia-2, nondeletional
Hemoglobin H disease, nondeletional
Condition: not provided
alpha Thalassemia
Hemoglobin H disease
alpha Thalassemia
Heinz body anemia
Erythrocytosis, familial, 7
Hemoglobin H disease
beta Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA125586

rs_63750067

8 SubmittersRCV000016933 RCV000022604 RCV000507591 RCV001831575 RCV002476983 RCV003989291 RCV004017256

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

7 SubmittersRCV000016702 RCV000020335 RCV000507767 RCV001290616

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

Criteria Provided
Multiple Submitters
No Conflicts

CA341711

rs_33914668

13 SubmittersRCV000016701 RCV000020336 RCV000508360 RCV001004562 RCV002504815 RCV003389313

NM_000518.4(HBB):c.-133G>A

SNV
Germline

Chr11:5227154

Conflicting classifications of pathogenicity

beta Thalassemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA342841

rs_72561473

4 SubmittersRCV000029947 RCV000861030

NM_000518.5(HBB):c.-136C>T

SNV
Germline

Chr11:5227157

Likely pathogenic

beta Thalassemia

Criteria Provided
Single Submitter

CA342842

rs_33994806

1 SubmittersRCV000029949

NM_000518.5(HBB):c.-137C>A

SNV
Germline

Chr11:5227158

Pathogenic/Likely pathogenic

beta Thalassemia
Condition: not provided
9 conditions
Beta thalassemia intermedia
9 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA213883

rs_33941377

8 SubmittersRCV000445644 RCV000506877 RCV000763257 RCV001797592 RCV002496453

NM_000518.4(HBB):c.-137C>T

SNV
Germline

Chr11:5227158

Pathogenic

beta Thalassemia
Hb SS disease
Condition: not provided
Beta thalassemia intermedia

Criteria Provided
Multiple Submitters
No Conflicts

CA213884

rs_33941377

5 SubmittersRCV000445650 RCV001004365 RCV001379381 RCV003317048

NM_000518.5(HBB):c.-31C>T

SNV
Germline

Chr11:5227052

Conflicting classifications of pathogenicity

beta Thalassemia
Condition: not provided
Fetal hemoglobin quantitative trait locus 1
Hb SS disease
Hemoglobin E
not specified
Dominant beta-thalassemia

Criteria Provided
Conflicting Classifications

CA342844

rs_63750628

6 SubmittersRCV000029956 RCV000755548 RCV001104362 RCV001104361 RCV001104363 RCV001420720 RCV002272029

NM_000518.5(HBB):c.-50A>C

SNV
Germline

Chr11:5227071

Pathogenic

beta Thalassemia
Condition: not provided
Beta-plus-thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA342845

rs_34305195

7 SubmittersRCV000029957 RCV000508619 RCV001838527

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

Criteria Provided
Conflicting Classifications

CA342847

rs_63750400

5 SubmittersRCV000029959 RCV000508639 RCV000984184 RCV004532418

NM_000518.4(HBB):c.-92C>G

SNV
Germline

Chr11:5227113

Conflicting classifications of pathogenicity

beta Thalassemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA342848

rs_397515291

4 SubmittersRCV000029963 RCV000759806

NM_000518.5(HBB):c.2T>C (p.Met1Thr)

SNV
Germline

Chr11:5227020

Pathogenic/Likely pathogenic

Beta zero thalassemia
Beta-thalassemia, lermontov type
beta Thalassemia
Condition: not provided
Beta-thalassemia HBB/LCRB

Criteria Provided
Multiple Submitters
No Conflicts

CA125301

rs_33941849

9 SubmittersRCV000016692 RCV000016693 RCV000029976 RCV000508042 RCV002465492

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 SubmittersRCV000016714 RCV000029979 RCV000985748

NM_000518.5(HBB):c.316-14T>G

SNV
Germline

Chr11:5225740

Pathogenic/Likely pathogenic

beta Thalassemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342858

rs_35703285

9 SubmittersRCV000029980 RCV000759066

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

SNV
Germline

Chr11:5225718

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hb SS disease
Fetal hemoglobin quantitative trait locus 1
beta Thalassemia
Hemoglobin E

Criteria Provided
Conflicting Classifications

CA342866

rs_193922562

6 SubmittersRCV000507146 RCV000759069 RCV001103969 RCV001103966 RCV001103967 RCV001103968

NM_000518.5(HBB):c.402G>C (p.Val134=)

SNV
Germline

Chr11:5225640

Conflicting classifications of pathogenicity

beta Thalassemia
Condition: not provided
Hemoglobin E
Fetal hemoglobin quantitative trait locus 1
Hb SS disease
Inborn genetic diseases
HBB-related disorder

Criteria Provided
Conflicting Classifications

CA342870

rs_113082294

9 SubmittersRCV000029995 RCV000860902 RCV001107581 RCV001107580 RCV001107582 RCV002354172 RCV004532419

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

8 SubmittersRCV000029999 RCV000755281 RCV004541025

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

Criteria Provided
Multiple Submitters
No Conflicts

CA213889

rs_33978907

11 SubmittersRCV000016730 RCV000445649 RCV000506540 RCV001004557 RCV004566754

NM_000518.5(HBB):c.92+2T>C

SNV
Germline

Chr11:5226928

Pathogenic

beta Thalassemia
Condition: not provided
9 conditions
Beta zero thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA342876

rs_33956879

8 SubmittersRCV000030003 RCV000506748 RCV002496456 RCV003991531

NM_000518.5(HBB):c.92G>A (p.Arg31Lys)

SNV
Germline

Chr11:5226930

Pathogenic/Likely pathogenic

beta Thalassemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342877

rs_33960103

7 SubmittersRCV000030006 RCV000506003

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 SubmittersRCV000030010 RCV000860961 RCV003323278 RCV004532420

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

7 SubmittersRCV000016710 RCV000030011 RCV002222330 RCV002477023

NM_000518.5(HBB):c.48G>A (p.Trp16Ter)

SNV
Germline

Chr11:5226974

Pathogenic

beta Thalassemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA217115390

rs_34716011

10 SubmittersRCV000589075 RCV000508624

NM_000518.5(HBB):c.79G>T (p.Glu27Ter)

SNV
Germline

Chr11:5226943

Pathogenic

Condition: not provided
beta Thalassemia
Hemoglobinopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA217115188

rs_33950507

7 SubmittersRCV000507549 RCV000674991 RCV000781460

NM_000518.5(HBB):c.92+2T>A

SNV
Germline

Chr11:5226928

Pathogenic

Beta zero thalassemia
Condition: not provided
beta Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA217115033

rs_33956879

8 SubmittersRCV000016739 RCV000506130 RCV000665219

NM_000518.5(HBB):c.316-1G>T

SNV
Germline

Chr11:5225727

Pathogenic/Likely pathogenic

Condition: not provided
beta Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA217112852

rs_33952266

3 SubmittersRCV000506832 RCV001078269

NM_000518.5(HBB):c.90C>T (p.Gly30=)

SNV
Germline

Chr11:5226932

Conflicting classifications of pathogenicity

beta Thalassemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5839812

rs_35578002

7 SubmittersRCV000588766 RCV001269729

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

SNV
Germline

Chr11:5226576

Pathogenic/Likely pathogenic

beta Thalassemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346836

rs_33945777

3 SubmittersRCV000169544 RCV001850405

NM_000517.6(HBA2):c.*94A>G

SNV
Germline

Chr16:173694

Conflicting classifications of pathogenicity

alpha Thalassemia
Condition: not provided
alpha Thalassemia
Hemoglobin H disease
Heinz body anemia
Erythrocytosis, familial, 7
Hemoglobin H disease
beta Thalassemia

Criteria Provided
Conflicting Classifications

CA16602272

rs_63751269

9 SubmittersRCV000417217 RCV001800666 RCV002502453 RCV003989109 RCV004017607

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 SubmittersRCV000445641 RCV002265766 RCV002522737

NM_000518.5(HBB):c.316-7C>G

SNV
Germline

Chr11:5225733

Conflicting classifications of pathogenicity

beta Thalassemia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA16609383

rs_34483965

5 SubmittersRCV000445651 RCV001284152 RCV000781440

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 SubmittersRCV000445652 RCV002522736

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

4 SubmittersRCV000445640 RCV000781439 RCV002522735

NM_000518.5(HBB):c.-138C>A

SNV
Germline

Chr11:5227159

Conflicting classifications of pathogenicity

Beta-plus-thalassemia
beta Thalassemia
Condition: not provided
9 conditions
Hemoglobinopathy
not specified

Criteria Provided
Conflicting Classifications

CA16609387

rs_33944208

12 SubmittersRCV000016721 RCV000445645 RCV000505872 RCV000762846 RCV000781451 RCV003488595

NM_000518.5(HBB):c.316-125A>G

SNV
Germline

Chr11:5225851

Conflicting classifications of pathogenicity

Condition: not provided
not specified
beta Thalassemia
HBB-related disorder

Criteria Provided
Conflicting Classifications

CA217112977

rs_63751175

8 SubmittersRCV000508509 RCV001281704 RCV001078266 RCV004541579

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 SubmittersRCV000506362 RCV001078426

NM_000518.5(HBB):c.274C>T (p.Leu92=)

SNV
Germline

Chr11:5226618

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hemoglobin E
beta Thalassemia
Hb SS disease
Fetal hemoglobin quantitative trait locus 1

Criteria Provided
Conflicting Classifications

CA5839740

rs_769583496

5 SubmittersRCV000507587 RCV000756242 RCV001104256 RCV001104257 RCV001104258 RCV001104255

NM_000518.5(HBB):c.93-1G>C

SNV
Germline

Chr11:5226800

Pathogenic

Beta zero thalassemia
Condition: not provided
beta Thalassemia
Beta-thalassemia major

Criteria Provided
Multiple Submitters
No Conflicts

CA5839768

rs_33943001

7 SubmittersRCV000016769 RCV000506434 RCV001078336 RCV001375484

NM_000518.5(HBB):c.93-2A>C

SNV
Germline

Chr11:5226801

Pathogenic

Condition: not provided
Hemoglobinopathy
beta Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA379274661

rs_63750513

4 SubmittersRCV000507399 RCV000780315 RCV001078337

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

7 SubmittersRCV000757356 RCV001374655 RCV002455977 RCV004535634

NM_000518.5(HBB):c.1A>G (p.Met1Val)

SNV
Germline

Chr11:5227021

Pathogenic

Condition: not provided
Hemoglobinopathy
beta Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA217115654

rs_34563000

5 SubmittersRCV000507448 RCV000780324 RCV001078261

NM_000518.5(HBB):c.-82C>T

SNV
Germline

Chr11:5227103

Conflicting classifications of pathogenicity

Condition: not provided
not specified
beta Thalassemia

Criteria Provided
Conflicting Classifications

CA217115785

rs_34500389

5 SubmittersRCV000507303 RCV000855594 RCV001078343

NM_000518.5(HBB):c.294C>T (p.His98=)

SNV
Germline

Chr11:5226598

Conflicting classifications of pathogenicity

not specified
Condition: not provided
beta Thalassemia
Hemoglobin E
Hb SS disease
Fetal hemoglobin quantitative trait locus 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5839738

rs_34515413

7 SubmittersRCV000506063 RCV000585933 RCV001103970 RCV001103972 RCV001104254 RCV001103971 RCV003159645

NM_000518.5(HBB):c.246C>A (p.Leu82=)

SNV
Germline

Chr11:5226646

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hb SS disease
Fetal hemoglobin quantitative trait locus 1
beta Thalassemia
Hemoglobin E

Criteria Provided
Conflicting Classifications

CA5839741

rs_145669504

6 SubmittersRCV000505921 RCV000759796 RCV001104261 RCV001107021 RCV001104259 RCV001104260

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 SubmittersRCV000506586 RCV001078348 RCV003558431

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 SubmittersRCV000588257 RCV000985744

NM_000518.5(HBB):c.93-6C>T

SNV
Germline

Chr11:5226805

Conflicting classifications of pathogenicity

Condition: not provided
beta Thalassemia

Criteria Provided
Conflicting Classifications

CA658683676

rs_1554918048

3 SubmittersRCV000588998 RCV001834855

NM_000518.5(HBB):c.316-1G>A

SNV
Germline

Chr11:5225727

Pathogenic/Likely pathogenic

Beta zero thalassemia
Hemoglobinopathy
beta Thalassemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_33952266

6 SubmittersRCV000736022 RCV001199849 RCV000668023 RCV003558495

NM_000518.5(HBB):c.316-7C>A

SNV
Germline

Chr11:5225733

Conflicting classifications of pathogenicity

Hb SS disease
not specified
beta Thalassemia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_34483965

7 SubmittersRCV001004563 RCV001000150 RCV000667076 RCV001283996

NM_000518.5(HBB):c.93-15T>G

SNV
Germline

Chr11:5226814

Pathogenic/Likely pathogenic

Beta zero thalassemia
beta Thalassemia
Beta-thalassemia HBB/LCRB

Criteria Provided
Multiple Submitters
No Conflicts

rs_35456885

6 SubmittersRCV000016713 RCV000665080 RCV004568488

NM_000518.5(HBB):c.91A>C (p.Arg31=)

SNV
Germline

Chr11:5226931

Likely pathogenic

beta Thalassemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_35684407

3 SubmittersRCV000721920 RCV001284494

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

rs_33913413

3 SubmittersRCV000016767 RCV000759068 RCV001078322

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

SNV
Germline

Chr11:5226576

Pathogenic

Condition: not provided
beta Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_33945777

4 SubmittersRCV000759065 RCV001170018

NM_000518.5(HBB):c.92+2T>G

SNV
Germline

Chr11:5226928

Pathogenic

Beta zero thalassemia
Condition: not provided
not specified
beta Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_33956879

5 SubmittersRCV000016697 RCV000759805 RCV001001413 RCV001078334

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

rs_185607297

4 SubmittersRCV000780328 RCV000937128 RCV003315253

NM_000518.4(HBB):c.-121C>T

SNV
Germline

Chr11:5227142

Pathogenic/Likely pathogenic

Condition: not provided
beta Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_281864518

5 SubmittersRCV000985736 RCV001078347

NM_000518.5(HBB):c.*108A>G

SNV
Germline

Chr11:5225490

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

rs_1847518799

1 SubmittersRCV001078298

NM_000518.5(HBB):c.*32A>C

SNV
Germline

Chr11:5225566

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

rs_1847520793

1 SubmittersRCV001078301

NM_000518.5(HBB):c.397A>T (p.Lys133Ter)

SNV
Germline

Chr11:5225645

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

rs_33953406

1 SubmittersRCV001078375

NM_000518.5(HBB):c.394C>T (p.Gln132Ter)

SNV
Germline

Chr11:5225648

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

rs_33910209

1 SubmittersRCV001078372

NM_000518.5(HBB):c.339T>A (p.Cys113Ter)

SNV
Germline

Chr11:5225703

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

rs_33930977

1 SubmittersRCV001078327

NM_000518.5(HBB):c.199A>T (p.Lys67Ter)

SNV
Germline

Chr11:5226693

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

rs_34165323

1 SubmittersRCV001078258

NM_000518.5(HBB):c.178A>T (p.Lys60Ter)

SNV
Germline

Chr11:5226714

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

rs_33969400

1 SubmittersRCV001078251

NM_000518.5(HBB):c.108C>G (p.Tyr36Ter)

SNV
Germline

Chr11:5226784

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

rs_33982568

1 SubmittersRCV001078305

NM_000518.5(HBB):c.107A>G (p.Tyr36Cys)

SNV
Germline

Chr11:5226785

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

rs_35857380

1 SubmittersRCV001078303

NM_000518.5(HBB):c.93G>C (p.Arg31Ser)

SNV
Germline

Chr11:5226799

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

rs_1135071

1 SubmittersRCV001078384

NM_000518.5(HBB):c.91A>G (p.Arg31Gly)

SNV
Germline

Chr11:5226931

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

rs_35684407

1 SubmittersRCV001078278

NM_000518.5(HBB):c.67G>T (p.Glu23Ter)

SNV
Germline

Chr11:5226955

Pathogenic

beta Thalassemia
Condition: not provided

Criteria Provided
Single Submitter

rs_33959855

2 SubmittersRCV001078431 RCV001862655

NM_000518.5(HBB):c.22G>T (p.Glu8Ter)

SNV
Germline

Chr11:5227000

Pathogenic

beta Thalassemia
Condition: not provided

Criteria Provided
Single Submitter

rs_34948328

2 SubmittersRCV001078316 RCV003478695

NM_000518.5(HBB):c.19G>T (p.Glu7Ter)

SNV
Germline

Chr11:5227003

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

rs_33930165

1 SubmittersRCV001078259

NM_000518.5(HBB):c.3G>T (p.Met1Ile)

SNV
Germline

Chr11:5227019

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

rs_33930702

1 SubmittersRCV001078378

NM_000518.5(HBB):c.3G>C (p.Met1Ile)

SNV
Germline

Chr11:5227019

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

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

rs_34563000

3 SubmittersRCV001078260 RCV001811644

NC_000011.10:g.5227096C>A

SNV
Germline

Chr11:5227096

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

rs_63750400

1 SubmittersRCV001078295

NC_000011.10:g.5227097T>G

SNV
Germline

Chr11:5227097

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

rs_281864525

1 SubmittersRCV001078338

NC_000011.10:g.5227098T>A

SNV
Germline

Chr11:5227098

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

rs_1847591425

1 SubmittersRCV001078339

NM_000518.4(HBB):c.-79A>C

SNV
Germline

Chr11:5227100

Pathogenic

beta Thalassemia
Condition: not provided

Criteria Provided
Single Submitter

rs_34598529

2 SubmittersRCV001078340 RCV003478696

NC_000011.10:g.5227101A>C

SNV
Germline

Chr11:5227101

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

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

rs_33980857

4 SubmittersRCV000016726 RCV001078342 RCV001284493

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

rs_1272414751

4 SubmittersRCV001078393 RCV001824922 RCV003478697

NC_000011.10:g.5227147G>T

SNV
Germline

Chr11:5227147

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

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

rs_35099082

3 SubmittersRCV001078427 RCV003327489

NM_000518.5(HBB):c.315+2T>C

SNV
Germline

Chr11:5226575

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

rs_63750283

1 SubmittersRCV001078425

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

SNV
Germline

Chr11:5226929

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

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

rs_33958088

3 SubmittersRCV001107681 RCV001107680 RCV001107682 RCV001107683 RCV001174809 RCV002069760

NM_000518.5(HBB):c.60C>T (p.Asn20=)

SNV
Germline

Chr11:5226962

Conflicting classifications of pathogenicity

Condition: not provided
beta Thalassemia

Criteria Provided
Conflicting Classifications

rs_63750840

3 SubmittersRCV001400263 RCV001836395

NM_000518.4(HBB):c.-136C>A

SNV
Germline

Chr11:5227157

Likely pathogenic

beta Thalassemia

Criteria Provided
Single Submitter

1 SubmittersRCV003236443