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 Condition: not provided Intellectual disability-hypotonic facies syndrome, X-linked, 1 ATRX-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA256034	rs_122445099	8 SubmittersRCV000012494 RCV000723525 RCV002283442 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	CA2573159532	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 Alpha thalassemia-X-linked intellectual disability syndrome 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	5 SubmittersRCV000012497 RCV000199096 RCV005606633 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	CA413720749	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 Intellectual disability-hypotonic facies syndrome, X-linked, 1 Alpha thalassemia-X-linked intellectual disability syndrome Acquired hemoglobin H disease Intellectual disability-hypotonic facies syndrome, X-linked, 1 Renier-Gabreels-Jasper syndrome	Criteria Provided Multiple Submitters No Conflicts	CA204872	rs_122445105	19 SubmittersRCV000012501 RCV000078972 RCV000190796 RCV000763634 RCV001252427 RCV001249275
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 ATRX-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA256049	rs_122445106	4 SubmittersRCV000012505 RCV003128081 RCV004734510 RCV005416320
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 Intellectual disability-hypotonic facies syndrome, X-linked, 1 Alpha thalassemia-X-linked intellectual disability syndrome Acquired hemoglobin H disease	Criteria Provided Multiple Submitters No Conflicts	CA121653	rs_122445108	14 SubmittersRCV000012508 RCV000148028 RCV000224314 RCV000680146 RCV002444427 RCV003151722 RCV004795394
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_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	Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA221002	rs_142180002	5 SubmittersRCV001086632 RCV002514389 RCV000710719
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 Inborn genetic diseases ATRX-related disorder	Criteria Provided Conflicting Classifications	CA230921	rs_587780285	6 SubmittersRCV000116461 RCV001083597 RCV002316296 RCV004542838
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 Inborn genetic diseases ATRX-related disorder	Criteria Provided Conflicting Classifications	CA157213	rs_587778082	5 SubmittersRCV000120172 RCV000640834 RCV002408624 RCV004529996
NM_000489.6(ATRX):c.2513A>G (p.Lys838Arg)	SNV Germline	ChrX:77682743	Conflicting classifications of pathogenicity	not specified Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA157220	rs_587778085	4 SubmittersRCV000120176 RCV003436932 RCV002515820 RCV004678614
NM_000489.6(ATRX):c.2761G>T (p.Val921Phe)	SNV Germline	ChrX:77682495	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA157238	rs_587778088	4 SubmittersRCV000120186 RCV004678615 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.2102G>A (p.Arg701His)	SNV Germline	ChrX:77683154	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA236355	rs_797044563	2 SubmittersRCV000171440 RCV005089859
NM_000489.6(ATRX):c.4120+4A>C	SNV Germline	ChrX:77663378	Conflicting classifications of pathogenicity	not specified Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA208162	rs_200420513	8 SubmittersRCV000194168 RCV000724115 RCV001084811 RCV002321688
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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA247990	rs_145678415	5 SubmittersRCV000180508 RCV000723983 RCV001085725 RCV004965302
NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln)	SNV Germline	ChrX:77682474	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 Acquired hemoglobin H disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA247992	rs_797044792	6 SubmittersRCV000180509 RCV001241409 RCV002485181 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 Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases Intellectual disability	Criteria Provided Conflicting Classifications	CA247998	rs_782781078	6 SubmittersRCV000180512 RCV000640830 RCV002517765 RCV005625390
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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA209637	rs_797045405	3 SubmittersRCV000195062 RCV001852549 RCV005298458
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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10457376	rs_200478641	4 SubmittersRCV000353527 RCV001087963 RCV004965364
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 Intellectual disability-hypotonic facies syndrome, X-linked, 1 Alpha thalassemia-X-linked intellectual disability syndrome Intellectual disability-hypotonic facies syndrome, X-linked, 1 Alpha thalassemia-X-linked intellectual disability syndrome Acquired hemoglobin H disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10457842	rs_782553301	8 SubmittersRCV000271653 RCV001510472 RCV002055056 RCV003224252 RCV002317813
NM_000489.6(ATRX):c.4224G>A (p.Lys1408=)	SNV Germline	ChrX:77654191	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10457820	rs_781984385	4 SubmittersRCV000277044 RCV001083048 RCV002328774
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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10606603	rs_886044896	3 SubmittersRCV000259592 RCV001262505 RCV004965378
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	5 SubmittersRCV000414248 RCV001775115 RCV003512036
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His)	SNV Germline	ChrX:77574322	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	CA16043310	rs_1057517948	6 SubmittersRCV000413472 RCV002288984 RCV001197192
NM_000489.6(ATRX):c.569C>T (p.Pro190Leu)	SNV Germline	ChrX:77688843	Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Single Submitter	CA16043718	rs_1057518708	2 SubmittersRCV000415467 RCV004822044
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 Inborn genetic diseases Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA16608595	rs_947189709	4 SubmittersRCV000418029 RCV005298487 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	3 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	3 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 not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA16609214	rs_1057523431	4 SubmittersRCV000417534 RCV000809360 RCV003151056 RCV002522517
NM_000489.6(ATRX):c.1033G>A (p.Ala345Thr)	SNV Germline	ChrX:77684223	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10458243	rs_149249195	6 SubmittersRCV001084389 RCV000726862 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	Microcephaly Global developmental delay 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 Intellectual disability-hypotonic facies syndrome, X-linked, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA413704566	rs_1135401793	4 SubmittersRCV000496126 RCV005410904 RCV003332185
NM_000489.6(ATRX):c.4035G>A (p.Leu1345=)	SNV Germline	ChrX:77663467	Conflicting classifications of pathogenicity	not specified Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases ATRX-related disorder	Criteria Provided Conflicting Classifications	CA331568072	rs_111725949	5 SubmittersRCV000499963 RCV004808735 RCV001475959 RCV002316433 RCV004541554
NM_000489.6(ATRX):c.4031A>G (p.Lys1344Arg)	SNV Germline	ChrX:77663471	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases Alpha thalassemia-X-linked intellectual disability syndrome ATRX-related disorder	Criteria Provided Conflicting Classifications	CA10457855	rs_782556767	5 SubmittersRCV000499926 RCV000833627 RCV000624685 RCV000692943 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_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.2105A>G (p.Asn702Ser)	SNV Germline	ChrX:77683151	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10458130	rs_782409603	3 SubmittersRCV000554376 RCV005298519
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 Alpha thalassemia-X-linked intellectual disability syndrome Intellectual disability-hypotonic facies syndrome, X-linked, 1	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 Acquired hemoglobin H disease Intellectual disability-hypotonic facies syndrome, X-linked, 1 Alpha thalassemia-X-linked intellectual disability syndrome Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA10457377	rs_199543136	3 SubmittersRCV000623175 RCV000766105 RCV000976466
NM_000489.6(ATRX):c.6887A>G (p.Asn2296Ser)	SNV Germline	ChrX:77522351	Conflicting classifications of pathogenicity	Inborn genetic diseases Acquired hemoglobin H disease Intellectual disability-hypotonic facies syndrome, X-linked, 1 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 Alpha thalassemia-X-linked intellectual disability syndrome not specified	Criteria Provided Conflicting Classifications	CA413701291	rs_141240580	3 SubmittersRCV000623581 RCV001855297 RCV001201290
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	CA413703513	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	CA413706947	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	CA517376130	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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10457941	rs_782554626	4 SubmittersRCV000692042 RCV003144514 RCV004965674
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	CA413699660	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	CA10458056	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	CA413699501	rs_1557124033	2 SubmittersRCV002312272 RCV002532985
NM_000489.6(ATRX):c.4810-3T>C	SNV Germline	ChrX:77633715	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10457740	rs_370596323	3 SubmittersRCV001080925 RCV000730810 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	CA10458214	rs_782163488	3 SubmittersRCV001830590 RCV002314580
NM_000489.6(ATRX):c.3152A>G (p.Asp1051Gly)	SNV Germline	ChrX:77682104	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA413707602	rs_1557138081	2 SubmittersRCV002534530 RCV002312276
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 ATR-X-related syndrome	Criteria Provided Conflicting Classifications	CA10458228	rs_150484080	5 SubmittersRCV000875902 RCV002317949 RCV003228984 RCV004535789 RCV005357964
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	CA413709910	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	CA10458175	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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10458231	rs_781955237	4 SubmittersRCV000810993 RCV001776024 RCV004962834
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	CA413720775	rs_1603226766	2 SubmittersRCV000808033 RCV002381785
NM_000489.6(ATRX):c.16A>G (p.Met6Val)	SNV Germline	ChrX:77785986	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA10458408	rs_782080475	3 SubmittersRCV001566085 RCV000801601
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	CA413703461	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	CA915951293	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	CA517472460	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	CA10458184	rs_781865069	4 SubmittersRCV000868113 RCV001796287 RCV001816982 RCV004027713
NM_000489.6(ATRX):c.2423G>A (p.Arg808Gln)	SNV Germline	ChrX:77682833	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases Condition: not provided Acquired hemoglobin H disease Alpha thalassemia-X-linked intellectual disability syndrome Intellectual disability-hypotonic facies syndrome, X-linked, 1	Criteria Provided Conflicting Classifications	CA10458087	rs_782181535	4 SubmittersRCV000872672 RCV002454020 RCV001567030 RCV005392489
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	CA413702706	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	CA413700692	rs_1602876401	1 SubmittersRCV000990874
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	CA915951264	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	CA10457920	rs_782816523	2 SubmittersRCV000995971 RCV001869392
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	CA10457960	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	CA10458096	rs_782530243	3 SubmittersRCV001039255 RCV002239292
NM_000489.6(ATRX):c.1880G>A (p.Cys627Tyr)	SNV Germline	ChrX:77683376	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10458149	rs_370584074	5 SubmittersRCV001060075 RCV001593234 RCV004678936
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	CA413716749	rs_2071372283	4 SubmittersRCV001039588 RCV001268111
NM_000489.6(ATRX):c.1516C>T (p.Pro506Ser)	SNV Germline	ChrX:77683740	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA413717622	rs_1449091873	2 SubmittersRCV001041373 RCV001776100
NM_000489.6(ATRX):c.253A>G (p.Ile85Val)	SNV Germline	ChrX:77696694	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome not specified	Criteria Provided Conflicting Classifications	CA10458336	rs_150801485	2 SubmittersRCV001051330 RCV005408664
NM_000489.6(ATRX):c.1212G>C (p.Lys404Asn)	SNV Germline	ChrX:77684044	Conflicting classifications of pathogenicity	not specified Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA413719060	rs_2071413817	4 SubmittersRCV001175581 RCV001562548 RCV001345479
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	CA413718892	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	CA413706943	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	CA413707022	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	CA413707176	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	CA413699510	rs_2070037318	1 SubmittersRCV001235205
NM_000489.6(ATRX):c.3953A>G (p.Asn1318Ser)	SNV Germline	ChrX:77663549	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10457863	rs_782293614	2 SubmittersRCV001245097 RCV004963293
NM_000489.6(ATRX):c.3624A>G (p.Ile1208Met)	SNV Germline	ChrX:77681632	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10457930	rs_370693515	2 SubmittersRCV001248051 RCV005503055
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA10458393	rs_782399326	3 SubmittersRCV001239681 RCV002563952 RCV004809542
NM_000489.6(ATRX):c.1727C>G (p.Ser576Ter)	SNV Germline/somatic	ChrX:77683529	Pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome Neoplasm	Criteria Provided Single Submitter	CA413716747	rs_2071372283	2 SubmittersRCV001253201 RCV004671303
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	CA413724652	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 not specified	Criteria Provided Conflicting Classifications	CA10458173	rs_201284965	4 SubmittersRCV001262504 RCV002393675 RCV005437048
NM_000489.6(ATRX):c.7439G>A (p.Arg2480Lys)	SNV Germline	ChrX:77508391	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA10457375	rs_369871569	3 SubmittersRCV001776168 RCV001279979
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	CA517374038	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 Intellectual disability	Criteria Provided Conflicting Classifications	CA10458030	rs_149195735	6 SubmittersRCV001301952 RCV001776180 RCV002466656 RCV003284152 RCV005622100
NM_000489.6(ATRX):c.2787G>C (p.Glu929Asp)	SNV Germline	ChrX:77682469	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases Intellectual disability-hypotonic facies syndrome, X-linked, 1	Criteria Provided Conflicting Classifications	CA10458031	rs_782283059	5 SubmittersRCV001303921 RCV002437030 RCV001779152
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	CA413710513	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	CA10458014	rs_782424160	2 SubmittersRCV001321060 RCV001776195
NM_000489.6(ATRX):c.2342G>A (p.Arg781Gln)	SNV Germline	ChrX:77682914	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA413712627	rs_1603220762	3 SubmittersRCV001322919 RCV001796443 RCV002431919
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	CA2438965147	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 Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA413712657	rs_1411348345	3 SubmittersRCV001329931 RCV002546363 RCV002546364
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	CA413710512	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	CA413722825	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 ATR-X-related syndrome	Criteria Provided Multiple Submitters No Conflicts	CA413715204	rs_1557140492	2 SubmittersRCV001387072 RCV004789566
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	CA10458001	rs_367700285	5 SubmittersRCV001408998 RCV001573254 RCV002553438
NM_000489.6(ATRX):c.1615C>G (p.Gln539Glu)	SNV Germline	ChrX:77683641	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome ATR-X-related syndrome	Criteria Provided Conflicting Classifications	CA10458182	rs_782329833	2 SubmittersRCV001392792 RCV005361597
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	CA10458018	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	CA10458220	rs_782817063	2 SubmittersRCV001449124 RCV003145665
NM_000489.6(ATRX):c.48G>A (p.Gln16=)	SNV Germline	ChrX:77717216	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA517379608	rs_2148752584	2 SubmittersRCV001425506 RCV004762143
NM_000489.6(ATRX):c.6630T>C (p.Phe2210=)	SNV Germline	ChrX:77557520	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10457480	rs_147169853	2 SubmittersRCV001461617 RCV004762148
NM_000489.6(ATRX):c.3387G>A (p.Leu1129=)	SNV Germline	ChrX:77681869	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Intellectual disability-hypotonic facies syndrome, X-linked, 1	Criteria Provided Conflicting Classifications	CA10457965	rs_3761507	3 SubmittersRCV001451394 RCV001559292
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	CA10458044	rs_781903868	4 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 Condition: not provided	Criteria Provided Conflicting Classifications	CA331569057	rs_782253905	3 SubmittersRCV001475917 RCV002396130 RCV004704600
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	CA642698772	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	CA10457540	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	CA10457853	rs_782726588	2 SubmittersRCV001490449 RCV004526126
NM_000489.6(ATRX):c.1844A>G (p.Tyr615Cys)	SNV Germline	ChrX:77683412	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome not specified	Criteria Provided Conflicting Classifications	CA10458152	rs_782184873	2 SubmittersRCV001502886 RCV005419159
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	CA10458065	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 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	CA413700226	rs_1057521987	3 SubmittersRCV001526627 RCV001882566 RCV005040305
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	CA10457884	rs_201588422	4 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	CA413701171	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	CA10458100	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	CA413701423	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	CA517376416	rs_2148496532	2 SubmittersRCV001768231 RCV002074038
NM_000489.6(ATRX):c.7084A>G (p.Met2362Val)	SNV Germline	ChrX:77520904	Conflicting classifications of pathogenicity	Condition: not provided Intellectual disability-hypotonic facies syndrome, X-linked, 1 Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA413707433	rs_2147738058	2 SubmittersRCV001768257 RCV004728804
NM_000157.4(GBA1):c.695G>A (p.Gly232Glu)	SNV Germline	Chr1:155238200	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA342722010	rs_1376479747	2 SubmittersRCV001808963 RCV004719175
NM_000489.6(ATRX):c.6235C>T (p.Arg2079Ter)	SNV Germline/somatic	ChrX:77574341	Pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome Adrenal cortex carcinoma	Criteria Provided Single Submitter	CA413701251	rs_2148020083	2 SubmittersRCV003624466 RCV004813190
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	CA10457959	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	CA413706532	rs_782785569	2 SubmittersRCV001839479 RCV003624469
NM_000489.6(ATRX):c.5281A>G (p.Met1761Val)	SNV Germline	ChrX:77618973	Likely pathogenic	Intellectual disability-hypotonic facies syndrome, X-linked, 1 Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Multiple Submitters No Conflicts	CA413701186	rs_2148260943	4 SubmittersRCV003152772 RCV001843876 RCV005412283
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	CA331568984	rs_781917332	2 SubmittersRCV001975353 RCV003227053
NM_000489.6(ATRX):c.254T>A (p.Ile85Asn)	SNV Germline	ChrX:77696693	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA413724183	rs_1402319857	2 SubmittersRCV001963781 RCV004970659
NM_000489.6(ATRX):c.1186A>C (p.Lys396Gln)	SNV Germline	ChrX:77684070	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome not specified Intellectual disability-hypotonic facies syndrome, X-linked, 1 Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA413719166	rs_2071415045	3 SubmittersRCV001932189 RCV003230704 RCV004728868
NM_000489.6(ATRX):c.4081A>G (p.Lys1361Glu)	SNV Germline	ChrX:77663421	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA413699485	rs_1886161029	2 SubmittersRCV001935069 RCV004774523
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	CA413710117	rs_2147761759	1 SubmittersRCV002037060
NM_000489.6(ATRX):c.5000A>G (p.Tyr1667Cys)	SNV Germline	ChrX:77633341	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Intellectual disability-hypotonic facies syndrome, X-linked, 1	Criteria Provided Conflicting Classifications	CA413703729	rs_1557106489	2 SubmittersRCV002035074 RCV005253903
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	CA413700215	rs_1557096992	2 SubmittersRCV002030400 RCV003170385
NM_000489.6(ATRX):c.3449A>G (p.Gln1150Arg)	SNV Germline	ChrX:77681807	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases Alpha thalassemia-X-linked intellectual disability syndrome Intellectual disability-hypotonic facies syndrome, X-linked, 1	Criteria Provided Conflicting Classifications	CA413706471	rs_2148573004	3 SubmittersRCV001914233 RCV004970531 RCV004728944
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	CA1134486947	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	CA10458037	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	CA10457592	rs_782151425	2 SubmittersRCV002111508 RCV003025378
NM_000489.6(ATRX):c.4215-4T>A	SNV Germline	ChrX:77654204	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA2573159538	rs_2148451946	2 SubmittersRCV002221801 RCV003089135
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	CA413722496	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	CA413712445	rs_891068548	1 SubmittersRCV002238573
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	CA413697888	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	CA413715663	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	CA413700783	rs_2148259374	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	CA10457834	rs_782800692	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 Condition: not provided	Criteria Provided Conflicting Classifications	CA413706974	rs_1557137763	3 SubmittersRCV002325041 RCV003624476 RCV004774654
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	CA413699591	rs_111725949	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	CA413707396	rs_1557138007	2 SubmittersRCV003080289 RCV003147820
NM_000489.6(ATRX):c.3437C>T (p.Thr1146Ile)	SNV Germline	ChrX:77681819	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA413706499	rs_368828845	2 SubmittersRCV002592432 RCV003161944
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 Inborn genetic diseases Acquired hemoglobin H disease Intellectual disability-hypotonic facies syndrome, X-linked, 1 Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA413707861	rs_1412505197	4 SubmittersRCV002629852 RCV003229937 RCV004676169 RCV005050763
NM_000489.6(ATRX):c.4244A>G (p.Asn1415Ser)	SNV Germline	ChrX:77654171	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome not specified	Criteria Provided Conflicting Classifications	CA10457818	rs_782562458	2 SubmittersRCV003112456 RCV004801311
NM_000489.6(ATRX):c.1639G>A (p.Asp547Asn)	SNV Germline	ChrX:77683617	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome not specified	Criteria Provided Conflicting Classifications	CA10458178	rs_782760045	2 SubmittersRCV002658775 RCV004801235
NM_000489.6(ATRX):c.3013A>G (p.Met1005Val)	SNV Germline	ChrX:77682243	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10458005	rs_782513533	2 SubmittersRCV002735370 RCV005505489
NM_000489.6(ATRX):c.2282A>G (p.His761Arg)	SNV Germline	ChrX:77682974	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10458104	rs_782493929	2 SubmittersRCV002761621 RCV004774730
NM_000489.6(ATRX):c.1865C>T (p.Pro622Leu)	SNV Germline	ChrX:77683391	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA413715802	rs_1557140622	3 SubmittersRCV002846863 RCV005288828 RCV003225244
NM_000489.6(ATRX):c.3265A>G (p.Arg1089Gly)	SNV Germline	ChrX:77681991	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA413707053	rs_2148577649	2 SubmittersRCV002908076 RCV004598225
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	CA10458124	rs_782703008	2 SubmittersRCV002982981 RCV004529184
NM_000489.6(ATRX):c.1948G>C (p.Glu650Gln)	SNV Germline	ChrX:77683308	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10458143	rs_782760805	2 SubmittersRCV003009068 RCV004593119
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	CA413723793	rs_1557149892	2 SubmittersRCV002940573 RCV003512190
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	CA413718236	rs_2148623651	1 SubmittersRCV003123392
NM_000489.6(ATRX):c.2571A>C (p.Lys857Asn)	SNV Germline	ChrX:77682685	Conflicting classifications of pathogenicity	Condition: not provided Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA413711657	rs_2148594122	2 SubmittersRCV003143681 RCV005099369
NM_000489.6(ATRX):c.758T>C (p.Leu253Ser)	SNV Unknown	ChrX:77684498	Likely pathogenic	Intellectual disability-hypotonic facies syndrome, X-linked, 1 Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter	CA413720731	rs_2148638603	1 SubmittersRCV003148563 RCV003148562
NM_000489.6(ATRX):c.233G>T (p.Arg78Leu)	SNV Germline	ChrX:77697592	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Intellectual disability-hypotonic facies syndrome, X-linked, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA413724250	rs_2072253922	2 SubmittersRCV004725666 RCV003154415
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	CA413704778	rs_2522399270	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	CA331565685	rs_895159127	3 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	CA413709688	rs_2147760387	1 SubmittersRCV003444076
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	CA413708290	rs_2071246388	1 SubmittersRCV003512412
NM_000489.6(ATRX):c.1252C>T (p.Arg418Ter)	SNV Germline	ChrX:77684004	Pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA413718894	rs_1057523785	2 SubmittersRCV003513324 RCV004810015
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	CA413710856	rs_2148590668	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 Childhood hypophosphatasia Adult hypophosphatasia Infantile hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts	CA338879047	rs_1644592603	3 SubmittersRCV003567461 RCV004526999 RCV004540724 RCV005014802
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	CA413699447	rs_2147950429	1 SubmittersRCV003624849
NM_000489.6(ATRX):c.3569G>C (p.Arg1190Thr)	SNV Germline	ChrX:77681687	Conflicting classifications of pathogenicity	Inborn genetic diseases Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications	CA413706198	rs_1557137075	2 SubmittersRCV005505706 RCV003624690
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	CA413722827	rs_2520079176	1 SubmittersRCV003625625
NM_000489.6(ATRX):c.4981C>T (p.Arg1661Cys)	SNV Germline	ChrX:77633360	Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA413703832	rs_2148338047	3 SubmittersRCV003988713 RCV005435392
NM_000489.6(ATRX):c.5350A>G (p.Ile1784Val)	SNV Germline	ChrX:77618904	Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004666700
NM_000489.6(ATRX):c.797A>G (p.Tyr266Cys)	SNV Germline	ChrX:77684459	Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004787561
NM_000489.6(ATRX):c.559T>G (p.Tyr187Asp)	SNV Germline	ChrX:77688853	Likely pathogenic	Acquired hemoglobin H disease Alpha thalassemia-X-linked intellectual disability syndrome Intellectual disability-hypotonic facies syndrome, X-linked, 1	Criteria Provided Single Submitter			1 SubmittersRCV004796564
NM_000489.6(ATRX):c.5339T>A (p.Phe1780Tyr)	SNV Germline	ChrX:77618915	Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004799008
NM_000489.6(ATRX):c.4861A>G (p.Thr1621Ala)	SNV Germline	ChrX:77633661	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV004813420
NM_000489.6(ATRX):c.7096G>T (p.Glu2366Ter)	SNV Germline	ChrX:77520892	Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome Acquired hemoglobin H disease Intellectual disability-hypotonic facies syndrome, X-linked, 1	Criteria Provided Single Submitter			1 SubmittersRCV005041894
NM_000489.6(ATRX):c.3010A>T (p.Lys1004Ter)	SNV Germline	ChrX:77682246	Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome Acquired hemoglobin H disease Intellectual disability-hypotonic facies syndrome, X-linked, 1	Criteria Provided Single Submitter			1 SubmittersRCV005041895
NM_000489.6(ATRX):c.798C>G (p.Tyr266Ter)	SNV Germline	ChrX:77684458	Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome Acquired hemoglobin H disease Intellectual disability-hypotonic facies syndrome, X-linked, 1	Criteria Provided Single Submitter			1 SubmittersRCV005049865
NM_000489.6(ATRX):c.6976-2A>G	SNV Germline	ChrX:77521500	Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005201215
NM_000489.6(ATRX):c.728G>A (p.Cys243Tyr)	SNV Germline	ChrX:77684528	Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	No Assertion Criteria Provided			1 SubmittersRCV005614966
NM_000489.6(ATRX):c.727T>C (p.Cys243Arg)	SNV Germline	ChrX:77684529	Likely pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome	No Assertion Criteria Provided			1 SubmittersRCV005610317

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

Criteria Provided
Multiple Submitters
No Conflicts

CA256034

rs_122445099

8 SubmittersRCV000012494 RCV000723525 RCV002283442 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

CA2573159532

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
Alpha thalassemia-X-linked intellectual disability syndrome
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

5 SubmittersRCV000012497 RCV000199096 RCV005606633 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

CA413720749

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
Intellectual disability-hypotonic facies syndrome, X-linked, 1
Alpha thalassemia-X-linked intellectual disability syndrome
Acquired hemoglobin H disease
Intellectual disability-hypotonic facies syndrome, X-linked, 1
Renier-Gabreels-Jasper syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA204872

rs_122445105

19 SubmittersRCV000012501 RCV000078972 RCV000190796 RCV000763634 RCV001252427 RCV001249275

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
ATRX-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA256049

rs_122445106

4 SubmittersRCV000012505 RCV003128081 RCV004734510 RCV005416320

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

Criteria Provided
Multiple Submitters
No Conflicts

CA121653

rs_122445108

14 SubmittersRCV000012508 RCV000148028 RCV000224314 RCV000680146 RCV002444427 RCV003151722 RCV004795394

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_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

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

Criteria Provided
Conflicting Classifications

CA221002

rs_142180002

5 SubmittersRCV001086632 RCV002514389 RCV000710719

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
Inborn genetic diseases
ATRX-related disorder

Criteria Provided
Conflicting Classifications

CA230921

rs_587780285

6 SubmittersRCV000116461 RCV001083597 RCV002316296 RCV004542838

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
Inborn genetic diseases
ATRX-related disorder

Criteria Provided
Conflicting Classifications

CA157213

rs_587778082

5 SubmittersRCV000120172 RCV000640834 RCV002408624 RCV004529996

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

SNV
Germline

ChrX:77682743

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA157220

rs_587778085

4 SubmittersRCV000120176 RCV003436932 RCV002515820 RCV004678614

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

SNV
Germline

ChrX:77682495

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA157238

rs_587778088

4 SubmittersRCV000120186 RCV004678615 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.2102G>A (p.Arg701His)

SNV
Germline

ChrX:77683154

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA236355

rs_797044563

2 SubmittersRCV000171440 RCV005089859

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

SNV
Germline

ChrX:77663378

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA208162

rs_200420513

8 SubmittersRCV000194168 RCV000724115 RCV001084811 RCV002321688

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA247990

rs_145678415

5 SubmittersRCV000180508 RCV000723983 RCV001085725 RCV004965302

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

SNV
Germline

ChrX:77682474

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
Acquired hemoglobin H disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA247992

rs_797044792

6 SubmittersRCV000180509 RCV001241409 RCV002485181 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
Alpha thalassemia-X-linked intellectual disability syndrome
Inborn genetic diseases
Intellectual disability

Criteria Provided
Conflicting Classifications

CA247998

rs_782781078

6 SubmittersRCV000180512 RCV000640830 RCV002517765 RCV005625390

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA209637

rs_797045405

3 SubmittersRCV000195062 RCV001852549 RCV005298458

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10457376

rs_200478641

4 SubmittersRCV000353527 RCV001087963 RCV004965364

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

Criteria Provided
Conflicting Classifications

CA10457842

rs_782553301

8 SubmittersRCV000271653 RCV001510472 RCV002055056 RCV003224252 RCV002317813

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

SNV
Germline

ChrX:77654191

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10457820

rs_781984385

4 SubmittersRCV000277044 RCV001083048 RCV002328774

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10606603

rs_886044896

3 SubmittersRCV000259592 RCV001262505 RCV004965378

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

5 SubmittersRCV000414248 RCV001775115 RCV003512036

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

SNV
Germline

ChrX:77574322

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

CA16043310

rs_1057517948

6 SubmittersRCV000413472 RCV002288984 RCV001197192

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

SNV
Germline

ChrX:77688843

Likely pathogenic

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

Criteria Provided
Single Submitter

CA16043718

rs_1057518708

2 SubmittersRCV000415467 RCV004822044

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

Criteria Provided
Conflicting Classifications

CA16608595

rs_947189709

4 SubmittersRCV000418029 RCV005298487 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

3 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

3 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
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA16609214

rs_1057523431

4 SubmittersRCV000417534 RCV000809360 RCV003151056 RCV002522517

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

SNV
Germline

ChrX:77684223

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10458243

rs_149249195

6 SubmittersRCV001084389 RCV000726862 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

Microcephaly
Global developmental delay
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
Intellectual disability-hypotonic facies syndrome, X-linked, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA413704566

rs_1135401793

4 SubmittersRCV000496126 RCV005410904 RCV003332185

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

SNV
Germline

ChrX:77663467

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA331568072

rs_111725949

5 SubmittersRCV000499963 RCV004808735 RCV001475959 RCV002316433 RCV004541554

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

SNV
Germline

ChrX:77663471

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10457855

rs_782556767

5 SubmittersRCV000499926 RCV000833627 RCV000624685 RCV000692943 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_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.2105A>G (p.Asn702Ser)

SNV
Germline

ChrX:77683151

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10458130

rs_782409603

3 SubmittersRCV000554376 RCV005298519

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

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

Criteria Provided
Conflicting Classifications

CA10457377

rs_199543136

3 SubmittersRCV000623175 RCV000766105 RCV000976466

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

SNV
Germline

ChrX:77522351

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA413701291

rs_141240580

3 SubmittersRCV000623581 RCV001855297 RCV001201290

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

CA413703513

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

CA413706947

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

CA517376130

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10457941

rs_782554626

4 SubmittersRCV000692042 RCV003144514 RCV004965674

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

CA413699660

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

CA10458056

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

CA413699501

rs_1557124033

2 SubmittersRCV002312272 RCV002532985

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

SNV
Germline

ChrX:77633715

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10457740

rs_370596323

3 SubmittersRCV001080925 RCV000730810 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

CA10458214

rs_782163488

3 SubmittersRCV001830590 RCV002314580

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

SNV
Germline

ChrX:77682104

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA413707602

rs_1557138081

2 SubmittersRCV002534530 RCV002312276

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
ATR-X-related syndrome

Criteria Provided
Conflicting Classifications

CA10458228

rs_150484080

5 SubmittersRCV000875902 RCV002317949 RCV003228984 RCV004535789 RCV005357964

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

CA413709910

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

CA10458175

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10458231

rs_781955237

4 SubmittersRCV000810993 RCV001776024 RCV004962834

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

CA413720775

rs_1603226766

2 SubmittersRCV000808033 RCV002381785

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

SNV
Germline

ChrX:77785986

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10458408

rs_782080475

3 SubmittersRCV001566085 RCV000801601

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

CA413703461

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

CA915951293

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

CA517472460

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

CA10458184

rs_781865069

4 SubmittersRCV000868113 RCV001796287 RCV001816982 RCV004027713

NM_000489.6(ATRX):c.2423G>A (p.Arg808Gln)

SNV
Germline

ChrX:77682833

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10458087

rs_782181535

4 SubmittersRCV000872672 RCV002454020 RCV001567030 RCV005392489

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

CA413702706

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

CA413700692

rs_1602876401

1 SubmittersRCV000990874

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

CA915951264

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

CA10457920

rs_782816523

2 SubmittersRCV000995971 RCV001869392

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

CA10457960

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

CA10458096

rs_782530243

3 SubmittersRCV001039255 RCV002239292

NM_000489.6(ATRX):c.1880G>A (p.Cys627Tyr)

SNV
Germline

ChrX:77683376

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10458149

rs_370584074

5 SubmittersRCV001060075 RCV001593234 RCV004678936

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

CA413716749

rs_2071372283

4 SubmittersRCV001039588 RCV001268111

NM_000489.6(ATRX):c.1516C>T (p.Pro506Ser)

SNV
Germline

ChrX:77683740

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA413717622

rs_1449091873

2 SubmittersRCV001041373 RCV001776100

NM_000489.6(ATRX):c.253A>G (p.Ile85Val)

SNV
Germline

ChrX:77696694

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10458336

rs_150801485

2 SubmittersRCV001051330 RCV005408664

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

SNV
Germline

ChrX:77684044

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA413719060

rs_2071413817

4 SubmittersRCV001175581 RCV001562548 RCV001345479

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

CA413718892

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

CA413706943

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

CA413707022

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

CA413707176

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

CA413699510

rs_2070037318

1 SubmittersRCV001235205

NM_000489.6(ATRX):c.3953A>G (p.Asn1318Ser)

SNV
Germline

ChrX:77663549

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10457863

rs_782293614

2 SubmittersRCV001245097 RCV004963293

NM_000489.6(ATRX):c.3624A>G (p.Ile1208Met)

SNV
Germline

ChrX:77681632

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10457930

rs_370693515

2 SubmittersRCV001248051 RCV005503055

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10458393

rs_782399326

3 SubmittersRCV001239681 RCV002563952 RCV004809542

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

SNV
Germline/somatic

ChrX:77683529

Pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome
Neoplasm

Criteria Provided
Single Submitter

CA413716747

rs_2071372283

2 SubmittersRCV001253201 RCV004671303

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

CA413724652

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
not specified

Criteria Provided
Conflicting Classifications

CA10458173

rs_201284965

4 SubmittersRCV001262504 RCV002393675 RCV005437048

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

SNV
Germline

ChrX:77508391

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10457375

rs_369871569

3 SubmittersRCV001776168 RCV001279979

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

CA517374038

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
Intellectual disability

Criteria Provided
Conflicting Classifications

CA10458030

rs_149195735

6 SubmittersRCV001301952 RCV001776180 RCV002466656 RCV003284152 RCV005622100

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

SNV
Germline

ChrX:77682469

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10458031

rs_782283059

5 SubmittersRCV001303921 RCV002437030 RCV001779152

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

CA413710513

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

CA10458014

rs_782424160

2 SubmittersRCV001321060 RCV001776195

NM_000489.6(ATRX):c.2342G>A (p.Arg781Gln)

SNV
Germline

ChrX:77682914

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA413712627

rs_1603220762

3 SubmittersRCV001322919 RCV001796443 RCV002431919

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

CA2438965147

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

Criteria Provided
Conflicting Classifications

CA413712657

rs_1411348345

3 SubmittersRCV001329931 RCV002546363 RCV002546364

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

CA413710512

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

CA413722825

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
ATR-X-related syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA413715204

rs_1557140492

2 SubmittersRCV001387072 RCV004789566

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

CA10458001

rs_367700285

5 SubmittersRCV001408998 RCV001573254 RCV002553438

NM_000489.6(ATRX):c.1615C>G (p.Gln539Glu)

SNV
Germline

ChrX:77683641

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
ATR-X-related syndrome

Criteria Provided
Conflicting Classifications

CA10458182

rs_782329833

2 SubmittersRCV001392792 RCV005361597

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

CA10458018

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

CA10458220

rs_782817063

2 SubmittersRCV001449124 RCV003145665

NM_000489.6(ATRX):c.48G>A (p.Gln16=)

SNV
Germline

ChrX:77717216

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA517379608

rs_2148752584

2 SubmittersRCV001425506 RCV004762143

NM_000489.6(ATRX):c.6630T>C (p.Phe2210=)

SNV
Germline

ChrX:77557520

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10457480

rs_147169853

2 SubmittersRCV001461617 RCV004762148

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

SNV
Germline

ChrX:77681869

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10457965

rs_3761507

3 SubmittersRCV001451394 RCV001559292

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

CA10458044

rs_781903868

4 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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA331569057

rs_782253905

3 SubmittersRCV001475917 RCV002396130 RCV004704600

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

CA642698772

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

CA10457540

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

CA10457853

rs_782726588

2 SubmittersRCV001490449 RCV004526126

NM_000489.6(ATRX):c.1844A>G (p.Tyr615Cys)

SNV
Germline

ChrX:77683412

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10458152

rs_782184873

2 SubmittersRCV001502886 RCV005419159

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

CA10458065

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
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

CA413700226

rs_1057521987

3 SubmittersRCV001526627 RCV001882566 RCV005040305

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

CA10457884

rs_201588422

4 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

CA413701171

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

CA10458100

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

CA413701423

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

CA517376416

rs_2148496532

2 SubmittersRCV001768231 RCV002074038

NM_000489.6(ATRX):c.7084A>G (p.Met2362Val)

SNV
Germline

ChrX:77520904

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA413707433

rs_2147738058

2 SubmittersRCV001768257 RCV004728804

NM_000157.4(GBA1):c.695G>A (p.Gly232Glu)

SNV
Germline

Chr1:155238200

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA342722010

rs_1376479747

2 SubmittersRCV001808963 RCV004719175

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

SNV
Germline/somatic

ChrX:77574341

Pathogenic

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

Criteria Provided
Single Submitter

CA413701251

rs_2148020083

2 SubmittersRCV003624466 RCV004813190

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

CA10457959

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

CA413706532

rs_782785569

2 SubmittersRCV001839479 RCV003624469

NM_000489.6(ATRX):c.5281A>G (p.Met1761Val)

SNV
Germline

ChrX:77618973

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA413701186

rs_2148260943

4 SubmittersRCV003152772 RCV001843876 RCV005412283

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

CA331568984

rs_781917332

2 SubmittersRCV001975353 RCV003227053

NM_000489.6(ATRX):c.254T>A (p.Ile85Asn)

SNV
Germline

ChrX:77696693

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA413724183

rs_1402319857

2 SubmittersRCV001963781 RCV004970659

NM_000489.6(ATRX):c.1186A>C (p.Lys396Gln)

SNV
Germline

ChrX:77684070

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
not specified
Intellectual disability-hypotonic facies syndrome, X-linked, 1
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

CA413719166

rs_2071415045

3 SubmittersRCV001932189 RCV003230704 RCV004728868

NM_000489.6(ATRX):c.4081A>G (p.Lys1361Glu)

SNV
Germline

ChrX:77663421

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA413699485

rs_1886161029

2 SubmittersRCV001935069 RCV004774523

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

CA413710117

rs_2147761759

1 SubmittersRCV002037060

NM_000489.6(ATRX):c.5000A>G (p.Tyr1667Cys)

SNV
Germline

ChrX:77633341

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA413703729

rs_1557106489

2 SubmittersRCV002035074 RCV005253903

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

CA413700215

rs_1557096992

2 SubmittersRCV002030400 RCV003170385

NM_000489.6(ATRX):c.3449A>G (p.Gln1150Arg)

SNV
Germline

ChrX:77681807

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA413706471

rs_2148573004

3 SubmittersRCV001914233 RCV004970531 RCV004728944

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

CA1134486947

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

CA10458037

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

CA10457592

rs_782151425

2 SubmittersRCV002111508 RCV003025378

NM_000489.6(ATRX):c.4215-4T>A

SNV
Germline

ChrX:77654204

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2573159538

rs_2148451946

2 SubmittersRCV002221801 RCV003089135

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

CA413722496

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

CA413712445

rs_891068548

1 SubmittersRCV002238573

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

CA413697888

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

CA413715663

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

CA413700783

rs_2148259374

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

CA10457834

rs_782800692

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA413706974

rs_1557137763

3 SubmittersRCV002325041 RCV003624476 RCV004774654

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

CA413699591

rs_111725949

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

CA413707396

rs_1557138007

2 SubmittersRCV003080289 RCV003147820

NM_000489.6(ATRX):c.3437C>T (p.Thr1146Ile)

SNV
Germline

ChrX:77681819

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA413706499

rs_368828845

2 SubmittersRCV002592432 RCV003161944

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

Criteria Provided
Conflicting Classifications

CA413707861

rs_1412505197

4 SubmittersRCV002629852 RCV003229937 RCV004676169 RCV005050763

NM_000489.6(ATRX):c.4244A>G (p.Asn1415Ser)

SNV
Germline

ChrX:77654171

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10457818

rs_782562458

2 SubmittersRCV003112456 RCV004801311

NM_000489.6(ATRX):c.1639G>A (p.Asp547Asn)

SNV
Germline

ChrX:77683617

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10458178

rs_782760045

2 SubmittersRCV002658775 RCV004801235

NM_000489.6(ATRX):c.3013A>G (p.Met1005Val)

SNV
Germline

ChrX:77682243

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10458005

rs_782513533

2 SubmittersRCV002735370 RCV005505489

NM_000489.6(ATRX):c.2282A>G (p.His761Arg)

SNV
Germline

ChrX:77682974

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10458104

rs_782493929

2 SubmittersRCV002761621 RCV004774730

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

SNV
Germline

ChrX:77683391

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA413715802

rs_1557140622

3 SubmittersRCV002846863 RCV005288828 RCV003225244

NM_000489.6(ATRX):c.3265A>G (p.Arg1089Gly)

SNV
Germline

ChrX:77681991

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA413707053

rs_2148577649

2 SubmittersRCV002908076 RCV004598225

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

CA10458124

rs_782703008

2 SubmittersRCV002982981 RCV004529184

NM_000489.6(ATRX):c.1948G>C (p.Glu650Gln)

SNV
Germline

ChrX:77683308

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10458143

rs_782760805

2 SubmittersRCV003009068 RCV004593119

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

CA413723793

rs_1557149892

2 SubmittersRCV002940573 RCV003512190

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

CA413718236

rs_2148623651

1 SubmittersRCV003123392

NM_000489.6(ATRX):c.2571A>C (p.Lys857Asn)

SNV
Germline

ChrX:77682685

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA413711657

rs_2148594122

2 SubmittersRCV003143681 RCV005099369

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

SNV
Unknown

ChrX:77684498

Likely pathogenic

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

Criteria Provided
Single Submitter

CA413720731

rs_2148638603

1 SubmittersRCV003148563 RCV003148562

NM_000489.6(ATRX):c.233G>T (p.Arg78Leu)

SNV
Germline

ChrX:77697592

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA413724250

rs_2072253922

2 SubmittersRCV004725666 RCV003154415

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

CA413704778

rs_2522399270

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

CA331565685

rs_895159127

3 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

CA413709688

rs_2147760387

1 SubmittersRCV003444076

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

CA413708290

rs_2071246388

1 SubmittersRCV003512412

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

SNV
Germline

ChrX:77684004

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA413718894

rs_1057523785

2 SubmittersRCV003513324 RCV004810015

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

CA413710856

rs_2148590668

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
Childhood hypophosphatasia
Adult hypophosphatasia
Infantile hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

CA338879047

rs_1644592603

3 SubmittersRCV003567461 RCV004526999 RCV004540724 RCV005014802

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

CA413699447

rs_2147950429

1 SubmittersRCV003624849

NM_000489.6(ATRX):c.3569G>C (p.Arg1190Thr)

SNV
Germline

ChrX:77681687

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA413706198

rs_1557137075

2 SubmittersRCV005505706 RCV003624690

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

CA413722827

rs_2520079176

1 SubmittersRCV003625625

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

SNV
Germline

ChrX:77633360

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA413703832

rs_2148338047

3 SubmittersRCV003988713 RCV005435392

NM_000489.6(ATRX):c.5350A>G (p.Ile1784Val)

SNV
Germline

ChrX:77618904

Likely pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004666700

NM_000489.6(ATRX):c.797A>G (p.Tyr266Cys)

SNV
Germline

ChrX:77684459

Likely pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004787561

NM_000489.6(ATRX):c.559T>G (p.Tyr187Asp)

SNV
Germline

ChrX:77688853

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV004796564

NM_000489.6(ATRX):c.5339T>A (p.Phe1780Tyr)

SNV
Germline

ChrX:77618915

Likely pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004799008

NM_000489.6(ATRX):c.4861A>G (p.Thr1621Ala)

SNV
Germline

ChrX:77633661

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004813420

NM_000489.6(ATRX):c.7096G>T (p.Glu2366Ter)

SNV
Germline

ChrX:77520892

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005041894

NM_000489.6(ATRX):c.3010A>T (p.Lys1004Ter)

SNV
Germline

ChrX:77682246

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005041895

NM_000489.6(ATRX):c.798C>G (p.Tyr266Ter)

SNV
Germline

ChrX:77684458

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005049865

NM_000489.6(ATRX):c.6976-2A>G

SNV
Germline

ChrX:77521500

Likely pathogenic

Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005201215

NM_000489.6(ATRX):c.728G>A (p.Cys243Tyr)

SNV
Germline

ChrX:77684528