Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000517.4(HBA2):c.427T>A (p.Ter143Lys)	SNV Germline	Chr16:173598	Pathogenic	HEMOGLOBIN ICARIA Hemoglobin H disease, nondeletional Condition: not provided beta Thalassemia alpha Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA125550	rs_41464951	6 SubmittersRCV000016893 RCV000022603 RCV000985726 RCV004017255 RCV002250461
NM_000517.6(HBA2):c.428A>C (p.Ter143Ser)	SNV Germline	Chr16:173599	Pathogenic/Likely pathogenic	HEMOGLOBIN KOYA DORA Condition: not provided alpha Thalassemia Erythrocytosis, familial, 7 Heinz body anemia Hemoglobin H disease alpha Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA125552	rs_41321345	6 SubmittersRCV000016894 RCV000759055 RCV005007856 RCV004546413
NM_000517.6(HBA2):c.266C>T (p.Ala89Val)	SNV Germline	Chr16:173295	Pathogenic; other	HEMOGLOBIN COLUMBIA MISSOURI Erythrocytosis, familial, 7	No Assertion Criteria Provided	CA125554	rs_33983416	1 SubmittersRCV000016895 RCV000641309
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro)	SNV Germline	Chr16:173548	Pathogenic	Hemoglobin Quong Sze alpha Thalassemia Condition: not provided Erythrocytosis, familial, 7 Hemoglobin H disease alpha Thalassemia Heinz body anemia	Criteria Provided Multiple Submitters No Conflicts	CA125557	rs_41397847	7 SubmittersRCV000016897 RCV000417220 RCV001811168 RCV002476982
NM_000517.6(HBA2):c.329T>G (p.Leu110Arg)	SNV Germline	Chr16:173500	Pathogenic; other	HEMOGLOBIN SUAN-DOK alpha Thalassemia	No Assertion Criteria Provided	CA125561	rs_41479844	2 SubmittersRCV000016899 RCV001078246
NM_000517.6(HBA2):c.186G>C (p.Lys62Asn)	SNV Germline	Chr16:173215	Pathogenic; other	HEMOGLOBIN J (BUDA) Erythrocytosis, familial, 7	No Assertion Criteria Provided	CA125563	rs_33985574	1 SubmittersRCV000016900 RCV000641281
NM_000517.4(HBA2):c.49A>G (p.Lys17Glu)	SNV Germline	Chr16:172961	Conflicting classifications of pathogenicity	HEMOGLOBIN I HEMOGLOBIN I (BURLINGTON) HEMOGLOBIN I (PHILADELPHIA) HEMOGLOBIN I (SKAMANIA) HEMOGLOBIN I (TEXAS) Condition: not provided	Criteria Provided Conflicting Classifications	CA125567	rs_281865555	3 SubmittersRCV000016905 RCV000016906 RCV000016907 RCV000016908 RCV000016909 RCV000985727
NM_000517.4(HBA2):c.142G>C (p.Asp48His)	SNV Germline	Chr16:173171	Pathogenic/Likely pathogenic	HEMOGLOBIN HASHARON HEMOGLOBIN SEALY HEMOGLOBIN L (FERRARA) HEMOGLOBIN SINAI Condition: not provided alpha Thalassemia alpha Thalassemia Erythrocytosis, familial, 7 Heinz body anemia Hemoglobin H disease	Criteria Provided Multiple Submitters No Conflicts	CA125569	rs_281864834	7 SubmittersRCV000016911 RCV000016913 RCV000016910 RCV000016912 RCV001544589 RCV001275680 RCV005016273
NM_000517.6(HBA2):c.257A>T (p.Asp86Val)	SNV Germline	Chr16:173286	Conflicting classifications of pathogenicity	HEMOGLOBIN INKSTER Erythrocytosis, familial, 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA125574	rs_41331747	3 SubmittersRCV000016925 RCV000641307 RCV001284143
NM_000517.6(HBA2):c.391G>C (p.Ala131Pro)	SNV Germline	Chr16:173562	Conflicting classifications of pathogenicity	HEMOGLOBIN SUN PRAIRIE Condition: not provided not specified alpha Thalassemia Erythrocytosis, familial, 7 Heinz body anemia Hemoglobin H disease	Criteria Provided Conflicting Classifications	CA125576	rs_41529844	6 SubmittersRCV000016926 RCV000759053 RCV003234911 RCV005007857
NM_000517.6(HBA2):c.2T>C (p.Met1Thr)	SNV Germline	Chr16:172914	Pathogenic	alpha Thalassemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA281645	rs_111033603	5 SubmittersRCV000016929 RCV003654177
NM_000517.6(HBA2):c.349G>T (p.Glu117Ter)	SNV Germline	Chr16:173520	Pathogenic	alpha Thalassemia	No Assertion Criteria Provided	CA281647	rs_33987053	1 SubmittersRCV000016930
NM_000517.6(HBA2):c.1A>G (p.Met1Val)	SNV Germline	Chr16:172913	Pathogenic	Hemoglobin H disease, nondeletional alpha Thalassemia Condition: not provided alpha Thalassemia Erythrocytosis, familial, 7 Heinz body anemia Hemoglobin H disease	Criteria Provided Multiple Submitters No Conflicts	CA125582	rs_121909803	4 SubmittersRCV000016931 RCV001078242 RCV001284141 RCV005016274
NM_000517.6(HBA2):c.418A>G (p.Lys140Glu)	SNV Germline	Chr16:173589	Pathogenic; other	HEMOGLOBIN HANAMAKI Erythrocytosis, familial, 7	No Assertion Criteria Provided	CA125584	rs_41361546	1 SubmittersRCV000016932 RCV000641316
NM_000517.6(HBA2):c.*92A>G	SNV Germline	Chr16:173692	Pathogenic/Likely pathogenic	Alpha-thalassemia-2, nondeletional Hemoglobin H disease, nondeletional Condition: not provided alpha Thalassemia Erythrocytosis, familial, 7 Heinz body anemia Hemoglobin H disease beta Thalassemia alpha Thalassemia Hemoglobin H disease	Criteria Provided Multiple Submitters No Conflicts	CA125586	rs_63750067	8 SubmittersRCV000016933 RCV000022604 RCV000507591 RCV002476983 RCV004017256 RCV001831575 RCV003989291
NM_000517.6(HBA2):c.89T>C (p.Leu30Pro)	SNV Germline	Chr16:173001	Pathogenic	HEMOGLOBIN AGRINIO Hemoglobin H disease, nondeletional Condition: not provided alpha Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA125593	rs_41341344	4 SubmittersRCV000016937 RCV000022605 RCV000759059 RCV004700242
NM_000517.4(HBA2):c.429A>T (p.Ter143Tyr)	SNV Germline	Chr16:173600	Pathogenic	Hemoglobin H disease, nondeletional Condition: not provided alpha Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA125595	rs_41412046	5 SubmittersRCV000016938 RCV000508511 RCV001831576
NM_000517.4(HBA2):c.427T>G (p.Ter143Glu)	SNV Germline	Chr16:173598	Pathogenic/Likely pathogenic	HEMOGLOBIN SEAL ROCK Condition: not provided alpha Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA125597	rs_41464951	5 SubmittersRCV000016939 RCV000759054 RCV001275682
NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr)	SNV Germline	Chr16:173485	Pathogenic/Likely pathogenic	HEMOGLOBIN SALLANCHES Hemoglobin H disease, nondeletional Condition: not provided alpha Thalassemia Hemoglobin H disease alpha Thalassemia Erythrocytosis, familial, 7 Hemoglobin H disease Heinz body anemia	Criteria Provided Multiple Submitters No Conflicts	CA125601	rs_41417548	6 SubmittersRCV000016942 RCV000022606 RCV001811170 RCV002051787 RCV004595884 RCV005007858
NM_000517.6(HBA2):c.379G>A (p.Asp127Asn)	SNV Germline	Chr16:173550	Conflicting classifications of pathogenicity	HEMOGLOBIN TARRANT Condition: not provided alpha Thalassemia Erythrocytosis, familial, 7 Heinz body anemia Hemoglobin H disease not specified	Criteria Provided Conflicting Classifications	CA125612	rs_33933481	6 SubmittersRCV000016948 RCV001284150 RCV005016275 RCV004689422
NM_000517.6(HBA2):c.301-1G>A	SNV Germline	Chr16:173471	Likely pathogenic	HEMOGLOBIN CLINICO-MADRID Hemoglobin H disease, nondeletional alpha Thalassemia alpha Thalassemia Erythrocytosis, familial, 7 Heinz body anemia Hemoglobin H disease	Criteria Provided Single Submitter	CA125624	rs_587776827	3 SubmittersRCV000016954 RCV000022607 RCV001078244 RCV002496386
NM_000517.6(HBA2):c.200T>C (p.Leu67Pro)	SNV Germline	Chr16:173229	Pathogenic/Likely pathogenic	HEMOGLOBIN DARTMOUTH Condition: not provided alpha Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA125625	rs_41323248	3 SubmittersRCV000016955 RCV005229808 RCV004767010
NM_000517.6(HBA2):c.96G>Y (p.Arg32Ser)	SNV Germline	Chr16:173125	Pathogenic	Abnormal hemoglobin	No Assertion Criteria Provided		rs_111033606	1 SubmittersRCV000016967
NM_000517.6(HBA2):c.96-2A>G	SNV Germline	Chr16:173123	Pathogenic	Alpha-thalassemia, Dutch type Condition: not provided alpha Thalassemia Erythrocytosis, familial, 7 Heinz body anemia Hemoglobin H disease	Criteria Provided Multiple Submitters No Conflicts	CA125641	rs_41457746	5 SubmittersRCV000016968 RCV001572897 RCV002482879
NM_000517.6(HBA2):c.70G>T (p.Glu24Ter)	SNV Germline	Chr16:172982	Likely pathogenic	alpha Thalassemia Condition: not provided	Criteria Provided Single Submitter	CA281649	rs_281864819	3 SubmittersRCV000016976 RCV000985729
NM_000517.6(HBA2):c.69C>T (p.Gly23=)	SNV Germline	Chr16:172981	Likely pathogenic	Alpha-thalassemia, Dutch type Condition: not provided alpha Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA125652	rs_63751457	4 SubmittersRCV000016977 RCV000759057 RCV001275678
NM_000517.6(HBA2):c.178G>C (p.Gly60Arg)	SNV Germline	Chr16:173207	Likely pathogenic	HEMOGLOBIN ZURICH ALBISRIEDEN Alpha-thalassemia, Dutch type alpha Thalassemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA125654	rs_41328049	3 SubmittersRCV000016978 RCV000016979 RCV002051788 RCV003736541
NM_000517.6(HBA2):c.377T>G (p.Leu126Arg)	SNV Germline	Chr16:173548	Pathogenic/Likely pathogenic	HEMOGLOBIN PLASENCIA Condition: not provided alpha Thalassemia alpha Thalassemia Erythrocytosis, familial, 7 Heinz body anemia Hemoglobin H disease	Criteria Provided Multiple Submitters No Conflicts	CA125658	rs_41397847	5 SubmittersRCV000016981 RCV000985724 RCV001826473 RCV005007859
NM_000517.6(HBA2):c.*94A>G	SNV Germline	Chr16:173694	Pathogenic	alpha Thalassemia Condition: not provided alpha Thalassemia Hemoglobin H disease Heinz body anemia Erythrocytosis, familial, 7 Hemoglobin H disease beta Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA16602272	rs_63751269	9 SubmittersRCV000417217 RCV001800666 RCV002502453 RCV003989109 RCV004017607
NC_000016.10:g.172872C>G	SNV Germline	Chr16:172872	Conflicting classifications of pathogenicity	not specified	Criteria Provided Conflicting Classifications	CA620304232	rs_1188584832	2 SubmittersRCV000506304
NM_000517.6(HBA2):c.45G>C (p.Trp15Cys)	SNV Germline	Chr16:172957	Conflicting classifications of pathogenicity	Condition: not provided alpha Thalassemia	Criteria Provided Conflicting Classifications	CA276414368	rs_63750367	3 SubmittersRCV001810982 RCV001829444
NM_000517.6(HBA2):c.95+1G>A	SNV Germline	Chr16:173008	Pathogenic	not specified Condition: not provided alpha Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA393993203	rs_63750158	3 SubmittersRCV001000976 RCV000507864 RCV001829445
NM_000517.6(HBA2):c.179G>A (p.Gly60Asp)	SNV Germline	Chr16:173208	Pathogenic	Condition: not provided HEMOGLOBIN H HYDROPS FETALIS SYNDROME Non-immune hydrops fetalis alpha Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA276414731	rs_281864846	6 SubmittersRCV000507118 RCV001678588 RCV001376060 RCV003323574
NM_000517.6(HBA2):c.344C>T (p.Pro115Leu)	SNV Germline	Chr16:173515	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA276415389	rs_267607269	2 SubmittersRCV000508141 RCV005000052
NM_000517.6(HBA2):c.379G>T (p.Asp127Tyr)	SNV Germline	Chr16:173550	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA276415446	rs_33933481	1 SubmittersRCV000507294
NM_000517.6(HBA2):c.409C>A (p.Leu137Met)	SNV Germline	Chr16:173580	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA7770185	rs_41364652	3 SubmittersRCV000508426 RCV003235257
NM_000517.6(HBA2):c.*98T>C	SNV Germline	Chr16:173698	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA620304387	rs_1455865276	2 SubmittersRCV000506176 RCV001800718
NM_000517.6(HBA2):c.*103G>A	SNV Germline	Chr16:173703	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA620304389	rs_1363099908	2 SubmittersRCV000505980 RCV001800716
NM_000517.6(HBA2):c.300+64A>G	SNV Germline	Chr16:173393	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA276415168	rs_111264741	2 SubmittersRCV000759051
NM_000517.6(HBA2):c.75T>G (p.Tyr25Ter)	SNV Germline	Chr16:172987	Pathogenic/Likely pathogenic	alpha Thalassemia Condition: not provided Erythrocytosis, familial, 7 alpha Thalassemia Heinz body anemia Hemoglobin H disease	Criteria Provided Multiple Submitters No Conflicts	CA276414454	rs_281864550	5 SubmittersRCV001275679 RCV001800864 RCV005010753
NM_000517.6(HBA2):c.98T>G (p.Met33Arg)	SNV Germline	Chr16:173127	Conflicting classifications of pathogenicity	Condition: not provided not specified alpha Thalassemia	Criteria Provided Conflicting Classifications	CA393993229	rs_1468615416	3 SubmittersRCV000756228 RCV001000071 RCV003323709
NM_000517.6(HBA2):c.237C>A (p.Asn79Lys)	SNV Germline	Chr16:173266	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA393993701	rs_281860607	2 SubmittersRCV000756229
NM_000517.6(HBA2):c.226G>A (p.Asp76Asn)	SNV Germline	Chr16:173255	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA276414866	rs_281864858	3 SubmittersRCV000759785 RCV004689873
NM_000517.6(HBA2):c.95+39C>G	SNV Germline	Chr16:173046	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA620304244	rs_1025977498	2 SubmittersRCV000759061
NM_000517.6(HBA2):c.40G>C (p.Ala14Pro)	SNV Germline	Chr16:172952	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA276414354	rs_281860609	2 SubmittersRCV000985725
NM_000517.6(HBA2):c.64G>C (p.Ala22Pro)	SNV Germline	Chr16:172976	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA276414422	rs_281864817	2 SubmittersRCV000985728
NM_000517.6(HBA2):c.79G>A (p.Ala27Thr)	SNV Germline	Chr16:172991	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA276414463	rs_41467944	3 SubmittersRCV000985730 RCV003235439
NM_000517.6(HBA2):c.173G>A (p.Gly58Asp)	SNV Germline	Chr16:173202	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA276414722	rs_281864844	2 SubmittersRCV000985718
NM_000517.6(HBA2):c.358C>T (p.Pro120Ser)	SNV Germline	Chr16:173529	Pathogenic/Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA393994519	rs_1262943621	2 SubmittersRCV000985722
NM_000517.6(HBA2):c.313T>C (p.Cys105Arg)	SNV Germline	Chr16:173484	Pathogenic/Likely pathogenic	alpha Thalassemia Hemoglobin H disease Heinz body anemia alpha Thalassemia Erythrocytosis, familial, 7	Criteria Provided Multiple Submitters No Conflicts	CA393994398	rs_1263969213	3 SubmittersRCV000991152 RCV005021292
NM_000517.6(HBA2):c.99G>A (p.Met33Ile)	SNV Germline	Chr16:173128	Pathogenic	Condition: not provided HBA2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA276414541	rs_41515552	3 SubmittersRCV001811593 RCV003413793
NM_000517.6(HBA2):c.215C>A (p.Ala72Glu)	SNV Germline	Chr16:173244	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA276414830	rs_281864853	2 SubmittersRCV001811570
NM_000517.6(HBA2):c.377T>A (p.Leu126Gln)	SNV Germline	Chr16:173548	Pathogenic	alpha Thalassemia	No Assertion Criteria Provided	CA276415438	rs_41397847	1 SubmittersRCV001078247
NM_000517.6(HBA2):c.38C>A (p.Ala13Asp)	SNV Germline	Chr16:172950	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA276414349	rs_281864809	2 SubmittersRCV001284151
NM_000517.6(HBA2):c.83A>G (p.Glu28Gly)	SNV Germline	Chr16:172995	Conflicting classifications of pathogenicity	Condition: not provided alpha Thalassemia	Criteria Provided Conflicting Classifications	CA276414471	rs_281864823	3 SubmittersRCV001284484 RCV001830078
NM_000517.6(HBA2):c.106T>C (p.Ser36Pro)	SNV Germline	Chr16:173135	Likely pathogenic	Condition: not provided HEMOGLOBIN H HYDROPS FETALIS SYNDROME	Criteria Provided Single Submitter	CA276414554	rs_63750776	2 SubmittersRCV001284140 RCV001678591
NM_000517.6(HBA2):c.311A>G (p.His104Arg)	SNV Germline	Chr16:173482	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA276415287	rs_63750752	2 SubmittersRCV001284147 RCV005432648
NM_000517.6(HBA2):c.283G>A (p.Asp95Asn)	SNV Unknown	Chr16:173312	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA276415062	rs_281864878	1 SubmittersRCV001801058
NM_000517.6(HBA2):c.55G>C (p.Gly19Arg)	SNV Germline	Chr16:172967	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA276414398	rs_63750294	3 SubmittersRCV001801164 RCV003120692
NM_000517.6(HBA2):c.307A>C (p.Ser103Arg)	SNV Germline	Chr16:173478	Conflicting classifications of pathogenicity	Condition: not provided Heinz body anemia Erythrocytosis, familial, 7 alpha Thalassemia Hemoglobin H disease	Criteria Provided Conflicting Classifications	CA7770172	rs_41321052	3 SubmittersRCV001811709 RCV005006061
NM_000517.6(HBA2):c.163C>T (p.Gln55Ter)	SNV Germline	Chr16:173192	Pathogenic/Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7770113	rs_281864840	2 SubmittersRCV001811889
NM_000517.6(HBA2):c.283G>T (p.Asp95Tyr)	SNV Germline	Chr16:173312	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA276415071	rs_281864878	1 SubmittersRCV002227313
NM_000517.6(HBA2):c.349G>A (p.Glu117Lys)	SNV Germline	Chr16:173520	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA276415405	rs_33987053	2 SubmittersRCV002227314 RCV003388105
NM_000517.6(HBA2):c.46G>T (p.Gly16Cys)	SNV Unknown	Chr16:172958	Likely pathogenic	alpha Thalassemia	No Assertion Criteria Provided	CA393993044	rs_281864811	1 SubmittersRCV002243538
NM_000517.6(HBA2):c.300+8G>A	SNV Germline	Chr16:173337	Conflicting classifications of pathogenicity	Condition: not provided HBA2-related disorder	Criteria Provided Conflicting Classifications	CA7770129	rs_772453925	3 SubmittersRCV002481141 RCV003896208
NM_000517.6(HBA2):c.73T>G (p.Tyr25Asp)	SNV Germline	Chr16:172985	Likely pathogenic	alpha Thalassemia Condition: not provided	Criteria Provided Single Submitter	CA276414451	rs_281864821	2 SubmittersRCV003110192 RCV005230457
NM_000517.6(HBA2):c.130T>G (p.Phe44Val)	SNV Germline	Chr16:173159	Pathogenic	Condition: not provided Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA276414604	rs_281864829	2 SubmittersRCV003120105 RCV005240695
NM_000517.6(HBA2):c.273G>T (p.Lys91Asn)	SNV Germline	Chr16:173302	Conflicting classifications of pathogenicity	Condition: not provided HBA2-related disorder	Criteria Provided Conflicting Classifications	CA276415033	rs_281860615	3 SubmittersRCV003120191 RCV004756492
NM_000517.6(HBA2):c.300+1G>A	SNV Germline	Chr16:173330	Likely pathogenic	Condition: not provided alpha Thalassemia	Criteria Provided Single Submitter	CA393994321	rs_780091398	2 SubmittersRCV003120280 RCV003984350
NM_000517.6(HBA2):c.320T>G (p.Leu107Arg)	SNV Unknown	Chr16:173491	Pathogenic	alpha Thalassemia	No Assertion Criteria Provided	CA393994422	rs_2505431550	1 SubmittersRCV004548630
NM_000517.6(HBA2):c.421T>C (p.Tyr141His)	SNV Unknown	Chr16:173592	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA276415549	rs_55870409	1 SubmittersRCV003477259
NM_000517.6(HBA2):c.389T>C (p.Leu130Pro)	SNV Germline	Chr16:173560	Pathogenic	alpha Thalassemia	Criteria Provided Single Submitter	CA276415466	rs_281864889	1 SubmittersRCV003486522
NM_000517.6(HBA2):c.95+1G>C	SNV Germline	Chr16:173008	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA393993205	rs_63750158	1 SubmittersRCV003740504
NM_000517.6(HBA2):c.43T>C (p.Trp15Arg)	SNV Germline	Chr16:172955	Conflicting classifications of pathogenicity	Heinz body anemia alpha Thalassemia Hemoglobin H disease Erythrocytosis, familial, 7 not specified	Criteria Provided Conflicting Classifications	CA276414361	rs_281864810	2 SubmittersRCV005006350 RCV003988557
NM_000517.6(HBA2):c.2T>G (p.Met1Arg)	SNV Germline	Chr16:172914	Likely pathogenic	alpha Thalassemia	Criteria Provided Single Submitter	CA393992817	rs_111033603	1 SubmittersRCV004018237
NM_000517.6(HBA2):c.175C>T (p.His59Tyr)	SNV Germline	Chr16:173204	Pathogenic	HBA2-related disorder	No Assertion Criteria Provided			1 SubmittersRCV004730640
NM_000517.6(HBA2):c.428A>T (p.Ter143Leu)	SNV Germline	Chr16:173599	Pathogenic	alpha Thalassemia	Criteria Provided Single Submitter			1 SubmittersRCV004800237
NM_000517.6(HBA2):c.98T>C (p.Met33Thr)	SNV Germline	Chr16:173127	Likely pathogenic	Erythrocytosis, familial, 7 Hemoglobin H disease Heinz body anemia alpha Thalassemia alpha Thalassemia	Criteria Provided Single Submitter			2 SubmittersRCV005007581 RCV005618411
NM_000517.6(HBA2):c.226G>C (p.Asp76His)	SNV Germline	Chr16:173255	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV004997902
NM_000517.6(HBA2):c.337C>A (p.His113Asn)	SNV Germline	Chr16:173508	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV004997904
NM_000517.6(HBA2):c.242T>C (p.Leu81Pro)	SNV Germline	Chr16:173271	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005234210
NM_000517.6(HBA2):c.275T>C (p.Leu92Pro)	SNV Germline	Chr16:173304	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005234482
NM_000517.6(HBA2):c.373T>C (p.Ser125Pro)	SNV Germline	Chr16:173544	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005234769

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

SNV
Germline

Chr16:173598

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125550

rs_41464951

6 SubmittersRCV000016893 RCV000022603 RCV000985726 RCV004017255 RCV002250461

NM_000517.6(HBA2):c.428A>C (p.Ter143Ser)

SNV
Germline

Chr16:173599

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125552

rs_41321345

6 SubmittersRCV000016894 RCV000759055 RCV005007856 RCV004546413

NM_000517.6(HBA2):c.266C>T (p.Ala89Val)

SNV
Germline

Chr16:173295

Pathogenic; other

HEMOGLOBIN COLUMBIA MISSOURI
Erythrocytosis, familial, 7

No Assertion Criteria Provided

CA125554

rs_33983416

1 SubmittersRCV000016895 RCV000641309

NM_000517.6(HBA2):c.377T>C (p.Leu126Pro)

SNV
Germline

Chr16:173548

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125557

rs_41397847

7 SubmittersRCV000016897 RCV000417220 RCV001811168 RCV002476982

NM_000517.6(HBA2):c.329T>G (p.Leu110Arg)

SNV
Germline

Chr16:173500

Pathogenic; other

HEMOGLOBIN SUAN-DOK
alpha Thalassemia

No Assertion Criteria Provided

CA125561

rs_41479844

2 SubmittersRCV000016899 RCV001078246

NM_000517.6(HBA2):c.186G>C (p.Lys62Asn)

SNV
Germline

Chr16:173215

Pathogenic; other

HEMOGLOBIN J (BUDA)
Erythrocytosis, familial, 7

No Assertion Criteria Provided

CA125563

rs_33985574

1 SubmittersRCV000016900 RCV000641281

NM_000517.4(HBA2):c.49A>G (p.Lys17Glu)

SNV
Germline

Chr16:172961

Conflicting classifications of pathogenicity

HEMOGLOBIN I
HEMOGLOBIN I (BURLINGTON)
HEMOGLOBIN I (PHILADELPHIA)
HEMOGLOBIN I (SKAMANIA)
HEMOGLOBIN I (TEXAS)
Condition: not provided

Criteria Provided
Conflicting Classifications

CA125567

rs_281865555

3 SubmittersRCV000016905 RCV000016906 RCV000016907 RCV000016908 RCV000016909 RCV000985727

NM_000517.4(HBA2):c.142G>C (p.Asp48His)

SNV
Germline

Chr16:173171

Pathogenic/Likely pathogenic

HEMOGLOBIN HASHARON
HEMOGLOBIN SEALY
HEMOGLOBIN L (FERRARA)
HEMOGLOBIN SINAI
Condition: not provided
alpha Thalassemia
alpha Thalassemia
Erythrocytosis, familial, 7
Heinz body anemia
Hemoglobin H disease

Criteria Provided
Multiple Submitters
No Conflicts

CA125569

rs_281864834

7 SubmittersRCV000016911 RCV000016913 RCV000016910 RCV000016912 RCV001544589 RCV001275680 RCV005016273

NM_000517.6(HBA2):c.257A>T (p.Asp86Val)

SNV
Germline

Chr16:173286

Conflicting classifications of pathogenicity

HEMOGLOBIN INKSTER
Erythrocytosis, familial, 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA125574

rs_41331747

3 SubmittersRCV000016925 RCV000641307 RCV001284143

NM_000517.6(HBA2):c.391G>C (p.Ala131Pro)

SNV
Germline

Chr16:173562

Conflicting classifications of pathogenicity

HEMOGLOBIN SUN PRAIRIE
Condition: not provided
not specified
alpha Thalassemia
Erythrocytosis, familial, 7
Heinz body anemia
Hemoglobin H disease

Criteria Provided
Conflicting Classifications

CA125576

rs_41529844

6 SubmittersRCV000016926 RCV000759053 RCV003234911 RCV005007857

NM_000517.6(HBA2):c.2T>C (p.Met1Thr)

SNV
Germline

Chr16:172914

Pathogenic

alpha Thalassemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA281645

rs_111033603

5 SubmittersRCV000016929 RCV003654177

NM_000517.6(HBA2):c.349G>T (p.Glu117Ter)

SNV
Germline

Chr16:173520

Pathogenic

alpha Thalassemia

No Assertion Criteria Provided

CA281647

rs_33987053

1 SubmittersRCV000016930

NM_000517.6(HBA2):c.1A>G (p.Met1Val)

SNV
Germline

Chr16:172913

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125582

rs_121909803

4 SubmittersRCV000016931 RCV001078242 RCV001284141 RCV005016274

NM_000517.6(HBA2):c.418A>G (p.Lys140Glu)

SNV
Germline

Chr16:173589

Pathogenic; other

HEMOGLOBIN HANAMAKI
Erythrocytosis, familial, 7

No Assertion Criteria Provided

CA125584

rs_41361546

1 SubmittersRCV000016932 RCV000641316

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

SNV
Germline

Chr16:173692

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125586

rs_63750067

8 SubmittersRCV000016933 RCV000022604 RCV000507591 RCV002476983 RCV004017256 RCV001831575 RCV003989291

NM_000517.6(HBA2):c.89T>C (p.Leu30Pro)

SNV
Germline

Chr16:173001

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125593

rs_41341344

4 SubmittersRCV000016937 RCV000022605 RCV000759059 RCV004700242

NM_000517.4(HBA2):c.429A>T (p.Ter143Tyr)

SNV
Germline

Chr16:173600

Pathogenic

Hemoglobin H disease, nondeletional
Condition: not provided
alpha Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA125595

rs_41412046

5 SubmittersRCV000016938 RCV000508511 RCV001831576

NM_000517.4(HBA2):c.427T>G (p.Ter143Glu)

SNV
Germline

Chr16:173598

Pathogenic/Likely pathogenic

HEMOGLOBIN SEAL ROCK
Condition: not provided
alpha Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA125597

rs_41464951

5 SubmittersRCV000016939 RCV000759054 RCV001275682

NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr)

SNV
Germline

Chr16:173485

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125601

rs_41417548

6 SubmittersRCV000016942 RCV000022606 RCV001811170 RCV002051787 RCV004595884 RCV005007858

NM_000517.6(HBA2):c.379G>A (p.Asp127Asn)

SNV
Germline

Chr16:173550

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA125612

rs_33933481

6 SubmittersRCV000016948 RCV001284150 RCV005016275 RCV004689422

NM_000517.6(HBA2):c.301-1G>A

SNV
Germline

Chr16:173471

Likely pathogenic

HEMOGLOBIN CLINICO-MADRID
Hemoglobin H disease, nondeletional
alpha Thalassemia
alpha Thalassemia
Erythrocytosis, familial, 7
Heinz body anemia
Hemoglobin H disease

Criteria Provided
Single Submitter

CA125624

rs_587776827

3 SubmittersRCV000016954 RCV000022607 RCV001078244 RCV002496386

NM_000517.6(HBA2):c.200T>C (p.Leu67Pro)

SNV
Germline

Chr16:173229

Pathogenic/Likely pathogenic

HEMOGLOBIN DARTMOUTH
Condition: not provided
alpha Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA125625

rs_41323248

3 SubmittersRCV000016955 RCV005229808 RCV004767010

NM_000517.6(HBA2):c.96G>Y (p.Arg32Ser)

SNV
Germline

Chr16:173125

Pathogenic

Abnormal hemoglobin

No Assertion Criteria Provided

rs_111033606

1 SubmittersRCV000016967

NM_000517.6(HBA2):c.96-2A>G

SNV
Germline

Chr16:173123

Pathogenic

Alpha-thalassemia, Dutch type
Condition: not provided
alpha Thalassemia
Erythrocytosis, familial, 7
Heinz body anemia
Hemoglobin H disease

Criteria Provided
Multiple Submitters
No Conflicts

CA125641

rs_41457746

5 SubmittersRCV000016968 RCV001572897 RCV002482879

NM_000517.6(HBA2):c.70G>T (p.Glu24Ter)

SNV
Germline

Chr16:172982

Likely pathogenic

alpha Thalassemia
Condition: not provided

Criteria Provided
Single Submitter

CA281649

rs_281864819

3 SubmittersRCV000016976 RCV000985729

NM_000517.6(HBA2):c.69C>T (p.Gly23=)

SNV
Germline

Chr16:172981

Likely pathogenic

Alpha-thalassemia, Dutch type
Condition: not provided
alpha Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA125652

rs_63751457

4 SubmittersRCV000016977 RCV000759057 RCV001275678

NM_000517.6(HBA2):c.178G>C (p.Gly60Arg)

SNV
Germline

Chr16:173207

Likely pathogenic

HEMOGLOBIN ZURICH ALBISRIEDEN
Alpha-thalassemia, Dutch type
alpha Thalassemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA125654

rs_41328049

3 SubmittersRCV000016978 RCV000016979 RCV002051788 RCV003736541

NM_000517.6(HBA2):c.377T>G (p.Leu126Arg)

SNV
Germline

Chr16:173548

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125658

rs_41397847

5 SubmittersRCV000016981 RCV000985724 RCV001826473 RCV005007859

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

SNV
Germline

Chr16:173694

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16602272

rs_63751269

9 SubmittersRCV000417217 RCV001800666 RCV002502453 RCV003989109 RCV004017607

NC_000016.10:g.172872C>G

SNV
Germline

Chr16:172872

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA620304232

rs_1188584832

2 SubmittersRCV000506304

NM_000517.6(HBA2):c.45G>C (p.Trp15Cys)

SNV
Germline

Chr16:172957

Conflicting classifications of pathogenicity

Condition: not provided
alpha Thalassemia

Criteria Provided
Conflicting Classifications

CA276414368

rs_63750367

3 SubmittersRCV001810982 RCV001829444

NM_000517.6(HBA2):c.95+1G>A

SNV
Germline

Chr16:173008

Pathogenic

not specified
Condition: not provided
alpha Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA393993203

rs_63750158

3 SubmittersRCV001000976 RCV000507864 RCV001829445

NM_000517.6(HBA2):c.179G>A (p.Gly60Asp)

SNV
Germline

Chr16:173208

Pathogenic

Condition: not provided
HEMOGLOBIN H HYDROPS FETALIS SYNDROME
Non-immune hydrops fetalis
alpha Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA276414731

rs_281864846

6 SubmittersRCV000507118 RCV001678588 RCV001376060 RCV003323574

NM_000517.6(HBA2):c.344C>T (p.Pro115Leu)

SNV
Germline

Chr16:173515

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA276415389

rs_267607269

2 SubmittersRCV000508141 RCV005000052

NM_000517.6(HBA2):c.379G>T (p.Asp127Tyr)

SNV
Germline

Chr16:173550

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA276415446

rs_33933481

1 SubmittersRCV000507294

NM_000517.6(HBA2):c.409C>A (p.Leu137Met)

SNV
Germline

Chr16:173580

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7770185

rs_41364652

3 SubmittersRCV000508426 RCV003235257

NM_000517.6(HBA2):c.*98T>C

SNV
Germline

Chr16:173698

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA620304387

rs_1455865276

2 SubmittersRCV000506176 RCV001800718

NM_000517.6(HBA2):c.*103G>A

SNV
Germline

Chr16:173703

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA620304389

rs_1363099908

2 SubmittersRCV000505980 RCV001800716

NM_000517.6(HBA2):c.300+64A>G

SNV
Germline

Chr16:173393

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA276415168

rs_111264741

2 SubmittersRCV000759051

NM_000517.6(HBA2):c.75T>G (p.Tyr25Ter)

SNV
Germline

Chr16:172987

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA276414454

rs_281864550

5 SubmittersRCV001275679 RCV001800864 RCV005010753

NM_000517.6(HBA2):c.98T>G (p.Met33Arg)

SNV
Germline

Chr16:173127

Conflicting classifications of pathogenicity

Condition: not provided
not specified
alpha Thalassemia

Criteria Provided
Conflicting Classifications

CA393993229

rs_1468615416

3 SubmittersRCV000756228 RCV001000071 RCV003323709

NM_000517.6(HBA2):c.237C>A (p.Asn79Lys)

SNV
Germline

Chr16:173266

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA393993701

rs_281860607

2 SubmittersRCV000756229

NM_000517.6(HBA2):c.226G>A (p.Asp76Asn)

SNV
Germline

Chr16:173255

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA276414866

rs_281864858

3 SubmittersRCV000759785 RCV004689873

NM_000517.6(HBA2):c.95+39C>G

SNV
Germline

Chr16:173046

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA620304244

rs_1025977498

2 SubmittersRCV000759061

NM_000517.6(HBA2):c.40G>C (p.Ala14Pro)

SNV
Germline

Chr16:172952

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA276414354

rs_281860609

2 SubmittersRCV000985725

NM_000517.6(HBA2):c.64G>C (p.Ala22Pro)

SNV
Germline

Chr16:172976

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA276414422

rs_281864817

2 SubmittersRCV000985728

NM_000517.6(HBA2):c.79G>A (p.Ala27Thr)

SNV
Germline

Chr16:172991

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA276414463

rs_41467944

3 SubmittersRCV000985730 RCV003235439

NM_000517.6(HBA2):c.173G>A (p.Gly58Asp)

SNV
Germline

Chr16:173202

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA276414722

rs_281864844

2 SubmittersRCV000985718

NM_000517.6(HBA2):c.358C>T (p.Pro120Ser)

SNV
Germline

Chr16:173529

Pathogenic/Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA393994519

rs_1262943621

2 SubmittersRCV000985722

NM_000517.6(HBA2):c.313T>C (p.Cys105Arg)

SNV
Germline

Chr16:173484

Pathogenic/Likely pathogenic

alpha Thalassemia
Hemoglobin H disease
Heinz body anemia
alpha Thalassemia
Erythrocytosis, familial, 7

Criteria Provided
Multiple Submitters
No Conflicts

CA393994398

rs_1263969213

3 SubmittersRCV000991152 RCV005021292

NM_000517.6(HBA2):c.99G>A (p.Met33Ile)

SNV
Germline

Chr16:173128

Pathogenic

Condition: not provided
HBA2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA276414541

rs_41515552

3 SubmittersRCV001811593 RCV003413793

NM_000517.6(HBA2):c.215C>A (p.Ala72Glu)

SNV
Germline

Chr16:173244

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA276414830

rs_281864853

2 SubmittersRCV001811570

NM_000517.6(HBA2):c.377T>A (p.Leu126Gln)

SNV
Germline

Chr16:173548

Pathogenic

alpha Thalassemia

No Assertion Criteria Provided

CA276415438

rs_41397847

1 SubmittersRCV001078247

NM_000517.6(HBA2):c.38C>A (p.Ala13Asp)

SNV
Germline

Chr16:172950

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA276414349

rs_281864809

2 SubmittersRCV001284151

NM_000517.6(HBA2):c.83A>G (p.Glu28Gly)

SNV
Germline

Chr16:172995

Conflicting classifications of pathogenicity

Condition: not provided
alpha Thalassemia

Criteria Provided
Conflicting Classifications

CA276414471

rs_281864823

3 SubmittersRCV001284484 RCV001830078

NM_000517.6(HBA2):c.106T>C (p.Ser36Pro)

SNV
Germline

Chr16:173135

Likely pathogenic

Condition: not provided
HEMOGLOBIN H HYDROPS FETALIS SYNDROME

Criteria Provided
Single Submitter

CA276414554

rs_63750776

2 SubmittersRCV001284140 RCV001678591

NM_000517.6(HBA2):c.311A>G (p.His104Arg)

SNV
Germline

Chr16:173482

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA276415287

rs_63750752

2 SubmittersRCV001284147 RCV005432648

NM_000517.6(HBA2):c.283G>A (p.Asp95Asn)

SNV
Unknown

Chr16:173312

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA276415062

rs_281864878

1 SubmittersRCV001801058

NM_000517.6(HBA2):c.55G>C (p.Gly19Arg)

SNV
Germline

Chr16:172967

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA276414398

rs_63750294

3 SubmittersRCV001801164 RCV003120692

NM_000517.6(HBA2):c.307A>C (p.Ser103Arg)

SNV
Germline

Chr16:173478

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7770172

rs_41321052

3 SubmittersRCV001811709 RCV005006061

NM_000517.6(HBA2):c.163C>T (p.Gln55Ter)

SNV
Germline

Chr16:173192

Pathogenic/Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7770113

rs_281864840

2 SubmittersRCV001811889

NM_000517.6(HBA2):c.283G>T (p.Asp95Tyr)

SNV
Germline

Chr16:173312

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA276415071

rs_281864878

1 SubmittersRCV002227313

NM_000517.6(HBA2):c.349G>A (p.Glu117Lys)

SNV
Germline

Chr16:173520

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA276415405

rs_33987053

2 SubmittersRCV002227314 RCV003388105

NM_000517.6(HBA2):c.46G>T (p.Gly16Cys)

SNV
Unknown

Chr16:172958

Likely pathogenic

alpha Thalassemia

No Assertion Criteria Provided

CA393993044

rs_281864811

1 SubmittersRCV002243538

NM_000517.6(HBA2):c.300+8G>A

SNV
Germline

Chr16:173337

Conflicting classifications of pathogenicity

Condition: not provided
HBA2-related disorder

Criteria Provided
Conflicting Classifications

CA7770129

rs_772453925

3 SubmittersRCV002481141 RCV003896208

NM_000517.6(HBA2):c.73T>G (p.Tyr25Asp)

SNV
Germline

Chr16:172985

Likely pathogenic

alpha Thalassemia
Condition: not provided

Criteria Provided
Single Submitter

CA276414451

rs_281864821

2 SubmittersRCV003110192 RCV005230457

NM_000517.6(HBA2):c.130T>G (p.Phe44Val)

SNV
Germline

Chr16:173159

Pathogenic

Condition: not provided
Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA276414604

rs_281864829

2 SubmittersRCV003120105 RCV005240695

NM_000517.6(HBA2):c.273G>T (p.Lys91Asn)

SNV
Germline

Chr16:173302

Conflicting classifications of pathogenicity

Condition: not provided
HBA2-related disorder

Criteria Provided
Conflicting Classifications

CA276415033

rs_281860615

3 SubmittersRCV003120191 RCV004756492

NM_000517.6(HBA2):c.300+1G>A

SNV
Germline

Chr16:173330

Likely pathogenic

Condition: not provided
alpha Thalassemia

Criteria Provided
Single Submitter

CA393994321

rs_780091398

2 SubmittersRCV003120280 RCV003984350

NM_000517.6(HBA2):c.320T>G (p.Leu107Arg)

SNV
Unknown

Chr16:173491

Pathogenic

alpha Thalassemia

No Assertion Criteria Provided

CA393994422

rs_2505431550

1 SubmittersRCV004548630

NM_000517.6(HBA2):c.421T>C (p.Tyr141His)

SNV
Unknown

Chr16:173592

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA276415549

rs_55870409

1 SubmittersRCV003477259

NM_000517.6(HBA2):c.389T>C (p.Leu130Pro)

SNV
Germline

Chr16:173560

Pathogenic

alpha Thalassemia

Criteria Provided
Single Submitter

CA276415466

rs_281864889

1 SubmittersRCV003486522

NM_000517.6(HBA2):c.95+1G>C

SNV
Germline

Chr16:173008

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA393993205

rs_63750158

1 SubmittersRCV003740504

NM_000517.6(HBA2):c.43T>C (p.Trp15Arg)

SNV
Germline

Chr16:172955

Conflicting classifications of pathogenicity

Heinz body anemia
alpha Thalassemia
Hemoglobin H disease
Erythrocytosis, familial, 7
not specified

Criteria Provided
Conflicting Classifications

CA276414361

rs_281864810

2 SubmittersRCV005006350 RCV003988557

NM_000517.6(HBA2):c.2T>G (p.Met1Arg)

SNV
Germline

Chr16:172914

Likely pathogenic

alpha Thalassemia

Criteria Provided
Single Submitter

CA393992817

rs_111033603

1 SubmittersRCV004018237

NM_000517.6(HBA2):c.175C>T (p.His59Tyr)

SNV
Germline

Chr16:173204

Pathogenic

HBA2-related disorder

No Assertion Criteria Provided

1 SubmittersRCV004730640

NM_000517.6(HBA2):c.428A>T (p.Ter143Leu)

SNV
Germline

Chr16:173599

Pathogenic

alpha Thalassemia

Criteria Provided
Single Submitter

1 SubmittersRCV004800237

NM_000517.6(HBA2):c.98T>C (p.Met33Thr)

SNV
Germline

Chr16:173127

Likely pathogenic

Erythrocytosis, familial, 7
Hemoglobin H disease
Heinz body anemia
alpha Thalassemia
alpha Thalassemia

Criteria Provided
Single Submitter

2 SubmittersRCV005007581 RCV005618411

NM_000517.6(HBA2):c.226G>C (p.Asp76His)

SNV
Germline

Chr16:173255

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004997902

NM_000517.6(HBA2):c.337C>A (p.His113Asn)

SNV
Germline

Chr16:173508

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004997904

NM_000517.6(HBA2):c.242T>C (p.Leu81Pro)

SNV
Germline

Chr16:173271

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005234210

NM_000517.6(HBA2):c.275T>C (p.Leu92Pro)

SNV
Germline

Chr16:173304

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005234482

NM_000517.6(HBA2):c.373T>C (p.Ser125Pro)

SNV
Germline

Chr16:173544

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005234769