Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000037.4(ANK1):c.5005G>T (p.Glu1669Ter)	SNV Germline	Chr8:41672445	Pathogenic	Hereditary spherocytosis type 1	No Assertion Criteria Provided	CA114336	rs_137852829	1 SubmittersRCV000000535
NG_012820.2(ANK1):g.104117T>C	SNV Germline	Chr8:41797646	Conflicting classifications of pathogenicity	SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE Hereditary spherocytosis type 1 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA212744	rs_77173848	6 SubmittersRCV000000536 RCV000988052 RCV001777127 RCV003482222
NM_000037.4(ANK1):c.5163G>A (p.Trp1721Ter)	SNV Germline	Chr8:41668498	Pathogenic	Hereditary spherocytosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA114339	rs_137852830	3 SubmittersRCV000000538 RCV004791185
NM_000037.4(ANK1):c.5497C>T (p.Arg1833Ter)	SNV Germline	Chr8:41661923	Pathogenic/Likely pathogenic	Hereditary spherocytosis type 1 Condition: not provided ANK1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA114342	rs_137852831	7 SubmittersRCV000000539 RCV001508610 RCV003398399
NM_000037.4(ANK1):c.1801-17G>A	SNV Germline	Chr8:41708992	Pathogenic/Likely pathogenic	SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE Hereditary spherocytosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA212747	rs_786205243	7 SubmittersRCV000000542 RCV000655898 RCV001091597
NM_001355436.2(SPTB):c.604T>C (p.Trp202Arg)	SNV Germline	Chr14:64801797	Pathogenic	Hereditary spherocytosis type 2	No Assertion Criteria Provided	CA122736	rs_121918646	1 SubmittersRCV000013684
NM_001355436.2(SPTB):c.6055T>C (p.Ser2019Pro)	SNV Germline	Chr14:64767827	Pathogenic/Likely pathogenic	Elliptocytosis 3 Hereditary spherocytosis type 2 Condition: not provided SPTB-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA122740	rs_121918648	5 SubmittersRCV000013688 RCV001004906 RCV002513020 RCV004724739
NM_001355436.2(SPTB):c.6074T>G (p.Leu2025Arg)	SNV Germline	Chr14:64767808	Conflicting classifications of pathogenicity	ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL Hereditary spherocytosis type 2 Condition: not provided SPTB-related disorder	Criteria Provided Conflicting Classifications	CA122743	rs_121918649	4 SubmittersRCV000013691 RCV001004904 RCV003129752 RCV004745156
NM_001355436.2(SPTB):c.1A>G (p.Met1Val)	SNV Germline	Chr14:64823094	Pathogenic/Likely pathogenic	Hereditary spherocytosis type 2 not specified Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA210952	rs_121918651	4 SubmittersRCV000013693 RCV001000731 RCV001781258
NM_001355436.2(SPTB):c.5266C>T (p.Arg1756Ter)	SNV Germline	Chr14:64772867	Pathogenic	Hereditary spherocytosis type 2 Condition: not provided Elliptocytosis 3 Hereditary spherocytosis type 2	Criteria Provided Multiple Submitters No Conflicts	CA210954	rs_267607086	9 SubmittersRCV000013696 RCV001508363 RCV005007841
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu)	SNV Germline	Chr1:158662793	Conflicting classifications of pathogenicity	Elliptocytosis 2 Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Condition: not provided Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Elliptocytosis 2 not specified	Criteria Provided Conflicting Classifications	CA122762	rs_7418956	7 SubmittersRCV000013717 RCV000345657 RCV000404574 RCV001508911 RCV005394149 RCV004017236
NM_003126.2(SPTA1):c.5190_5310del	SNV Germline	Chr1:158636763	Pathogenic	Hereditary spherocytosis type 3	No Assertion Criteria Provided	CA358598	rs_754614154	1 SubmittersRCV000013723
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr)	SNV Germline	Chr15:43215191	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 5 EPB42-related disorder	Criteria Provided Conflicting Classifications	CA341253	rs_104894487	4 SubmittersRCV000014138 RCV003415697
NM_000119.2(EPB42):c.929G>A (p.Arg310Gln)	SNV Germline	Chr15:43208769	Likely pathogenic	Hereditary spherocytosis type 5	Criteria Provided Single Submitter	CA341255	rs_121917734	3 SubmittersRCV000014140
NM_000119.2(EPB42):c.922+1G>A	SNV Germline	Chr15:43209273	Pathogenic	Hereditary spherocytosis type 5	No Assertion Criteria Provided	CA256740	rs_266257355	1 SubmittersRCV000014141
NM_000119.2(EPB42):c.1747G>T (p.Glu583Ter)	SNV Germline	Chr15:43203237	Pathogenic	Hereditary spherocytosis type 5	No Assertion Criteria Provided	CA256741	rs_115998465	1 SubmittersRCV000014142
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg)	SNV Germline	Chr17:44258520	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA127374	rs_28931583	6 SubmittersRCV000019332 RCV001811190
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys)	SNV Germline	Chr17:44261625	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 4 Hemolytic anemia Cryohydrocytosis Condition: not provided Autosomal dominant distal renal tubular acidosis Distal renal tubular acidosis SLC4A1-related disorder	Criteria Provided Conflicting Classifications	CA127375	rs_45562031	13 SubmittersRCV000019333 RCV000298897 RCV000494697 RCV000512811 RCV001127848 RCV003993746 RCV004549379
NM_000342.4(SLC4A1):c.1972G>A (p.Glu658Lys)	SNV Germline	Chr17:44254581	Conflicting classifications of pathogenicity	Autosomal dominant distal renal tubular acidosis Hemolytic anemia Condition: not provided Hereditary spherocytosis type 4 BLOOD GROUP--WRIGHT ANTIGEN 11 conditions not specified	Criteria Provided Conflicting Classifications	CA127380	rs_75731670	6 SubmittersRCV001125390 RCV001125391 RCV001201773 RCV001125389 RCV000019336 RCV005007878 RCV005406750
NM_000342.3(SLC4A1):c.2312G>A (p.Gly771Asp)	SNV Germline	Chr17:44251588	Pathogenic	Hereditary spherocytosis type 4	No Assertion Criteria Provided	CA127382	rs_121912741	1 SubmittersRCV000019337
NM_000342.3(SLC4A1):c.988C>T (p.Gln330Ter)	SNV Germline	Chr17:44258512	Pathogenic	Hereditary spherocytosis type 4	No Assertion Criteria Provided	CA127383	rs_121912742	1 SubmittersRCV000019338
NM_000342.3(SLC4A1):c.448C>T (p.Arg150Ter)	SNV Germline	Chr17:44260441	Pathogenic	Hereditary spherocytosis type 4 11 conditions Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA127385	rs_56361140	6 SubmittersRCV000019339 RCV005007879 RCV002514115
NM_000342.3(SLC4A1):c.388G>A (p.Gly130Arg)	SNV Germline	Chr17:44260501	Conflicting classifications of pathogenicity	Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 11 conditions Condition: not provided	Criteria Provided Conflicting Classifications	CA127394	rs_121912749	4 SubmittersRCV001121978 RCV000019346 RCV005007881 RCV003546457
NM_000342.3(SLC4A1):c.2509A>G (p.Thr837Ala)	SNV Germline	Chr17:44251305	Pathogenic	Hereditary spherocytosis type 4	No Assertion Criteria Provided	CA127395	rs_121912750	1 SubmittersRCV000019347
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met)	SNV Germline	Chr17:44257514	Pathogenic/Likely pathogenic	Renal tubular acidosis, distal, 4, with hemolytic anemia Condition: not provided Hereditary spherocytosis type 4 11 conditions	Criteria Provided Multiple Submitters No Conflicts	CA127399	rs_28931584	8 SubmittersRCV001254881 RCV001851941 RCV000019350 RCV002496417
NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp)	SNV Germline	Chr17:44251206	Pathogenic/Likely pathogenic	Hereditary spherocytosis type 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA127403	rs_28931585	6 SubmittersRCV000019354 RCV001093444
NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln)	SNV Germline	Chr17:44253150	Pathogenic/Likely pathogenic	Condition: not provided Hereditary spherocytosis type 4 11 conditions	Criteria Provided Multiple Submitters No Conflicts	CA210834	rs_121912755	6 SubmittersRCV002227042 RCV000019358 RCV005007883
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln)	SNV Germline	Chr17:44254616	Conflicting classifications of pathogenicity	not specified Hereditary spherocytosis type 4 Autosomal dominant distal renal tubular acidosis Hemolytic anemia Condition: not provided SWANN BLOOD GROUP ANTIGEN	Criteria Provided Conflicting Classifications	CA127408	rs_121912757	6 SubmittersRCV001001070 RCV001127476 RCV001127475 RCV001127477 RCV001507896 RCV000019360
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu)	SNV Germline	Chr17:44251211	Conflicting classifications of pathogenicity	Acanthocytosis due to band 3 HT Acanthocytosis Hemolytic anemia Hereditary spherocytosis type 4 Autosomal dominant distal renal tubular acidosis Condition: not provided not specified SLC4A1-related disorder	Criteria Provided Conflicting Classifications	CA127410	rs_121912759	9 SubmittersRCV000019361 RCV000991183 RCV001126941 RCV001124275 RCV001126942 RCV002054448 RCV002247370 RCV004549382
NM_000342.4(SLC4A1):c.2701C>T (p.Arg901Trp)	SNV Germline	Chr17:44250493	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 4 Hemolytic anemia Autosomal dominant distal renal tubular acidosis	Criteria Provided Conflicting Classifications	CA216108	rs_201265160	6 SubmittersRCV000054610 RCV000306677 RCV000391446 RCV000346002
NM_001114134.2(EPB42):c.433G>T (p.Asp145Tyr)	SNV Germline	Chr15:43211532	Pathogenic	Hereditary spherocytosis type 5	Criteria Provided Single Submitter	CA345651	rs_143682977	2 SubmittersRCV000119050
NM_001114134.2(EPB42):c.859C>T (p.Arg287Cys)	SNV Germline	Chr15:43208749	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 5 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA345655	rs_515726212	4 SubmittersRCV000119052 RCV001508386 RCV003488394
NM_001114134.2(EPB42):c.1609G>A (p.Ala537Thr)	SNV Germline	Chr15:43206339	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA345658	rs_45495503	4 SubmittersRCV000258852 RCV001508383
NM_001355436.2(SPTB):c.1795+1G>A	SNV Germline	Chr14:64794466	Pathogenic	Hereditary spherocytosis type 2 Condition: not provided	Criteria Provided Single Submitter	CA211130	rs_786204766	2 SubmittersRCV000169630 RCV001781529
NM_001355436.2(SPTB):c.5455G>T (p.Glu1819Ter)	SNV Germline	Chr14:64772678	Likely pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter	CA7229963	rs_200386310	1 SubmittersRCV000490389
NM_000037.4(ANK1):c.2495G>A (p.Arg832Gln)	SNV Germline	Chr8:41699515	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 1 Spherocytosis	Criteria Provided Conflicting Classifications	CA4728201	rs_34523608	4 SubmittersRCV000224849 RCV000385550 RCV001165099
NM_003126.4(SPTA1):c.6531-12C>T	SNV Germline	Chr1:158618068	Conflicting classifications of pathogenicity	not specified Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Elliptocytosis 2 Condition: not provided Hemolytic anemia	Criteria Provided Conflicting Classifications	CA1181949	rs_28525570	8 SubmittersRCV000249337 RCV000296410 RCV000344309 RCV000388225 RCV001610635 RCV001003793
NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg)	SNV Germline	Chr1:158619315	Conflicting classifications of pathogenicity	not specified Elliptocytosis 2 Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Condition: not provided	Criteria Provided Conflicting Classifications	CA1181979	rs_138055271	6 SubmittersRCV000244790 RCV000395816 RCV000302916 RCV000359954 RCV000756690
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val)	SNV Germline	Chr1:158627717	Conflicting classifications of pathogenicity	not specified Elliptocytosis 2 Hemolytic anemia Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Condition: not provided Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Elliptocytosis 2	Criteria Provided Conflicting Classifications	CA1182251	rs_3737515	12 SubmittersRCV000247499 RCV000304497 RCV001003794 RCV000361633 RCV000395775 RCV001731550 RCV005396851
NM_003126.4(SPTA1):c.5118C>T (p.His1706=)	SNV Germline	Chr1:158638104	Conflicting classifications of pathogenicity	not specified Pyropoikilocytosis, hereditary Elliptocytosis 2 Hereditary spherocytosis type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA1182421	rs_200945419	4 SubmittersRCV000242204 RCV000285325 RCV000315881 RCV000379676 RCV002058133
NM_003126.4(SPTA1):c.4490G>A (p.Gly1497Glu)	SNV Germline	Chr1:158642929	Conflicting classifications of pathogenicity	not specified Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Elliptocytosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1182673	rs_41273523	7 SubmittersRCV000251009 RCV000303619 RCV000397152 RCV000358604 RCV001507482
NM_003126.4(SPTA1):c.4453C>T (p.Leu1485Phe)	SNV Germline	Chr1:158642966	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 not specified Pyropoikilocytosis, hereditary Elliptocytosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1182681	rs_34973695	5 SubmittersRCV000328386 RCV000254479 RCV000273231 RCV000364331 RCV000755398
NM_003126.4(SPTA1):c.3960C>T (p.Asp1320=)	SNV Germline	Chr1:158645531	Conflicting classifications of pathogenicity	not specified Pyropoikilocytosis, hereditary Condition: not provided Hereditary spherocytosis type 3 Elliptocytosis 2	Criteria Provided Conflicting Classifications	CA1182879	rs_186415745	4 SubmittersRCV000244199 RCV001099281 RCV000891236 RCV001097517 RCV001099280
NM_003126.4(SPTA1):c.3477+15C>T	SNV Germline	Chr1:158651352	Conflicting classifications of pathogenicity	not specified Elliptocytosis 2 Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Condition: not provided	Criteria Provided Conflicting Classifications	CA1183050	rs_369904982	3 SubmittersRCV000246583 RCV000271973 RCV000329462 RCV000378108 RCV002519915
NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys)	SNV Germline	Chr1:158667938	Conflicting classifications of pathogenicity	not specified Hereditary spherocytosis type 3 Elliptocytosis 2 Pyropoikilocytosis, hereditary Condition: not provided	Criteria Provided Conflicting Classifications	CA1183560	rs_148912436	7 SubmittersRCV000249178 RCV000268090 RCV000323182 RCV000381211 RCV000756691
NM_003126.4(SPTA1):c.1078A>T (p.Thr360Ser)	SNV Germline	Chr1:158676175	Conflicting classifications of pathogenicity	not specified Elliptocytosis 2 Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA1183923	rs_34133563	5 SubmittersRCV000248680 RCV000267684 RCV000325111 RCV000382110 RCV000966764
NM_000037.4(ANK1):c.5544+91C>T	SNV Germline	Chr8:41661785	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spherocytosis type 1	Criteria Provided Conflicting Classifications	CA4727116	rs_72638959	6 SubmittersRCV000253589 RCV001508609 RCV000988051
NM_000037.4(ANK1):c.4974C>T (p.Asp1658=)	SNV Germline	Chr8:41672476	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 not specified Condition: not provided Spherocytosis	Criteria Provided Conflicting Classifications	CA4727414	rs_149859024	5 SubmittersRCV000282509 RCV000247478 RCV000969890 RCV001164659
NM_000037.4(ANK1):c.4008G>A (p.Pro1336=)	SNV Germline	Chr8:41690323	Conflicting classifications of pathogenicity	not specified Hereditary spherocytosis type 1 Spherocytosis Condition: not provided	Criteria Provided Conflicting Classifications	CA4727703	rs_147536061	4 SubmittersRCV000247698 RCV001000209 RCV001159844 RCV002058300
NM_000037.4(ANK1):c.2960+13G>T	SNV Germline	Chr8:41696350	Conflicting classifications of pathogenicity	not specified Hereditary spherocytosis type 1 Spherocytosis Condition: not provided	Criteria Provided Conflicting Classifications	CA4728036	rs_200746947	3 SubmittersRCV000245467 RCV000270233 RCV001160078 RCV003765541
NM_000037.4(ANK1):c.2196+6G>A	SNV Germline	Chr8:41704368	Conflicting classifications of pathogenicity	not specified Condition: not provided Spherocytosis Hereditary spherocytosis type 1	Criteria Provided Conflicting Classifications	CA4728337	rs_200761553	5 SubmittersRCV000254082 RCV000909219 RCV001158388 RCV001158389
NM_000037.4(ANK1):c.1590C>T (p.Ala530=)	SNV Germline	Chr8:41715664	Conflicting classifications of pathogenicity	not specified Hereditary spherocytosis type 1 Condition: not provided Spherocytosis	Criteria Provided Conflicting Classifications	CA4728574	rs_61758865	5 SubmittersRCV000252683 RCV000319695 RCV000970680 RCV001165205
NM_000037.4(ANK1):c.1506C>T (p.Ala502=)	SNV Germline	Chr8:41715748	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spherocytosis type 1 Spherocytosis	Criteria Provided Conflicting Classifications	CA4728595	rs_34387324	5 SubmittersRCV000246717 RCV000879423 RCV001158497 RCV001158496
NM_000037.4(ANK1):c.1484A>G (p.Asn495Ser)	SNV Germline	Chr8:41715770	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spherocytosis type 1 Spherocytosis	Criteria Provided Conflicting Classifications	CA4728601	rs_142690258	4 SubmittersRCV000241940 RCV000911518 RCV001161705 RCV001161704
NM_000037.4(ANK1):c.237C>T (p.Asn79=)	SNV Germline	Chr8:41727998	Conflicting classifications of pathogenicity	not specified Hereditary spherocytosis type 1 Condition: not provided Spherocytosis	Criteria Provided Conflicting Classifications	CA4729042	rs_372696694	4 SubmittersRCV000248603 RCV000336765 RCV000900022 RCV001158833
NM_001114134.2(EPB42):c.1279C>T (p.Arg427Cys)	SNV Germline	Chr15:43207238	Conflicting classifications of pathogenicity	not specified Hereditary spherocytosis type 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA7520373	rs_45594632	6 SubmittersRCV000249237 RCV000296485 RCV000899320
NM_001114134.2(EPB42):c.1032T>C (p.Asp344=)	SNV Germline	Chr15:43208273	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 5 Condition: not provided EPB42-related disorder	Criteria Provided Conflicting Classifications	CA7520420	rs_150481419	3 SubmittersRCV000359912 RCV003409372 RCV003891833
NM_001114134.2(EPB42):c.894C>T (p.Thr298=)	SNV Germline	Chr15:43208714	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spherocytosis type 5	Criteria Provided Conflicting Classifications	CA7520469	rs_35719500	5 SubmittersRCV000242547 RCV000971039 RCV001120392
NM_001114134.2(EPB42):c.453T>C (p.Asn151=)	SNV Germline	Chr15:43211512	Conflicting classifications of pathogenicity	not specified Hereditary spherocytosis type 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA7520606	rs_114136713	4 SubmittersRCV000249878 RCV000329505 RCV000889760
NM_001114134.2(EPB42):c.10+79G>A	SNV Germline	Chr15:43220737	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spherocytosis type 5	Criteria Provided Conflicting Classifications	CA7520721	rs_149249456	5 SubmittersRCV000247648 RCV000909752 RCV001116918
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His)	SNV Germline	Chr17:44259879	Conflicting classifications of pathogenicity	not specified Autosomal dominant distal renal tubular acidosis Renal tubular acidosis, distal, 4, with hemolytic anemia Hereditary spherocytosis type 4 Condition: not provided Hereditary spherocytosis type 4 Hemolytic anemia Autosomal dominant distal renal tubular acidosis Autosomal dominant distal renal tubular acidosis Renal tubular acidosis, distal, 4, with hemolytic anemia	Criteria Provided Conflicting Classifications	CA8600562	rs_147390654	11 SubmittersRCV000253978 RCV000709888 RCV000756654 RCV001127762 RCV001127763 RCV001127764 RCV005624347
NM_003126.4(SPTA1):c.7068A>C (p.Glu2356Asp)	SNV Germline	Chr1:158612883	Conflicting classifications of pathogenicity	Pyropoikilocytosis, hereditary Elliptocytosis 2 Condition: not provided Hereditary spherocytosis type 3	Criteria Provided Conflicting Classifications	CA1181738	rs_78598639	4 SubmittersRCV000304881 RCV000355023 RCV001248301 RCV000398747
NM_003126.4(SPTA1):c.6889C>T (p.Arg2297Trp)	SNV Germline	Chr1:158613821	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Elliptocytosis 2 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA1181790	rs_375016862	4 SubmittersRCV000276563 RCV000326856 RCV000384468 RCV004021362 RCV002522060
NM_003126.4(SPTA1):c.6132G>C (p.Leu2044=)	SNV Germline	Chr1:158620455	Conflicting classifications of pathogenicity	Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Elliptocytosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1182059	rs_186987240	5 SubmittersRCV000283382 RCV000340796 RCV000378935 RCV000891444
NM_003126.4(SPTA1):c.5410C>T (p.Leu1804Phe)	SNV Germline	Chr1:158635935	Conflicting classifications of pathogenicity	Elliptocytosis 2 Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Condition: not provided	Criteria Provided Conflicting Classifications	CA1182314	rs_116959874	3 SubmittersRCV000281691 RCV000336491 RCV000405152 RCV003480580
NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln)	SNV Germline	Chr1:158635967	Conflicting classifications of pathogenicity	Elliptocytosis 2 Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA1182321	rs_200938874	5 SubmittersRCV000395419 RCV000302703 RCV000348129 RCV001770231
NM_003126.4(SPTA1):c.5093T>C (p.Val1698Ala)	SNV Germline	Chr1:158638129	Conflicting classifications of pathogenicity	Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Elliptocytosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1182426	rs_182430449	2 SubmittersRCV000291032 RCV000340130 RCV000376040 RCV002522062
NM_003126.4(SPTA1):c.4919C>G (p.Ala1640Gly)	SNV Germline	Chr1:158639643	Conflicting classifications of pathogenicity	Elliptocytosis 2 Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA1182494	rs_369714529	2 SubmittersRCV000268123 RCV000323216 RCV000353537 RCV005090407
NM_003126.4(SPTA1):c.4833G>A (p.Arg1611=)	SNV Germline	Chr1:158639912	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Elliptocytosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1182545	rs_145288947	4 SubmittersRCV000264359 RCV000377905 RCV000328774 RCV000898683
NM_003126.4(SPTA1):c.3940T>C (p.Ser1314Pro)	SNV Germline	Chr1:158645551	Conflicting classifications of pathogenicity	Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Elliptocytosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1182881	rs_200308788	3 SubmittersRCV000263247 RCV000331062 RCV000367083 RCV001248300
NM_003126.4(SPTA1):c.3839A>G (p.Asp1280Gly)	SNV Germline	Chr1:158647596	Conflicting classifications of pathogenicity	Elliptocytosis 2 Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA1182921	rs_200890386	5 SubmittersRCV000259777 RCV000318383 RCV000373123 RCV004021364 RCV001356359
NM_003126.4(SPTA1):c.3829C>T (p.Arg1277Cys)	SNV Germline	Chr1:158647606	Conflicting classifications of pathogenicity	Elliptocytosis 2 Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA1182923	rs_143642542	6 SubmittersRCV000283192 RCV000324353 RCV000378980 RCV002261033 RCV004021365
NM_003126.4(SPTA1):c.3160A>T (p.Thr1054Ser)	SNV Germline	Chr1:158653302	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Elliptocytosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1183157	rs_145054175	3 SubmittersRCV000278510 RCV000335941 RCV000405289 RCV000756700
NM_003126.4(SPTA1):c.2655T>C (p.Arg885=)	SNV Germline	Chr1:158657627	Conflicting classifications of pathogenicity	Elliptocytosis 2 Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Condition: not provided	Criteria Provided Conflicting Classifications	CA1183319	rs_368544526	3 SubmittersRCV000260148 RCV000298890 RCV000360836 RCV000895045
NM_003126.4(SPTA1):c.2267T>C (p.Ile756Thr)	SNV Germline	Chr1:158662899	Conflicting classifications of pathogenicity	Elliptocytosis 2 Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA1183447	rs_118088187	4 SubmittersRCV000263914 RCV000319040 RCV000354020 RCV001508912 RCV004857715
NM_003126.4(SPTA1):c.1698C>T (p.Ala566=)	SNV Germline	Chr1:158669543	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Elliptocytosis 2	Criteria Provided Conflicting Classifications	CA1183644	rs_561401543	1 SubmittersRCV000277582 RCV000331474 RCV000385978
NM_003126.4(SPTA1):c.1533A>G (p.Ala511=)	SNV Germline	Chr1:158671409	Conflicting classifications of pathogenicity	Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Elliptocytosis 2 Condition: not provided SPTA1-related disorder	Criteria Provided Conflicting Classifications	CA1183727	rs_34446973	4 SubmittersRCV000263566 RCV000321040 RCV000375177 RCV000973287 RCV004549642
NM_003126.4(SPTA1):c.775G>A (p.Ala259Thr)	SNV Germline	Chr1:158678438	Conflicting classifications of pathogenicity	Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Elliptocytosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1184041	rs_187932146	3 SubmittersRCV000311351 RCV000345433 RCV000404400 RCV001850491
NM_003126.4(SPTA1):c.679G>A (p.Glu227Lys)	SNV Germline	Chr1:158678534	Conflicting classifications of pathogenicity	Elliptocytosis 2 Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA1184056	rs_199598260	4 SubmittersRCV000276051 RCV000314713 RCV000368406 RCV000889354
NM_003126.4(SPTA1):c.243T>C (p.Tyr81=)	SNV Germline	Chr1:158685129	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Elliptocytosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1184224	rs_369988146	2 SubmittersRCV000262252 RCV000301081 RCV000358555 RCV002519403
NM_003126.4(SPTA1):c.192T>A (p.Asp64Glu)	SNV Germline	Chr1:158685180	Conflicting classifications of pathogenicity	Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Elliptocytosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1184237	rs_200860772	3 SubmittersRCV000269779 RCV000327229 RCV000384027 RCV001509090
NM_003126.4(SPTA1):c.54G>A (p.Leu18=)	SNV Germline	Chr1:158685318	Conflicting classifications of pathogenicity	Elliptocytosis 2 Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Condition: not provided SPTA1-related disorder	Criteria Provided Conflicting Classifications	CA1184261	rs_199690643	5 SubmittersRCV000349158 RCV000294265 RCV000405093 RCV000658527 RCV004549643
NM_003126.4(SPTA1):c.6378G>T (p.Val2126=)	SNV Germline	Chr1:158620209	Conflicting classifications of pathogenicity	Elliptocytosis 2 Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Condition: not provided SPTA1-related disorder	Criteria Provided Conflicting Classifications	CA1182023	rs_141823269	3 SubmittersRCV000261654 RCV000300884 RCV000367197 RCV003546498 RCV004737429
NM_003126.4(SPTA1):c.5358G>A (p.Gly1786=)	SNV Germline	Chr1:158635987	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 Elliptocytosis 2 Pyropoikilocytosis, hereditary Condition: not provided	Criteria Provided Conflicting Classifications	CA1182328	rs_368542665	2 SubmittersRCV000277544 RCV000308066 RCV000362687 RCV000907643
NM_003126.4(SPTA1):c.4694T>A (p.Leu1565Gln)	SNV Germline	Chr1:158642454	Conflicting classifications of pathogenicity	Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Elliptocytosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1182599	rs_202217097	6 SubmittersRCV000294742 RCV000349617 RCV000389064 RCV000917707
NM_003126.4(SPTA1):c.3398G>C (p.Arg1133Pro)	SNV Germline	Chr1:158651446	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 Elliptocytosis 2 Pyropoikilocytosis, hereditary Condition: not provided	Criteria Provided Conflicting Classifications	CA1183064	rs_35733059	3 SubmittersRCV000293245 RCV000389358 RCV000350472 RCV001812777
NM_003126.4(SPTA1):c.3149C>T (p.Pro1050Leu)	SNV Germline	Chr1:158653313	Conflicting classifications of pathogenicity	Elliptocytosis 2 Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Condition: not provided	Criteria Provided Conflicting Classifications	CA1183159	rs_116297260	3 SubmittersRCV000283271 RCV000340574 RCV000404635 RCV000756701
NM_003126.4(SPTA1):c.3108C>T (p.His1036=)	SNV Germline	Chr1:158653354	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Elliptocytosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1183172	rs_34886778	4 SubmittersRCV000310230 RCV000395152 RCV000362499 RCV002059337
NM_003126.4(SPTA1):c.3072C>T (p.Gly1024=)	SNV Germline	Chr1:158653390	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Elliptocytosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1183179	rs_747751954	2 SubmittersRCV000273527 RCV000313651 RCV000370625 RCV005230230
NM_003126.4(SPTA1):c.3037-14T>C	SNV Germline	Chr1:158653439	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 Elliptocytosis 2 Pyropoikilocytosis, hereditary Condition: not provided	Criteria Provided Conflicting Classifications	CA1183185	rs_142102801	4 SubmittersRCV000262772 RCV000330973 RCV000355418 RCV001812778
NM_003126.4(SPTA1):c.2160C>T (p.Ala720=)	SNV Germline	Chr1:158666376	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Elliptocytosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1183506	rs_199815523	2 SubmittersRCV000288709 RCV000343651 RCV000379325 RCV002227120
NM_003126.4(SPTA1):c.798A>G (p.Leu266=)	SNV Germline	Chr1:158678415	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Elliptocytosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1184033	rs_36058424	4 SubmittersRCV000284671 RCV000338605 RCV000376847 RCV000957519
NM_003126.4(SPTA1):c.793A>G (p.Asn265Asp)	SNV Germline	Chr1:158678420	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Elliptocytosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1184034	rs_183647059	4 SubmittersRCV000306827 RCV000342017 RCV000393037 RCV000889353
NM_003126.4(SPTA1):c.6850G>A (p.Asp2284Asn)	SNV Germline	Chr1:158613860	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Elliptocytosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1181797	rs_138732899	4 SubmittersRCV000296895 RCV000338302 RCV000402406 RCV000903571
NM_003126.4(SPTA1):c.5911G>A (p.Asp1971Asn)	SNV Germline	Chr1:158623192	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 Elliptocytosis 2 Pyropoikilocytosis, hereditary Condition: not provided	Criteria Provided Conflicting Classifications	CA1182137	rs_116466258	4 SubmittersRCV000282656 RCV000336545 RCV000374793 RCV001507997
NM_003126.4(SPTA1):c.5786C>G (p.Ala1929Gly)	SNV Germline	Chr1:158626886	Conflicting classifications of pathogenicity	Elliptocytosis 2 Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary not specified Condition: not provided SPTA1-related disorder	Criteria Provided Conflicting Classifications	CA1182196	rs_199547344	5 SubmittersRCV000261580 RCV000319189 RCV000354150 RCV004668886 RCV002261032 RCV004549639
NM_003126.4(SPTA1):c.3167G>T (p.Arg1056Leu)	SNV Germline	Chr1:158653295	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Elliptocytosis 2 SPTA1-related disorder Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA1183155	rs_188875641	6 SubmittersRCV000275888 RCV000333458 RCV000385681 RCV004549641 RCV000963777 RCV004021366
NM_003126.4(SPTA1):c.1680G>C (p.Leu560=)	SNV Germline	Chr1:158669561	Conflicting classifications of pathogenicity	Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Elliptocytosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1183652	rs_73020251	3 SubmittersRCV000285045 RCV000374835 RCV000338799 RCV000963778
NM_003126.4(SPTA1):c.345G>A (p.Arg115=)	SNV Germline	Chr1:158683416	Conflicting classifications of pathogenicity	Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Elliptocytosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1184194	rs_200343758	2 SubmittersRCV000297482 RCV000354624 RCV000404912 RCV005090410
NM_003126.4(SPTA1):c.174C>T (p.Phe58=)	SNV Germline	Chr1:158685198	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Elliptocytosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1184244	rs_190704778	4 SubmittersRCV000330784 RCV000292120 RCV000387627 RCV002522065
NM_003126.4(SPTA1):c.*68C>G	SNV Germline	Chr1:158611196	Conflicting classifications of pathogenicity	Pyropoikilocytosis, hereditary Elliptocytosis 2 Hereditary spherocytosis type 3	Criteria Provided Conflicting Classifications	CA10608368	rs_186892978	1 SubmittersRCV000262559 RCV000331748 RCV000375773
NM_003126.4(SPTA1):c.7104G>T (p.Lys2368Asn)	SNV Germline	Chr1:158612847	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Elliptocytosis 2 Condition: not provided not specified SPTA1-related disorder	Criteria Provided Conflicting Classifications	CA1181728	rs_112884419	8 SubmittersRCV000288553 RCV000348228 RCV000381859 RCV000756704 RCV002465612 RCV004549636
NM_003126.4(SPTA1):c.6233T>A (p.Ile2078Asn)	SNV Germline	Chr1:158620354	Conflicting classifications of pathogenicity	Elliptocytosis 2 Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA1182042	rs_757836340	2 SubmittersRCV000269191 RCV000326541 RCV000383425 RCV003718149
NM_003126.4(SPTA1):c.5834-15G>A	SNV Germline	Chr1:158626237	Conflicting classifications of pathogenicity	Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Condition: not provided Elliptocytosis 2	Criteria Provided Conflicting Classifications	CA1182170	rs_192889943	3 SubmittersRCV000302956 RCV000365233 RCV001812776 RCV000402300
NM_003126.4(SPTA1):c.5778C>T (p.Asp1926=)	SNV Germline	Chr1:158626894	Conflicting classifications of pathogenicity	Pyropoikilocytosis, hereditary Elliptocytosis 2 Hereditary spherocytosis type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA1182199	rs_146520285	3 SubmittersRCV000293760 RCV000332397 RCV000385371 RCV003114462
NM_003126.4(SPTA1):c.5566-10A>G	SNV Germline	Chr1:158627733	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Elliptocytosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1182254	rs_140863916	2 SubmittersRCV000298769 RCV000355930 RCV000399669 RCV003765705
NM_003126.4(SPTA1):c.4564A>G (p.Thr1522Ala)	SNV Germline	Chr1:158642855	Conflicting classifications of pathogenicity	Pyropoikilocytosis, hereditary Elliptocytosis 2 Condition: not provided Hereditary spherocytosis type 3 SPTA1-related disorder	Criteria Provided Conflicting Classifications	CA1182657	rs_201910178	7 SubmittersRCV000297861 RCV000361908 RCV001507481 RCV000397160 RCV004549640
NM_003126.4(SPTA1):c.4302G>A (p.Lys1434=)	SNV Germline	Chr1:158644289	Conflicting classifications of pathogenicity	Pyropoikilocytosis, hereditary Elliptocytosis 2 Hereditary spherocytosis type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA1182776	rs_77182042	3 SubmittersRCV000281272 RCV000336338 RCV000406503 RCV000888387
NM_003126.4(SPTA1):c.3697G>A (p.Val1233Ile)	SNV Germline	Chr1:158648526	Conflicting classifications of pathogenicity	Elliptocytosis 2 Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Condition: not provided	Criteria Provided Conflicting Classifications	CA1182969	rs_369125471	4 SubmittersRCV000291374 RCV000340503 RCV000383387 RCV002519402
NM_003126.4(SPTA1):c.3166C>T (p.Arg1056Cys)	SNV Germline	Chr1:158653296	Conflicting classifications of pathogenicity	Elliptocytosis 2 Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Condition: not provided	Criteria Provided Conflicting Classifications	CA1183156	rs_762361277	2 SubmittersRCV000293726 RCV000318294 RCV000375346 RCV003765706
NM_003126.4(SPTA1):c.2506A>G (p.Arg836Gly)	SNV Germline	Chr1:158661368	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 Elliptocytosis 2 Pyropoikilocytosis, hereditary Condition: not provided	Criteria Provided Conflicting Classifications	CA1183371	rs_201844450	4 SubmittersRCV000297257 RCV000335869 RCV000399026 RCV003137908
NM_003126.4(SPTA1):c.1982G>A (p.Arg661His)	SNV Germline	Chr1:158667914	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 Elliptocytosis 2 Pyropoikilocytosis, hereditary Condition: not provided not specified SPTA1-related disorder	Criteria Provided Conflicting Classifications	CA1183557	rs_201845149	8 SubmittersRCV000262342 RCV000358196 RCV000322140 RCV001727670 RCV001701840 RCV004737430
NM_003126.4(SPTA1):c.1817A>G (p.Asp606Gly)	SNV Germline	Chr1:158669424	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 Elliptocytosis 2 Pyropoikilocytosis, hereditary Condition: not provided	Criteria Provided Conflicting Classifications	CA1183620	rs_149441716	4 SubmittersRCV000270128 RCV000305247 RCV000360076 RCV000958506
NM_003126.4(SPTA1):c.1731G>T (p.Leu577Phe)	SNV Germline	Chr1:158669510	Conflicting classifications of pathogenicity	Pyropoikilocytosis, hereditary Elliptocytosis 2 Hereditary spherocytosis type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA1183636	rs_34211240	4 SubmittersRCV000271802 RCV000307142 RCV000366492 RCV000880557
NM_003126.4(SPTA1):c.1600-10A>G	SNV Germline	Chr1:158669796	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 Elliptocytosis 2 Pyropoikilocytosis, hereditary Condition: not provided	Criteria Provided Conflicting Classifications	CA1183693	rs_148156245	3 SubmittersRCV000308684 RCV000345760 RCV000405346 RCV000961006
NM_003126.4(SPTA1):c.853C>A (p.Pro285Thr)	SNV Germline	Chr1:158677794	Conflicting classifications of pathogenicity	Elliptocytosis 2 Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA1183992	rs_150007668	5 SubmittersRCV000273376 RCV000328361 RCV000365672 RCV000955255
NM_003126.4(SPTA1):c.812+7A>T	SNV Germline	Chr1:158678394	Conflicting classifications of pathogenicity	Elliptocytosis 2 Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA1184026	rs_186595817	2 SubmittersRCV000281275 RCV000315782 RCV000372799 RCV005090409
NM_003126.4(SPTA1):c.224T>C (p.Ile75Thr)	SNV Germline	Chr1:158685148	Conflicting classifications of pathogenicity	Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Elliptocytosis 2	Criteria Provided Conflicting Classifications	CA1184231	rs_146993090	1 SubmittersRCV000266135 RCV000323519 RCV000380383
NM_000037.4(ANK1):c.*774A>G	SNV Germline	Chr8:41655016	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis	Criteria Provided Conflicting Classifications	CA10625414	rs_142696529	1 SubmittersRCV000342881 RCV001162405
NM_000037.4(ANK1):c.3984+9A>G	SNV Germline	Chr8:41690465	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Condition: not provided Spherocytosis	Criteria Provided Conflicting Classifications	CA4727724	rs_369984591	2 SubmittersRCV000331979 RCV000897360 RCV001161249
NM_000037.4(ANK1):c.3652C>T (p.Arg1218Trp)	SNV Germline	Chr8:41692854	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Condition: not provided Spherocytosis	Criteria Provided Conflicting Classifications	CA4727804	rs_142542271	6 SubmittersRCV000344876 RCV000415950 RCV001164868
NM_000037.4(ANK1):c.2403G>A (p.Lys801=)	SNV Germline	Chr8:41701608	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis Condition: not provided	Criteria Provided Conflicting Classifications	CA4728243	rs_147130318	4 SubmittersRCV000281838 RCV001165100 RCV000755810
NM_000037.4(ANK1):c.2370G>T (p.Thr790=)	SNV Germline	Chr8:41702070	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis	Criteria Provided Conflicting Classifications	CA4728268	rs_540304535	1 SubmittersRCV000336833 RCV001165101
NM_000037.4(ANK1):c.229-11A>G	SNV Germline	Chr8:41728017	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Condition: not provided Spherocytosis	Criteria Provided Conflicting Classifications	CA4729047	rs_372152994	2 SubmittersRCV000407804 RCV002523683 RCV001160174
NM_000037.4(ANK1):c.5045G>A (p.Arg1682Gln)	SNV Germline	Chr8:41672405	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis Condition: not provided	Criteria Provided Conflicting Classifications	CA4727405	rs_140231188	3 SubmittersRCV000278155 RCV001162602 RCV001861323
NM_000037.4(ANK1):c.3399C>T (p.Thr1133=)	SNV Germline	Chr8:41694031	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Condition: not provided Spherocytosis	Criteria Provided Conflicting Classifications	CA4727887	rs_117516263	4 SubmittersRCV000342943 RCV000962919 RCV001161365
NM_000037.4(ANK1):c.3282G>A (p.Thr1094=)	SNV Germline	Chr8:41694637	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis Condition: not provided	Criteria Provided Conflicting Classifications	CA4727924	rs_144821829	3 SubmittersRCV000298525 RCV001162912 RCV000885197
NM_000037.4(ANK1):c.3115+9G>A	SNV Germline	Chr8:41695168	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Condition: not provided Spherocytosis	Criteria Provided Conflicting Classifications	CA4727979	rs_150850103	3 SubmittersRCV000311563 RCV000971000 RCV001164984
NM_000037.4(ANK1):c.3033C>T (p.Ser1011=)	SNV Germline	Chr8:41695259	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis Condition: not provided	Criteria Provided Conflicting Classifications	CA4727998	rs_61758866	4 SubmittersRCV001000407 RCV001164987 RCV000956602
NM_000037.4(ANK1):c.1563C>T (p.Ala521=)	SNV Germline	Chr8:41715691	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis Condition: not provided	Criteria Provided Conflicting Classifications	CA4728579	rs_762615459	2 SubmittersRCV000355865 RCV001158491 RCV000900127
NM_000037.4(ANK1):c.1404+15C>T	SNV Germline	Chr8:41716938	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis Condition: not provided	Criteria Provided Conflicting Classifications	CA4728636	rs_201598401	5 SubmittersRCV000286003 RCV001163229 RCV001508242
NM_000037.4(ANK1):c.1350G>A (p.Thr450=)	SNV Germline	Chr8:41717007	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis Condition: not provided	Criteria Provided Conflicting Classifications	CA4728644	rs_769803878	2 SubmittersRCV000322301 RCV001165325 RCV005055934
NM_000037.4(ANK1):c.1337G>C (p.Arg446Thr)	SNV Germline	Chr8:41717020	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4728649	rs_142010751	4 SubmittersRCV000376292 RCV001165326 RCV000913010 RCV004022072
NM_000037.4(ANK1):c.669G>A (p.Gln223=)	SNV Germline	Chr8:41724498	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis ANK1-related disorder	Criteria Provided Conflicting Classifications	CA4728908	rs_375060699	3 SubmittersRCV000265674 RCV001161928 RCV003902417
NM_000037.4(ANK1):c.*1708G>C	SNV Germline	Chr8:41654082	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis Condition: not provided	Criteria Provided Conflicting Classifications	CA10631015	rs_182454354	2 SubmittersRCV000274511 RCV001160688 RCV003311793
NM_000037.4(ANK1):c.*1402G>T	SNV Germline	Chr8:41654388	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis	Criteria Provided Conflicting Classifications	CA10631044	rs_116137861	1 SubmittersRCV000326563 RCV001164333
NM_000037.4(ANK1):c.*992T>C	SNV Germline	Chr8:41654798	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis	Criteria Provided Conflicting Classifications	CA10631045	rs_559077429	1 SubmittersRCV000377724 RCV001160780
NM_000037.4(ANK1):c.5376C>T (p.Thr1792=)	SNV Germline	Chr8:41668285	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Condition: not provided Spherocytosis	Criteria Provided Conflicting Classifications	CA4727305	rs_147232364	2 SubmittersRCV000265150 RCV000915662 RCV001159631
NM_000037.4(ANK1):c.3533-10G>A	SNV Germline	Chr8:41693211	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Condition: not provided Spherocytosis	Criteria Provided Conflicting Classifications	CA4727842	rs_374510116	2 SubmittersRCV000383443 RCV000902626 RCV001159956
NM_000037.4(ANK1):c.3288G>A (p.Pro1096=)	SNV Germline	Chr8:41694631	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 1 Spherocytosis	Criteria Provided Conflicting Classifications	CA4727922	rs_140964621	2 SubmittersRCV000923611 RCV000407860 RCV001162911
NM_000037.4(ANK1):c.3984+12C>T	SNV Germline	Chr8:41690462	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis Condition: not provided	Criteria Provided Conflicting Classifications	CA4727722	rs_200019819	2 SubmittersRCV000274712 RCV001161248 RCV003766089
NM_000037.4(ANK1):c.3234C>T (p.Pro1078=)	SNV Germline	Chr8:41694685	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis Condition: not provided	Criteria Provided Conflicting Classifications	CA4727935	rs_755219802	3 SubmittersRCV000355813 RCV001164983 RCV003430950
NM_000037.4(ANK1):c.2167C>A (p.His723Asn)	SNV Germline	Chr8:41704403	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4728345	rs_150899388	6 SubmittersRCV000393953 RCV001161593 RCV000963224 RCV002524563
NM_000037.4(ANK1):c.1926C>T (p.Ala642=)	SNV Germline	Chr8:41708850	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis Condition: not provided	Criteria Provided Conflicting Classifications	CA4728427	rs_534680895	3 SubmittersRCV000308341 RCV001163122 RCV002524565
NM_000037.4(ANK1):c.1503C>T (p.Thr501=)	SNV Germline	Chr8:41715751	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis Condition: not provided	Criteria Provided Conflicting Classifications	CA4728598	rs_145793923	2 SubmittersRCV000261396 RCV001161702 RCV005090602
NM_000037.4(ANK1):c.3532+13C>A	SNV Germline	Chr8:41693885	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis Condition: not provided	Criteria Provided Conflicting Classifications	CA4727857	rs_181905023	3 SubmittersRCV000291339 RCV001159957 RCV002524562
NM_000037.4(ANK1):c.2735+10G>A	SNV Germline	Chr8:41696666	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Condition: not provided Spherocytosis	Criteria Provided Conflicting Classifications	CA4728118	rs_75296105	3 SubmittersRCV000276024 RCV000905094 RCV001163011
NM_000037.4(ANK1):c.1203C>T (p.Thr401=)	SNV Germline	Chr8:41718109	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis Condition: not provided	Criteria Provided Conflicting Classifications	CA4728701	rs_145628190	2 SubmittersRCV000398433 RCV001165330 RCV000916901
NM_000037.4(ANK1):c.2097+15C>T	SNV Germline	Chr8:41706128	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis Condition: not provided	Criteria Provided Conflicting Classifications	CA4728370	rs_200206750	2 SubmittersRCV000302556 RCV001161594 RCV002524564
NM_000037.4(ANK1):c.711+13C>T	SNV Germline	Chr8:41724443	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis Condition: not provided	Criteria Provided Conflicting Classifications	CA4728897	rs_763737257	2 SubmittersRCV000259672 RCV001158720 RCV003766090
NM_000037.4(ANK1):c.876G>A (p.Leu292=)	SNV Germline	Chr8:41723158	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Condition: not provided ANK1-related disorder Spherocytosis	Criteria Provided Conflicting Classifications	CA4728820	rs_373060967	3 SubmittersRCV000354387 RCV000921435 RCV003922633 RCV001165445
NM_000037.4(ANK1):c.675C>T (p.Leu225=)	SNV Germline	Chr8:41724492	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Condition: not provided Spherocytosis	Criteria Provided Conflicting Classifications	CA4728907	rs_146507999	2 SubmittersRCV000360351 RCV000913208 RCV001158721
NM_001355436.2(SPTB):c.1606G>A (p.Asp536Asn)	SNV Germline	Chr14:64795375	Conflicting classifications of pathogenicity	Elliptocytosis Spherocytosis, Dominant Elliptocytosis 3 Condition: not provided Hereditary spherocytosis type 2	Criteria Provided Conflicting Classifications	CA7231074	rs_145675502	6 SubmittersRCV000303487 RCV000358248 RCV001329811 RCV001812815 RCV005355637
NM_001114134.2(EPB42):c.2032A>G (p.Asn678Asp)	SNV Germline	Chr15:43197346	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 5 Condition: not provided Inborn genetic diseases EPB42-related disorder	Criteria Provided Conflicting Classifications	CA7520140	rs_201674874	7 SubmittersRCV000379941 RCV002522792 RCV002522791 RCV003920326
NM_001114134.2(EPB42):c.1767C>A (p.His589Gln)	SNV Germline	Chr15:43203127	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA7520229	rs_114354377	4 SubmittersRCV000756092 RCV002520957
NM_000342.4(SLC4A1):c.2210C>T (p.Ala737Val)	SNV Germline	Chr17:44253219	Conflicting classifications of pathogenicity	Hemolytic anemia Spherocytosis, Dominant Distal Renal Tubular Acidosis, Dominant Hereditary spherocytosis type 4	Criteria Provided Conflicting Classifications	CA10639799	rs_886052997	2 SubmittersRCV000304165 RCV000342542 RCV000393610 RCV003329116
NM_000342.4(SLC4A1):c.636A>G (p.Ser212=)	SNV Germline	Chr17:44259555	Conflicting classifications of pathogenicity	Autosomal dominant distal renal tubular acidosis Hemolytic anemia Hereditary spherocytosis type 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA10639803	rs_886053000	2 SubmittersRCV000264081 RCV000302969 RCV000355427 RCV002522979
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys)	SNV Germline	Chr17:44260698	Conflicting classifications of pathogenicity	Autosomal dominant distal renal tubular acidosis Hemolytic anemia Hereditary spherocytosis type 4 Condition: not provided 11 conditions	Criteria Provided Conflicting Classifications	CA8600651	rs_538778224	6 SubmittersRCV000275834 RCV000334118 RCV000386246 RCV001355054 RCV005016713
NM_001114134.2(EPB42):c.1661G>A (p.Arg554Gln)	SNV Germline	Chr15:43203233	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7520250	rs_150037117	2 SubmittersRCV000384712 RCV004975443
NM_001114134.2(EPB42):c.430+12C>T	SNV Germline	Chr15:43215083	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA7520621	rs_185794093	3 SubmittersRCV000381808 RCV002520958
NM_001114134.2(EPB42):c.10+91G>A	SNV Germline	Chr15:43220725	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA7520718	rs_150530456	2 SubmittersRCV000282303 RCV002522793
NM_001355436.2(SPTB):c.4837C>T (p.Pro1613Ser)	SNV Germline	Chr14:64775130	Conflicting classifications of pathogenicity	Spherocytosis, Dominant Elliptocytosis Hereditary spherocytosis type 2 Condition: not provided SPTB-related disorder	Criteria Provided Conflicting Classifications	CA7230185	rs_375478086	5 SubmittersRCV000283035 RCV000375251 RCV003338569 RCV003546516 RCV003910181
NM_000342.4(SLC4A1):c.173A>G (p.Tyr58Cys)	SNV Germline	Chr17:44260811	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 4 Autosomal dominant distal renal tubular acidosis Hemolytic anemia Condition: not provided	Criteria Provided Conflicting Classifications	CA8600679	rs_368863744	2 SubmittersRCV000305664 RCV000339556 RCV000392701 RCV003565409
NM_000342.4(SLC4A1):c.-136C>T	SNV Germline	Chr17:44268121	Conflicting classifications of pathogenicity	Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 Hemolytic anemia Condition: not provided	Criteria Provided Conflicting Classifications	CA10645809	rs_566359654	2 SubmittersRCV000307890 RCV000362553 RCV000407012 RCV002261067
NM_001114134.2(EPB42):c.1165A>C (p.Ile389Leu)	SNV Germline	Chr15:43207352	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 5 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA7520386	rs_141596199	3 SubmittersRCV000356581 RCV003165851 RCV003556326
NM_001114134.2(EPB42):c.1025G>A (p.Gly342Asp)	SNV Germline	Chr15:43208280	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA7520423	rs_116484797	3 SubmittersRCV000267602 RCV000889759
NM_001114134.2(EPB42):c.10+97G>A	SNV Germline	Chr15:43220719	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA7520715	rs_372291145	2 SubmittersRCV000374411 RCV003574740
NM_001114134.2(EPB42):c.1386C>T (p.Asn462=)	SNV Germline	Chr15:43206562	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA7520335	rs_199505318	3 SubmittersRCV000345535 RCV003718175
NM_001114134.2(EPB42):c.10+60C>T	SNV Germline	Chr15:43220756	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA7520724	rs_144428415	4 SubmittersRCV000334960 RCV002061181
NM_000342.4(SLC4A1):c.2630T>C (p.Ile877Thr)	SNV Germline	Chr17:44251184	Conflicting classifications of pathogenicity	Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4	Criteria Provided Conflicting Classifications	CA8599985	rs_765911147	1 SubmittersRCV000263312 RCV000318381 RCV000358059
NM_000342.4(SLC4A1):c.2208C>T (p.Asn736=)	SNV Germline	Chr17:44253221	Conflicting classifications of pathogenicity	Autosomal dominant distal renal tubular acidosis Hemolytic anemia Hereditary spherocytosis type 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA8600094	rs_766674440	2 SubmittersRCV000262833 RCV000302762 RCV000355227 RCV000901725
NM_000342.4(SLC4A1):c.876+14G>A	SNV Germline	Chr17:44259149	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 4 Hemolytic anemia Autosomal dominant distal renal tubular acidosis Condition: not provided	Criteria Provided Conflicting Classifications	CA8600443	rs_571092411	2 SubmittersRCV000310154 RCV000362485 RCV000391080 RCV002056603
NM_000342.4(SLC4A1):c.202G>A (p.Glu68Lys)	SNV Germline	Chr17:44260782	Conflicting classifications of pathogenicity	Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 Hemolytic anemia Condition: not provided SLC4A1-related disorder	Criteria Provided Conflicting Classifications	CA8600670	rs_13306787	3 SubmittersRCV000288475 RCV000345874 RCV000401440 RCV001850728 RCV004549702
NM_000342.4(SLC4A1):c.*351G>T	SNV Germline	Chr17:44250107	Conflicting classifications of pathogenicity	Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 Hemolytic anemia	Criteria Provided Conflicting Classifications	CA10650258	rs_138242019	1 SubmittersRCV000297912 RCV000371331 RCV000403331
NM_000342.4(SLC4A1):c.457C>A (p.Leu153Met)	SNV Germline	Chr17:44260432	Conflicting classifications of pathogenicity	Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 Hemolytic anemia Condition: not provided	Criteria Provided Conflicting Classifications	CA8600597	rs_145041032	5 SubmittersRCV000262760 RCV000315657 RCV000372661 RCV001812856
NM_003126.4(SPTA1):c.3357G>C (p.Lys1119Asn)	SNV Germline	Chr1:158652485	Conflicting classifications of pathogenicity	Condition: not provided Elliptocytosis 2 Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 SPTA1-related disorder	Criteria Provided Conflicting Classifications	CA1183091	rs_200230894	8 SubmittersRCV000443048 RCV001099386 RCV001099387 RCV001101374 RCV004737490
NM_001355436.2(SPTB):c.6095T>C (p.Leu2032Pro)	SNV Germline	Chr14:64767787	Pathogenic	Hereditary spherocytosis	No Assertion Criteria Provided	CA390039437	rs_1555366607	1 SubmittersRCV000625738
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp)	SNV Germline	Chr1:158619331	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 Elliptocytosis 2 Condition: not provided Pyropoikilocytosis, hereditary Elliptocytosis 2 Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3	Criteria Provided Conflicting Classifications	CA1181985	rs_41273519	10 SubmittersRCV000655918 RCV001096844 RCV001507992 RCV001096843 RCV005392256
NM_003126.4(SPTA1):c.2898G>A (p.Gln966=)	SNV Germline	Chr1:158656564	Likely pathogenic	Hereditary spherocytosis type 3	Criteria Provided Single Submitter	CA421287338	rs_1553232007	1 SubmittersRCV000655919
NM_003126.4(SPTA1):c.1688G>A (p.Arg563Gln)	SNV Germline	Chr1:158669553	Conflicting classifications of pathogenicity	Pyropoikilocytosis, hereditary Elliptocytosis 2 Familial hemolytic anemia Hereditary spherocytosis type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA1183648	rs_202243588	5 SubmittersRCV001099974 RCV001099973 RCV000655917 RCV001099975 RCV002534241
NM_000037.4(ANK1):c.5152C>T (p.Gln1718Ter)	SNV Germline	Chr8:41668509	Pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371051975	rs_1554522035	1 SubmittersRCV000655896
NM_000037.4(ANK1):c.4462C>T (p.Arg1488Ter)	SNV Germline	Chr8:41684619	Pathogenic	Condition: not provided Hereditary spherocytosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA175923046	rs_777701149	6 SubmittersRCV002275141 RCV000655899
NM_000037.4(ANK1):c.1702-2A>C	SNV Germline	Chr8:41714256	Pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371069546	rs_1554567249	1 SubmittersRCV000655897
NM_000037.4(ANK1):c.1A>G (p.Met1Val)	SNV Germline	Chr8:41797538	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371053195	rs_1554627073	1 SubmittersRCV000655900
NM_001355436.2(SPTB):c.5623C>T (p.Gln1875Ter)	SNV Germline	Chr14:64771060	Pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter	CA390040503	rs_1555367359	1 SubmittersRCV000655914
NM_001355436.2(SPTB):c.4973+5G>A	SNV Germline	Chr14:64774392	Pathogenic/Likely pathogenic	Hereditary spherocytosis type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA658798223	rs_1555367789	5 SubmittersRCV000655910 RCV001379964
NM_001355436.2(SPTB):c.3916C>T (p.Arg1306Ter)	SNV Germline	Chr14:64784333	Pathogenic/Likely pathogenic	Condition: not provided Hereditary spherocytosis type 2	Criteria Provided Multiple Submitters No Conflicts	CA7230456	rs_150471537	7 SubmittersRCV001507847 RCV000655913
NM_001355436.2(SPTB):c.2863C>T (p.Arg955Ter)	SNV Germline	Chr14:64787102	Pathogenic	Hereditary spherocytosis type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA390047744	rs_1555369657	7 SubmittersRCV000655909 RCV001784220
NM_001355436.2(SPTB):c.647G>A (p.Arg216Gln)	SNV Germline	Chr14:64801754	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 2 SPTB-related disorder Condition: not provided Hereditary spherocytosis type 2 Elliptocytosis 3	Criteria Provided Conflicting Classifications	CA390031881	rs_1555371769	7 SubmittersRCV000655908 RCV003432719 RCV003133483 RCV004796261
NM_000342.4(SLC4A1):c.2423G>A (p.Arg808His)	SNV Germline	Chr17:44251477	Pathogenic/Likely pathogenic	Condition: not provided Hereditary spherocytosis type 4 Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4	Criteria Provided Multiple Submitters No Conflicts	CA290925289	rs_866727908	4 SubmittersRCV003140049 RCV000655906 RCV002290971
NM_000342.4(SLC4A1):c.1458C>G (p.Tyr486Ter)	SNV Germline	Chr17:44257518	Pathogenic	Hereditary spherocytosis type 4	Criteria Provided Single Submitter	CA399786001	rs_1555596072	1 SubmittersRCV000655902
NM_000342.4(SLC4A1):c.1322T>G (p.Leu441Arg)	SNV Germline	Chr17:44257768	Likely pathogenic	Hereditary spherocytosis type 4	Criteria Provided Single Submitter	CA399787649	rs_1555596165	1 SubmittersRCV000655904
NM_000342.4(SLC4A1):c.695-3C>A	SNV Germline	Chr17:44259347	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 4 11 conditions	Criteria Provided Conflicting Classifications	CA8600495	rs_772264078	2 SubmittersRCV000655905 RCV005019093
NM_000342.4(SLC4A1):c.486-2A>G	SNV Germline	Chr17:44259934	Pathogenic	Hereditary spherocytosis type 4	Criteria Provided Single Submitter	CA399794233	rs_1555596757	1 SubmittersRCV000655903
NM_003126.4(SPTA1):c.6631C>T (p.Arg2211Cys)	SNV Germline	Chr1:158615373	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 3	Criteria Provided Conflicting Classifications	CA1181897	rs_773800556	3 SubmittersRCV000756698 RCV001336018
NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His)	SNV Germline	Chr1:158652612	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 3 Elliptocytosis 2 Pyropoikilocytosis, hereditary	Criteria Provided Conflicting Classifications	CA1183113	rs_199612744	6 SubmittersRCV000756706 RCV001101375 RCV001101376 RCV001101377
NM_003126.4(SPTA1):c.2954T>C (p.Leu985Ser)	SNV Germline	Chr1:158654693	Conflicting classifications of pathogenicity	Condition: not provided not specified Elliptocytosis 2 Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3	Criteria Provided Conflicting Classifications	CA1183221	rs_774722673	5 SubmittersRCV001811467 RCV004027134 RCV005047015
NM_003126.4(SPTA1):c.1703G>A (p.Arg568His)	SNV Germline	Chr1:158669538	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 3 Elliptocytosis 2 Pyropoikilocytosis, hereditary	Criteria Provided Conflicting Classifications	CA1183641	rs_200829664	6 SubmittersRCV000756694 RCV001098198 RCV001098199 RCV001098200
NM_003126.4(SPTA1):c.33G>C (p.Glu11Asp)	SNV Germline	Chr1:158685339	Conflicting classifications of pathogenicity	Condition: not provided Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Elliptocytosis 2 SPTA1-related disorder	Criteria Provided Conflicting Classifications	CA1184269	rs_41273533	6 SubmittersRCV000756695 RCV001098793 RCV001098794 RCV001098795 RCV004547948
NM_000037.4(ANK1):c.4606C>T (p.Arg1536Cys)	SNV Germline	Chr8:41672844	Conflicting classifications of pathogenicity	Spherocytosis Hereditary spherocytosis type 1 Inborn genetic diseases Condition: not provided ANK1-related disorder	Criteria Provided Conflicting Classifications	CA4727477	rs_146416859	5 SubmittersRCV001159736 RCV001164662 RCV002536557 RCV003688880 RCV003918234
NM_000037.4(ANK1):c.2029C>T (p.Gln677Ter)	SNV Germline	Chr8:41706211	Pathogenic/Likely pathogenic	Hereditary spherocytosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA371067515	rs_1563502820	3 SubmittersRCV000755817 RCV005092171
NM_001114134.2(EPB42):c.581G>A (p.Arg194His)	SNV Germline	Chr15:43210408	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 5	Criteria Provided Conflicting Classifications	CA7520576	rs_146348439	4 SubmittersRCV000757223 RCV003144581
NM_001355436.2(SPTB):c.4063G>T (p.Glu1355Ter)	SNV Unknown	Chr14:64782493	Pathogenic	Hereditary spherocytosis	Criteria Provided Single Submitter	CA390045083	rs_1566754467	1 SubmittersRCV000766108
NM_003126.4(SPTA1):c.748C>T (p.Arg250Cys)	SNV Germline	Chr1:158678465	Conflicting classifications of pathogenicity	Condition: not provided Elliptocytosis 2 Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary	Criteria Provided Conflicting Classifications	CA1184046	rs_143459302	5 SubmittersRCV000955256 RCV001098602 RCV001098603 RCV001098604
NM_001114134.2(EPB42):c.1672G>A (p.Glu558Lys)	SNV Germline	Chr15:43203222	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 5	Criteria Provided Conflicting Classifications	CA7520246	rs_75424023	3 SubmittersRCV000957267 RCV001804112
NM_000037.4(ANK1):c.5601G>A (p.Ala1867=)	SNV Germline	Chr8:41661508	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 1 Spherocytosis ANK1-related disorder	Criteria Provided Conflicting Classifications	CA4727062	rs_150975400	3 SubmittersRCV000971551 RCV001164545 RCV001164546 RCV003906018
NM_003126.4(SPTA1):c.1181A>G (p.Asn394Ser)	SNV Germline	Chr1:158674607	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 3 Elliptocytosis 2 Pyropoikilocytosis, hereditary SPTA1-related disorder	Criteria Provided Conflicting Classifications	CA1183881	rs_111834376	6 SubmittersRCV000880558 RCV001098395 RCV001098396 RCV001098394 RCV004550010
NM_000037.4(ANK1):c.4022C>T (p.Ser1341Leu)	SNV Germline	Chr8:41690309	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 1 Spherocytosis	Criteria Provided Conflicting Classifications	CA4727698	rs_145562489	4 SubmittersRCV000891399 RCV001159842 RCV001159843
NM_000037.4(ANK1):c.3668T>C (p.Val1223Ala)	SNV Germline	Chr8:41692838	Conflicting classifications of pathogenicity	Spherocytosis Condition: not provided Hereditary spherocytosis type 1	Criteria Provided Conflicting Classifications	CA4727798	rs_185516533	3 SubmittersRCV001164865 RCV000879225 RCV001164864
NM_000037.4(ANK1):c.2745G>A (p.Val915=)	SNV Germline	Chr8:41696578	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 1	Criteria Provided Conflicting Classifications	CA4728093	rs_143585080	3 SubmittersRCV000880623 RCV003117632
NM_000037.4(ANK1):c.1483A>C (p.Asn495His)	SNV Germline	Chr8:41715771	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 1	Criteria Provided Conflicting Classifications	CA4728602	rs_143839208	4 SubmittersRCV000883267 RCV001804043
NM_000037.4(ANK1):c.1387G>A (p.Val463Ile)	SNV Germline	Chr8:41716970	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 1 not specified	Criteria Provided Conflicting Classifications	CA4728642	rs_140085544	6 SubmittersRCV000893197 RCV001163232 RCV005436272
NM_000037.4(ANK1):c.5395-1080C>T	SNV Germline	Chr8:41664822	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 1	Criteria Provided Conflicting Classifications	CA175912904	rs_143349452	2 SubmittersRCV000889440 RCV002227225
NM_000037.4(ANK1):c.3102C>T (p.Asn1034=)	SNV Germline	Chr8:41695190	Conflicting classifications of pathogenicity	Condition: not provided Spherocytosis Hereditary spherocytosis type 1 ANK1-related disorder	Criteria Provided Conflicting Classifications	CA4727987	rs_145169484	4 SubmittersRCV000906589 RCV001164986 RCV001164985 RCV003910840
NM_000037.4(ANK1):c.2830G>A (p.Ala944Thr)	SNV Germline	Chr8:41696493	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 1 Spherocytosis ANK1-related disorder	Criteria Provided Conflicting Classifications	CA4728070	rs_35797405	6 SubmittersRCV000897766 RCV001161489 RCV001161490 RCV003940804
NM_000037.4(ANK1):c.2589C>T (p.Pro863=)	SNV Germline	Chr8:41698091	Conflicting classifications of pathogenicity	Condition: not provided Spherocytosis Hereditary spherocytosis type 1	Criteria Provided Conflicting Classifications	CA4728168	rs_114870847	3 SubmittersRCV000897960 RCV001165098 RCV001165097
NM_000037.4(ANK1):c.2132A>G (p.Tyr711Cys)	SNV Germline	Chr8:41704438	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 1 ANK1-related disorder	Criteria Provided Conflicting Classifications	CA4728349	rs_139375455	4 SubmittersRCV000903376 RCV001804071 RCV003975758
NM_003126.4(SPTA1):c.5457A>G (p.Leu1819=)	SNV Germline	Chr1:158634651	Conflicting classifications of pathogenicity	Condition: not provided Pyropoikilocytosis, hereditary Elliptocytosis 2 Hereditary spherocytosis type 3	Criteria Provided Conflicting Classifications	CA1182285	rs_186994154	4 SubmittersRCV000917706 RCV001100621 RCV001100622 RCV001100623
NM_003126.4(SPTA1):c.4591G>C (p.Ala1531Pro)	SNV Germline	Chr1:158642828	Conflicting classifications of pathogenicity	Condition: not provided Elliptocytosis 2 Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 not specified	Criteria Provided Conflicting Classifications	CA1182651	rs_143779235	7 SubmittersRCV000917708 RCV001099086 RCV001099087 RCV001099088 RCV004029417
NM_003126.4(SPTA1):c.3472C>T (p.Arg1158Trp)	SNV Germline	Chr1:158651372	Conflicting classifications of pathogenicity	Condition: not provided Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Elliptocytosis 2	Criteria Provided Conflicting Classifications	CA1183053	rs_374770895	3 SubmittersRCV000918783 RCV005392546
NM_000037.4(ANK1):c.4448T>G (p.Leu1483Arg)	SNV Germline	Chr8:41684633	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 1 not specified	Criteria Provided Conflicting Classifications	CA4727549	rs_141408004	3 SubmittersRCV000924756 RCV001002429 RCV005231971
NM_000037.4(ANK1):c.4341T>C (p.Ser1447=)	SNV Germline	Chr8:41686201	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 1 Spherocytosis	Criteria Provided Conflicting Classifications	CA4727594	rs_112677283	2 SubmittersRCV000912699 RCV001162696 RCV001161141
NM_000037.4(ANK1):c.2982G>A (p.Pro994=)	SNV Germline	Chr8:41695310	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 1 Spherocytosis	Criteria Provided Conflicting Classifications	CA4728013	rs_139623406	3 SubmittersRCV000912664 RCV001160074 RCV001160075
NM_000037.4(ANK1):c.483G>A (p.Ala161=)	SNV Germline	Chr8:41725890	Conflicting classifications of pathogenicity	Spherocytosis ANK1-related disorder Condition: not provided Hereditary spherocytosis type 1	Criteria Provided Conflicting Classifications	CA4728963	rs_200639644	3 SubmittersRCV001163740 RCV003933000 RCV000912225 RCV001163741
NM_000037.4(ANK1):c.447G>T (p.Ala149=)	SNV Germline	Chr8:41725926	Conflicting classifications of pathogenicity	Condition: not provided Spherocytosis Hereditary spherocytosis type 1	Criteria Provided Conflicting Classifications	CA4728969	rs_140550365	4 SubmittersRCV000912337 RCV001163743 RCV001163744
NM_000342.4(SLC4A1):c.2193C>T (p.Ser731=)	SNV Germline	Chr17:44253236	Conflicting classifications of pathogenicity	Condition: not provided Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 SLC4A1-related disorder	Criteria Provided Conflicting Classifications	CA8600097	rs_754017629	4 SubmittersRCV000913755 RCV001124391 RCV001124393 RCV001124392 RCV004551799
NM_000037.4(ANK1):c.3570A>C (p.Gly1190=)	SNV Germline	Chr8:41693164	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 1 Spherocytosis	Criteria Provided Conflicting Classifications	CA4727836	rs_762382303	2 SubmittersRCV000943243 RCV001159954 RCV001159955
NM_000037.4(ANK1):c.2389-10C>T	SNV Germline	Chr8:41701632	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 1	Criteria Provided Conflicting Classifications	CA4728248	rs_764935260	3 SubmittersRCV000941704 RCV001199186
NM_003126.4(SPTA1):c.1351-4A>G	SNV Germline	Chr1:158672200	Conflicting classifications of pathogenicity	Condition: not provided Pyropoikilocytosis, hereditary Elliptocytosis 2 Hereditary spherocytosis type 3 SPTA1-related disorder	Criteria Provided Conflicting Classifications	CA1183795	rs_200868774	5 SubmittersRCV000958051 RCV001100079 RCV001100080 RCV001100081 RCV004553428
NM_000037.4(ANK1):c.5544+46G>A	SNV Germline	Chr8:41661830	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 1	Criteria Provided Conflicting Classifications	CA4727130	rs_114905632	4 SubmittersRCV000972775 RCV001803179
NM_003126.4(SPTA1):c.5263C>G (p.His1755Asp)	SNV Germline	Chr1:158636688	Likely pathogenic	Hereditary spherocytosis type 3	No Assertion Criteria Provided	CA31264862	rs_377659326	1 SubmittersRCV000985101
NM_003126.4(SPTA1):c.1833+1G>A	SNV Germline	Chr1:158669407	Pathogenic/Likely pathogenic	Pyropoikilocytosis, hereditary Condition: not provided Elliptocytosis 2 Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3	Criteria Provided Multiple Submitters No Conflicts	CA31260585	rs_1035389616	6 SubmittersRCV000986445 RCV001508916 RCV005047158
NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp)	SNV Germline	Chr17:44253151	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 4 SLC4A1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA8600090	rs_373916826	9 SubmittersRCV000989925 RCV004740527 RCV002227236
NM_001355436.2(SPTB):c.3679C>T (p.Pro1227Ser)	SNV Germline	Chr14:64785834	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 2	Criteria Provided Conflicting Classifications	CA7230553	rs_149186357	5 SubmittersRCV000995192 RCV002249601
NM_001114134.2(EPB42):c.1387G>A (p.Gly463Ser)	SNV Germline	Chr15:43206561	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 5 Inborn genetic diseases EPB42-related disorder	Criteria Provided Conflicting Classifications	CA7520334	rs_148871144	8 SubmittersRCV000995313 RCV001118556 RCV002549907 RCV003396577
NM_003126.4(SPTA1):c.2608G>A (p.Val870Met)	SNV Germline	Chr1:158657674	Conflicting classifications of pathogenicity	not specified Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Elliptocytosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1183327	rs_140291959	6 SubmittersRCV001000650 RCV001096158 RCV001096160 RCV001096159 RCV002550739
NM_000037.4(ANK1):c.4306C>T (p.Arg1436Ter)	SNV Germline	Chr8:41686236	Pathogenic	Hereditary spherocytosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA371057477	rs_1586072383	3 SubmittersRCV001002452 RCV005093024
NM_000037.4(ANK1):c.4153C>T (p.Arg1385Ter)	SNV Germline	Chr8:41688541	Pathogenic	Hereditary spherocytosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA4727647	rs_750820522	2 SubmittersRCV001002482
NM_000037.4(ANK1):c.3555G>A (p.Trp1185Ter)	SNV Germline	Chr8:41693179	Pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371059225	rs_1586145051	1 SubmittersRCV001002400
NM_000037.4(ANK1):c.1153C>T (p.Arg385Cys)	SNV Germline	Chr8:41718159	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis Condition: not provided Immunodeficiency 62 ANK1-related disorder	Criteria Provided Conflicting Classifications	CA4728717	rs_142626656	6 SubmittersRCV001000394 RCV001161824 RCV001869418 RCV003447570 RCV003928656
NM_000037.4(ANK1):c.499G>C (p.Gly167Arg)	SNV Germline	Chr8:41725874	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis Condition: not provided	Criteria Provided Conflicting Classifications	CA4728957	rs_201024919	4 SubmittersRCV001002597 RCV001163455 RCV005093026
NM_001355436.2(SPTB):c.4267C>T (p.Arg1423Ter)	SNV Germline	Chr14:64779931	Pathogenic	not specified Condition: not provided Hereditary spherocytosis type 2	Criteria Provided Multiple Submitters No Conflicts	CA390044638	rs_1594767593	5 SubmittersRCV001002577 RCV001784539 RCV002290981
NM_001355436.2(SPTB):c.2519G>A (p.Arg840His)	SNV Germline	Chr14:64793144	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA7230848	rs_146326769	6 SubmittersRCV001257426 RCV001811601 RCV002249612
NM_001114134.2(EPB42):c.1124C>T (p.Thr375Met)	SNV Germline	Chr15:43207393	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 5 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA7520390	rs_115972761	5 SubmittersRCV001000900 RCV002549147 RCV004693431
NM_000342.4(SLC4A1):c.733G>A (p.Val245Met)	SNV Germline	Chr17:44259306	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 4 Hemolytic anemia Autosomal dominant distal renal tubular acidosis 11 conditions	Criteria Provided Conflicting Classifications	CA8600480	rs_148170067	6 SubmittersRCV001059827 RCV001123578 RCV001127676 RCV001127677 RCV005012507
NM_001355436.2(SPTB):c.6119C>T (p.Thr2040Ile)	SNV Germline	Chr14:64767763	Likely pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter	CA390039382	rs_1345709572	1 SubmittersRCV001089997
NM_003126.4(SPTA1):c.*387T>C	SNV Germline	Chr1:158610877	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 Elliptocytosis 2 Pyropoikilocytosis, hereditary	Criteria Provided Conflicting Classifications	CA31249111	rs_549664412	1 SubmittersRCV001096455 RCV001096457 RCV001096456
NM_003126.4(SPTA1):c.6236G>T (p.Arg2079Leu)	SNV Germline	Chr1:158620351	Conflicting classifications of pathogenicity	Pyropoikilocytosis, hereditary Elliptocytosis 2 Hereditary spherocytosis type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA1182039	rs_754206036	2 SubmittersRCV001100371 RCV001100372 RCV001100373 RCV003718315
NM_003126.4(SPTA1):c.6235C>T (p.Arg2079Trp)	SNV Germline	Chr1:158620352	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 Elliptocytosis 2 Pyropoikilocytosis, hereditary Condition: not provided	Criteria Provided Conflicting Classifications	CA1182041	rs_372075053	4 SubmittersRCV001100374 RCV001100375 RCV001100376 RCV003142047
NM_003126.4(SPTA1):c.5838T>C (p.Asp1946=)	SNV Germline	Chr1:158626218	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Elliptocytosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1182165	rs_200330662	4 SubmittersRCV001100509 RCV001100507 RCV001100508 RCV001811653
NM_003126.4(SPTA1):c.5049G>T (p.Gln1683His)	SNV Germline	Chr1:158638173	Conflicting classifications of pathogenicity	Pyropoikilocytosis, hereditary Elliptocytosis 2 Hereditary spherocytosis type 3 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA1182438	rs_746762359	3 SubmittersRCV001100977 RCV001100976 RCV001100978 RCV004032073 RCV003558667
NM_003126.4(SPTA1):c.4862T>A (p.Phe1621Tyr)	SNV Germline	Chr1:158639883	Conflicting classifications of pathogenicity	Elliptocytosis 2 Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Condition: not provided	Criteria Provided Conflicting Classifications	CA1182538	rs_374298000	4 SubmittersRCV001098998 RCV001099000 RCV001098999 RCV001811651
NM_003126.4(SPTA1):c.4850G>A (p.Arg1617Gln)	SNV Germline	Chr1:158639895	Conflicting classifications of pathogenicity	Elliptocytosis 2 Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA1182541	rs_564887323	5 SubmittersRCV001100814 RCV001100815 RCV001100816 RCV002261275 RCV004032072
NM_003126.4(SPTA1):c.4708G>A (p.Ala1570Thr)	SNV Germline	Chr1:158642440	Conflicting classifications of pathogenicity	Elliptocytosis 2 Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Condition: not provided	Criteria Provided Conflicting Classifications	CA1182589	rs_778626016	3 SubmittersRCV001101065 RCV001101066 RCV001101064 RCV003883553
NM_003126.4(SPTA1):c.4240C>T (p.Arg1414Cys)	SNV Germline	Chr1:158644351	Conflicting classifications of pathogenicity	Elliptocytosis 2 Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA1182783	rs_201399968	5 SubmittersRCV001097421 RCV001097422 RCV001097423 RCV002555992
NM_003126.4(SPTA1):c.2971C>T (p.Arg991Cys)	SNV Germline	Chr1:158654676	Conflicting classifications of pathogenicity	Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Elliptocytosis 2	Criteria Provided Conflicting Classifications	CA1183219	rs_565611676	1 SubmittersRCV001096034 RCV001096035 RCV001096036
NM_003126.4(SPTA1):c.2600C>A (p.Ala867Glu)	SNV Germline	Chr1:158657682	Conflicting classifications of pathogenicity	Elliptocytosis 2 Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Condition: not provided	Criteria Provided Conflicting Classifications	CA1183329	rs_115877891	7 SubmittersRCV001097899 RCV001097900 RCV001097901 RCV001811649
NM_003126.4(SPTA1):c.1588G>A (p.Glu530Lys)	SNV Germline	Chr1:158671354	Conflicting classifications of pathogenicity	Elliptocytosis 2 Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Condition: not provided	Criteria Provided Conflicting Classifications	CA1183711	rs_767641820	3 SubmittersRCV001101974 RCV001101976 RCV001101975 RCV004691374
NM_003126.4(SPTA1):c.1175C>T (p.Ala392Val)	SNV Germline	Chr1:158674613	Conflicting classifications of pathogenicity	Pyropoikilocytosis, hereditary Elliptocytosis 2 Hereditary spherocytosis type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA1183883	rs_748917509	4 SubmittersRCV001098399 RCV001098398 RCV001098397 RCV003490069
NM_003126.4(SPTA1):c.749G>A (p.Arg250His)	SNV Germline	Chr1:158678464	Conflicting classifications of pathogenicity	Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Elliptocytosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1184045	rs_759192785	4 SubmittersRCV001096845 RCV001096846 RCV001098601 RCV001811648
NM_003126.4(SPTA1):c.551T>G (p.Val184Gly)	SNV Germline	Chr1:158680710	Conflicting classifications of pathogenicity	Elliptocytosis 2 Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA1184099	rs_746827368	3 SubmittersRCV001100378 RCV001100377 RCV001100379 RCV003736976 RCV004032064
NM_003126.4(SPTA1):c.326C>T (p.Ser109Phe)	SNV Germline	Chr1:158683435	Conflicting classifications of pathogenicity	Pyropoikilocytosis, hereditary Elliptocytosis 2 Hereditary spherocytosis type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA1184197	rs_3737521	3 SubmittersRCV001098694 RCV001098695 RCV001098696 RCV001811650
NM_003126.4(SPTA1):c.47A>T (p.Lys16Met)	SNV Germline	Chr1:158685325	Conflicting classifications of pathogenicity	Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Elliptocytosis 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA1184264	rs_201634881	4 SubmittersRCV001098792 RCV001098791 RCV001098790 RCV003490070 RCV004671220
NM_003126.4(SPTA1):c.6601-10G>A	SNV Germline	Chr1:158615413	Conflicting classifications of pathogenicity	Pyropoikilocytosis, hereditary Elliptocytosis 2 Hereditary spherocytosis type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA1181908	rs_753769799	2 SubmittersRCV001098498 RCV001098497 RCV001098499 RCV005093475
NM_003126.4(SPTA1):c.5311-4T>A	SNV Germline	Chr1:158636038	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 Elliptocytosis 2 Pyropoikilocytosis, hereditary Condition: not provided	Criteria Provided Conflicting Classifications	CA1182334	rs_544472935	5 SubmittersRCV001097153 RCV001097154 RCV001098897 RCV002511035
NM_003126.4(SPTA1):c.4875+12C>T	SNV Germline	Chr1:158639858	Conflicting classifications of pathogenicity	Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Elliptocytosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1182532	rs_139797540	3 SubmittersRCV001098995 RCV001098996 RCV001098997 RCV002554931
NM_003126.4(SPTA1):c.3715-11T>C	SNV Germline	Chr1:158647731	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 Pyropoikilocytosis, hereditary Elliptocytosis 2	Criteria Provided Conflicting Classifications	CA1182946	rs_147184530	1 SubmittersRCV001101274 RCV001101275 RCV001101276
NM_001114134.2(EPB42):c.1636G>A (p.Gly546Ser)	SNV Germline	Chr15:43203258	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7520258	rs_369068948	2 SubmittersRCV001118554 RCV003246699
NM_001114134.2(EPB42):c.1602G>A (p.Thr534=)	SNV Germline	Chr15:43206346	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 5 Condition: not provided EPB42-related disorder	Criteria Provided Conflicting Classifications	CA7520303	rs_149742998	4 SubmittersRCV001118555 RCV002069920 RCV003928719
NM_001114134.2(EPB42):c.1041G>T (p.Gln347His)	SNV Germline	Chr15:43208264	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 5 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA7520419	rs_574359460	5 SubmittersRCV001120088 RCV001508384 RCV003987785
NM_000342.4(SLC4A1):c.*1393A>T	SNV Germline	Chr17:44249065	Conflicting classifications of pathogenicity	Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 Hemolytic anemia	Criteria Provided Conflicting Classifications	CA290923988	rs_139308660	1 SubmittersRCV001126533 RCV001128591 RCV001128592
NM_000342.4(SLC4A1):c.*5C>T	SNV Germline	Chr17:44250453	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 4 Hemolytic anemia Autosomal dominant distal renal tubular acidosis	Criteria Provided Conflicting Classifications	CA8599943	rs_748428663	1 SubmittersRCV001127257 RCV001127259 RCV001127258
NM_000342.4(SLC4A1):c.2716G>C (p.Glu906Gln)	SNV Germline	Chr17:44250478	Conflicting classifications of pathogenicity	Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 Condition: not provided not specified Autosomal dominant distal renal tubular acidosis Renal tubular acidosis, distal, 4, with hemolytic anemia	Criteria Provided Conflicting Classifications	CA8599948	rs_199694087	5 SubmittersRCV001127262 RCV001127261 RCV001127260 RCV002070082 RCV002249736 RCV005624454
NM_000342.4(SLC4A1):c.2625G>A (p.Pro875=)	SNV Germline	Chr17:44251189	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 4 Autosomal dominant distal renal tubular acidosis Hemolytic anemia Condition: not provided	Criteria Provided Conflicting Classifications	CA8599986	rs_202243808	2 SubmittersRCV001124274 RCV001124272 RCV001124273 RCV001882409
NM_000342.4(SLC4A1):c.2547G>A (p.Val849=)	SNV Germline	Chr17:44251267	Conflicting classifications of pathogenicity	Hemolytic anemia Hereditary spherocytosis type 4 Autosomal dominant distal renal tubular acidosis Condition: not provided	Criteria Provided Conflicting Classifications	CA8600000	rs_753357599	2 SubmittersRCV001127357 RCV001127359 RCV001127358 RCV002556785
NM_000342.4(SLC4A1):c.2401A>C (p.Ser801Arg)	SNV Germline	Chr17:44251499	Conflicting classifications of pathogenicity	Hemolytic anemia Hereditary spherocytosis type 4 Autosomal dominant distal renal tubular acidosis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8600038	rs_775095594	3 SubmittersRCV001123288 RCV001123287 RCV001123289 RCV003142050 RCV003283988
NM_000342.4(SLC4A1):c.1971C>T (p.Ser657=)	SNV Germline	Chr17:44254582	Conflicting classifications of pathogenicity	Hemolytic anemia Hereditary spherocytosis type 4 Autosomal dominant distal renal tubular acidosis	Criteria Provided Conflicting Classifications	CA8600156	rs_200107906	1 SubmittersRCV001125392 RCV001125393 RCV001127474
NM_000342.4(SLC4A1):c.1928C>T (p.Ser643Phe)	SNV Germline	Chr17:44254625	Conflicting classifications of pathogenicity	Autosomal dominant distal renal tubular acidosis Hemolytic anemia Hereditary spherocytosis type 4	Criteria Provided Conflicting Classifications	CA8600164	rs_763988041	1 SubmittersRCV001123372 RCV001123373 RCV001127478
NM_000342.4(SLC4A1):c.1671G>A (p.Val557=)	SNV Germline	Chr17:44255802	Conflicting classifications of pathogenicity	Hemolytic anemia Hereditary spherocytosis type 4 Autosomal dominant distal renal tubular acidosis SLC4A1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA8600221	rs_147838240	3 SubmittersRCV001124476 RCV001124475 RCV001124477 RCV004547995 RCV003727881
NM_000342.4(SLC4A1):c.1258G>A (p.Ala420Thr)	SNV Germline	Chr17:44258010	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 4 Hemolytic anemia Autosomal dominant distal renal tubular acidosis 11 conditions Condition: not provided SLC4A1-related disorder	Criteria Provided Conflicting Classifications	CA8600338	rs_142905862	6 SubmittersRCV001127589 RCV001127590 RCV001127591 RCV005012582 RCV001362841 RCV004740575
NM_000342.4(SLC4A1):c.1151G>A (p.Arg384His)	SNV Germline	Chr17:44258117	Conflicting classifications of pathogenicity	Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA8600364	rs_13306776	4 SubmittersRCV001124569 RCV001124571 RCV001124570 RCV002558229
NM_000342.4(SLC4A1):c.826A>G (p.Ile276Val)	SNV Germline	Chr17:44259213	Conflicting classifications of pathogenicity	Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 Condition: not provided 11 conditions	Criteria Provided Conflicting Classifications	CA8600454	rs_746406399	5 SubmittersRCV001127671 RCV001127672 RCV001127670 RCV001241221 RCV005012583
NM_000342.4(SLC4A1):c.719C>T (p.Pro240Leu)	SNV Germline	Chr17:44259320	Conflicting classifications of pathogenicity	Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 not specified	Criteria Provided Conflicting Classifications	CA8600484	rs_764833865	2 SubmittersRCV001123579 RCV001123580 RCV001123581 RCV004800700
NM_000342.4(SLC4A1):c.706T>G (p.Phe236Val)	SNV Germline	Chr17:44259333	Conflicting classifications of pathogenicity	Autosomal dominant distal renal tubular acidosis Hemolytic anemia Hereditary spherocytosis type 4 Condition: not provided Autosomal dominant distal renal tubular acidosis Renal tubular acidosis, distal, 4, with hemolytic anemia	Criteria Provided Conflicting Classifications	CA8600487	rs_141605301	3 SubmittersRCV001123583 RCV001123582 RCV001123584 RCV001221611 RCV005624453
NM_000342.4(SLC4A1):c.672A>G (p.Ser224=)	SNV Germline	Chr17:44259519	Conflicting classifications of pathogenicity	Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 Hemolytic anemia Condition: not provided	Criteria Provided Conflicting Classifications	CA8600515	rs_772317162	2 SubmittersRCV001124655 RCV001124656 RCV001124657 RCV002558230
NM_000342.4(SLC4A1):c.615T>C (p.Asp205=)	SNV Germline	Chr17:44259576	Conflicting classifications of pathogenicity	Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA8600525	rs_5038	4 SubmittersRCV001125661 RCV001125659 RCV001125660 RCV001811668
NM_000342.4(SLC4A1):c.567C>G (p.Leu189=)	SNV Germline	Chr17:44259851	Conflicting classifications of pathogenicity	Hemolytic anemia Hereditary spherocytosis type 4 Autosomal dominant distal renal tubular acidosis Condition: not provided SLC4A1-related disorder	Criteria Provided Conflicting Classifications	CA8600559	rs_746103796	3 SubmittersRCV001125662 RCV001125663 RCV001127761 RCV003698838 RCV004548003
NM_000342.4(SLC4A1):c.486-10C>T	SNV Germline	Chr17:44259942	Conflicting classifications of pathogenicity	Hemolytic anemia Hereditary spherocytosis type 4 Autosomal dominant distal renal tubular acidosis	Criteria Provided Conflicting Classifications	CA8600575	rs_376999476	1 SubmittersRCV001127767 RCV001127765 RCV001127766
NM_000342.4(SLC4A1):c.349+15C>G	SNV Germline	Chr17:44260620	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 4 Autosomal dominant distal renal tubular acidosis Hemolytic anemia Condition: not provided	Criteria Provided Conflicting Classifications	CA8600636	rs_541501285	2 SubmittersRCV001121979 RCV001121981 RCV001121980 RCV001507387
NM_000037.4(ANK1):c.*1892G>A	SNV Germline	Chr8:41653898	Conflicting classifications of pathogenicity	Spherocytosis Hereditary spherocytosis type 1	Criteria Provided Conflicting Classifications	CA175909853	rs_116365681	1 SubmittersRCV001159318 RCV001159319
NM_000037.4(ANK1):c.*857C>A	SNV Germline	Chr8:41654933	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis	Criteria Provided Conflicting Classifications	CA175910128	rs_138767348	1 SubmittersRCV001160783 RCV001160784
NM_000037.4(ANK1):c.*821C>T	SNV Germline	Chr8:41654969	Conflicting classifications of pathogenicity	Spherocytosis Hereditary spherocytosis type 1	Criteria Provided Conflicting Classifications	CA175910134	rs_115248068	1 SubmittersRCV001162401 RCV001162402
NM_000037.4(ANK1):c.*395T>A	SNV Germline	Chr8:41655395	Conflicting classifications of pathogenicity	Spherocytosis Hereditary spherocytosis type 1	Criteria Provided Conflicting Classifications	CA175910269	rs_550204540	1 SubmittersRCV001159516 RCV001159517
NM_000037.4(ANK1):c.*8C>A	SNV Germline	Chr8:41661458	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis	Criteria Provided Conflicting Classifications	CA4727044	rs_146341756	2 SubmittersRCV001162507 RCV001162506
NM_000037.4(ANK1):c.5520C>T (p.Ala1840=)	SNV Germline	Chr8:41661900	Conflicting classifications of pathogenicity	Spherocytosis Hereditary spherocytosis type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA4727142	rs_116148295	2 SubmittersRCV001164547 RCV001164548 RCV003737009
NM_000037.4(ANK1):c.4136C>T (p.Pro1379Leu)	SNV Germline	Chr8:41688558	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA4727653	rs_748160803	4 SubmittersRCV001162701 RCV001164753 RCV004986856 RCV003769785
NM_000037.4(ANK1):c.3829G>A (p.Val1277Met)	SNV Germline	Chr8:41692677	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis Condition: not provided ANK1-related disorder	Criteria Provided Conflicting Classifications	CA4727773	rs_148942046	5 SubmittersRCV001162798 RCV001162797 RCV001815502 RCV003938535
NM_000037.4(ANK1):c.1859G>A (p.Ser620Asn)	SNV Germline	Chr8:41708917	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4728442	rs_750068521	5 SubmittersRCV001163123 RCV002261295 RCV004986858
NM_000037.4(ANK1):c.1197G>A (p.Ala399=)	SNV Germline	Chr8:41718115	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis Condition: not provided	Criteria Provided Conflicting Classifications	CA4728703	rs_756075877	3 SubmittersRCV001158604 RCV001158603 RCV003425961
NM_000037.4(ANK1):c.1194C>T (p.Asp398=)	SNV Germline	Chr8:41718118	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA4728706	rs_148471199	2 SubmittersRCV001158605 RCV003718372
NM_000037.4(ANK1):c.997G>A (p.Asp333Asn)	SNV Germline	Chr8:41719771	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Condition: not provided ANK1-related disorder See cases	Criteria Provided Conflicting Classifications	CA4728769	rs_147608206	6 SubmittersRCV001163344 RCV002067984 RCV003908415 RCV002252320
NM_000037.4(ANK1):c.528C>T (p.Ala176=)	SNV Germline	Chr8:41725845	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis	Criteria Provided Conflicting Classifications	CA4728946	rs_544906793	1 SubmittersRCV001163453 RCV001163454
NM_000037.4(ANK1):c.4105-5T>G	SNV Germline	Chr8:41688594	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Spherocytosis Condition: not provided ANK1-related disorder	Criteria Provided Conflicting Classifications	CA4727662	rs_768183148	5 SubmittersRCV001164754 RCV001164755 RCV002557409 RCV003945886
NM_003126.4(SPTA1):c.2320C>T (p.Arg774Ter)	SNV Germline	Chr1:158662846	Pathogenic/Likely pathogenic	Hereditary spherocytosis type 3 Condition: not provided Elliptocytosis 2	Criteria Provided Multiple Submitters No Conflicts	CA1183440	rs_751026146	3 SubmittersRCV001198343 RCV003490109 RCV005429051
NM_000037.4(ANK1):c.4855G>T (p.Glu1619Ter)	SNV Unknown	Chr8:41672595	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371053938	rs_774067157	1 SubmittersRCV001198178
NM_003126.4(SPTA1):c.4347G>T (p.Lys1449Asn)	SNV Germline	Chr1:158643417	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Hereditary spherocytosis type 3	Criteria Provided Conflicting Classifications	CA1182736	rs_375506528	6 SubmittersRCV001265821 RCV001880101 RCV004789501
NM_003126.4(SPTA1):c.4339-99C>T	SNV Germline	Chr1:158643524	Pathogenic/Likely pathogenic	Elliptocytosis 2 Hereditary spherocytosis SPTA1-related disorder Pyropoikilocytosis, hereditary Hereditary spherocytosis type 3 Elliptocytosis 2 Pyropoikilocytosis, hereditary Condition: not provided Hereditary spherocytosis type 3	Criteria Provided Multiple Submitters No Conflicts	CA31267577	rs_200830867	13 SubmittersRCV002246311 RCV001449698 RCV004548177 RCV002504518 RCV003152762 RCV001507483 RCV001804163
NM_003126.4(SPTA1):c.3477+1G>C	SNV Germline	Chr1:158651366	Pathogenic	Hereditary spherocytosis type 3	Criteria Provided Single Submitter	CA343036569	rs_2101857591	1 SubmittersRCV001534598
NM_000037.4(ANK1):c.4057C>T (p.Gln1353Ter)	SNV Germline	Chr8:41690274	Pathogenic	Hereditary spherocytosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA371058054	rs_2150585752	2 SubmittersRCV001534607
NM_001355436.2(SPTB):c.4842+1G>C	SNV Germline	Chr14:64775124	Pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter	CA390043379	rs_2139513700	1 SubmittersRCV001534601
NM_001355436.2(SPTB):c.3936G>A (p.Trp1312Ter)	SNV Germline	Chr14:64784313	Pathogenic/Likely pathogenic	Condition: not provided Hereditary spherocytosis type 2	Criteria Provided Multiple Submitters No Conflicts	CA390045377	rs_2139555500	2 SubmittersRCV001507846 RCV001534600
NM_001355436.2(SPTB):c.2278C>T (p.Gln760Ter)	SNV Germline	Chr14:64793385	Pathogenic	Hereditary spherocytosis type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA390018258	rs_2139594261	2 SubmittersRCV001534603 RCV001871646
NM_001355436.2(SPTB):c.1024C>T (p.Gln342Ter)	SNV Germline	Chr14:64799787	Pathogenic	Hereditary spherocytosis type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA390029017	rs_2139621075	2 SubmittersRCV001534602 RCV003120529
NM_001114134.2(EPB42):c.832G>C (p.Val278Leu)	SNV Germline	Chr15:43209274	Likely pathogenic	Hereditary spherocytosis type 5	Criteria Provided Single Submitter	CA7520510	rs_772330879	1 SubmittersRCV001534608
NM_001114134.2(EPB42):c.323C>T (p.Thr108Ile)	SNV Germline	Chr15:43215202	Likely pathogenic	Hereditary spherocytosis type 5	Criteria Provided Single Submitter	CA392121356	rs_2142314789	1 SubmittersRCV001534609
NM_000342.4(SLC4A1):c.2312G>T (p.Gly771Val)	SNV Germline	Chr17:44251588	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 4 11 conditions	Criteria Provided Conflicting Classifications	CA399781304	rs_121912741	2 SubmittersRCV001534596 RCV004796408
NM_000342.4(SLC4A1):c.2269A>T (p.Lys757Ter)	SNV Germline	Chr17:44253160	Pathogenic	Hereditary spherocytosis type 4	Criteria Provided Single Submitter	CA399781461	rs_2144601154	1 SubmittersRCV001534595
NM_000037.4(ANK1):c.3984+2T>C	SNV Germline	Chr8:41690472	Pathogenic/Likely pathogenic	Hereditary spherocytosis type 1 Condition: not provided ANK1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA371058219	rs_1818974494	4 SubmittersRCV001286718 RCV002537948 RCV004727076
NM_000037.4(ANK1):c.2389-1G>A	SNV Germline	Chr8:41701623	Pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371065119	rs_1822828039	1 SubmittersRCV001287845
NM_000037.4(ANK1):c.2164C>T (p.Gln722Ter)	SNV Germline	Chr8:41704406	Pathogenic/Likely pathogenic	Condition: not provided Hereditary spherocytosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA371066661	rs_747701761	3 SubmittersRCV004793377 RCV001286935
NM_000037.4(ANK1):c.1891G>T (p.Glu631Ter)	SNV Germline	Chr8:41708885	Pathogenic	Hereditary spherocytosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA371067910	rs_1825406258	2 SubmittersRCV001286066 RCV005428163
NM_000037.4(ANK1):c.841C>T (p.Arg281Ter)	SNV Germline	Chr8:41723193	Pathogenic	Hereditary spherocytosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA371042112	rs_1829712320	7 SubmittersRCV001287819 RCV001508247
NM_000037.4(ANK1):c.-204C>G	SNV Germline	Chr8:41797742	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA175931457	rs_117184692	4 SubmittersRCV001285464 RCV003426026
NM_001355436.2(SPTB):c.4735C>T (p.Arg1579Ter)	SNV Germline	Chr14:64775232	Pathogenic/Likely pathogenic	Condition: not provided Hereditary spherocytosis type 2	Criteria Provided Multiple Submitters No Conflicts	CA390043618	rs_760938057	6 SubmittersRCV001508365 RCV004789514
NM_000342.4(SLC4A1):c.609+1G>A	SNV Germline	Chr17:44259808	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA399793154	rs_1362663440	4 SubmittersRCV004789515 RCV001813178
NM_003126.4(SPTA1):c.6788+11C>T	SNV Germline	Chr1:158615205	Pathogenic	Hereditary spherocytosis Hereditary spherocytosis type 3	Criteria Provided Multiple Submitters No Conflicts	CA1181863	rs_779537034	2 SubmittersRCV001290767 RCV003234029
NM_001355436.2(SPTB):c.4105A>G (p.Lys1369Glu)	SNV Germline	Chr14:64782451	Conflicting classifications of pathogenicity	Elliptocytosis 3 Hereditary spherocytosis type 2 Condition: not provided Elliptocytosis 3 Hereditary spherocytosis type 2	Criteria Provided Conflicting Classifications	CA7230403	rs_760803657	5 SubmittersRCV001329813 RCV002290996 RCV003481074 RCV005394949
NM_001355436.2(SPTB):c.774G>A (p.Thr258=)	SNV Germline	Chr14:64800858	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA7231325	rs_12435635	4 SubmittersRCV001329817 RCV002261340
NM_003126.4(SPTA1):c.3139C>T (p.Arg1047Ter)	SNV Germline	Chr1:158653323	Pathogenic	Condition: not provided Hereditary spherocytosis type 3	Criteria Provided Multiple Submitters No Conflicts	CA343037995	rs_762088983	4 SubmittersRCV001507486 RCV002250762
NM_003126.4(SPTA1):c.2671C>T (p.Arg891Ter)	SNV Germline	Chr1:158657611	Pathogenic	Condition: not provided Hereditary spherocytosis type 3	Criteria Provided Multiple Submitters No Conflicts	CA1183313	rs_755630903	7 SubmittersRCV001508908 RCV004789641
NM_003126.4(SPTA1):c.660T>A (p.Tyr220Ter)	SNV Germline	Chr1:158680601	Pathogenic/Likely pathogenic	Condition: not provided Hereditary spherocytosis type 3	Criteria Provided Multiple Submitters No Conflicts	CA343020460	rs_2101942740	2 SubmittersRCV001509083 RCV002291000
NM_000037.4(ANK1):c.4000C>T (p.Arg1334Ter)	SNV Germline	Chr8:41690331	Pathogenic/Likely pathogenic	Condition: not provided Hereditary spherocytosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA371058175	rs_1172677213	5 SubmittersRCV001509336 RCV001564049
NM_000037.4(ANK1):c.3386G>T (p.Ser1129Ile)	SNV Germline	Chr8:41694044	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 1	Criteria Provided Conflicting Classifications	CA371059582	rs_2150592257	2 SubmittersRCV001509337 RCV003490264
NM_000037.4(ANK1):c.2960+1G>A	SNV Germline	Chr8:41696362	Likely pathogenic	Condition: not provided Hereditary spherocytosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA371061851	rs_2150596703	2 SubmittersRCV001509341 RCV003132510
NM_000037.4(ANK1):c.2197-17G>A	SNV Germline	Chr8:41704156	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 1	Criteria Provided Conflicting Classifications	CA4728317	rs_188360816	3 SubmittersRCV001509344 RCV001803333
NM_000037.4(ANK1):c.2098-5T>C	SNV Germline	Chr8:41704477	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 1	Criteria Provided Conflicting Classifications	CA2499219305	rs_2150613009	3 SubmittersRCV001509345 RCV003490265
NM_001355436.2(SPTB):c.6068C>T (p.Ala2023Val)	SNV Germline	Chr14:64767814	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 2 SPTB-related disorder	Criteria Provided Conflicting Classifications	CA7229762	rs_367841692	4 SubmittersRCV001508357 RCV003333161 RCV003399263
NM_001355436.2(SPTB):c.4291C>T (p.Arg1431Ter)	SNV Germline	Chr14:64779907	Pathogenic/Likely pathogenic	Condition: not provided Hereditary spherocytosis type 2 Chudley-McCullough syndrome	Criteria Provided Multiple Submitters No Conflicts	CA7230343	rs_757836263	6 SubmittersRCV001507841 RCV004762150 RCV004813174
NM_001355436.2(SPTB):c.1912C>T (p.Arg638Ter)	SNV Germline	Chr14:64793751	Pathogenic	Condition: not provided Hereditary spherocytosis type 2	Criteria Provided Multiple Submitters No Conflicts	CA390020545	rs_2139596300	5 SubmittersRCV001508729 RCV003326582
NM_001114134.2(EPB42):c.620A>G (p.Gln207Arg)	SNV Germline	Chr15:43210369	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Hereditary spherocytosis type 5	Criteria Provided Conflicting Classifications	CA7520574	rs_758323919	4 SubmittersRCV001507866 RCV003284360 RCV003145676
NM_001114134.2(EPB42):c.256G>T (p.Asp86Tyr)	SNV Germline	Chr15:43215269	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 5	Criteria Provided Conflicting Classifications	CA7520647	rs_113768282	4 SubmittersRCV001507869 RCV002227276
NM_000342.4(SLC4A1):c.1468C>T (p.Arg490Cys)	SNV Germline	Chr17:44257508	Pathogenic/Likely pathogenic	Condition: not provided Hereditary spherocytosis type 4 SLC4A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA399785930	rs_1398477044	7 SubmittersRCV001507382 RCV002290998 RCV004728747
NM_001355436.2(SPTB):c.3877A>T (p.Lys1293Ter)	SNV Germline	Chr14:64784372	Likely pathogenic	Hereditary spherocytosis type 2	No Assertion Criteria Provided	CA390045499	rs_763084936	1 SubmittersRCV001822889
NM_000037.4(ANK1):c.4465C>T (p.Gln1489Ter)	SNV Germline	Chr8:41684616	Pathogenic/Likely pathogenic	Condition: not provided Hereditary spherocytosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA371057127	rs_1187228917	2 SubmittersRCV002539780 RCV001728105
NM_000037.4(ANK1):c.3629+2T>C	SNV Germline	Chr8:41693103	Pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371059057	rs_2150590331	1 SubmittersRCV001728112
NM_000037.4(ANK1):c.2098-1G>T	SNV Germline/somatic	Chr8:41704473	Pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371066986	rs_2150612992	2 SubmittersRCV001731172
NM_000037.4(ANK1):c.4098C>A (p.Cys1366Ter)	SNV Somatic	Chr8:41690233	Pathogenic	Hereditary spherocytosis type 1	No Assertion Criteria Provided	CA371057964	rs_538989808	1 SubmittersRCV001731173
NM_000037.4(ANK1):c.712-2A>T	SNV Germline	Chr8:41723635	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371043173	rs_2150653010	1 SubmittersRCV001785924
NM_000037.4(ANK1):c.2961-2A>G	SNV Germline	Chr8:41695333	Pathogenic/Likely pathogenic	Hereditary spherocytosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA371061792	rs_2150594692	2 SubmittersRCV001785925 RCV003481128
NM_000037.4(ANK1):c.3928C>T (p.Gln1310Ter)	SNV Germline	Chr8:41690530	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371058347	rs_2150586181	1 SubmittersRCV001785927
NM_000037.4(ANK1):c.3157C>T (p.Arg1053Ter)	SNV Germline	Chr8:41694762	Pathogenic	Hereditary spherocytosis type 1 Condition: not provided ANK1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA371060741	rs_2150593517	4 SubmittersRCV001785929 RCV001885175 RCV003416450
NM_000037.4(ANK1):c.1895C>A (p.Ser632Ter)	SNV Germline	Chr8:41708881	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371067889	rs_749423708	1 SubmittersRCV001785933
NM_000037.4(ANK1):c.2558+2T>C	SNV Germline	Chr8:41699450	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371063904	rs_2150602525	1 SubmittersRCV001785934
NM_000037.4(ANK1):c.1124T>G (p.Leu375Ter)	SNV Germline	Chr8:41718188	Pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371040118	rs_2150641057	1 SubmittersRCV001803633
NM_000037.4(ANK1):c.5600C>T (p.Ala1867Val)	SNV Germline	Chr8:41661509	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1	Criteria Provided Conflicting Classifications	CA4727063	rs_767580738	2 SubmittersRCV001802276
NM_000037.4(ANK1):c.2803C>T (p.Arg935Ter)	SNV Germline	Chr8:41696520	Pathogenic	Condition: not provided Hereditary spherocytosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA371062318	rs_2150597061	6 SubmittersRCV001869471 RCV001802420
NM_000037.4(ANK1):c.409C>T (p.Gln137Ter)	SNV Germline	Chr8:41727267	Pathogenic/Likely pathogenic	Hereditary spherocytosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA371045029	rs_2150661792	4 SubmittersRCV001802573 RCV003481130
NM_000037.4(ANK1):c.1702-2A>G	SNV Germline	Chr8:41714256	Pathogenic/Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA371069545	rs_1554567249	2 SubmittersRCV001802754
NM_003126.4(SPTA1):c.3841C>T (p.Arg1281Cys)	SNV Germline	Chr1:158647594	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spherocytosis type 3	Criteria Provided Conflicting Classifications	CA1182919	rs_199685020	6 SubmittersRCV001806280 RCV003444931
NM_001355436.2(SPTB):c.1182+2T>C	SNV Germline	Chr14:64797727	Likely pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter	CA390026443	rs_2139613101	1 SubmittersRCV001805745
NM_001355436.2(SPTB):c.5446A>T (p.Lys1816Ter)	SNV Germline	Chr14:64772687	Likely pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter	CA390040882	rs_1480466529	1 SubmittersRCV001807992
NM_000037.4(ANK1):c.5108G>A (p.Trp1703Ter)	SNV Germline	Chr8:41668553	Pathogenic/Likely pathogenic	Hereditary spherocytosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA371052255	rs_2150556792	2 SubmittersRCV001808148 RCV005095216
NM_000037.4(ANK1):c.4390+1G>A	SNV Germline	Chr8:41686151	Likely pathogenic	Condition: not provided Hereditary spherocytosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA371057287	rs_2150580336	2 SubmittersRCV002031289 RCV003130683
NM_000037.4(ANK1):c.4414C>T (p.Gln1472Ter)	SNV Germline	Chr8:41684667	Pathogenic	Condition: not provided Hereditary spherocytosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA371057225	rs_1228535558	2 SubmittersRCV001884612 RCV002291004
NM_000037.4(ANK1):c.856C>T (p.Arg286Ter)	SNV Germline	Chr8:41723178	Pathogenic	Condition: not provided Hereditary spherocytosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA371042049	rs_2150651762	5 SubmittersRCV001942222 RCV003490972
NM_001355436.2(SPTB):c.4873C>T (p.Arg1625Ter)	SNV Germline	Chr14:64774497	Pathogenic	Condition: not provided Hereditary spherocytosis type 2 SPTB-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA390043296	rs_2139511447	7 SubmittersRCV001994865 RCV002291006 RCV003948842
NM_000037.4(ANK1):c.5192C>G (p.Ser1731Ter)	SNV Germline	Chr8:41668469	Pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371051711	rs_2487607030	1 SubmittersRCV002291007
NM_000037.4(ANK1):c.5071C>T (p.Gln1691Ter)	SNV Germline	Chr8:41672379	Pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371053417	rs_2487635203	1 SubmittersRCV002291009
NM_000037.4(ANK1):c.1305+1G>A	SNV Germline	Chr8:41717603	Pathogenic	Hereditary spherocytosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA371039733	rs_2486928338	2 SubmittersRCV002291010
NM_000037.4(ANK1):c.1405-9G>A	SNV Germline	Chr8:41715858	Likely pathogenic	Hereditary spherocytosis type 1 ANK1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2580078348	rs_2486915489	5 SubmittersRCV002291011 RCV003916392
NM_000037.4(ANK1):c.1602+1G>C	SNV Germline	Chr8:41715651	Pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371069891	rs_2486913461	1 SubmittersRCV002291012
NM_000037.4(ANK1):c.3629+1G>C	SNV Unknown	Chr8:41693104	Pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371059060	rs_2486762991	1 SubmittersRCV002291013
NM_000342.4(SLC4A1):c.2165C>T (p.Pro722Leu)	SNV Germline	Chr17:44253264	Likely pathogenic	Hereditary spherocytosis type 4	Criteria Provided Single Submitter	CA399781677	rs_2509960984	1 SubmittersRCV002291015
NM_000342.4(SLC4A1):c.370C>T (p.Gln124Ter)	SNV Germline	Chr17:44260519	Pathogenic	Hereditary spherocytosis type 4	Criteria Provided Single Submitter	CA399795348	rs_1162787335	1 SubmittersRCV002291016
NM_000342.4(SLC4A1):c.331C>T (p.Arg111Cys)	SNV Germline	Chr17:44260653	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA8600642	rs_13306774	3 SubmittersRCV002291017 RCV003101250
NM_000342.4(SLC4A1):c.2116C>A (p.Leu706Met)	SNV Germline	Chr17:44253313	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 4 Condition: not provided 11 conditions	Criteria Provided Conflicting Classifications	CA8600115	rs_758335896	3 SubmittersRCV002291018 RCV003138099 RCV005008481
NM_000342.4(SLC4A1):c.2369G>A (p.Gly790Asp)	SNV Germline	Chr17:44251531	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA399781120	rs_2509958887	2 SubmittersRCV002291019 RCV003093866
NM_000037.4(ANK1):c.319C>T (p.Gln107Ter)	SNV Unknown	Chr8:41727916	Pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371046549	rs_2487001985	1 SubmittersRCV002291020
NM_000342.4(SLC4A1):c.2159G>T (p.Gly720Val)	SNV Germline	Chr17:44253270	Likely pathogenic	Hereditary spherocytosis type 4	Criteria Provided Single Submitter	CA399781690	rs_2509960998	1 SubmittersRCV002291021
NM_000342.4(SLC4A1):c.910C>T (p.Arg304Ter)	SNV Germline	Chr17:44258590	Pathogenic	Hereditary spherocytosis type 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA8600426	rs_757158425	2 SubmittersRCV002291022 RCV005232912
NM_003126.4(SPTA1):c.2768A>G (p.Asp923Gly)	SNV Germline	Chr1:158657514	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA343039907	rs_2101877463	2 SubmittersRCV002291025 RCV003138100
NM_003126.4(SPTA1):c.1700T>C (p.Leu567Pro)	SNV Germline	Chr1:158669541	Likely pathogenic	Hereditary spherocytosis type 3	Criteria Provided Single Submitter	CA343009073	rs_2525254041	1 SubmittersRCV002291026
NM_003126.4(SPTA1):c.4823G>A (p.Arg1608His)	SNV Germline	Chr1:158639922	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA1182548	rs_781244377	2 SubmittersRCV002291027 RCV004779264
NM_003126.4(SPTA1):c.5269C>T (p.Arg1757Cys)	SNV Germline	Chr1:158636682	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 3 SPTA1-related disorder	Criteria Provided Conflicting Classifications	CA1182373	rs_754598605	2 SubmittersRCV002291028 RCV004548241
NM_000037.4(ANK1):c.1365T>G (p.Tyr455Ter)	SNV Germline	Chr8:41716992	Pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371070734	rs_2486923136	1 SubmittersRCV002291029
NM_003126.4(SPTA1):c.4443-1G>A	SNV Germline	Chr1:158642977	Pathogenic	Hereditary spherocytosis type 3	Criteria Provided Single Submitter	CA343031064	rs_2525027053	1 SubmittersRCV002291031
NM_001355436.2(SPTB):c.146C>T (p.Ala49Val)	SNV Germline	Chr14:64822949	Likely pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter	CA390038167	rs_2503301874	1 SubmittersRCV002291032
NM_001355436.2(SPTB):c.3841C>T (p.Gln1281Ter)	SNV Germline	Chr14:64785551	Pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter	CA390045595	rs_2503119189	1 SubmittersRCV002291033
NM_001355436.2(SPTB):c.493C>T (p.Gln165Ter)	SNV Germline	Chr14:64802299	Pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter	CA390032935	rs_2139632398	1 SubmittersRCV002291034
NM_001355436.2(SPTB):c.5464G>T (p.Glu1822Ter)	SNV Germline	Chr14:64772669	Pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter	CA390040848	rs_763716590	1 SubmittersRCV002291036
NM_001355436.2(SPTB):c.472C>T (p.Gln158Ter)	SNV Germline	Chr14:64803609	Pathogenic/Likely pathogenic	Hereditary spherocytosis type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA390034243	rs_2503219666	2 SubmittersRCV002291038 RCV003130693
NM_001355436.2(SPTB):c.3351C>A (p.Tyr1117Ter)	SNV Germline	Chr14:64786614	Pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter	CA390046684	rs_1182150046	1 SubmittersRCV002291040
NM_001355436.2(SPTB):c.467G>C (p.Arg156Pro)	SNV Germline	Chr14:64803614	Pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter	CA390034260	rs_767566180	1 SubmittersRCV002291041
NM_001355436.2(SPTB):c.2659C>T (p.Gln887Ter)	SNV Germline	Chr14:64793004	Pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter	CA390015809	rs_2503156034	1 SubmittersRCV002291043
NM_001355436.2(SPTB):c.4417C>T (p.Gln1473Ter)	SNV Germline	Chr14:64779781	Pathogenic/Likely pathogenic	Hereditary spherocytosis type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA390044322	rs_2503090652	2 SubmittersRCV002291046 RCV004793742
NM_001355436.2(SPTB):c.85G>T (p.Glu29Ter)	SNV Germline	Chr14:64823010	Pathogenic	Hereditary spherocytosis type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA390038307	rs_777962458	2 SubmittersRCV002291049 RCV003688951
NM_001355436.2(SPTB):c.2165C>A (p.Ser722Ter)	SNV Germline	Chr14:64793498	Pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter	CA390018812	rs_150328574	1 SubmittersRCV002291051
NM_001355436.2(SPTB):c.4969G>T (p.Glu1657Ter)	SNV Unknown	Chr14:64774401	Pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter	CA390042903	rs_2503065505	1 SubmittersRCV002291053
NM_001355436.2(SPTB):c.4942C>T (p.Gln1648Ter)	SNV Germline	Chr14:64774428	Pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter	CA390043027	rs_2503065637	1 SubmittersRCV002291054
NM_001355436.2(SPTB):c.1591C>T (p.Gln531Ter)	SNV Germline	Chr14:64795390	Pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter	CA390022952	rs_2503173416	1 SubmittersRCV002291055
NM_001355436.2(SPTB):c.2521C>T (p.Gln841Ter)	SNV Germline	Chr14:64793142	Pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter	CA390016442	rs_2503157076	1 SubmittersRCV002291056
NM_001355436.2(SPTB):c.3855+1G>A	SNV Germline	Chr14:64785536	Pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter	CA390045560	rs_2503119018	1 SubmittersRCV002291057
NM_000037.4(ANK1):c.4204C>T (p.Gln1402Ter)	SNV Germline	Chr8:41688210	Pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371057726	rs_2486737128	1 SubmittersRCV002291058
NM_001355436.2(SPTB):c.151G>T (p.Glu51Ter)	SNV Germline	Chr14:64805088	Pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter	CA390036260	rs_751809792	1 SubmittersRCV002291059
NM_001355436.2(SPTB):c.5788G>T (p.Glu1930Ter)	SNV Unknown	Chr14:64770895	Pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter	CA390040151	rs_2503047710	1 SubmittersRCV002291060
NM_000037.4(ANK1):c.3298G>A (p.Val1100Ile)	SNV Germline	Chr8:41694621	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA4727921	rs_147741842	4 SubmittersRCV002227345 RCV005350927 RCV005095787
NM_000342.4(SLC4A1):c.1331C>A (p.Thr444Asn)	SNV Germline	Chr17:44257759	Conflicting classifications of pathogenicity	Renal tubular acidosis, distal, 4, with hemolytic anemia Condition: not provided Hereditary spherocytosis type 4	Criteria Provided Conflicting Classifications	CA8600298	rs_754973425	4 SubmittersRCV002463585 RCV003138131 RCV003388626
NM_000037.4(ANK1):c.3325C>T (p.Gln1109Ter)	SNV Germline	Chr8:41694594	Pathogenic/Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA371059728	rs_2150593157	2 SubmittersRCV002269806
NM_001355436.2(SPTB):c.474+1G>A	SNV Germline	Chr14:64803606	Likely pathogenic	Hereditary spherocytosis type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA390034217	rs_2503219644	2 SubmittersRCV002283831 RCV003491068
NM_001355436.2(SPTB):c.3082C>T (p.Gln1028Ter)	SNV Germline	Chr14:64786883	Likely pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter	CA390047282	rs_2503130656	1 SubmittersRCV002283991
NM_001355436.2(SPTB):c.5114G>A (p.Trp1705Ter)	SNV Germline	Chr14:64773284	Pathogenic	Hereditary spherocytosis type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA390041982	rs_2503060526	3 SubmittersRCV002287289 RCV004812440
NM_001355436.2(SPTB):c.5178+1G>A	SNV Germline	Chr14:64773219	Likely pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter	CA390041626	rs_2503060145	1 SubmittersRCV002290397
NM_000037.4(ANK1):c.814G>T (p.Glu272Ter)	SNV Germline	Chr8:41723220	Pathogenic	Condition: not provided Hereditary spherocytosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA371042186	rs_376057905	5 SubmittersRCV002598485 RCV003491129
NM_001355436.2(SPTB):c.3088G>T (p.Glu1030Ter)	SNV Germline	Chr14:64786877	Pathogenic/Likely pathogenic	Condition: not provided Elliptocytosis 3 Hereditary spherocytosis type 2	Criteria Provided Multiple Submitters No Conflicts	CA390047267	rs_757425728	2 SubmittersRCV002807152 RCV005008761
NM_001355436.2(SPTB):c.189G>A (p.Trp63Ter)	SNV Germline	Chr14:64805050	Pathogenic	Condition: not provided Hereditary spherocytosis type 2	Criteria Provided Multiple Submitters No Conflicts	CA390036130	rs_2503227366	2 SubmittersRCV002816415 RCV003989787
NM_001114134.2(EPB42):c.2044G>A (p.Val682Ile)	SNV Germline	Chr15:43197334	Conflicting classifications of pathogenicity	Condition: not provided EPB42-related disorder Hereditary spherocytosis type 5	Criteria Provided Conflicting Classifications	CA7520137	rs_149419129	5 SubmittersRCV002903341 RCV003936347 RCV003146661
NM_000037.4(ANK1):c.3925C>T (p.Gln1309Ter)	SNV Germline	Chr8:41690533	Pathogenic	Condition: not provided Hereditary spherocytosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA371058353	rs_2486750606	2 SubmittersRCV003030796 RCV005254663
NM_000037.4(ANK1):c.1150G>A (p.Val384Ile)	SNV Germline	Chr8:41718162	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA4728718	rs_200898069	3 SubmittersRCV003140157 RCV002727473 RCV004585004
NM_001114134.2(EPB42):c.1280G>A (p.Arg427His)	SNV Germline	Chr15:43207237	Conflicting classifications of pathogenicity	Inborn genetic diseases Hereditary spherocytosis type 5	Criteria Provided Conflicting Classifications	CA7520372	rs_377673168	2 SubmittersRCV002968642 RCV003143559
NM_000037.4(ANK1):c.2296-2A>C	SNV Germline	Chr8:41702146	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371065544	rs_2486823536	1 SubmittersRCV003120304
NM_000037.4(ANK1):c.1972C>T (p.Gln658Ter)	SNV Germline	Chr8:41708804	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371067645	rs_767398317	1 SubmittersRCV003133904
NM_000037.4(ANK1):c.3073G>T (p.Gly1025Ter)	SNV Germline	Chr8:41695219	Pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371061182	rs_1586167794	1 SubmittersRCV003134995
NM_000037.4(ANK1):c.5044C>T (p.Arg1682Ter)	SNV Germline	Chr8:41672406	Pathogenic	ANK1-related disorder Hereditary spherocytosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA371053510	rs_2487635534	5 SubmittersRCV003395707 RCV003132022
NM_000037.4(ANK1):c.3754C>T (p.Arg1252Ter)	SNV Germline	Chr8:41692752	Pathogenic	Hereditary spherocytosis type 1 Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA371058778	rs_1819628292	5 SubmittersRCV003135005 RCV003561183 RCV004636717
NM_000037.4(ANK1):c.5097-33G>A	SNV Germline	Chr8:41668597	Pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA1779071413	rs_1811286829	1 SubmittersRCV003135006
NM_000037.4(ANK1):c.612+1G>C	SNV Germline	Chr8:41725760	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371044276	rs_2486986598	1 SubmittersRCV003135640
NM_000037.4(ANK1):c.5096+2T>G	SNV Germline	Chr8:41672352	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371053289	rs_2487634896	1 SubmittersRCV003133690
NM_000037.4(ANK1):c.1900C>T (p.Gln634Ter)	SNV Germline	Chr8:41708876	Pathogenic/Likely pathogenic	Hereditary spherocytosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA371067867	rs_2486869276	2 SubmittersRCV003147255 RCV003575043
NM_000037.4(ANK1):c.3859-2A>G	SNV Germline	Chr8:41690601	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371058496	rs_2486751066	1 SubmittersRCV003143997
NM_000037.4(ANK1):c.4771G>T (p.Glu1591Ter)	SNV Germline	Chr8:41672679	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371054329	rs_2487638391	1 SubmittersRCV003144028
NM_000037.4(ANK1):c.3550C>T (p.Gln1184Ter)	SNV Germline	Chr8:41693184	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371059238	rs_2486763479	1 SubmittersRCV003143448
NM_000037.4(ANK1):c.3763C>T (p.Arg1255Cys)	SNV Germline	Chr8:41692743	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA4727784	rs_148275567	3 SubmittersRCV003141410 RCV004809971
NM_000037.4(ANK1):c.2296-2A>G	SNV Germline	Chr8:41702146	Pathogenic/Likely pathogenic	Hereditary spherocytosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA371065542	rs_2486823536	4 SubmittersRCV003130948 RCV004790482
NM_000037.4(ANK1):c.1585C>T (p.Gln529Ter)	SNV Germline	Chr8:41715669	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371069967	rs_2486913654	1 SubmittersRCV003135414
NM_000037.4(ANK1):c.3533-2A>G	SNV Germline	Chr8:41693203	Pathogenic/Likely pathogenic	Hereditary spherocytosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA371059278	rs_2486763550	3 SubmittersRCV003135524 RCV005099295
NM_000037.4(ANK1):c.3777C>G (p.Tyr1259Ter)	SNV Germline	Chr8:41692729	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371058733	rs_1376266690	1 SubmittersRCV003133983
NM_000037.4(ANK1):c.4184-2A>G	SNV Germline	Chr8:41688232	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371057775	rs_2486737272	1 SubmittersRCV003134014
NM_000037.4(ANK1):c.3630-1G>A	SNV Germline	Chr8:41692877	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371059052	rs_2486761002	1 SubmittersRCV003134029
NM_000037.4(ANK1):c.4259-1G>T	SNV Germline	Chr8:41686284	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA371057591	rs_2486729264	2 SubmittersRCV003134090 RCV003481451
NM_001355436.2(SPTB):c.1465G>T (p.Glu489Ter)	SNV Germline	Chr14:64795516	Likely pathogenic	Hereditary spherocytosis type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA390023838	rs_762902447	2 SubmittersRCV003152886 RCV004790493
NM_000037.4(ANK1):c.2632G>T (p.Glu878Ter)	SNV Unknown	Chr8:41698048	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371063240	rs_1821604564	1 SubmittersRCV003234618
NM_000037.4(ANK1):c.1638C>A (p.Tyr546Ter)	SNV Germline	Chr8:41715039	Likely pathogenic	Hereditary spherocytosis	Criteria Provided Single Submitter	CA371069677	rs_771419825	1 SubmittersRCV003234637
NM_000175.5(GPI):c.283-2A>G	SNV Germline	Chr19:34368581	Likely pathogenic	Hereditary spherocytosis	Criteria Provided Single Submitter	CA405248684	rs_2513787109	1 SubmittersRCV003234639
NM_001355436.2(SPTB):c.5953C>T (p.Gln1985Ter)	SNV Germline	Chr14:64769103	Likely pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter	CA390039767	rs_2503038679	1 SubmittersRCV003314501
NM_000037.4(ANK1):c.5096+1G>A	SNV Unknown	Chr8:41672353	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371053295	rs_2487634907	1 SubmittersRCV003330267
NM_001355436.2(SPTB):c.647+1G>A	SNV Germline	Chr14:64801753	Likely pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter	CA390031876	rs_2503210409	1 SubmittersRCV003340828
NM_001355436.2(SPTB):c.2137C>T (p.Gln713Ter)	SNV Germline	Chr14:64793526	Likely pathogenic	Hereditary spherocytosis type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA390018943	rs_2503160354	2 SubmittersRCV003337902 RCV003491366
NM_001355436.2(SPTB):c.4843-1G>C	SNV Germline	Chr14:64774528	Likely pathogenic	Hereditary spherocytosis type 2	No Assertion Criteria Provided	CA390043369	rs_2503066387	1 SubmittersRCV003388267
NM_001355436.2(SPTB):c.1921A>T (p.Lys641Ter)	SNV Germline	Chr14:64793742	Likely pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter	CA390020507	rs_2503162325	1 SubmittersRCV003388808
NM_000037.4(ANK1):c.3050G>C (p.Trp1017Ser)	SNV Germline	Chr8:41695242	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371061327	rs_2486776816	1 SubmittersRCV003448530
NM_000037.4(ANK1):c.3050G>A (p.Trp1017Ter)	SNV Germline	Chr8:41695242	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371061331	rs_2486776816	1 SubmittersRCV003489295
NM_000037.4(ANK1):c.613-1G>A	SNV Germline	Chr8:41724555	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371043615	rs_2486976789	1 SubmittersRCV003489297
NM_000037.4(ANK1):c.5500C>T (p.Gln1834Ter)	SNV Germline	Chr8:41661920	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371047223	rs_1218976308	1 SubmittersRCV003489298
NM_000037.4(ANK1):c.2296-1G>A	SNV Germline	Chr8:41702145	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371065535	rs_2486823524	1 SubmittersRCV003489301
NM_000037.4(ANK1):c.341C>T (p.Pro114Leu)	SNV Germline	Chr8:41727335	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371045425	rs_2486997588	1 SubmittersRCV003489305
NM_000037.4(ANK1):c.1930C>T (p.Gln644Ter)	SNV Germline	Chr8:41708846	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371067735	rs_2486869082	1 SubmittersRCV003489306
NM_000037.4(ANK1):c.2389-2A>G	SNV Germline	Chr8:41701624	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371065122	rs_761708703	1 SubmittersRCV003489308
NM_000037.4(ANK1):c.4391-1G>C	SNV Germline	Chr8:41684691	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371057279	rs_2486722467	1 SubmittersRCV003489309
NM_000037.4(ANK1):c.1933G>T (p.Glu645Ter)	SNV Germline	Chr8:41708843	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371067725	rs_2150621717	1 SubmittersRCV003489322
NM_000037.4(ANK1):c.1537G>T (p.Glu513Ter)	SNV Germline	Chr8:41715717	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371070118	rs_2486914036	1 SubmittersRCV003489323
NM_000037.4(ANK1):c.810+1G>A	SNV Germline	Chr8:41723534	Likely pathogenic	Hereditary spherocytosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA175915637	rs_867073059	2 SubmittersRCV003489324 RCV005100325
NM_000037.4(ANK1):c.910-2A>G	SNV Germline	Chr8:41719860	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371041462	rs_2486944833	1 SubmittersRCV003489326
NM_000037.4(ANK1):c.1657G>T (p.Glu553Ter)	SNV Germline	Chr8:41715020	Pathogenic	Hereditary spherocytosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA371069641	rs_1827231890	2 SubmittersRCV003741359 RCV003563127
NM_000037.4(ANK1):c.3984+1G>T	SNV Germline	Chr8:41690473	Pathogenic/Likely pathogenic	Condition: not provided Hereditary spherocytosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA371058221	rs_2486750141	2 SubmittersRCV003569146 RCV003741360
NM_000037.4(ANK1):c.1207-6T>C	SNV Germline	Chr8:41717708	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA4728681	rs_541269643	2 SubmittersRCV003741135 RCV005063157
NM_000037.4(ANK1):c.325C>T (p.Gln109Ter)	SNV Germline	Chr8:41727910	Pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371046508	rs_2487001941	1 SubmittersRCV003741136
NM_000037.4(ANK1):c.5530C>T (p.Gln1844Ter)	SNV Germline	Chr8:41661890	Pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371046885	rs_2487538167	1 SubmittersRCV003741146
NM_000037.4(ANK1):c.427-2A>G	SNV Germline	Chr8:41725948	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371044846	rs_2486988534	1 SubmittersRCV003741617
NM_001355436.2(SPTB):c.545G>A (p.Trp182Ter)	SNV Germline	Chr14:64802247	Likely pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter	CA390032529	rs_2503213570	1 SubmittersRCV003986007
NM_000037.4(ANK1):c.895C>T (p.Gln299Ter)	SNV Germline	Chr8:41723139	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter	CA371041830	rs_2486962860	1 SubmittersRCV003991843
NM_001355436.2(SPTB):c.3829C>T (p.Gln1277Ter)	SNV Unknown	Chr14:64785563	Likely pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter		rs_2503119393	1 SubmittersRCV004577053
NM_000037.4(ANK1):c.1624G>A (p.Val542Met)	SNV Germline	Chr8:41715053	Conflicting classifications of pathogenicity	Hereditary spherocytosis type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV004698726 RCV004987187
NM_000037.4(ANK1):c.3112G>T (p.Glu1038Ter)	SNV Germline	Chr8:41695180	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV004723684
NM_001355436.2(SPTB):c.4473+1G>A	SNV Germline	Chr14:64779724	Likely pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter			1 SubmittersRCV004764423
NM_000037.4(ANK1):c.3072T>A (p.Tyr1024Ter)	SNV Unknown	Chr8:41695220	Likely pathogenic	Hereditary spherocytosis	Criteria Provided Single Submitter			1 SubmittersRCV004765097
NM_000037.4(ANK1):c.3553T>A (p.Trp1185Arg)	SNV Germline	Chr8:41693181	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV004771573
NM_001355436.2(SPTB):c.2617G>T (p.Glu873Ter)	SNV Germline	Chr14:64793046	Likely pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter			1 SubmittersRCV004797083
NM_000037.4(ANK1):c.2230C>T (p.Gln744Ter)	SNV Germline	Chr8:41704106	Pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV004797342
NM_003126.4(SPTA1):c.2167C>T (p.Gln723Ter)	SNV Germline	Chr1:158666369	Likely pathogenic	Hereditary spherocytosis type 3 Elliptocytosis 2 Pyropoikilocytosis, hereditary	Criteria Provided Single Submitter			1 SubmittersRCV004797363
NM_001355436.2(SPTB):c.3352C>T (p.Gln1118Ter)	SNV Germline	Chr14:64786613	Likely pathogenic	Hereditary spherocytosis type 2 Elliptocytosis 3	Criteria Provided Single Submitter			1 SubmittersRCV004796442
NM_000037.4(ANK1):c.4253G>A (p.Trp1418Ter)	SNV Germline	Chr8:41688161	Pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV004796462
NM_001355436.2(SPTB):c.3055C>T (p.Gln1019Ter)	SNV Germline	Chr14:64786910	Pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter			1 SubmittersRCV004796503
NM_000037.4(ANK1):c.2637G>T (p.Gln879His)	SNV Germline	Chr8:41698043	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV004813521
NM_000037.4(ANK1):c.274G>T (p.Glu92Ter)	SNV Germline	Chr8:41727961	Pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV004819941
NM_001114134.2(EPB42):c.775C>T (p.Arg259Ter)	SNV Germline	Chr15:43209331	Likely pathogenic	Hereditary spherocytosis type 5	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005009592
NM_000037.4(ANK1):c.1273C>T (p.Gln425Ter)	SNV Germline	Chr8:41717636	Pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV005041217
NM_000037.4(ANK1):c.5162G>A (p.Trp1721Ter)	SNV Germline	Chr8:41668499	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV005054517
NM_000037.4(ANK1):c.811-2A>G	SNV Germline	Chr8:41723225	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV005234277
NM_000037.4(ANK1):c.3116-2A>G	SNV Germline	Chr8:41694805	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV005234598
NM_000037.4(ANK1):c.427-1G>A	SNV Germline	Chr8:41725947	Pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV005252317
NM_001355436.2(SPTB):c.376C>T (p.Gln126Ter)	SNV Germline	Chr14:64803705	Likely pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter			1 SubmittersRCV005253381
NM_003126.4(SPTA1):c.1112+2T>C	SNV Germline	Chr1:158676139	Likely pathogenic	Hereditary spherocytosis type 3	Criteria Provided Single Submitter			1 SubmittersRCV005254236
NM_000037.4(ANK1):c.1800G>A (p.Trp600Ter)	SNV Germline	Chr8:41714156	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV005407480
NM_000037.4(ANK1):c.5359C>T (p.Gln1787Ter)	SNV Germline	Chr8:41668302	Likely pathogenic	Hereditary spherocytosis type 1	Criteria Provided Single Submitter			1 SubmittersRCV005407481
NM_001355436.2(SPTB):c.5312G>A (p.Trp1771Ter)	SNV Germline	Chr14:64772821	Likely pathogenic	Hereditary spherocytosis type 2	Criteria Provided Single Submitter			1 SubmittersRCV005415358

NM_000037.4(ANK1):c.5005G>T (p.Glu1669Ter)

SNV
Germline

Chr8:41672445

Pathogenic

Hereditary spherocytosis type 1

No Assertion Criteria Provided

CA114336

rs_137852829

1 SubmittersRCV000000535

NG_012820.2(ANK1):g.104117T>C

SNV
Germline

Chr8:41797646

Conflicting classifications of pathogenicity

SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE
Hereditary spherocytosis type 1
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA212744

rs_77173848

6 SubmittersRCV000000536 RCV000988052 RCV001777127 RCV003482222

NM_000037.4(ANK1):c.5163G>A (p.Trp1721Ter)

SNV
Germline

Chr8:41668498

Pathogenic

Hereditary spherocytosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA114339

rs_137852830

3 SubmittersRCV000000538 RCV004791185

NM_000037.4(ANK1):c.5497C>T (p.Arg1833Ter)

SNV
Germline

Chr8:41661923

Pathogenic/Likely pathogenic

Hereditary spherocytosis type 1
Condition: not provided
ANK1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA114342

rs_137852831

7 SubmittersRCV000000539 RCV001508610 RCV003398399

NM_000037.4(ANK1):c.1801-17G>A

SNV
Germline

Chr8:41708992

Pathogenic/Likely pathogenic

SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE
Hereditary spherocytosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA212747

rs_786205243

7 SubmittersRCV000000542 RCV000655898 RCV001091597

NM_001355436.2(SPTB):c.604T>C (p.Trp202Arg)

SNV
Germline

Chr14:64801797

Pathogenic

Hereditary spherocytosis type 2

No Assertion Criteria Provided

CA122736

rs_121918646

1 SubmittersRCV000013684

NM_001355436.2(SPTB):c.6055T>C (p.Ser2019Pro)

SNV
Germline

Chr14:64767827

Pathogenic/Likely pathogenic

Elliptocytosis 3
Hereditary spherocytosis type 2
Condition: not provided
SPTB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA122740

rs_121918648

5 SubmittersRCV000013688 RCV001004906 RCV002513020 RCV004724739

NM_001355436.2(SPTB):c.6074T>G (p.Leu2025Arg)

SNV
Germline

Chr14:64767808

Conflicting classifications of pathogenicity

ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL
Hereditary spherocytosis type 2
Condition: not provided
SPTB-related disorder

Criteria Provided
Conflicting Classifications

CA122743

rs_121918649

4 SubmittersRCV000013691 RCV001004904 RCV003129752 RCV004745156

NM_001355436.2(SPTB):c.1A>G (p.Met1Val)

SNV
Germline

Chr14:64823094

Pathogenic/Likely pathogenic

Hereditary spherocytosis type 2
not specified
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA210952

rs_121918651

4 SubmittersRCV000013693 RCV001000731 RCV001781258

NM_001355436.2(SPTB):c.5266C>T (p.Arg1756Ter)

SNV
Germline

Chr14:64772867

Pathogenic

Hereditary spherocytosis type 2
Condition: not provided
Elliptocytosis 3
Hereditary spherocytosis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA210954

rs_267607086

9 SubmittersRCV000013696 RCV001508363 RCV005007841

NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu)

SNV
Germline

Chr1:158662793

Conflicting classifications of pathogenicity

Elliptocytosis 2
Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Condition: not provided
Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Elliptocytosis 2
not specified

Criteria Provided
Conflicting Classifications

CA122762

rs_7418956

7 SubmittersRCV000013717 RCV000345657 RCV000404574 RCV001508911 RCV005394149 RCV004017236

NM_003126.2(SPTA1):c.5190_5310del

SNV
Germline

Chr1:158636763

Pathogenic

Hereditary spherocytosis type 3

No Assertion Criteria Provided

CA358598

rs_754614154

1 SubmittersRCV000013723

NM_000119.2(EPB42):c.424G>A (p.Ala142Thr)

SNV
Germline

Chr15:43215191

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 5
EPB42-related disorder

Criteria Provided
Conflicting Classifications

CA341253

rs_104894487

4 SubmittersRCV000014138 RCV003415697

NM_000119.2(EPB42):c.929G>A (p.Arg310Gln)

SNV
Germline

Chr15:43208769

Likely pathogenic

Hereditary spherocytosis type 5

Criteria Provided
Single Submitter

CA341255

rs_121917734

3 SubmittersRCV000014140

NM_000119.2(EPB42):c.922+1G>A

SNV
Germline

Chr15:43209273

Pathogenic

Hereditary spherocytosis type 5

No Assertion Criteria Provided

CA256740

rs_266257355

1 SubmittersRCV000014141

NM_000119.2(EPB42):c.1747G>T (p.Glu583Ter)

SNV
Germline

Chr15:43203237

Pathogenic

Hereditary spherocytosis type 5

No Assertion Criteria Provided

CA256741

rs_115998465

1 SubmittersRCV000014142

NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg)

SNV
Germline

Chr17:44258520

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA127374

rs_28931583

6 SubmittersRCV000019332 RCV001811190

NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys)

SNV
Germline

Chr17:44261625

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 4
Hemolytic anemia
Cryohydrocytosis
Condition: not provided
Autosomal dominant distal renal tubular acidosis
Distal renal tubular acidosis
SLC4A1-related disorder

Criteria Provided
Conflicting Classifications

CA127375

rs_45562031

13 SubmittersRCV000019333 RCV000298897 RCV000494697 RCV000512811 RCV001127848 RCV003993746 RCV004549379

NM_000342.4(SLC4A1):c.1972G>A (p.Glu658Lys)

SNV
Germline

Chr17:44254581

Conflicting classifications of pathogenicity

Autosomal dominant distal renal tubular acidosis
Hemolytic anemia
Condition: not provided
Hereditary spherocytosis type 4
BLOOD GROUP--WRIGHT ANTIGEN
11 conditions
not specified

Criteria Provided
Conflicting Classifications

CA127380

rs_75731670

6 SubmittersRCV001125390 RCV001125391 RCV001201773 RCV001125389 RCV000019336 RCV005007878 RCV005406750

NM_000342.3(SLC4A1):c.2312G>A (p.Gly771Asp)

SNV
Germline

Chr17:44251588

Pathogenic

Hereditary spherocytosis type 4

No Assertion Criteria Provided

CA127382

rs_121912741

1 SubmittersRCV000019337

NM_000342.3(SLC4A1):c.988C>T (p.Gln330Ter)

SNV
Germline

Chr17:44258512

Pathogenic

Hereditary spherocytosis type 4

No Assertion Criteria Provided

CA127383

rs_121912742

1 SubmittersRCV000019338

NM_000342.3(SLC4A1):c.448C>T (p.Arg150Ter)

SNV
Germline

Chr17:44260441

Pathogenic

Hereditary spherocytosis type 4
11 conditions
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA127385

rs_56361140

6 SubmittersRCV000019339 RCV005007879 RCV002514115

NM_000342.3(SLC4A1):c.388G>A (p.Gly130Arg)

SNV
Germline

Chr17:44260501

Conflicting classifications of pathogenicity

Autosomal dominant distal renal tubular acidosis
Hereditary spherocytosis type 4
11 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA127394

rs_121912749

4 SubmittersRCV001121978 RCV000019346 RCV005007881 RCV003546457

NM_000342.3(SLC4A1):c.2509A>G (p.Thr837Ala)

SNV
Germline

Chr17:44251305

Pathogenic

Hereditary spherocytosis type 4

No Assertion Criteria Provided

CA127395

rs_121912750

1 SubmittersRCV000019347

NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met)

SNV
Germline

Chr17:44257514

Pathogenic/Likely pathogenic

Renal tubular acidosis, distal, 4, with hemolytic anemia
Condition: not provided
Hereditary spherocytosis type 4
11 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA127399

rs_28931584

8 SubmittersRCV001254881 RCV001851941 RCV000019350 RCV002496417

NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp)

SNV
Germline

Chr17:44251206

Pathogenic/Likely pathogenic

Hereditary spherocytosis type 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA127403

rs_28931585

6 SubmittersRCV000019354 RCV001093444

NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln)

SNV
Germline

Chr17:44253150

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spherocytosis type 4
11 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA210834

rs_121912755

6 SubmittersRCV002227042 RCV000019358 RCV005007883

NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln)

SNV
Germline

Chr17:44254616

Conflicting classifications of pathogenicity

not specified
Hereditary spherocytosis type 4
Autosomal dominant distal renal tubular acidosis
Hemolytic anemia
Condition: not provided
SWANN BLOOD GROUP ANTIGEN

Criteria Provided
Conflicting Classifications

CA127408

rs_121912757

6 SubmittersRCV001001070 RCV001127476 RCV001127475 RCV001127477 RCV001507896 RCV000019360

NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu)

SNV
Germline

Chr17:44251211

Conflicting classifications of pathogenicity

Acanthocytosis due to band 3 HT
Acanthocytosis
Hemolytic anemia
Hereditary spherocytosis type 4
Autosomal dominant distal renal tubular acidosis
Condition: not provided
not specified
SLC4A1-related disorder

Criteria Provided
Conflicting Classifications

CA127410

rs_121912759

9 SubmittersRCV000019361 RCV000991183 RCV001126941 RCV001124275 RCV001126942 RCV002054448 RCV002247370 RCV004549382

NM_000342.4(SLC4A1):c.2701C>T (p.Arg901Trp)

SNV
Germline

Chr17:44250493

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 4
Hemolytic anemia
Autosomal dominant distal renal tubular acidosis

Criteria Provided
Conflicting Classifications

CA216108

rs_201265160

6 SubmittersRCV000054610 RCV000306677 RCV000391446 RCV000346002

NM_001114134.2(EPB42):c.433G>T (p.Asp145Tyr)

SNV
Germline

Chr15:43211532

Pathogenic

Hereditary spherocytosis type 5

Criteria Provided
Single Submitter

CA345651

rs_143682977

2 SubmittersRCV000119050

NM_001114134.2(EPB42):c.859C>T (p.Arg287Cys)

SNV
Germline

Chr15:43208749

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 5
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA345655

rs_515726212

4 SubmittersRCV000119052 RCV001508386 RCV003488394

NM_001114134.2(EPB42):c.1609G>A (p.Ala537Thr)

SNV
Germline

Chr15:43206339

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA345658

rs_45495503

4 SubmittersRCV000258852 RCV001508383

NM_001355436.2(SPTB):c.1795+1G>A

SNV
Germline

Chr14:64794466

Pathogenic

Hereditary spherocytosis type 2
Condition: not provided

Criteria Provided
Single Submitter

CA211130

rs_786204766

2 SubmittersRCV000169630 RCV001781529

NM_001355436.2(SPTB):c.5455G>T (p.Glu1819Ter)

SNV
Germline

Chr14:64772678

Likely pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

CA7229963

rs_200386310

1 SubmittersRCV000490389

NM_000037.4(ANK1):c.2495G>A (p.Arg832Gln)

SNV
Germline

Chr8:41699515

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 1
Spherocytosis

Criteria Provided
Conflicting Classifications

CA4728201

rs_34523608

4 SubmittersRCV000224849 RCV000385550 RCV001165099

NM_003126.4(SPTA1):c.6531-12C>T

SNV
Germline

Chr1:158618068

Conflicting classifications of pathogenicity

not specified
Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Elliptocytosis 2
Condition: not provided
Hemolytic anemia

Criteria Provided
Conflicting Classifications

CA1181949

rs_28525570

8 SubmittersRCV000249337 RCV000296410 RCV000344309 RCV000388225 RCV001610635 RCV001003793

NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg)

SNV
Germline

Chr1:158619315

Conflicting classifications of pathogenicity

not specified
Elliptocytosis 2
Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1181979

rs_138055271

6 SubmittersRCV000244790 RCV000395816 RCV000302916 RCV000359954 RCV000756690

NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val)

SNV
Germline

Chr1:158627717

Conflicting classifications of pathogenicity

not specified
Elliptocytosis 2
Hemolytic anemia
Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Condition: not provided
Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Elliptocytosis 2

Criteria Provided
Conflicting Classifications

CA1182251

rs_3737515

12 SubmittersRCV000247499 RCV000304497 RCV001003794 RCV000361633 RCV000395775 RCV001731550 RCV005396851

NM_003126.4(SPTA1):c.5118C>T (p.His1706=)

SNV
Germline

Chr1:158638104

Conflicting classifications of pathogenicity

not specified
Pyropoikilocytosis, hereditary
Elliptocytosis 2
Hereditary spherocytosis type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1182421

rs_200945419

4 SubmittersRCV000242204 RCV000285325 RCV000315881 RCV000379676 RCV002058133

NM_003126.4(SPTA1):c.4490G>A (p.Gly1497Glu)

SNV
Germline

Chr1:158642929

Conflicting classifications of pathogenicity

not specified
Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Elliptocytosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1182673

rs_41273523

7 SubmittersRCV000251009 RCV000303619 RCV000397152 RCV000358604 RCV001507482

NM_003126.4(SPTA1):c.4453C>T (p.Leu1485Phe)

SNV
Germline

Chr1:158642966

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
not specified
Pyropoikilocytosis, hereditary
Elliptocytosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1182681

rs_34973695

5 SubmittersRCV000328386 RCV000254479 RCV000273231 RCV000364331 RCV000755398

NM_003126.4(SPTA1):c.3960C>T (p.Asp1320=)

SNV
Germline

Chr1:158645531

Conflicting classifications of pathogenicity

not specified
Pyropoikilocytosis, hereditary
Condition: not provided
Hereditary spherocytosis type 3
Elliptocytosis 2

Criteria Provided
Conflicting Classifications

CA1182879

rs_186415745

4 SubmittersRCV000244199 RCV001099281 RCV000891236 RCV001097517 RCV001099280

NM_003126.4(SPTA1):c.3477+15C>T

SNV
Germline

Chr1:158651352

Conflicting classifications of pathogenicity

not specified
Elliptocytosis 2
Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1183050

rs_369904982

3 SubmittersRCV000246583 RCV000271973 RCV000329462 RCV000378108 RCV002519915

NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys)

SNV
Germline

Chr1:158667938

Conflicting classifications of pathogenicity

not specified
Hereditary spherocytosis type 3
Elliptocytosis 2
Pyropoikilocytosis, hereditary
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1183560

rs_148912436

7 SubmittersRCV000249178 RCV000268090 RCV000323182 RCV000381211 RCV000756691

NM_003126.4(SPTA1):c.1078A>T (p.Thr360Ser)

SNV
Germline

Chr1:158676175

Conflicting classifications of pathogenicity

not specified
Elliptocytosis 2
Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1183923

rs_34133563

5 SubmittersRCV000248680 RCV000267684 RCV000325111 RCV000382110 RCV000966764

NM_000037.4(ANK1):c.5544+91C>T

SNV
Germline

Chr8:41661785

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spherocytosis type 1

Criteria Provided
Conflicting Classifications

CA4727116

rs_72638959

6 SubmittersRCV000253589 RCV001508609 RCV000988051

NM_000037.4(ANK1):c.4974C>T (p.Asp1658=)

SNV
Germline

Chr8:41672476

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
not specified
Condition: not provided
Spherocytosis

Criteria Provided
Conflicting Classifications

CA4727414

rs_149859024

5 SubmittersRCV000282509 RCV000247478 RCV000969890 RCV001164659

NM_000037.4(ANK1):c.4008G>A (p.Pro1336=)

SNV
Germline

Chr8:41690323

Conflicting classifications of pathogenicity

not specified
Hereditary spherocytosis type 1
Spherocytosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4727703

rs_147536061

4 SubmittersRCV000247698 RCV001000209 RCV001159844 RCV002058300

NM_000037.4(ANK1):c.2960+13G>T

SNV
Germline

Chr8:41696350

Conflicting classifications of pathogenicity

not specified
Hereditary spherocytosis type 1
Spherocytosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4728036

rs_200746947

3 SubmittersRCV000245467 RCV000270233 RCV001160078 RCV003765541

NM_000037.4(ANK1):c.2196+6G>A

SNV
Germline

Chr8:41704368

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spherocytosis
Hereditary spherocytosis type 1

Criteria Provided
Conflicting Classifications

CA4728337

rs_200761553

5 SubmittersRCV000254082 RCV000909219 RCV001158388 RCV001158389

NM_000037.4(ANK1):c.1590C>T (p.Ala530=)

SNV
Germline

Chr8:41715664

Conflicting classifications of pathogenicity

not specified
Hereditary spherocytosis type 1
Condition: not provided
Spherocytosis

Criteria Provided
Conflicting Classifications

CA4728574

rs_61758865

5 SubmittersRCV000252683 RCV000319695 RCV000970680 RCV001165205

NM_000037.4(ANK1):c.1506C>T (p.Ala502=)

SNV
Germline

Chr8:41715748

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spherocytosis type 1
Spherocytosis

Criteria Provided
Conflicting Classifications

CA4728595

rs_34387324

5 SubmittersRCV000246717 RCV000879423 RCV001158497 RCV001158496

NM_000037.4(ANK1):c.1484A>G (p.Asn495Ser)

SNV
Germline

Chr8:41715770

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spherocytosis type 1
Spherocytosis

Criteria Provided
Conflicting Classifications

CA4728601

rs_142690258

4 SubmittersRCV000241940 RCV000911518 RCV001161705 RCV001161704

NM_000037.4(ANK1):c.237C>T (p.Asn79=)

SNV
Germline

Chr8:41727998

Conflicting classifications of pathogenicity

not specified
Hereditary spherocytosis type 1
Condition: not provided
Spherocytosis

Criteria Provided
Conflicting Classifications

CA4729042

rs_372696694

4 SubmittersRCV000248603 RCV000336765 RCV000900022 RCV001158833

NM_001114134.2(EPB42):c.1279C>T (p.Arg427Cys)

SNV
Germline

Chr15:43207238

Conflicting classifications of pathogenicity

not specified
Hereditary spherocytosis type 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7520373

rs_45594632

6 SubmittersRCV000249237 RCV000296485 RCV000899320

NM_001114134.2(EPB42):c.1032T>C (p.Asp344=)

SNV
Germline

Chr15:43208273

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 5
Condition: not provided
EPB42-related disorder

Criteria Provided
Conflicting Classifications

CA7520420

rs_150481419

3 SubmittersRCV000359912 RCV003409372 RCV003891833

NM_001114134.2(EPB42):c.894C>T (p.Thr298=)

SNV
Germline

Chr15:43208714

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spherocytosis type 5

Criteria Provided
Conflicting Classifications

CA7520469

rs_35719500

5 SubmittersRCV000242547 RCV000971039 RCV001120392

NM_001114134.2(EPB42):c.453T>C (p.Asn151=)

SNV
Germline

Chr15:43211512

Conflicting classifications of pathogenicity

not specified
Hereditary spherocytosis type 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7520606

rs_114136713

4 SubmittersRCV000249878 RCV000329505 RCV000889760

NM_001114134.2(EPB42):c.10+79G>A

SNV
Germline

Chr15:43220737

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spherocytosis type 5

Criteria Provided
Conflicting Classifications

CA7520721

rs_149249456

5 SubmittersRCV000247648 RCV000909752 RCV001116918

NM_000342.4(SLC4A1):c.539G>A (p.Arg180His)

SNV
Germline

Chr17:44259879

Conflicting classifications of pathogenicity

not specified
Autosomal dominant distal renal tubular acidosis
Renal tubular acidosis, distal, 4, with hemolytic anemia
Hereditary spherocytosis type 4
Condition: not provided
Hereditary spherocytosis type 4
Hemolytic anemia
Autosomal dominant distal renal tubular acidosis
Autosomal dominant distal renal tubular acidosis
Renal tubular acidosis, distal, 4, with hemolytic anemia

Criteria Provided
Conflicting Classifications

CA8600562

rs_147390654

11 SubmittersRCV000253978 RCV000709888 RCV000756654 RCV001127762 RCV001127763 RCV001127764 RCV005624347

NM_003126.4(SPTA1):c.7068A>C (p.Glu2356Asp)

SNV
Germline

Chr1:158612883

Conflicting classifications of pathogenicity

Pyropoikilocytosis, hereditary
Elliptocytosis 2
Condition: not provided
Hereditary spherocytosis type 3

Criteria Provided
Conflicting Classifications

CA1181738

rs_78598639

4 SubmittersRCV000304881 RCV000355023 RCV001248301 RCV000398747

NM_003126.4(SPTA1):c.6889C>T (p.Arg2297Trp)

SNV
Germline

Chr1:158613821

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Elliptocytosis 2
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1181790

rs_375016862

4 SubmittersRCV000276563 RCV000326856 RCV000384468 RCV004021362 RCV002522060

NM_003126.4(SPTA1):c.6132G>C (p.Leu2044=)

SNV
Germline

Chr1:158620455

Conflicting classifications of pathogenicity

Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Elliptocytosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1182059

rs_186987240

5 SubmittersRCV000283382 RCV000340796 RCV000378935 RCV000891444

NM_003126.4(SPTA1):c.5410C>T (p.Leu1804Phe)

SNV
Germline

Chr1:158635935

Conflicting classifications of pathogenicity

Elliptocytosis 2
Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1182314

rs_116959874

3 SubmittersRCV000281691 RCV000336491 RCV000405152 RCV003480580

NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln)

SNV
Germline

Chr1:158635967

Conflicting classifications of pathogenicity

Elliptocytosis 2
Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1182321

rs_200938874

5 SubmittersRCV000395419 RCV000302703 RCV000348129 RCV001770231

NM_003126.4(SPTA1):c.5093T>C (p.Val1698Ala)

SNV
Germline

Chr1:158638129

Conflicting classifications of pathogenicity

Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Elliptocytosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1182426

rs_182430449

2 SubmittersRCV000291032 RCV000340130 RCV000376040 RCV002522062

NM_003126.4(SPTA1):c.4919C>G (p.Ala1640Gly)

SNV
Germline

Chr1:158639643

Conflicting classifications of pathogenicity

Elliptocytosis 2
Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1182494

rs_369714529

2 SubmittersRCV000268123 RCV000323216 RCV000353537 RCV005090407

NM_003126.4(SPTA1):c.4833G>A (p.Arg1611=)

SNV
Germline

Chr1:158639912

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Elliptocytosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1182545

rs_145288947

4 SubmittersRCV000264359 RCV000377905 RCV000328774 RCV000898683

NM_003126.4(SPTA1):c.3940T>C (p.Ser1314Pro)

SNV
Germline

Chr1:158645551

Conflicting classifications of pathogenicity

Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Elliptocytosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1182881

rs_200308788

3 SubmittersRCV000263247 RCV000331062 RCV000367083 RCV001248300

NM_003126.4(SPTA1):c.3839A>G (p.Asp1280Gly)

SNV
Germline

Chr1:158647596

Conflicting classifications of pathogenicity

Elliptocytosis 2
Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1182921

rs_200890386

5 SubmittersRCV000259777 RCV000318383 RCV000373123 RCV004021364 RCV001356359

NM_003126.4(SPTA1):c.3829C>T (p.Arg1277Cys)

SNV
Germline

Chr1:158647606

Conflicting classifications of pathogenicity

Elliptocytosis 2
Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1182923

rs_143642542

6 SubmittersRCV000283192 RCV000324353 RCV000378980 RCV002261033 RCV004021365

NM_003126.4(SPTA1):c.3160A>T (p.Thr1054Ser)

SNV
Germline

Chr1:158653302

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Elliptocytosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1183157

rs_145054175

3 SubmittersRCV000278510 RCV000335941 RCV000405289 RCV000756700

NM_003126.4(SPTA1):c.2655T>C (p.Arg885=)

SNV
Germline

Chr1:158657627

Conflicting classifications of pathogenicity

Elliptocytosis 2
Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1183319

rs_368544526

3 SubmittersRCV000260148 RCV000298890 RCV000360836 RCV000895045

NM_003126.4(SPTA1):c.2267T>C (p.Ile756Thr)

SNV
Germline

Chr1:158662899

Conflicting classifications of pathogenicity

Elliptocytosis 2
Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1183447

rs_118088187

4 SubmittersRCV000263914 RCV000319040 RCV000354020 RCV001508912 RCV004857715

NM_003126.4(SPTA1):c.1698C>T (p.Ala566=)

SNV
Germline

Chr1:158669543

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Elliptocytosis 2

Criteria Provided
Conflicting Classifications

CA1183644

rs_561401543

1 SubmittersRCV000277582 RCV000331474 RCV000385978

NM_003126.4(SPTA1):c.1533A>G (p.Ala511=)

SNV
Germline

Chr1:158671409

Conflicting classifications of pathogenicity

Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Elliptocytosis 2
Condition: not provided
SPTA1-related disorder

Criteria Provided
Conflicting Classifications

CA1183727

rs_34446973

4 SubmittersRCV000263566 RCV000321040 RCV000375177 RCV000973287 RCV004549642

NM_003126.4(SPTA1):c.775G>A (p.Ala259Thr)

SNV
Germline

Chr1:158678438

Conflicting classifications of pathogenicity

Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Elliptocytosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1184041

rs_187932146

3 SubmittersRCV000311351 RCV000345433 RCV000404400 RCV001850491

NM_003126.4(SPTA1):c.679G>A (p.Glu227Lys)

SNV
Germline

Chr1:158678534

Conflicting classifications of pathogenicity

Elliptocytosis 2
Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1184056

rs_199598260

4 SubmittersRCV000276051 RCV000314713 RCV000368406 RCV000889354

NM_003126.4(SPTA1):c.243T>C (p.Tyr81=)

SNV
Germline

Chr1:158685129

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Elliptocytosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1184224

rs_369988146

2 SubmittersRCV000262252 RCV000301081 RCV000358555 RCV002519403

NM_003126.4(SPTA1):c.192T>A (p.Asp64Glu)

SNV
Germline

Chr1:158685180

Conflicting classifications of pathogenicity

Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Elliptocytosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1184237

rs_200860772

3 SubmittersRCV000269779 RCV000327229 RCV000384027 RCV001509090

NM_003126.4(SPTA1):c.54G>A (p.Leu18=)

SNV
Germline

Chr1:158685318

Conflicting classifications of pathogenicity

Elliptocytosis 2
Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Condition: not provided
SPTA1-related disorder

Criteria Provided
Conflicting Classifications

CA1184261

rs_199690643

5 SubmittersRCV000349158 RCV000294265 RCV000405093 RCV000658527 RCV004549643

NM_003126.4(SPTA1):c.6378G>T (p.Val2126=)

SNV
Germline

Chr1:158620209

Conflicting classifications of pathogenicity

Elliptocytosis 2
Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Condition: not provided
SPTA1-related disorder

Criteria Provided
Conflicting Classifications

CA1182023

rs_141823269

3 SubmittersRCV000261654 RCV000300884 RCV000367197 RCV003546498 RCV004737429

NM_003126.4(SPTA1):c.5358G>A (p.Gly1786=)

SNV
Germline

Chr1:158635987

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
Elliptocytosis 2
Pyropoikilocytosis, hereditary
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1182328

rs_368542665

2 SubmittersRCV000277544 RCV000308066 RCV000362687 RCV000907643

NM_003126.4(SPTA1):c.4694T>A (p.Leu1565Gln)

SNV
Germline

Chr1:158642454

Conflicting classifications of pathogenicity

Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Elliptocytosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1182599

rs_202217097

6 SubmittersRCV000294742 RCV000349617 RCV000389064 RCV000917707

NM_003126.4(SPTA1):c.3398G>C (p.Arg1133Pro)

SNV
Germline

Chr1:158651446

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
Elliptocytosis 2
Pyropoikilocytosis, hereditary
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1183064

rs_35733059

3 SubmittersRCV000293245 RCV000389358 RCV000350472 RCV001812777

NM_003126.4(SPTA1):c.3149C>T (p.Pro1050Leu)

SNV
Germline

Chr1:158653313

Conflicting classifications of pathogenicity

Elliptocytosis 2
Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1183159

rs_116297260

3 SubmittersRCV000283271 RCV000340574 RCV000404635 RCV000756701

NM_003126.4(SPTA1):c.3108C>T (p.His1036=)

SNV
Germline

Chr1:158653354

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Elliptocytosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1183172

rs_34886778

4 SubmittersRCV000310230 RCV000395152 RCV000362499 RCV002059337

NM_003126.4(SPTA1):c.3072C>T (p.Gly1024=)

SNV
Germline

Chr1:158653390

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Elliptocytosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1183179

rs_747751954

2 SubmittersRCV000273527 RCV000313651 RCV000370625 RCV005230230

NM_003126.4(SPTA1):c.3037-14T>C

SNV
Germline

Chr1:158653439

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
Elliptocytosis 2
Pyropoikilocytosis, hereditary
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1183185

rs_142102801

4 SubmittersRCV000262772 RCV000330973 RCV000355418 RCV001812778

NM_003126.4(SPTA1):c.2160C>T (p.Ala720=)

SNV
Germline

Chr1:158666376

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Elliptocytosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1183506

rs_199815523

2 SubmittersRCV000288709 RCV000343651 RCV000379325 RCV002227120

NM_003126.4(SPTA1):c.798A>G (p.Leu266=)

SNV
Germline

Chr1:158678415

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Elliptocytosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1184033

rs_36058424

4 SubmittersRCV000284671 RCV000338605 RCV000376847 RCV000957519

NM_003126.4(SPTA1):c.793A>G (p.Asn265Asp)

SNV
Germline

Chr1:158678420

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Elliptocytosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1184034

rs_183647059

4 SubmittersRCV000306827 RCV000342017 RCV000393037 RCV000889353

NM_003126.4(SPTA1):c.6850G>A (p.Asp2284Asn)

SNV
Germline

Chr1:158613860

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Elliptocytosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1181797

rs_138732899

4 SubmittersRCV000296895 RCV000338302 RCV000402406 RCV000903571

NM_003126.4(SPTA1):c.5911G>A (p.Asp1971Asn)

SNV
Germline

Chr1:158623192

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
Elliptocytosis 2
Pyropoikilocytosis, hereditary
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1182137

rs_116466258

4 SubmittersRCV000282656 RCV000336545 RCV000374793 RCV001507997

NM_003126.4(SPTA1):c.5786C>G (p.Ala1929Gly)

SNV
Germline

Chr1:158626886

Conflicting classifications of pathogenicity

Elliptocytosis 2
Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
not specified
Condition: not provided
SPTA1-related disorder

Criteria Provided
Conflicting Classifications

CA1182196

rs_199547344

5 SubmittersRCV000261580 RCV000319189 RCV000354150 RCV004668886 RCV002261032 RCV004549639

NM_003126.4(SPTA1):c.3167G>T (p.Arg1056Leu)

SNV
Germline

Chr1:158653295

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Elliptocytosis 2
SPTA1-related disorder
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1183155

rs_188875641

6 SubmittersRCV000275888 RCV000333458 RCV000385681 RCV004549641 RCV000963777 RCV004021366

NM_003126.4(SPTA1):c.1680G>C (p.Leu560=)

SNV
Germline

Chr1:158669561

Conflicting classifications of pathogenicity

Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Elliptocytosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1183652

rs_73020251

3 SubmittersRCV000285045 RCV000374835 RCV000338799 RCV000963778

NM_003126.4(SPTA1):c.345G>A (p.Arg115=)

SNV
Germline

Chr1:158683416

Conflicting classifications of pathogenicity

Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Elliptocytosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1184194

rs_200343758

2 SubmittersRCV000297482 RCV000354624 RCV000404912 RCV005090410

NM_003126.4(SPTA1):c.174C>T (p.Phe58=)

SNV
Germline

Chr1:158685198

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Elliptocytosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1184244

rs_190704778

4 SubmittersRCV000330784 RCV000292120 RCV000387627 RCV002522065

NM_003126.4(SPTA1):c.*68C>G

SNV
Germline

Chr1:158611196

Conflicting classifications of pathogenicity

Pyropoikilocytosis, hereditary
Elliptocytosis 2
Hereditary spherocytosis type 3

Criteria Provided
Conflicting Classifications

CA10608368

rs_186892978

1 SubmittersRCV000262559 RCV000331748 RCV000375773

NM_003126.4(SPTA1):c.7104G>T (p.Lys2368Asn)

SNV
Germline

Chr1:158612847

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Elliptocytosis 2
Condition: not provided
not specified
SPTA1-related disorder

Criteria Provided
Conflicting Classifications

CA1181728

rs_112884419

8 SubmittersRCV000288553 RCV000348228 RCV000381859 RCV000756704 RCV002465612 RCV004549636

NM_003126.4(SPTA1):c.6233T>A (p.Ile2078Asn)

SNV
Germline

Chr1:158620354

Conflicting classifications of pathogenicity

Elliptocytosis 2
Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1182042

rs_757836340

2 SubmittersRCV000269191 RCV000326541 RCV000383425 RCV003718149

NM_003126.4(SPTA1):c.5834-15G>A

SNV
Germline

Chr1:158626237

Conflicting classifications of pathogenicity

Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Condition: not provided
Elliptocytosis 2

Criteria Provided
Conflicting Classifications

CA1182170

rs_192889943

3 SubmittersRCV000302956 RCV000365233 RCV001812776 RCV000402300

NM_003126.4(SPTA1):c.5778C>T (p.Asp1926=)

SNV
Germline

Chr1:158626894

Conflicting classifications of pathogenicity

Pyropoikilocytosis, hereditary
Elliptocytosis 2
Hereditary spherocytosis type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1182199

rs_146520285

3 SubmittersRCV000293760 RCV000332397 RCV000385371 RCV003114462

NM_003126.4(SPTA1):c.5566-10A>G

SNV
Germline

Chr1:158627733

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Elliptocytosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1182254

rs_140863916

2 SubmittersRCV000298769 RCV000355930 RCV000399669 RCV003765705

NM_003126.4(SPTA1):c.4564A>G (p.Thr1522Ala)

SNV
Germline

Chr1:158642855

Conflicting classifications of pathogenicity

Pyropoikilocytosis, hereditary
Elliptocytosis 2
Condition: not provided
Hereditary spherocytosis type 3
SPTA1-related disorder

Criteria Provided
Conflicting Classifications

CA1182657

rs_201910178

7 SubmittersRCV000297861 RCV000361908 RCV001507481 RCV000397160 RCV004549640

NM_003126.4(SPTA1):c.4302G>A (p.Lys1434=)

SNV
Germline

Chr1:158644289

Conflicting classifications of pathogenicity

Pyropoikilocytosis, hereditary
Elliptocytosis 2
Hereditary spherocytosis type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1182776

rs_77182042

3 SubmittersRCV000281272 RCV000336338 RCV000406503 RCV000888387

NM_003126.4(SPTA1):c.3697G>A (p.Val1233Ile)

SNV
Germline

Chr1:158648526

Conflicting classifications of pathogenicity

Elliptocytosis 2
Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1182969

rs_369125471

4 SubmittersRCV000291374 RCV000340503 RCV000383387 RCV002519402

NM_003126.4(SPTA1):c.3166C>T (p.Arg1056Cys)

SNV
Germline

Chr1:158653296

Conflicting classifications of pathogenicity

Elliptocytosis 2
Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1183156

rs_762361277

2 SubmittersRCV000293726 RCV000318294 RCV000375346 RCV003765706

NM_003126.4(SPTA1):c.2506A>G (p.Arg836Gly)

SNV
Germline

Chr1:158661368

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
Elliptocytosis 2
Pyropoikilocytosis, hereditary
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1183371

rs_201844450

4 SubmittersRCV000297257 RCV000335869 RCV000399026 RCV003137908

NM_003126.4(SPTA1):c.1982G>A (p.Arg661His)

SNV
Germline

Chr1:158667914

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
Elliptocytosis 2
Pyropoikilocytosis, hereditary
Condition: not provided
not specified
SPTA1-related disorder

Criteria Provided
Conflicting Classifications

CA1183557

rs_201845149

8 SubmittersRCV000262342 RCV000358196 RCV000322140 RCV001727670 RCV001701840 RCV004737430

NM_003126.4(SPTA1):c.1817A>G (p.Asp606Gly)

SNV
Germline

Chr1:158669424

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
Elliptocytosis 2
Pyropoikilocytosis, hereditary
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1183620

rs_149441716

4 SubmittersRCV000270128 RCV000305247 RCV000360076 RCV000958506

NM_003126.4(SPTA1):c.1731G>T (p.Leu577Phe)

SNV
Germline

Chr1:158669510

Conflicting classifications of pathogenicity

Pyropoikilocytosis, hereditary
Elliptocytosis 2
Hereditary spherocytosis type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1183636

rs_34211240

4 SubmittersRCV000271802 RCV000307142 RCV000366492 RCV000880557

NM_003126.4(SPTA1):c.1600-10A>G

SNV
Germline

Chr1:158669796

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
Elliptocytosis 2
Pyropoikilocytosis, hereditary
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1183693

rs_148156245

3 SubmittersRCV000308684 RCV000345760 RCV000405346 RCV000961006

NM_003126.4(SPTA1):c.853C>A (p.Pro285Thr)

SNV
Germline

Chr1:158677794

Conflicting classifications of pathogenicity

Elliptocytosis 2
Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1183992

rs_150007668

5 SubmittersRCV000273376 RCV000328361 RCV000365672 RCV000955255

NM_003126.4(SPTA1):c.812+7A>T

SNV
Germline

Chr1:158678394

Conflicting classifications of pathogenicity

Elliptocytosis 2
Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1184026

rs_186595817

2 SubmittersRCV000281275 RCV000315782 RCV000372799 RCV005090409

NM_003126.4(SPTA1):c.224T>C (p.Ile75Thr)

SNV
Germline

Chr1:158685148

Conflicting classifications of pathogenicity

Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Elliptocytosis 2

Criteria Provided
Conflicting Classifications

CA1184231

rs_146993090

1 SubmittersRCV000266135 RCV000323519 RCV000380383

NM_000037.4(ANK1):c.*774A>G

SNV
Germline

Chr8:41655016

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis

Criteria Provided
Conflicting Classifications

CA10625414

rs_142696529

1 SubmittersRCV000342881 RCV001162405

NM_000037.4(ANK1):c.3984+9A>G

SNV
Germline

Chr8:41690465

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Condition: not provided
Spherocytosis

Criteria Provided
Conflicting Classifications

CA4727724

rs_369984591

2 SubmittersRCV000331979 RCV000897360 RCV001161249

NM_000037.4(ANK1):c.3652C>T (p.Arg1218Trp)

SNV
Germline

Chr8:41692854

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Condition: not provided
Spherocytosis

Criteria Provided
Conflicting Classifications

CA4727804

rs_142542271

6 SubmittersRCV000344876 RCV000415950 RCV001164868

NM_000037.4(ANK1):c.2403G>A (p.Lys801=)

SNV
Germline

Chr8:41701608

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4728243

rs_147130318

4 SubmittersRCV000281838 RCV001165100 RCV000755810

NM_000037.4(ANK1):c.2370G>T (p.Thr790=)

SNV
Germline

Chr8:41702070

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis

Criteria Provided
Conflicting Classifications

CA4728268

rs_540304535

1 SubmittersRCV000336833 RCV001165101

NM_000037.4(ANK1):c.229-11A>G

SNV
Germline

Chr8:41728017

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Condition: not provided
Spherocytosis

Criteria Provided
Conflicting Classifications

CA4729047

rs_372152994

2 SubmittersRCV000407804 RCV002523683 RCV001160174

NM_000037.4(ANK1):c.5045G>A (p.Arg1682Gln)

SNV
Germline

Chr8:41672405

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4727405

rs_140231188

3 SubmittersRCV000278155 RCV001162602 RCV001861323

NM_000037.4(ANK1):c.3399C>T (p.Thr1133=)

SNV
Germline

Chr8:41694031

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Condition: not provided
Spherocytosis

Criteria Provided
Conflicting Classifications

CA4727887

rs_117516263

4 SubmittersRCV000342943 RCV000962919 RCV001161365

NM_000037.4(ANK1):c.3282G>A (p.Thr1094=)

SNV
Germline

Chr8:41694637

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4727924

rs_144821829

3 SubmittersRCV000298525 RCV001162912 RCV000885197

NM_000037.4(ANK1):c.3115+9G>A

SNV
Germline

Chr8:41695168

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Condition: not provided
Spherocytosis

Criteria Provided
Conflicting Classifications

CA4727979

rs_150850103

3 SubmittersRCV000311563 RCV000971000 RCV001164984

NM_000037.4(ANK1):c.3033C>T (p.Ser1011=)

SNV
Germline

Chr8:41695259

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4727998

rs_61758866

4 SubmittersRCV001000407 RCV001164987 RCV000956602

NM_000037.4(ANK1):c.1563C>T (p.Ala521=)

SNV
Germline

Chr8:41715691

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4728579

rs_762615459

2 SubmittersRCV000355865 RCV001158491 RCV000900127

NM_000037.4(ANK1):c.1404+15C>T

SNV
Germline

Chr8:41716938

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4728636

rs_201598401

5 SubmittersRCV000286003 RCV001163229 RCV001508242

NM_000037.4(ANK1):c.1350G>A (p.Thr450=)

SNV
Germline

Chr8:41717007

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4728644

rs_769803878

2 SubmittersRCV000322301 RCV001165325 RCV005055934

NM_000037.4(ANK1):c.1337G>C (p.Arg446Thr)

SNV
Germline

Chr8:41717020

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4728649

rs_142010751

4 SubmittersRCV000376292 RCV001165326 RCV000913010 RCV004022072

NM_000037.4(ANK1):c.669G>A (p.Gln223=)

SNV
Germline

Chr8:41724498

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis
ANK1-related disorder

Criteria Provided
Conflicting Classifications

CA4728908

rs_375060699

3 SubmittersRCV000265674 RCV001161928 RCV003902417

NM_000037.4(ANK1):c.*1708G>C

SNV
Germline

Chr8:41654082

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10631015

rs_182454354

2 SubmittersRCV000274511 RCV001160688 RCV003311793

NM_000037.4(ANK1):c.*1402G>T

SNV
Germline

Chr8:41654388

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis

Criteria Provided
Conflicting Classifications

CA10631044

rs_116137861

1 SubmittersRCV000326563 RCV001164333

NM_000037.4(ANK1):c.*992T>C

SNV
Germline

Chr8:41654798

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis

Criteria Provided
Conflicting Classifications

CA10631045

rs_559077429

1 SubmittersRCV000377724 RCV001160780

NM_000037.4(ANK1):c.5376C>T (p.Thr1792=)

SNV
Germline

Chr8:41668285

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Condition: not provided
Spherocytosis

Criteria Provided
Conflicting Classifications

CA4727305

rs_147232364

2 SubmittersRCV000265150 RCV000915662 RCV001159631

NM_000037.4(ANK1):c.3533-10G>A

SNV
Germline

Chr8:41693211

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Condition: not provided
Spherocytosis

Criteria Provided
Conflicting Classifications

CA4727842

rs_374510116

2 SubmittersRCV000383443 RCV000902626 RCV001159956

NM_000037.4(ANK1):c.3288G>A (p.Pro1096=)

SNV
Germline

Chr8:41694631

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 1
Spherocytosis

Criteria Provided
Conflicting Classifications

CA4727922

rs_140964621

2 SubmittersRCV000923611 RCV000407860 RCV001162911

NM_000037.4(ANK1):c.3984+12C>T

SNV
Germline

Chr8:41690462

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4727722

rs_200019819

2 SubmittersRCV000274712 RCV001161248 RCV003766089

NM_000037.4(ANK1):c.3234C>T (p.Pro1078=)

SNV
Germline

Chr8:41694685

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4727935

rs_755219802

3 SubmittersRCV000355813 RCV001164983 RCV003430950

NM_000037.4(ANK1):c.2167C>A (p.His723Asn)

SNV
Germline

Chr8:41704403

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4728345

rs_150899388

6 SubmittersRCV000393953 RCV001161593 RCV000963224 RCV002524563

NM_000037.4(ANK1):c.1926C>T (p.Ala642=)

SNV
Germline

Chr8:41708850

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4728427

rs_534680895

3 SubmittersRCV000308341 RCV001163122 RCV002524565

NM_000037.4(ANK1):c.1503C>T (p.Thr501=)

SNV
Germline

Chr8:41715751

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4728598

rs_145793923

2 SubmittersRCV000261396 RCV001161702 RCV005090602

NM_000037.4(ANK1):c.3532+13C>A

SNV
Germline

Chr8:41693885

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4727857

rs_181905023

3 SubmittersRCV000291339 RCV001159957 RCV002524562

NM_000037.4(ANK1):c.2735+10G>A

SNV
Germline

Chr8:41696666

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Condition: not provided
Spherocytosis

Criteria Provided
Conflicting Classifications

CA4728118

rs_75296105

3 SubmittersRCV000276024 RCV000905094 RCV001163011

NM_000037.4(ANK1):c.1203C>T (p.Thr401=)

SNV
Germline

Chr8:41718109

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4728701

rs_145628190

2 SubmittersRCV000398433 RCV001165330 RCV000916901

NM_000037.4(ANK1):c.2097+15C>T

SNV
Germline

Chr8:41706128

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4728370

rs_200206750

2 SubmittersRCV000302556 RCV001161594 RCV002524564

NM_000037.4(ANK1):c.711+13C>T

SNV
Germline

Chr8:41724443

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4728897

rs_763737257

2 SubmittersRCV000259672 RCV001158720 RCV003766090

NM_000037.4(ANK1):c.876G>A (p.Leu292=)

SNV
Germline

Chr8:41723158

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Condition: not provided
ANK1-related disorder
Spherocytosis

Criteria Provided
Conflicting Classifications

CA4728820

rs_373060967

3 SubmittersRCV000354387 RCV000921435 RCV003922633 RCV001165445

NM_000037.4(ANK1):c.675C>T (p.Leu225=)

SNV
Germline

Chr8:41724492

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Condition: not provided
Spherocytosis

Criteria Provided
Conflicting Classifications

CA4728907

rs_146507999

2 SubmittersRCV000360351 RCV000913208 RCV001158721

NM_001355436.2(SPTB):c.1606G>A (p.Asp536Asn)

SNV
Germline

Chr14:64795375

Conflicting classifications of pathogenicity

Elliptocytosis
Spherocytosis, Dominant
Elliptocytosis 3
Condition: not provided
Hereditary spherocytosis type 2

Criteria Provided
Conflicting Classifications

CA7231074

rs_145675502

6 SubmittersRCV000303487 RCV000358248 RCV001329811 RCV001812815 RCV005355637

NM_001114134.2(EPB42):c.2032A>G (p.Asn678Asp)

SNV
Germline

Chr15:43197346

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 5
Condition: not provided
Inborn genetic diseases
EPB42-related disorder

Criteria Provided
Conflicting Classifications

CA7520140

rs_201674874

7 SubmittersRCV000379941 RCV002522792 RCV002522791 RCV003920326

NM_001114134.2(EPB42):c.1767C>A (p.His589Gln)

SNV
Germline

Chr15:43203127

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7520229

rs_114354377

4 SubmittersRCV000756092 RCV002520957

NM_000342.4(SLC4A1):c.2210C>T (p.Ala737Val)

SNV
Germline

Chr17:44253219

Conflicting classifications of pathogenicity

Hemolytic anemia
Spherocytosis, Dominant
Distal Renal Tubular Acidosis, Dominant
Hereditary spherocytosis type 4

Criteria Provided
Conflicting Classifications

CA10639799

rs_886052997

2 SubmittersRCV000304165 RCV000342542 RCV000393610 RCV003329116

NM_000342.4(SLC4A1):c.636A>G (p.Ser212=)

SNV
Germline

Chr17:44259555

Conflicting classifications of pathogenicity

Autosomal dominant distal renal tubular acidosis
Hemolytic anemia
Hereditary spherocytosis type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10639803

rs_886053000

2 SubmittersRCV000264081 RCV000302969 RCV000355427 RCV002522979

NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys)

SNV
Germline

Chr17:44260698

Conflicting classifications of pathogenicity

Autosomal dominant distal renal tubular acidosis
Hemolytic anemia
Hereditary spherocytosis type 4
Condition: not provided
11 conditions

Criteria Provided
Conflicting Classifications

CA8600651

rs_538778224

6 SubmittersRCV000275834 RCV000334118 RCV000386246 RCV001355054 RCV005016713

NM_001114134.2(EPB42):c.1661G>A (p.Arg554Gln)

SNV
Germline

Chr15:43203233

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7520250

rs_150037117

2 SubmittersRCV000384712 RCV004975443

NM_001114134.2(EPB42):c.430+12C>T

SNV
Germline

Chr15:43215083

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7520621

rs_185794093

3 SubmittersRCV000381808 RCV002520958

NM_001114134.2(EPB42):c.10+91G>A

SNV
Germline

Chr15:43220725

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7520718

rs_150530456

2 SubmittersRCV000282303 RCV002522793

NM_001355436.2(SPTB):c.4837C>T (p.Pro1613Ser)

SNV
Germline

Chr14:64775130

Conflicting classifications of pathogenicity

Spherocytosis, Dominant
Elliptocytosis
Hereditary spherocytosis type 2
Condition: not provided
SPTB-related disorder

Criteria Provided
Conflicting Classifications

CA7230185

rs_375478086

5 SubmittersRCV000283035 RCV000375251 RCV003338569 RCV003546516 RCV003910181

NM_000342.4(SLC4A1):c.173A>G (p.Tyr58Cys)

SNV
Germline

Chr17:44260811

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 4
Autosomal dominant distal renal tubular acidosis
Hemolytic anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8600679

rs_368863744

2 SubmittersRCV000305664 RCV000339556 RCV000392701 RCV003565409

NM_000342.4(SLC4A1):c.-136C>T

SNV
Germline

Chr17:44268121

Conflicting classifications of pathogenicity

Autosomal dominant distal renal tubular acidosis
Hereditary spherocytosis type 4
Hemolytic anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10645809

rs_566359654

2 SubmittersRCV000307890 RCV000362553 RCV000407012 RCV002261067

NM_001114134.2(EPB42):c.1165A>C (p.Ile389Leu)

SNV
Germline

Chr15:43207352

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 5
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7520386

rs_141596199

3 SubmittersRCV000356581 RCV003165851 RCV003556326

NM_001114134.2(EPB42):c.1025G>A (p.Gly342Asp)

SNV
Germline

Chr15:43208280

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7520423

rs_116484797

3 SubmittersRCV000267602 RCV000889759

NM_001114134.2(EPB42):c.10+97G>A

SNV
Germline

Chr15:43220719

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7520715

rs_372291145

2 SubmittersRCV000374411 RCV003574740

NM_001114134.2(EPB42):c.1386C>T (p.Asn462=)

SNV
Germline

Chr15:43206562

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7520335

rs_199505318

3 SubmittersRCV000345535 RCV003718175

NM_001114134.2(EPB42):c.10+60C>T

SNV
Germline

Chr15:43220756

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7520724

rs_144428415

4 SubmittersRCV000334960 RCV002061181

NM_000342.4(SLC4A1):c.2630T>C (p.Ile877Thr)

SNV
Germline

Chr17:44251184

Conflicting classifications of pathogenicity

Hemolytic anemia
Autosomal dominant distal renal tubular acidosis
Hereditary spherocytosis type 4

Criteria Provided
Conflicting Classifications

CA8599985

rs_765911147

1 SubmittersRCV000263312 RCV000318381 RCV000358059

NM_000342.4(SLC4A1):c.2208C>T (p.Asn736=)

SNV
Germline

Chr17:44253221

Conflicting classifications of pathogenicity

Autosomal dominant distal renal tubular acidosis
Hemolytic anemia
Hereditary spherocytosis type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8600094

rs_766674440

2 SubmittersRCV000262833 RCV000302762 RCV000355227 RCV000901725

NM_000342.4(SLC4A1):c.876+14G>A

SNV
Germline

Chr17:44259149

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 4
Hemolytic anemia
Autosomal dominant distal renal tubular acidosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8600443

rs_571092411

2 SubmittersRCV000310154 RCV000362485 RCV000391080 RCV002056603

NM_000342.4(SLC4A1):c.202G>A (p.Glu68Lys)

SNV
Germline

Chr17:44260782

Conflicting classifications of pathogenicity

Autosomal dominant distal renal tubular acidosis
Hereditary spherocytosis type 4
Hemolytic anemia
Condition: not provided
SLC4A1-related disorder

Criteria Provided
Conflicting Classifications

CA8600670

rs_13306787

3 SubmittersRCV000288475 RCV000345874 RCV000401440 RCV001850728 RCV004549702

NM_000342.4(SLC4A1):c.*351G>T

SNV
Germline

Chr17:44250107

Conflicting classifications of pathogenicity

Autosomal dominant distal renal tubular acidosis
Hereditary spherocytosis type 4
Hemolytic anemia

Criteria Provided
Conflicting Classifications

CA10650258

rs_138242019

1 SubmittersRCV000297912 RCV000371331 RCV000403331

NM_000342.4(SLC4A1):c.457C>A (p.Leu153Met)

SNV
Germline

Chr17:44260432

Conflicting classifications of pathogenicity

Autosomal dominant distal renal tubular acidosis
Hereditary spherocytosis type 4
Hemolytic anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8600597

rs_145041032

5 SubmittersRCV000262760 RCV000315657 RCV000372661 RCV001812856

NM_003126.4(SPTA1):c.3357G>C (p.Lys1119Asn)

SNV
Germline

Chr1:158652485

Conflicting classifications of pathogenicity

Condition: not provided
Elliptocytosis 2
Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
SPTA1-related disorder

Criteria Provided
Conflicting Classifications

CA1183091

rs_200230894

8 SubmittersRCV000443048 RCV001099386 RCV001099387 RCV001101374 RCV004737490

NM_001355436.2(SPTB):c.6095T>C (p.Leu2032Pro)

SNV
Germline

Chr14:64767787

Pathogenic

Hereditary spherocytosis

No Assertion Criteria Provided

CA390039437

rs_1555366607

1 SubmittersRCV000625738

NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp)

SNV
Germline

Chr1:158619331

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
Elliptocytosis 2
Condition: not provided
Pyropoikilocytosis, hereditary
Elliptocytosis 2
Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3

Criteria Provided
Conflicting Classifications

CA1181985

rs_41273519

10 SubmittersRCV000655918 RCV001096844 RCV001507992 RCV001096843 RCV005392256

NM_003126.4(SPTA1):c.2898G>A (p.Gln966=)

SNV
Germline

Chr1:158656564

Likely pathogenic

Hereditary spherocytosis type 3

Criteria Provided
Single Submitter

CA421287338

rs_1553232007

1 SubmittersRCV000655919

NM_003126.4(SPTA1):c.1688G>A (p.Arg563Gln)

SNV
Germline

Chr1:158669553

Conflicting classifications of pathogenicity

Pyropoikilocytosis, hereditary
Elliptocytosis 2
Familial hemolytic anemia
Hereditary spherocytosis type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1183648

rs_202243588

5 SubmittersRCV001099974 RCV001099973 RCV000655917 RCV001099975 RCV002534241

NM_000037.4(ANK1):c.5152C>T (p.Gln1718Ter)

SNV
Germline

Chr8:41668509

Pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371051975

rs_1554522035

1 SubmittersRCV000655896

NM_000037.4(ANK1):c.4462C>T (p.Arg1488Ter)

SNV
Germline

Chr8:41684619

Pathogenic

Condition: not provided
Hereditary spherocytosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA175923046

rs_777701149

6 SubmittersRCV002275141 RCV000655899

NM_000037.4(ANK1):c.1702-2A>C

SNV
Germline

Chr8:41714256

Pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371069546

rs_1554567249

1 SubmittersRCV000655897

NM_000037.4(ANK1):c.1A>G (p.Met1Val)

SNV
Germline

Chr8:41797538

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371053195

rs_1554627073

1 SubmittersRCV000655900

NM_001355436.2(SPTB):c.5623C>T (p.Gln1875Ter)

SNV
Germline

Chr14:64771060

Pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

CA390040503

rs_1555367359

1 SubmittersRCV000655914

NM_001355436.2(SPTB):c.4973+5G>A

SNV
Germline

Chr14:64774392

Pathogenic/Likely pathogenic

Hereditary spherocytosis type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA658798223

rs_1555367789

5 SubmittersRCV000655910 RCV001379964

NM_001355436.2(SPTB):c.3916C>T (p.Arg1306Ter)

SNV
Germline

Chr14:64784333

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spherocytosis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA7230456

rs_150471537

7 SubmittersRCV001507847 RCV000655913

NM_001355436.2(SPTB):c.2863C>T (p.Arg955Ter)

SNV
Germline

Chr14:64787102

Pathogenic

Hereditary spherocytosis type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA390047744

rs_1555369657

7 SubmittersRCV000655909 RCV001784220

NM_001355436.2(SPTB):c.647G>A (p.Arg216Gln)

SNV
Germline

Chr14:64801754

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 2
SPTB-related disorder
Condition: not provided
Hereditary spherocytosis type 2
Elliptocytosis 3

Criteria Provided
Conflicting Classifications

CA390031881

rs_1555371769

7 SubmittersRCV000655908 RCV003432719 RCV003133483 RCV004796261

NM_000342.4(SLC4A1):c.2423G>A (p.Arg808His)

SNV
Germline

Chr17:44251477

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spherocytosis type 4
Autosomal dominant distal renal tubular acidosis
Hereditary spherocytosis type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA290925289

rs_866727908

4 SubmittersRCV003140049 RCV000655906 RCV002290971

NM_000342.4(SLC4A1):c.1458C>G (p.Tyr486Ter)

SNV
Germline

Chr17:44257518

Pathogenic

Hereditary spherocytosis type 4

Criteria Provided
Single Submitter

CA399786001

rs_1555596072

1 SubmittersRCV000655902

NM_000342.4(SLC4A1):c.1322T>G (p.Leu441Arg)

SNV
Germline

Chr17:44257768

Likely pathogenic

Hereditary spherocytosis type 4

Criteria Provided
Single Submitter

CA399787649

rs_1555596165

1 SubmittersRCV000655904

NM_000342.4(SLC4A1):c.695-3C>A

SNV
Germline

Chr17:44259347

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 4
11 conditions

Criteria Provided
Conflicting Classifications

CA8600495

rs_772264078

2 SubmittersRCV000655905 RCV005019093

NM_000342.4(SLC4A1):c.486-2A>G

SNV
Germline

Chr17:44259934

Pathogenic

Hereditary spherocytosis type 4

Criteria Provided
Single Submitter

CA399794233

rs_1555596757

1 SubmittersRCV000655903

NM_003126.4(SPTA1):c.6631C>T (p.Arg2211Cys)

SNV
Germline

Chr1:158615373

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 3

Criteria Provided
Conflicting Classifications

CA1181897

rs_773800556

3 SubmittersRCV000756698 RCV001336018

NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His)

SNV
Germline

Chr1:158652612

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 3
Elliptocytosis 2
Pyropoikilocytosis, hereditary

Criteria Provided
Conflicting Classifications

CA1183113

rs_199612744

6 SubmittersRCV000756706 RCV001101375 RCV001101376 RCV001101377

NM_003126.4(SPTA1):c.2954T>C (p.Leu985Ser)

SNV
Germline

Chr1:158654693

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Elliptocytosis 2
Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3

Criteria Provided
Conflicting Classifications

CA1183221

rs_774722673

5 SubmittersRCV001811467 RCV004027134 RCV005047015

NM_003126.4(SPTA1):c.1703G>A (p.Arg568His)

SNV
Germline

Chr1:158669538

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 3
Elliptocytosis 2
Pyropoikilocytosis, hereditary

Criteria Provided
Conflicting Classifications

CA1183641

rs_200829664

6 SubmittersRCV000756694 RCV001098198 RCV001098199 RCV001098200

NM_003126.4(SPTA1):c.33G>C (p.Glu11Asp)

SNV
Germline

Chr1:158685339

Conflicting classifications of pathogenicity

Condition: not provided
Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Elliptocytosis 2
SPTA1-related disorder

Criteria Provided
Conflicting Classifications

CA1184269

rs_41273533

6 SubmittersRCV000756695 RCV001098793 RCV001098794 RCV001098795 RCV004547948

NM_000037.4(ANK1):c.4606C>T (p.Arg1536Cys)

SNV
Germline

Chr8:41672844

Conflicting classifications of pathogenicity

Spherocytosis
Hereditary spherocytosis type 1
Inborn genetic diseases
Condition: not provided
ANK1-related disorder

Criteria Provided
Conflicting Classifications

CA4727477

rs_146416859

5 SubmittersRCV001159736 RCV001164662 RCV002536557 RCV003688880 RCV003918234

NM_000037.4(ANK1):c.2029C>T (p.Gln677Ter)

SNV
Germline

Chr8:41706211

Pathogenic/Likely pathogenic

Hereditary spherocytosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA371067515

rs_1563502820

3 SubmittersRCV000755817 RCV005092171

NM_001114134.2(EPB42):c.581G>A (p.Arg194His)

SNV
Germline

Chr15:43210408

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 5

Criteria Provided
Conflicting Classifications

CA7520576

rs_146348439

4 SubmittersRCV000757223 RCV003144581

NM_001355436.2(SPTB):c.4063G>T (p.Glu1355Ter)

SNV
Unknown

Chr14:64782493

Pathogenic

Hereditary spherocytosis

Criteria Provided
Single Submitter

CA390045083

rs_1566754467

1 SubmittersRCV000766108

NM_003126.4(SPTA1):c.748C>T (p.Arg250Cys)

SNV
Germline

Chr1:158678465

Conflicting classifications of pathogenicity

Condition: not provided
Elliptocytosis 2
Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary

Criteria Provided
Conflicting Classifications

CA1184046

rs_143459302

5 SubmittersRCV000955256 RCV001098602 RCV001098603 RCV001098604

NM_001114134.2(EPB42):c.1672G>A (p.Glu558Lys)

SNV
Germline

Chr15:43203222

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 5

Criteria Provided
Conflicting Classifications

CA7520246

rs_75424023

3 SubmittersRCV000957267 RCV001804112

NM_000037.4(ANK1):c.5601G>A (p.Ala1867=)

SNV
Germline

Chr8:41661508

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 1
Spherocytosis
ANK1-related disorder

Criteria Provided
Conflicting Classifications

CA4727062

rs_150975400

3 SubmittersRCV000971551 RCV001164545 RCV001164546 RCV003906018

NM_003126.4(SPTA1):c.1181A>G (p.Asn394Ser)

SNV
Germline

Chr1:158674607

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 3
Elliptocytosis 2
Pyropoikilocytosis, hereditary
SPTA1-related disorder

Criteria Provided
Conflicting Classifications

CA1183881

rs_111834376

6 SubmittersRCV000880558 RCV001098395 RCV001098396 RCV001098394 RCV004550010

NM_000037.4(ANK1):c.4022C>T (p.Ser1341Leu)

SNV
Germline

Chr8:41690309

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 1
Spherocytosis

Criteria Provided
Conflicting Classifications

CA4727698

rs_145562489

4 SubmittersRCV000891399 RCV001159842 RCV001159843

NM_000037.4(ANK1):c.3668T>C (p.Val1223Ala)

SNV
Germline

Chr8:41692838

Conflicting classifications of pathogenicity

Spherocytosis
Condition: not provided
Hereditary spherocytosis type 1

Criteria Provided
Conflicting Classifications

CA4727798

rs_185516533

3 SubmittersRCV001164865 RCV000879225 RCV001164864

NM_000037.4(ANK1):c.2745G>A (p.Val915=)

SNV
Germline

Chr8:41696578

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 1

Criteria Provided
Conflicting Classifications

CA4728093

rs_143585080

3 SubmittersRCV000880623 RCV003117632

NM_000037.4(ANK1):c.1483A>C (p.Asn495His)

SNV
Germline

Chr8:41715771

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 1

Criteria Provided
Conflicting Classifications

CA4728602

rs_143839208

4 SubmittersRCV000883267 RCV001804043

NM_000037.4(ANK1):c.1387G>A (p.Val463Ile)

SNV
Germline

Chr8:41716970

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 1
not specified

Criteria Provided
Conflicting Classifications

CA4728642

rs_140085544

6 SubmittersRCV000893197 RCV001163232 RCV005436272

NM_000037.4(ANK1):c.5395-1080C>T

SNV
Germline

Chr8:41664822

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 1

Criteria Provided
Conflicting Classifications

CA175912904

rs_143349452

2 SubmittersRCV000889440 RCV002227225

NM_000037.4(ANK1):c.3102C>T (p.Asn1034=)

SNV
Germline

Chr8:41695190

Conflicting classifications of pathogenicity

Condition: not provided
Spherocytosis
Hereditary spherocytosis type 1
ANK1-related disorder

Criteria Provided
Conflicting Classifications

CA4727987

rs_145169484

4 SubmittersRCV000906589 RCV001164986 RCV001164985 RCV003910840

NM_000037.4(ANK1):c.2830G>A (p.Ala944Thr)

SNV
Germline

Chr8:41696493

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 1
Spherocytosis
ANK1-related disorder

Criteria Provided
Conflicting Classifications

CA4728070

rs_35797405

6 SubmittersRCV000897766 RCV001161489 RCV001161490 RCV003940804

NM_000037.4(ANK1):c.2589C>T (p.Pro863=)

SNV
Germline

Chr8:41698091

Conflicting classifications of pathogenicity

Condition: not provided
Spherocytosis
Hereditary spherocytosis type 1

Criteria Provided
Conflicting Classifications

CA4728168

rs_114870847

3 SubmittersRCV000897960 RCV001165098 RCV001165097

NM_000037.4(ANK1):c.2132A>G (p.Tyr711Cys)

SNV
Germline

Chr8:41704438

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 1
ANK1-related disorder

Criteria Provided
Conflicting Classifications

CA4728349

rs_139375455

4 SubmittersRCV000903376 RCV001804071 RCV003975758

NM_003126.4(SPTA1):c.5457A>G (p.Leu1819=)

SNV
Germline

Chr1:158634651

Conflicting classifications of pathogenicity

Condition: not provided
Pyropoikilocytosis, hereditary
Elliptocytosis 2
Hereditary spherocytosis type 3

Criteria Provided
Conflicting Classifications

CA1182285

rs_186994154

4 SubmittersRCV000917706 RCV001100621 RCV001100622 RCV001100623

NM_003126.4(SPTA1):c.4591G>C (p.Ala1531Pro)

SNV
Germline

Chr1:158642828

Conflicting classifications of pathogenicity

Condition: not provided
Elliptocytosis 2
Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
not specified

Criteria Provided
Conflicting Classifications

CA1182651

rs_143779235

7 SubmittersRCV000917708 RCV001099086 RCV001099087 RCV001099088 RCV004029417

NM_003126.4(SPTA1):c.3472C>T (p.Arg1158Trp)

SNV
Germline

Chr1:158651372

Conflicting classifications of pathogenicity

Condition: not provided
Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Elliptocytosis 2

Criteria Provided
Conflicting Classifications

CA1183053

rs_374770895

3 SubmittersRCV000918783 RCV005392546

NM_000037.4(ANK1):c.4448T>G (p.Leu1483Arg)

SNV
Germline

Chr8:41684633

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 1
not specified

Criteria Provided
Conflicting Classifications

CA4727549

rs_141408004

3 SubmittersRCV000924756 RCV001002429 RCV005231971

NM_000037.4(ANK1):c.4341T>C (p.Ser1447=)

SNV
Germline

Chr8:41686201

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 1
Spherocytosis

Criteria Provided
Conflicting Classifications

CA4727594

rs_112677283

2 SubmittersRCV000912699 RCV001162696 RCV001161141

NM_000037.4(ANK1):c.2982G>A (p.Pro994=)

SNV
Germline

Chr8:41695310

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 1
Spherocytosis

Criteria Provided
Conflicting Classifications

CA4728013

rs_139623406

3 SubmittersRCV000912664 RCV001160074 RCV001160075

NM_000037.4(ANK1):c.483G>A (p.Ala161=)

SNV
Germline

Chr8:41725890

Conflicting classifications of pathogenicity

Spherocytosis
ANK1-related disorder
Condition: not provided
Hereditary spherocytosis type 1

Criteria Provided
Conflicting Classifications

CA4728963

rs_200639644

3 SubmittersRCV001163740 RCV003933000 RCV000912225 RCV001163741

NM_000037.4(ANK1):c.447G>T (p.Ala149=)

SNV
Germline

Chr8:41725926

Conflicting classifications of pathogenicity

Condition: not provided
Spherocytosis
Hereditary spherocytosis type 1

Criteria Provided
Conflicting Classifications

CA4728969

rs_140550365

4 SubmittersRCV000912337 RCV001163743 RCV001163744

NM_000342.4(SLC4A1):c.2193C>T (p.Ser731=)

SNV
Germline

Chr17:44253236

Conflicting classifications of pathogenicity

Condition: not provided
Hemolytic anemia
Autosomal dominant distal renal tubular acidosis
Hereditary spherocytosis type 4
SLC4A1-related disorder

Criteria Provided
Conflicting Classifications

CA8600097

rs_754017629

4 SubmittersRCV000913755 RCV001124391 RCV001124393 RCV001124392 RCV004551799

NM_000037.4(ANK1):c.3570A>C (p.Gly1190=)

SNV
Germline

Chr8:41693164

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 1
Spherocytosis

Criteria Provided
Conflicting Classifications

CA4727836

rs_762382303

2 SubmittersRCV000943243 RCV001159954 RCV001159955

NM_000037.4(ANK1):c.2389-10C>T

SNV
Germline

Chr8:41701632

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 1

Criteria Provided
Conflicting Classifications

CA4728248

rs_764935260

3 SubmittersRCV000941704 RCV001199186

NM_003126.4(SPTA1):c.1351-4A>G

SNV
Germline

Chr1:158672200

Conflicting classifications of pathogenicity

Condition: not provided
Pyropoikilocytosis, hereditary
Elliptocytosis 2
Hereditary spherocytosis type 3
SPTA1-related disorder

Criteria Provided
Conflicting Classifications

CA1183795

rs_200868774

5 SubmittersRCV000958051 RCV001100079 RCV001100080 RCV001100081 RCV004553428

NM_000037.4(ANK1):c.5544+46G>A

SNV
Germline

Chr8:41661830

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 1

Criteria Provided
Conflicting Classifications

CA4727130

rs_114905632

4 SubmittersRCV000972775 RCV001803179

NM_003126.4(SPTA1):c.5263C>G (p.His1755Asp)

SNV
Germline

Chr1:158636688

Likely pathogenic

Hereditary spherocytosis type 3

No Assertion Criteria Provided

CA31264862

rs_377659326

1 SubmittersRCV000985101

NM_003126.4(SPTA1):c.1833+1G>A

SNV
Germline

Chr1:158669407

Pathogenic/Likely pathogenic

Pyropoikilocytosis, hereditary
Condition: not provided
Elliptocytosis 2
Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA31260585

rs_1035389616

6 SubmittersRCV000986445 RCV001508916 RCV005047158

NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp)

SNV
Germline

Chr17:44253151

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 4
SLC4A1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8600090

rs_373916826

9 SubmittersRCV000989925 RCV004740527 RCV002227236

NM_001355436.2(SPTB):c.3679C>T (p.Pro1227Ser)

SNV
Germline

Chr14:64785834

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 2

Criteria Provided
Conflicting Classifications

CA7230553

rs_149186357

5 SubmittersRCV000995192 RCV002249601

NM_001114134.2(EPB42):c.1387G>A (p.Gly463Ser)

SNV
Germline

Chr15:43206561

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 5
Inborn genetic diseases
EPB42-related disorder

Criteria Provided
Conflicting Classifications

CA7520334

rs_148871144

8 SubmittersRCV000995313 RCV001118556 RCV002549907 RCV003396577

NM_003126.4(SPTA1):c.2608G>A (p.Val870Met)

SNV
Germline

Chr1:158657674

Conflicting classifications of pathogenicity

not specified
Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Elliptocytosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1183327

rs_140291959

6 SubmittersRCV001000650 RCV001096158 RCV001096160 RCV001096159 RCV002550739

NM_000037.4(ANK1):c.4306C>T (p.Arg1436Ter)

SNV
Germline

Chr8:41686236

Pathogenic

Hereditary spherocytosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA371057477

rs_1586072383

3 SubmittersRCV001002452 RCV005093024

NM_000037.4(ANK1):c.4153C>T (p.Arg1385Ter)

SNV
Germline

Chr8:41688541

Pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA4727647

rs_750820522

2 SubmittersRCV001002482

NM_000037.4(ANK1):c.3555G>A (p.Trp1185Ter)

SNV
Germline

Chr8:41693179

Pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371059225

rs_1586145051

1 SubmittersRCV001002400

NM_000037.4(ANK1):c.1153C>T (p.Arg385Cys)

SNV
Germline

Chr8:41718159

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis
Condition: not provided
Immunodeficiency 62
ANK1-related disorder

Criteria Provided
Conflicting Classifications

CA4728717

rs_142626656

6 SubmittersRCV001000394 RCV001161824 RCV001869418 RCV003447570 RCV003928656

NM_000037.4(ANK1):c.499G>C (p.Gly167Arg)

SNV
Germline

Chr8:41725874

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4728957

rs_201024919

4 SubmittersRCV001002597 RCV001163455 RCV005093026

NM_001355436.2(SPTB):c.4267C>T (p.Arg1423Ter)

SNV
Germline

Chr14:64779931

Pathogenic

not specified
Condition: not provided
Hereditary spherocytosis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA390044638

rs_1594767593

5 SubmittersRCV001002577 RCV001784539 RCV002290981

NM_001355436.2(SPTB):c.2519G>A (p.Arg840His)

SNV
Germline

Chr14:64793144

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7230848

rs_146326769

6 SubmittersRCV001257426 RCV001811601 RCV002249612

NM_001114134.2(EPB42):c.1124C>T (p.Thr375Met)

SNV
Germline

Chr15:43207393

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 5
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7520390

rs_115972761

5 SubmittersRCV001000900 RCV002549147 RCV004693431

NM_000342.4(SLC4A1):c.733G>A (p.Val245Met)

SNV
Germline

Chr17:44259306

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 4
Hemolytic anemia
Autosomal dominant distal renal tubular acidosis
11 conditions

Criteria Provided
Conflicting Classifications

CA8600480

rs_148170067

6 SubmittersRCV001059827 RCV001123578 RCV001127676 RCV001127677 RCV005012507

NM_001355436.2(SPTB):c.6119C>T (p.Thr2040Ile)

SNV
Germline

Chr14:64767763

Likely pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

CA390039382

rs_1345709572

1 SubmittersRCV001089997

NM_003126.4(SPTA1):c.*387T>C

SNV
Germline

Chr1:158610877

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
Elliptocytosis 2
Pyropoikilocytosis, hereditary

Criteria Provided
Conflicting Classifications

CA31249111

rs_549664412

1 SubmittersRCV001096455 RCV001096457 RCV001096456

NM_003126.4(SPTA1):c.6236G>T (p.Arg2079Leu)

SNV
Germline

Chr1:158620351

Conflicting classifications of pathogenicity

Pyropoikilocytosis, hereditary
Elliptocytosis 2
Hereditary spherocytosis type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1182039

rs_754206036

2 SubmittersRCV001100371 RCV001100372 RCV001100373 RCV003718315

NM_003126.4(SPTA1):c.6235C>T (p.Arg2079Trp)

SNV
Germline

Chr1:158620352

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
Elliptocytosis 2
Pyropoikilocytosis, hereditary
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1182041

rs_372075053

4 SubmittersRCV001100374 RCV001100375 RCV001100376 RCV003142047

NM_003126.4(SPTA1):c.5838T>C (p.Asp1946=)

SNV
Germline

Chr1:158626218

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Elliptocytosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1182165

rs_200330662

4 SubmittersRCV001100509 RCV001100507 RCV001100508 RCV001811653

NM_003126.4(SPTA1):c.5049G>T (p.Gln1683His)

SNV
Germline

Chr1:158638173

Conflicting classifications of pathogenicity

Pyropoikilocytosis, hereditary
Elliptocytosis 2
Hereditary spherocytosis type 3
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1182438

rs_746762359

3 SubmittersRCV001100977 RCV001100976 RCV001100978 RCV004032073 RCV003558667

NM_003126.4(SPTA1):c.4862T>A (p.Phe1621Tyr)

SNV
Germline

Chr1:158639883

Conflicting classifications of pathogenicity

Elliptocytosis 2
Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1182538

rs_374298000

4 SubmittersRCV001098998 RCV001099000 RCV001098999 RCV001811651

NM_003126.4(SPTA1):c.4850G>A (p.Arg1617Gln)

SNV
Germline

Chr1:158639895

Conflicting classifications of pathogenicity

Elliptocytosis 2
Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1182541

rs_564887323

5 SubmittersRCV001100814 RCV001100815 RCV001100816 RCV002261275 RCV004032072

NM_003126.4(SPTA1):c.4708G>A (p.Ala1570Thr)

SNV
Germline

Chr1:158642440

Conflicting classifications of pathogenicity

Elliptocytosis 2
Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1182589

rs_778626016

3 SubmittersRCV001101065 RCV001101066 RCV001101064 RCV003883553

NM_003126.4(SPTA1):c.4240C>T (p.Arg1414Cys)

SNV
Germline

Chr1:158644351

Conflicting classifications of pathogenicity

Elliptocytosis 2
Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1182783

rs_201399968

5 SubmittersRCV001097421 RCV001097422 RCV001097423 RCV002555992

NM_003126.4(SPTA1):c.2971C>T (p.Arg991Cys)

SNV
Germline

Chr1:158654676

Conflicting classifications of pathogenicity

Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Elliptocytosis 2

Criteria Provided
Conflicting Classifications

CA1183219

rs_565611676

1 SubmittersRCV001096034 RCV001096035 RCV001096036

NM_003126.4(SPTA1):c.2600C>A (p.Ala867Glu)

SNV
Germline

Chr1:158657682

Conflicting classifications of pathogenicity

Elliptocytosis 2
Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1183329

rs_115877891

7 SubmittersRCV001097899 RCV001097900 RCV001097901 RCV001811649

NM_003126.4(SPTA1):c.1588G>A (p.Glu530Lys)

SNV
Germline

Chr1:158671354

Conflicting classifications of pathogenicity

Elliptocytosis 2
Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1183711

rs_767641820

3 SubmittersRCV001101974 RCV001101976 RCV001101975 RCV004691374

NM_003126.4(SPTA1):c.1175C>T (p.Ala392Val)

SNV
Germline

Chr1:158674613

Conflicting classifications of pathogenicity

Pyropoikilocytosis, hereditary
Elliptocytosis 2
Hereditary spherocytosis type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1183883

rs_748917509

4 SubmittersRCV001098399 RCV001098398 RCV001098397 RCV003490069

NM_003126.4(SPTA1):c.749G>A (p.Arg250His)

SNV
Germline

Chr1:158678464

Conflicting classifications of pathogenicity

Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Elliptocytosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1184045

rs_759192785

4 SubmittersRCV001096845 RCV001096846 RCV001098601 RCV001811648

NM_003126.4(SPTA1):c.551T>G (p.Val184Gly)

SNV
Germline

Chr1:158680710

Conflicting classifications of pathogenicity

Elliptocytosis 2
Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1184099

rs_746827368

3 SubmittersRCV001100378 RCV001100377 RCV001100379 RCV003736976 RCV004032064

NM_003126.4(SPTA1):c.326C>T (p.Ser109Phe)

SNV
Germline

Chr1:158683435

Conflicting classifications of pathogenicity

Pyropoikilocytosis, hereditary
Elliptocytosis 2
Hereditary spherocytosis type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1184197

rs_3737521

3 SubmittersRCV001098694 RCV001098695 RCV001098696 RCV001811650

NM_003126.4(SPTA1):c.47A>T (p.Lys16Met)

SNV
Germline

Chr1:158685325

Conflicting classifications of pathogenicity

Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Elliptocytosis 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1184264

rs_201634881

4 SubmittersRCV001098792 RCV001098791 RCV001098790 RCV003490070 RCV004671220

NM_003126.4(SPTA1):c.6601-10G>A

SNV
Germline

Chr1:158615413

Conflicting classifications of pathogenicity

Pyropoikilocytosis, hereditary
Elliptocytosis 2
Hereditary spherocytosis type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1181908

rs_753769799

2 SubmittersRCV001098498 RCV001098497 RCV001098499 RCV005093475

NM_003126.4(SPTA1):c.5311-4T>A

SNV
Germline

Chr1:158636038

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
Elliptocytosis 2
Pyropoikilocytosis, hereditary
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1182334

rs_544472935

5 SubmittersRCV001097153 RCV001097154 RCV001098897 RCV002511035

NM_003126.4(SPTA1):c.4875+12C>T

SNV
Germline

Chr1:158639858

Conflicting classifications of pathogenicity

Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Elliptocytosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1182532

rs_139797540

3 SubmittersRCV001098995 RCV001098996 RCV001098997 RCV002554931

NM_003126.4(SPTA1):c.3715-11T>C

SNV
Germline

Chr1:158647731

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
Pyropoikilocytosis, hereditary
Elliptocytosis 2

Criteria Provided
Conflicting Classifications

CA1182946

rs_147184530

1 SubmittersRCV001101274 RCV001101275 RCV001101276

NM_001114134.2(EPB42):c.1636G>A (p.Gly546Ser)

SNV
Germline

Chr15:43203258

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7520258

rs_369068948

2 SubmittersRCV001118554 RCV003246699

NM_001114134.2(EPB42):c.1602G>A (p.Thr534=)

SNV
Germline

Chr15:43206346

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 5
Condition: not provided
EPB42-related disorder

Criteria Provided
Conflicting Classifications

CA7520303

rs_149742998

4 SubmittersRCV001118555 RCV002069920 RCV003928719

NM_001114134.2(EPB42):c.1041G>T (p.Gln347His)

SNV
Germline

Chr15:43208264

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 5
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7520419

rs_574359460

5 SubmittersRCV001120088 RCV001508384 RCV003987785

NM_000342.4(SLC4A1):c.*1393A>T

SNV
Germline

Chr17:44249065

Conflicting classifications of pathogenicity

Autosomal dominant distal renal tubular acidosis
Hereditary spherocytosis type 4
Hemolytic anemia

Criteria Provided
Conflicting Classifications

CA290923988

rs_139308660

1 SubmittersRCV001126533 RCV001128591 RCV001128592

NM_000342.4(SLC4A1):c.*5C>T

SNV
Germline

Chr17:44250453

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 4
Hemolytic anemia
Autosomal dominant distal renal tubular acidosis

Criteria Provided
Conflicting Classifications

CA8599943

rs_748428663

1 SubmittersRCV001127257 RCV001127259 RCV001127258

NM_000342.4(SLC4A1):c.2716G>C (p.Glu906Gln)

SNV
Germline

Chr17:44250478

Conflicting classifications of pathogenicity

Hemolytic anemia
Autosomal dominant distal renal tubular acidosis
Hereditary spherocytosis type 4
Condition: not provided
not specified
Autosomal dominant distal renal tubular acidosis
Renal tubular acidosis, distal, 4, with hemolytic anemia

Criteria Provided
Conflicting Classifications

CA8599948

rs_199694087

5 SubmittersRCV001127262 RCV001127261 RCV001127260 RCV002070082 RCV002249736 RCV005624454

NM_000342.4(SLC4A1):c.2625G>A (p.Pro875=)

SNV
Germline

Chr17:44251189

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 4
Autosomal dominant distal renal tubular acidosis
Hemolytic anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8599986

rs_202243808

2 SubmittersRCV001124274 RCV001124272 RCV001124273 RCV001882409

NM_000342.4(SLC4A1):c.2547G>A (p.Val849=)

SNV
Germline

Chr17:44251267

Conflicting classifications of pathogenicity

Hemolytic anemia
Hereditary spherocytosis type 4
Autosomal dominant distal renal tubular acidosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8600000

rs_753357599

2 SubmittersRCV001127357 RCV001127359 RCV001127358 RCV002556785

NM_000342.4(SLC4A1):c.2401A>C (p.Ser801Arg)

SNV
Germline

Chr17:44251499

Conflicting classifications of pathogenicity

Hemolytic anemia
Hereditary spherocytosis type 4
Autosomal dominant distal renal tubular acidosis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8600038

rs_775095594

3 SubmittersRCV001123288 RCV001123287 RCV001123289 RCV003142050 RCV003283988

NM_000342.4(SLC4A1):c.1971C>T (p.Ser657=)

SNV
Germline

Chr17:44254582

Conflicting classifications of pathogenicity

Hemolytic anemia
Hereditary spherocytosis type 4
Autosomal dominant distal renal tubular acidosis

Criteria Provided
Conflicting Classifications

CA8600156

rs_200107906

1 SubmittersRCV001125392 RCV001125393 RCV001127474

NM_000342.4(SLC4A1):c.1928C>T (p.Ser643Phe)

SNV
Germline

Chr17:44254625

Conflicting classifications of pathogenicity

Autosomal dominant distal renal tubular acidosis
Hemolytic anemia
Hereditary spherocytosis type 4

Criteria Provided
Conflicting Classifications

CA8600164

rs_763988041

1 SubmittersRCV001123372 RCV001123373 RCV001127478

NM_000342.4(SLC4A1):c.1671G>A (p.Val557=)

SNV
Germline

Chr17:44255802

Conflicting classifications of pathogenicity

Hemolytic anemia
Hereditary spherocytosis type 4
Autosomal dominant distal renal tubular acidosis
SLC4A1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8600221

rs_147838240

3 SubmittersRCV001124476 RCV001124475 RCV001124477 RCV004547995 RCV003727881

NM_000342.4(SLC4A1):c.1258G>A (p.Ala420Thr)

SNV
Germline

Chr17:44258010

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 4
Hemolytic anemia
Autosomal dominant distal renal tubular acidosis
11 conditions
Condition: not provided
SLC4A1-related disorder

Criteria Provided
Conflicting Classifications

CA8600338

rs_142905862

6 SubmittersRCV001127589 RCV001127590 RCV001127591 RCV005012582 RCV001362841 RCV004740575

NM_000342.4(SLC4A1):c.1151G>A (p.Arg384His)

SNV
Germline

Chr17:44258117

Conflicting classifications of pathogenicity

Hemolytic anemia
Autosomal dominant distal renal tubular acidosis
Hereditary spherocytosis type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8600364

rs_13306776

4 SubmittersRCV001124569 RCV001124571 RCV001124570 RCV002558229

NM_000342.4(SLC4A1):c.826A>G (p.Ile276Val)

SNV
Germline

Chr17:44259213

Conflicting classifications of pathogenicity

Hemolytic anemia
Autosomal dominant distal renal tubular acidosis
Hereditary spherocytosis type 4
Condition: not provided
11 conditions

Criteria Provided
Conflicting Classifications

CA8600454

rs_746406399

5 SubmittersRCV001127671 RCV001127672 RCV001127670 RCV001241221 RCV005012583

NM_000342.4(SLC4A1):c.719C>T (p.Pro240Leu)

SNV
Germline

Chr17:44259320

Conflicting classifications of pathogenicity

Hemolytic anemia
Autosomal dominant distal renal tubular acidosis
Hereditary spherocytosis type 4
not specified

Criteria Provided
Conflicting Classifications

CA8600484

rs_764833865

2 SubmittersRCV001123579 RCV001123580 RCV001123581 RCV004800700

NM_000342.4(SLC4A1):c.706T>G (p.Phe236Val)

SNV
Germline

Chr17:44259333

Conflicting classifications of pathogenicity

Autosomal dominant distal renal tubular acidosis
Hemolytic anemia
Hereditary spherocytosis type 4
Condition: not provided
Autosomal dominant distal renal tubular acidosis
Renal tubular acidosis, distal, 4, with hemolytic anemia

Criteria Provided
Conflicting Classifications

CA8600487

rs_141605301

3 SubmittersRCV001123583 RCV001123582 RCV001123584 RCV001221611 RCV005624453

NM_000342.4(SLC4A1):c.672A>G (p.Ser224=)

SNV
Germline

Chr17:44259519

Conflicting classifications of pathogenicity

Autosomal dominant distal renal tubular acidosis
Hereditary spherocytosis type 4
Hemolytic anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8600515

rs_772317162

2 SubmittersRCV001124655 RCV001124656 RCV001124657 RCV002558230

NM_000342.4(SLC4A1):c.615T>C (p.Asp205=)

SNV
Germline

Chr17:44259576

Conflicting classifications of pathogenicity

Hemolytic anemia
Autosomal dominant distal renal tubular acidosis
Hereditary spherocytosis type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8600525

rs_5038

4 SubmittersRCV001125661 RCV001125659 RCV001125660 RCV001811668

NM_000342.4(SLC4A1):c.567C>G (p.Leu189=)

SNV
Germline

Chr17:44259851

Conflicting classifications of pathogenicity

Hemolytic anemia
Hereditary spherocytosis type 4
Autosomal dominant distal renal tubular acidosis
Condition: not provided
SLC4A1-related disorder

Criteria Provided
Conflicting Classifications

CA8600559

rs_746103796

3 SubmittersRCV001125662 RCV001125663 RCV001127761 RCV003698838 RCV004548003

NM_000342.4(SLC4A1):c.486-10C>T

SNV
Germline

Chr17:44259942

Conflicting classifications of pathogenicity

Hemolytic anemia
Hereditary spherocytosis type 4
Autosomal dominant distal renal tubular acidosis

Criteria Provided
Conflicting Classifications

CA8600575

rs_376999476

1 SubmittersRCV001127767 RCV001127765 RCV001127766

NM_000342.4(SLC4A1):c.349+15C>G

SNV
Germline

Chr17:44260620

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 4
Autosomal dominant distal renal tubular acidosis
Hemolytic anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8600636

rs_541501285

2 SubmittersRCV001121979 RCV001121981 RCV001121980 RCV001507387

NM_000037.4(ANK1):c.*1892G>A

SNV
Germline

Chr8:41653898

Conflicting classifications of pathogenicity

Spherocytosis
Hereditary spherocytosis type 1

Criteria Provided
Conflicting Classifications

CA175909853

rs_116365681

1 SubmittersRCV001159318 RCV001159319

NM_000037.4(ANK1):c.*857C>A

SNV
Germline

Chr8:41654933

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis

Criteria Provided
Conflicting Classifications

CA175910128

rs_138767348

1 SubmittersRCV001160783 RCV001160784

NM_000037.4(ANK1):c.*821C>T

SNV
Germline

Chr8:41654969

Conflicting classifications of pathogenicity

Spherocytosis
Hereditary spherocytosis type 1

Criteria Provided
Conflicting Classifications

CA175910134

rs_115248068

1 SubmittersRCV001162401 RCV001162402

NM_000037.4(ANK1):c.*395T>A

SNV
Germline

Chr8:41655395

Conflicting classifications of pathogenicity

Spherocytosis
Hereditary spherocytosis type 1

Criteria Provided
Conflicting Classifications

CA175910269

rs_550204540

1 SubmittersRCV001159516 RCV001159517

NM_000037.4(ANK1):c.*8C>A

SNV
Germline

Chr8:41661458

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis

Criteria Provided
Conflicting Classifications

CA4727044

rs_146341756

2 SubmittersRCV001162507 RCV001162506

NM_000037.4(ANK1):c.5520C>T (p.Ala1840=)

SNV
Germline

Chr8:41661900

Conflicting classifications of pathogenicity

Spherocytosis
Hereditary spherocytosis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4727142

rs_116148295

2 SubmittersRCV001164547 RCV001164548 RCV003737009

NM_000037.4(ANK1):c.4136C>T (p.Pro1379Leu)

SNV
Germline

Chr8:41688558

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4727653

rs_748160803

4 SubmittersRCV001162701 RCV001164753 RCV004986856 RCV003769785

NM_000037.4(ANK1):c.3829G>A (p.Val1277Met)

SNV
Germline

Chr8:41692677

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis
Condition: not provided
ANK1-related disorder

Criteria Provided
Conflicting Classifications

CA4727773

rs_148942046

5 SubmittersRCV001162798 RCV001162797 RCV001815502 RCV003938535

NM_000037.4(ANK1):c.1859G>A (p.Ser620Asn)

SNV
Germline

Chr8:41708917

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4728442

rs_750068521

5 SubmittersRCV001163123 RCV002261295 RCV004986858

NM_000037.4(ANK1):c.1197G>A (p.Ala399=)

SNV
Germline

Chr8:41718115

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4728703

rs_756075877

3 SubmittersRCV001158604 RCV001158603 RCV003425961

NM_000037.4(ANK1):c.1194C>T (p.Asp398=)

SNV
Germline

Chr8:41718118

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4728706

rs_148471199

2 SubmittersRCV001158605 RCV003718372

NM_000037.4(ANK1):c.997G>A (p.Asp333Asn)

SNV
Germline

Chr8:41719771

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Condition: not provided
ANK1-related disorder
See cases

Criteria Provided
Conflicting Classifications

CA4728769

rs_147608206

6 SubmittersRCV001163344 RCV002067984 RCV003908415 RCV002252320

NM_000037.4(ANK1):c.528C>T (p.Ala176=)

SNV
Germline

Chr8:41725845

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis

Criteria Provided
Conflicting Classifications

CA4728946

rs_544906793

1 SubmittersRCV001163453 RCV001163454

NM_000037.4(ANK1):c.4105-5T>G

SNV
Germline

Chr8:41688594

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis
Condition: not provided
ANK1-related disorder

Criteria Provided
Conflicting Classifications

CA4727662

rs_768183148

5 SubmittersRCV001164754 RCV001164755 RCV002557409 RCV003945886

NM_003126.4(SPTA1):c.2320C>T (p.Arg774Ter)

SNV
Germline

Chr1:158662846

Pathogenic/Likely pathogenic

Hereditary spherocytosis type 3
Condition: not provided
Elliptocytosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1183440

rs_751026146

3 SubmittersRCV001198343 RCV003490109 RCV005429051

NM_000037.4(ANK1):c.4855G>T (p.Glu1619Ter)

SNV
Unknown

Chr8:41672595

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371053938

rs_774067157

1 SubmittersRCV001198178

NM_003126.4(SPTA1):c.4347G>T (p.Lys1449Asn)

SNV
Germline

Chr1:158643417

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Hereditary spherocytosis type 3

Criteria Provided
Conflicting Classifications

CA1182736

rs_375506528

6 SubmittersRCV001265821 RCV001880101 RCV004789501

NM_003126.4(SPTA1):c.4339-99C>T

SNV
Germline

Chr1:158643524

Pathogenic/Likely pathogenic

Elliptocytosis 2
Hereditary spherocytosis
SPTA1-related disorder
Pyropoikilocytosis, hereditary
Hereditary spherocytosis type 3
Elliptocytosis 2
Pyropoikilocytosis, hereditary
Condition: not provided
Hereditary spherocytosis type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA31267577

rs_200830867

13 SubmittersRCV002246311 RCV001449698 RCV004548177 RCV002504518 RCV003152762 RCV001507483 RCV001804163

NM_003126.4(SPTA1):c.3477+1G>C

SNV
Germline

Chr1:158651366

Pathogenic

Hereditary spherocytosis type 3

Criteria Provided
Single Submitter

CA343036569

rs_2101857591

1 SubmittersRCV001534598

NM_000037.4(ANK1):c.4057C>T (p.Gln1353Ter)

SNV
Germline

Chr8:41690274

Pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA371058054

rs_2150585752

2 SubmittersRCV001534607

NM_001355436.2(SPTB):c.4842+1G>C

SNV
Germline

Chr14:64775124

Pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

CA390043379

rs_2139513700

1 SubmittersRCV001534601

NM_001355436.2(SPTB):c.3936G>A (p.Trp1312Ter)

SNV
Germline

Chr14:64784313

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spherocytosis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA390045377

rs_2139555500

2 SubmittersRCV001507846 RCV001534600

NM_001355436.2(SPTB):c.2278C>T (p.Gln760Ter)

SNV
Germline

Chr14:64793385

Pathogenic

Hereditary spherocytosis type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA390018258

rs_2139594261

2 SubmittersRCV001534603 RCV001871646

NM_001355436.2(SPTB):c.1024C>T (p.Gln342Ter)

SNV
Germline

Chr14:64799787

Pathogenic

Hereditary spherocytosis type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA390029017

rs_2139621075

2 SubmittersRCV001534602 RCV003120529

NM_001114134.2(EPB42):c.832G>C (p.Val278Leu)

SNV
Germline

Chr15:43209274

Likely pathogenic

Hereditary spherocytosis type 5

Criteria Provided
Single Submitter

CA7520510

rs_772330879

1 SubmittersRCV001534608

NM_001114134.2(EPB42):c.323C>T (p.Thr108Ile)

SNV
Germline

Chr15:43215202

Likely pathogenic

Hereditary spherocytosis type 5

Criteria Provided
Single Submitter

CA392121356

rs_2142314789

1 SubmittersRCV001534609

NM_000342.4(SLC4A1):c.2312G>T (p.Gly771Val)

SNV
Germline

Chr17:44251588

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 4
11 conditions

Criteria Provided
Conflicting Classifications

CA399781304

rs_121912741

2 SubmittersRCV001534596 RCV004796408

NM_000342.4(SLC4A1):c.2269A>T (p.Lys757Ter)

SNV
Germline

Chr17:44253160

Pathogenic

Hereditary spherocytosis type 4

Criteria Provided
Single Submitter

CA399781461

rs_2144601154

1 SubmittersRCV001534595

NM_000037.4(ANK1):c.3984+2T>C

SNV
Germline

Chr8:41690472

Pathogenic/Likely pathogenic

Hereditary spherocytosis type 1
Condition: not provided
ANK1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA371058219

rs_1818974494

4 SubmittersRCV001286718 RCV002537948 RCV004727076

NM_000037.4(ANK1):c.2389-1G>A

SNV
Germline

Chr8:41701623

Pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371065119

rs_1822828039

1 SubmittersRCV001287845

NM_000037.4(ANK1):c.2164C>T (p.Gln722Ter)

SNV
Germline

Chr8:41704406

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spherocytosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA371066661

rs_747701761

3 SubmittersRCV004793377 RCV001286935

NM_000037.4(ANK1):c.1891G>T (p.Glu631Ter)

SNV
Germline

Chr8:41708885

Pathogenic

Hereditary spherocytosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA371067910

rs_1825406258

2 SubmittersRCV001286066 RCV005428163

NM_000037.4(ANK1):c.841C>T (p.Arg281Ter)

SNV
Germline

Chr8:41723193

Pathogenic

Hereditary spherocytosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA371042112

rs_1829712320

7 SubmittersRCV001287819 RCV001508247

NM_000037.4(ANK1):c.-204C>G

SNV
Germline

Chr8:41797742

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA175931457

rs_117184692

4 SubmittersRCV001285464 RCV003426026

NM_001355436.2(SPTB):c.4735C>T (p.Arg1579Ter)

SNV
Germline

Chr14:64775232

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spherocytosis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA390043618

rs_760938057

6 SubmittersRCV001508365 RCV004789514

NM_000342.4(SLC4A1):c.609+1G>A

SNV
Germline

Chr17:44259808

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA399793154

rs_1362663440

4 SubmittersRCV004789515 RCV001813178

NM_003126.4(SPTA1):c.6788+11C>T

SNV
Germline

Chr1:158615205

Pathogenic

Hereditary spherocytosis
Hereditary spherocytosis type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA1181863

rs_779537034

2 SubmittersRCV001290767 RCV003234029

NM_001355436.2(SPTB):c.4105A>G (p.Lys1369Glu)

SNV
Germline

Chr14:64782451

Conflicting classifications of pathogenicity

Elliptocytosis 3
Hereditary spherocytosis type 2
Condition: not provided
Elliptocytosis 3
Hereditary spherocytosis type 2

Criteria Provided
Conflicting Classifications

CA7230403

rs_760803657

5 SubmittersRCV001329813 RCV002290996 RCV003481074 RCV005394949

NM_001355436.2(SPTB):c.774G>A (p.Thr258=)

SNV
Germline

Chr14:64800858

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7231325

rs_12435635

4 SubmittersRCV001329817 RCV002261340

NM_003126.4(SPTA1):c.3139C>T (p.Arg1047Ter)

SNV
Germline

Chr1:158653323

Pathogenic

Condition: not provided
Hereditary spherocytosis type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA343037995

rs_762088983

4 SubmittersRCV001507486 RCV002250762

NM_003126.4(SPTA1):c.2671C>T (p.Arg891Ter)

SNV
Germline

Chr1:158657611

Pathogenic

Condition: not provided
Hereditary spherocytosis type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA1183313

rs_755630903

7 SubmittersRCV001508908 RCV004789641

NM_003126.4(SPTA1):c.660T>A (p.Tyr220Ter)

SNV
Germline

Chr1:158680601

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spherocytosis type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA343020460

rs_2101942740

2 SubmittersRCV001509083 RCV002291000

NM_000037.4(ANK1):c.4000C>T (p.Arg1334Ter)

SNV
Germline

Chr8:41690331

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spherocytosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA371058175

rs_1172677213

5 SubmittersRCV001509336 RCV001564049

NM_000037.4(ANK1):c.3386G>T (p.Ser1129Ile)

SNV
Germline

Chr8:41694044

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 1

Criteria Provided
Conflicting Classifications

CA371059582

rs_2150592257

2 SubmittersRCV001509337 RCV003490264

NM_000037.4(ANK1):c.2960+1G>A

SNV
Germline

Chr8:41696362

Likely pathogenic

Condition: not provided
Hereditary spherocytosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA371061851

rs_2150596703

2 SubmittersRCV001509341 RCV003132510

NM_000037.4(ANK1):c.2197-17G>A

SNV
Germline

Chr8:41704156

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 1

Criteria Provided
Conflicting Classifications

CA4728317

rs_188360816

3 SubmittersRCV001509344 RCV001803333

NM_000037.4(ANK1):c.2098-5T>C

SNV
Germline

Chr8:41704477

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 1

Criteria Provided
Conflicting Classifications

CA2499219305

rs_2150613009

3 SubmittersRCV001509345 RCV003490265

NM_001355436.2(SPTB):c.6068C>T (p.Ala2023Val)

SNV
Germline

Chr14:64767814

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 2
SPTB-related disorder

Criteria Provided
Conflicting Classifications

CA7229762

rs_367841692

4 SubmittersRCV001508357 RCV003333161 RCV003399263

NM_001355436.2(SPTB):c.4291C>T (p.Arg1431Ter)

SNV
Germline

Chr14:64779907

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spherocytosis type 2
Chudley-McCullough syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA7230343

rs_757836263

6 SubmittersRCV001507841 RCV004762150 RCV004813174

NM_001355436.2(SPTB):c.1912C>T (p.Arg638Ter)

SNV
Germline

Chr14:64793751

Pathogenic

Condition: not provided
Hereditary spherocytosis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA390020545

rs_2139596300

5 SubmittersRCV001508729 RCV003326582

NM_001114134.2(EPB42):c.620A>G (p.Gln207Arg)

SNV
Germline

Chr15:43210369

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Hereditary spherocytosis type 5

Criteria Provided
Conflicting Classifications

CA7520574

rs_758323919

4 SubmittersRCV001507866 RCV003284360 RCV003145676

NM_001114134.2(EPB42):c.256G>T (p.Asp86Tyr)

SNV
Germline

Chr15:43215269

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 5

Criteria Provided
Conflicting Classifications

CA7520647

rs_113768282

4 SubmittersRCV001507869 RCV002227276

NM_000342.4(SLC4A1):c.1468C>T (p.Arg490Cys)

SNV
Germline

Chr17:44257508

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spherocytosis type 4
SLC4A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA399785930

rs_1398477044

7 SubmittersRCV001507382 RCV002290998 RCV004728747

NM_001355436.2(SPTB):c.3877A>T (p.Lys1293Ter)

SNV
Germline

Chr14:64784372

Likely pathogenic

Hereditary spherocytosis type 2

No Assertion Criteria Provided

CA390045499

rs_763084936

1 SubmittersRCV001822889

NM_000037.4(ANK1):c.4465C>T (p.Gln1489Ter)

SNV
Germline

Chr8:41684616

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spherocytosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA371057127

rs_1187228917

2 SubmittersRCV002539780 RCV001728105

NM_000037.4(ANK1):c.3629+2T>C

SNV
Germline

Chr8:41693103

Pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371059057

rs_2150590331

1 SubmittersRCV001728112

NM_000037.4(ANK1):c.2098-1G>T

SNV
Germline/somatic

Chr8:41704473

Pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371066986

rs_2150612992

2 SubmittersRCV001731172

NM_000037.4(ANK1):c.4098C>A (p.Cys1366Ter)

SNV
Somatic

Chr8:41690233

Pathogenic

Hereditary spherocytosis type 1

No Assertion Criteria Provided

CA371057964

rs_538989808

1 SubmittersRCV001731173

NM_000037.4(ANK1):c.712-2A>T

SNV
Germline

Chr8:41723635

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371043173

rs_2150653010

1 SubmittersRCV001785924

NM_000037.4(ANK1):c.2961-2A>G

SNV
Germline

Chr8:41695333

Pathogenic/Likely pathogenic

Hereditary spherocytosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA371061792

rs_2150594692

2 SubmittersRCV001785925 RCV003481128

NM_000037.4(ANK1):c.3928C>T (p.Gln1310Ter)

SNV
Germline

Chr8:41690530

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371058347

rs_2150586181

1 SubmittersRCV001785927

NM_000037.4(ANK1):c.3157C>T (p.Arg1053Ter)

SNV
Germline

Chr8:41694762

Pathogenic

Hereditary spherocytosis type 1
Condition: not provided
ANK1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA371060741

rs_2150593517

4 SubmittersRCV001785929 RCV001885175 RCV003416450

NM_000037.4(ANK1):c.1895C>A (p.Ser632Ter)

SNV
Germline

Chr8:41708881

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371067889

rs_749423708

1 SubmittersRCV001785933

NM_000037.4(ANK1):c.2558+2T>C

SNV
Germline

Chr8:41699450

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371063904

rs_2150602525

1 SubmittersRCV001785934

NM_000037.4(ANK1):c.1124T>G (p.Leu375Ter)

SNV
Germline

Chr8:41718188

Pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371040118

rs_2150641057

1 SubmittersRCV001803633

NM_000037.4(ANK1):c.5600C>T (p.Ala1867Val)

SNV
Germline

Chr8:41661509

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1

Criteria Provided
Conflicting Classifications

CA4727063

rs_767580738

2 SubmittersRCV001802276

NM_000037.4(ANK1):c.2803C>T (p.Arg935Ter)

SNV
Germline

Chr8:41696520

Pathogenic

Condition: not provided
Hereditary spherocytosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA371062318

rs_2150597061

6 SubmittersRCV001869471 RCV001802420

NM_000037.4(ANK1):c.409C>T (p.Gln137Ter)

SNV
Germline

Chr8:41727267

Pathogenic/Likely pathogenic

Hereditary spherocytosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA371045029

rs_2150661792

4 SubmittersRCV001802573 RCV003481130

NM_000037.4(ANK1):c.1702-2A>G

SNV
Germline

Chr8:41714256

Pathogenic/Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA371069545

rs_1554567249

2 SubmittersRCV001802754

NM_003126.4(SPTA1):c.3841C>T (p.Arg1281Cys)

SNV
Germline

Chr1:158647594

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spherocytosis type 3

Criteria Provided
Conflicting Classifications

CA1182919

rs_199685020

6 SubmittersRCV001806280 RCV003444931

NM_001355436.2(SPTB):c.1182+2T>C

SNV
Germline

Chr14:64797727

Likely pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

CA390026443

rs_2139613101

1 SubmittersRCV001805745

NM_001355436.2(SPTB):c.5446A>T (p.Lys1816Ter)

SNV
Germline

Chr14:64772687

Likely pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

CA390040882

rs_1480466529

1 SubmittersRCV001807992

NM_000037.4(ANK1):c.5108G>A (p.Trp1703Ter)

SNV
Germline

Chr8:41668553

Pathogenic/Likely pathogenic

Hereditary spherocytosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA371052255

rs_2150556792

2 SubmittersRCV001808148 RCV005095216

NM_000037.4(ANK1):c.4390+1G>A

SNV
Germline

Chr8:41686151

Likely pathogenic

Condition: not provided
Hereditary spherocytosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA371057287

rs_2150580336

2 SubmittersRCV002031289 RCV003130683

NM_000037.4(ANK1):c.4414C>T (p.Gln1472Ter)

SNV
Germline

Chr8:41684667

Pathogenic

Condition: not provided
Hereditary spherocytosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA371057225

rs_1228535558

2 SubmittersRCV001884612 RCV002291004

NM_000037.4(ANK1):c.856C>T (p.Arg286Ter)

SNV
Germline

Chr8:41723178

Pathogenic

Condition: not provided
Hereditary spherocytosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA371042049

rs_2150651762

5 SubmittersRCV001942222 RCV003490972

NM_001355436.2(SPTB):c.4873C>T (p.Arg1625Ter)

SNV
Germline

Chr14:64774497

Pathogenic

Condition: not provided
Hereditary spherocytosis type 2
SPTB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA390043296

rs_2139511447

7 SubmittersRCV001994865 RCV002291006 RCV003948842

NM_000037.4(ANK1):c.5192C>G (p.Ser1731Ter)

SNV
Germline

Chr8:41668469

Pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371051711

rs_2487607030

1 SubmittersRCV002291007

NM_000037.4(ANK1):c.5071C>T (p.Gln1691Ter)

SNV
Germline

Chr8:41672379

Pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371053417

rs_2487635203

1 SubmittersRCV002291009

NM_000037.4(ANK1):c.1305+1G>A

SNV
Germline

Chr8:41717603

Pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA371039733

rs_2486928338

2 SubmittersRCV002291010

NM_000037.4(ANK1):c.1405-9G>A

SNV
Germline

Chr8:41715858

Likely pathogenic

Hereditary spherocytosis type 1
ANK1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2580078348

rs_2486915489

5 SubmittersRCV002291011 RCV003916392

NM_000037.4(ANK1):c.1602+1G>C

SNV
Germline

Chr8:41715651

Pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371069891

rs_2486913461

1 SubmittersRCV002291012

NM_000037.4(ANK1):c.3629+1G>C

SNV
Unknown

Chr8:41693104

Pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371059060

rs_2486762991

1 SubmittersRCV002291013

NM_000342.4(SLC4A1):c.2165C>T (p.Pro722Leu)

SNV
Germline

Chr17:44253264

Likely pathogenic

Hereditary spherocytosis type 4

Criteria Provided
Single Submitter

CA399781677

rs_2509960984

1 SubmittersRCV002291015

NM_000342.4(SLC4A1):c.370C>T (p.Gln124Ter)

SNV
Germline

Chr17:44260519

Pathogenic

Hereditary spherocytosis type 4

Criteria Provided
Single Submitter

CA399795348

rs_1162787335

1 SubmittersRCV002291016

NM_000342.4(SLC4A1):c.331C>T (p.Arg111Cys)

SNV
Germline

Chr17:44260653

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8600642

rs_13306774

3 SubmittersRCV002291017 RCV003101250

NM_000342.4(SLC4A1):c.2116C>A (p.Leu706Met)

SNV
Germline

Chr17:44253313

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 4
Condition: not provided
11 conditions

Criteria Provided
Conflicting Classifications

CA8600115

rs_758335896

3 SubmittersRCV002291018 RCV003138099 RCV005008481

NM_000342.4(SLC4A1):c.2369G>A (p.Gly790Asp)

SNV
Germline

Chr17:44251531

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA399781120

rs_2509958887

2 SubmittersRCV002291019 RCV003093866

NM_000037.4(ANK1):c.319C>T (p.Gln107Ter)

SNV
Unknown

Chr8:41727916

Pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371046549

rs_2487001985

1 SubmittersRCV002291020

NM_000342.4(SLC4A1):c.2159G>T (p.Gly720Val)

SNV
Germline

Chr17:44253270

Likely pathogenic

Hereditary spherocytosis type 4

Criteria Provided
Single Submitter

CA399781690

rs_2509960998

1 SubmittersRCV002291021

NM_000342.4(SLC4A1):c.910C>T (p.Arg304Ter)

SNV
Germline

Chr17:44258590

Pathogenic

Hereditary spherocytosis type 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8600426

rs_757158425

2 SubmittersRCV002291022 RCV005232912

NM_003126.4(SPTA1):c.2768A>G (p.Asp923Gly)

SNV
Germline

Chr1:158657514

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA343039907

rs_2101877463

2 SubmittersRCV002291025 RCV003138100

NM_003126.4(SPTA1):c.1700T>C (p.Leu567Pro)

SNV
Germline

Chr1:158669541

Likely pathogenic

Hereditary spherocytosis type 3

Criteria Provided
Single Submitter

CA343009073

rs_2525254041

1 SubmittersRCV002291026

NM_003126.4(SPTA1):c.4823G>A (p.Arg1608His)

SNV
Germline

Chr1:158639922

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1182548

rs_781244377

2 SubmittersRCV002291027 RCV004779264

NM_003126.4(SPTA1):c.5269C>T (p.Arg1757Cys)

SNV
Germline

Chr1:158636682

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 3
SPTA1-related disorder

Criteria Provided
Conflicting Classifications

CA1182373

rs_754598605

2 SubmittersRCV002291028 RCV004548241

NM_000037.4(ANK1):c.1365T>G (p.Tyr455Ter)

SNV
Germline

Chr8:41716992

Pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371070734

rs_2486923136

1 SubmittersRCV002291029

NM_003126.4(SPTA1):c.4443-1G>A

SNV
Germline

Chr1:158642977

Pathogenic

Hereditary spherocytosis type 3

Criteria Provided
Single Submitter

CA343031064

rs_2525027053

1 SubmittersRCV002291031

NM_001355436.2(SPTB):c.146C>T (p.Ala49Val)

SNV
Germline

Chr14:64822949

Likely pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

CA390038167

rs_2503301874

1 SubmittersRCV002291032

NM_001355436.2(SPTB):c.3841C>T (p.Gln1281Ter)

SNV
Germline

Chr14:64785551

Pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

CA390045595

rs_2503119189

1 SubmittersRCV002291033

NM_001355436.2(SPTB):c.493C>T (p.Gln165Ter)

SNV
Germline

Chr14:64802299

Pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

CA390032935

rs_2139632398

1 SubmittersRCV002291034

NM_001355436.2(SPTB):c.5464G>T (p.Glu1822Ter)

SNV
Germline

Chr14:64772669

Pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

CA390040848

rs_763716590

1 SubmittersRCV002291036

NM_001355436.2(SPTB):c.472C>T (p.Gln158Ter)

SNV
Germline

Chr14:64803609

Pathogenic/Likely pathogenic

Hereditary spherocytosis type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA390034243

rs_2503219666

2 SubmittersRCV002291038 RCV003130693

NM_001355436.2(SPTB):c.3351C>A (p.Tyr1117Ter)

SNV
Germline

Chr14:64786614

Pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

CA390046684

rs_1182150046

1 SubmittersRCV002291040

NM_001355436.2(SPTB):c.467G>C (p.Arg156Pro)

SNV
Germline

Chr14:64803614

Pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

CA390034260

rs_767566180

1 SubmittersRCV002291041

NM_001355436.2(SPTB):c.2659C>T (p.Gln887Ter)

SNV
Germline

Chr14:64793004

Pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

CA390015809

rs_2503156034

1 SubmittersRCV002291043

NM_001355436.2(SPTB):c.4417C>T (p.Gln1473Ter)

SNV
Germline

Chr14:64779781

Pathogenic/Likely pathogenic

Hereditary spherocytosis type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA390044322

rs_2503090652

2 SubmittersRCV002291046 RCV004793742

NM_001355436.2(SPTB):c.85G>T (p.Glu29Ter)

SNV
Germline

Chr14:64823010

Pathogenic

Hereditary spherocytosis type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA390038307

rs_777962458

2 SubmittersRCV002291049 RCV003688951

NM_001355436.2(SPTB):c.2165C>A (p.Ser722Ter)

SNV
Germline

Chr14:64793498

Pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

CA390018812

rs_150328574

1 SubmittersRCV002291051

NM_001355436.2(SPTB):c.4969G>T (p.Glu1657Ter)

SNV
Unknown

Chr14:64774401

Pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

CA390042903

rs_2503065505

1 SubmittersRCV002291053

NM_001355436.2(SPTB):c.4942C>T (p.Gln1648Ter)

SNV
Germline

Chr14:64774428

Pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

CA390043027

rs_2503065637

1 SubmittersRCV002291054

NM_001355436.2(SPTB):c.1591C>T (p.Gln531Ter)

SNV
Germline

Chr14:64795390

Pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

CA390022952

rs_2503173416

1 SubmittersRCV002291055

NM_001355436.2(SPTB):c.2521C>T (p.Gln841Ter)

SNV
Germline

Chr14:64793142

Pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

CA390016442

rs_2503157076

1 SubmittersRCV002291056

NM_001355436.2(SPTB):c.3855+1G>A

SNV
Germline

Chr14:64785536

Pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

CA390045560

rs_2503119018

1 SubmittersRCV002291057

NM_000037.4(ANK1):c.4204C>T (p.Gln1402Ter)

SNV
Germline

Chr8:41688210

Pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371057726

rs_2486737128

1 SubmittersRCV002291058

NM_001355436.2(SPTB):c.151G>T (p.Glu51Ter)

SNV
Germline

Chr14:64805088

Pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

CA390036260

rs_751809792

1 SubmittersRCV002291059

NM_001355436.2(SPTB):c.5788G>T (p.Glu1930Ter)

SNV
Unknown

Chr14:64770895

Pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

CA390040151

rs_2503047710

1 SubmittersRCV002291060

NM_000037.4(ANK1):c.3298G>A (p.Val1100Ile)

SNV
Germline

Chr8:41694621

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4727921

rs_147741842

4 SubmittersRCV002227345 RCV005350927 RCV005095787

NM_000342.4(SLC4A1):c.1331C>A (p.Thr444Asn)

SNV
Germline

Chr17:44257759

Conflicting classifications of pathogenicity

Renal tubular acidosis, distal, 4, with hemolytic anemia
Condition: not provided
Hereditary spherocytosis type 4

Criteria Provided
Conflicting Classifications

CA8600298

rs_754973425

4 SubmittersRCV002463585 RCV003138131 RCV003388626

NM_000037.4(ANK1):c.3325C>T (p.Gln1109Ter)

SNV
Germline

Chr8:41694594

Pathogenic/Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA371059728

rs_2150593157

2 SubmittersRCV002269806

NM_001355436.2(SPTB):c.474+1G>A

SNV
Germline

Chr14:64803606

Likely pathogenic

Hereditary spherocytosis type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA390034217

rs_2503219644

2 SubmittersRCV002283831 RCV003491068

NM_001355436.2(SPTB):c.3082C>T (p.Gln1028Ter)

SNV
Germline

Chr14:64786883

Likely pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

CA390047282

rs_2503130656

1 SubmittersRCV002283991

NM_001355436.2(SPTB):c.5114G>A (p.Trp1705Ter)

SNV
Germline

Chr14:64773284

Pathogenic

Hereditary spherocytosis type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA390041982

rs_2503060526

3 SubmittersRCV002287289 RCV004812440

NM_001355436.2(SPTB):c.5178+1G>A

SNV
Germline

Chr14:64773219

Likely pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

CA390041626

rs_2503060145

1 SubmittersRCV002290397

NM_000037.4(ANK1):c.814G>T (p.Glu272Ter)

SNV
Germline

Chr8:41723220

Pathogenic

Condition: not provided
Hereditary spherocytosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA371042186

rs_376057905

5 SubmittersRCV002598485 RCV003491129

NM_001355436.2(SPTB):c.3088G>T (p.Glu1030Ter)

SNV
Germline

Chr14:64786877

Pathogenic/Likely pathogenic

Condition: not provided
Elliptocytosis 3
Hereditary spherocytosis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA390047267

rs_757425728

2 SubmittersRCV002807152 RCV005008761

NM_001355436.2(SPTB):c.189G>A (p.Trp63Ter)

SNV
Germline

Chr14:64805050

Pathogenic

Condition: not provided
Hereditary spherocytosis type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA390036130

rs_2503227366

2 SubmittersRCV002816415 RCV003989787

NM_001114134.2(EPB42):c.2044G>A (p.Val682Ile)

SNV
Germline

Chr15:43197334

Conflicting classifications of pathogenicity

Condition: not provided
EPB42-related disorder
Hereditary spherocytosis type 5

Criteria Provided
Conflicting Classifications

CA7520137

rs_149419129

5 SubmittersRCV002903341 RCV003936347 RCV003146661

NM_000037.4(ANK1):c.3925C>T (p.Gln1309Ter)

SNV
Germline

Chr8:41690533

Pathogenic

Condition: not provided
Hereditary spherocytosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA371058353

rs_2486750606

2 SubmittersRCV003030796 RCV005254663

NM_000037.4(ANK1):c.1150G>A (p.Val384Ile)

SNV
Germline

Chr8:41718162

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4728718

rs_200898069

3 SubmittersRCV003140157 RCV002727473 RCV004585004

NM_001114134.2(EPB42):c.1280G>A (p.Arg427His)

SNV
Germline

Chr15:43207237

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spherocytosis type 5

Criteria Provided
Conflicting Classifications

CA7520372

rs_377673168

2 SubmittersRCV002968642 RCV003143559

NM_000037.4(ANK1):c.2296-2A>C

SNV
Germline

Chr8:41702146

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371065544

rs_2486823536

1 SubmittersRCV003120304

NM_000037.4(ANK1):c.1972C>T (p.Gln658Ter)

SNV
Germline

Chr8:41708804

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371067645

rs_767398317

1 SubmittersRCV003133904

NM_000037.4(ANK1):c.3073G>T (p.Gly1025Ter)

SNV
Germline

Chr8:41695219

Pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371061182

rs_1586167794

1 SubmittersRCV003134995

NM_000037.4(ANK1):c.5044C>T (p.Arg1682Ter)

SNV
Germline

Chr8:41672406

Pathogenic

ANK1-related disorder
Hereditary spherocytosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA371053510

rs_2487635534

5 SubmittersRCV003395707 RCV003132022

NM_000037.4(ANK1):c.3754C>T (p.Arg1252Ter)

SNV
Germline

Chr8:41692752

Pathogenic

Hereditary spherocytosis type 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA371058778

rs_1819628292

5 SubmittersRCV003135005 RCV003561183 RCV004636717

NM_000037.4(ANK1):c.5097-33G>A

SNV
Germline

Chr8:41668597

Pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA1779071413

rs_1811286829

1 SubmittersRCV003135006

NM_000037.4(ANK1):c.612+1G>C

SNV
Germline

Chr8:41725760

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371044276

rs_2486986598

1 SubmittersRCV003135640

NM_000037.4(ANK1):c.5096+2T>G

SNV
Germline

Chr8:41672352

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371053289

rs_2487634896

1 SubmittersRCV003133690

NM_000037.4(ANK1):c.1900C>T (p.Gln634Ter)

SNV
Germline

Chr8:41708876

Pathogenic/Likely pathogenic

Hereditary spherocytosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA371067867

rs_2486869276

2 SubmittersRCV003147255 RCV003575043

NM_000037.4(ANK1):c.3859-2A>G

SNV
Germline

Chr8:41690601

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371058496

rs_2486751066

1 SubmittersRCV003143997

NM_000037.4(ANK1):c.4771G>T (p.Glu1591Ter)

SNV
Germline

Chr8:41672679

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371054329

rs_2487638391

1 SubmittersRCV003144028

NM_000037.4(ANK1):c.3550C>T (p.Gln1184Ter)

SNV
Germline

Chr8:41693184

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371059238

rs_2486763479

1 SubmittersRCV003143448

NM_000037.4(ANK1):c.3763C>T (p.Arg1255Cys)

SNV
Germline

Chr8:41692743

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4727784

rs_148275567

3 SubmittersRCV003141410 RCV004809971

NM_000037.4(ANK1):c.2296-2A>G

SNV
Germline

Chr8:41702146

Pathogenic/Likely pathogenic

Hereditary spherocytosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA371065542

rs_2486823536

4 SubmittersRCV003130948 RCV004790482

NM_000037.4(ANK1):c.1585C>T (p.Gln529Ter)

SNV
Germline

Chr8:41715669

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371069967

rs_2486913654

1 SubmittersRCV003135414

NM_000037.4(ANK1):c.3533-2A>G

SNV
Germline

Chr8:41693203

Pathogenic/Likely pathogenic

Hereditary spherocytosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA371059278

rs_2486763550

3 SubmittersRCV003135524 RCV005099295

NM_000037.4(ANK1):c.3777C>G (p.Tyr1259Ter)

SNV
Germline

Chr8:41692729

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371058733

rs_1376266690

1 SubmittersRCV003133983

NM_000037.4(ANK1):c.4184-2A>G

SNV
Germline

Chr8:41688232

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371057775

rs_2486737272

1 SubmittersRCV003134014

NM_000037.4(ANK1):c.3630-1G>A

SNV
Germline

Chr8:41692877

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371059052

rs_2486761002

1 SubmittersRCV003134029

NM_000037.4(ANK1):c.4259-1G>T

SNV
Germline

Chr8:41686284

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA371057591

rs_2486729264

2 SubmittersRCV003134090 RCV003481451

NM_001355436.2(SPTB):c.1465G>T (p.Glu489Ter)

SNV
Germline

Chr14:64795516

Likely pathogenic

Hereditary spherocytosis type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA390023838

rs_762902447

2 SubmittersRCV003152886 RCV004790493

NM_000037.4(ANK1):c.2632G>T (p.Glu878Ter)

SNV
Unknown

Chr8:41698048

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371063240

rs_1821604564

1 SubmittersRCV003234618

NM_000037.4(ANK1):c.1638C>A (p.Tyr546Ter)

SNV
Germline

Chr8:41715039

Likely pathogenic

Hereditary spherocytosis

Criteria Provided
Single Submitter

CA371069677

rs_771419825

1 SubmittersRCV003234637

NM_000175.5(GPI):c.283-2A>G

SNV
Germline

Chr19:34368581

Likely pathogenic

Hereditary spherocytosis

Criteria Provided
Single Submitter

CA405248684

rs_2513787109

1 SubmittersRCV003234639

NM_001355436.2(SPTB):c.5953C>T (p.Gln1985Ter)

SNV
Germline

Chr14:64769103

Likely pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

CA390039767

rs_2503038679

1 SubmittersRCV003314501

NM_000037.4(ANK1):c.5096+1G>A

SNV
Unknown

Chr8:41672353

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371053295

rs_2487634907

1 SubmittersRCV003330267

NM_001355436.2(SPTB):c.647+1G>A

SNV
Germline

Chr14:64801753

Likely pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

CA390031876

rs_2503210409

1 SubmittersRCV003340828

NM_001355436.2(SPTB):c.2137C>T (p.Gln713Ter)

SNV
Germline

Chr14:64793526

Likely pathogenic

Hereditary spherocytosis type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA390018943

rs_2503160354

2 SubmittersRCV003337902 RCV003491366

NM_001355436.2(SPTB):c.4843-1G>C

SNV
Germline

Chr14:64774528

Likely pathogenic

Hereditary spherocytosis type 2

No Assertion Criteria Provided

CA390043369

rs_2503066387

1 SubmittersRCV003388267

NM_001355436.2(SPTB):c.1921A>T (p.Lys641Ter)

SNV
Germline

Chr14:64793742

Likely pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

CA390020507

rs_2503162325

1 SubmittersRCV003388808

NM_000037.4(ANK1):c.3050G>C (p.Trp1017Ser)

SNV
Germline

Chr8:41695242

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371061327

rs_2486776816

1 SubmittersRCV003448530

NM_000037.4(ANK1):c.3050G>A (p.Trp1017Ter)

SNV
Germline

Chr8:41695242

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371061331

rs_2486776816

1 SubmittersRCV003489295

NM_000037.4(ANK1):c.613-1G>A

SNV
Germline

Chr8:41724555

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371043615

rs_2486976789

1 SubmittersRCV003489297

NM_000037.4(ANK1):c.5500C>T (p.Gln1834Ter)

SNV
Germline

Chr8:41661920

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371047223

rs_1218976308

1 SubmittersRCV003489298

NM_000037.4(ANK1):c.2296-1G>A

SNV
Germline

Chr8:41702145

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371065535

rs_2486823524

1 SubmittersRCV003489301

NM_000037.4(ANK1):c.341C>T (p.Pro114Leu)

SNV
Germline

Chr8:41727335

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371045425

rs_2486997588

1 SubmittersRCV003489305

NM_000037.4(ANK1):c.1930C>T (p.Gln644Ter)

SNV
Germline

Chr8:41708846

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371067735

rs_2486869082

1 SubmittersRCV003489306

NM_000037.4(ANK1):c.2389-2A>G

SNV
Germline

Chr8:41701624

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371065122

rs_761708703

1 SubmittersRCV003489308

NM_000037.4(ANK1):c.4391-1G>C

SNV
Germline

Chr8:41684691

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371057279

rs_2486722467

1 SubmittersRCV003489309

NM_000037.4(ANK1):c.1933G>T (p.Glu645Ter)

SNV
Germline

Chr8:41708843

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371067725

rs_2150621717

1 SubmittersRCV003489322

NM_000037.4(ANK1):c.1537G>T (p.Glu513Ter)

SNV
Germline

Chr8:41715717

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371070118

rs_2486914036

1 SubmittersRCV003489323

NM_000037.4(ANK1):c.810+1G>A

SNV
Germline

Chr8:41723534

Likely pathogenic

Hereditary spherocytosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA175915637

rs_867073059

2 SubmittersRCV003489324 RCV005100325

NM_000037.4(ANK1):c.910-2A>G

SNV
Germline

Chr8:41719860

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371041462

rs_2486944833

1 SubmittersRCV003489326

NM_000037.4(ANK1):c.1657G>T (p.Glu553Ter)

SNV
Germline

Chr8:41715020

Pathogenic

Hereditary spherocytosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA371069641

rs_1827231890

2 SubmittersRCV003741359 RCV003563127

NM_000037.4(ANK1):c.3984+1G>T

SNV
Germline

Chr8:41690473

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spherocytosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA371058221

rs_2486750141

2 SubmittersRCV003569146 RCV003741360

NM_000037.4(ANK1):c.1207-6T>C

SNV
Germline

Chr8:41717708

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4728681

rs_541269643

2 SubmittersRCV003741135 RCV005063157

NM_000037.4(ANK1):c.325C>T (p.Gln109Ter)

SNV
Germline

Chr8:41727910

Pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371046508

rs_2487001941

1 SubmittersRCV003741136

NM_000037.4(ANK1):c.5530C>T (p.Gln1844Ter)

SNV
Germline

Chr8:41661890

Pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371046885

rs_2487538167

1 SubmittersRCV003741146

NM_000037.4(ANK1):c.427-2A>G

SNV
Germline

Chr8:41725948

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371044846

rs_2486988534

1 SubmittersRCV003741617

NM_001355436.2(SPTB):c.545G>A (p.Trp182Ter)

SNV
Germline

Chr14:64802247

Likely pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

CA390032529

rs_2503213570

1 SubmittersRCV003986007

NM_000037.4(ANK1):c.895C>T (p.Gln299Ter)

SNV
Germline

Chr8:41723139

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

CA371041830

rs_2486962860

1 SubmittersRCV003991843

NM_001355436.2(SPTB):c.3829C>T (p.Gln1277Ter)

SNV
Unknown

Chr14:64785563

Likely pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

rs_2503119393

1 SubmittersRCV004577053

NM_000037.4(ANK1):c.1624G>A (p.Val542Met)

SNV
Germline

Chr8:41715053

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004698726 RCV004987187

NM_000037.4(ANK1):c.3112G>T (p.Glu1038Ter)

SNV
Germline

Chr8:41695180

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004723684

NM_001355436.2(SPTB):c.4473+1G>A

SNV
Germline

Chr14:64779724

Likely pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV004764423

NM_000037.4(ANK1):c.3072T>A (p.Tyr1024Ter)

SNV
Unknown

Chr8:41695220

Likely pathogenic

Hereditary spherocytosis

Criteria Provided
Single Submitter

1 SubmittersRCV004765097

NM_000037.4(ANK1):c.3553T>A (p.Trp1185Arg)

SNV
Germline

Chr8:41693181

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004771573

NM_001355436.2(SPTB):c.2617G>T (p.Glu873Ter)

SNV
Germline

Chr14:64793046

Likely pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV004797083

NM_000037.4(ANK1):c.2230C>T (p.Gln744Ter)

SNV
Germline

Chr8:41704106

Pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004797342

NM_003126.4(SPTA1):c.2167C>T (p.Gln723Ter)

SNV
Germline

Chr1:158666369

Likely pathogenic

Hereditary spherocytosis type 3
Elliptocytosis 2
Pyropoikilocytosis, hereditary

Criteria Provided
Single Submitter

1 SubmittersRCV004797363

NM_001355436.2(SPTB):c.3352C>T (p.Gln1118Ter)

SNV
Germline

Chr14:64786613

Likely pathogenic

Hereditary spherocytosis type 2
Elliptocytosis 3

Criteria Provided
Single Submitter

1 SubmittersRCV004796442

NM_000037.4(ANK1):c.4253G>A (p.Trp1418Ter)

SNV
Germline

Chr8:41688161

Pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004796462

NM_001355436.2(SPTB):c.3055C>T (p.Gln1019Ter)

SNV
Germline

Chr14:64786910

Pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV004796503

NM_000037.4(ANK1):c.2637G>T (p.Gln879His)

SNV
Germline

Chr8:41698043

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004813521

NM_000037.4(ANK1):c.274G>T (p.Glu92Ter)

SNV
Germline

Chr8:41727961

Pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004819941

NM_001114134.2(EPB42):c.775C>T (p.Arg259Ter)

SNV
Germline

Chr15:43209331

Likely pathogenic

Hereditary spherocytosis type 5

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005009592

NM_000037.4(ANK1):c.1273C>T (p.Gln425Ter)

SNV
Germline

Chr8:41717636

Pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005041217

NM_000037.4(ANK1):c.5162G>A (p.Trp1721Ter)

SNV
Germline

Chr8:41668499

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005054517

NM_000037.4(ANK1):c.811-2A>G

SNV
Germline

Chr8:41723225

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005234277

NM_000037.4(ANK1):c.3116-2A>G

SNV
Germline

Chr8:41694805

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005234598

NM_000037.4(ANK1):c.427-1G>A

SNV
Germline

Chr8:41725947

Pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005252317

NM_001355436.2(SPTB):c.376C>T (p.Gln126Ter)

SNV
Germline

Chr14:64803705

Likely pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005253381

NM_003126.4(SPTA1):c.1112+2T>C

SNV
Germline

Chr1:158676139

Likely pathogenic

Hereditary spherocytosis type 3

Criteria Provided
Single Submitter

1 SubmittersRCV005254236

NM_000037.4(ANK1):c.1800G>A (p.Trp600Ter)

SNV
Germline

Chr8:41714156

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005407480

NM_000037.4(ANK1):c.5359C>T (p.Gln1787Ter)

SNV
Germline

Chr8:41668302

Likely pathogenic

Hereditary spherocytosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005407481

NM_001355436.2(SPTB):c.5312G>A (p.Trp1771Ter)

SNV
Germline

Chr14:64772821

Likely pathogenic

Hereditary spherocytosis type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005415358