Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000489.6(ATRX):c.4826A>G (p.His1609Arg)	SNV Germline	ChrX:77633696	Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Single Submitter	CA256016	rs_122445093	2 SubmittersRCV000012487 RCV002285255
NM_000489.6(ATRX):c.4840T>C (p.Cys1614Arg)	SNV Germline	ChrX:77633682	Pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	No Assertion Criteria Provided	CA256019	rs_122445094	1 SubmittersRCV000012488
NM_000489.6(ATRX):c.4950G>T (p.Lys1650Asn)	SNV Germline	ChrX:77633572	Pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	No Assertion Criteria Provided	CA256022	rs_122445095	1 SubmittersRCV000012489
NM_000489.6(ATRX):c.6104A>T (p.Asp2035Val)	SNV Germline	ChrX:77593702	Pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	No Assertion Criteria Provided	CA256025	rs_122445096	1 SubmittersRCV000012491
NM_000489.6(ATRX):c.6250T>C (p.Tyr2084His)	SNV Germline	ChrX:77574326	Pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	No Assertion Criteria Provided	CA256028	rs_122445097	1 SubmittersRCV000012492
NM_000489.6(ATRX):c.6488A>G (p.Tyr2163Cys)	SNV Germline	ChrX:77558685	Pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	No Assertion Criteria Provided	CA256031	rs_122445098	1 SubmittersRCV000012493
NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter)	SNV Germline	ChrX:77520832	Pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome Ambiguous genitalia Intellectual disability, severe Cryptorchidism Microcephaly Bone osteosarcoma Condition: not provided Intellectual disability-hypotonic facies syndrome, X-linked, 1 See cases ATRX-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA256034	rs_122445099	7 SubmittersRCV000012494 RCV000735339 RCV000723525 RCV002283442 RCV003156057 RCV004532323
NM_000489.6(ATRX):c.7162G>T (p.Glu2388Ter)	SNV Germline	ChrX:77520826	Pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	No Assertion Criteria Provided	CA256039	rs_122445100	1 SubmittersRCV000012495
NM_000489.6(ATRX):c.5273-10T>A	SNV Germline	ChrX:77618991	Pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	No Assertion Criteria Provided		rs_2148261114	1 SubmittersRCV000012496
NM_000489.6(ATRX):c.6392G>A (p.Arg2131Gln)	SNV Germline	ChrX:77558781	Pathogenic	Intellectual disability-hypotonic facies syndrome, X-linked Intellectual disability-hypotonic facies syndrome, X-linked, 1 Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided ATRX-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA121644	rs_122445101	4 SubmittersRCV000012497 RCV000199096 RCV002272014 RCV004528102
NM_000489.6(ATRX):c.751A>G (p.Lys251Glu)	SNV Germline	ChrX:77684505	Pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	No Assertion Criteria Provided		rs_1569539477	1 SubmittersRCV000012499
NM_000489.6(ATRX):c.568C>G (p.Pro190Ala)	SNV Germline	ChrX:77688844	Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome Alpha thalassemia-X-linked intellectual disability syndrome Intellectual disability-hypotonic facies syndrome, X-linked, 1	Criteria Provided Single Submitter	CA256044	rs_122445103	2 SubmittersRCV000012500 RCV000197579
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys)	SNV Germline	ChrX:77684520	Pathogenic/Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided Inborn genetic diseases Renier-Gabreels-Jasper syndrome Intellectual disability-hypotonic facies syndrome, X-linked, 1 Acquired hemoglobin H disease Alpha thalassemia-X-linked intellectual disability syndrome Intellectual disability-hypotonic facies syndrome, X-linked, 1	Criteria Provided Multiple Submitters No Conflicts	CA204872	rs_122445105	18 SubmittersRCV000012501 RCV000078972 RCV000190796 RCV001249275 RCV000763634 RCV001252427
NM_000489.6(ATRX):c.5225G>A (p.Arg1742Lys)	SNV Germline	ChrX:77620442	Pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	No Assertion Criteria Provided	CA256047	rs_122445104	1 SubmittersRCV000012502
NM_000489.6(ATRX):c.4862C>T (p.Thr1621Met)	SNV Germline	ChrX:77633660	Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome Intellectual disability-hypotonic facies syndrome, X-linked, 1	Criteria Provided Single Submitter	CA256049	rs_122445106	2 SubmittersRCV000012505 RCV003128081
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)	SNV Germline	ChrX:77717155	Pathogenic/Likely pathogenic	Intellectual disability-hypotonic facies syndrome, X-linked Alpha thalassemia-X-linked intellectual disability syndrome Intellectual disability Intellectual disability-hypotonic facies syndrome, X-linked, 1 Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA121653	rs_122445108	12 SubmittersRCV000012508 RCV000148028 RCV000224314 RCV000680146 RCV002444427 RCV003151722
NM_000489.6(ATRX):c.659G>A (p.Cys220Tyr)	SNV Germline	ChrX:77684942	Pathogenic/Likely pathogenic	Intellectual disability-hypotonic facies syndrome, X-linked Inborn genetic diseases Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Multiple Submitters No Conflicts	CA121660	rs_122445111	3 SubmittersRCV000012511 RCV000624600 RCV001582475
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)	SNV Germline	Chr11:5226774	Pathogenic	Beta zero thalassemia Condition: not provided beta Thalassemia Hb SS disease alpha Thalassemia Heinz body anemia Beta-thalassemia HBB/LCRB Inborn genetic diseases 9 conditions HBB-related disorder Malaria, susceptibility to	Criteria Provided Multiple Submitters No Conflicts	CA125259	rs_11549407	36 SubmittersRCV000016656 RCV000254827 RCV000379715 RCV001004570 RCV001197268 RCV002221479 RCV002288499 RCV002336086 RCV002476976 RCV004532366 RCV003987324
NM_000517.4(HBA2):c.427T>A (p.Ter143Lys)	SNV Germline	Chr16:173598	Conflicting classifications of pathogenicity	HEMOGLOBIN ICARIA Hemoglobin H disease, nondeletional Condition: not provided alpha Thalassemia beta Thalassemia	Criteria Provided Conflicting Classifications	CA125550	rs_41464951	5 SubmittersRCV000016893 RCV000022603 RCV000985726 RCV002250461 RCV004017255
NM_000517.6(HBA2):c.428A>C (p.Ter143Ser)	SNV Germline	Chr16:173599	Pathogenic/Likely pathogenic	HEMOGLOBIN KOYA DORA Condition: not provided alpha Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA125552	rs_41321345	4 SubmittersRCV000016894 RCV000759055 RCV004546413
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro)	SNV Germline	Chr16:173548	Pathogenic	Hemoglobin Quong Sze alpha Thalassemia Condition: not provided Hemoglobin H disease alpha Thalassemia Heinz body anemia Erythrocytosis, familial, 7	Criteria Provided Multiple Submitters No Conflicts	CA125557	rs_41397847	6 SubmittersRCV000016897 RCV000417220 RCV001811168 RCV002476982
NM_000517.6(HBA2):c.329T>G (p.Leu110Arg)	SNV Germline	Chr16:173500	Pathogenic; other	HEMOGLOBIN SUAN-DOK alpha Thalassemia	No Assertion Criteria Provided	CA125561	rs_41479844	2 SubmittersRCV000016899 RCV001078246
NM_000517.4(HBA2):c.142G>C (p.Asp48His)	SNV Germline	Chr16:173171	Conflicting classifications of pathogenicity	HEMOGLOBIN L (FERRARA) HEMOGLOBIN SINAI HEMOGLOBIN HASHARON HEMOGLOBIN SEALY Condition: not provided alpha Thalassemia	Criteria Provided Conflicting Classifications	CA125569	rs_281864834	5 SubmittersRCV000016910 RCV000016912 RCV000016911 RCV000016913 RCV001544589 RCV001275680
NM_000517.6(HBA2):c.2T>C (p.Met1Thr)	SNV Germline	Chr16:172914	Pathogenic	alpha Thalassemia Condition: not provided	Criteria Provided Single Submitter	CA281645	rs_111033603	4 SubmittersRCV000016929 RCV003654177
NM_000517.6(HBA2):c.349G>T (p.Glu117Ter)	SNV Germline	Chr16:173520	Pathogenic	alpha Thalassemia	No Assertion Criteria Provided	CA281647	rs_33987053	1 SubmittersRCV000016930
NM_000517.6(HBA2):c.1A>G (p.Met1Val)	SNV Germline	Chr16:172913	Pathogenic	Hemoglobin H disease, nondeletional alpha Thalassemia Condition: not provided	Criteria Provided Single Submitter	CA125582	rs_121909803	3 SubmittersRCV000016931 RCV001078242 RCV001284141
NM_000517.6(HBA2):c.*92A>G	SNV Germline	Chr16:173692	Pathogenic/Likely pathogenic	Alpha-thalassemia-2, nondeletional Hemoglobin H disease, nondeletional Condition: not provided alpha Thalassemia Hemoglobin H disease alpha Thalassemia Heinz body anemia Erythrocytosis, familial, 7 Hemoglobin H disease beta Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA125586	rs_63750067	8 SubmittersRCV000016933 RCV000022604 RCV000507591 RCV001831575 RCV002476983 RCV003989291 RCV004017256
NM_000517.4(HBA2):c.429A>T (p.Ter143Tyr)	SNV Germline	Chr16:173600	Pathogenic	Hemoglobin H disease, nondeletional Condition: not provided alpha Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA125595	rs_41412046	5 SubmittersRCV000016938 RCV000508511 RCV001831576
NM_000517.4(HBA2):c.427T>G (p.Ter143Glu)	SNV Germline	Chr16:173598	Pathogenic/Likely pathogenic	HEMOGLOBIN SEAL ROCK Condition: not provided alpha Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA125597	rs_41464951	5 SubmittersRCV000016939 RCV000759054 RCV001275682
NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr)	SNV Germline	Chr16:173485	Pathogenic/Likely pathogenic	HEMOGLOBIN SALLANCHES Hemoglobin H disease, nondeletional Condition: not provided alpha Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA125601	rs_41417548	4 SubmittersRCV000016942 RCV000022606 RCV001811170 RCV002051787
NM_000517.6(HBA2):c.301-1G>A	SNV Germline	Chr16:173471	Likely pathogenic	HEMOGLOBIN CLINICO-MADRID Hemoglobin H disease, nondeletional alpha Thalassemia Heinz body anemia alpha Thalassemia Hemoglobin H disease Erythrocytosis, familial, 7	Criteria Provided Single Submitter	CA125624	rs_587776827	3 SubmittersRCV000016954 RCV000022607 RCV001078244 RCV002496386
NM_000517.6(HBA2):c.96-2A>G	SNV Germline	Chr16:173123	Pathogenic	Alpha-thalassemia, Dutch type Condition: not provided Hemoglobin H disease alpha Thalassemia Heinz body anemia Erythrocytosis, familial, 7	Criteria Provided Multiple Submitters No Conflicts	CA125641	rs_41457746	5 SubmittersRCV000016968 RCV001572897 RCV002482879
NM_000517.6(HBA2):c.70G>T (p.Glu24Ter)	SNV Germline	Chr16:172982	Likely pathogenic	alpha Thalassemia Condition: not provided	Criteria Provided Single Submitter	CA281649	rs_281864819	3 SubmittersRCV000016976 RCV000985729
NM_000517.6(HBA2):c.69C>T (p.Gly23=)	SNV Germline	Chr16:172981	Likely pathogenic	Alpha-thalassemia, Dutch type not specified alpha Thalassemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA125652	rs_63751457	4 SubmittersRCV000016977 RCV001002048 RCV001275678 RCV000759057
NM_000517.6(HBA2):c.178G>C (p.Gly60Arg)	SNV Germline	Chr16:173207	Likely pathogenic	HEMOGLOBIN ZURICH ALBISRIEDEN Alpha-thalassemia, Dutch type alpha Thalassemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA125654	rs_41328049	3 SubmittersRCV000016978 RCV000016979 RCV002051788 RCV003736541
NM_000517.6(HBA2):c.377T>G (p.Leu126Arg)	SNV Germline	Chr16:173548	Pathogenic	HEMOGLOBIN PLASENCIA Condition: not provided alpha Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA125658	rs_41397847	4 SubmittersRCV000016981 RCV000985724 RCV001826473
NM_000558.5(HBA1):c.223G>C (p.Asp75His)	SNV Germline	Chr16:177056	Conflicting classifications of pathogenicity	HEMOGLOBIN G (TAICHUNG) HEMOGLOBIN Q (THAILAND) HEMOGLOBIN Q HEMOGLOBIN MAHIDOL HEMOGLOBIN ASABARA HEMOGLOBIN KURASHIKI alpha Thalassemia Condition: not provided	Criteria Provided Conflicting Classifications	CA125737	rs_28928875	4 SubmittersRCV000017028 RCV000017030 RCV000017029 RCV000017031 RCV000017032 RCV000017033 RCV000417219 RCV000505861
NM_000558.5(HBA1):c.332C>A (p.Ala111Asp)	SNV Germline	Chr16:177314	Likely pathogenic	HEMOGLOBIN PETAH TIKVA Condition: not provided Hemoglobin H disease alpha Thalassemia Heinz body anemia Erythrocytosis, familial, 7 Methemoglobinemia, alpha type	Criteria Provided Multiple Submitters No Conflicts	CA125861	rs_63749948	3 SubmittersRCV000017140 RCV001811179 RCV002482880
NM_000558.3(HBA1):c.179G>A (p.Gly60Asp)	SNV Germline	Chr16:177012	Pathogenic	Hemoglobin H disease, nondeletional HEMOGLOBIN ADANA Condition: not provided alpha Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA125949	rs_28928878	4 SubmittersRCV000022600 RCV000017194 RCV000756221 RCV001831580
NM_000558.3(HBA1):c.389T>C (p.Leu130Pro)	SNV Germline	Chr16:177371	Likely pathogenic	HEMOGLOBIN TUNIS-BIZERTE Condition: not provided alpha Thalassemia	Criteria Provided Single Submitter	CA125979	rs_35993655	3 SubmittersRCV000017211 RCV000756223 RCV001276182
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser)	SNV Germline	ChrX:77688876	Pathogenic/Likely pathogenic	Condition: not provided Intellectual disability-hypotonic facies syndrome, X-linked, 1 Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Multiple Submitters No Conflicts	CA220995	rs_398123425	6 SubmittersRCV000078965 RCV000850379 RCV001262503
NM_000489.6(ATRX):c.5787-20G>T	SNV Germline	ChrX:77599600	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome See cases	Criteria Provided Conflicting Classifications	CA220999	rs_185359850	4 SubmittersRCV000078968 RCV002055104 RCV002251965
NM_000489.6(ATRX):c.5968T>A (p.Ser1990Thr)	SNV Germline	ChrX:77593838	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA221002	rs_142180002	5 SubmittersRCV000710719 RCV001086632 RCV002514389
NM_000489.6(ATRX):c.1438A>G (p.Thr480Ala)	SNV Germline	ChrX:77683818	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA230919	rs_587780284	4 SubmittersRCV000116460 RCV001274220
NM_000489.6(ATRX):c.3395T>C (p.Ile1132Thr)	SNV Germline	ChrX:77681861	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome ATRX-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA230921	rs_587780285	6 SubmittersRCV000116461 RCV001083597 RCV004542838 RCV002316296
NM_000489.6(ATRX):c.2806G>C (p.Val936Leu)	SNV Germline	ChrX:77682450	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA230923	rs_149232501	3 SubmittersRCV000116466 RCV001088031
NM_000489.6(ATRX):c.189G>A (p.Glu63=)	SNV Germline	ChrX:77698574	Conflicting classifications of pathogenicity	not specified Alpha thalassemia-X-linked intellectual disability syndrome ATRX-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA157213	rs_587778082	5 SubmittersRCV000120172 RCV000640834 RCV004529996 RCV002408624
NM_000489.6(ATRX):c.2513A>G (p.Lys838Arg)	SNV Germline	ChrX:77682743	Conflicting classifications of pathogenicity	not specified Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA157220	rs_587778085	3 SubmittersRCV000120176 RCV002515820 RCV003436932
NM_000489.6(ATRX):c.2761G>T (p.Val921Phe)	SNV Germline	ChrX:77682495	Conflicting classifications of pathogenicity	not specified Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA157238	rs_587778088	3 SubmittersRCV000120186 RCV002514622 RCV003436933
NM_000489.6(ATRX):c.3281G>A (p.Cys1094Tyr)	SNV Germline	ChrX:77681975	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA233502	rs_146521598	4 SubmittersRCV000152816 RCV001079208 RCV002516068
NM_000489.6(ATRX):c.6753C>T (p.Tyr2251=)	SNV Germline	ChrX:77523348	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA233498	rs_797044495	2 SubmittersRCV000152814 RCV003624404
NM_000489.6(ATRX):c.4120+4A>C	SNV Germline	ChrX:77663378	Conflicting classifications of pathogenicity	not specified Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA208162	rs_200420513	8 SubmittersRCV000194168 RCV001084811 RCV002321688 RCV000724115
NM_000489.6(ATRX):c.1868A>G (p.Lys623Arg)	SNV Germline	ChrX:77683388	Conflicting classifications of pathogenicity	not specified Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA247990	rs_145678415	4 SubmittersRCV000180508 RCV000723983 RCV001085725
NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln)	SNV Germline	ChrX:77682474	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Alpha thalassemia-X-linked intellectual disability syndrome Acquired hemoglobin H disease Intellectual disability-hypotonic facies syndrome, X-linked, 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA247992	rs_797044792	6 SubmittersRCV001241409 RCV002485181 RCV000180509 RCV002433783
NM_000489.6(ATRX):c.1273A>C (p.Lys425Gln)	SNV Germline	ChrX:77683983	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome ATRX-related disorder	Criteria Provided Conflicting Classifications	CA247996	rs_782508808	3 SubmittersRCV000180511 RCV002517764 RCV004537510
NM_000489.6(ATRX):c.3091G>A (p.Gly1031Ser)	SNV Germline	ChrX:77682165	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA247998	rs_782781078	5 SubmittersRCV000180512 RCV002517765 RCV000640830
NM_000489.6(ATRX):c.3065G>A (p.Arg1022Gln)	SNV Germline	ChrX:77682191	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA248000	rs_781811015	4 SubmittersRCV000180513 RCV001510596 RCV002444721
NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val)	SNV Germline	ChrX:77522367	Conflicting classifications of pathogenicity	not specified Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA206445	rs_374244026	6 SubmittersRCV000193153 RCV000862246 RCV001701703
NM_000489.6(ATRX):c.2522T>C (p.Ile841Thr)	SNV Germline	ChrX:77682734	Conflicting classifications of pathogenicity	not specified Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA209637	rs_797045405	2 SubmittersRCV000195062 RCV001852549
NM_000489.6(ATRX):c.1386T>C (p.Ala462=)	SNV Germline	ChrX:77683870	Conflicting classifications of pathogenicity	not specified Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA206220	rs_367596462	2 SubmittersRCV000193007 RCV002054255
NM_000489.6(ATRX):c.7435A>G (p.Met2479Val)	SNV Germline	ChrX:77508395	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA10457376	rs_200478641	3 SubmittersRCV000353527 RCV001087963
NM_000489.6(ATRX):c.3555G>C (p.Lys1185Asn)	SNV Germline	ChrX:77681701	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10457937	rs_782696086	4 SubmittersRCV000344092 RCV001276394 RCV002311400
NM_000489.6(ATRX):c.1446A>G (p.Glu482=)	SNV Germline	ChrX:77683810	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome not specified	Criteria Provided Conflicting Classifications	CA10603931	rs_886044778	3 SubmittersRCV000367387 RCV001396741 RCV003151005
NM_000489.6(ATRX):c.831C>T (p.Val277=)	SNV Germline	ChrX:77684425	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA10458258	rs_142561199	4 SubmittersRCV000297998 RCV001084793
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly)	SNV Germline	ChrX:77656644	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome Alpha thalassemia-X-linked intellectual disability syndrome Intellectual disability-hypotonic facies syndrome, X-linked, 1 Inborn genetic diseases Acquired hemoglobin H disease Alpha thalassemia-X-linked intellectual disability syndrome Intellectual disability-hypotonic facies syndrome, X-linked, 1	Criteria Provided Conflicting Classifications	CA10457842	rs_782553301	8 SubmittersRCV000271653 RCV001510472 RCV002055056 RCV002317813 RCV003224252
NM_000489.6(ATRX):c.4224G>A (p.Lys1408=)	SNV Germline	ChrX:77654191	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA10457820	rs_781984385	4 SubmittersRCV001083048 RCV002328774 RCV000277044
NM_000489.6(ATRX):c.926A>G (p.Tyr309Cys)	SNV Germline	ChrX:77684330	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA10458252	rs_782058125	2 SubmittersRCV000399565 RCV002059205
NM_000489.6(ATRX):c.2629G>A (p.Asp877Asn)	SNV Germline	ChrX:77682627	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA10606603	rs_886044896	2 SubmittersRCV000259592 RCV001262505
NM_000489.6(ATRX):c.6532C>T (p.Arg2178Trp)	SNV Germline	ChrX:77557618	Pathogenic/Likely pathogenic	Condition: not provided Intellectual disability-hypotonic facies syndrome, X-linked, 1 Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16043291	rs_1057517707	3 SubmittersRCV000414248 RCV001775115 RCV003512036
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His)	SNV Germline	ChrX:77574322	Pathogenic/Likely pathogenic	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome Intellectual disability-hypotonic facies syndrome, X-linked, 1	Criteria Provided Multiple Submitters No Conflicts	CA16043310	rs_1057517948	6 SubmittersRCV000413472 RCV001197192 RCV002288984
NM_000489.6(ATRX):c.569C>T (p.Pro190Leu)	SNV Germline	ChrX:77688843	Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	No Assertion Criteria Provided	CA16043718	rs_1057518708	1 SubmittersRCV000415467
NM_000517.6(HBA2):c.*94A>G	SNV Germline	Chr16:173694	Conflicting classifications of pathogenicity	alpha Thalassemia Condition: not provided alpha Thalassemia Hemoglobin H disease Heinz body anemia Erythrocytosis, familial, 7 Hemoglobin H disease beta Thalassemia	Criteria Provided Conflicting Classifications	CA16602272	rs_63751269	9 SubmittersRCV000417217 RCV001800666 RCV002502453 RCV003989109 RCV004017607
NM_000489.6(ATRX):c.4905G>T (p.Met1635Ile)	SNV Germline	ChrX:77633617	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA16608591	rs_1045875195	3 SubmittersRCV000440472 RCV001511780 RCV002522405
NM_000489.6(ATRX):c.1478A>G (p.His493Arg)	SNV Germline	ChrX:77683778	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA16608595	rs_947189709	3 SubmittersRCV000418029 RCV001861623
NM_000489.6(ATRX):c.2617G>C (p.Glu873Gln)	SNV Germline	ChrX:77682639	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA16608942	rs_967071645	2 SubmittersRCV000440229 RCV002522442
NM_000489.6(ATRX):c.847G>A (p.Val283Ile)	SNV Germline	ChrX:77684409	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA16608945	rs_1057522580	3 SubmittersRCV000419763 RCV001828419
NM_000489.6(ATRX):c.729C>G (p.Cys243Trp)	SNV Germline	ChrX:77684527	Likely pathogenic	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16608993	rs_1057524153	2 SubmittersRCV000419781 RCV000990876
NM_000489.6(ATRX):c.631C>T (p.Arg211Cys)	SNV Germline	ChrX:77684970	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA10458285	rs_782241890	3 SubmittersRCV000433610 RCV001833548
NM_000489.6(ATRX):c.2875G>T (p.Asp959Tyr)	SNV Germline	ChrX:77682381	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA16609214	rs_1057523431	4 SubmittersRCV000417534 RCV000809360 RCV002522517 RCV003151056
NM_000489.6(ATRX):c.1033G>A (p.Ala345Thr)	SNV Germline	ChrX:77684223	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10458243	rs_149249195	6 SubmittersRCV000726862 RCV001084389 RCV002392969
NM_000489.6(ATRX):c.6122G>A (p.Ser2041Asn)	SNV Germline	ChrX:77589929	Pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter	CA16609409	rs_1060499658	1 SubmittersRCV000449558
NM_000489.6(ATRX):c.1676C>T (p.Ser559Leu)	SNV Germline	ChrX:77683580	Conflicting classifications of pathogenicity	Global developmental delay Microcephaly Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA16609549	rs_1060499760	3 SubmittersRCV000454225 RCV001706638
NM_000489.6(ATRX):c.2150C>T (p.Pro717Leu)	SNV Germline	ChrX:77683106	Conflicting classifications of pathogenicity	Intellectual disability-hypotonic facies syndrome, X-linked, 1 Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10458118	rs_372617572	4 SubmittersRCV000455887 RCV001211748 RCV001775797
NM_000489.6(ATRX):c.3224A>G (p.Asp1075Gly)	SNV Germline	ChrX:77682032	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA16621506	rs_1064796745	4 SubmittersRCV000484537 RCV001834575 RCV002526967
NM_000489.6(ATRX):c.278A>T (p.Asp93Val)	SNV Germline	ChrX:77696669	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA16621509	rs_1064796774	3 SubmittersRCV000479685 RCV001247873
NM_000489.6(ATRX):c.4865C>T (p.Ala1622Val)	SNV Germline	ChrX:77633657	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA413704566	rs_1135401793	2 SubmittersRCV000496126 RCV003332185
NM_000489.6(ATRX):c.4035G>A (p.Leu1345=)	SNV Germline	ChrX:77663467	Conflicting classifications of pathogenicity	not specified Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases ATRX-related disorder	Criteria Provided Conflicting Classifications	CA331568072	rs_111725949	4 SubmittersRCV000499963 RCV001475959 RCV002316433 RCV004541554
NM_000489.6(ATRX):c.4031A>G (p.Lys1344Arg)	SNV Germline	ChrX:77663471	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided ATRX-related disorder	Criteria Provided Conflicting Classifications	CA10457855	rs_782556767	5 SubmittersRCV000499926 RCV000624685 RCV000692943 RCV000833627 RCV004535587
NM_000489.6(ATRX):c.3513A>T (p.Arg1171Ser)	SNV Germline	ChrX:77681743	Conflicting classifications of pathogenicity	not specified Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA413706324	rs_868995055	2 SubmittersRCV000501722 RCV001857076
NM_000489.6(ATRX):c.2484G>C (p.Met828Ile)	SNV Germline	ChrX:77682772	Conflicting classifications of pathogenicity	not specified Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA10458079	rs_782705007	3 SubmittersRCV000503517 RCV000640828
NM_000517.6(HBA2):c.45G>C (p.Trp15Cys)	SNV Germline	Chr16:172957	Conflicting classifications of pathogenicity	Condition: not provided alpha Thalassemia	Criteria Provided Conflicting Classifications	CA276414368	rs_63750367	3 SubmittersRCV001810982 RCV001829444
NM_000517.6(HBA2):c.95+1G>A	SNV Germline	Chr16:173008	Pathogenic	Condition: not provided not specified alpha Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA393993203	rs_63750158	3 SubmittersRCV000507864 RCV001000976 RCV001829445
NM_000517.6(HBA2):c.179G>A (p.Gly60Asp)	SNV Germline	Chr16:173208	Pathogenic	Condition: not provided Non-immune hydrops fetalis HEMOGLOBIN H HYDROPS FETALIS SYNDROME alpha Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA276414731	rs_281864846	5 SubmittersRCV000507118 RCV001376060 RCV001678588 RCV003323574
NM_000558.5(HBA1):c.43T>C (p.Trp15Arg)	SNV Germline	Chr16:176759	Pathogenic/Likely pathogenic	Condition: not provided alpha Thalassemia	Criteria Provided Multiple Submitters No Conflicts	CA7770225	rs_33964317	4 SubmittersRCV000506883 RCV001078391
NM_000489.6(ATRX):c.6110+15A>G	SNV Germline	ChrX:77593681	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA642694807	rs_1309299805	2 SubmittersRCV000514849 RCV002060207
NM_000489.6(ATRX):c.3527A>T (p.Lys1176Met)	SNV Germline	ChrX:77681729	Conflicting classifications of pathogenicity	not specified Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases Developmental disorder ATRX-related disorder	Criteria Provided Conflicting Classifications	CA10457944	rs_191563592	6 SubmittersRCV000518691 RCV000866150 RCV002455990 RCV003126788 RCV004541602
NM_000489.6(ATRX):c.1345C>G (p.Pro449Ala)	SNV Germline	ChrX:77683911	Conflicting classifications of pathogenicity	not specified Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA413718443	rs_1557141862	2 SubmittersRCV000517779 RCV001851425
NM_000489.6(ATRX):c.3211G>A (p.Gly1071Arg)	SNV Germline	ChrX:77682045	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Acquired hemoglobin H disease Alpha thalassemia-X-linked intellectual disability syndrome Intellectual disability-hypotonic facies syndrome, X-linked, 1 Inborn genetic diseases ATRX-related disorder	Criteria Provided Conflicting Classifications	CA10457983	rs_143621153	4 SubmittersRCV000535770 RCV000764880 RCV002316547 RCV004541698
NM_000489.6(ATRX):c.2696C>T (p.Thr899Met)	SNV Germline	ChrX:77682560	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10458043	rs_782757975	3 SubmittersRCV000533069 RCV002438372
NM_000489.6(ATRX):c.4249C>T (p.Arg1417Trp)	SNV Germline	ChrX:77654166	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA413709531	rs_1557118764	2 SubmittersRCV000585485 RCV001416239
NM_000489.6(ATRX):c.1439C>T (p.Thr480Ile)	SNV Germline	ChrX:77683817	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA10458200	rs_782751824	2 SubmittersRCV000584953 RCV001517957
NM_000489.6(ATRX):c.7201-4A>G	SNV Germline	ChrX:77508633	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome Intellectual disability-hypotonic facies syndrome, X-linked, 1 Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA10457403	rs_782317502	4 SubmittersRCV000592827 RCV001086132 RCV002275064
NM_000489.6(ATRX):c.7432C>G (p.Pro2478Ala)	SNV Germline	ChrX:77508398	Conflicting classifications of pathogenicity	Inborn genetic diseases Alpha thalassemia-X-linked intellectual disability syndrome Acquired hemoglobin H disease Alpha thalassemia-X-linked intellectual disability syndrome Intellectual disability-hypotonic facies syndrome, X-linked, 1	Criteria Provided Conflicting Classifications	CA10457377	rs_199543136	3 SubmittersRCV000623175 RCV000976466 RCV000766105
NM_000489.6(ATRX):c.6887A>G (p.Asn2296Ser)	SNV Germline	ChrX:77522351	Conflicting classifications of pathogenicity	Inborn genetic diseases Intellectual disability-hypotonic facies syndrome, X-linked, 1 Acquired hemoglobin H disease Alpha thalassemia-X-linked intellectual disability syndrome Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA10457446	rs_782274478	3 SubmittersRCV000623676 RCV000764878 RCV001438668
NM_000489.6(ATRX):c.5271G>C (p.Glu1757Asp)	SNV Germline	ChrX:77620396	Conflicting classifications of pathogenicity	Inborn genetic diseases not specified Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA413701291	rs_141240580	3 SubmittersRCV000623581 RCV001201290 RCV001855297
NM_000489.6(ATRX):c.3913A>C (p.Lys1305Gln)	SNV Germline	ChrX:77664675	Conflicting classifications of pathogenicity	Inborn genetic diseases Alpha thalassemia-X-linked intellectual disability syndrome Intellectual disability-hypotonic facies syndrome, X-linked, 1	Criteria Provided Conflicting Classifications	CA10457874	rs_782708557	4 SubmittersRCV000622873 RCV000863037 RCV001449593
NM_000489.6(ATRX):c.913A>G (p.Ser305Gly)	SNV Germline	ChrX:77684343	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10458254	rs_782778928	2 SubmittersRCV000640856 RCV002529994
NM_000489.6(ATRX):c.4210A>G (p.Thr1404Ala)	SNV Germline	ChrX:77656564	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases ATRX-related disorder	Criteria Provided Conflicting Classifications	CA10457838	rs_781835568	4 SubmittersRCV000640833 RCV002331172 RCV004533350
NM_000489.6(ATRX):c.5039T>C (p.Ile1680Thr)	SNV Germline	ChrX:77633302	Pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter		rs_1557106482	1 SubmittersRCV000659282
NM_000489.6(ATRX):c.7192C>T (p.Gln2398Ter)	SNV Unknown	ChrX:77520796	Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter		rs_1569515457	1 SubmittersRCV000678967
NM_000489.6(ATRX):c.4317G>A (p.Lys1439=)	SNV Germline	ChrX:77654098	Pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter		rs_1569535642	1 SubmittersRCV000679879
NM_000489.6(ATRX):c.3538A>G (p.Ile1180Val)	SNV Germline	ChrX:77681718	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_782554626	3 SubmittersRCV000692042 RCV003144514
NM_000489.6(ATRX):c.4004G>T (p.Arg1335Ile)	SNV Germline	ChrX:77663498	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Acquired hemoglobin H disease Alpha thalassemia-X-linked intellectual disability syndrome Intellectual disability-hypotonic facies syndrome, X-linked, 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1569536694	3 SubmittersRCV000692936 RCV000764879 RCV003442025
NM_000489.6(ATRX):c.2615A>T (p.Gln872Leu)	SNV Germline	ChrX:77682641	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_782162927	2 SubmittersRCV000703858 RCV004026645
NM_000489.6(ATRX):c.4073C>T (p.Thr1358Ile)	SNV Germline	ChrX:77663429	Conflicting classifications of pathogenicity	Inborn genetic diseases Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications		rs_1557124033	2 SubmittersRCV002312272 RCV002532985
NM_000489.6(ATRX):c.4810-3T>C	SNV Germline	ChrX:77633715	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_370596323	3 SubmittersRCV000730810 RCV001080925 RCV002315420
NM_000489.6(ATRX):c.1346C>G (p.Pro449Arg)	SNV Germline	ChrX:77683910	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_782163488	3 SubmittersRCV001830590 RCV002314580
NM_000489.6(ATRX):c.3152A>G (p.Asp1051Gly)	SNV Germline	ChrX:77682104	Conflicting classifications of pathogenicity	Inborn genetic diseases Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications		rs_1557138081	2 SubmittersRCV002312276 RCV002534530
NM_000489.6(ATRX):c.1168C>T (p.Arg390Cys)	SNV Germline	ChrX:77684088	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases Condition: not provided ATRX-related disorder	Criteria Provided Conflicting Classifications		rs_150484080	4 SubmittersRCV000875902 RCV002317949 RCV003228984 RCV004535789
NM_000517.6(HBA2):c.75T>G (p.Tyr25Ter)	SNV Germline	Chr16:172987	Pathogenic	alpha Thalassemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_281864550	3 SubmittersRCV001275679 RCV001800864
NM_000517.6(HBA2):c.98T>G (p.Met33Arg)	SNV Germline	Chr16:173127	Conflicting classifications of pathogenicity	Condition: not provided not specified alpha Thalassemia	Criteria Provided Conflicting Classifications		rs_1468615416	3 SubmittersRCV000756228 RCV001000071 RCV003323709
NM_000489.6(ATRX):c.2890A>G (p.Ile964Val)	SNV Germline	ChrX:77682366	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1271635013	3 SubmittersRCV000823319 RCV003169051
NM_000489.6(ATRX):c.1645A>G (p.Ser549Gly)	SNV Germline	ChrX:77683611	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_148513102	3 SubmittersRCV000809640 RCV001266043
NM_000489.6(ATRX):c.1130C>T (p.Ala377Val)	SNV Germline	ChrX:77684126	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_781955237	3 SubmittersRCV000810993 RCV001776024
NM_000489.6(ATRX):c.737G>T (p.Arg246Leu)	SNV Germline	ChrX:77684519	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1603226766	2 SubmittersRCV000808033 RCV002381785
NM_000489.6(ATRX):c.16A>G (p.Met6Val)	SNV Germline	ChrX:77785986	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_782080475	3 SubmittersRCV000801601 RCV001566085
NM_000489.6(ATRX):c.5048A>G (p.Tyr1683Cys)	SNV Germline	ChrX:77633293	Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter		rs_1602979414	1 SubmittersRCV000853395
NM_000489.6(ATRX):c.4558-3T>G	SNV Unknown	ChrX:77636059	Pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter		rs_1602996115	1 SubmittersRCV000856787
NM_000489.6(ATRX):c.1974T>G (p.Arg658=)	SNV Germline	ChrX:77683282	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Intellectual disability-hypotonic facies syndrome, X-linked, 1	Criteria Provided Conflicting Classifications		rs_1603222314	2 SubmittersRCV000866682 RCV002227500
NM_000489.6(ATRX):c.1606A>G (p.Met536Val)	SNV Germline	ChrX:77683650	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_781865069	4 SubmittersRCV000868113 RCV001796287 RCV001816982 RCV004027713
NM_000558.5(HBA1):c.96-1G>A	SNV Germline	Chr16:176928	Pathogenic/Likely pathogenic	Condition: not provided alpha Thalassemia Heinz body anemia Methemoglobinemia, alpha type Erythrocytosis, familial, 7 Hemoglobin H disease alpha Thalassemia HBA1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_34883113	5 SubmittersRCV000985716 RCV002466598 RCV002503142 RCV003918611
NM_000489.6(ATRX):c.6104A>G (p.Asp2035Gly)	SNV Unknown	ChrX:77593702	Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter		rs_122445096	1 SubmittersRCV000990873
NM_000489.6(ATRX):c.5405A>C (p.Lys1802Thr)	SNV Unknown	ChrX:77618849	Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter		rs_1602876401	1 SubmittersRCV000990874
NM_000517.6(HBA2):c.313T>C (p.Cys105Arg)	SNV Germline	Chr16:173484	Pathogenic	alpha Thalassemia	Criteria Provided Single Submitter		rs_1263969213	1 SubmittersRCV000991152
NM_000489.6(ATRX):c.4957-4A>G	SNV Germline	ChrX:77633388	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications		rs_1602979818	3 SubmittersRCV000995969 RCV001253370
NM_000489.6(ATRX):c.3701T>G (p.Val1234Gly)	SNV Germline	ChrX:77681555	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications		rs_782816523	2 SubmittersRCV000995971 RCV001869392
NM_000558.5(HBA1):c.358C>T (p.Pro120Ser)	SNV Germline	Chr16:177340	Pathogenic	alpha Thalassemia Condition: not provided Heinz body anemia Methemoglobinemia, alpha type Erythrocytosis, familial, 7 Hemoglobin H disease alpha Thalassemia	Criteria Provided Multiple Submitters No Conflicts		rs_63750751	7 SubmittersRCV001027960 RCV001283983 RCV002489508
NM_000489.6(ATRX):c.3437C>A (p.Thr1146Asn)	SNV Germline	ChrX:77681819	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_368828845	2 SubmittersRCV001059008 RCV003490045
NM_000489.6(ATRX):c.2348G>C (p.Ser783Thr)	SNV Germline	ChrX:77682908	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome not specified	Criteria Provided Conflicting Classifications		rs_782530243	3 SubmittersRCV001039255 RCV002239292
NM_000489.6(ATRX):c.1727C>A (p.Ser576Ter)	SNV Germline	ChrX:77683529	Pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2071372283	2 SubmittersRCV001039588 RCV001268111
NM_000517.6(HBA2):c.377T>A (p.Leu126Gln)	SNV Germline	Chr16:173548	Pathogenic	alpha Thalassemia	No Assertion Criteria Provided		rs_41397847	1 SubmittersRCV001078247
NM_000558.5(HBA1):c.2T>G (p.Met1Arg)	SNV Unknown	Chr16:176718	Pathogenic	alpha Thalassemia	Criteria Provided Single Submitter		rs_1316527998	1 SubmittersRCV001169875
NM_000489.6(ATRX):c.1212G>C (p.Lys404Asn)	SNV Germline	ChrX:77684044	Conflicting classifications of pathogenicity	not specified Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_2071413817	4 SubmittersRCV001175581 RCV001345479 RCV001562548
NM_000489.6(ATRX):c.1253G>A (p.Arg418Gln)	SNV Germline	ChrX:77684003	Conflicting classifications of pathogenicity	not specified Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications		rs_1557142053	2 SubmittersRCV001193049 RCV003512108
NM_000489.6(ATRX):c.3285G>T (p.Lys1095Asn)	SNV Germline	ChrX:77681971	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Alpha thalassemia-X-linked intellectual disability syndrome Intellectual disability-hypotonic facies syndrome, X-linked, 1	Criteria Provided Conflicting Classifications		rs_1308342676	3 SubmittersRCV001224371 RCV002265962
NM_000489.6(ATRX):c.3270G>C (p.Glu1090Asp)	SNV Germline	ChrX:77681986	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_781992894	2 SubmittersRCV001219155 RCV001587239
NM_000489.6(ATRX):c.7141G>T (p.Glu2381Ter)	SNV Germline	ChrX:77520847	Pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter		rs_1557041077	1 SubmittersRCV001227108
NM_000489.6(ATRX):c.4069A>T (p.Lys1357Ter)	SNV Germline	ChrX:77663433	Pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter		rs_2070037318	1 SubmittersRCV001235205
NM_000489.6(ATRX):c.35A>G (p.Asn12Ser)	SNV Germline	ChrX:77717229	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_782399326	2 SubmittersRCV001239681 RCV002563952
NM_000489.6(ATRX):c.1727C>G (p.Ser576Ter)	SNV Germline	ChrX:77683529	Pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter		rs_2071372283	1 SubmittersRCV001253201
NM_000489.6(ATRX):c.77C>A (p.Ser26Ter)	SNV Germline	ChrX:77717187	Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter		rs_2073481839	1 SubmittersRCV001255468
NM_000489.6(ATRX):c.1648A>G (p.Ser550Gly)	SNV Germline	ChrX:77683608	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_201284965	3 SubmittersRCV001262504 RCV002393675
NM_000489.6(ATRX):c.7439G>A (p.Arg2480Lys)	SNV Germline	ChrX:77508391	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_369871569	3 SubmittersRCV001279979 RCV001776168
NM_000558.5(HBA1):c.178G>C (p.Gly60Arg)	SNV Germline	Chr16:177011	Pathogenic	Condition: not provided alpha Thalassemia	Criteria Provided Multiple Submitters No Conflicts		rs_281864895	2 SubmittersRCV001283978 RCV003331101
NM_000489.6(ATRX):c.6618A>G (p.Glu2206=)	SNV Germline	ChrX:77557532	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications		rs_2064850147	3 SubmittersRCV001288808 RCV001436639
NM_000489.6(ATRX):c.2815G>C (p.Val939Leu)	SNV Germline	ChrX:77682441	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided Alpha thalassemia X-linked intellectual disability (ATRX) syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_149195735	5 SubmittersRCV001301952 RCV001776180 RCV002466656 RCV003284152
NM_000489.6(ATRX):c.2787G>C (p.Glu929Asp)	SNV Germline	ChrX:77682469	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Intellectual disability-hypotonic facies syndrome, X-linked, 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_782283059	5 SubmittersRCV001303921 RCV001779152 RCV002437030
NM_000489.6(ATRX):c.4201C>T (p.Arg1401Trp)	SNV Germline	ChrX:77656573	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_1557119999	4 SubmittersRCV001326067 RCV001806125
NM_000489.6(ATRX):c.2953A>G (p.Ser985Gly)	SNV Germline	ChrX:77682303	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_782424160	2 SubmittersRCV001321060 RCV001776195
NM_000489.6(ATRX):c.5449-7A>G	SNV Germline	ChrX:77616737	Likely pathogenic	Intellectual disability-hypotonic facies syndrome, X-linked, 1 Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_2067371776	2 SubmittersRCV001329934 RCV001598686
NM_000489.6(ATRX):c.2329G>C (p.Gly777Arg)	SNV Germline	ChrX:77682927	Conflicting classifications of pathogenicity	Intellectual disability-hypotonic facies syndrome, X-linked, 1 Inborn genetic diseases Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications		rs_1411348345	3 SubmittersRCV001329931 RCV002546364 RCV002546363
NM_000489.6(ATRX):c.2777G>A (p.Gly926Glu)	SNV Germline	ChrX:77682479	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_2071271385	2 SubmittersRCV001344013 RCV001546689
NM_000489.6(ATRX):c.485-1G>A	SNV Germline	ChrX:77688928	Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter		rs_2148657465	1 SubmittersRCV001379146
NM_000489.6(ATRX):c.1960C>T (p.Arg654Ter)	SNV Germline	ChrX:77683296	Pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter		rs_1557140492	1 SubmittersRCV001387072
NM_000489.6(ATRX):c.3067G>C (p.Glu1023Gln)	SNV Germline	ChrX:77682189	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_367700285	4 SubmittersRCV001408998 RCV001573254 RCV002553438
NM_000489.6(ATRX):c.2907A>C (p.Leu969=)	SNV Germline	ChrX:77682349	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_782330959	2 SubmittersRCV001447795 RCV003145664
NM_000489.6(ATRX):c.1262A>G (p.Asp421Gly)	SNV Germline	ChrX:77683994	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_782817063	2 SubmittersRCV001449124 RCV003145665
NM_000489.6(ATRX):c.3737-8C>T	SNV Germline	ChrX:77676306	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome not specified	Criteria Provided Conflicting Classifications		rs_2070862607	2 SubmittersRCV001461003 RCV003490255
NM_000489.6(ATRX):c.3387G>A (p.Leu1129=)	SNV Germline	ChrX:77681869	Conflicting classifications of pathogenicity	Intellectual disability-hypotonic facies syndrome, X-linked, 1 Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications		rs_3761507	3 SubmittersRCV001559292 RCV001451394
NM_000489.6(ATRX):c.2692G>C (p.Asp898His)	SNV Germline	ChrX:77682564	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_781903868	3 SubmittersRCV001474706 RCV001751770 RCV001820171
NM_000489.6(ATRX):c.1246G>A (p.Glu416Lys)	SNV Germline	ChrX:77684010	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_782253905	2 SubmittersRCV001475917 RCV002396130
NM_000489.6(ATRX):c.485-7C>G	SNV Germline	ChrX:77688934	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_1225852818	2 SubmittersRCV001467941 RCV002254966
NM_000489.6(ATRX):c.6207T>C (p.Leu2069=)	SNV Germline	ChrX:77589844	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_369953134	2 SubmittersRCV001485124 RCV003238373
NM_000489.6(ATRX):c.4048G>A (p.Gly1350Arg)	SNV Germline	ChrX:77663454	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome not specified	Criteria Provided Conflicting Classifications		rs_782726588	2 SubmittersRCV001490449 RCV004526126
NM_000489.6(ATRX):c.2573A>G (p.Lys858Arg)	SNV Germline	ChrX:77682683	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases ATRX-related disorder	Criteria Provided Conflicting Classifications		rs_782593341	3 SubmittersRCV001523090 RCV004037958 RCV004533948
NM_000489.6(ATRX):c.5540A>G (p.Tyr1847Cys)	SNV Germline	ChrX:77616639	Likely pathogenic	Neonatal hypotonia Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1057521987	2 SubmittersRCV001526627 RCV001882566
NM_000489.6(ATRX):c.3848A>G (p.Asn1283Ser)	SNV Germline	ChrX:77664740	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications		rs_201588422	3 SubmittersRCV001531792 RCV002568900
NM_000489.6(ATRX):c.6253C>T (p.Arg2085Cys)	SNV Germline	ChrX:77574323	Pathogenic/Likely pathogenic	Condition: not provided Abnormality of the nervous system Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_2148019913	3 SubmittersRCV001557178 RCV001814494 RCV001824991
NM_000489.6(ATRX):c.2312C>T (p.Ala771Val)	SNV Germline	ChrX:77682944	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_376906761	4 SubmittersRCV001553088 RCV001827461 RCV002449365
NM_000489.6(ATRX):c.5222G>A (p.Arg1741Lys)	SNV Germline	ChrX:77620445	Conflicting classifications of pathogenicity	Condition: not provided ATRX-related disorder Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications		rs_1448764008	3 SubmittersRCV001555452 RCV001824995 RCV002032607
NM_000489.6(ATRX):c.3933A>G (p.Pro1311=)	SNV Germline	ChrX:77664655	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications		rs_2148496532	2 SubmittersRCV001768231 RCV002074038
NM_000489.6(ATRX):c.6235C>T (p.Arg2079Ter)	SNV Germline/somatic	ChrX:77574341	Pathogenic	Adrenal cortex carcinoma Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter		rs_2148020083	2 SubmittersRCV001815150 RCV003624466
NM_000489.6(ATRX):c.3452G>C (p.Ser1151Thr)	SNV Germline	ChrX:77681804	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Intellectual disability-hypotonic facies syndrome, X-linked, 1 Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications		rs_782073135	2 SubmittersRCV001839259 RCV003624468
NM_000489.6(ATRX):c.3422G>A (p.Ser1141Asn)	SNV Germline	ChrX:77681834	Conflicting classifications of pathogenicity	Intellectual disability-hypotonic facies syndrome, X-linked, 1 Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications		rs_782785569	2 SubmittersRCV001839479 RCV003624469
NM_000489.6(ATRX):c.3649G>C (p.Gly1217Arg)	SNV Germline	ChrX:77681607	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_781917332	2 SubmittersRCV001975353 RCV003227053
NM_000489.6(ATRX):c.6743T>C (p.Ile2248Thr)	SNV Germline	ChrX:77523358	Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter		rs_2147761759	1 SubmittersRCV002037060
NM_000489.6(ATRX):c.5542C>G (p.Gln1848Glu)	SNV Germline	ChrX:77616637	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1557096992	2 SubmittersRCV002030400 RCV003170385
NM_000489.6(ATRX):c.4317+8T>C	SNV Germline	ChrX:77654090	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_2069418640	2 SubmittersRCV002208426 RCV003146521
NM_000489.6(ATRX):c.2744G>C (p.Ser915Thr)	SNV Germline	ChrX:77682512	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_782427910	3 SubmittersRCV002211960 RCV002261449 RCV004045592
NM_000489.6(ATRX):c.5927A>G (p.Asn1976Ser)	SNV Germline	ChrX:77599440	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_782151425	2 SubmittersRCV002111508 RCV003025378
NM_000489.6(ATRX):c.565C>T (p.His189Tyr)	SNV Unknown	ChrX:77688847	Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter		rs_2148656473	1 SubmittersRCV002226570
NM_000489.6(ATRX):c.2422C>T (p.Arg808Ter)	SNV Germline	ChrX:77682834	Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter		rs_891068548	1 SubmittersRCV002238573
NM_000517.6(HBA2):c.46G>T (p.Gly16Cys)	SNV Unknown	Chr16:172958	Likely pathogenic	alpha Thalassemia	No Assertion Criteria Provided		rs_281864811	1 SubmittersRCV002243538
NM_000489.6(ATRX):c.5786A>G (p.Lys1929Arg)	SNV Germline	ChrX:77599732	Conflicting classifications of pathogenicity	not specified Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications		rs_1569528833	2 SubmittersRCV002271738 RCV003096108
NM_000489.6(ATRX):c.1894G>A (p.Glu632Lys)	SNV Germline	ChrX:77683362	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications		rs_1557140572	2 SubmittersRCV002275833 RCV003774881
NM_000489.6(ATRX):c.5368G>A (p.Ala1790Thr)	SNV Germline	ChrX:77618886	Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002299866
NM_000489.6(ATRX):c.4214+19A>T	SNV Germline	ChrX:77656541	Conflicting classifications of pathogenicity	Inborn genetic diseases Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV002327980 RCV003512152
NM_000489.6(ATRX):c.3278G>T (p.Arg1093Met)	SNV Germline	ChrX:77681978	Conflicting classifications of pathogenicity	Inborn genetic diseases Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV002325041 RCV003624476
NM_000489.6(ATRX):c.4035G>C (p.Leu1345Phe)	SNV Germline	ChrX:77663467	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV003060977 RCV003317644
NM_000489.6(ATRX):c.3196A>G (p.Lys1066Glu)	SNV Germline	ChrX:77682060	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Intellectual disability-hypotonic facies syndrome, X-linked, 1	Criteria Provided Conflicting Classifications			2 SubmittersRCV003080289 RCV003147820
NM_000489.6(ATRX):c.3122A>T (p.Asp1041Val)	SNV Germline	ChrX:77682134	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV002629852 RCV003229937
NM_000489.6(ATRX):c.1865C>T (p.Pro622Leu)	SNV Germline	ChrX:77683391	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV002846863 RCV003225244
NM_000489.6(ATRX):c.2124A>G (p.Ile708Met)	SNV Germline	ChrX:77683132	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome ATRX-related disorder	Criteria Provided Conflicting Classifications			2 SubmittersRCV002982981 RCV004529184
NM_000489.6(ATRX):c.344A>T (p.Asp115Val)	SNV Germline	ChrX:77696603	Conflicting classifications of pathogenicity	Inborn genetic diseases Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV002940573 RCV003512190
NM_000517.6(HBA2):c.73T>G (p.Tyr25Asp)	SNV Unknown	Chr16:172985	Pathogenic	alpha Thalassemia	No Assertion Criteria Provided		rs_281864821	1 SubmittersRCV003110192
NM_000517.6(HBA2):c.300+1G>A	SNV Germline	Chr16:173330	Likely pathogenic	Condition: not provided alpha Thalassemia	Criteria Provided Single Submitter			2 SubmittersRCV003120280 RCV003984350
NM_000489.6(ATRX):c.1396A>T (p.Arg466Ter)	SNV Germline	ChrX:77683860	Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003123392
NM_000489.6(ATRX):c.758T>C (p.Leu253Ser)	SNV Unknown	ChrX:77684498	Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome Intellectual disability-hypotonic facies syndrome, X-linked, 1	Criteria Provided Single Submitter			1 SubmittersRCV003148562 RCV003148563
NM_000558.5(HBA1):c.2T>A (p.Met1Lys)	SNV Germline	Chr16:176718	Likely pathogenic	alpha Thalassemia	Criteria Provided Single Submitter			1 SubmittersRCV003317778
NM_000517.6(HBA2):c.320T>G (p.Leu107Arg)	SNV Unknown	Chr16:173491	Pathogenic	alpha Thalassemia	No Assertion Criteria Provided			1 SubmittersRCV004548630
NM_000489.6(ATRX):c.4825C>T (p.His1609Tyr)	SNV Germline	ChrX:77633697	Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003397224
NM_000489.6(ATRX):c.5557C>T (p.His1853Tyr)	SNV Germline	ChrX:77616622	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV003439686 RCV003512226
NM_000489.6(ATRX):c.6793G>A (p.Glu2265Lys)	SNV Germline	ChrX:77523308	Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003444076
NM_000517.6(HBA2):c.389T>C (p.Leu130Pro)	SNV Germline	Chr16:173560	Pathogenic	alpha Thalassemia	Criteria Provided Single Submitter			1 SubmittersRCV003486522
NM_000489.6(ATRX):c.3064C>T (p.Arg1022Ter)	SNV Germline	ChrX:77682192	Pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003512412
NM_000489.6(ATRX):c.1252C>T (p.Arg418Ter)	SNV Germline	ChrX:77684004	Pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003513324
NM_000489.6(ATRX):c.2711T>A (p.Leu904Ter)	SNV Germline	ChrX:77682545	Pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003511802
NM_000478.6(ALPL):c.659G>A (p.Gly220Glu)	SNV Germline	Chr1:21568114	Likely pathogenic	Condition: not provided Hypophosphatasia Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003567461 RCV004526999 RCV004540724
NM_000489.6(ATRX):c.6331C>T (p.Arg2111Ter)	SNV Germline	ChrX:77558842	Pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003624849
NM_000489.6(ATRX):c.485-2A>T	SNV Germline	ChrX:77688929	Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003625625
NM_000489.6(ATRX):c.4981C>T (p.Arg1661Cys)	SNV Unknown	ChrX:77633360	Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003988713
NM_000558.5(HBA1):c.99G>A (p.Met33Ile)	SNV Germline	Chr16:176932	Likely pathogenic	alpha Thalassemia	Criteria Provided Single Submitter			1 SubmittersRCV004018219
NM_000558.5(HBA1):c.44G>A (p.Trp15Ter)	SNV Germline	Chr16:176760	Pathogenic	alpha Thalassemia	Criteria Provided Single Submitter			1 SubmittersRCV004018220
NM_000517.6(HBA2):c.2T>G (p.Met1Arg)	SNV Germline	Chr16:172914	Likely pathogenic	alpha Thalassemia	Criteria Provided Single Submitter			1 SubmittersRCV004018237

NM_000489.6(ATRX):c.4826A>G (p.His1609Arg)

SNV
Germline

ChrX:77633696

Likely pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA256016

rs_122445093

2 SubmittersRCV000012487 RCV002285255

NM_000489.6(ATRX):c.4840T>C (p.Cys1614Arg)

SNV
Germline

ChrX:77633682

Pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

No Assertion Criteria Provided

CA256019

rs_122445094

1 SubmittersRCV000012488

NM_000489.6(ATRX):c.4950G>T (p.Lys1650Asn)

SNV
Germline

ChrX:77633572

Pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

No Assertion Criteria Provided

CA256022

rs_122445095

1 SubmittersRCV000012489

NM_000489.6(ATRX):c.6104A>T (p.Asp2035Val)

SNV
Germline

ChrX:77593702

Pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

No Assertion Criteria Provided

CA256025

rs_122445096

1 SubmittersRCV000012491

NM_000489.6(ATRX):c.6250T>C (p.Tyr2084His)

SNV
Germline

ChrX:77574326

Pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

No Assertion Criteria Provided

CA256028

rs_122445097

1 SubmittersRCV000012492

NM_000489.6(ATRX):c.6488A>G (p.Tyr2163Cys)

SNV
Germline

ChrX:77558685

Pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

No Assertion Criteria Provided

CA256031

rs_122445098

1 SubmittersRCV000012493

NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter)

SNV
Germline

ChrX:77520832

Pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome
Ambiguous genitalia
Intellectual disability, severe
Cryptorchidism
Microcephaly
Bone osteosarcoma
Condition: not provided
Intellectual disability-hypotonic facies syndrome, X-linked, 1
See cases
ATRX-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA256034

rs_122445099

7 SubmittersRCV000012494 RCV000735339 RCV000723525 RCV002283442 RCV003156057 RCV004532323

NM_000489.6(ATRX):c.7162G>T (p.Glu2388Ter)

SNV
Germline

ChrX:77520826

Pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

No Assertion Criteria Provided

CA256039

rs_122445100

1 SubmittersRCV000012495

NM_000489.6(ATRX):c.5273-10T>A

SNV
Germline

ChrX:77618991

Pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

No Assertion Criteria Provided

rs_2148261114

1 SubmittersRCV000012496

NM_000489.6(ATRX):c.6392G>A (p.Arg2131Gln)

SNV
Germline

ChrX:77558781

Pathogenic

Intellectual disability-hypotonic facies syndrome, X-linked
Intellectual disability-hypotonic facies syndrome, X-linked, 1
Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided
ATRX-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA121644

rs_122445101

4 SubmittersRCV000012497 RCV000199096 RCV002272014 RCV004528102

NM_000489.6(ATRX):c.751A>G (p.Lys251Glu)

SNV
Germline

ChrX:77684505

Pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

No Assertion Criteria Provided

rs_1569539477

1 SubmittersRCV000012499

NM_000489.6(ATRX):c.568C>G (p.Pro190Ala)

SNV
Germline

ChrX:77688844

Likely pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome
Alpha thalassemia-X-linked intellectual disability syndrome
Intellectual disability-hypotonic facies syndrome, X-linked, 1

Criteria Provided
Single Submitter

CA256044

rs_122445103

2 SubmittersRCV000012500 RCV000197579

NM_000489.6(ATRX):c.736C>T (p.Arg246Cys)

SNV
Germline

ChrX:77684520

Pathogenic/Likely pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided
Inborn genetic diseases
Renier-Gabreels-Jasper syndrome
Intellectual disability-hypotonic facies syndrome, X-linked, 1
Acquired hemoglobin H disease
Alpha thalassemia-X-linked intellectual disability syndrome
Intellectual disability-hypotonic facies syndrome, X-linked, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA204872

rs_122445105

18 SubmittersRCV000012501 RCV000078972 RCV000190796 RCV001249275 RCV000763634 RCV001252427

NM_000489.6(ATRX):c.5225G>A (p.Arg1742Lys)

SNV
Germline

ChrX:77620442

Pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

No Assertion Criteria Provided

CA256047

rs_122445104

1 SubmittersRCV000012502

NM_000489.6(ATRX):c.4862C>T (p.Thr1621Met)

SNV
Germline

ChrX:77633660

Likely pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome
Intellectual disability-hypotonic facies syndrome, X-linked, 1

Criteria Provided
Single Submitter

CA256049

rs_122445106

2 SubmittersRCV000012505 RCV003128081

NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)

SNV
Germline

ChrX:77717155

Pathogenic/Likely pathogenic

Intellectual disability-hypotonic facies syndrome, X-linked
Alpha thalassemia-X-linked intellectual disability syndrome
Intellectual disability
Intellectual disability-hypotonic facies syndrome, X-linked, 1
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA121653

rs_122445108

12 SubmittersRCV000012508 RCV000148028 RCV000224314 RCV000680146 RCV002444427 RCV003151722

NM_000489.6(ATRX):c.659G>A (p.Cys220Tyr)

SNV
Germline

ChrX:77684942

Pathogenic/Likely pathogenic

Intellectual disability-hypotonic facies syndrome, X-linked
Inborn genetic diseases
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA121660

rs_122445111

3 SubmittersRCV000012511 RCV000624600 RCV001582475

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

SNV
Germline

Chr11:5226774

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125259

rs_11549407

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

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

SNV
Germline

Chr16:173598

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA125550

rs_41464951

5 SubmittersRCV000016893 RCV000022603 RCV000985726 RCV002250461 RCV004017255

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

SNV
Germline

Chr16:173599

Pathogenic/Likely pathogenic

HEMOGLOBIN KOYA DORA
Condition: not provided
alpha Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA125552

rs_41321345

4 SubmittersRCV000016894 RCV000759055 RCV004546413

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

SNV
Germline

Chr16:173548

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125557

rs_41397847

6 SubmittersRCV000016897 RCV000417220 RCV001811168 RCV002476982

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

SNV
Germline

Chr16:173500

Pathogenic; other

HEMOGLOBIN SUAN-DOK
alpha Thalassemia

No Assertion Criteria Provided

CA125561

rs_41479844

2 SubmittersRCV000016899 RCV001078246

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

SNV
Germline

Chr16:173171

Conflicting classifications of pathogenicity

HEMOGLOBIN L (FERRARA)
HEMOGLOBIN SINAI
HEMOGLOBIN HASHARON
HEMOGLOBIN SEALY
Condition: not provided
alpha Thalassemia

Criteria Provided
Conflicting Classifications

CA125569

rs_281864834

5 SubmittersRCV000016910 RCV000016912 RCV000016911 RCV000016913 RCV001544589 RCV001275680

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

SNV
Germline

Chr16:172914

Pathogenic

alpha Thalassemia
Condition: not provided

Criteria Provided
Single Submitter

CA281645

rs_111033603

4 SubmittersRCV000016929 RCV003654177

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

SNV
Germline

Chr16:173520

Pathogenic

alpha Thalassemia

No Assertion Criteria Provided

CA281647

rs_33987053

1 SubmittersRCV000016930

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

SNV
Germline

Chr16:172913

Pathogenic

Hemoglobin H disease, nondeletional
alpha Thalassemia
Condition: not provided

Criteria Provided
Single Submitter

CA125582

rs_121909803

3 SubmittersRCV000016931 RCV001078242 RCV001284141

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

SNV
Germline

Chr16:173692

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125586

rs_63750067

8 SubmittersRCV000016933 RCV000022604 RCV000507591 RCV001831575 RCV002476983 RCV003989291 RCV004017256

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

SNV
Germline

Chr16:173600

Pathogenic

Hemoglobin H disease, nondeletional
Condition: not provided
alpha Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA125595

rs_41412046

5 SubmittersRCV000016938 RCV000508511 RCV001831576

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

SNV
Germline

Chr16:173598

Pathogenic/Likely pathogenic

HEMOGLOBIN SEAL ROCK
Condition: not provided
alpha Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA125597

rs_41464951

5 SubmittersRCV000016939 RCV000759054 RCV001275682

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

SNV
Germline

Chr16:173485

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125601

rs_41417548

4 SubmittersRCV000016942 RCV000022606 RCV001811170 RCV002051787

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

SNV
Germline

Chr16:173471

Likely pathogenic

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

Criteria Provided
Single Submitter

CA125624

rs_587776827

3 SubmittersRCV000016954 RCV000022607 RCV001078244 RCV002496386

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

SNV
Germline

Chr16:173123

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125641

rs_41457746

5 SubmittersRCV000016968 RCV001572897 RCV002482879

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

SNV
Germline

Chr16:172982

Likely pathogenic

alpha Thalassemia
Condition: not provided

Criteria Provided
Single Submitter

CA281649

rs_281864819

3 SubmittersRCV000016976 RCV000985729

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

SNV
Germline

Chr16:172981

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125652

rs_63751457

4 SubmittersRCV000016977 RCV001002048 RCV001275678 RCV000759057

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

SNV
Germline

Chr16:173207

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125654

rs_41328049

3 SubmittersRCV000016978 RCV000016979 RCV002051788 RCV003736541

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

SNV
Germline

Chr16:173548

Pathogenic

HEMOGLOBIN PLASENCIA
Condition: not provided
alpha Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA125658

rs_41397847

4 SubmittersRCV000016981 RCV000985724 RCV001826473

NM_000558.5(HBA1):c.223G>C (p.Asp75His)

SNV
Germline

Chr16:177056

Conflicting classifications of pathogenicity

HEMOGLOBIN G (TAICHUNG)
HEMOGLOBIN Q (THAILAND)
HEMOGLOBIN Q
HEMOGLOBIN MAHIDOL
HEMOGLOBIN ASABARA
HEMOGLOBIN KURASHIKI
alpha Thalassemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA125737

rs_28928875

4 SubmittersRCV000017028 RCV000017030 RCV000017029 RCV000017031 RCV000017032 RCV000017033 RCV000417219 RCV000505861

NM_000558.5(HBA1):c.332C>A (p.Ala111Asp)

SNV
Germline

Chr16:177314

Likely pathogenic

HEMOGLOBIN PETAH TIKVA
Condition: not provided
Hemoglobin H disease
alpha Thalassemia
Heinz body anemia
Erythrocytosis, familial, 7
Methemoglobinemia, alpha type

Criteria Provided
Multiple Submitters
No Conflicts

CA125861

rs_63749948

3 SubmittersRCV000017140 RCV001811179 RCV002482880

NM_000558.3(HBA1):c.179G>A (p.Gly60Asp)

SNV
Germline

Chr16:177012

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA125949

rs_28928878

4 SubmittersRCV000022600 RCV000017194 RCV000756221 RCV001831580

NM_000558.3(HBA1):c.389T>C (p.Leu130Pro)

SNV
Germline

Chr16:177371

Likely pathogenic

HEMOGLOBIN TUNIS-BIZERTE
Condition: not provided
alpha Thalassemia

Criteria Provided
Single Submitter

CA125979

rs_35993655

3 SubmittersRCV000017211 RCV000756223 RCV001276182

NM_000489.6(ATRX):c.536A>G (p.Asn179Ser)

SNV
Germline

ChrX:77688876

Pathogenic/Likely pathogenic

Condition: not provided
Intellectual disability-hypotonic facies syndrome, X-linked, 1
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA220995

rs_398123425

6 SubmittersRCV000078965 RCV000850379 RCV001262503

NM_000489.6(ATRX):c.5787-20G>T

SNV
Germline

ChrX:77599600

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome
See cases

Criteria Provided
Conflicting Classifications

CA220999

rs_185359850

4 SubmittersRCV000078968 RCV002055104 RCV002251965

NM_000489.6(ATRX):c.5968T>A (p.Ser1990Thr)

SNV
Germline

ChrX:77593838

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA221002

rs_142180002

5 SubmittersRCV000710719 RCV001086632 RCV002514389

NM_000489.6(ATRX):c.1438A>G (p.Thr480Ala)

SNV
Germline

ChrX:77683818

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

CA230919

rs_587780284

4 SubmittersRCV000116460 RCV001274220

NM_000489.6(ATRX):c.3395T>C (p.Ile1132Thr)

SNV
Germline

ChrX:77681861

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome
ATRX-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA230921

rs_587780285

6 SubmittersRCV000116461 RCV001083597 RCV004542838 RCV002316296

NM_000489.6(ATRX):c.2806G>C (p.Val936Leu)

SNV
Germline

ChrX:77682450

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

CA230923

rs_149232501

3 SubmittersRCV000116466 RCV001088031

NM_000489.6(ATRX):c.189G>A (p.Glu63=)

SNV
Germline

ChrX:77698574

Conflicting classifications of pathogenicity

not specified
Alpha thalassemia-X-linked intellectual disability syndrome
ATRX-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA157213

rs_587778082

5 SubmittersRCV000120172 RCV000640834 RCV004529996 RCV002408624

NM_000489.6(ATRX):c.2513A>G (p.Lys838Arg)

SNV
Germline

ChrX:77682743

Conflicting classifications of pathogenicity

not specified
Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA157220

rs_587778085

3 SubmittersRCV000120176 RCV002515820 RCV003436932

NM_000489.6(ATRX):c.2761G>T (p.Val921Phe)

SNV
Germline

ChrX:77682495

Conflicting classifications of pathogenicity

not specified
Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA157238

rs_587778088

3 SubmittersRCV000120186 RCV002514622 RCV003436933

NM_000489.6(ATRX):c.3281G>A (p.Cys1094Tyr)

SNV
Germline

ChrX:77681975

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA233502

rs_146521598

4 SubmittersRCV000152816 RCV001079208 RCV002516068

NM_000489.6(ATRX):c.6753C>T (p.Tyr2251=)

SNV
Germline

ChrX:77523348

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

CA233498

rs_797044495

2 SubmittersRCV000152814 RCV003624404

NM_000489.6(ATRX):c.4120+4A>C

SNV
Germline

ChrX:77663378

Conflicting classifications of pathogenicity

not specified
Alpha thalassemia-X-linked intellectual disability syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA208162

rs_200420513

8 SubmittersRCV000194168 RCV001084811 RCV002321688 RCV000724115

NM_000489.6(ATRX):c.1868A>G (p.Lys623Arg)

SNV
Germline

ChrX:77683388

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

CA247990

rs_145678415

4 SubmittersRCV000180508 RCV000723983 RCV001085725

NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln)

SNV
Germline

ChrX:77682474

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Alpha thalassemia-X-linked intellectual disability syndrome
Acquired hemoglobin H disease
Intellectual disability-hypotonic facies syndrome, X-linked, 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA247992

rs_797044792

6 SubmittersRCV001241409 RCV002485181 RCV000180509 RCV002433783

NM_000489.6(ATRX):c.1273A>C (p.Lys425Gln)

SNV
Germline

ChrX:77683983

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome
ATRX-related disorder

Criteria Provided
Conflicting Classifications

CA247996

rs_782508808

3 SubmittersRCV000180511 RCV002517764 RCV004537510

NM_000489.6(ATRX):c.3091G>A (p.Gly1031Ser)

SNV
Germline

ChrX:77682165

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

CA247998

rs_782781078

5 SubmittersRCV000180512 RCV002517765 RCV000640830

NM_000489.6(ATRX):c.3065G>A (p.Arg1022Gln)

SNV
Germline

ChrX:77682191

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA248000

rs_781811015

4 SubmittersRCV000180513 RCV001510596 RCV002444721

NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val)

SNV
Germline

ChrX:77522367

Conflicting classifications of pathogenicity

not specified
Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA206445

rs_374244026

6 SubmittersRCV000193153 RCV000862246 RCV001701703

NM_000489.6(ATRX):c.2522T>C (p.Ile841Thr)

SNV
Germline

ChrX:77682734

Conflicting classifications of pathogenicity

not specified
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

CA209637

rs_797045405

2 SubmittersRCV000195062 RCV001852549

NM_000489.6(ATRX):c.1386T>C (p.Ala462=)

SNV
Germline

ChrX:77683870

Conflicting classifications of pathogenicity

not specified
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

CA206220

rs_367596462

2 SubmittersRCV000193007 RCV002054255

NM_000489.6(ATRX):c.7435A>G (p.Met2479Val)

SNV
Germline

ChrX:77508395

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

CA10457376

rs_200478641

3 SubmittersRCV000353527 RCV001087963

NM_000489.6(ATRX):c.3555G>C (p.Lys1185Asn)

SNV
Germline

ChrX:77681701

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10457937

rs_782696086

4 SubmittersRCV000344092 RCV001276394 RCV002311400

NM_000489.6(ATRX):c.1446A>G (p.Glu482=)

SNV
Germline

ChrX:77683810

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10603931

rs_886044778

3 SubmittersRCV000367387 RCV001396741 RCV003151005

NM_000489.6(ATRX):c.831C>T (p.Val277=)

SNV
Germline

ChrX:77684425

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

CA10458258

rs_142561199

4 SubmittersRCV000297998 RCV001084793

NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly)

SNV
Germline

ChrX:77656644

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome
Alpha thalassemia-X-linked intellectual disability syndrome
Intellectual disability-hypotonic facies syndrome, X-linked, 1
Inborn genetic diseases
Acquired hemoglobin H disease
Alpha thalassemia-X-linked intellectual disability syndrome
Intellectual disability-hypotonic facies syndrome, X-linked, 1

Criteria Provided
Conflicting Classifications

CA10457842

rs_782553301

8 SubmittersRCV000271653 RCV001510472 RCV002055056 RCV002317813 RCV003224252

NM_000489.6(ATRX):c.4224G>A (p.Lys1408=)

SNV
Germline

ChrX:77654191

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10457820

rs_781984385

4 SubmittersRCV001083048 RCV002328774 RCV000277044

NM_000489.6(ATRX):c.926A>G (p.Tyr309Cys)

SNV
Germline

ChrX:77684330

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

CA10458252

rs_782058125

2 SubmittersRCV000399565 RCV002059205

NM_000489.6(ATRX):c.2629G>A (p.Asp877Asn)

SNV
Germline

ChrX:77682627

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

CA10606603

rs_886044896

2 SubmittersRCV000259592 RCV001262505

NM_000489.6(ATRX):c.6532C>T (p.Arg2178Trp)

SNV
Germline

ChrX:77557618

Pathogenic/Likely pathogenic

Condition: not provided
Intellectual disability-hypotonic facies syndrome, X-linked, 1
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16043291

rs_1057517707

3 SubmittersRCV000414248 RCV001775115 RCV003512036

NM_000489.6(ATRX):c.6254G>A (p.Arg2085His)

SNV
Germline

ChrX:77574322

Pathogenic/Likely pathogenic

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome
Intellectual disability-hypotonic facies syndrome, X-linked, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16043310

rs_1057517948

6 SubmittersRCV000413472 RCV001197192 RCV002288984

NM_000489.6(ATRX):c.569C>T (p.Pro190Leu)

SNV
Germline

ChrX:77688843

Likely pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

No Assertion Criteria Provided

CA16043718

rs_1057518708

1 SubmittersRCV000415467

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

SNV
Germline

Chr16:173694

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16602272

rs_63751269

9 SubmittersRCV000417217 RCV001800666 RCV002502453 RCV003989109 RCV004017607

NM_000489.6(ATRX):c.4905G>T (p.Met1635Ile)

SNV
Germline

ChrX:77633617

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA16608591

rs_1045875195

3 SubmittersRCV000440472 RCV001511780 RCV002522405

NM_000489.6(ATRX):c.1478A>G (p.His493Arg)

SNV
Germline

ChrX:77683778

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

CA16608595

rs_947189709

3 SubmittersRCV000418029 RCV001861623

NM_000489.6(ATRX):c.2617G>C (p.Glu873Gln)

SNV
Germline

ChrX:77682639

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

CA16608942

rs_967071645

2 SubmittersRCV000440229 RCV002522442

NM_000489.6(ATRX):c.847G>A (p.Val283Ile)

SNV
Germline

ChrX:77684409

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

CA16608945

rs_1057522580

3 SubmittersRCV000419763 RCV001828419

NM_000489.6(ATRX):c.729C>G (p.Cys243Trp)

SNV
Germline

ChrX:77684527

Likely pathogenic

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16608993

rs_1057524153

2 SubmittersRCV000419781 RCV000990876

NM_000489.6(ATRX):c.631C>T (p.Arg211Cys)

SNV
Germline

ChrX:77684970

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

CA10458285

rs_782241890

3 SubmittersRCV000433610 RCV001833548

NM_000489.6(ATRX):c.2875G>T (p.Asp959Tyr)

SNV
Germline

ChrX:77682381

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA16609214

rs_1057523431

4 SubmittersRCV000417534 RCV000809360 RCV002522517 RCV003151056

NM_000489.6(ATRX):c.1033G>A (p.Ala345Thr)

SNV
Germline

ChrX:77684223

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10458243

rs_149249195

6 SubmittersRCV000726862 RCV001084389 RCV002392969

NM_000489.6(ATRX):c.6122G>A (p.Ser2041Asn)

SNV
Germline

ChrX:77589929

Pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

CA16609409

rs_1060499658

1 SubmittersRCV000449558

NM_000489.6(ATRX):c.1676C>T (p.Ser559Leu)

SNV
Germline

ChrX:77683580

Conflicting classifications of pathogenicity

Global developmental delay
Microcephaly
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

CA16609549

rs_1060499760

3 SubmittersRCV000454225 RCV001706638

NM_000489.6(ATRX):c.2150C>T (p.Pro717Leu)

SNV
Germline

ChrX:77683106

Conflicting classifications of pathogenicity

Intellectual disability-hypotonic facies syndrome, X-linked, 1
Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10458118

rs_372617572

4 SubmittersRCV000455887 RCV001211748 RCV001775797

NM_000489.6(ATRX):c.3224A>G (p.Asp1075Gly)

SNV
Germline

ChrX:77682032

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA16621506

rs_1064796745

4 SubmittersRCV000484537 RCV001834575 RCV002526967

NM_000489.6(ATRX):c.278A>T (p.Asp93Val)

SNV
Germline

ChrX:77696669

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

CA16621509

rs_1064796774

3 SubmittersRCV000479685 RCV001247873

NM_000489.6(ATRX):c.4865C>T (p.Ala1622Val)

SNV
Germline

ChrX:77633657

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA413704566

rs_1135401793

2 SubmittersRCV000496126 RCV003332185

NM_000489.6(ATRX):c.4035G>A (p.Leu1345=)

SNV
Germline

ChrX:77663467

Conflicting classifications of pathogenicity

not specified
Alpha thalassemia-X-linked intellectual disability syndrome
Inborn genetic diseases
ATRX-related disorder

Criteria Provided
Conflicting Classifications

CA331568072

rs_111725949

4 SubmittersRCV000499963 RCV001475959 RCV002316433 RCV004541554

NM_000489.6(ATRX):c.4031A>G (p.Lys1344Arg)

SNV
Germline

ChrX:77663471

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided
ATRX-related disorder

Criteria Provided
Conflicting Classifications

CA10457855

rs_782556767

5 SubmittersRCV000499926 RCV000624685 RCV000692943 RCV000833627 RCV004535587

NM_000489.6(ATRX):c.3513A>T (p.Arg1171Ser)

SNV
Germline

ChrX:77681743

Conflicting classifications of pathogenicity

not specified
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

CA413706324

rs_868995055

2 SubmittersRCV000501722 RCV001857076

NM_000489.6(ATRX):c.2484G>C (p.Met828Ile)

SNV
Germline

ChrX:77682772

Conflicting classifications of pathogenicity

not specified
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

CA10458079

rs_782705007

3 SubmittersRCV000503517 RCV000640828

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

SNV
Germline

Chr16:172957

Conflicting classifications of pathogenicity

Condition: not provided
alpha Thalassemia

Criteria Provided
Conflicting Classifications

CA276414368

rs_63750367

3 SubmittersRCV001810982 RCV001829444

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

SNV
Germline

Chr16:173008

Pathogenic

Condition: not provided
not specified
alpha Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA393993203

rs_63750158

3 SubmittersRCV000507864 RCV001000976 RCV001829445

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

SNV
Germline

Chr16:173208

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA276414731

rs_281864846

5 SubmittersRCV000507118 RCV001376060 RCV001678588 RCV003323574

NM_000558.5(HBA1):c.43T>C (p.Trp15Arg)

SNV
Germline

Chr16:176759

Pathogenic/Likely pathogenic

Condition: not provided
alpha Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

CA7770225

rs_33964317

4 SubmittersRCV000506883 RCV001078391

NM_000489.6(ATRX):c.6110+15A>G

SNV
Germline

ChrX:77593681

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

CA642694807

rs_1309299805

2 SubmittersRCV000514849 RCV002060207

NM_000489.6(ATRX):c.3527A>T (p.Lys1176Met)

SNV
Germline

ChrX:77681729

Conflicting classifications of pathogenicity

not specified
Alpha thalassemia-X-linked intellectual disability syndrome
Inborn genetic diseases
Developmental disorder
ATRX-related disorder

Criteria Provided
Conflicting Classifications

CA10457944

rs_191563592

6 SubmittersRCV000518691 RCV000866150 RCV002455990 RCV003126788 RCV004541602

NM_000489.6(ATRX):c.1345C>G (p.Pro449Ala)

SNV
Germline

ChrX:77683911

Conflicting classifications of pathogenicity

not specified
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

CA413718443

rs_1557141862

2 SubmittersRCV000517779 RCV001851425

NM_000489.6(ATRX):c.3211G>A (p.Gly1071Arg)

SNV
Germline

ChrX:77682045

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Acquired hemoglobin H disease
Alpha thalassemia-X-linked intellectual disability syndrome
Intellectual disability-hypotonic facies syndrome, X-linked, 1
Inborn genetic diseases
ATRX-related disorder

Criteria Provided
Conflicting Classifications

CA10457983

rs_143621153

4 SubmittersRCV000535770 RCV000764880 RCV002316547 RCV004541698

NM_000489.6(ATRX):c.2696C>T (p.Thr899Met)

SNV
Germline

ChrX:77682560

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10458043

rs_782757975

3 SubmittersRCV000533069 RCV002438372

NM_000489.6(ATRX):c.4249C>T (p.Arg1417Trp)

SNV
Germline

ChrX:77654166

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

CA413709531

rs_1557118764

2 SubmittersRCV000585485 RCV001416239

NM_000489.6(ATRX):c.1439C>T (p.Thr480Ile)

SNV
Germline

ChrX:77683817

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

CA10458200

rs_782751824

2 SubmittersRCV000584953 RCV001517957

NM_000489.6(ATRX):c.7201-4A>G

SNV
Germline

ChrX:77508633

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome
Intellectual disability-hypotonic facies syndrome, X-linked, 1
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

CA10457403

rs_782317502

4 SubmittersRCV000592827 RCV001086132 RCV002275064

NM_000489.6(ATRX):c.7432C>G (p.Pro2478Ala)

SNV
Germline

ChrX:77508398

Conflicting classifications of pathogenicity

Inborn genetic diseases
Alpha thalassemia-X-linked intellectual disability syndrome
Acquired hemoglobin H disease
Alpha thalassemia-X-linked intellectual disability syndrome
Intellectual disability-hypotonic facies syndrome, X-linked, 1

Criteria Provided
Conflicting Classifications

CA10457377

rs_199543136

3 SubmittersRCV000623175 RCV000976466 RCV000766105

NM_000489.6(ATRX):c.6887A>G (p.Asn2296Ser)

SNV
Germline

ChrX:77522351

Conflicting classifications of pathogenicity

Inborn genetic diseases
Intellectual disability-hypotonic facies syndrome, X-linked, 1
Acquired hemoglobin H disease
Alpha thalassemia-X-linked intellectual disability syndrome
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

CA10457446

rs_782274478

3 SubmittersRCV000623676 RCV000764878 RCV001438668

NM_000489.6(ATRX):c.5271G>C (p.Glu1757Asp)

SNV
Germline

ChrX:77620396

Conflicting classifications of pathogenicity

Inborn genetic diseases
not specified
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

CA413701291

rs_141240580

3 SubmittersRCV000623581 RCV001201290 RCV001855297

NM_000489.6(ATRX):c.3913A>C (p.Lys1305Gln)

SNV
Germline

ChrX:77664675

Conflicting classifications of pathogenicity

Inborn genetic diseases
Alpha thalassemia-X-linked intellectual disability syndrome
Intellectual disability-hypotonic facies syndrome, X-linked, 1

Criteria Provided
Conflicting Classifications

CA10457874

rs_782708557

4 SubmittersRCV000622873 RCV000863037 RCV001449593

NM_000489.6(ATRX):c.913A>G (p.Ser305Gly)

SNV
Germline

ChrX:77684343

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10458254

rs_782778928

2 SubmittersRCV000640856 RCV002529994

NM_000489.6(ATRX):c.4210A>G (p.Thr1404Ala)

SNV
Germline

ChrX:77656564

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Inborn genetic diseases
ATRX-related disorder

Criteria Provided
Conflicting Classifications

CA10457838

rs_781835568

4 SubmittersRCV000640833 RCV002331172 RCV004533350

NM_000489.6(ATRX):c.5039T>C (p.Ile1680Thr)

SNV
Germline

ChrX:77633302

Pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

rs_1557106482

1 SubmittersRCV000659282

NM_000489.6(ATRX):c.7192C>T (p.Gln2398Ter)

SNV
Unknown

ChrX:77520796

Likely pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

rs_1569515457

1 SubmittersRCV000678967

NM_000489.6(ATRX):c.4317G>A (p.Lys1439=)

SNV
Germline

ChrX:77654098

Pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

rs_1569535642

1 SubmittersRCV000679879

NM_000489.6(ATRX):c.3538A>G (p.Ile1180Val)

SNV
Germline

ChrX:77681718

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782554626

3 SubmittersRCV000692042 RCV003144514

NM_000489.6(ATRX):c.4004G>T (p.Arg1335Ile)

SNV
Germline

ChrX:77663498

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Acquired hemoglobin H disease
Alpha thalassemia-X-linked intellectual disability syndrome
Intellectual disability-hypotonic facies syndrome, X-linked, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1569536694

3 SubmittersRCV000692936 RCV000764879 RCV003442025

NM_000489.6(ATRX):c.2615A>T (p.Gln872Leu)

SNV
Germline

ChrX:77682641

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782162927

2 SubmittersRCV000703858 RCV004026645

NM_000489.6(ATRX):c.4073C>T (p.Thr1358Ile)

SNV
Germline

ChrX:77663429

Conflicting classifications of pathogenicity

Inborn genetic diseases
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

rs_1557124033

2 SubmittersRCV002312272 RCV002532985

NM_000489.6(ATRX):c.4810-3T>C

SNV
Germline

ChrX:77633715

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_370596323

3 SubmittersRCV000730810 RCV001080925 RCV002315420

NM_000489.6(ATRX):c.1346C>G (p.Pro449Arg)

SNV
Germline

ChrX:77683910

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782163488

3 SubmittersRCV001830590 RCV002314580

NM_000489.6(ATRX):c.3152A>G (p.Asp1051Gly)

SNV
Germline

ChrX:77682104

Conflicting classifications of pathogenicity

Inborn genetic diseases
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

rs_1557138081

2 SubmittersRCV002312276 RCV002534530

NM_000489.6(ATRX):c.1168C>T (p.Arg390Cys)

SNV
Germline

ChrX:77684088

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Inborn genetic diseases
Condition: not provided
ATRX-related disorder

Criteria Provided
Conflicting Classifications

rs_150484080

4 SubmittersRCV000875902 RCV002317949 RCV003228984 RCV004535789

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

SNV
Germline

Chr16:172987

Pathogenic

alpha Thalassemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_281864550

3 SubmittersRCV001275679 RCV001800864

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

SNV
Germline

Chr16:173127

Conflicting classifications of pathogenicity

Condition: not provided
not specified
alpha Thalassemia

Criteria Provided
Conflicting Classifications

rs_1468615416

3 SubmittersRCV000756228 RCV001000071 RCV003323709

NM_000489.6(ATRX):c.2890A>G (p.Ile964Val)

SNV
Germline

ChrX:77682366

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1271635013

3 SubmittersRCV000823319 RCV003169051

NM_000489.6(ATRX):c.1645A>G (p.Ser549Gly)

SNV
Germline

ChrX:77683611

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_148513102

3 SubmittersRCV000809640 RCV001266043

NM_000489.6(ATRX):c.1130C>T (p.Ala377Val)

SNV
Germline

ChrX:77684126

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_781955237

3 SubmittersRCV000810993 RCV001776024

NM_000489.6(ATRX):c.737G>T (p.Arg246Leu)

SNV
Germline

ChrX:77684519

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1603226766

2 SubmittersRCV000808033 RCV002381785

NM_000489.6(ATRX):c.16A>G (p.Met6Val)

SNV
Germline

ChrX:77785986

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782080475

3 SubmittersRCV000801601 RCV001566085

NM_000489.6(ATRX):c.5048A>G (p.Tyr1683Cys)

SNV
Germline

ChrX:77633293

Likely pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

rs_1602979414

1 SubmittersRCV000853395

NM_000489.6(ATRX):c.4558-3T>G

SNV
Unknown

ChrX:77636059

Pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

rs_1602996115

1 SubmittersRCV000856787

NM_000489.6(ATRX):c.1974T>G (p.Arg658=)

SNV
Germline

ChrX:77683282

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Intellectual disability-hypotonic facies syndrome, X-linked, 1

Criteria Provided
Conflicting Classifications

rs_1603222314

2 SubmittersRCV000866682 RCV002227500

NM_000489.6(ATRX):c.1606A>G (p.Met536Val)

SNV
Germline

ChrX:77683650

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_781865069

4 SubmittersRCV000868113 RCV001796287 RCV001816982 RCV004027713

NM_000558.5(HBA1):c.96-1G>A

SNV
Germline

Chr16:176928

Pathogenic/Likely pathogenic

Condition: not provided
alpha Thalassemia
Heinz body anemia
Methemoglobinemia, alpha type
Erythrocytosis, familial, 7
Hemoglobin H disease
alpha Thalassemia
HBA1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_34883113

5 SubmittersRCV000985716 RCV002466598 RCV002503142 RCV003918611

NM_000489.6(ATRX):c.6104A>G (p.Asp2035Gly)

SNV
Unknown

ChrX:77593702

Likely pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

rs_122445096

1 SubmittersRCV000990873

NM_000489.6(ATRX):c.5405A>C (p.Lys1802Thr)

SNV
Unknown

ChrX:77618849

Likely pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

rs_1602876401

1 SubmittersRCV000990874

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

SNV
Germline

Chr16:173484

Pathogenic

alpha Thalassemia

Criteria Provided
Single Submitter

rs_1263969213

1 SubmittersRCV000991152

NM_000489.6(ATRX):c.4957-4A>G

SNV
Germline

ChrX:77633388

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

rs_1602979818

3 SubmittersRCV000995969 RCV001253370

NM_000489.6(ATRX):c.3701T>G (p.Val1234Gly)

SNV
Germline

ChrX:77681555

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

rs_782816523

2 SubmittersRCV000995971 RCV001869392

NM_000558.5(HBA1):c.358C>T (p.Pro120Ser)

SNV
Germline

Chr16:177340

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_63750751

7 SubmittersRCV001027960 RCV001283983 RCV002489508

NM_000489.6(ATRX):c.3437C>A (p.Thr1146Asn)

SNV
Germline

ChrX:77681819

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_368828845

2 SubmittersRCV001059008 RCV003490045

NM_000489.6(ATRX):c.2348G>C (p.Ser783Thr)

SNV
Germline

ChrX:77682908

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_782530243

3 SubmittersRCV001039255 RCV002239292

NM_000489.6(ATRX):c.1727C>A (p.Ser576Ter)

SNV
Germline

ChrX:77683529

Pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2071372283

2 SubmittersRCV001039588 RCV001268111

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

SNV
Germline

Chr16:173548

Pathogenic

alpha Thalassemia

No Assertion Criteria Provided

rs_41397847

1 SubmittersRCV001078247

NM_000558.5(HBA1):c.2T>G (p.Met1Arg)

SNV
Unknown

Chr16:176718

Pathogenic

alpha Thalassemia

Criteria Provided
Single Submitter

rs_1316527998

1 SubmittersRCV001169875

NM_000489.6(ATRX):c.1212G>C (p.Lys404Asn)

SNV
Germline

ChrX:77684044

Conflicting classifications of pathogenicity

not specified
Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2071413817

4 SubmittersRCV001175581 RCV001345479 RCV001562548

NM_000489.6(ATRX):c.1253G>A (p.Arg418Gln)

SNV
Germline

ChrX:77684003

Conflicting classifications of pathogenicity

not specified
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

rs_1557142053

2 SubmittersRCV001193049 RCV003512108

NM_000489.6(ATRX):c.3285G>T (p.Lys1095Asn)

SNV
Germline

ChrX:77681971

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Alpha thalassemia-X-linked intellectual disability syndrome
Intellectual disability-hypotonic facies syndrome, X-linked, 1

Criteria Provided
Conflicting Classifications

rs_1308342676

3 SubmittersRCV001224371 RCV002265962

NM_000489.6(ATRX):c.3270G>C (p.Glu1090Asp)

SNV
Germline

ChrX:77681986

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_781992894

2 SubmittersRCV001219155 RCV001587239

NM_000489.6(ATRX):c.7141G>T (p.Glu2381Ter)

SNV
Germline

ChrX:77520847

Pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

rs_1557041077

1 SubmittersRCV001227108

NM_000489.6(ATRX):c.4069A>T (p.Lys1357Ter)

SNV
Germline

ChrX:77663433

Pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

rs_2070037318

1 SubmittersRCV001235205

NM_000489.6(ATRX):c.35A>G (p.Asn12Ser)

SNV
Germline

ChrX:77717229

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782399326

2 SubmittersRCV001239681 RCV002563952

NM_000489.6(ATRX):c.1727C>G (p.Ser576Ter)

SNV
Germline

ChrX:77683529

Pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

rs_2071372283

1 SubmittersRCV001253201

NM_000489.6(ATRX):c.77C>A (p.Ser26Ter)

SNV
Germline

ChrX:77717187

Likely pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

rs_2073481839

1 SubmittersRCV001255468

NM_000489.6(ATRX):c.1648A>G (p.Ser550Gly)

SNV
Germline

ChrX:77683608

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201284965

3 SubmittersRCV001262504 RCV002393675

NM_000489.6(ATRX):c.7439G>A (p.Arg2480Lys)

SNV
Germline

ChrX:77508391

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_369871569

3 SubmittersRCV001279979 RCV001776168

NM_000558.5(HBA1):c.178G>C (p.Gly60Arg)

SNV
Germline

Chr16:177011

Pathogenic

Condition: not provided
alpha Thalassemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_281864895

2 SubmittersRCV001283978 RCV003331101

NM_000489.6(ATRX):c.6618A>G (p.Glu2206=)

SNV
Germline

ChrX:77557532

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

rs_2064850147

3 SubmittersRCV001288808 RCV001436639

NM_000489.6(ATRX):c.2815G>C (p.Val939Leu)

SNV
Germline

ChrX:77682441

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided
Alpha thalassemia X-linked intellectual disability (ATRX) syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_149195735

5 SubmittersRCV001301952 RCV001776180 RCV002466656 RCV003284152

NM_000489.6(ATRX):c.2787G>C (p.Glu929Asp)

SNV
Germline

ChrX:77682469

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Intellectual disability-hypotonic facies syndrome, X-linked, 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782283059

5 SubmittersRCV001303921 RCV001779152 RCV002437030

NM_000489.6(ATRX):c.4201C>T (p.Arg1401Trp)

SNV
Germline

ChrX:77656573

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1557119999

4 SubmittersRCV001326067 RCV001806125

NM_000489.6(ATRX):c.2953A>G (p.Ser985Gly)

SNV
Germline

ChrX:77682303

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782424160

2 SubmittersRCV001321060 RCV001776195

NM_000489.6(ATRX):c.5449-7A>G

SNV
Germline

ChrX:77616737

Likely pathogenic

Intellectual disability-hypotonic facies syndrome, X-linked, 1
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2067371776

2 SubmittersRCV001329934 RCV001598686

NM_000489.6(ATRX):c.2329G>C (p.Gly777Arg)

SNV
Germline

ChrX:77682927

Conflicting classifications of pathogenicity

Intellectual disability-hypotonic facies syndrome, X-linked, 1
Inborn genetic diseases
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

rs_1411348345

3 SubmittersRCV001329931 RCV002546364 RCV002546363

NM_000489.6(ATRX):c.2777G>A (p.Gly926Glu)

SNV
Germline

ChrX:77682479

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2071271385

2 SubmittersRCV001344013 RCV001546689

NM_000489.6(ATRX):c.485-1G>A

SNV
Germline

ChrX:77688928

Likely pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

rs_2148657465

1 SubmittersRCV001379146

NM_000489.6(ATRX):c.1960C>T (p.Arg654Ter)

SNV
Germline

ChrX:77683296

Pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

rs_1557140492

1 SubmittersRCV001387072

NM_000489.6(ATRX):c.3067G>C (p.Glu1023Gln)

SNV
Germline

ChrX:77682189

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_367700285

4 SubmittersRCV001408998 RCV001573254 RCV002553438

NM_000489.6(ATRX):c.2907A>C (p.Leu969=)

SNV
Germline

ChrX:77682349

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782330959

2 SubmittersRCV001447795 RCV003145664

NM_000489.6(ATRX):c.1262A>G (p.Asp421Gly)

SNV
Germline

ChrX:77683994

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782817063

2 SubmittersRCV001449124 RCV003145665

NM_000489.6(ATRX):c.3737-8C>T

SNV
Germline

ChrX:77676306

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_2070862607

2 SubmittersRCV001461003 RCV003490255

NM_000489.6(ATRX):c.3387G>A (p.Leu1129=)

SNV
Germline

ChrX:77681869

Conflicting classifications of pathogenicity

Intellectual disability-hypotonic facies syndrome, X-linked, 1
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

rs_3761507

3 SubmittersRCV001559292 RCV001451394

NM_000489.6(ATRX):c.2692G>C (p.Asp898His)

SNV
Germline

ChrX:77682564

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_781903868

3 SubmittersRCV001474706 RCV001751770 RCV001820171

NM_000489.6(ATRX):c.1246G>A (p.Glu416Lys)

SNV
Germline

ChrX:77684010

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782253905

2 SubmittersRCV001475917 RCV002396130

NM_000489.6(ATRX):c.485-7C>G

SNV
Germline

ChrX:77688934

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1225852818

2 SubmittersRCV001467941 RCV002254966

NM_000489.6(ATRX):c.6207T>C (p.Leu2069=)

SNV
Germline

ChrX:77589844

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_369953134

2 SubmittersRCV001485124 RCV003238373

NM_000489.6(ATRX):c.4048G>A (p.Gly1350Arg)

SNV
Germline

ChrX:77663454

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_782726588

2 SubmittersRCV001490449 RCV004526126

NM_000489.6(ATRX):c.2573A>G (p.Lys858Arg)

SNV
Germline

ChrX:77682683

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Inborn genetic diseases
ATRX-related disorder

Criteria Provided
Conflicting Classifications

rs_782593341

3 SubmittersRCV001523090 RCV004037958 RCV004533948

NM_000489.6(ATRX):c.5540A>G (p.Tyr1847Cys)

SNV
Germline

ChrX:77616639

Likely pathogenic

Neonatal hypotonia
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1057521987

2 SubmittersRCV001526627 RCV001882566

NM_000489.6(ATRX):c.3848A>G (p.Asn1283Ser)

SNV
Germline

ChrX:77664740

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

rs_201588422

3 SubmittersRCV001531792 RCV002568900

NM_000489.6(ATRX):c.6253C>T (p.Arg2085Cys)

SNV
Germline

ChrX:77574323

Pathogenic/Likely pathogenic

Condition: not provided
Abnormality of the nervous system
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2148019913

3 SubmittersRCV001557178 RCV001814494 RCV001824991

NM_000489.6(ATRX):c.2312C>T (p.Ala771Val)

SNV
Germline

ChrX:77682944

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_376906761

4 SubmittersRCV001553088 RCV001827461 RCV002449365

NM_000489.6(ATRX):c.5222G>A (p.Arg1741Lys)

SNV
Germline

ChrX:77620445

Conflicting classifications of pathogenicity

Condition: not provided
ATRX-related disorder
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

rs_1448764008

3 SubmittersRCV001555452 RCV001824995 RCV002032607

NM_000489.6(ATRX):c.3933A>G (p.Pro1311=)

SNV
Germline

ChrX:77664655

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

rs_2148496532

2 SubmittersRCV001768231 RCV002074038

NM_000489.6(ATRX):c.6235C>T (p.Arg2079Ter)

SNV
Germline/somatic

ChrX:77574341

Pathogenic

Adrenal cortex carcinoma
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

rs_2148020083

2 SubmittersRCV001815150 RCV003624466

NM_000489.6(ATRX):c.3452G>C (p.Ser1151Thr)

SNV
Germline

ChrX:77681804

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Intellectual disability-hypotonic facies syndrome, X-linked, 1
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

rs_782073135

2 SubmittersRCV001839259 RCV003624468

NM_000489.6(ATRX):c.3422G>A (p.Ser1141Asn)

SNV
Germline

ChrX:77681834

Conflicting classifications of pathogenicity

Intellectual disability-hypotonic facies syndrome, X-linked, 1
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

rs_782785569

2 SubmittersRCV001839479 RCV003624469

NM_000489.6(ATRX):c.3649G>C (p.Gly1217Arg)

SNV
Germline

ChrX:77681607

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_781917332

2 SubmittersRCV001975353 RCV003227053

NM_000489.6(ATRX):c.6743T>C (p.Ile2248Thr)

SNV
Germline

ChrX:77523358

Likely pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

rs_2147761759

1 SubmittersRCV002037060

NM_000489.6(ATRX):c.5542C>G (p.Gln1848Glu)

SNV
Germline

ChrX:77616637

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1557096992

2 SubmittersRCV002030400 RCV003170385

NM_000489.6(ATRX):c.4317+8T>C

SNV
Germline

ChrX:77654090

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2069418640

2 SubmittersRCV002208426 RCV003146521

NM_000489.6(ATRX):c.2744G>C (p.Ser915Thr)

SNV
Germline

ChrX:77682512

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782427910

3 SubmittersRCV002211960 RCV002261449 RCV004045592

NM_000489.6(ATRX):c.5927A>G (p.Asn1976Ser)

SNV
Germline

ChrX:77599440

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782151425

2 SubmittersRCV002111508 RCV003025378

NM_000489.6(ATRX):c.565C>T (p.His189Tyr)

SNV
Unknown

ChrX:77688847

Likely pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

rs_2148656473

1 SubmittersRCV002226570

NM_000489.6(ATRX):c.2422C>T (p.Arg808Ter)

SNV
Germline

ChrX:77682834

Likely pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

rs_891068548

1 SubmittersRCV002238573

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

SNV
Unknown

Chr16:172958

Likely pathogenic

alpha Thalassemia

No Assertion Criteria Provided

rs_281864811

1 SubmittersRCV002243538

NM_000489.6(ATRX):c.5786A>G (p.Lys1929Arg)

SNV
Germline

ChrX:77599732

Conflicting classifications of pathogenicity

not specified
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

rs_1569528833

2 SubmittersRCV002271738 RCV003096108

NM_000489.6(ATRX):c.1894G>A (p.Glu632Lys)

SNV
Germline

ChrX:77683362

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

rs_1557140572

2 SubmittersRCV002275833 RCV003774881

NM_000489.6(ATRX):c.5368G>A (p.Ala1790Thr)

SNV
Germline

ChrX:77618886

Likely pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002299866

NM_000489.6(ATRX):c.4214+19A>T

SNV
Germline

ChrX:77656541

Conflicting classifications of pathogenicity

Inborn genetic diseases
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002327980 RCV003512152

NM_000489.6(ATRX):c.3278G>T (p.Arg1093Met)

SNV
Germline

ChrX:77681978

Conflicting classifications of pathogenicity

Inborn genetic diseases
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002325041 RCV003624476

NM_000489.6(ATRX):c.4035G>C (p.Leu1345Phe)

SNV
Germline

ChrX:77663467

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003060977 RCV003317644

NM_000489.6(ATRX):c.3196A>G (p.Lys1066Glu)

SNV
Germline

ChrX:77682060

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Intellectual disability-hypotonic facies syndrome, X-linked, 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003080289 RCV003147820

NM_000489.6(ATRX):c.3122A>T (p.Asp1041Val)

SNV
Germline

ChrX:77682134

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002629852 RCV003229937

NM_000489.6(ATRX):c.1865C>T (p.Pro622Leu)

SNV
Germline

ChrX:77683391

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002846863 RCV003225244

NM_000489.6(ATRX):c.2124A>G (p.Ile708Met)

SNV
Germline

ChrX:77683132

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
ATRX-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002982981 RCV004529184

NM_000489.6(ATRX):c.344A>T (p.Asp115Val)

SNV
Germline

ChrX:77696603

Conflicting classifications of pathogenicity

Inborn genetic diseases
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002940573 RCV003512190

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

SNV
Unknown

Chr16:172985

Pathogenic

alpha Thalassemia

No Assertion Criteria Provided

rs_281864821

1 SubmittersRCV003110192

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

SNV
Germline

Chr16:173330

Likely pathogenic

Condition: not provided
alpha Thalassemia

Criteria Provided
Single Submitter

2 SubmittersRCV003120280 RCV003984350

NM_000489.6(ATRX):c.1396A>T (p.Arg466Ter)

SNV
Germline

ChrX:77683860

Likely pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003123392

NM_000489.6(ATRX):c.758T>C (p.Leu253Ser)

SNV
Unknown

ChrX:77684498

Likely pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome
Intellectual disability-hypotonic facies syndrome, X-linked, 1

Criteria Provided
Single Submitter

1 SubmittersRCV003148562 RCV003148563

NM_000558.5(HBA1):c.2T>A (p.Met1Lys)

SNV
Germline

Chr16:176718

Likely pathogenic

alpha Thalassemia

Criteria Provided
Single Submitter

1 SubmittersRCV003317778

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

SNV
Unknown

Chr16:173491

Pathogenic

alpha Thalassemia

No Assertion Criteria Provided

1 SubmittersRCV004548630

NM_000489.6(ATRX):c.4825C>T (p.His1609Tyr)

SNV
Germline

ChrX:77633697

Likely pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003397224

NM_000489.6(ATRX):c.5557C>T (p.His1853Tyr)

SNV
Germline

ChrX:77616622

Conflicting classifications of pathogenicity

Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003439686 RCV003512226

NM_000489.6(ATRX):c.6793G>A (p.Glu2265Lys)

SNV
Germline

ChrX:77523308

Likely pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003444076

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

SNV
Germline

Chr16:173560

Pathogenic

alpha Thalassemia

Criteria Provided
Single Submitter

1 SubmittersRCV003486522

NM_000489.6(ATRX):c.3064C>T (p.Arg1022Ter)

SNV
Germline

ChrX:77682192

Pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003512412

NM_000489.6(ATRX):c.1252C>T (p.Arg418Ter)

SNV
Germline

ChrX:77684004

Pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003513324

NM_000489.6(ATRX):c.2711T>A (p.Leu904Ter)

SNV
Germline

ChrX:77682545

Pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003511802

NM_000478.6(ALPL):c.659G>A (p.Gly220Glu)

SNV
Germline

Chr1:21568114

Likely pathogenic

Condition: not provided
Hypophosphatasia
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003567461 RCV004526999 RCV004540724

NM_000489.6(ATRX):c.6331C>T (p.Arg2111Ter)

SNV
Germline

ChrX:77558842

Pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003624849

NM_000489.6(ATRX):c.485-2A>T

SNV
Germline

ChrX:77688929

Likely pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003625625

NM_000489.6(ATRX):c.4981C>T (p.Arg1661Cys)

SNV
Unknown

ChrX:77633360

Likely pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003988713

NM_000558.5(HBA1):c.99G>A (p.Met33Ile)

SNV
Germline

Chr16:176932

Likely pathogenic

alpha Thalassemia

Criteria Provided
Single Submitter

1 SubmittersRCV004018219

NM_000558.5(HBA1):c.44G>A (p.Trp15Ter)

SNV
Germline

Chr16:176760

Pathogenic

alpha Thalassemia

Criteria Provided
Single Submitter

1 SubmittersRCV004018220

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

SNV
Germline

Chr16:172914

Likely pathogenic

alpha Thalassemia

Criteria Provided
Single Submitter

1 SubmittersRCV004018237