Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000518.5(HBB):c.431A>G (p.His144Arg)	SNV Germline	Chr11:5225611	Pathogenic/Likely pathogenic	HEMOGLOBIN ABRUZZO Condition: not provided beta Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA124714	rs_33918338	4 SubmittersRCV000016243 RCV001284490 RCV006644330
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)	SNV Germline	Chr11:5227003	Pathogenic/Likely pathogenic	Malaria, resistance to HEMOGLOBIN C Hb SS disease Condition: not provided beta Thalassemia Heinz body anemia 9 conditions Beta-thalassemia HBB/LCRB Inborn genetic diseases Hereditary persistence of fetal hemoglobin Sickle cell-hemoglobin C disease HBB-related disorder Inherited hemoglobinopathy 8 conditions Heinz body anemia Hb SS disease Beta-thalassemia HBB/LCRB alpha Thalassemia Dominant beta-thalassemia HBB-related hemoglobinopathies	Criteria Provided Multiple Submitters No Conflicts	CA124780	rs_33930165	35 SubmittersRCV000016285 RCV000016284 RCV000202507 RCV000224028 RCV000576347 RCV001813746 RCV001535943 RCV002288494 RCV002415418 RCV003137529 RCV003150807 RCV003335041 RCV004017254 RCV005049343 RCV005357128 RCV006636187
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 Fetal hemoglobin quantitative trait locus 1 not specified Hb SS disease Hemoglobin E 9 conditions Hemoglobinopathy 8 conditions Hb SS disease alpha Thalassemia Heinz body anemia Dominant beta-thalassemia Beta-thalassemia HBB/LCRB Beta-thalassemia HBB/LCRB	Criteria Provided Conflicting Classifications	CA124797	rs_33947415	19 SubmittersRCV000016301 RCV000396079 RCV000587680 RCV000709890 RCV001107023 RCV000855646 RCV001004567 RCV001107022 RCV001535933 RCV005417430 RCV005049344 RCV005364880 RCV006688354
NM_000518.4(HBB):c.388G>C (p.Ala130Pro)	SNV Germline	Chr11:5225654	Conflicting classifications of pathogenicity	HEMOGLOBIN CRETE beta Thalassemia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA124812	rs_35939430	4 SubmittersRCV000016309 RCV001823097 RCV004998083 RCV005437962
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 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	22 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 beta Thalassemia not specified Condition: not provided Hemoglobin E disease Anemia 9 conditions Inborn genetic diseases Beta-thalassemia HBB/LCRB Malaria, susceptibility to 8 conditions Heinz body anemia Hb SS disease Beta-thalassemia HBB/LCRB alpha Thalassemia Dominant beta-thalassemia HBB-related disorder 7 conditions Hereditary persistence of fetal hemoglobin Hemoglobin E/beta- thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA124838	rs_33950507	40 SubmittersRCV000016329 RCV000016330 RCV000016331 RCV000016332 RCV000202534 RCV000496072 RCV000506024 RCV000521111 RCV000778330 RCV000853358 RCV001536065 RCV002415419 RCV002288495 RCV003989105 RCV004795418 RCV005357129 RCV004532365 RCV005222686 RCV005229800 RCV005252683
NM_000518.4(HBB):c.68A>C (p.Glu23Ala)	SNV Germline	Chr11:5226954	Conflicting classifications of pathogenicity	HEMOGLOBIN G (TAEGU) HEMOGLOBIN G (SASKATOON) HEMOGLOBIN G (COUSHATTA) HEMOGLOBIN G (HSIN-CHU) beta Thalassemia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA124853	rs_33936254	7 SubmittersRCV000016346 RCV000016344 RCV000016343 RCV000016345 RCV000030001 RCV000224041 RCV003226160
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 8 conditions not specified	Criteria Provided Conflicting Classifications	CA124912	rs_33925391	8 SubmittersRCV000016384 RCV000759797 RCV001507092 RCV005049347 RCV006688355
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_000518.5(HBB):c.140G>A (p.Gly47Glu)	SNV Germline	Chr11:5226752	Conflicting classifications of pathogenicity	HEMOGLOBIN K (IBADAN) Condition: not provided beta Thalassemia not specified	Criteria Provided Conflicting Classifications	CA124971	rs_35303218	4 SubmittersRCV000016430 RCV001811156 RCV005614373 RCV006688357
NM_000518.4(HBB):c.92G>C (p.Arg31Thr)	SNV Germline	Chr11:5226930	Pathogenic	beta Thalassemia Condition: not provided Hb SS disease Beta-thalassemia major Beta-thalassemia HBB/LCRB HBB-related disorder 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA213890	rs_33960103	21 SubmittersRCV000016432 RCV000506942 RCV001004351 RCV001794452 RCV003338382 RCV004732545 RCV005049349
NM_000518.5(HBB):c.82G>T (p.Ala28Ser)	SNV Germline	Chr11:5226940	Pathogenic	HEMOGLOBIN KNOSSOS BETA-PLUS-THALASSEMIA Beta-Knossos-thalassemia beta Thalassemia Condition: not provided Hemoglobinopathy Hb SS disease Malaria, susceptibility to 8 conditions Beta-thalassemia HBB/LCRB	Reviewed By Expert Panel	CA124983	rs_35424040	16 SubmittersRCV000016439 RCV000016440 RCV000016441 RCV000169609 RCV000757368 RCV000780311 RCV001004353 RCV003992156 RCV005049350 RCV005623063
NM_000518.5(HBB):c.295G>A (p.Val99Met)	SNV Germline	Chr11:5226597	Pathogenic	Hemoglobinopathy Heinz body anemia beta Thalassemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA124987	rs_33933298	6 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.389C>T (p.Ala130Val)	SNV Germline	Chr11:5225653	Conflicting classifications of pathogenicity	HEMOGLOBIN LA DESIRADE Hb SS disease Condition: not provided Hemoglobinopathy 8 conditions beta Thalassemia	Criteria Provided Conflicting Classifications	CA124993	rs_111645889	9 SubmittersRCV000016450 RCV001004559 RCV001284158 RCV001804165 RCV005049351 RCV006644332
NM_000518.5(HBB):c.127T>C (p.Phe43Leu)	SNV Germline	Chr11:5226765	Likely pathogenic	Hemolytic anemia beta Thalassemia	Criteria Provided Single Submitter	CA125001	rs_33924146	2 SubmittersRCV000016458 RCV006644333
NM_000518.5(HBB):c.190C>T (p.His64Tyr)	SNV Germline	Chr11:5226702	Pathogenic/Likely pathogenic	HEMOGLOBIN M (SASKATOON) HEMOGLOBIN M (RADOM) METHEMOGLOBINEMIA, BETA TYPE beta Thalassemia Inborn genetic diseases Condition: not provided METHEMOGLOBINEMIA, BETA TYPE	Criteria Provided Multiple Submitters No Conflicts	CA125011	rs_33922873	9 SubmittersRCV000016466 RCV000641524 RCV000988480 RCV001266995 RCV004998088 RCV005429213
NM_000518.5(HBB):c.59A>G (p.Asn20Ser)	SNV Germline	Chr11:5226963	Pathogenic	HEMOGLOBIN MALAY BETA-PLUS-THALASSEMIA Beta-Malay-thalassemia beta Thalassemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA125015	rs_33972047	7 SubmittersRCV000016479 RCV000016480 RCV000016481 RCV000020338 RCV000508637
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 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	12 SubmittersRCV000016524 RCV000016525 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	5 SubmittersRCV000016563 RCV000781459 RCV001811163 RCV001831571
NM_000518.4(HBB):c.304G>C (p.Glu102Gln)	SNV Germline	Chr11:5226588	Likely pathogenic	HEMOGLOBIN RUSH beta Thalassemia	Criteria Provided Single Submitter	CA125136	rs_33966487	2 SubmittersRCV000016572 RCV006644334
NM_000518.5(HBB):c.328G>A (p.Val110Met)	SNV Germline	Chr11:5225714	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 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.4G>A (p.Val2Met)	SNV Germline	Chr11:5227018	Conflicting classifications of pathogenicity	HEMOGLOBIN SOUTH FLORIDA not specified beta Thalassemia Condition: not provided	Criteria Provided Conflicting Classifications	CA125180	rs_33958358	6 SubmittersRCV000016609 RCV000508674 RCV001831572 RCV005229803
NM_000518.4(HBB):c.191A>G (p.His64Arg)	SNV Germline	Chr11:5226701	Likely pathogenic	HEMOGLOBIN ZURICH Condition: not provided Hemoglobinopathy beta Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA125255	rs_33985544	5 SubmittersRCV000016654 RCV001284634 RCV003987323 RCV006644335
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 HBB-related disorder	Reviewed By Expert Panel	CA125257	rs_33986703	21 SubmittersRCV000016655 RCV000020337 RCV000507505 RCV000763255 RCV001004355 RCV002288498 RCV005049356 RCV005400415 RCV006704479
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 HBB-related disorder Malaria, susceptibility to 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA125259	rs_11549407	44 SubmittersRCV000016656 RCV000254827 RCV000379715 RCV001004570 RCV001197268 RCV002221479 RCV002288499 RCV002336086 RCV004532366 RCV003987324 RCV005003361
NM_000518.5(HBB):c.47G>A (p.Trp16Ter)	SNV Germline	Chr11:5226975	Pathogenic	Beta zero thalassemia Condition: not provided beta Thalassemia Hb SS disease Beta-thalassemia HBB/LCRB 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA125261	rs_63750783	17 SubmittersRCV000016657 RCV000508601 RCV000576738 RCV001004356 RCV003985073 RCV005049357
NM_000518.5(HBB):c.364G>T (p.Glu122Ter)	SNV Germline	Chr11:5225678	Pathogenic	Dominant beta-thalassemia Condition: not provided beta Thalassemia Hb SS disease Beta-thalassemia HBB/LCRB	Criteria Provided Multiple Submitters No Conflicts	CA125263	rs_33946267	8 SubmittersRCV000016658 RCV000507274 RCV000984185 RCV001004560 RCV005430462
NM_000518.5(HBB):c.114G>A (p.Trp38Ter)	SNV Germline	Chr11:5226778	Pathogenic	Beta zero thalassemia beta Thalassemia Condition: not provided Hemoglobinopathy Beta-thalassemia HBB/LCRB	Reviewed By Expert Panel	CA125265	rs_33974936	13 SubmittersRCV000016659 RCV000169502 RCV000506223 RCV000781456 RCV006694354
NM_000518.5(HBB):c.130G>T (p.Glu44Ter)	SNV Germline	Chr11:5226762	Pathogenic	Beta zero thalassemia Condition: not provided beta Thalassemia Hemoglobinopathy Hb SS disease Beta-thalassemia HBB/LCRB 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA125267	rs_33922842	12 SubmittersRCV000016660 RCV000506797 RCV000665678 RCV000780310 RCV001004568 RCV004795419 RCV005049358
NM_000518.5(HBB):c.184A>T (p.Lys62Ter)	SNV Germline	Chr11:5226708	Pathogenic	Beta zero thalassemia Condition: not provided beta Thalassemia 9 conditions	Criteria Provided Multiple Submitters No Conflicts	CA125269	rs_33995148	7 SubmittersRCV000016661 RCV000506527 RCV001078254 RCV002504795
NM_000518.5(HBB):c.108C>A (p.Tyr36Ter)	SNV Germline	Chr11:5226784	Pathogenic	Beta zero thalassemia beta Thalassemia Condition: not provided 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA125271	rs_33982568	6 SubmittersRCV000016662 RCV001078304 RCV001800305 RCV005049359
NM_000518.5(HBB):c.2T>G (p.Met1Arg)	SNV Germline	Chr11:5227020	Pathogenic	Beta zero thalassemia Condition: not provided beta Thalassemia Hb SS disease 8 conditions Beta-thalassemia HBB/LCRB	Criteria Provided Multiple Submitters No Conflicts	CA125299	rs_33941849	10 SubmittersRCV000016691 RCV000505904 RCV000664667 RCV001004361 RCV005049363 RCV005430107
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 Inborn genetic diseases 8 conditions Dominant beta-thalassemia Erythrocytosis, familial, 6	Criteria Provided Multiple Submitters No Conflicts	CA125303	rs_33971440	36 SubmittersRCV000016694 RCV000020340 RCV000390929 RCV001004350 RCV001329338 RCV002288501 RCV004819209 RCV004975260 RCV005003368 RCV005051735 RCV005357131
NM_000518.5(HBB):c.92+1G>T	SNV Germline	Chr11:5226929	Pathogenic	Beta zero thalassemia beta Thalassemia Condition: not provided Hb SS disease Inborn genetic diseases HBB-related disorder Beta-thalassemia HBB/LCRB 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA125304	rs_33971440	19 SubmittersRCV000016695 RCV000169505 RCV000507580 RCV001004349 RCV002444432 RCV004532369 RCV004689419 RCV005003369
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 Beta-thalassemia HBB/LCRB Malaria, susceptibility to 8 conditions Erythrocytosis, familial, 6 HBB-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA125305	rs_33945777	32 SubmittersRCV000016696 RCV000020332 RCV000255349 RCV001004566 RCV001731303 RCV001723572 RCV002288502 RCV003987325 RCV005003370 RCV005357132 RCV006636188
NM_000518.5(HBB):c.93-1G>A	SNV Germline	Chr11:5226800	Pathogenic	Beta zero thalassemia Condition: not provided beta Thalassemia 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA125309	rs_33943001	7 SubmittersRCV000016704 RCV000508208 RCV000587419 RCV005049364
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 HBB/LCRB Beta-thalassemia major Inborn genetic diseases Hereditary persistence of fetal hemoglobin Malaria, susceptibility to HBB-related disorder Dominant beta-thalassemia Hemoglobin E/beta- thalassemia 8 conditions	Reviewed By Expert Panel	CA125310	rs_33915217	39 SubmittersRCV000016705 RCV000020341 RCV000255746 RCV000763253 RCV001004348 RCV002288503 RCV001794453 RCV002444433 RCV003445071 RCV003987326 RCV004732547 RCV004814907 RCV005252684 RCV005049365
NM_000518.5(HBB):c.92+5G>T	SNV Germline	Chr11:5226925	Pathogenic	BETA-PLUS-THALASSEMIA Condition: not provided beta Thalassemia Beta-thalassemia HBB/LCRB 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA125311	rs_33915217	10 SubmittersRCV000016706 RCV000505898 RCV000984182 RCV005430463 RCV005049366
NM_000518.5(HBB):c.92+5G>A	SNV Germline	Chr11:5226925	Pathogenic	BETA-PLUS-THALASSEMIA beta Thalassemia Condition: not provided Beta-thalassemia HBB/LCRB 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA125312	rs_33915217	10 SubmittersRCV000016707 RCV000030004 RCV001216321 RCV005867761 RCV005049367
NM_000518.5(HBB):c.92+6T>C	SNV Germline	Chr11:5226924	Pathogenic/Likely pathogenic	BETA-PLUS-THALASSEMIA Condition: not provided beta Thalassemia 9 conditions Hb SS disease Heinz body anemia Inborn genetic diseases Beta-thalassemia HBB/LCRB Malaria, susceptibility to HBB-related disorder Erythrocytosis, familial, 6 8 conditions Beta thalassemia intermedia	Criteria Provided Multiple Submitters No Conflicts	CA125313	rs_35724775	29 SubmittersRCV000016708 RCV000417932 RCV000415353 RCV000763252 RCV001004347 RCV002247349 RCV002371774 RCV004566748 RCV003988822 RCV004532370 RCV005357133 RCV005049368 RCV005406746
NM_000518.5(HBB):c.316-3C>A	SNV Germline	Chr11:5225729	Pathogenic/Likely pathogenic	BETA-PLUS-THALASSEMIA Beta thalassemia intermedia Condition: not provided beta Thalassemia 9 conditions HBB-related disorder Beta-thalassemia HBB/LCRB Acute myeloid leukemia	Criteria Provided Multiple Submitters No Conflicts	CA125314	rs_33913413	15 SubmittersRCV000016709 RCV000029987 RCV000506607 RCV000984183 RCV002496382 RCV004528115 RCV005430464 RCV005887530
NM_000518.5(HBB):c.93-21G>A	SNV Germline	Chr11:5226820	Pathogenic	BETA-PLUS-THALASSEMIA beta Thalassemia Beta-thalassemia major 9 conditions Condition: not provided Hb SS disease Fetal hemoglobin quantitative trait locus 1 Beta-thalassemia HBB/LCRB Inborn genetic diseases Malaria, susceptibility to 8 conditions Erythrocytosis, familial, 6 Dominant beta-thalassemia	Reviewed By Expert Panel	CA125315	rs_35004220	40 SubmittersRCV000016712 RCV000020343 RCV000030008 RCV000763251 RCV000799079 RCV001004346 RCV001262998 RCV002288504 RCV002371775 RCV003989289 RCV005049369 RCV005357134 RCV006696276
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 HBB-related disorder Erythrocytosis, familial, 6 8 conditions	Reviewed By Expert Panel	CA125316	rs_34690599	25 SubmittersRCV000016715 RCV000029978 RCV000506445 RCV001004564 RCV002272021 RCV002288505 RCV004732548 RCV005357135 RCV005003371
NM_000518.5(HBB):c.316-197C>T	SNV Germline	Chr11:5225923	Pathogenic	Beta zero thalassemia beta Thalassemia Beta-thalassemia major Condition: not provided Hb SS disease HBB-related disorder 8 conditions Beta-thalassemia HBB/LCRB	Reviewed By Expert Panel	CA125317	rs_34451549	15 SubmittersRCV000016716 RCV000020334 RCV000029984 RCV000794203 RCV001004565 RCV004532371 RCV005049370 RCV006694355
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	12 SubmittersRCV000016717 RCV000030002 RCV000508672 RCV001004354 RCV002496383
NC_000011.10:g.5227159G>A	SNV Germline	Chr11:5227159	Pathogenic/Likely pathogenic	BETA-PLUS-THALASSEMIA beta Thalassemia Condition: not provided Hemoglobinopathy Inborn genetic diseases 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA125320	rs_33944208	12 SubmittersRCV000016718 RCV000020324 RCV000507151 RCV000781453 RCV002390113 RCV005049371
NC_000011.10:g.5227172G>A	SNV Germline	Chr11:5227172	Pathogenic	BETA-PLUS-THALASSEMIA beta Thalassemia Condition: not provided HBB-related disorder Malaria, susceptibility to Beta-thalassemia HBB/LCRB 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA125321	rs_63751208	17 SubmittersRCV000016719 RCV000169081 RCV000820736 RCV004532372 RCV003989290 RCV004566749 RCV005003372
NM_000518.5(HBB):c.-142C>T	SNV Germline	Chr11:5227163	Pathogenic/Likely pathogenic	BETA-PLUS-THALASSEMIA beta Thalassemia Beta thalassemia intermedia Condition: not provided 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA125322	rs_34883338	6 SubmittersRCV000016720 RCV000445639 RCV000589915 RCV003476899 RCV005049372
NM_000518.5(HBB):c.-137C>G	SNV Germline	Chr11:5227158	Pathogenic	BETA-PLUS-THALASSEMIA Beta thalassemia intermedia beta Thalassemia Condition: not provided 9 conditions Beta-thalassemia HBB/LCRB	Reviewed By Expert Panel	CA125323	rs_33941377	12 SubmittersRCV000016722 RCV000029951 RCV000445653 RCV000507653 RCV002496385 RCV006694356
NM_000518.5(HBB):c.-136C>G	SNV Germline	Chr11:5227157	Pathogenic/Likely pathogenic	BETA-PLUS-THALASSEMIA beta Thalassemia Condition: not provided Beta-thalassemia HBB/LCRB	Criteria Provided Multiple Submitters No Conflicts	CA125324	rs_33994806	11 SubmittersRCV000016723 RCV000029948 RCV000505925 RCV004689420
NM_000518.5(HBB):c.-81A>G	SNV Germline	Chr11:5227102	Pathogenic	BETA-PLUS-THALASSEMIA beta Thalassemia Condition: not provided Beta thalassemia intermedia 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA125325	rs_33981098	10 SubmittersRCV000016724 RCV000445643 RCV000506722 RCV001255596 RCV005049373
NM_000518.5(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	9 SubmittersRCV000016725 RCV000029962 RCV000508486 RCV001000147
NC_000011.10:g.5227100T>C	SNV Germline	Chr11:5227100	Pathogenic	BETA-PLUS-THALASSEMIA beta Thalassemia Condition: not provided Heinz body anemia Inborn genetic diseases 8 conditions Beta-thalassemia HBB/LCRB	Criteria Provided Multiple Submitters No Conflicts	CA125327	rs_34598529	17 SubmittersRCV000016727 RCV000020326 RCV000810653 RCV002247350 RCV002415420 RCV005003373 RCV005867762
NM_000518.5(HBB):c.-78A>C	SNV Germline	Chr11:5227099	Pathogenic	BETA-PLUS-THALASSEMIA Condition: not provided beta Thalassemia Hb SS disease 8 conditions Beta-thalassemia HBB/LCRB	Reviewed By Expert Panel	CA125328	rs_33931746	12 SubmittersRCV000016728 RCV000508592 RCV000589656 RCV001004363 RCV005003374 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	16 SubmittersRCV000016729 RCV000029960 RCV000506257 RCV001004362 RCV004795422 RCV005049374
NM_000518.5(HBB):c.*113A>G	SNV Germline	Chr11:5225485	Pathogenic	BETA-PLUS-THALASSEMIA beta Thalassemia Condition: not provided Beta-thalassemia HBB/LCRB	Criteria Provided Multiple Submitters No Conflicts	CA125330	rs_33985472	6 SubmittersRCV000016731 RCV000445642 RCV002513070 RCV005430109
NM_000518.5(HBB):c.*112A>G	SNV Germline	Chr11:5225486	Pathogenic/Likely pathogenic	BETA-PLUS-THALASSEMIA beta Thalassemia Beta-thalassemia HBB/LCRB Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA125331	rs_63750954	4 SubmittersRCV000016734 RCV005055516 RCV005867763 RCV006461169
NM_000518.5(HBB):c.343C>A (p.Leu115Met)	SNV Germline	Chr11:5225699	Likely pathogenic	HEMOGLOBIN ZENGCHENG beta Thalassemia	Criteria Provided Single Submitter	CA125343	rs_33917394	2 SubmittersRCV000016745 RCV006644336
NM_000518.5(HBB):c.*111A>G	SNV Germline	Chr11:5225487	Pathogenic	BETA-PLUS-THALASSEMIA beta Thalassemia Condition: not provided Hemoglobinopathy Beta-thalassemia HBB/LCRB	Reviewed By Expert Panel	CA125347	rs_63751128	10 SubmittersRCV000016748 RCV000445654 RCV000506983 RCV001193152 RCV004566750
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	CA217112854	rs_33952266	3 SubmittersRCV000016774 RCV001078268 RCV001800306
NM_000518.5(HBB):c.344T>C (p.Leu115Pro)	SNV Germline	Chr11:5225698	Pathogenic/Likely pathogenic	Beta thalassemia intermedia HEMOGLOBIN DURHAM-N.C. HEMOGLOBIN BRESCIA Condition: not provided Dominant beta-thalassemia beta Thalassemia 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA125376	rs_36015961	8 SubmittersRCV000016775 RCV000016777 RCV000016776 RCV000759070 RCV001731305 RCV001826469 RCV005049375
NM_000518.5(HBB):c.-140C>T	SNV Germline	Chr11:5227161	Pathogenic/Likely pathogenic	BETA-PLUS-THALASSEMIA beta Thalassemia Beta thalassemia intermedia Condition: not provided HBB-related disorder Beta-thalassemia HBB/LCRB 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA125377	rs_34999973	15 SubmittersRCV000016778 RCV000029954 RCV000202364 RCV001069376 RCV002260510 RCV002288506 RCV005049376
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	7 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	CA217114698	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	6 SubmittersRCV000016855 RCV000588829 RCV000855596 RCV001835629
NM_000517.4(HBA2):c.427T>A (p.Ter143Lys)	SNV Germline	Chr16:173598	Pathogenic	HEMOGLOBIN ICARIA Hemoglobin H disease, nondeletional Condition: not provided alpha Thalassemia beta Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA125550	rs_41464951	8 SubmittersRCV000016893 RCV000022603 RCV000985726 RCV002250461 RCV004017255
NM_000517.6(HBA2):c.*92A>G	SNV Germline	Chr16:173692	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 HBA2-related alpha thalassemia spectrum	Reviewed By Expert Panel	CA125586	rs_63750067	11 SubmittersRCV000016933 RCV000022604 RCV000507591 RCV001831575 RCV002476983 RCV003989291 RCV004017256 RCV006694358
NM_000518.5(HBB):c.316-2A>C	SNV Germline	Chr11:5225728	Pathogenic	Beta zero thalassemia beta Thalassemia Condition: not provided Beta-thalassemia major	Criteria Provided Multiple Submitters No Conflicts	CA341710	rs_33914668	8 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 Thymoma	Criteria Provided Multiple Submitters No Conflicts	CA341711	rs_33914668	14 SubmittersRCV000016701 RCV000020336 RCV000508360 RCV001004562 RCV002504815 RCV003389313 RCV005887591
NC_000011.10:g.5227154C>T	SNV Germline	Chr11:5227154	Conflicting classifications of pathogenicity	beta Thalassemia Condition: not provided	Criteria Provided Conflicting Classifications	CA342841	rs_72561473	5 SubmittersRCV000029947 RCV000861030
NM_000518.4(HBB):c.-136C>T	SNV Germline	Chr11:5227157	Pathogenic/Likely pathogenic	beta Thalassemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342842	rs_33994806	2 SubmittersRCV000029949 RCV004998111
NM_000518.5(HBB):c.-137C>A	SNV Germline	Chr11:5227158	Pathogenic/Likely pathogenic	beta Thalassemia Condition: not provided 9 conditions Beta thalassemia intermedia 8 conditions Beta-thalassemia HBB/LCRB	Criteria Provided Multiple Submitters No Conflicts	CA213883	rs_33941377	10 SubmittersRCV000445644 RCV000506877 RCV000763257 RCV001797592 RCV005003404 RCV005430466
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	8 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 Fetal hemoglobin quantitative trait locus 1 Hb SS disease Hemoglobin E not specified Dominant beta-thalassemia HBB-related disorder 8 conditions	Criteria Provided Conflicting Classifications	CA342844	rs_63750628	9 SubmittersRCV000029956 RCV000755548 RCV001104362 RCV001104361 RCV001104363 RCV001420720 RCV002272029 RCV004732554 RCV005049387
NM_000518.5(HBB):c.-50A>C	SNV Germline	Chr11:5227071	Pathogenic/Likely pathogenic	beta Thalassemia Condition: not provided BETA-PLUS-THALASSEMIA 8 conditions Beta-thalassemia HBB/LCRB	Criteria Provided Multiple Submitters No Conflicts	CA342845	rs_34305195	9 SubmittersRCV000029957 RCV000508619 RCV001838527 RCV005049388 RCV005430467
NC_000011.10:g.5227113G>C	SNV Germline	Chr11:5227113	Conflicting classifications of pathogenicity	beta Thalassemia Condition: not provided	Criteria Provided Conflicting Classifications	CA342848	rs_397515291	5 SubmittersRCV000029963 RCV000759806
NM_000518.5(HBB):c.2T>C (p.Met1Thr)	SNV Germline	Chr11:5227020	Pathogenic	Beta zero thalassemia BETA-THALASSEMIA, LERMONTOV TYPE beta Thalassemia Condition: not provided Beta-thalassemia HBB/LCRB 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA125301	rs_33941849	10 SubmittersRCV000016692 RCV000016693 RCV000029976 RCV000508042 RCV002465492 RCV005049390
NM_000518.5(HBB):c.316-146T>G	SNV Germline	Chr11:5225872	Pathogenic	BETA-PLUS-THALASSEMIA beta Thalassemia Condition: not provided Beta-thalassemia HBB/LCRB	Reviewed By Expert Panel	CA213888	rs_35328027	7 SubmittersRCV000016714 RCV000029979 RCV000985748 RCV006694362
NM_000518.5(HBB):c.316-14T>G	SNV Germline	Chr11:5225740	Pathogenic/Likely pathogenic	beta Thalassemia Condition: not provided 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA342858	rs_35703285	10 SubmittersRCV000029980 RCV000759066 RCV005049391
NM_000518.5(HBB):c.324C>T (p.Gly108=)	SNV Germline	Chr11:5225718	Conflicting classifications of pathogenicity	not specified Condition: not provided Fetal hemoglobin quantitative trait locus 1 beta Thalassemia Hemoglobin E Hb SS disease Inborn genetic diseases 8 conditions	Criteria Provided Conflicting Classifications	CA342866	rs_193922562	8 SubmittersRCV000507146 RCV000759069 RCV001103966 RCV001103967 RCV001103968 RCV001103969 RCV005572269 RCV005049393
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.*96T>C	SNV Germline	Chr11:5225502	Conflicting classifications of pathogenicity	beta Thalassemia Condition: not provided HBB-related disorder	Criteria Provided Conflicting Classifications	CA342875	rs_34029390	9 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 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA213889	rs_33978907	15 SubmittersRCV000016730 RCV000445649 RCV000506540 RCV001004557 RCV004566754 RCV005049394
NM_000518.5(HBB):c.92+2T>C	SNV Germline	Chr11:5226928	Pathogenic	beta Thalassemia Condition: not provided 9 conditions Beta zero thalassemia Nonpapillary renal cell carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA342876	rs_33956879	10 SubmittersRCV000030003 RCV000506748 RCV002496456 RCV003991531 RCV005888729
NM_000518.5(HBB):c.92G>A (p.Arg31Lys)	SNV Germline	Chr11:5226930	Likely pathogenic	beta Thalassemia Condition: not provided 8 conditions Beta-thalassemia HBB/LCRB	Criteria Provided Multiple Submitters No Conflicts	CA342877	rs_33960103	8 SubmittersRCV000030006 RCV000506003 RCV005049395 RCV005430110
NM_000518.5(HBB):c.93-23T>C	SNV Germline	Chr11:5226822	Conflicting classifications of pathogenicity	Condition: not provided HBB-related disorder Beta-thalassemia HBB/LCRB beta Thalassemia	Criteria Provided Conflicting Classifications	CA342879	rs_111851677	9 SubmittersRCV000860961 RCV004532420 RCV003323278 RCV000030010
NM_000518.5(HBB):c.93-3T>G	SNV Germline	Chr11:5226802	Pathogenic/Likely pathogenic	BETA-PLUS-THALASSEMIA beta Thalassemia Beta thalassemia intermedia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342880	rs_34527846	8 SubmittersRCV000016710 RCV000030011 RCV002222330 RCV002477023
NM_000518.5(HBB):c.48G>A (p.Trp16Ter)	SNV Germline	Chr11:5226974	Pathogenic	Condition: not provided beta Thalassemia 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA217115390	rs_34716011	12 SubmittersRCV000508624 RCV000589075 RCV005049397
NM_000518.5(HBB):c.79G>T (p.Glu27Ter)	SNV Germline	Chr11:5226943	Pathogenic	Condition: not provided beta Thalassemia Hemoglobinopathy Beta-thalassemia HBB/LCRB	Criteria Provided Multiple Submitters No Conflicts	CA217115188	rs_33950507	7 SubmittersRCV000507549 RCV000674991 RCV000781460 RCV005430471
NM_000518.5(HBB):c.92+2T>A	SNV Germline	Chr11:5226928	Pathogenic	Beta zero thalassemia Condition: not provided beta Thalassemia Beta-thalassemia HBB/LCRB	Criteria Provided Multiple Submitters No Conflicts	CA217115033	rs_33956879	8 SubmittersRCV000016739 RCV000506130 RCV000665219 RCV005430111
NM_000518.5(HBB):c.316-1G>T	SNV Germline	Chr11:5225727	Likely pathogenic	Condition: not provided beta Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA217112852	rs_33952266	3 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	beta Thalassemia Condition: not provided	Criteria Provided Single Submitter	CA346836	rs_33945777	3 SubmittersRCV000169544 RCV001850405
NM_000517.6(HBA2):c.*94A>G	SNV Germline	Chr16:173694	Pathogenic/Likely pathogenic	alpha Thalassemia Condition: not provided Hemoglobin H disease alpha Thalassemia Erythrocytosis, familial, 7 Heinz body anemia Hemoglobin H disease beta Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA16602272	rs_63751269	11 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	5 SubmittersRCV000445641 RCV002265766 RCV002522737
NM_000518.5(HBB):c.316-7C>G	SNV Germline	Chr11:5225733	Conflicting classifications of pathogenicity	beta Thalassemia not specified Condition: not provided Beta-thalassemia HBB/LCRB	Criteria Provided Conflicting Classifications	CA16609383	rs_34483965	5 SubmittersRCV000445651 RCV000781440 RCV001284152 RCV005430354
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	7 SubmittersRCV000445640 RCV000781439 RCV002522735
NM_000518.5(HBB):c.-138C>A	SNV Germline	Chr11:5227159	Pathogenic/Likely pathogenic	BETA-PLUS-THALASSEMIA beta Thalassemia Condition: not provided 9 conditions Hemoglobinopathy not specified Beta-thalassemia HBB/LCRB	Criteria Provided Multiple Submitters No Conflicts	CA16609387	rs_33944208	13 SubmittersRCV000016721 RCV000445645 RCV000505872 RCV000762846 RCV000781451 RCV003488595 RCV005430536
NM_000518.5(HBB):c.316-125A>G	SNV Germline	Chr11:5225851	Conflicting classifications of pathogenicity	Condition: not provided beta Thalassemia not specified HBB-related disorder	Criteria Provided Conflicting Classifications	CA217112977	rs_63751175	9 SubmittersRCV000508509 RCV001078266 RCV001281704 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 Fetal hemoglobin quantitative trait locus 1 beta Thalassemia Hb SS disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5839740	rs_769583496	6 SubmittersRCV000507587 RCV000756242 RCV001104256 RCV001104255 RCV001104257 RCV001104258 RCV004629226
NM_000518.5(HBB):c.93-1G>C	SNV Germline	Chr11:5226800	Pathogenic	Beta zero thalassemia Condition: not provided beta Thalassemia Beta-thalassemia major Beta-thalassemia HBB/LCRB	Criteria Provided Multiple Submitters No Conflicts	CA5839768	rs_33943001	10 SubmittersRCV000016769 RCV000506434 RCV001078336 RCV001375484 RCV004689769
NM_000518.5(HBB):c.93-2A>C	SNV Germline	Chr11:5226801	Pathogenic	Condition: not provided Hemoglobinopathy beta Thalassemia Beta-thalassemia HBB/LCRB	Criteria Provided Multiple Submitters No Conflicts	CA379274661	rs_63750513	5 SubmittersRCV000507399 RCV000780315 RCV001078337 RCV004696927
NM_000518.5(HBB):c.33C>A (p.Ala11=)	SNV Germline	Chr11:5226989	Conflicting classifications of pathogenicity	Condition: not provided beta Thalassemia Inborn genetic diseases HBB-related disorder	Criteria Provided Conflicting Classifications	CA5839818	rs_35799536	8 SubmittersRCV000757356 RCV001374655 RCV002455977 RCV004535634
NM_000518.5(HBB):c.1A>G (p.Met1Val)	SNV Germline	Chr11:5227021	Pathogenic	Condition: not provided Hemoglobinopathy beta Thalassemia 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA217115654	rs_34563000	6 SubmittersRCV000507448 RCV000780324 RCV001078261 RCV005049575
NM_000518.5(HBB):c.-82C>T	SNV Germline	Chr11:5227103	Conflicting classifications of pathogenicity	Condition: not provided beta Thalassemia not specified HBB-related disorder 8 conditions	Criteria Provided Conflicting Classifications	CA217115785	rs_34500389	7 SubmittersRCV000507303 RCV001078343 RCV000855594 RCV004732913 RCV005049577
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 Hemoglobinopathy	Criteria Provided Multiple Submitters No Conflicts	CA217114568	rs_33991059	5 SubmittersRCV000506586 RCV001078348 RCV003558431 RCV006690581
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	4 SubmittersRCV000588257 RCV000985744
NM_000518.5(HBB):c.-140C>G	SNV Germline	Chr11:5227161	Conflicting classifications of pathogenicity	not specified beta Thalassemia Condition: not provided 8 conditions	Criteria Provided Conflicting Classifications	CA658683682	rs_34999973	6 SubmittersRCV000589253 RCV001078396 RCV005000361 RCV005049610
NM_000518.5(HBB):c.316-1G>A	SNV Germline	Chr11:5225727	Pathogenic/Likely pathogenic	beta Thalassemia Beta zero thalassemia Condition: not provided Beta-thalassemia HBB/LCRB	Criteria Provided Multiple Submitters No Conflicts	CA217112873	rs_33952266	7 SubmittersRCV000668023 RCV000736022 RCV003558495 RCV005430580
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.93-15T>G	SNV Germline	Chr11:5226814	Pathogenic	Beta zero thalassemia beta Thalassemia Beta-thalassemia HBB/LCRB Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA217114761	rs_35456885	8 SubmittersRCV000016713 RCV000665080 RCV004568488 RCV005422928
NM_000518.5(HBB):c.91A>C (p.Arg31=)	SNV Germline	Chr11:5226931	Likely pathogenic	beta Thalassemia Condition: not provided Beta-thalassemia HBB/LCRB	Criteria Provided Multiple Submitters No Conflicts	CA217115069	rs_35684407	6 SubmittersRCV000721920 RCV001284494 RCV004689867
NM_000518.5(HBB):c.316-3C>G	SNV Germline	Chr11:5225729	Likely pathogenic	Beta zero thalassemia Condition: not provided beta Thalassemia	Criteria Provided Single Submitter	CA217112885	rs_33913413	3 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	CA217113399	rs_33945777	5 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 Nonpapillary renal cell carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA217115031	rs_33956879	7 SubmittersRCV000016697 RCV000759805 RCV001001413 RCV001078334 RCV005897320
NM_000518.5(HBB):c.316-179A>C	SNV Germline	Chr11:5225905	Conflicting classifications of pathogenicity	not specified Condition: not provided beta Thalassemia	Criteria Provided Conflicting Classifications	CA217113009	rs_185607297	4 SubmittersRCV000780328 RCV000937128 RCV003315253
NM_000518.5(HBB):c.190C>A (p.His64Asn)	SNV Germline	Chr11:5226702	Pathogenic/Likely pathogenic	HEMOGLOBIN HANA METHEMOGLOBINEMIA, BETA TYPE beta Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA217114143	rs_33922873	3 SubmittersRCV000855777 RCV005208152 RCV006644667
NM_000518.5(HBB):c.-121C>T	SNV Germline	Chr11:5227142	Pathogenic/Likely pathogenic	Condition: not provided beta Thalassemia Beta-thalassemia HBB/LCRB	Criteria Provided Multiple Submitters No Conflicts	CA217115815	rs_281864518	6 SubmittersRCV000985736 RCV001078347 RCV006685343
NM_000518.5(HBB):c.118C>A (p.Gln40Lys)	SNV Germline	Chr11:5226774	Conflicting classifications of pathogenicity	Condition: not provided HEMOGLOBIN ALABAMA beta Thalassemia	Criteria Provided Conflicting Classifications	CA217114557	rs_11549407	3 SubmittersRCV001811595 RCV002280786 RCV005614479
NM_000518.5(HBB):c.51C>T (p.Gly17=)	SNV Germline	Chr11:5226971	Pathogenic/Likely pathogenic	Condition: not provided beta Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA472885859	rs_370075492	3 SubmittersRCV001811615 RCV006644679
NM_000518.5(HBB):c.*108A>G	SNV Germline	Chr11:5225490	Pathogenic	beta Thalassemia	No Assertion Criteria Provided	CA916083171	rs_1847518799	1 SubmittersRCV001078298
NM_000518.5(HBB):c.*32A>C	SNV Germline	Chr11:5225566	Pathogenic	beta Thalassemia	No Assertion Criteria Provided	CA916083172	rs_1847520793	1 SubmittersRCV001078301
NM_000518.5(HBB):c.397A>T (p.Lys133Ter)	SNV Germline	Chr11:5225645	Pathogenic	beta Thalassemia	No Assertion Criteria Provided	CA217112395	rs_33953406	1 SubmittersRCV001078375
NM_000518.5(HBB):c.394C>T (p.Gln132Ter)	SNV Germline	Chr11:5225648	Likely pathogenic	beta Thalassemia	Criteria Provided Single Submitter	CA379273681	rs_33910209	2 SubmittersRCV001078372
NM_000518.5(HBB):c.339T>A (p.Cys113Ter)	SNV Germline	Chr11:5225703	Pathogenic	beta Thalassemia	No Assertion Criteria Provided	CA217112750	rs_33930977	1 SubmittersRCV001078327
NM_000518.5(HBB):c.199A>T (p.Lys67Ter)	SNV Germline	Chr11:5226693	Pathogenic	beta Thalassemia	No Assertion Criteria Provided	CA379273874	rs_34165323	1 SubmittersRCV001078258
NM_000518.5(HBB):c.178A>T (p.Lys60Ter)	SNV Germline	Chr11:5226714	Pathogenic	beta Thalassemia	No Assertion Criteria Provided	CA217114202	rs_33969400	1 SubmittersRCV001078251
NM_000518.5(HBB):c.108C>G (p.Tyr36Ter)	SNV Germline	Chr11:5226784	Pathogenic	beta Thalassemia	No Assertion Criteria Provided	CA379274598	rs_33982568	1 SubmittersRCV001078305
NM_000518.5(HBB):c.107A>G (p.Tyr36Cys)	SNV Germline	Chr11:5226785	Pathogenic	beta Thalassemia	No Assertion Criteria Provided	CA379274600	rs_35857380	1 SubmittersRCV001078303
NM_000518.5(HBB):c.93G>C (p.Arg31Ser)	SNV Germline	Chr11:5226799	Pathogenic	beta Thalassemia	No Assertion Criteria Provided	CA217114684	rs_1135071	1 SubmittersRCV001078384
NM_000518.5(HBB):c.91A>G (p.Arg31Gly)	SNV Germline	Chr11:5226931	Pathogenic/Likely pathogenic	beta Thalassemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA217115065	rs_35684407	3 SubmittersRCV001078278 RCV005232121
NM_000518.5(HBB):c.67G>T (p.Glu23Ter)	SNV Germline	Chr11:5226955	Pathogenic	beta Thalassemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA217115260	rs_33959855	3 SubmittersRCV001078431 RCV001862655
NM_000518.5(HBB):c.22G>T (p.Glu8Ter)	SNV Germline	Chr11:5227000	Pathogenic	beta Thalassemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA379274972	rs_34948328	3 SubmittersRCV001078316 RCV003478695
NM_000518.5(HBB):c.19G>T (p.Glu7Ter)	SNV Germline	Chr11:5227003	Pathogenic	beta Thalassemia	No Assertion Criteria Provided	CA379274985	rs_33930165	1 SubmittersRCV001078259
NM_000518.5(HBB):c.3G>T (p.Met1Ile)	SNV Germline	Chr11:5227019	Likely pathogenic	beta Thalassemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA217115639	rs_33930702	3 SubmittersRCV001078378 RCV004998643
NM_000518.5(HBB):c.3G>C (p.Met1Ile)	SNV Germline	Chr11:5227019	Pathogenic	beta Thalassemia	No Assertion Criteria Provided	CA217115643	rs_33930702	1 SubmittersRCV001078377
NM_000518.5(HBB):c.1A>C (p.Met1Leu)	SNV Germline	Chr11:5227021	Pathogenic/Likely pathogenic	beta Thalassemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA379275050	rs_34563000	3 SubmittersRCV001078260 RCV001811644
NC_000011.10:g.5227096C>A	SNV Germline	Chr11:5227096	Pathogenic	beta Thalassemia	No Assertion Criteria Provided	CA916083229	rs_63750400	1 SubmittersRCV001078295
NC_000011.10:g.5227097T>G	SNV Germline	Chr11:5227097	Pathogenic	beta Thalassemia	No Assertion Criteria Provided	CA217115748	rs_281864525	1 SubmittersRCV001078338
NC_000011.10:g.5227098T>A	SNV Germline	Chr11:5227098	Pathogenic	beta Thalassemia	No Assertion Criteria Provided	CA916083230	rs_1847591425	1 SubmittersRCV001078339
NM_000518.5(HBB):c.-79A>C	SNV Germline	Chr11:5227100	Pathogenic/Likely pathogenic	beta Thalassemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA916083231	rs_34598529	3 SubmittersRCV001078340 RCV003478696
NC_000011.10:g.5227101A>C	SNV Germline	Chr11:5227101	Pathogenic	beta Thalassemia	No Assertion Criteria Provided	CA217115768	rs_33980857	1 SubmittersRCV001078341
NM_000518.5(HBB):c.-80T>C	SNV Germline	Chr11:5227101	Pathogenic	BETA-PLUS-THALASSEMIA beta Thalassemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA217115773	rs_33980857	5 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	CA677538286	rs_1272414751	5 SubmittersRCV001078393 RCV001824922 RCV003478697
NC_000011.10:g.5227147G>T	SNV Germline	Chr11:5227147	Pathogenic	beta Thalassemia	No Assertion Criteria Provided	CA916083233	rs_1847592435	1 SubmittersRCV001078394
NM_000518.5(HBB):c.315+5G>C	SNV Germline	Chr11:5226572	Pathogenic	beta Thalassemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA217113381	rs_35099082	4 SubmittersRCV001078427 RCV003327489
NM_000518.5(HBB):c.315+2T>C	SNV Germline	Chr11:5226575	Pathogenic	beta Thalassemia	Criteria Provided Single Submitter	CA217113386	rs_63750283	2 SubmittersRCV001078425
NM_000518.5(HBB):c.92+1G>C	SNV Germline	Chr11:5226929	Pathogenic	beta Thalassemia	No Assertion Criteria Provided	CA379274739	rs_33971440	1 SubmittersRCV001078281
NM_000518.5(HBB):c.85C>T (p.Leu29=)	SNV Germline	Chr11:5226937	Conflicting classifications of pathogenicity	beta Thalassemia Hb SS disease Fetal hemoglobin quantitative trait locus 1 Hemoglobin E not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA217115132	rs_33958088	3 SubmittersRCV001107681 RCV001107683 RCV001107680 RCV001107682 RCV001174809 RCV002069760
NM_000518.5(HBB):c.60C>T (p.Asn20=)	SNV Germline	Chr11:5226962	Conflicting classifications of pathogenicity	Condition: not provided beta Thalassemia not specified	Criteria Provided Conflicting Classifications	CA5839815	rs_63750840	4 SubmittersRCV001400263 RCV001836395 RCV005237782
NM_000518.4(HBB):c.-136C>A	SNV Germline	Chr11:5227157	Likely pathogenic	beta Thalassemia	Criteria Provided Single Submitter	CA217115830	rs_33994806	1 SubmittersRCV003236443
NM_000518.5(HBB):c.323G>A (p.Gly108Asp)	SNV Germline	Chr11:5225719	Likely pathogenic	Condition: not provided beta Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA217112823	rs_35519485	2 SubmittersRCV003557551 RCV006644918
NM_000518.5(HBB):c.327C>G (p.Asn109Lys)	SNV Germline	Chr11:5225715	Likely pathogenic	beta Thalassemia Condition: not provided 8 conditions	Criteria Provided Multiple Submitters No Conflicts			4 SubmittersRCV004690867 RCV005000574 RCV005051468
NM_000518.5(HBB):c.127T>A (p.Phe43Ile)	SNV Germline	Chr11:5226765	Likely pathogenic	beta Thalassemia	No Assertion Criteria Provided			1 SubmittersRCV006597605

SNV
Germline

Chr11:5225611

Pathogenic/Likely pathogenic

HEMOGLOBIN ABRUZZO
Condition: not provided
beta Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA124714

rs_33918338

4 SubmittersRCV000016243 RCV001284490 RCV006644330

NM_000518.4(HBB):c.19G>A (p.Glu7Lys)

SNV
Germline

Chr11:5227003

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA124780

rs_33930165

35 SubmittersRCV000016285 RCV000016284 RCV000202507 RCV000224028 RCV000576347 RCV001813746 RCV001535943 RCV002288494 RCV002415418 RCV003137529 RCV003150807 RCV003335041 RCV004017254 RCV005049343 RCV005357128 RCV006636187

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

Criteria Provided
Conflicting Classifications

CA124797

rs_33947415

19 SubmittersRCV000016301 RCV000396079 RCV000587680 RCV000709890 RCV001107023 RCV000855646 RCV001004567 RCV001107022 RCV001535933 RCV005417430 RCV005049344 RCV005364880 RCV006688354

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

SNV
Germline

Chr11:5225654

Conflicting classifications of pathogenicity

HEMOGLOBIN CRETE
beta Thalassemia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA124812

rs_35939430

4 SubmittersRCV000016309 RCV001823097 RCV004998083 RCV005437962

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
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

22 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
beta Thalassemia
not specified
Condition: not provided
Hemoglobin E disease
Anemia
9 conditions
Inborn genetic diseases
Beta-thalassemia HBB/LCRB
Malaria, susceptibility to
8 conditions
Heinz body anemia
Hb SS disease
Beta-thalassemia HBB/LCRB
alpha Thalassemia
Dominant beta-thalassemia
HBB-related disorder
7 conditions
Hereditary persistence of fetal hemoglobin
Hemoglobin E/beta- thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA124838

rs_33950507

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

NM_000518.4(HBB):c.68A>C (p.Glu23Ala)

SNV
Germline

Chr11:5226954

Conflicting classifications of pathogenicity

HEMOGLOBIN G (TAEGU)
HEMOGLOBIN G (SASKATOON)
HEMOGLOBIN G (COUSHATTA)
HEMOGLOBIN G (HSIN-CHU)
beta Thalassemia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA124853

rs_33936254

7 SubmittersRCV000016346 RCV000016344 RCV000016343 RCV000016345 RCV000030001 RCV000224041 RCV003226160

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
8 conditions
not specified

Criteria Provided
Conflicting Classifications

CA124912

rs_33925391

8 SubmittersRCV000016384 RCV000759797 RCV001507092 RCV005049347 RCV006688355

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_000518.5(HBB):c.140G>A (p.Gly47Glu)

SNV
Germline

Chr11:5226752

Conflicting classifications of pathogenicity

HEMOGLOBIN K (IBADAN)
Condition: not provided
beta Thalassemia
not specified

Criteria Provided
Conflicting Classifications

CA124971

rs_35303218

4 SubmittersRCV000016430 RCV001811156 RCV005614373 RCV006688357

NM_000518.4(HBB):c.92G>C (p.Arg31Thr)

SNV
Germline

Chr11:5226930

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA213890

rs_33960103

21 SubmittersRCV000016432 RCV000506942 RCV001004351 RCV001794452 RCV003338382 RCV004732545 RCV005049349

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

SNV
Germline

Chr11:5226940

Pathogenic

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

Reviewed By Expert Panel

CA124983

rs_35424040

16 SubmittersRCV000016439 RCV000016440 RCV000016441 RCV000169609 RCV000757368 RCV000780311 RCV001004353 RCV003992156 RCV005049350 RCV005623063

NM_000518.5(HBB):c.295G>A (p.Val99Met)

SNV
Germline

Chr11:5226597

Pathogenic

Hemoglobinopathy
Heinz body anemia
beta Thalassemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA124987

rs_33933298

6 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.389C>T (p.Ala130Val)

SNV
Germline

Chr11:5225653

Conflicting classifications of pathogenicity

HEMOGLOBIN LA DESIRADE
Hb SS disease
Condition: not provided
Hemoglobinopathy
8 conditions
beta Thalassemia

Criteria Provided
Conflicting Classifications

CA124993

rs_111645889

9 SubmittersRCV000016450 RCV001004559 RCV001284158 RCV001804165 RCV005049351 RCV006644332

NM_000518.5(HBB):c.127T>C (p.Phe43Leu)

SNV
Germline

Chr11:5226765

Likely pathogenic

Hemolytic anemia
beta Thalassemia

Criteria Provided
Single Submitter

CA125001

rs_33924146

2 SubmittersRCV000016458 RCV006644333

NM_000518.5(HBB):c.190C>T (p.His64Tyr)

SNV
Germline

Chr11:5226702

Pathogenic/Likely pathogenic

HEMOGLOBIN M (SASKATOON)
HEMOGLOBIN M (RADOM) METHEMOGLOBINEMIA, BETA TYPE
beta Thalassemia
Inborn genetic diseases
Condition: not provided
METHEMOGLOBINEMIA, BETA TYPE

Criteria Provided
Multiple Submitters
No Conflicts

CA125011

rs_33922873

9 SubmittersRCV000016466 RCV000641524 RCV000988480 RCV001266995 RCV004998088 RCV005429213

NM_000518.5(HBB):c.59A>G (p.Asn20Ser)

SNV
Germline

Chr11:5226963

Pathogenic

HEMOGLOBIN MALAY
BETA-PLUS-THALASSEMIA
Beta-Malay-thalassemia
beta Thalassemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA125015

rs_33972047

7 SubmittersRCV000016479 RCV000016480 RCV000016481 RCV000020338 RCV000508637

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 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

12 SubmittersRCV000016524 RCV000016525 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

5 SubmittersRCV000016563 RCV000781459 RCV001811163 RCV001831571

NM_000518.4(HBB):c.304G>C (p.Glu102Gln)

SNV
Germline

Chr11:5226588

Likely pathogenic

HEMOGLOBIN RUSH
beta Thalassemia

Criteria Provided
Single Submitter

CA125136

rs_33966487

2 SubmittersRCV000016572 RCV006644334

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

SNV
Germline

Chr11:5225714

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
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.4G>A (p.Val2Met)

SNV
Germline

Chr11:5227018

Conflicting classifications of pathogenicity

HEMOGLOBIN SOUTH FLORIDA
not specified
beta Thalassemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA125180

rs_33958358

6 SubmittersRCV000016609 RCV000508674 RCV001831572 RCV005229803

NM_000518.4(HBB):c.191A>G (p.His64Arg)

SNV
Germline

Chr11:5226701

Likely pathogenic

HEMOGLOBIN ZURICH
Condition: not provided
Hemoglobinopathy
beta Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA125255

rs_33985544

5 SubmittersRCV000016654 RCV001284634 RCV003987323 RCV006644335

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
HBB-related disorder

Reviewed By Expert Panel

CA125257

rs_33986703

21 SubmittersRCV000016655 RCV000020337 RCV000507505 RCV000763255 RCV001004355 RCV002288498 RCV005049356 RCV005400415 RCV006704479

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
HBB-related disorder
Malaria, susceptibility to
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA125259

rs_11549407

44 SubmittersRCV000016656 RCV000254827 RCV000379715 RCV001004570 RCV001197268 RCV002221479 RCV002288499 RCV002336086 RCV004532366 RCV003987324 RCV005003361

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

SNV
Germline

Chr11:5226975

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125261

rs_63750783

17 SubmittersRCV000016657 RCV000508601 RCV000576738 RCV001004356 RCV003985073 RCV005049357

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

SNV
Germline

Chr11:5225678

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125263

rs_33946267

8 SubmittersRCV000016658 RCV000507274 RCV000984185 RCV001004560 RCV005430462

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

SNV
Germline

Chr11:5226778

Pathogenic

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

Reviewed By Expert Panel

CA125265

rs_33974936

13 SubmittersRCV000016659 RCV000169502 RCV000506223 RCV000781456 RCV006694354

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

SNV
Germline

Chr11:5226762

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125267

rs_33922842

12 SubmittersRCV000016660 RCV000506797 RCV000665678 RCV000780310 RCV001004568 RCV004795419 RCV005049358

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

SNV
Germline

Chr11:5226708

Pathogenic

Beta zero thalassemia
Condition: not provided
beta Thalassemia
9 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA125269

rs_33995148

7 SubmittersRCV000016661 RCV000506527 RCV001078254 RCV002504795

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

SNV
Germline

Chr11:5226784

Pathogenic

Beta zero thalassemia
beta Thalassemia
Condition: not provided
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA125271

rs_33982568

6 SubmittersRCV000016662 RCV001078304 RCV001800305 RCV005049359

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

SNV
Germline

Chr11:5227020

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125299

rs_33941849

10 SubmittersRCV000016691 RCV000505904 RCV000664667 RCV001004361 RCV005049363 RCV005430107

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
Inborn genetic diseases
8 conditions
Dominant beta-thalassemia
Erythrocytosis, familial, 6

Criteria Provided
Multiple Submitters
No Conflicts

CA125303

rs_33971440

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

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

SNV
Germline

Chr11:5226929

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125304

rs_33971440

19 SubmittersRCV000016695 RCV000169505 RCV000507580 RCV001004349 RCV002444432 RCV004532369 RCV004689419 RCV005003369

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
Beta-thalassemia HBB/LCRB
Malaria, susceptibility to
8 conditions
Erythrocytosis, familial, 6
HBB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA125305

rs_33945777

32 SubmittersRCV000016696 RCV000020332 RCV000255349 RCV001004566 RCV001731303 RCV001723572 RCV002288502 RCV003987325 RCV005003370 RCV005357132 RCV006636188

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

SNV
Germline

Chr11:5226800

Pathogenic

Beta zero thalassemia
Condition: not provided
beta Thalassemia
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA125309

rs_33943001

7 SubmittersRCV000016704 RCV000508208 RCV000587419 RCV005049364

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 HBB/LCRB
Beta-thalassemia major
Inborn genetic diseases
Hereditary persistence of fetal hemoglobin
Malaria, susceptibility to
HBB-related disorder
Dominant beta-thalassemia
Hemoglobin E/beta- thalassemia
8 conditions

Reviewed By Expert Panel

CA125310

rs_33915217

39 SubmittersRCV000016705 RCV000020341 RCV000255746 RCV000763253 RCV001004348 RCV002288503 RCV001794453 RCV002444433 RCV003445071 RCV003987326 RCV004732547 RCV004814907 RCV005252684 RCV005049365

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

SNV
Germline

Chr11:5226925

Pathogenic

BETA-PLUS-THALASSEMIA
Condition: not provided
beta Thalassemia
Beta-thalassemia HBB/LCRB
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA125311

rs_33915217

10 SubmittersRCV000016706 RCV000505898 RCV000984182 RCV005430463 RCV005049366

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

SNV
Germline

Chr11:5226925

Pathogenic

BETA-PLUS-THALASSEMIA
beta Thalassemia
Condition: not provided
Beta-thalassemia HBB/LCRB
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA125312

rs_33915217

10 SubmittersRCV000016707 RCV000030004 RCV001216321 RCV005867761 RCV005049367

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

SNV
Germline

Chr11:5226924

Pathogenic/Likely pathogenic

BETA-PLUS-THALASSEMIA
Condition: not provided
beta Thalassemia
9 conditions
Hb SS disease
Heinz body anemia
Inborn genetic diseases
Beta-thalassemia HBB/LCRB
Malaria, susceptibility to
HBB-related disorder
Erythrocytosis, familial, 6
8 conditions
Beta thalassemia intermedia

Criteria Provided
Multiple Submitters
No Conflicts

CA125313

rs_35724775

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

NM_000518.5(HBB):c.316-3C>A

SNV
Germline

Chr11:5225729

Pathogenic/Likely pathogenic

BETA-PLUS-THALASSEMIA
Beta thalassemia intermedia
Condition: not provided
beta Thalassemia
9 conditions
HBB-related disorder
Beta-thalassemia HBB/LCRB
Acute myeloid leukemia

Criteria Provided
Multiple Submitters
No Conflicts

CA125314

rs_33913413

15 SubmittersRCV000016709 RCV000029987 RCV000506607 RCV000984183 RCV002496382 RCV004528115 RCV005430464 RCV005887530

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

SNV
Germline

Chr11:5226820

Pathogenic

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

Reviewed By Expert Panel

CA125315

rs_35004220

40 SubmittersRCV000016712 RCV000020343 RCV000030008 RCV000763251 RCV000799079 RCV001004346 RCV001262998 RCV002288504 RCV002371775 RCV003989289 RCV005049369 RCV005357134 RCV006696276

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
HBB-related disorder
Erythrocytosis, familial, 6
8 conditions

Reviewed By Expert Panel

CA125316

rs_34690599

25 SubmittersRCV000016715 RCV000029978 RCV000506445 RCV001004564 RCV002272021 RCV002288505 RCV004732548 RCV005357135 RCV005003371

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

SNV
Germline

Chr11:5225923

Pathogenic

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

Reviewed By Expert Panel

CA125317

rs_34451549

15 SubmittersRCV000016716 RCV000020334 RCV000029984 RCV000794203 RCV001004565 RCV004532371 RCV005049370 RCV006694355

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

12 SubmittersRCV000016717 RCV000030002 RCV000508672 RCV001004354 RCV002496383

NC_000011.10:g.5227159G>A

SNV
Germline

Chr11:5227159

Pathogenic/Likely pathogenic

BETA-PLUS-THALASSEMIA
beta Thalassemia
Condition: not provided
Hemoglobinopathy
Inborn genetic diseases
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA125320

rs_33944208

12 SubmittersRCV000016718 RCV000020324 RCV000507151 RCV000781453 RCV002390113 RCV005049371

NC_000011.10:g.5227172G>A

SNV
Germline

Chr11:5227172

Pathogenic

BETA-PLUS-THALASSEMIA
beta Thalassemia
Condition: not provided
HBB-related disorder
Malaria, susceptibility to
Beta-thalassemia HBB/LCRB
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA125321

rs_63751208

17 SubmittersRCV000016719 RCV000169081 RCV000820736 RCV004532372 RCV003989290 RCV004566749 RCV005003372

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

SNV
Germline

Chr11:5227163

Pathogenic/Likely pathogenic

BETA-PLUS-THALASSEMIA
beta Thalassemia
Beta thalassemia intermedia
Condition: not provided
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA125322

rs_34883338

6 SubmittersRCV000016720 RCV000445639 RCV000589915 RCV003476899 RCV005049372

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

SNV
Germline

Chr11:5227158

Pathogenic

BETA-PLUS-THALASSEMIA
Beta thalassemia intermedia
beta Thalassemia
Condition: not provided
9 conditions
Beta-thalassemia HBB/LCRB

Reviewed By Expert Panel

CA125323

rs_33941377

12 SubmittersRCV000016722 RCV000029951 RCV000445653 RCV000507653 RCV002496385 RCV006694356

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

SNV
Germline

Chr11:5227157

Pathogenic/Likely pathogenic

BETA-PLUS-THALASSEMIA
beta Thalassemia
Condition: not provided
Beta-thalassemia HBB/LCRB

Criteria Provided
Multiple Submitters
No Conflicts

CA125324

rs_33994806

11 SubmittersRCV000016723 RCV000029948 RCV000505925 RCV004689420

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

SNV
Germline

Chr11:5227102

Pathogenic

BETA-PLUS-THALASSEMIA
beta Thalassemia
Condition: not provided
Beta thalassemia intermedia
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA125325

rs_33981098

10 SubmittersRCV000016724 RCV000445643 RCV000506722 RCV001255596 RCV005049373

NM_000518.5(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

9 SubmittersRCV000016725 RCV000029962 RCV000508486 RCV001000147

NC_000011.10:g.5227100T>C

SNV
Germline

Chr11:5227100

Pathogenic

BETA-PLUS-THALASSEMIA
beta Thalassemia
Condition: not provided
Heinz body anemia
Inborn genetic diseases
8 conditions
Beta-thalassemia HBB/LCRB

Criteria Provided
Multiple Submitters
No Conflicts

CA125327

rs_34598529

17 SubmittersRCV000016727 RCV000020326 RCV000810653 RCV002247350 RCV002415420 RCV005003373 RCV005867762

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

SNV
Germline

Chr11:5227099

Pathogenic

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

Reviewed By Expert Panel

CA125328

rs_33931746

12 SubmittersRCV000016728 RCV000508592 RCV000589656 RCV001004363 RCV005003374 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

16 SubmittersRCV000016729 RCV000029960 RCV000506257 RCV001004362 RCV004795422 RCV005049374

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

SNV
Germline

Chr11:5225485

Pathogenic

BETA-PLUS-THALASSEMIA
beta Thalassemia
Condition: not provided
Beta-thalassemia HBB/LCRB

Criteria Provided
Multiple Submitters
No Conflicts

CA125330

rs_33985472

6 SubmittersRCV000016731 RCV000445642 RCV002513070 RCV005430109

NM_000518.5(HBB):c.*112A>G

SNV
Germline

Chr11:5225486

Pathogenic/Likely pathogenic

BETA-PLUS-THALASSEMIA
beta Thalassemia
Beta-thalassemia HBB/LCRB
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA125331

rs_63750954

4 SubmittersRCV000016734 RCV005055516 RCV005867763 RCV006461169

NM_000518.5(HBB):c.343C>A (p.Leu115Met)

SNV
Germline

Chr11:5225699

Likely pathogenic

HEMOGLOBIN ZENGCHENG
beta Thalassemia

Criteria Provided
Single Submitter

CA125343

rs_33917394

2 SubmittersRCV000016745 RCV006644336

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

SNV
Germline

Chr11:5225487

Pathogenic

BETA-PLUS-THALASSEMIA
beta Thalassemia
Condition: not provided
Hemoglobinopathy
Beta-thalassemia HBB/LCRB

Reviewed By Expert Panel

CA125347

rs_63751128

10 SubmittersRCV000016748 RCV000445654 RCV000506983 RCV001193152 RCV004566750

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

CA217112854

rs_33952266

3 SubmittersRCV000016774 RCV001078268 RCV001800306

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

SNV
Germline

Chr11:5225698

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125376

rs_36015961

8 SubmittersRCV000016775 RCV000016777 RCV000016776 RCV000759070 RCV001731305 RCV001826469 RCV005049375

NM_000518.5(HBB):c.-140C>T

SNV
Germline

Chr11:5227161

Pathogenic/Likely pathogenic

BETA-PLUS-THALASSEMIA
beta Thalassemia
Beta thalassemia intermedia
Condition: not provided
HBB-related disorder
Beta-thalassemia HBB/LCRB
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA125377

rs_34999973

15 SubmittersRCV000016778 RCV000029954 RCV000202364 RCV001069376 RCV002260510 RCV002288506 RCV005049376

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

7 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

CA217114698

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

6 SubmittersRCV000016855 RCV000588829 RCV000855596 RCV001835629

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

SNV
Germline

Chr16:173598

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125550

rs_41464951

8 SubmittersRCV000016893 RCV000022603 RCV000985726 RCV002250461 RCV004017255

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

SNV
Germline

Chr16:173692

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
HBA2-related alpha thalassemia spectrum

Reviewed By Expert Panel

CA125586

rs_63750067

11 SubmittersRCV000016933 RCV000022604 RCV000507591 RCV001831575 RCV002476983 RCV003989291 RCV004017256 RCV006694358

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

SNV
Germline

Chr11:5225728

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA341710

rs_33914668

8 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
Thymoma

Criteria Provided
Multiple Submitters
No Conflicts

CA341711

rs_33914668

14 SubmittersRCV000016701 RCV000020336 RCV000508360 RCV001004562 RCV002504815 RCV003389313 RCV005887591

NC_000011.10:g.5227154C>T

SNV
Germline

Chr11:5227154

Conflicting classifications of pathogenicity

beta Thalassemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA342841

rs_72561473

5 SubmittersRCV000029947 RCV000861030

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

SNV
Germline

Chr11:5227157

Pathogenic/Likely pathogenic

beta Thalassemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342842

rs_33994806

2 SubmittersRCV000029949 RCV004998111

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

SNV
Germline

Chr11:5227158

Pathogenic/Likely pathogenic

beta Thalassemia
Condition: not provided
9 conditions
Beta thalassemia intermedia
8 conditions
Beta-thalassemia HBB/LCRB

Criteria Provided
Multiple Submitters
No Conflicts

CA213883

rs_33941377

10 SubmittersRCV000445644 RCV000506877 RCV000763257 RCV001797592 RCV005003404 RCV005430466

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

8 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
Fetal hemoglobin quantitative trait locus 1
Hb SS disease
Hemoglobin E
not specified
Dominant beta-thalassemia
HBB-related disorder
8 conditions

Criteria Provided
Conflicting Classifications

CA342844

rs_63750628

9 SubmittersRCV000029956 RCV000755548 RCV001104362 RCV001104361 RCV001104363 RCV001420720 RCV002272029 RCV004732554 RCV005049387

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

SNV
Germline

Chr11:5227071

Pathogenic/Likely pathogenic

beta Thalassemia
Condition: not provided
BETA-PLUS-THALASSEMIA
8 conditions
Beta-thalassemia HBB/LCRB

Criteria Provided
Multiple Submitters
No Conflicts

CA342845

rs_34305195

9 SubmittersRCV000029957 RCV000508619 RCV001838527 RCV005049388 RCV005430467

NC_000011.10:g.5227113G>C

SNV
Germline

Chr11:5227113

Conflicting classifications of pathogenicity

beta Thalassemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA342848

rs_397515291

5 SubmittersRCV000029963 RCV000759806

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

SNV
Germline

Chr11:5227020

Pathogenic

Beta zero thalassemia
BETA-THALASSEMIA, LERMONTOV TYPE
beta Thalassemia
Condition: not provided
Beta-thalassemia HBB/LCRB
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA125301

rs_33941849

10 SubmittersRCV000016692 RCV000016693 RCV000029976 RCV000508042 RCV002465492 RCV005049390

NM_000518.5(HBB):c.316-146T>G

SNV
Germline

Chr11:5225872

Pathogenic

BETA-PLUS-THALASSEMIA
beta Thalassemia
Condition: not provided
Beta-thalassemia HBB/LCRB

Reviewed By Expert Panel

CA213888

rs_35328027

7 SubmittersRCV000016714 RCV000029979 RCV000985748 RCV006694362

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

SNV
Germline

Chr11:5225740

Pathogenic/Likely pathogenic

beta Thalassemia
Condition: not provided
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA342858

rs_35703285

10 SubmittersRCV000029980 RCV000759066 RCV005049391

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

SNV
Germline

Chr11:5225718

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA342866

rs_193922562

8 SubmittersRCV000507146 RCV000759069 RCV001103966 RCV001103967 RCV001103968 RCV001103969 RCV005572269 RCV005049393

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.*96T>C

SNV
Germline

Chr11:5225502

Conflicting classifications of pathogenicity

beta Thalassemia
Condition: not provided
HBB-related disorder

Criteria Provided
Conflicting Classifications

CA342875

rs_34029390

9 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
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA213889

rs_33978907

15 SubmittersRCV000016730 RCV000445649 RCV000506540 RCV001004557 RCV004566754 RCV005049394

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

SNV
Germline

Chr11:5226928

Pathogenic

beta Thalassemia
Condition: not provided
9 conditions
Beta zero thalassemia
Nonpapillary renal cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA342876

rs_33956879

10 SubmittersRCV000030003 RCV000506748 RCV002496456 RCV003991531 RCV005888729

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

SNV
Germline

Chr11:5226930

Likely pathogenic

beta Thalassemia
Condition: not provided
8 conditions
Beta-thalassemia HBB/LCRB

Criteria Provided
Multiple Submitters
No Conflicts

CA342877

rs_33960103

8 SubmittersRCV000030006 RCV000506003 RCV005049395 RCV005430110

NM_000518.5(HBB):c.93-23T>C

SNV
Germline

Chr11:5226822

Conflicting classifications of pathogenicity

Condition: not provided
HBB-related disorder
Beta-thalassemia HBB/LCRB
beta Thalassemia

Criteria Provided
Conflicting Classifications

CA342879

rs_111851677

9 SubmittersRCV000860961 RCV004532420 RCV003323278 RCV000030010

NM_000518.5(HBB):c.93-3T>G

SNV
Germline

Chr11:5226802

Pathogenic/Likely pathogenic

BETA-PLUS-THALASSEMIA
beta Thalassemia
Beta thalassemia intermedia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342880

rs_34527846

8 SubmittersRCV000016710 RCV000030011 RCV002222330 RCV002477023

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

SNV
Germline

Chr11:5226974

Pathogenic

Condition: not provided
beta Thalassemia
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA217115390

rs_34716011

12 SubmittersRCV000508624 RCV000589075 RCV005049397

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

SNV
Germline

Chr11:5226943

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA217115188

rs_33950507

7 SubmittersRCV000507549 RCV000674991 RCV000781460 RCV005430471

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

SNV
Germline

Chr11:5226928

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA217115033

rs_33956879

8 SubmittersRCV000016739 RCV000506130 RCV000665219 RCV005430111

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

SNV
Germline

Chr11:5225727

Likely pathogenic

Condition: not provided
beta Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA217112852

rs_33952266

3 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

beta Thalassemia
Condition: not provided

Criteria Provided
Single Submitter

CA346836

rs_33945777

3 SubmittersRCV000169544 RCV001850405

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

SNV
Germline

Chr16:173694

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16602272

rs_63751269

11 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

5 SubmittersRCV000445641 RCV002265766 RCV002522737

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

SNV
Germline

Chr11:5225733

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16609383

rs_34483965

5 SubmittersRCV000445651 RCV000781440 RCV001284152 RCV005430354

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

7 SubmittersRCV000445640 RCV000781439 RCV002522735

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

SNV
Germline

Chr11:5227159

Pathogenic/Likely pathogenic

BETA-PLUS-THALASSEMIA
beta Thalassemia
Condition: not provided
9 conditions
Hemoglobinopathy
not specified
Beta-thalassemia HBB/LCRB

Criteria Provided
Multiple Submitters
No Conflicts

CA16609387

rs_33944208

13 SubmittersRCV000016721 RCV000445645 RCV000505872 RCV000762846 RCV000781451 RCV003488595 RCV005430536

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

SNV
Germline

Chr11:5225851

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA217112977

rs_63751175

9 SubmittersRCV000508509 RCV001078266 RCV001281704 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
Fetal hemoglobin quantitative trait locus 1
beta Thalassemia
Hb SS disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5839740

rs_769583496

6 SubmittersRCV000507587 RCV000756242 RCV001104256 RCV001104255 RCV001104257 RCV001104258 RCV004629226

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

SNV
Germline

Chr11:5226800

Pathogenic

Beta zero thalassemia
Condition: not provided
beta Thalassemia
Beta-thalassemia major
Beta-thalassemia HBB/LCRB

Criteria Provided
Multiple Submitters
No Conflicts

CA5839768

rs_33943001

10 SubmittersRCV000016769 RCV000506434 RCV001078336 RCV001375484 RCV004689769

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

SNV
Germline

Chr11:5226801

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA379274661

rs_63750513

5 SubmittersRCV000507399 RCV000780315 RCV001078337 RCV004696927

NM_000518.5(HBB):c.33C>A (p.Ala11=)

SNV
Germline

Chr11:5226989

Conflicting classifications of pathogenicity

Condition: not provided
beta Thalassemia
Inborn genetic diseases
HBB-related disorder

Criteria Provided
Conflicting Classifications

CA5839818

rs_35799536

8 SubmittersRCV000757356 RCV001374655 RCV002455977 RCV004535634

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

SNV
Germline

Chr11:5227021

Pathogenic

Condition: not provided
Hemoglobinopathy
beta Thalassemia
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA217115654

rs_34563000

6 SubmittersRCV000507448 RCV000780324 RCV001078261 RCV005049575

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

SNV
Germline

Chr11:5227103

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA217115785

rs_34500389

7 SubmittersRCV000507303 RCV001078343 RCV000855594 RCV004732913 RCV005049577

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
Hemoglobinopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA217114568

rs_33991059

5 SubmittersRCV000506586 RCV001078348 RCV003558431 RCV006690581

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

4 SubmittersRCV000588257 RCV000985744

NM_000518.5(HBB):c.-140C>G

SNV
Germline

Chr11:5227161

Conflicting classifications of pathogenicity

not specified
beta Thalassemia
Condition: not provided
8 conditions

Criteria Provided
Conflicting Classifications

CA658683682

rs_34999973

6 SubmittersRCV000589253 RCV001078396 RCV005000361 RCV005049610

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

SNV
Germline

Chr11:5225727

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA217112873

rs_33952266

7 SubmittersRCV000668023 RCV000736022 RCV003558495 RCV005430580

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.93-15T>G

SNV
Germline

Chr11:5226814

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA217114761

rs_35456885

8 SubmittersRCV000016713 RCV000665080 RCV004568488 RCV005422928

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

SNV
Germline

Chr11:5226931

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA217115069

rs_35684407

6 SubmittersRCV000721920 RCV001284494 RCV004689867

NM_000518.5(HBB):c.316-3C>G

SNV
Germline

Chr11:5225729

Likely pathogenic

Beta zero thalassemia
Condition: not provided
beta Thalassemia

Criteria Provided
Single Submitter

CA217112885

rs_33913413

3 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

CA217113399

rs_33945777

5 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
Nonpapillary renal cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA217115031

rs_33956879

7 SubmittersRCV000016697 RCV000759805 RCV001001413 RCV001078334 RCV005897320

NM_000518.5(HBB):c.316-179A>C

SNV
Germline

Chr11:5225905

Conflicting classifications of pathogenicity

not specified
Condition: not provided
beta Thalassemia

Criteria Provided
Conflicting Classifications

CA217113009

rs_185607297

4 SubmittersRCV000780328 RCV000937128 RCV003315253

NM_000518.5(HBB):c.190C>A (p.His64Asn)

SNV
Germline

Chr11:5226702

Pathogenic/Likely pathogenic

HEMOGLOBIN HANA
METHEMOGLOBINEMIA, BETA TYPE
beta Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA217114143

rs_33922873

3 SubmittersRCV000855777 RCV005208152 RCV006644667

NM_000518.5(HBB):c.-121C>T

SNV
Germline

Chr11:5227142

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA217115815

rs_281864518

6 SubmittersRCV000985736 RCV001078347 RCV006685343

NM_000518.5(HBB):c.118C>A (p.Gln40Lys)

SNV
Germline

Chr11:5226774

Conflicting classifications of pathogenicity

Condition: not provided
HEMOGLOBIN ALABAMA
beta Thalassemia

Criteria Provided
Conflicting Classifications

CA217114557

rs_11549407

3 SubmittersRCV001811595 RCV002280786 RCV005614479

NM_000518.5(HBB):c.51C>T (p.Gly17=)

SNV
Germline

Chr11:5226971

Pathogenic/Likely pathogenic

Condition: not provided
beta Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA472885859

rs_370075492

3 SubmittersRCV001811615 RCV006644679

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

SNV
Germline

Chr11:5225490

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

CA916083171

rs_1847518799

1 SubmittersRCV001078298

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

SNV
Germline

Chr11:5225566

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

CA916083172

rs_1847520793

1 SubmittersRCV001078301

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

SNV
Germline

Chr11:5225645

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

CA217112395

rs_33953406

1 SubmittersRCV001078375

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

SNV
Germline

Chr11:5225648

Likely pathogenic

beta Thalassemia

Criteria Provided
Single Submitter

CA379273681

rs_33910209

2 SubmittersRCV001078372

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

SNV
Germline

Chr11:5225703

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

CA217112750

rs_33930977

1 SubmittersRCV001078327

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

SNV
Germline

Chr11:5226693

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

CA379273874

rs_34165323

1 SubmittersRCV001078258

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

SNV
Germline

Chr11:5226714

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

CA217114202

rs_33969400

1 SubmittersRCV001078251

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

SNV
Germline

Chr11:5226784

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

CA379274598

rs_33982568

1 SubmittersRCV001078305

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

SNV
Germline

Chr11:5226785

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

CA379274600

rs_35857380

1 SubmittersRCV001078303

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

SNV
Germline

Chr11:5226799

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

CA217114684

rs_1135071

1 SubmittersRCV001078384

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

SNV
Germline

Chr11:5226931

Pathogenic/Likely pathogenic

beta Thalassemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA217115065

rs_35684407

3 SubmittersRCV001078278 RCV005232121

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

SNV
Germline

Chr11:5226955

Pathogenic

beta Thalassemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA217115260

rs_33959855

3 SubmittersRCV001078431 RCV001862655

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

SNV
Germline

Chr11:5227000

Pathogenic

beta Thalassemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA379274972

rs_34948328

3 SubmittersRCV001078316 RCV003478695

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

SNV
Germline

Chr11:5227003

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

CA379274985

rs_33930165

1 SubmittersRCV001078259

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

SNV
Germline

Chr11:5227019

Likely pathogenic

beta Thalassemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA217115639

rs_33930702

3 SubmittersRCV001078378 RCV004998643

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

SNV
Germline

Chr11:5227019

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

CA217115643

rs_33930702

1 SubmittersRCV001078377

NM_000518.5(HBB):c.1A>C (p.Met1Leu)

SNV
Germline

Chr11:5227021

Pathogenic/Likely pathogenic

beta Thalassemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA379275050

rs_34563000

3 SubmittersRCV001078260 RCV001811644

NC_000011.10:g.5227096C>A

SNV
Germline

Chr11:5227096

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

CA916083229

rs_63750400

1 SubmittersRCV001078295

NC_000011.10:g.5227097T>G

SNV
Germline

Chr11:5227097

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

CA217115748

rs_281864525

1 SubmittersRCV001078338

NC_000011.10:g.5227098T>A

SNV
Germline

Chr11:5227098

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

CA916083230

rs_1847591425

1 SubmittersRCV001078339

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

SNV
Germline

Chr11:5227100

Pathogenic/Likely pathogenic

beta Thalassemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA916083231

rs_34598529

3 SubmittersRCV001078340 RCV003478696

NC_000011.10:g.5227101A>C

SNV
Germline

Chr11:5227101

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

CA217115768

rs_33980857

1 SubmittersRCV001078341

NM_000518.5(HBB):c.-80T>C

SNV
Germline

Chr11:5227101

Pathogenic

BETA-PLUS-THALASSEMIA
beta Thalassemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA217115773

rs_33980857

5 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

CA677538286

rs_1272414751

5 SubmittersRCV001078393 RCV001824922 RCV003478697

NC_000011.10:g.5227147G>T

SNV
Germline

Chr11:5227147

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

CA916083233

rs_1847592435

1 SubmittersRCV001078394

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

SNV
Germline

Chr11:5226572

Pathogenic

beta Thalassemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA217113381

rs_35099082

4 SubmittersRCV001078427 RCV003327489

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

SNV
Germline

Chr11:5226575

Pathogenic

beta Thalassemia

Criteria Provided
Single Submitter

CA217113386

rs_63750283

2 SubmittersRCV001078425

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

SNV
Germline

Chr11:5226929

Pathogenic

beta Thalassemia

No Assertion Criteria Provided

CA379274739

rs_33971440

1 SubmittersRCV001078281

NM_000518.5(HBB):c.85C>T (p.Leu29=)

SNV
Germline

Chr11:5226937

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA217115132

rs_33958088

3 SubmittersRCV001107681 RCV001107683 RCV001107680 RCV001107682 RCV001174809 RCV002069760

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

SNV
Germline

Chr11:5226962

Conflicting classifications of pathogenicity

Condition: not provided
beta Thalassemia
not specified

Criteria Provided
Conflicting Classifications

CA5839815

rs_63750840

4 SubmittersRCV001400263 RCV001836395 RCV005237782

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

SNV
Germline

Chr11:5227157

Likely pathogenic

beta Thalassemia

Criteria Provided
Single Submitter

CA217115830

rs_33994806

1 SubmittersRCV003236443

NM_000518.5(HBB):c.323G>A (p.Gly108Asp)

SNV
Germline

Chr11:5225719

Likely pathogenic

Condition: not provided
beta Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA217112823

rs_35519485

2 SubmittersRCV003557551 RCV006644918

NM_000518.5(HBB):c.327C>G (p.Asn109Lys)

SNV
Germline

Chr11:5225715

Likely pathogenic

beta Thalassemia
Condition: not provided
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV004690867 RCV005000574 RCV005051468

NM_000518.5(HBB):c.127T>A (p.Phe43Ile)

SNV
Germline

Chr11:5226765

Likely pathogenic

beta Thalassemia

No Assertion Criteria Provided

1 SubmittersRCV006597605