Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000169.3(GLA):c.1066C>T (p.Arg356Trp)	SNV Germline	ChrX:101398033	Pathogenic	Fabry disease Condition: not provided GLA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA021340	rs_104894827	7 SubmittersRCV000011459 RCV001781217 RCV003398483
NM_000169.3(GLA):c.902G>A (p.Arg301Gln)	SNV Germline	ChrX:101398467	Pathogenic	Fabry disease, cardiac variant Fabry disease Cardiovascular phenotype Primary familial hypertrophic cardiomyopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA022189	rs_104894828	12 SubmittersRCV000011461 RCV000011462 RCV000244581 RCV000845380 RCV000723405
NM_000169.3(GLA):c.131G>A (p.Trp44Ter)	SNV Germline	ChrX:101407773	Pathogenic	Fabry disease	No Assertion Criteria Provided	CA021519	rs_104894829	1 SubmittersRCV000011463
NM_000169.3(GLA):c.886A>G (p.Met296Val)	SNV Germline	ChrX:101398483	Pathogenic/Likely pathogenic	Fabry disease, cardiac variant Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA022141	rs_104894830	7 SubmittersRCV000011464 RCV000179267 RCV001185735
NM_000169.3(GLA):c.118C>T (p.Pro40Ser)	SNV Germline	ChrX:101407786	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA021436	rs_104894831	5 SubmittersRCV000011466 RCV000729403
NM_000169.3(GLA):c.999+1G>T	SNV Germline	ChrX:101398369	Pathogenic	Fabry disease	No Assertion Criteria Provided		rs_1603038103	1 SubmittersRCV000011467
NM_000169.3(GLA):c.835C>G (p.Gln279Glu)	SNV Germline	ChrX:101398534	Likely pathogenic	Fabry disease, cardiac variant Condition: not provided	Criteria Provided Single Submitter	CA022117	rs_28935485	2 SubmittersRCV000011468 RCV001781218
NM_000169.3(GLA):c.982G>A (p.Gly328Arg)	SNV Germline	ChrX:101398387	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Single Submitter	CA022255	rs_104894832	2 SubmittersRCV000011469 RCV000723846
NM_000169.3(GLA):c.196G>C (p.Glu66Gln)	SNV Germline	ChrX:101403984	Conflicting classifications of pathogenicity	not specified Condition: not provided Fabry disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA021590	rs_104894833	12 SubmittersRCV000150750 RCV000728539 RCV000822343 RCV003162613
NM_000169.3(GLA):c.101A>G (p.Asn34Ser)	SNV Germline	ChrX:101407803	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA021300	rs_104894835	6 SubmittersRCV000011471 RCV000723530
NM_000169.3(GLA):c.166T>G (p.Cys56Gly)	SNV Germline	ChrX:101407738	Pathogenic	Fabry disease	No Assertion Criteria Provided	CA021558	rs_104894836	1 SubmittersRCV000011472
NM_000169.3(GLA):c.466G>A (p.Ala156Thr)	SNV Germline	ChrX:101401713	Pathogenic	Fabry disease	No Assertion Criteria Provided	CA021734	rs_28935195	1 SubmittersRCV000011474
NM_000169.3(GLA):c.484T>C (p.Trp162Arg)	SNV Germline	ChrX:101401695	Pathogenic/Likely pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA021748	rs_28935196	3 SubmittersRCV000011475 RCV003137512
NM_000169.3(GLA):c.606T>G (p.Cys202Trp)	SNV Germline	ChrX:101400699	Pathogenic	Fabry disease	No Assertion Criteria Provided	CA021821	rs_104894838	1 SubmittersRCV000011476
NM_000169.3(GLA):c.644A>G (p.Asn215Ser)	SNV Germline	ChrX:101398942	Pathogenic	Fabry disease Condition: not provided Hypertrophic cardiomyopathy Fabry disease Cardiovascular phenotype Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA021924	rs_28935197	22 SubmittersRCV000011477 RCV000157896 RCV000844705 RCV000618059 RCV001798000
NM_000169.3(GLA):c.806T>C (p.Val269Ala)	SNV Germline	ChrX:101398563	Pathogenic	Fabry disease	No Assertion Criteria Provided	CA022087	rs_28935488	1 SubmittersRCV000011482
NM_000169.3(GLA):c.680G>A (p.Arg227Gln)	SNV Germline	ChrX:101398906	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA021972	rs_104894840	10 SubmittersRCV000011478 RCV000157898
NM_000169.3(GLA):c.679C>T (p.Arg227Ter)	SNV Germline	ChrX:101398907	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA021963	rs_104894841	9 SubmittersRCV000011479 RCV000157897
NM_000169.3(GLA):c.791A>T (p.Asp264Val)	SNV Germline	ChrX:101398795	Pathogenic/Likely pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA022056	rs_28935486	5 SubmittersRCV000011480 RCV000724649
NM_000169.3(GLA):c.797A>T (p.Asp266Val)	SNV Germline	ChrX:101398789	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA022064	rs_28935487	4 SubmittersRCV000011481 RCV000733417
NM_000169.3(GLA):c.861G>A (p.Trp287Ter)	SNV Germline	ChrX:101398508	Pathogenic	Fabry disease	No Assertion Criteria Provided	CA022128	rs_104894839	1 SubmittersRCV000011483
NM_000169.3(GLA):c.890C>T (p.Ser297Phe)	SNV Germline	ChrX:101398479	Pathogenic	Fabry disease	Criteria Provided Single Submitter	CA022153	rs_28935489	2 SubmittersRCV000011484
NM_000169.3(GLA):c.979C>A (p.Gln327Lys)	SNV Germline	ChrX:101398390	Pathogenic	Fabry disease	No Assertion Criteria Provided	CA022249	rs_28935491	1 SubmittersRCV000011487
NM_000169.3(GLA):c.983G>C (p.Gly328Ala)	SNV Germline	ChrX:101398386	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA022267	rs_28935492	3 SubmittersRCV000011488 RCV000723545
NM_000169.3(GLA):c.1020G>A (p.Trp340Ter)	SNV Germline	ChrX:101398079	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA021307	rs_104894842	5 SubmittersRCV000011489 RCV000727594
NM_000169.3(GLA):c.1025G>A (p.Arg342Gln)	SNV Germline	ChrX:101398074	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA021326	rs_28935493	8 SubmittersRCV000011490 RCV000723455
NM_000169.3(GLA):c.1024C>T (p.Arg342Ter)	SNV Germline	ChrX:101398075	Pathogenic	Fabry disease Condition: not provided GLA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA021320	rs_104894843	10 SubmittersRCV000011491 RCV000723730 RCV003398484
NM_000169.3(GLA):c.1081G>C (p.Gly361Arg)	SNV Germline	ChrX:101398018	Pathogenic	Fabry disease	No Assertion Criteria Provided	CA021360	rs_28935494	1 SubmittersRCV000011492
NM_000169.3(GLA):c.1192G>T (p.Glu398Ter)	SNV Germline	ChrX:101397907	Pathogenic	Fabry disease	Criteria Provided Single Submitter	CA021448	rs_104894844	2 SubmittersRCV000011493
NM_000169.3(GLA):c.369+2T>G	SNV Germline	ChrX:101403809	Pathogenic	Fabry disease	No Assertion Criteria Provided	CA021675	rs_387906483	1 SubmittersRCV000011485
NM_000169.3(GLA):c.888G>A (p.Met296Ile)	SNV Germline	ChrX:101398481	Pathogenic	Fabry disease, cardiac variant	No Assertion Criteria Provided	CA022146	rs_104894846	1 SubmittersRCV000011510
NM_000169.3(GLA):c.58G>C (p.Ala20Pro)	SNV Germline	ChrX:101407846	Pathogenic	Fabry disease, cardiac variant	No Assertion Criteria Provided	CA021802	rs_104894847	1 SubmittersRCV000011511
NM_000169.3(GLA):c.194G>C (p.Ser65Thr)	SNV Germline	ChrX:101407710	Pathogenic	Fabry disease	No Assertion Criteria Provided	CA021577	rs_104894848	1 SubmittersRCV000011513
NM_000169.3(GLA):c.1095T>A (p.Tyr365Ter)	SNV Germline	ChrX:101398004	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Single Submitter	CA021385	rs_104894849	2 SubmittersRCV000011514 RCV001781220
NM_000169.3(GLA):c.640-801G>A	SNV Germline	ChrX:101399747	Conflicting classifications of pathogenicity	Fabry disease, cardiac variant Fabry disease Cardiomyopathy Hypertrophic cardiomyopathy Fabry disease Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA021883	rs_199473684	15 SubmittersRCV000011515 RCV000154318 RCV000769537 RCV000844706 RCV000728949 RCV002362578
NM_000169.3(GLA):c.427G>C (p.Ala143Pro)	SNV Germline	ChrX:101401752	Pathogenic/Likely pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA021721	rs_104894845	7 SubmittersRCV000011516 RCV000157890
NM_000169.3(GLA):c.666C>A (p.Tyr222Ter)	SNV Germline	ChrX:101398920	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA021952	rs_104894851	4 SubmittersRCV000011517 RCV000730382
NM_000169.3(GLA):c.1228A>G (p.Thr410Ala)	SNV Germline	ChrX:101397871	Pathogenic	Fabry disease	Criteria Provided Single Submitter	CA021462	rs_104894852	2 SubmittersRCV000011518
NM_000169.3(GLA):c.815A>G (p.Asn272Ser)	SNV Germline	ChrX:101398554	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA022099	rs_28935495	3 SubmittersRCV000011521
NM_000169.3(GLA):c.334C>T (p.Arg112Cys)	SNV Germline	ChrX:101403846	Pathogenic	Condition: not provided Fabry disease Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA021639	rs_104894834	11 SubmittersRCV000482440 RCV000780291 RCV002321570
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr)	SNV Germline	ChrX:101397997	Conflicting classifications of pathogenicity	not specified Fabry disease Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA021399	rs_144994244	9 SubmittersRCV000035300 RCV000463728 RCV001507537 RCV002426548
NM_000169.3(GLA):c.352C>T (p.Arg118Cys)	SNV Germline	ChrX:101403828	Conflicting classifications of pathogenicity	not specified Fabry disease Condition: not provided Cardiovascular phenotype Cardiomyopathy	Criteria Provided Conflicting Classifications	CA021658	rs_148158093	23 SubmittersRCV000035303 RCV000078277 RCV000723556 RCV000619869 RCV000769541
NM_000169.3(GLA):c.48T>G (p.Leu16=)	SNV Germline	ChrX:101407856	Conflicting classifications of pathogenicity	not specified Fabry disease Hypertrophic cardiomyopathy Condition: not provided Cardiovascular phenotype GLA-related disorder	Criteria Provided Conflicting Classifications	CA021765	rs_201449986	16 SubmittersRCV000035304 RCV000391328 RCV000352576 RCV001703454 RCV002326722 RCV003944889
NM_000169.3(GLA):c.613C>A (p.Pro205Thr)	SNV Germline	ChrX:101400692	Pathogenic/Likely pathogenic	Fabry disease Condition: not provided Cardiomyopathy Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA021827	rs_397515870	7 SubmittersRCV000153322 RCV000723986 RCV000769540 RCV002354187
NM_000169.3(GLA):c.639+6A>C	SNV Germline	ChrX:101400660	Conflicting classifications of pathogenicity	not specified Fabry disease	Criteria Provided Conflicting Classifications	CA021876	rs_200096940	7 SubmittersRCV000035306 RCV001165639
NM_000169.3(GLA):c.70T>A (p.Trp24Arg)	SNV Germline	ChrX:101407834	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Fabry disease Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA021990	rs_397515871	9 SubmittersRCV000035308 RCV000769544 RCV001274530 RCV001703455 RCV002362615
NM_000169.3(GLA):c.714T>C (p.Ser238=)	SNV Germline	ChrX:101398872	Conflicting classifications of pathogenicity	not specified Condition: not provided Fabry disease Cardiovascular phenotype Cardiomyopathy GLA-related disorder	Criteria Provided Conflicting Classifications	CA022002	rs_397515872	9 SubmittersRCV000035309 RCV000735194 RCV001089401 RCV002362616 RCV003149615 RCV003924901
NM_000169.3(GLA):c.801+14C>T	SNV Germline	ChrX:101398771	Conflicting classifications of pathogenicity	not specified Fabry disease	Criteria Provided Conflicting Classifications	CA022068	rs_200744672	4 SubmittersRCV000035312 RCV002054556
NM_000169.3(GLA):c.8T>C (p.Leu3Pro)	SNV Germline	ChrX:101407896	Conflicting classifications of pathogenicity	not specified Migalastat response Fabry disease Cardiovascular phenotype Cardiomyopathy	Criteria Provided Conflicting Classifications	CA022172	rs_150547672	12 SubmittersRCV000035313 RCV000209183 RCV000209748 RCV000622119 RCV001798076
NM_000169.3(GLA):c.945C>T (p.Asp315=)	SNV Germline	ChrX:101398424	Conflicting classifications of pathogenicity	not specified Fabry disease Condition: not provided Cardiovascular phenotype GLA-related disorder	Criteria Provided Conflicting Classifications	CA022209	rs_151208856	16 SubmittersRCV000035315 RCV000557645 RCV000585389 RCV002371820 RCV003974871
NM_000169.3(GLA):c.119C>G (p.Pro40Arg)	SNV Germline	ChrX:101407785	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications	CA021455	rs_398123199	2 SubmittersRCV000078264 RCV003997194
NM_000169.3(GLA):c.125T>C (p.Met42Thr)	SNV Germline	ChrX:101407779	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA021500	rs_398123201	4 SubmittersRCV000078266 RCV000723538
NM_000169.3(GLA):c.146G>C (p.Arg49Pro)	SNV Germline	ChrX:101407758	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA021552	rs_398123205	2 SubmittersRCV000078270 RCV003509487
NM_000169.3(GLA):c.19G>T (p.Glu7Ter)	SNV Germline	ChrX:101407885	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA021598	rs_398123207	2 SubmittersRCV000078272 RCV002498376
NM_000169.3(GLA):c.242G>A (p.Trp81Ter)	SNV Germline	ChrX:101403938	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA021611	rs_398123208	3 SubmittersRCV000157886 RCV001807017
NM_000169.3(GLA):c.281G>A (p.Cys94Tyr)	SNV Germline	ChrX:101403899	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA021617	rs_113173389	2 SubmittersRCV000078274 RCV001854374
NM_000169.3(GLA):c.639+4A>T	SNV Germline	ChrX:101400662	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease GLA-related disorder	Criteria Provided Conflicting Classifications	CA021870	rs_398123215	3 SubmittersRCV000078286 RCV002498377 RCV003398668
NM_000169.3(GLA):c.647A>G (p.Tyr216Cys)	SNV Germline	ChrX:101398939	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA021931	rs_398123217	3 SubmittersRCV000078290 RCV000822976
NM_000169.3(GLA):c.734G>A (p.Trp245Ter)	SNV Germline	ChrX:101398852	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA022030	rs_398123220	4 SubmittersRCV000078295 RCV001193671
NM_000169.3(GLA):c.748C>T (p.Gln250Ter)	SNV Germline	ChrX:101398838	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA022045	rs_398123221	5 SubmittersRCV000078297 RCV000780290
NM_000169.3(GLA):c.865A>T (p.Ile289Phe)	SNV Germline	ChrX:101398504	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications	CA022134	rs_140329381	3 SubmittersRCV000078299 RCV003509488
NM_000169.3(GLA):c.899T>C (p.Leu300Pro)	SNV Germline	ChrX:101398470	Conflicting classifications of pathogenicity	Fabry disease Condition: not provided	Criteria Provided Conflicting Classifications	CA022159	rs_398123223	5 SubmittersRCV000078300 RCV000723759
NM_000169.3(GLA):c.901C>T (p.Arg301Ter)	SNV Germline	ChrX:101398468	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA022184	rs_398123224	7 SubmittersRCV000157879 RCV000781418
NM_000169.3(GLA):c.966C>G (p.Asp322Glu)	SNV Germline	ChrX:101398403	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA022225	rs_398123226	2 SubmittersRCV000078304 RCV002250557
NM_000169.3(GLA):c.973G>A (p.Gly325Ser)	SNV Germline	ChrX:101398396	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications	CA022231	rs_398123227	3 SubmittersRCV000078305 RCV001337760
NM_000169.3(GLA):c.974G>A (p.Gly325Asp)	SNV Germline	ChrX:101398395	Pathogenic/Likely pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA022237	rs_398123228	6 SubmittersRCV000078306 RCV000157881
NM_000169.3(GLA):c.386T>C (p.Leu129Pro)	SNV Germline	ChrX:101401793	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA021696	rs_727503072	3 SubmittersRCV000150748
NM_000169.3(GLA):c.376A>G (p.Ser126Gly)	SNV Germline	ChrX:101401803	Conflicting classifications of pathogenicity	not specified Fabry disease Cardiovascular phenotype Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA021691	rs_149391489	17 SubmittersRCV000150749 RCV000203179 RCV000621570 RCV000782202 RCV003149916
NM_000169.3(GLA):c.-8C>G	SNV Germline	ChrX:101407911	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Fabry disease GLA-related disorder	Criteria Provided Conflicting Classifications	CA022166	rs_371291716	6 SubmittersRCV000150752 RCV000769545 RCV000771895 RCV003945187
NM_000169.3(GLA):c.658C>T (p.Arg220Ter)	SNV Germline	ChrX:101398928	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA021936	rs_727503949	7 SubmittersRCV000153320 RCV000723942
NM_000169.3(GLA):c.593T>C (p.Ile198Thr)	SNV Germline	ChrX:101400712	Conflicting classifications of pathogenicity	Fabry disease Migalastat response Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA021809	rs_727503950	10 SubmittersRCV000153323 RCV000209729 RCV000723576 RCV002354357
NM_000169.3(GLA):c.619T>C (p.Tyr207His)	SNV Germline	ChrX:101400686	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease Cardiovascular phenotype GLA-related disorder	Criteria Provided Conflicting Classifications	CA021839	rs_372416832	10 SubmittersRCV000418558 RCV000798173 RCV002362805 RCV003415998
NM_001199973.2(RPL36A-HNRNPH2):c.300+3399C>T	SNV Germline	ChrX:101398856	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA022025	rs_727503948	2 SubmittersRCV000153319 RCV002516076
NM_000169.3(GLA):c.400T>G (p.Tyr134Asp)	SNV Germline	ChrX:101401779	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications	CA021702	rs_727503951	3 SubmittersRCV000153324 RCV000780292
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser)	SNV Germline	ChrX:101397982	Pathogenic/Likely pathogenic	Fabry disease Condition: not provided Fabry disease Hypertrophic cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA021403	rs_727504348	6 SubmittersRCV000154469 RCV000727357 RCV000844704
NM_000169.3(GLA):c.901C>G (p.Arg301Gly)	SNV Germline	ChrX:101398468	Conflicting classifications of pathogenicity	not specified Fabry disease Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA022178	rs_398123224	6 SubmittersRCV000156338 RCV000823627 RCV003298170 RCV003137679
NM_000169.3(GLA):c.320A>G (p.Gln107Arg)	SNV Germline	ChrX:101403860	Conflicting classifications of pathogenicity	not specified Fabry disease Condition: not provided	Criteria Provided Conflicting Classifications	CA021634	rs_727505060	5 SubmittersRCV000156492 RCV001188631 RCV001753546
NM_000169.3(GLA):c.758T>C (p.Ile253Thr)	SNV Germline	ChrX:101398828	Conflicting classifications of pathogenicity	not specified Migalastat response Fabry disease Condition: not provided	Criteria Provided Conflicting Classifications	CA022050	rs_727505292	5 SubmittersRCV000156824 RCV000209285 RCV000209022 RCV001781498
NM_000169.3(GLA):c.1229C>A (p.Thr410Lys)	SNV Germline	ChrX:101397870	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_730880442	1 SubmittersRCV001269207
NM_000169.3(GLA):c.1085C>T (p.Pro362Leu)	SNV Germline	ChrX:101398014	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications	CA021367	rs_730880441	5 SubmittersRCV000157883 RCV001807105
NM_000169.3(GLA):c.1019G>A (p.Trp340Ter)	SNV Germline	ChrX:101398080	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_730880440	1 SubmittersRCV003066348
NM_000169.3(GLA):c.991C>T (p.Leu331Phe)	SNV Germline	ChrX:101398378	Conflicting classifications of pathogenicity	not specified Fabry disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA022274	rs_730880437	7 SubmittersRCV000157874 RCV000590949 RCV002381511
NM_000169.3(GLA):c.961C>G (p.Gln321Glu)	SNV Germline	ChrX:101398408	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_730880439	1 SubmittersRCV001193045
NM_000169.3(GLA):c.847C>T (p.Gln283Ter)	SNV Germline	ChrX:101398522	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA022122	rs_730880452	4 SubmittersRCV000157902 RCV001807106
NM_000169.3(GLA):c.801G>A (p.Met267Ile)	SNV Germline	ChrX:101398785	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA022081	rs_730880451	5 SubmittersRCV000157900 RCV000627818
NM_000169.3(GLA):c.721A>G (p.Ser241Gly)	SNV Germline	ChrX:101398865	Conflicting classifications of pathogenicity	not specified Fabry disease	Criteria Provided Conflicting Classifications	CA022007	rs_730880438	2 SubmittersRCV000157877 RCV003509502
NM_000169.3(GLA):c.713G>A (p.Ser238Asn)	SNV Germline	ChrX:101398873	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA021996	rs_730880450	7 SubmittersRCV000157899 RCV000781420 RCV002362843
NM_000169.3(GLA):c.235G>T (p.Glu79Ter)	SNV Germline	ChrX:101403945	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_730880443	2 SubmittersRCV000733596 RCV002516375
NM_000169.3(GLA):c.41T>C (p.Leu14Pro)	SNV Germline	ChrX:101407863	Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_730880455	3 SubmittersRCV000734825 RCV001192396
NM_000169.3(GLA):c.124A>C (p.Met42Leu)	SNV Germline	ChrX:101407780	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA021494	rs_797044613	5 SubmittersRCV000235742 RCV000809963
NM_000169.3(GLA):c.369+1G>A	SNV Germline	ChrX:101403810	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA021668	rs_797044669	3 SubmittersRCV000175538 RCV001293581
NM_000169.3(GLA):c.469C>T (p.Gln157Ter)	SNV Germline	ChrX:101401710	Pathogenic	Condition: not provided Fabry disease Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA021741	rs_797044702	7 SubmittersRCV000302760 RCV001384489 RCV002326971
NM_000169.3(GLA):c.485G>A (p.Trp162Ter)	SNV Germline	ChrX:101401694	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA021753	rs_727504350	4 SubmittersRCV000176999 RCV000723475
NM_000169.3(GLA):c.661C>T (p.Gln221Ter)	SNV Germline	ChrX:101398925	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA021941	rs_797044747	4 SubmittersRCV000178724 RCV001036876
NM_000169.3(GLA):c.801+3A>G	SNV Germline	ChrX:101398782	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA022074	rs_797044748	3 SubmittersRCV000178725 RCV001194307
NM_000169.3(GLA):c.982G>C (p.Gly328Arg)	SNV Germline	ChrX:101398387	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA022260	rs_104894832	5 SubmittersRCV000179268 RCV000780293
NM_000169.3(GLA):c.1072G>A (p.Glu358Lys)	SNV Germline	ChrX:101398027	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA021353	rs_797044774	3 SubmittersRCV000179727 RCV001048991
NM_000169.3(GLA):c.1157A>C (p.Gln386Pro)	SNV Germline	ChrX:101397942	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA021426	rs_797044775	4 SubmittersRCV000179728 RCV000792067
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys)	SNV Germline	ChrX:101398012	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA021376	rs_797044776	10 SubmittersRCV000179729 RCV001249019
NM_000169.3(GLA):c.1176G>T (p.Arg392Ser)	SNV Germline	ChrX:101397923	Likely pathogenic; drug response	Migalastat response Fabry disease	No Assertion Criteria Provided	CA353026	rs_869312165	1 SubmittersRCV000209170 RCV000208905
NM_000169.3(GLA):c.1067G>C (p.Arg356Pro)	SNV Germline	ChrX:101398032	Pathogenic; drug response	Fabry disease Migalastat response	No Assertion Criteria Provided	CA353301	rs_869312163	1 SubmittersRCV000209490 RCV000209758
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly)	SNV Germline	ChrX:101398044	Conflicting classifications of pathogenicity	Migalastat response Fabry disease not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA353180	rs_869312162	11 SubmittersRCV000209219 RCV000209785 RCV000606004 RCV001589083
NM_000169.3(GLA):c.980A>T (p.Gln327Leu)	SNV Germline	ChrX:101398389	Pathogenic; drug response	Fabry disease Migalastat response	No Assertion Criteria Provided	CA353272	rs_869312160	1 SubmittersRCV000209419 RCV000209806
NM_000169.3(GLA):c.980A>G (p.Gln327Arg)	SNV Germline	ChrX:101398389	Pathogenic; drug response	Migalastat response Fabry disease	No Assertion Criteria Provided	CA353090	rs_869312160	1 SubmittersRCV000209037 RCV000209595
NM_000169.3(GLA):c.950T>G (p.Ile317Ser)	SNV Germline	ChrX:101398419	Pathogenic; drug response	Migalastat response Fabry disease	No Assertion Criteria Provided	CA353236	rs_869312158	1 SubmittersRCV000209621 RCV000209347
NM_000169.3(GLA):c.937G>A (p.Asp313Asn)	SNV Germline	ChrX:101398432	Conflicting classifications of pathogenicity	Fabry disease Migalastat response Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA089142	rs_28935490	4 SubmittersRCV000209154 RCV000209542 RCV002225504 RCV002372191
NM_000169.3(GLA):c.806T>G (p.Val269Gly)	SNV Germline	ChrX:101398563	Pathogenic; drug response	Fabry disease Migalastat response	No Assertion Criteria Provided	CA089038	rs_28935488	1 SubmittersRCV000209091 RCV000209357
NM_000169.3(GLA):c.784T>C (p.Trp262Arg)	SNV Germline	ChrX:101398802	Pathogenic; drug response	Fabry disease Migalastat response	No Assertion Criteria Provided	CA353257	rs_869312154	1 SubmittersRCV000209382 RCV000209767
NM_000169.3(GLA):c.761T>C (p.Val254Ala)	SNV Germline	ChrX:101398825	Likely pathogenic; drug response	Migalastat response Fabry disease	No Assertion Criteria Provided	CA353130	rs_869312153	1 SubmittersRCV000209113 RCV000209677
NM_000169.3(GLA):c.680G>C (p.Arg227Pro)	SNV Germline	ChrX:101398906	Pathogenic; drug response	Fabry disease Migalastat response	No Assertion Criteria Provided	CA089014	rs_104894840	1 SubmittersRCV000208950 RCV000209334
NM_000169.3(GLA):c.657C>G (p.Ile219Met)	SNV Germline	ChrX:101398929	Likely pathogenic; drug response	Migalastat response Fabry disease	No Assertion Criteria Provided	CA353134	rs_869312151	1 SubmittersRCV000209507 RCV000209122
NM_000169.3(GLA):c.638A>G (p.Lys213Arg)	SNV Germline	ChrX:101400667	Pathogenic; drug response	Fabry disease Migalastat response	No Assertion Criteria Provided	CA353146	rs_869312149	1 SubmittersRCV000209822 RCV000209142
NM_000169.3(GLA):c.610T>C (p.Trp204Arg)	SNV Germline	ChrX:101400695	Likely pathogenic	Fabry disease Migalastat response Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA353155	rs_869312148	3 SubmittersRCV000209164 RCV000209436 RCV000727338
NM_000169.3(GLA):c.561G>A (p.Met187Ile)	SNV Germline	ChrX:101400744	Pathogenic; drug response	Fabry disease Migalastat response	No Assertion Criteria Provided	CA353123	rs_869312146	1 SubmittersRCV000209103 RCV000209370
NM_000169.3(GLA):c.540G>T (p.Leu180Phe)	SNV Germline	ChrX:101401639	Conflicting classifications of pathogenicity	Migalastat response Fabry disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA353207	rs_869312145	3 SubmittersRCV000209663 RCV000209274 RCV002345718
NM_000169.3(GLA):c.337T>A (p.Phe113Ile)	SNV Germline	ChrX:101403843	Likely pathogenic; drug response	Migalastat response Fabry disease	No Assertion Criteria Provided	CA353045	rs_869312142	1 SubmittersRCV000208936 RCV000209492
NM_000169.3(GLA):c.272T>A (p.Ile91Asn)	SNV Germline	ChrX:101403908	Pathogenic; drug response	Fabry disease Migalastat response	No Assertion Criteria Provided	CA353184	rs_869312141	1 SubmittersRCV000209786 RCV000209224
NM_000169.3(GLA):c.256T>C (p.Tyr86His)	SNV Germline	ChrX:101403924	Pathogenic; drug response	Fabry disease Migalastat response	No Assertion Criteria Provided	CA353138	rs_869312140	1 SubmittersRCV000209126 RCV000209399
NM_000169.3(GLA):c.239G>A (p.Gly80Asp)	SNV Germline	ChrX:101403941	Conflicting classifications of pathogenicity	Fabry disease Migalastat response Condition: not provided not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA089420	rs_781838005	11 SubmittersRCV000209421 RCV000209815 RCV000732705 RCV000993846 RCV002444816
NM_000169.3(GLA):c.190A>T (p.Ile64Phe)	SNV Germline	ChrX:101407714	Pathogenic; drug response	Fabry disease Migalastat response	No Assertion Criteria Provided	CA353104	rs_869312139	1 SubmittersRCV000209059 RCV000209447
NM_000169.3(GLA):c.107T>G (p.Leu36Trp)	SNV Germline	ChrX:101407797	Pathogenic; drug response	Migalastat response Fabry disease	No Assertion Criteria Provided	CA353241	rs_869312138	1 SubmittersRCV000209629 RCV000209353
NM_000169.3(GLA):c.104G>A (p.Gly35Glu)	SNV Germline	ChrX:101407800	Pathogenic; drug response	Fabry disease Migalastat response	No Assertion Criteria Provided	CA353058	rs_869312137	1 SubmittersRCV000209648 RCV000208963
NM_000169.3(GLA):c.98A>G (p.Asp33Gly)	SNV Germline	ChrX:101407806	Pathogenic; drug response	Migalastat response Fabry disease	No Assertion Criteria Provided	CA353071	rs_869312136	1 SubmittersRCV000209255 RCV000208990
NM_000169.3(GLA):c.62T>C (p.Leu21Pro)	SNV Germline	ChrX:101407842	Likely pathogenic	Migalastat response Fabry disease	Criteria Provided Single Submitter	CA353214	rs_869312135	2 SubmittersRCV000209546 RCV000209283
NM_000169.3(GLA):c.59C>A (p.Ala20Asp)	SNV Germline	ChrX:101407845	Pathogenic/Likely pathogenic	Migalastat response Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA353016	rs_869312134	3 SubmittersRCV000208891 RCV000209573
NM_000169.3(GLA):c.1244T>C (p.Leu415Pro)	SNV Germline	ChrX:101397855	Pathogenic	Fabry disease	Criteria Provided Single Submitter	CA352271	rs_112341092	1 SubmittersRCV000587942
NM_000169.3(GLA):c.1118G>A (p.Gly373Asp)	SNV Germline	ChrX:101397981	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352566	rs_869312227	5 SubmittersRCV000236260 RCV001193638
NM_000169.3(GLA):c.1088G>A (p.Arg363His)	SNV Germline	ChrX:101398011	Conflicting classifications of pathogenicity	Fabry disease Condition: not provided	Criteria Provided Conflicting Classifications	CA029545	rs_111422676	15 SubmittersRCV000398396 RCV000724675
NM_000169.3(GLA):c.1079G>A (p.Gly360Asp)	SNV Germline	ChrX:101398020	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_782509013	1 SubmittersRCV002048087
NM_000169.3(GLA):c.1078G>C (p.Gly360Arg)	SNV Germline	ChrX:101398021	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications		rs_782598150	4 SubmittersRCV000728585 RCV002515537
NM_000169.3(GLA):c.1067G>A (p.Arg356Gln)	SNV Germline	ChrX:101398032	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA352982	rs_869312163	9 SubmittersRCV000734623 RCV000536023 RCV002408900 RCV003488463
NM_000169.3(GLA):c.1021G>A (p.Glu341Lys)	SNV Germline	ChrX:101398078	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312214	1 SubmittersRCV000781425
NM_000169.3(GLA):c.1000-1G>A	SNV Germline	ChrX:101398100	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_869312204	2 SubmittersRCV001389324 RCV003137794
NM_000169.3(GLA):c.1000-10G>A	SNV Germline	ChrX:101398109	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312203	1 SubmittersRCV000780297
NM_000169.3(GLA):c.966C>A (p.Asp322Glu)	SNV Germline	ChrX:101398403	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352266	rs_398123226	5 SubmittersRCV000367678 RCV000780289
NM_000169.3(GLA):c.902G>C (p.Arg301Pro)	SNV Germline	ChrX:101398467	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_104894828	1 SubmittersRCV001958657
NM_000169.3(GLA):c.887T>C (p.Met296Thr)	SNV Germline	ChrX:101398482	Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_869312442	2 SubmittersRCV000734829 RCV001853290
NM_000169.3(GLA):c.871G>A (p.Ala291Thr)	SNV Germline	ChrX:101398498	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312439	1 SubmittersRCV003066351
NM_000169.3(GLA):c.870G>C (p.Met290Ile)	SNV Germline	ChrX:101398499	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications		rs_869312438	6 SubmittersRCV000733247 RCV001280629
NM_000169.3(GLA):c.870G>A (p.Met290Ile)	SNV Germline	ChrX:101398499	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_869312438	4 SubmittersRCV001205029 RCV001781622
NM_000169.3(GLA):c.868A>C (p.Met290Leu)	SNV Germline	ChrX:101398501	Conflicting classifications of pathogenicity	Fabry disease Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA032305	rs_375538532	10 SubmittersRCV000545099 RCV000786316 RCV002372207
NM_000169.3(GLA):c.826A>G (p.Ser276Gly)	SNV Germline	ChrX:101398543	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_869312432	3 SubmittersRCV000729606 RCV000703679
NM_000169.3(GLA):c.818T>C (p.Phe273Ser)	SNV Germline	ChrX:101398551	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312430	1 SubmittersRCV001226443
NM_000169.3(GLA):c.805G>A (p.Val269Met)	SNV Germline	ChrX:101398564	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA352656	rs_869312427	3 SubmittersRCV000589129 RCV003137796
NM_000169.3(GLA):c.796G>A (p.Asp266Asn)	SNV Unknown	ChrX:101398790	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312407	1 SubmittersRCV003153189
NM_000169.3(GLA):c.790G>T (p.Asp264Tyr)	SNV Germline	ChrX:101398796	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA352389	rs_190347120	2 SubmittersRCV000589425 RCV003137795
NM_000169.3(GLA):c.782G>T (p.Gly261Val)	SNV Germline	ChrX:101398804	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_869312401	3 SubmittersRCV000780301
NM_000169.3(GLA):c.776C>G (p.Pro259Arg)	SNV Germline	ChrX:101398810	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA352614	rs_869312399	3 SubmittersRCV000593162 RCV000726800
NM_000169.3(GLA):c.755G>C (p.Arg252Thr)	SNV Germline	ChrX:101398831	Conflicting classifications of pathogenicity	Fabry disease GLA-related disorder Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_147026639	6 SubmittersRCV000771419 RCV003401113 RCV003372653
NM_000169.3(GLA):c.749A>C (p.Gln250Pro)	SNV Germline	ChrX:101398837	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter	CA352896	rs_869312396	1 SubmittersRCV000556577
NM_000169.3(GLA):c.671A>G (p.Asn224Ser)	SNV Germline	ChrX:101398915	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_869312383	2 SubmittersRCV001293630 RCV001781621
NM_000169.3(GLA):c.668G>A (p.Cys223Tyr)	SNV Germline	ChrX:101398918	Pathogenic/Likely pathogenic	Fabry disease Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_869312382	5 SubmittersRCV001194309 RCV001781620 RCV002363038
NM_000169.3(GLA):c.640-859C>T	SNV Germline	ChrX:101399805	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312374	1 SubmittersRCV003509074
NM_000169.3(GLA):c.611G>A (p.Trp204Ter)	SNV Germline	ChrX:101400694	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_869312346	2 SubmittersRCV003041469 RCV003156399
NM_000169.3(GLA):c.607G>A (p.Glu203Lys)	SNV Germline	ChrX:101400698	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications	CA352532	rs_869312345	3 SubmittersRCV000443793 RCV001237227
NM_000169.3(GLA):c.605G>A (p.Cys202Tyr)	SNV Germline	ChrX:101400700	Pathogenic/Likely pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA352703	rs_869312344	3 SubmittersRCV000359005 RCV000726225
NM_000169.3(GLA):c.559A>G (p.Met187Val)	SNV Germline	ChrX:101400746	Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_869312340	2 SubmittersRCV001782186 RCV003152770
NM_000169.3(GLA):c.547+1G>A	SNV Germline	ChrX:101401631	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312320	1 SubmittersRCV001970068
NM_000169.3(GLA):c.547G>A (p.Gly183Ser)	SNV Germline	ChrX:101401632	Pathogenic	Condition: not provided Fabry disease Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA352572	rs_869312324	4 SubmittersRCV000596939 RCV001260334 RCV002345746
NM_000169.3(GLA):c.515G>A (p.Cys172Tyr)	SNV Germline	ChrX:101401664	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_869312318	2 SubmittersRCV001783366 RCV002503264
NM_000169.3(GLA):c.511G>A (p.Gly171Ser)	SNV Germline	ChrX:101401668	Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_869312317	2 SubmittersRCV001781619 RCV001374747
NM_000169.3(GLA):c.370-1G>A	SNV Germline	ChrX:101401810	Pathogenic	Fabry disease	No Assertion Criteria Provided		rs_869312287	1 SubmittersRCV000011465
NM_000169.3(GLA):c.337T>C (p.Phe113Leu)	SNV Germline	ChrX:101403843	Pathogenic	Fabry disease Fabry disease, cardiac variant Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_869312142	8 SubmittersRCV000991314 RCV001636724 RCV001781617 RCV002453751
NM_000169.3(GLA):c.298A>T (p.Arg100Ter)	SNV Germline	ChrX:101403882	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312272	1 SubmittersRCV001224303
NM_000169.3(GLA):c.277G>A (p.Asp93Asn)	SNV Germline	ChrX:101403903	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312270	1 SubmittersRCV001220686
NM_000169.3(GLA):c.272T>C (p.Ile91Thr)	SNV Germline	ChrX:101403908	Pathogenic	Condition: not provided Fabry disease GLA-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_869312141	6 SubmittersRCV000732724 RCV001388247 RCV003417754
NM_000169.3(GLA):c.247G>A (p.Asp83Asn)	SNV Germline	ChrX:101403933	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA030449	rs_782722577	11 SubmittersRCV000596614 RCV000471970 RCV002426973
NM_000169.3(GLA):c.197A>G (p.Glu66Gly)	SNV Germline	ChrX:101403983	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications		rs_869312264	2 SubmittersRCV003487869 RCV003779245
NM_000169.3(GLA):c.194+1G>A	SNV Germline	ChrX:101407709	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_868966337	1 SubmittersRCV003509076
NM_000169.3(GLA):c.169C>T (p.Gln57Ter)	SNV Germline	ChrX:101407735	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_869312259	2 SubmittersRCV001194305
NM_000169.3(GLA):c.167G>A (p.Cys56Tyr)	SNV Germline	ChrX:101407737	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_869312258	2 SubmittersRCV001379650
NM_000169.3(GLA):c.153G>T (p.Met51Ile)	SNV Germline	ChrX:101407751	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312255	1 SubmittersRCV001193644
NM_000169.3(GLA):c.124A>G (p.Met42Val)	SNV Germline	ChrX:101407780	Pathogenic	Condition: not provided Fabry disease GLA-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_797044613	4 SubmittersRCV000727558 RCV001063224 RCV003907777
NM_000169.3(GLA):c.123C>T (p.Thr41=)	SNV Germline	ChrX:101407781	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Fabry disease Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA029830	rs_137902198	11 SubmittersRCV000430508 RCV000620993 RCV000771998 RCV000769543 RCV001311092
NM_000169.3(GLA):c.109G>A (p.Ala37Thr)	SNV Germline	ChrX:101407795	Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_869312226	2 SubmittersRCV001782190 RCV002034593
NM_000169.3(GLA):c.92C>T (p.Ala31Val)	SNV Germline	ChrX:101407812	Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_869312448	2 SubmittersRCV001293631
NM_000169.3(GLA):c.44C>A (p.Ala15Glu)	SNV Germline	ChrX:101407860	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312304	1 SubmittersRCV003041471
NM_000169.3(GLA):c.4C>T (p.Gln2Ter)	SNV Germline	ChrX:101407900	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312313	1 SubmittersRCV001293580
NM_000169.3(GLA):c.1A>G (p.Met1Val)	SNV Germline	ChrX:101407903	Pathogenic/Likely pathogenic	Condition: not provided Cardiovascular phenotype Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_869312265	3 SubmittersRCV001783375 RCV003375362 RCV003509694
NM_000169.3(GLA):c.-44C>T	SNV Germline	ChrX:101407947	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications		rs_781906252	4 SubmittersRCV000827826 RCV001828045
NM_000169.3(GLA):c.1229C>T (p.Thr410Ile)	SNV Germline	ChrX:101397870	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter	CA352414	rs_730880442	1 SubmittersRCV000208140
NM_000169.3(GLA):c.1225C>T (p.Pro409Ser)	SNV Germline	ChrX:101397874	Pathogenic/Likely pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10583928	rs_878853698	2 SubmittersRCV000226316 RCV000726826
NM_000169.3(GLA):c.707G>A (p.Trp236Ter)	SNV Germline	ChrX:101398879	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA10584628	rs_879254022	4 SubmittersRCV000235716 RCV000692369
NM_000169.3(GLA):c.596T>C (p.Val199Ala)	SNV Germline	ChrX:101400709	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications	CA031465	rs_781871113	7 SubmittersRCV000724981 RCV001229433
NM_000169.3(GLA):c.274G>T (p.Asp92Tyr)	SNV Germline	ChrX:101403906	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA10603399	rs_886041315	4 SubmittersRCV000348159 RCV001175033
NM_000169.3(GLA):c.830G>A (p.Trp277Ter)	SNV Germline	ChrX:101398539	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10603765	rs_886044766	4 SubmittersRCV000286285 RCV000723404
NM_000169.3(GLA):c.422C>T (p.Thr141Ile)	SNV Germline	ChrX:101401757	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA10605161	rs_886044843	5 SubmittersRCV000305413 RCV000781431
NM_000169.3(GLA):c.999+2T>C	SNV Germline	ChrX:101398368	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA10605590	rs_886044860	5 SubmittersRCV000317291 RCV000984268
NM_000169.3(GLA):c.614C>T (p.Pro205Leu)	SNV Germline	ChrX:101400691	Likely pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10606043	rs_886044879	3 SubmittersRCV000324526 RCV000726143
NM_000169.3(GLA):c.195-1G>T	SNV Germline	ChrX:101403986	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA10606581	rs_398123206	4 SubmittersRCV000291619 RCV000763197
NM_000169.3(GLA):c.244A>T (p.Lys82Ter)	SNV Unknown	ChrX:101403936	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter	CA16042047	rs_1057516429	1 SubmittersRCV000411879
NM_000169.3(GLA):c.1102G>C (p.Ala368Pro)	SNV Germline	ChrX:101397997	Conflicting classifications of pathogenicity	not specified Fabry disease Condition: not provided	Criteria Provided Conflicting Classifications	CA029647	rs_144994244	6 SubmittersRCV000418968 RCV000468186 RCV001507538
NM_000169.3(GLA):c.154T>C (p.Cys52Arg)	SNV Germline	ChrX:101407750	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA16609111	rs_1057521047	3 SubmittersRCV000424225 RCV001807250
NM_000169.3(GLA):c.735G>A (p.Trp245Ter)	SNV Germline	ChrX:101398851	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16616625	rs_1060500747	3 SubmittersRCV000475829 RCV000723440
NM_000169.3(GLA):c.326A>G (p.Asp109Gly)	SNV Germline	ChrX:101403854	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications	CA16621162	rs_1064794205	3 SubmittersRCV000484456 RCV002248700
NM_001195518.2(MICU1):c.355C>T (p.Arg119Ter)	SNV Germline	Chr10:72551317	Pathogenic	Condition: not provided Fabry disease Proximal myopathy with extrapyramidal signs	Criteria Provided Multiple Submitters No Conflicts	CA209804361	rs_538329212	3 SubmittersRCV000498673 RCV004525946 RCV004579549
NM_000169.3(GLA):c.456C>A (p.Tyr152Ter)	SNV Germline	ChrX:101401723	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA413929648	rs_1555985827	3 SubmittersRCV000542303 RCV000727447
NM_000169.3(GLA):c.265C>T (p.Leu89Phe)	SNV Germline	ChrX:101403915	Conflicting classifications of pathogenicity	Fabry disease Condition: not provided	Criteria Provided Conflicting Classifications	CA413933792	rs_1555986305	4 SubmittersRCV000525086 RCV000590425
NM_000169.3(GLA):c.476T>G (p.Phe159Cys)	SNV Germline	ChrX:101401703	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter	CA413929340	rs_1555985814	1 SubmittersRCV000554768
NM_000169.3(GLA):c.802-2A>T	SNV Germline	ChrX:101398569	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter	CA413923565	rs_797044499	1 SubmittersRCV000587754
NM_000169.3(GLA):c.1225C>G (p.Pro409Ala)	SNV Germline	ChrX:101397874	Pathogenic	Fabry disease	Criteria Provided Single Submitter	CA413919170	rs_878853698	1 SubmittersRCV000586514
NM_000169.3(GLA):c.1021G>T (p.Glu341Ter)	SNV Germline	ChrX:101398078	Pathogenic	Fabry disease	Criteria Provided Single Submitter	CA413921209	rs_869312214	1 SubmittersRCV000589205
NM_000169.3(GLA):c.2T>C (p.Met1Thr)	SNV Germline	ChrX:101407902	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413937947	rs_1555987232	5 SubmittersRCV000731977 RCV000586866
NM_000169.3(GLA):c.439G>A (p.Gly147Arg)	SNV Germline	ChrX:101401740	Pathogenic	Fabry disease	Criteria Provided Single Submitter	CA413929962	rs_1555985830	1 SubmittersRCV000589918
NM_000169.3(GLA):c.443G>A (p.Ser148Asn)	SNV Germline	ChrX:101401736	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA16602201	rs_1555985829	2 SubmittersRCV000597745 RCV001860148
NM_000169.3(GLA):c.861G>T (p.Trp287Cys)	SNV Germline	ChrX:101398508	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413922716	rs_104894839	2 SubmittersRCV000593774 RCV003509574
NM_000169.3(GLA):c.394G>A (p.Gly132Arg)	SNV Germline	ChrX:101401785	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413930675	rs_1555985855	3 SubmittersRCV000595439 RCV001854029
NM_000169.3(GLA):c.274G>A (p.Asp92Asn)	SNV Germline	ChrX:101403906	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA16616754	rs_886041315	2 SubmittersRCV000591773 RCV003509575
NM_000169.3(GLA):c.708G>T (p.Trp236Cys)	SNV Germline	ChrX:101398878	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413924684	rs_869312386	2 SubmittersRCV000597741 RCV002531083
NM_000169.3(GLA):c.1261A>G (p.Met421Val)	SNV Germline	ChrX:101397838	Conflicting classifications of pathogenicity	not specified Fabry disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA029880	rs_144060196	5 SubmittersRCV000609780 RCV001325331 RCV003302951
NM_000169.3(GLA):c.141G>C (p.Trp47Cys)	SNV Germline	ChrX:101407763	Conflicting classifications of pathogenicity	Fabry disease Condition: not provided	Criteria Provided Conflicting Classifications	CA413937045	rs_1555987101	2 SubmittersRCV000627817 RCV003488739
NM_000169.3(GLA):c.828C>A (p.Ser276Arg)	SNV Germline	ChrX:101398541	Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413923213	rs_1555985010	2 SubmittersRCV000627821
NM_000169.3(GLA):c.1018T>C (p.Trp340Arg)	SNV Germline	ChrX:101398081	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_1555984869	3 SubmittersRCV000657873 RCV001244524
NM_000169.3(GLA):c.1048G>A (p.Ala350Thr)	SNV Germline	ChrX:101398051	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications		rs_1555984843	2 SubmittersRCV000659174 RCV004004196
NM_000169.3(GLA):c.548G>A (p.Gly183Asp)	SNV Germline	ChrX:101400757	Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_398123212	3 SubmittersRCV000681892 RCV002477519
NM_000169.3(GLA):c.730G>C (p.Asp244His)	SNV Germline	ChrX:101398856	Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Single Submitter		rs_727503948	2 SubmittersRCV000681910 RCV002499207
NM_000169.3(GLA):c.748C>A (p.Gln250Lys)	SNV Germline	ChrX:101398838	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_398123221	1 SubmittersRCV000691947
NM_000169.3(GLA):c.525C>G (p.Asp175Glu)	SNV Germline	ChrX:101401654	Conflicting classifications of pathogenicity	Fabry disease Condition: not provided Cardiovascular phenotype GLA-related disorder	Criteria Provided Conflicting Classifications		rs_782722844	8 SubmittersRCV000695603 RCV001546911 RCV002334314 RCV003411618
NM_000169.3(GLA):c.692A>C (p.Asp231Ala)	SNV Germline	ChrX:101398894	Conflicting classifications of pathogenicity	Fabry disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_1569303295	3 SubmittersRCV000701032 RCV000788378
NM_000169.3(GLA):c.109G>C (p.Ala37Pro)	SNV Germline	ChrX:101407795	Pathogenic/Likely pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_869312226	3 SubmittersRCV000685810 RCV000734407
NM_000169.3(GLA):c.620A>C (p.Tyr207Ser)	SNV Germline	ChrX:101400685	Likely pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_797044727	3 SubmittersRCV000709851 RCV000728586
NM_000169.3(GLA):c.95T>C (p.Leu32Pro)	SNV Germline	ChrX:101407809	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_1569306168	3 SubmittersRCV000727580 RCV003509593
NM_000169.3(GLA):c.290C>T (p.Ala97Val)	SNV Germline	ChrX:101403890	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_1569304867	4 SubmittersRCV000729402 RCV000796776
NM_000169.3(GLA):c.254G>A (p.Gly85Asp)	SNV Germline	ChrX:101403926	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_1569304898	3 SubmittersRCV000730015 RCV001855746 RCV002424744
NM_000169.3(GLA):c.188G>A (p.Cys63Tyr)	SNV Germline	ChrX:101407716	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_1569306022	2 SubmittersRCV000730949 RCV002535181
NM_000169.3(GLA):c.254G>C (p.Gly85Ala)	SNV Germline	ChrX:101403926	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications		rs_1569304898	2 SubmittersRCV000732723 RCV001855691
NM_000169.3(GLA):c.640-1G>A	SNV Germline	ChrX:101398947	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_398123216	6 SubmittersRCV000781421 RCV000733701
NM_000169.3(GLA):c.402T>G (p.Tyr134Ter)	SNV Germline	ChrX:101401777	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_1183869568	3 SubmittersRCV000760339 RCV003479214
NM_000169.3(GLA):c.874G>C (p.Ala292Pro)	SNV Germline	ChrX:101398495	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_111812846	1 SubmittersRCV000781426
NM_000169.3(GLA):c.770C>T (p.Ala257Val)	SNV Germline	ChrX:101398816	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_1569303218	3 SubmittersRCV000781428
NM_000169.3(GLA):c.604T>C (p.Cys202Arg)	SNV Germline	ChrX:101400701	Conflicting classifications of pathogenicity	not specified Fabry disease	Criteria Provided Conflicting Classifications		rs_1569303843	3 SubmittersRCV000781419 RCV001039833
NM_000169.3(GLA):c.444T>G (p.Ser148Arg)	SNV Germline	ChrX:101401735	Pathogenic/Likely pathogenic	Fabry disease Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_1569304190	3 SubmittersRCV000781430 RCV003372841
NM_000169.3(GLA):c.404C>T (p.Ala135Val)	SNV Germline	ChrX:101401775	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_1569304221	3 SubmittersRCV000780295
NM_000169.3(GLA):c.307G>T (p.Glu103Ter)	SNV Germline	ChrX:101403873	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_1569304851	1 SubmittersRCV000781429
NM_000169.3(GLA):c.266T>G (p.Leu89Arg)	SNV Germline	ChrX:101403914	Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_1569304886	2 SubmittersRCV000781422
NM_000169.3(GLA):c.119C>T (p.Pro40Leu)	SNV Germline	ChrX:101407785	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_398123199	3 SubmittersRCV000781427
NM_000169.3(GLA):c.640-814T>C	SNV Germline	ChrX:101399760	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications		rs_1603040008	2 SubmittersRCV000788404 RCV003238213
NM_000169.3(GLA):c.695T>C (p.Ile232Thr)	SNV Germline	ChrX:101398891	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_797044749	4 SubmittersRCV001784443 RCV000817070 RCV002372311
NM_000169.3(GLA):c.520T>C (p.Cys174Arg)	SNV Germline	ChrX:101401659	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_181562693	1 SubmittersRCV000794754
NM_000169.3(GLA):c.476T>C (p.Phe159Ser)	SNV Unknown	ChrX:101401703	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_1555985814	1 SubmittersRCV000990920
NM_000169.3(GLA):c.950T>C (p.Ile317Thr)	SNV Germline	ChrX:101398419	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312158	1 SubmittersRCV001047256
NM_000169.3(GLA):c.889T>C (p.Ser297Pro)	SNV Germline	ChrX:101398480	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_1928167952	1 SubmittersRCV001041450
NM_000169.3(GLA):c.361G>C (p.Ala121Pro)	SNV Germline	ChrX:101403819	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_782197638	1 SubmittersRCV001041976
NM_000169.3(GLA):c.202C>T (p.Leu68Phe)	SNV Germline	ChrX:101403978	Pathogenic/Likely pathogenic	Fabry disease Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_1928411447	2 SubmittersRCV001060432 RCV002418513
NM_000169.3(GLA):c.26A>G (p.His9Arg)	SNV Germline	ChrX:101407878	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications		rs_1555987214	3 SubmittersRCV001090391 RCV001184278
NM_000153.4(GALC):c.830G>A (p.Ser277Asn)	SNV Germline	Chr14:87968413	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_1886145312	3 SubmittersRCV001250794 RCV004545052
NM_000169.3(GLA):c.295C>T (p.Gln99Ter)	SNV Germline	ChrX:101403885	Pathogenic	Fabry disease Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_868937910	2 SubmittersRCV001174740 RCV002436730
NM_000169.3(GLA):c.56T>C (p.Leu19Pro)	SNV Germline	ChrX:101407848	Conflicting classifications of pathogenicity	Fabry disease	Criteria Provided Conflicting Classifications		rs_1928592578	2 SubmittersRCV001174874
NM_000169.3(GLA):c.717A>G (p.Ile239Met)	SNV Germline	ChrX:101398869	Conflicting classifications of pathogenicity	Fabry disease	Criteria Provided Conflicting Classifications		rs_1928192530	4 SubmittersRCV001187084
NM_000169.3(GLA):c.585C>T (p.Gly195=)	SNV Germline	ChrX:101400720	Conflicting classifications of pathogenicity	Fabry disease	Criteria Provided Conflicting Classifications		rs_1928285510	2 SubmittersRCV001192310
NM_000169.3(GLA):c.802-10T>G	SNV Germline	ChrX:101398577	Conflicting classifications of pathogenicity	Fabry disease	Criteria Provided Conflicting Classifications		rs_1928176118	2 SubmittersRCV001187251
NM_000169.3(GLA):c.194+6A>G	SNV Germline	ChrX:101407704	Conflicting classifications of pathogenicity	Fabry disease	Criteria Provided Conflicting Classifications		rs_1463398466	2 SubmittersRCV001191152
NM_000169.3(GLA):c.1072G>T (p.Glu358Ter)	SNV Germline	ChrX:101398027	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_797044774	1 SubmittersRCV001193043
NM_000169.3(GLA):c.1045T>C (p.Trp349Arg)	SNV Germline	ChrX:101398054	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_1928137126	1 SubmittersRCV001193674
NM_000169.3(GLA):c.962A>G (p.Gln321Arg)	SNV Germline	ChrX:101398407	Pathogenic/Likely pathogenic	Fabry disease Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_1928161905	2 SubmittersRCV001193046 RCV002375120
NM_000169.3(GLA):c.894T>A (p.Asn298Lys)	SNV Germline	ChrX:101398475	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312444	1 SubmittersRCV001193068
NM_000169.3(GLA):c.851T>C (p.Met284Thr)	SNV Germline	ChrX:101398518	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_1928171557	2 SubmittersRCV001192393
NM_000169.3(GLA):c.751G>T (p.Glu251Ter)	SNV Germline	ChrX:101398835	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1928189534	2 SubmittersRCV001194304 RCV001780101
NM_000169.3(GLA):c.706T>C (p.Trp236Arg)	SNV Germline	ChrX:101398880	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_1555985148	1 SubmittersRCV001192394
NM_000169.3(GLA):c.688G>A (p.Ala230Thr)	SNV Germline	ChrX:101398898	Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_1928195468	2 SubmittersRCV001192395
NM_000169.3(GLA):c.406G>T (p.Asp136Tyr)	SNV Germline	ChrX:101401773	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_1928326804	1 SubmittersRCV001193641
NM_000169.3(GLA):c.154T>G (p.Cys52Gly)	SNV Germline	ChrX:101407750	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_1057521047	1 SubmittersRCV001193640
NM_000169.3(GLA):c.153G>A (p.Met51Ile)	SNV Germline	ChrX:101407751	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_869312255	3 SubmittersRCV001194306
NM_000169.3(GLA):c.128G>T (p.Gly43Val)	SNV Germline	ChrX:101407776	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_1928583820	1 SubmittersRCV001193639
NM_000169.3(GLA):c.801+1G>C	SNV Germline	ChrX:101398784	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_868923658	1 SubmittersRCV001193069
NM_000169.3(GLA):c.281G>T (p.Cys94Phe)	SNV Germline	ChrX:101403899	Conflicting classifications of pathogenicity	Fabry disease	Criteria Provided Conflicting Classifications		rs_113173389	2 SubmittersRCV001201250
NM_000169.3(GLA):c.413G>A (p.Gly138Glu)	SNV Germline	ChrX:101401766	Pathogenic/Likely pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1928326107	4 SubmittersRCV001217560 RCV001780137
NM_000169.3(GLA):c.431G>T (p.Gly144Val)	SNV Germline	ChrX:101401748	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_782085638	1 SubmittersRCV001206271
NM_000169.3(GLA):c.811G>A (p.Gly271Ser)	SNV Germline	ChrX:101398558	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_1928174707	1 SubmittersRCV001238670
NM_000169.3(GLA):c.646T>G (p.Tyr216Asp)	SNV Germline	ChrX:101398940	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_1928199003	1 SubmittersRCV001236826
NM_000169.3(GLA):c.782G>A (p.Gly261Asp)	SNV Germline	ChrX:101398804	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_869312401	2 SubmittersRCV001255564
NM_000169.3(GLA):c.350T>G (p.Ile117Ser)	SNV Germline	ChrX:101403830	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_12392549	1 SubmittersRCV001260301
NM_000169.3(GLA):c.500T>C (p.Leu167Pro)	SNV Germline	ChrX:101401679	Conflicting classifications of pathogenicity	Fabry disease	Criteria Provided Conflicting Classifications		rs_1928319806	2 SubmittersRCV001269208
NM_000169.3(GLA):c.1046G>A (p.Trp349Ter)	SNV Germline	ChrX:101398053	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_869312218	4 SubmittersRCV001280595 RCV002282509
NM_000169.3(GLA):c.136C>T (p.His46Tyr)	SNV Germline	ChrX:101407768	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_1928582757	1 SubmittersRCV001280630
NM_000169.3(GLA):c.1061T>A (p.Ile354Lys)	SNV Germline	ChrX:101398038	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_1928135337	3 SubmittersRCV001280904
NM_000169.3(GLA):c.890C>A (p.Ser297Tyr)	SNV Germline	ChrX:101398479	Conflicting classifications of pathogenicity	not specified Fabry disease	Criteria Provided Conflicting Classifications		rs_28935489	2 SubmittersRCV001290655 RCV002543011
NM_000169.3(GLA):c.275A>G (p.Asp92Gly)	SNV Germline	ChrX:101403905	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_1928406948	1 SubmittersRCV001290611
NM_000169.3(GLA):c.884T>G (p.Phe295Cys)	SNV Germline	ChrX:101398485	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_1928168711	1 SubmittersRCV001293628
NM_000169.3(GLA):c.550T>G (p.Tyr184Asp)	SNV Germline	ChrX:101400755	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_1928287649	1 SubmittersRCV001293627
NM_000169.3(GLA):c.412G>A (p.Gly138Arg)	SNV Germline	ChrX:101401767	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_1928326524	1 SubmittersRCV001293629
NM_000169.3(GLA):c.370-2A>C	SNV Germline	ChrX:101401811	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_730880444	2 SubmittersRCV001293592
NM_000169.3(GLA):c.1076T>C (p.Ile359Thr)	SNV Germline	ChrX:101398023	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_1928132914	1 SubmittersRCV001321822
NM_000169.3(GLA):c.242G>C (p.Trp81Ser)	SNV Germline	ChrX:101403938	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_398123208	1 SubmittersRCV001328356
NM_000169.3(GLA):c.454T>G (p.Tyr152Asp)	SNV Germline	ChrX:101401725	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_1928323615	1 SubmittersRCV001341700
NM_000169.3(GLA):c.800T>G (p.Met267Arg)	SNV Germline	ChrX:101398786	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312408	1 SubmittersRCV001358704
NM_000169.3(GLA):c.820G>C (p.Gly274Arg)	SNV Germline	ChrX:101398549	Conflicting classifications of pathogenicity	Fabry disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_2147472458	2 SubmittersRCV001368747 RCV003130507
NM_000169.3(GLA):c.924A>C (p.Lys308Asn)	SNV Germline	ChrX:101398445	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_2147472050	1 SubmittersRCV001374746
NM_000169.3(GLA):c.835C>T (p.Gln279Ter)	SNV Germline	ChrX:101398534	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_28935485	1 SubmittersRCV001374744
NM_000169.3(GLA):c.453C>G (p.Tyr151Ter)	SNV Germline	ChrX:101401726	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312305	1 SubmittersRCV001374743
NM_000169.3(GLA):c.280T>A (p.Cys94Ser)	SNV Germline	ChrX:101403900	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_2147480697	1 SubmittersRCV001374745
NM_000169.3(GLA):c.3G>A (p.Met1Ile)	SNV Germline	ChrX:101407901	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_2147487910	2 SubmittersRCV001375575
NM_000169.3(GLA):c.778G>A (p.Gly260Arg)	SNV Germline	ChrX:101398808	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_2147472959	1 SubmittersRCV001379079
NM_000169.3(GLA):c.1235C>T (p.Thr412Ile)	SNV Germline	ChrX:101397864	Pathogenic/Likely pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2147470514	2 SubmittersRCV001383502 RCV001780327
NM_000169.3(GLA):c.379A>T (p.Lys127Ter)	SNV Germline	ChrX:101401800	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_2147477845	3 SubmittersRCV001381526
NM_000169.3(GLA):c.369+2T>A	SNV Germline	ChrX:101403809	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_387906483	1 SubmittersRCV001388694
NM_000169.3(GLA):c.878C>T (p.Pro293Leu)	SNV Germline	ChrX:101398491	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312441	1 SubmittersRCV001391121
NM_000169.3(GLA):c.1101C>T (p.Ile367=)	SNV Germline	ChrX:101397998	Conflicting classifications of pathogenicity	Fabry disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_1928129537	3 SubmittersRCV001420000 RCV002432166
NM_000169.3(GLA):c.355C>T (p.Gln119Ter)	SNV Germline	ChrX:101403825	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_2147480438	2 SubmittersRCV001420835
NM_000169.3(GLA):c.1000-9G>A	SNV Germline	ChrX:101398108	Conflicting classifications of pathogenicity	Fabry disease	Criteria Provided Conflicting Classifications		rs_1928143594	2 SubmittersRCV001445108
NM_000169.3(GLA):c.192C>T (p.Ile64=)	SNV Germline	ChrX:101407712	Conflicting classifications of pathogenicity	Fabry disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_1555987080	2 SubmittersRCV001473670 RCV002414139
NM_000169.3(GLA):c.274G>C (p.Asp92His)	SNV Germline	ChrX:101403906	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_886041315	1 SubmittersRCV001553582
NM_000169.3(GLA):c.170A>C (p.Gln57Pro)	SNV Germline	ChrX:101407734	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312260	1 SubmittersRCV001563580
NM_000169.3(GLA):c.2T>A (p.Met1Lys)	SNV Germline	ChrX:101407902	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_1555987232	1 SubmittersRCV002246498
NM_000169.3(GLA):c.898C>T (p.Leu300Phe)	SNV Germline	ChrX:101398471	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications		rs_2147472132	2 SubmittersRCV001782185 RCV003509695
NM_000169.3(GLA):c.1028C>T (p.Pro343Leu)	SNV Germline	ChrX:101398071	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications		rs_1555984858	3 SubmittersRCV001782191 RCV001806264
NM_000169.3(GLA):c.674A>G (p.His225Arg)	SNV Germline	ChrX:101398912	Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_2147473301	2 SubmittersRCV001782193 RCV002541195
NM_000169.3(GLA):c.178C>T (p.Pro60Ser)	SNV Germline	ChrX:101407726	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_727504689	1 SubmittersRCV001784081
NM_000169.3(GLA):c.656T>C (p.Ile219Thr)	SNV Germline	ChrX:101398930	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_2147473404	1 SubmittersRCV001789804
NM_000169.3(GLA):c.486G>A (p.Trp162Ter)	SNV Germline	ChrX:101401693	Pathogenic/Likely pathogenic	Cardiomyopathy Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_869312311	2 SubmittersRCV001799418 RCV002503288
NM_000169.3(GLA):c.195-2A>G	SNV Germline	ChrX:101403987	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_2147480960	1 SubmittersRCV001815142
NM_000169.3(GLA):c.605G>C (p.Cys202Ser)	SNV Germline	ChrX:101400700	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312344	1 SubmittersRCV001990547
NM_000169.3(GLA):c.812G>T (p.Gly271Val)	SNV Germline	ChrX:101398557	Likely pathogenic	Fabry disease Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_869312429	2 SubmittersRCV002013540 RCV002423245
NM_000169.3(GLA):c.639+2T>C	SNV Germline	ChrX:101400664	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_2147475773	1 SubmittersRCV002013573
NM_000169.3(GLA):c.640-2A>G	SNV Germline	ChrX:101398948	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_2147473470	1 SubmittersRCV001921120
NM_000169.3(GLA):c.888G>T (p.Met296Ile)	SNV Germline	ChrX:101398481	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_104894846	2 SubmittersRCV001919968
NM_000169.3(GLA):c.1118G>T (p.Gly373Val)	SNV Germline	ChrX:101397981	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312227	1 SubmittersRCV001946593
NM_000169.3(GLA):c.127G>C (p.Gly43Arg)	SNV Germline	ChrX:101407777	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_886044906	1 SubmittersRCV001956188
NM_000169.3(GLA):c.338T>C (p.Phe113Ser)	SNV Germline	ChrX:101403842	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_2147480502	1 SubmittersRCV001963157
NM_000169.3(GLA):c.708G>A (p.Trp236Ter)	SNV Germline	ChrX:101398878	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312386	1 SubmittersRCV002250437
NM_000169.3(GLA):c.613C>G (p.Pro205Ala)	SNV Germline	ChrX:101400692	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications			2 SubmittersRCV002293713 RCV003097834
NM_000169.3(GLA):c.936G>C (p.Gln312His)	SNV Germline	ChrX:101398433	Pathogenic	Fabry disease	Criteria Provided Single Submitter			1 SubmittersRCV002293968
NM_000169.3(GLA):c.512G>A (p.Gly171Asp)	SNV Germline	ChrX:101401667	Likely pathogenic	Cardiovascular phenotype Fabry disease	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002344217 RCV003340486
NM_000169.3(GLA):c.47T>C (p.Leu16Pro)	SNV Germline	ChrX:101407857	Likely pathogenic	Cardiovascular phenotype Fabry disease	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002337874 RCV003096472
NM_000169.3(GLA):c.374A>T (p.His125Leu)	SNV Germline	ChrX:101401805	Pathogenic	Fabry disease	Criteria Provided Single Submitter			1 SubmittersRCV002471484
NM_000169.3(GLA):c.383G>A (p.Gly128Glu)	SNV Germline	ChrX:101401796	Pathogenic	Fabry disease	Criteria Provided Single Submitter			1 SubmittersRCV002471495
NM_000169.3(GLA):c.983G>A (p.Gly328Glu)	SNV Germline	ChrX:101398386	Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003066349
NM_000169.3(GLA):c.426C>A (p.Cys142Ter)	SNV Germline	ChrX:101401753	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003050638
NM_000169.3(GLA):c.358C>G (p.Leu120Val)	SNV Germline	ChrX:101403822	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter			1 SubmittersRCV003066353
NM_000169.3(GLA):c.227T>C (p.Met76Thr)	SNV Germline	ChrX:101403953	Conflicting classifications of pathogenicity	Fabry disease Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV003066355 RCV003491210
NM_000169.3(GLA):c.137A>C (p.His46Pro)	SNV Germline	ChrX:101407767	Likely pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003066356 RCV003491211
NM_000169.3(GLA):c.194+1G>T	SNV Germline	ChrX:101407709	Pathogenic	Fabry disease	Criteria Provided Single Submitter			1 SubmittersRCV003026559
NM_000169.3(GLA):c.779G>T (p.Gly260Val)	SNV Unknown	ChrX:101398807	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter			1 SubmittersRCV003153125
NM_000169.3(GLA):c.1168G>A (p.Val390Met)	SNV Germline	ChrX:101397931	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter			1 SubmittersRCV003317714
NM_000169.3(GLA):c.1133G>A (p.Cys378Tyr)	SNV Germline	ChrX:101397966	Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003335936
NM_000169.3(GLA):c.666C>G (p.Tyr222Ter)	SNV Unknown	ChrX:101398920	Pathogenic	Fabry disease	Criteria Provided Single Submitter			1 SubmittersRCV003484584
NM_000169.3(GLA):c.116C>G (p.Thr39Arg)	SNV Germline	ChrX:101407788	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter			1 SubmittersRCV003484242
NM_000169.3(GLA):c.908T>A (p.Ile303Asn)	SNV Germline	ChrX:101398461	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter			1 SubmittersRCV003509070
NM_000169.3(GLA):c.886A>T (p.Met296Leu)	SNV Germline	ChrX:101398483	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter			1 SubmittersRCV003509071
NM_000169.3(GLA):c.809T>C (p.Ile270Thr)	SNV Germline	ChrX:101398560	Pathogenic	Fabry disease	Criteria Provided Single Submitter			1 SubmittersRCV003509073
NM_000169.3(GLA):c.514T>C (p.Cys172Arg)	SNV Germline	ChrX:101401665	Pathogenic	Fabry disease	Criteria Provided Single Submitter			1 SubmittersRCV003509075
NM_000169.3(GLA):c.176A>T (p.Glu59Val)	SNV Germline	ChrX:101407728	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter			1 SubmittersRCV003622772
NM_000169.3(GLA):c.1165C>G (p.Pro389Ala)	SNV Germline	ChrX:101397934	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter			1 SubmittersRCV004015430
NM_000169.3(GLA):c.1145G>C (p.Cys382Ser)	SNV Germline	ChrX:101397954	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter			1 SubmittersRCV004549030
NM_000169.3(GLA):c.781G>T (p.Gly261Cys)	SNV Germline	ChrX:101398805	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter			1 SubmittersRCV004584265

NM_000169.3(GLA):c.1066C>T (p.Arg356Trp)

SNV
Germline

ChrX:101398033

Pathogenic

Fabry disease
Condition: not provided
GLA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA021340

rs_104894827

7 SubmittersRCV000011459 RCV001781217 RCV003398483

NM_000169.3(GLA):c.902G>A (p.Arg301Gln)

SNV
Germline

ChrX:101398467

Pathogenic

Fabry disease, cardiac variant
Fabry disease
Cardiovascular phenotype
Primary familial hypertrophic cardiomyopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA022189

rs_104894828

12 SubmittersRCV000011461 RCV000011462 RCV000244581 RCV000845380 RCV000723405

NM_000169.3(GLA):c.131G>A (p.Trp44Ter)

SNV
Germline

ChrX:101407773

Pathogenic

Fabry disease

No Assertion Criteria Provided

CA021519

rs_104894829

1 SubmittersRCV000011463

NM_000169.3(GLA):c.886A>G (p.Met296Val)

SNV
Germline

ChrX:101398483

Pathogenic/Likely pathogenic

Fabry disease, cardiac variant
Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA022141

rs_104894830

7 SubmittersRCV000011464 RCV000179267 RCV001185735

NM_000169.3(GLA):c.118C>T (p.Pro40Ser)

SNV
Germline

ChrX:101407786

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA021436

rs_104894831

5 SubmittersRCV000011466 RCV000729403

NM_000169.3(GLA):c.999+1G>T

SNV
Germline

ChrX:101398369

Pathogenic

Fabry disease

No Assertion Criteria Provided

rs_1603038103

1 SubmittersRCV000011467

NM_000169.3(GLA):c.835C>G (p.Gln279Glu)

SNV
Germline

ChrX:101398534

Likely pathogenic

Fabry disease, cardiac variant
Condition: not provided

Criteria Provided
Single Submitter

CA022117

rs_28935485

2 SubmittersRCV000011468 RCV001781218

NM_000169.3(GLA):c.982G>A (p.Gly328Arg)

SNV
Germline

ChrX:101398387

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Single Submitter

CA022255

rs_104894832

2 SubmittersRCV000011469 RCV000723846

NM_000169.3(GLA):c.196G>C (p.Glu66Gln)

SNV
Germline

ChrX:101403984

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Fabry disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA021590

rs_104894833

12 SubmittersRCV000150750 RCV000728539 RCV000822343 RCV003162613

NM_000169.3(GLA):c.101A>G (p.Asn34Ser)

SNV
Germline

ChrX:101407803

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA021300

rs_104894835

6 SubmittersRCV000011471 RCV000723530

NM_000169.3(GLA):c.166T>G (p.Cys56Gly)

SNV
Germline

ChrX:101407738

Pathogenic

Fabry disease

No Assertion Criteria Provided

CA021558

rs_104894836

1 SubmittersRCV000011472

NM_000169.3(GLA):c.466G>A (p.Ala156Thr)

SNV
Germline

ChrX:101401713

Pathogenic

Fabry disease

No Assertion Criteria Provided

CA021734

rs_28935195

1 SubmittersRCV000011474

NM_000169.3(GLA):c.484T>C (p.Trp162Arg)

SNV
Germline

ChrX:101401695

Pathogenic/Likely pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA021748

rs_28935196

3 SubmittersRCV000011475 RCV003137512

NM_000169.3(GLA):c.606T>G (p.Cys202Trp)

SNV
Germline

ChrX:101400699

Pathogenic

Fabry disease

No Assertion Criteria Provided

CA021821

rs_104894838

1 SubmittersRCV000011476

NM_000169.3(GLA):c.644A>G (p.Asn215Ser)

SNV
Germline

ChrX:101398942

Pathogenic

Fabry disease
Condition: not provided
Hypertrophic cardiomyopathy
Fabry disease
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA021924

rs_28935197

22 SubmittersRCV000011477 RCV000157896 RCV000844705 RCV000618059 RCV001798000

NM_000169.3(GLA):c.806T>C (p.Val269Ala)

SNV
Germline

ChrX:101398563

Pathogenic

Fabry disease

No Assertion Criteria Provided

CA022087

rs_28935488

1 SubmittersRCV000011482

NM_000169.3(GLA):c.680G>A (p.Arg227Gln)

SNV
Germline

ChrX:101398906

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA021972

rs_104894840

10 SubmittersRCV000011478 RCV000157898

NM_000169.3(GLA):c.679C>T (p.Arg227Ter)

SNV
Germline

ChrX:101398907

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA021963

rs_104894841

9 SubmittersRCV000011479 RCV000157897

NM_000169.3(GLA):c.791A>T (p.Asp264Val)

SNV
Germline

ChrX:101398795

Pathogenic/Likely pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA022056

rs_28935486

5 SubmittersRCV000011480 RCV000724649

NM_000169.3(GLA):c.797A>T (p.Asp266Val)

SNV
Germline

ChrX:101398789

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA022064

rs_28935487

4 SubmittersRCV000011481 RCV000733417

NM_000169.3(GLA):c.861G>A (p.Trp287Ter)

SNV
Germline

ChrX:101398508

Pathogenic

Fabry disease

No Assertion Criteria Provided

CA022128

rs_104894839

1 SubmittersRCV000011483

NM_000169.3(GLA):c.890C>T (p.Ser297Phe)

SNV
Germline

ChrX:101398479

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA022153

rs_28935489

2 SubmittersRCV000011484

NM_000169.3(GLA):c.979C>A (p.Gln327Lys)

SNV
Germline

ChrX:101398390

Pathogenic

Fabry disease

No Assertion Criteria Provided

CA022249

rs_28935491

1 SubmittersRCV000011487

NM_000169.3(GLA):c.983G>C (p.Gly328Ala)

SNV
Germline

ChrX:101398386

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA022267

rs_28935492

3 SubmittersRCV000011488 RCV000723545

NM_000169.3(GLA):c.1020G>A (p.Trp340Ter)

SNV
Germline

ChrX:101398079

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA021307

rs_104894842

5 SubmittersRCV000011489 RCV000727594

NM_000169.3(GLA):c.1025G>A (p.Arg342Gln)

SNV
Germline

ChrX:101398074

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA021326

rs_28935493

8 SubmittersRCV000011490 RCV000723455

NM_000169.3(GLA):c.1024C>T (p.Arg342Ter)

SNV
Germline

ChrX:101398075

Pathogenic

Fabry disease
Condition: not provided
GLA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA021320

rs_104894843

10 SubmittersRCV000011491 RCV000723730 RCV003398484

NM_000169.3(GLA):c.1081G>C (p.Gly361Arg)

SNV
Germline

ChrX:101398018

Pathogenic

Fabry disease

No Assertion Criteria Provided

CA021360

rs_28935494

1 SubmittersRCV000011492

NM_000169.3(GLA):c.1192G>T (p.Glu398Ter)

SNV
Germline

ChrX:101397907

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA021448

rs_104894844

2 SubmittersRCV000011493

NM_000169.3(GLA):c.369+2T>G

SNV
Germline

ChrX:101403809

Pathogenic

Fabry disease

No Assertion Criteria Provided

CA021675

rs_387906483

1 SubmittersRCV000011485

NM_000169.3(GLA):c.888G>A (p.Met296Ile)

SNV
Germline

ChrX:101398481

Pathogenic

Fabry disease, cardiac variant

No Assertion Criteria Provided

CA022146

rs_104894846

1 SubmittersRCV000011510

NM_000169.3(GLA):c.58G>C (p.Ala20Pro)

SNV
Germline

ChrX:101407846

Pathogenic

Fabry disease, cardiac variant

No Assertion Criteria Provided

CA021802

rs_104894847

1 SubmittersRCV000011511

NM_000169.3(GLA):c.194G>C (p.Ser65Thr)

SNV
Germline

ChrX:101407710

Pathogenic

Fabry disease

No Assertion Criteria Provided

CA021577

rs_104894848

1 SubmittersRCV000011513

NM_000169.3(GLA):c.1095T>A (p.Tyr365Ter)

SNV
Germline

ChrX:101398004

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Single Submitter

CA021385

rs_104894849

2 SubmittersRCV000011514 RCV001781220

NM_000169.3(GLA):c.640-801G>A

SNV
Germline

ChrX:101399747

Conflicting classifications of pathogenicity

Fabry disease, cardiac variant
Fabry disease
Cardiomyopathy
Hypertrophic cardiomyopathy
Fabry disease
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA021883

rs_199473684

15 SubmittersRCV000011515 RCV000154318 RCV000769537 RCV000844706 RCV000728949 RCV002362578

NM_000169.3(GLA):c.427G>C (p.Ala143Pro)

SNV
Germline

ChrX:101401752

Pathogenic/Likely pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA021721

rs_104894845

7 SubmittersRCV000011516 RCV000157890

NM_000169.3(GLA):c.666C>A (p.Tyr222Ter)

SNV
Germline

ChrX:101398920

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA021952

rs_104894851

4 SubmittersRCV000011517 RCV000730382

NM_000169.3(GLA):c.1228A>G (p.Thr410Ala)

SNV
Germline

ChrX:101397871

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA021462

rs_104894852

2 SubmittersRCV000011518

NM_000169.3(GLA):c.815A>G (p.Asn272Ser)

SNV
Germline

ChrX:101398554

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA022099

rs_28935495

3 SubmittersRCV000011521

NM_000169.3(GLA):c.334C>T (p.Arg112Cys)

SNV
Germline

ChrX:101403846

Pathogenic

Condition: not provided
Fabry disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA021639

rs_104894834

11 SubmittersRCV000482440 RCV000780291 RCV002321570

NM_000169.3(GLA):c.1102G>A (p.Ala368Thr)

SNV
Germline

ChrX:101397997

Conflicting classifications of pathogenicity

not specified
Fabry disease
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA021399

rs_144994244

9 SubmittersRCV000035300 RCV000463728 RCV001507537 RCV002426548

NM_000169.3(GLA):c.352C>T (p.Arg118Cys)

SNV
Germline

ChrX:101403828

Conflicting classifications of pathogenicity

not specified
Fabry disease
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA021658

rs_148158093

23 SubmittersRCV000035303 RCV000078277 RCV000723556 RCV000619869 RCV000769541

NM_000169.3(GLA):c.48T>G (p.Leu16=)

SNV
Germline

ChrX:101407856

Conflicting classifications of pathogenicity

not specified
Fabry disease
Hypertrophic cardiomyopathy
Condition: not provided
Cardiovascular phenotype
GLA-related disorder

Criteria Provided
Conflicting Classifications

CA021765

rs_201449986

16 SubmittersRCV000035304 RCV000391328 RCV000352576 RCV001703454 RCV002326722 RCV003944889

NM_000169.3(GLA):c.613C>A (p.Pro205Thr)

SNV
Germline

ChrX:101400692

Pathogenic/Likely pathogenic

Fabry disease
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA021827

rs_397515870

7 SubmittersRCV000153322 RCV000723986 RCV000769540 RCV002354187

NM_000169.3(GLA):c.639+6A>C

SNV
Germline

ChrX:101400660

Conflicting classifications of pathogenicity

not specified
Fabry disease

Criteria Provided
Conflicting Classifications

CA021876

rs_200096940

7 SubmittersRCV000035306 RCV001165639

NM_000169.3(GLA):c.70T>A (p.Trp24Arg)

SNV
Germline

ChrX:101407834

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Fabry disease
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA021990

rs_397515871

9 SubmittersRCV000035308 RCV000769544 RCV001274530 RCV001703455 RCV002362615

NM_000169.3(GLA):c.714T>C (p.Ser238=)

SNV
Germline

ChrX:101398872

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Fabry disease
Cardiovascular phenotype
Cardiomyopathy
GLA-related disorder

Criteria Provided
Conflicting Classifications

CA022002

rs_397515872

9 SubmittersRCV000035309 RCV000735194 RCV001089401 RCV002362616 RCV003149615 RCV003924901

NM_000169.3(GLA):c.801+14C>T

SNV
Germline

ChrX:101398771

Conflicting classifications of pathogenicity

not specified
Fabry disease

Criteria Provided
Conflicting Classifications

CA022068

rs_200744672

4 SubmittersRCV000035312 RCV002054556

NM_000169.3(GLA):c.8T>C (p.Leu3Pro)

SNV
Germline

ChrX:101407896

Conflicting classifications of pathogenicity

not specified
Migalastat response
Fabry disease
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA022172

rs_150547672

12 SubmittersRCV000035313 RCV000209183 RCV000209748 RCV000622119 RCV001798076

NM_000169.3(GLA):c.945C>T (p.Asp315=)

SNV
Germline

ChrX:101398424

Conflicting classifications of pathogenicity

not specified
Fabry disease
Condition: not provided
Cardiovascular phenotype
GLA-related disorder

Criteria Provided
Conflicting Classifications

CA022209

rs_151208856

16 SubmittersRCV000035315 RCV000557645 RCV000585389 RCV002371820 RCV003974871

NM_000169.3(GLA):c.119C>G (p.Pro40Arg)

SNV
Germline

ChrX:101407785

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

CA021455

rs_398123199

2 SubmittersRCV000078264 RCV003997194

NM_000169.3(GLA):c.125T>C (p.Met42Thr)

SNV
Germline

ChrX:101407779

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA021500

rs_398123201

4 SubmittersRCV000078266 RCV000723538

NM_000169.3(GLA):c.146G>C (p.Arg49Pro)

SNV
Germline

ChrX:101407758

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA021552

rs_398123205

2 SubmittersRCV000078270 RCV003509487

NM_000169.3(GLA):c.19G>T (p.Glu7Ter)

SNV
Germline

ChrX:101407885

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA021598

rs_398123207

2 SubmittersRCV000078272 RCV002498376

NM_000169.3(GLA):c.242G>A (p.Trp81Ter)

SNV
Germline

ChrX:101403938

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA021611

rs_398123208

3 SubmittersRCV000157886 RCV001807017

NM_000169.3(GLA):c.281G>A (p.Cys94Tyr)

SNV
Germline

ChrX:101403899

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA021617

rs_113173389

2 SubmittersRCV000078274 RCV001854374

NM_000169.3(GLA):c.639+4A>T

SNV
Germline

ChrX:101400662

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease
GLA-related disorder

Criteria Provided
Conflicting Classifications

CA021870

rs_398123215

3 SubmittersRCV000078286 RCV002498377 RCV003398668

NM_000169.3(GLA):c.647A>G (p.Tyr216Cys)

SNV
Germline

ChrX:101398939

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA021931

rs_398123217

3 SubmittersRCV000078290 RCV000822976

NM_000169.3(GLA):c.734G>A (p.Trp245Ter)

SNV
Germline

ChrX:101398852

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA022030

rs_398123220

4 SubmittersRCV000078295 RCV001193671

NM_000169.3(GLA):c.748C>T (p.Gln250Ter)

SNV
Germline

ChrX:101398838

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA022045

rs_398123221

5 SubmittersRCV000078297 RCV000780290

NM_000169.3(GLA):c.865A>T (p.Ile289Phe)

SNV
Germline

ChrX:101398504

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

CA022134

rs_140329381

3 SubmittersRCV000078299 RCV003509488

NM_000169.3(GLA):c.899T>C (p.Leu300Pro)

SNV
Germline

ChrX:101398470

Conflicting classifications of pathogenicity

Fabry disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA022159

rs_398123223

5 SubmittersRCV000078300 RCV000723759

NM_000169.3(GLA):c.901C>T (p.Arg301Ter)

SNV
Germline

ChrX:101398468

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA022184

rs_398123224

7 SubmittersRCV000157879 RCV000781418

NM_000169.3(GLA):c.966C>G (p.Asp322Glu)

SNV
Germline

ChrX:101398403

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA022225

rs_398123226

2 SubmittersRCV000078304 RCV002250557

NM_000169.3(GLA):c.973G>A (p.Gly325Ser)

SNV
Germline

ChrX:101398396

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

CA022231

rs_398123227

3 SubmittersRCV000078305 RCV001337760

NM_000169.3(GLA):c.974G>A (p.Gly325Asp)

SNV
Germline

ChrX:101398395

Pathogenic/Likely pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA022237

rs_398123228

6 SubmittersRCV000078306 RCV000157881

NM_000169.3(GLA):c.386T>C (p.Leu129Pro)

SNV
Germline

ChrX:101401793

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA021696

rs_727503072

3 SubmittersRCV000150748

NM_000169.3(GLA):c.376A>G (p.Ser126Gly)

SNV
Germline

ChrX:101401803

Conflicting classifications of pathogenicity

not specified
Fabry disease
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA021691

rs_149391489

17 SubmittersRCV000150749 RCV000203179 RCV000621570 RCV000782202 RCV003149916

NM_000169.3(GLA):c.-8C>G

SNV
Germline

ChrX:101407911

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Fabry disease
GLA-related disorder

Criteria Provided
Conflicting Classifications

CA022166

rs_371291716

6 SubmittersRCV000150752 RCV000769545 RCV000771895 RCV003945187

NM_000169.3(GLA):c.658C>T (p.Arg220Ter)

SNV
Germline

ChrX:101398928

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA021936

rs_727503949

7 SubmittersRCV000153320 RCV000723942

NM_000169.3(GLA):c.593T>C (p.Ile198Thr)

SNV
Germline

ChrX:101400712

Conflicting classifications of pathogenicity

Fabry disease
Migalastat response
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA021809

rs_727503950

10 SubmittersRCV000153323 RCV000209729 RCV000723576 RCV002354357

NM_000169.3(GLA):c.619T>C (p.Tyr207His)

SNV
Germline

ChrX:101400686

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease
Cardiovascular phenotype
GLA-related disorder

Criteria Provided
Conflicting Classifications

CA021839

rs_372416832

10 SubmittersRCV000418558 RCV000798173 RCV002362805 RCV003415998

NM_001199973.2(RPL36A-HNRNPH2):c.300+3399C>T

SNV
Germline

ChrX:101398856

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA022025

rs_727503948

2 SubmittersRCV000153319 RCV002516076

NM_000169.3(GLA):c.400T>G (p.Tyr134Asp)

SNV
Germline

ChrX:101401779

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

CA021702

rs_727503951

3 SubmittersRCV000153324 RCV000780292

NM_000169.3(GLA):c.1117G>A (p.Gly373Ser)

SNV
Germline

ChrX:101397982

Pathogenic/Likely pathogenic

Fabry disease
Condition: not provided
Fabry disease
Hypertrophic cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA021403

rs_727504348

6 SubmittersRCV000154469 RCV000727357 RCV000844704

NM_000169.3(GLA):c.901C>G (p.Arg301Gly)

SNV
Germline

ChrX:101398468

Conflicting classifications of pathogenicity

not specified
Fabry disease
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA022178

rs_398123224

6 SubmittersRCV000156338 RCV000823627 RCV003298170 RCV003137679

NM_000169.3(GLA):c.320A>G (p.Gln107Arg)

SNV
Germline

ChrX:101403860

Conflicting classifications of pathogenicity

not specified
Fabry disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA021634

rs_727505060

5 SubmittersRCV000156492 RCV001188631 RCV001753546

NM_000169.3(GLA):c.758T>C (p.Ile253Thr)

SNV
Germline

ChrX:101398828

Conflicting classifications of pathogenicity

not specified
Migalastat response
Fabry disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA022050

rs_727505292

5 SubmittersRCV000156824 RCV000209285 RCV000209022 RCV001781498

NM_000169.3(GLA):c.1229C>A (p.Thr410Lys)

SNV
Germline

ChrX:101397870

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_730880442

1 SubmittersRCV001269207

NM_000169.3(GLA):c.1085C>T (p.Pro362Leu)

SNV
Germline

ChrX:101398014

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

CA021367

rs_730880441

5 SubmittersRCV000157883 RCV001807105

NM_000169.3(GLA):c.1019G>A (p.Trp340Ter)

SNV
Germline

ChrX:101398080

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_730880440

1 SubmittersRCV003066348

NM_000169.3(GLA):c.991C>T (p.Leu331Phe)

SNV
Germline

ChrX:101398378

Conflicting classifications of pathogenicity

not specified
Fabry disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA022274

rs_730880437

7 SubmittersRCV000157874 RCV000590949 RCV002381511

NM_000169.3(GLA):c.961C>G (p.Gln321Glu)

SNV
Germline

ChrX:101398408

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_730880439

1 SubmittersRCV001193045

NM_000169.3(GLA):c.847C>T (p.Gln283Ter)

SNV
Germline

ChrX:101398522

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA022122

rs_730880452

4 SubmittersRCV000157902 RCV001807106

NM_000169.3(GLA):c.801G>A (p.Met267Ile)

SNV
Germline

ChrX:101398785

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA022081

rs_730880451

5 SubmittersRCV000157900 RCV000627818

NM_000169.3(GLA):c.721A>G (p.Ser241Gly)

SNV
Germline

ChrX:101398865

Conflicting classifications of pathogenicity

not specified
Fabry disease

Criteria Provided
Conflicting Classifications

CA022007

rs_730880438

2 SubmittersRCV000157877 RCV003509502

NM_000169.3(GLA):c.713G>A (p.Ser238Asn)

SNV
Germline

ChrX:101398873

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA021996

rs_730880450

7 SubmittersRCV000157899 RCV000781420 RCV002362843

NM_000169.3(GLA):c.235G>T (p.Glu79Ter)

SNV
Germline

ChrX:101403945

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_730880443

2 SubmittersRCV000733596 RCV002516375

NM_000169.3(GLA):c.41T>C (p.Leu14Pro)

SNV
Germline

ChrX:101407863

Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_730880455

3 SubmittersRCV000734825 RCV001192396

NM_000169.3(GLA):c.124A>C (p.Met42Leu)

SNV
Germline

ChrX:101407780

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA021494

rs_797044613

5 SubmittersRCV000235742 RCV000809963

NM_000169.3(GLA):c.369+1G>A

SNV
Germline

ChrX:101403810

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA021668

rs_797044669

3 SubmittersRCV000175538 RCV001293581

NM_000169.3(GLA):c.469C>T (p.Gln157Ter)

SNV
Germline

ChrX:101401710

Pathogenic

Condition: not provided
Fabry disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA021741

rs_797044702

7 SubmittersRCV000302760 RCV001384489 RCV002326971

NM_000169.3(GLA):c.485G>A (p.Trp162Ter)

SNV
Germline

ChrX:101401694

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA021753

rs_727504350

4 SubmittersRCV000176999 RCV000723475

NM_000169.3(GLA):c.661C>T (p.Gln221Ter)

SNV
Germline

ChrX:101398925

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA021941

rs_797044747

4 SubmittersRCV000178724 RCV001036876

NM_000169.3(GLA):c.801+3A>G

SNV
Germline

ChrX:101398782

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA022074

rs_797044748

3 SubmittersRCV000178725 RCV001194307

NM_000169.3(GLA):c.982G>C (p.Gly328Arg)

SNV
Germline

ChrX:101398387

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA022260

rs_104894832

5 SubmittersRCV000179268 RCV000780293

NM_000169.3(GLA):c.1072G>A (p.Glu358Lys)

SNV
Germline

ChrX:101398027

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA021353

rs_797044774

3 SubmittersRCV000179727 RCV001048991

NM_000169.3(GLA):c.1157A>C (p.Gln386Pro)

SNV
Germline

ChrX:101397942

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA021426

rs_797044775

4 SubmittersRCV000179728 RCV000792067

NM_000169.3(GLA):c.1087C>T (p.Arg363Cys)

SNV
Germline

ChrX:101398012

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA021376

rs_797044776

10 SubmittersRCV000179729 RCV001249019

NM_000169.3(GLA):c.1176G>T (p.Arg392Ser)

SNV
Germline

ChrX:101397923

Likely pathogenic; drug response

Migalastat response
Fabry disease

No Assertion Criteria Provided

CA353026

rs_869312165

1 SubmittersRCV000209170 RCV000208905

NM_000169.3(GLA):c.1067G>C (p.Arg356Pro)

SNV
Germline

ChrX:101398032

Pathogenic; drug response

Fabry disease
Migalastat response

No Assertion Criteria Provided

CA353301

rs_869312163

1 SubmittersRCV000209490 RCV000209758

NM_000169.3(GLA):c.1055C>G (p.Ala352Gly)

SNV
Germline

ChrX:101398044

Conflicting classifications of pathogenicity

Migalastat response
Fabry disease
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA353180

rs_869312162

11 SubmittersRCV000209219 RCV000209785 RCV000606004 RCV001589083

NM_000169.3(GLA):c.980A>T (p.Gln327Leu)

SNV
Germline

ChrX:101398389

Pathogenic; drug response

Fabry disease
Migalastat response

No Assertion Criteria Provided

CA353272

rs_869312160

1 SubmittersRCV000209419 RCV000209806

NM_000169.3(GLA):c.980A>G (p.Gln327Arg)

SNV
Germline

ChrX:101398389

Pathogenic; drug response

Migalastat response
Fabry disease

No Assertion Criteria Provided

CA353090

rs_869312160

1 SubmittersRCV000209037 RCV000209595

NM_000169.3(GLA):c.950T>G (p.Ile317Ser)

SNV
Germline

ChrX:101398419

Pathogenic; drug response

Migalastat response
Fabry disease

No Assertion Criteria Provided

CA353236

rs_869312158

1 SubmittersRCV000209621 RCV000209347

NM_000169.3(GLA):c.937G>A (p.Asp313Asn)

SNV
Germline

ChrX:101398432

Conflicting classifications of pathogenicity

Fabry disease
Migalastat response
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA089142

rs_28935490

4 SubmittersRCV000209154 RCV000209542 RCV002225504 RCV002372191

NM_000169.3(GLA):c.806T>G (p.Val269Gly)

SNV
Germline

ChrX:101398563

Pathogenic; drug response

Fabry disease
Migalastat response

No Assertion Criteria Provided

CA089038

rs_28935488

1 SubmittersRCV000209091 RCV000209357

NM_000169.3(GLA):c.784T>C (p.Trp262Arg)

SNV
Germline

ChrX:101398802

Pathogenic; drug response

Fabry disease
Migalastat response

No Assertion Criteria Provided

CA353257

rs_869312154

1 SubmittersRCV000209382 RCV000209767

NM_000169.3(GLA):c.761T>C (p.Val254Ala)

SNV
Germline

ChrX:101398825

Likely pathogenic; drug response

Migalastat response
Fabry disease

No Assertion Criteria Provided

CA353130

rs_869312153

1 SubmittersRCV000209113 RCV000209677

NM_000169.3(GLA):c.680G>C (p.Arg227Pro)

SNV
Germline

ChrX:101398906

Pathogenic; drug response

Fabry disease
Migalastat response

No Assertion Criteria Provided

CA089014

rs_104894840

1 SubmittersRCV000208950 RCV000209334

NM_000169.3(GLA):c.657C>G (p.Ile219Met)

SNV
Germline

ChrX:101398929

Likely pathogenic; drug response

Migalastat response
Fabry disease

No Assertion Criteria Provided

CA353134

rs_869312151

1 SubmittersRCV000209507 RCV000209122

NM_000169.3(GLA):c.638A>G (p.Lys213Arg)

SNV
Germline

ChrX:101400667

Pathogenic; drug response

Fabry disease
Migalastat response

No Assertion Criteria Provided

CA353146

rs_869312149

1 SubmittersRCV000209822 RCV000209142

NM_000169.3(GLA):c.610T>C (p.Trp204Arg)

SNV
Germline

ChrX:101400695

Likely pathogenic

Fabry disease
Migalastat response
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA353155

rs_869312148

3 SubmittersRCV000209164 RCV000209436 RCV000727338

NM_000169.3(GLA):c.561G>A (p.Met187Ile)

SNV
Germline

ChrX:101400744

Pathogenic; drug response

Fabry disease
Migalastat response

No Assertion Criteria Provided

CA353123

rs_869312146

1 SubmittersRCV000209103 RCV000209370

NM_000169.3(GLA):c.540G>T (p.Leu180Phe)

SNV
Germline

ChrX:101401639

Conflicting classifications of pathogenicity

Migalastat response
Fabry disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA353207

rs_869312145

3 SubmittersRCV000209663 RCV000209274 RCV002345718

NM_000169.3(GLA):c.337T>A (p.Phe113Ile)

SNV
Germline

ChrX:101403843

Likely pathogenic; drug response

Migalastat response
Fabry disease

No Assertion Criteria Provided

CA353045

rs_869312142

1 SubmittersRCV000208936 RCV000209492

NM_000169.3(GLA):c.272T>A (p.Ile91Asn)

SNV
Germline

ChrX:101403908

Pathogenic; drug response

Fabry disease
Migalastat response

No Assertion Criteria Provided

CA353184

rs_869312141

1 SubmittersRCV000209786 RCV000209224

NM_000169.3(GLA):c.256T>C (p.Tyr86His)

SNV
Germline

ChrX:101403924

Pathogenic; drug response

Fabry disease
Migalastat response

No Assertion Criteria Provided

CA353138

rs_869312140

1 SubmittersRCV000209126 RCV000209399

NM_000169.3(GLA):c.239G>A (p.Gly80Asp)

SNV
Germline

ChrX:101403941

Conflicting classifications of pathogenicity

Fabry disease
Migalastat response
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA089420

rs_781838005

11 SubmittersRCV000209421 RCV000209815 RCV000732705 RCV000993846 RCV002444816

NM_000169.3(GLA):c.190A>T (p.Ile64Phe)

SNV
Germline

ChrX:101407714

Pathogenic; drug response

Fabry disease
Migalastat response

No Assertion Criteria Provided

CA353104

rs_869312139

1 SubmittersRCV000209059 RCV000209447

NM_000169.3(GLA):c.107T>G (p.Leu36Trp)

SNV
Germline

ChrX:101407797

Pathogenic; drug response

Migalastat response
Fabry disease

No Assertion Criteria Provided

CA353241

rs_869312138

1 SubmittersRCV000209629 RCV000209353

NM_000169.3(GLA):c.104G>A (p.Gly35Glu)

SNV
Germline

ChrX:101407800

Pathogenic; drug response

Fabry disease
Migalastat response

No Assertion Criteria Provided

CA353058

rs_869312137

1 SubmittersRCV000209648 RCV000208963

NM_000169.3(GLA):c.98A>G (p.Asp33Gly)

SNV
Germline

ChrX:101407806

Pathogenic; drug response

Migalastat response
Fabry disease

No Assertion Criteria Provided

CA353071

rs_869312136

1 SubmittersRCV000209255 RCV000208990

NM_000169.3(GLA):c.62T>C (p.Leu21Pro)

SNV
Germline

ChrX:101407842

Likely pathogenic

Migalastat response
Fabry disease

Criteria Provided
Single Submitter

CA353214

rs_869312135

2 SubmittersRCV000209546 RCV000209283

NM_000169.3(GLA):c.59C>A (p.Ala20Asp)

SNV
Germline

ChrX:101407845

Pathogenic/Likely pathogenic

Migalastat response
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA353016

rs_869312134

3 SubmittersRCV000208891 RCV000209573

NM_000169.3(GLA):c.1244T>C (p.Leu415Pro)

SNV
Germline

ChrX:101397855

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA352271

rs_112341092

1 SubmittersRCV000587942

NM_000169.3(GLA):c.1118G>A (p.Gly373Asp)

SNV
Germline

ChrX:101397981

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352566

rs_869312227

5 SubmittersRCV000236260 RCV001193638

NM_000169.3(GLA):c.1088G>A (p.Arg363His)

SNV
Germline

ChrX:101398011

Conflicting classifications of pathogenicity

Fabry disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA029545

rs_111422676

15 SubmittersRCV000398396 RCV000724675

NM_000169.3(GLA):c.1079G>A (p.Gly360Asp)

SNV
Germline

ChrX:101398020

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_782509013

1 SubmittersRCV002048087

NM_000169.3(GLA):c.1078G>C (p.Gly360Arg)

SNV
Germline

ChrX:101398021

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

rs_782598150

4 SubmittersRCV000728585 RCV002515537

NM_000169.3(GLA):c.1067G>A (p.Arg356Gln)

SNV
Germline

ChrX:101398032

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA352982

rs_869312163

9 SubmittersRCV000734623 RCV000536023 RCV002408900 RCV003488463

NM_000169.3(GLA):c.1021G>A (p.Glu341Lys)

SNV
Germline

ChrX:101398078

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312214

1 SubmittersRCV000781425

NM_000169.3(GLA):c.1000-1G>A

SNV
Germline

ChrX:101398100

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_869312204

2 SubmittersRCV001389324 RCV003137794

NM_000169.3(GLA):c.1000-10G>A

SNV
Germline

ChrX:101398109

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312203

1 SubmittersRCV000780297

NM_000169.3(GLA):c.966C>A (p.Asp322Glu)

SNV
Germline

ChrX:101398403

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352266

rs_398123226

5 SubmittersRCV000367678 RCV000780289

NM_000169.3(GLA):c.902G>C (p.Arg301Pro)

SNV
Germline

ChrX:101398467

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_104894828

1 SubmittersRCV001958657

NM_000169.3(GLA):c.887T>C (p.Met296Thr)

SNV
Germline

ChrX:101398482

Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_869312442

2 SubmittersRCV000734829 RCV001853290

NM_000169.3(GLA):c.871G>A (p.Ala291Thr)

SNV
Germline

ChrX:101398498

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312439

1 SubmittersRCV003066351

NM_000169.3(GLA):c.870G>C (p.Met290Ile)

SNV
Germline

ChrX:101398499

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

rs_869312438

6 SubmittersRCV000733247 RCV001280629

NM_000169.3(GLA):c.870G>A (p.Met290Ile)

SNV
Germline

ChrX:101398499

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_869312438

4 SubmittersRCV001205029 RCV001781622

NM_000169.3(GLA):c.868A>C (p.Met290Leu)

SNV
Germline

ChrX:101398501

Conflicting classifications of pathogenicity

Fabry disease
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA032305

rs_375538532

10 SubmittersRCV000545099 RCV000786316 RCV002372207

NM_000169.3(GLA):c.826A>G (p.Ser276Gly)

SNV
Germline

ChrX:101398543

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_869312432

3 SubmittersRCV000729606 RCV000703679

NM_000169.3(GLA):c.818T>C (p.Phe273Ser)

SNV
Germline

ChrX:101398551

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312430

1 SubmittersRCV001226443

NM_000169.3(GLA):c.805G>A (p.Val269Met)

SNV
Germline

ChrX:101398564

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA352656

rs_869312427

3 SubmittersRCV000589129 RCV003137796

NM_000169.3(GLA):c.796G>A (p.Asp266Asn)

SNV
Unknown

ChrX:101398790

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312407

1 SubmittersRCV003153189

NM_000169.3(GLA):c.790G>T (p.Asp264Tyr)

SNV
Germline

ChrX:101398796

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA352389

rs_190347120

2 SubmittersRCV000589425 RCV003137795

NM_000169.3(GLA):c.782G>T (p.Gly261Val)

SNV
Germline

ChrX:101398804

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_869312401

3 SubmittersRCV000780301

NM_000169.3(GLA):c.776C>G (p.Pro259Arg)

SNV
Germline

ChrX:101398810

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA352614

rs_869312399

3 SubmittersRCV000593162 RCV000726800

NM_000169.3(GLA):c.755G>C (p.Arg252Thr)

SNV
Germline

ChrX:101398831

Conflicting classifications of pathogenicity

Fabry disease
GLA-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_147026639

6 SubmittersRCV000771419 RCV003401113 RCV003372653

NM_000169.3(GLA):c.749A>C (p.Gln250Pro)

SNV
Germline

ChrX:101398837

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA352896

rs_869312396

1 SubmittersRCV000556577

NM_000169.3(GLA):c.671A>G (p.Asn224Ser)

SNV
Germline

ChrX:101398915

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_869312383

2 SubmittersRCV001293630 RCV001781621

NM_000169.3(GLA):c.668G>A (p.Cys223Tyr)

SNV
Germline

ChrX:101398918

Pathogenic/Likely pathogenic

Fabry disease
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_869312382

5 SubmittersRCV001194309 RCV001781620 RCV002363038

NM_000169.3(GLA):c.640-859C>T

SNV
Germline

ChrX:101399805

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312374

1 SubmittersRCV003509074

NM_000169.3(GLA):c.611G>A (p.Trp204Ter)

SNV
Germline

ChrX:101400694

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_869312346

2 SubmittersRCV003041469 RCV003156399

NM_000169.3(GLA):c.607G>A (p.Glu203Lys)

SNV
Germline

ChrX:101400698

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

CA352532

rs_869312345

3 SubmittersRCV000443793 RCV001237227

NM_000169.3(GLA):c.605G>A (p.Cys202Tyr)

SNV
Germline

ChrX:101400700

Pathogenic/Likely pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA352703

rs_869312344

3 SubmittersRCV000359005 RCV000726225

NM_000169.3(GLA):c.559A>G (p.Met187Val)

SNV
Germline

ChrX:101400746

Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_869312340

2 SubmittersRCV001782186 RCV003152770

NM_000169.3(GLA):c.547+1G>A

SNV
Germline

ChrX:101401631

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312320

1 SubmittersRCV001970068

NM_000169.3(GLA):c.547G>A (p.Gly183Ser)

SNV
Germline

ChrX:101401632

Pathogenic

Condition: not provided
Fabry disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA352572

rs_869312324

4 SubmittersRCV000596939 RCV001260334 RCV002345746

NM_000169.3(GLA):c.515G>A (p.Cys172Tyr)

SNV
Germline

ChrX:101401664

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_869312318

2 SubmittersRCV001783366 RCV002503264

NM_000169.3(GLA):c.511G>A (p.Gly171Ser)

SNV
Germline

ChrX:101401668

Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_869312317

2 SubmittersRCV001781619 RCV001374747

NM_000169.3(GLA):c.370-1G>A

SNV
Germline

ChrX:101401810

Pathogenic

Fabry disease

No Assertion Criteria Provided

rs_869312287

1 SubmittersRCV000011465

NM_000169.3(GLA):c.337T>C (p.Phe113Leu)

SNV
Germline

ChrX:101403843

Pathogenic

Fabry disease
Fabry disease, cardiac variant
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_869312142

8 SubmittersRCV000991314 RCV001636724 RCV001781617 RCV002453751

NM_000169.3(GLA):c.298A>T (p.Arg100Ter)

SNV
Germline

ChrX:101403882

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312272

1 SubmittersRCV001224303

NM_000169.3(GLA):c.277G>A (p.Asp93Asn)

SNV
Germline

ChrX:101403903

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312270

1 SubmittersRCV001220686

NM_000169.3(GLA):c.272T>C (p.Ile91Thr)

SNV
Germline

ChrX:101403908

Pathogenic

Condition: not provided
Fabry disease
GLA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_869312141

6 SubmittersRCV000732724 RCV001388247 RCV003417754

NM_000169.3(GLA):c.247G>A (p.Asp83Asn)

SNV
Germline

ChrX:101403933

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA030449

rs_782722577

11 SubmittersRCV000596614 RCV000471970 RCV002426973

NM_000169.3(GLA):c.197A>G (p.Glu66Gly)

SNV
Germline

ChrX:101403983

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

rs_869312264

2 SubmittersRCV003487869 RCV003779245

NM_000169.3(GLA):c.194+1G>A

SNV
Germline

ChrX:101407709

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_868966337

1 SubmittersRCV003509076

NM_000169.3(GLA):c.169C>T (p.Gln57Ter)

SNV
Germline

ChrX:101407735

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_869312259

2 SubmittersRCV001194305

NM_000169.3(GLA):c.167G>A (p.Cys56Tyr)

SNV
Germline

ChrX:101407737

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_869312258

2 SubmittersRCV001379650

NM_000169.3(GLA):c.153G>T (p.Met51Ile)

SNV
Germline

ChrX:101407751

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312255

1 SubmittersRCV001193644

NM_000169.3(GLA):c.124A>G (p.Met42Val)

SNV
Germline

ChrX:101407780

Pathogenic

Condition: not provided
Fabry disease
GLA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_797044613

4 SubmittersRCV000727558 RCV001063224 RCV003907777

NM_000169.3(GLA):c.123C>T (p.Thr41=)

SNV
Germline

ChrX:101407781

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Fabry disease
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA029830

rs_137902198

11 SubmittersRCV000430508 RCV000620993 RCV000771998 RCV000769543 RCV001311092

NM_000169.3(GLA):c.109G>A (p.Ala37Thr)

SNV
Germline

ChrX:101407795

Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_869312226

2 SubmittersRCV001782190 RCV002034593

NM_000169.3(GLA):c.92C>T (p.Ala31Val)

SNV
Germline

ChrX:101407812

Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_869312448

2 SubmittersRCV001293631

NM_000169.3(GLA):c.44C>A (p.Ala15Glu)

SNV
Germline

ChrX:101407860

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312304

1 SubmittersRCV003041471

NM_000169.3(GLA):c.4C>T (p.Gln2Ter)

SNV
Germline

ChrX:101407900

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312313

1 SubmittersRCV001293580

NM_000169.3(GLA):c.1A>G (p.Met1Val)

SNV
Germline

ChrX:101407903

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_869312265

3 SubmittersRCV001783375 RCV003375362 RCV003509694

NM_000169.3(GLA):c.-44C>T

SNV
Germline

ChrX:101407947

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

rs_781906252

4 SubmittersRCV000827826 RCV001828045

NM_000169.3(GLA):c.1229C>T (p.Thr410Ile)

SNV
Germline

ChrX:101397870

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA352414

rs_730880442

1 SubmittersRCV000208140

NM_000169.3(GLA):c.1225C>T (p.Pro409Ser)

SNV
Germline

ChrX:101397874

Pathogenic/Likely pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10583928

rs_878853698

2 SubmittersRCV000226316 RCV000726826

NM_000169.3(GLA):c.707G>A (p.Trp236Ter)

SNV
Germline

ChrX:101398879

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA10584628

rs_879254022

4 SubmittersRCV000235716 RCV000692369

NM_000169.3(GLA):c.596T>C (p.Val199Ala)

SNV
Germline

ChrX:101400709

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

CA031465

rs_781871113

7 SubmittersRCV000724981 RCV001229433

NM_000169.3(GLA):c.274G>T (p.Asp92Tyr)

SNV
Germline

ChrX:101403906

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA10603399

rs_886041315

4 SubmittersRCV000348159 RCV001175033

NM_000169.3(GLA):c.830G>A (p.Trp277Ter)

SNV
Germline

ChrX:101398539

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10603765

rs_886044766

4 SubmittersRCV000286285 RCV000723404

NM_000169.3(GLA):c.422C>T (p.Thr141Ile)

SNV
Germline

ChrX:101401757

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA10605161

rs_886044843

5 SubmittersRCV000305413 RCV000781431

NM_000169.3(GLA):c.999+2T>C

SNV
Germline

ChrX:101398368

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA10605590

rs_886044860

5 SubmittersRCV000317291 RCV000984268

NM_000169.3(GLA):c.614C>T (p.Pro205Leu)

SNV
Germline

ChrX:101400691

Likely pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10606043

rs_886044879

3 SubmittersRCV000324526 RCV000726143

NM_000169.3(GLA):c.195-1G>T

SNV
Germline

ChrX:101403986

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA10606581

rs_398123206

4 SubmittersRCV000291619 RCV000763197

NM_000169.3(GLA):c.244A>T (p.Lys82Ter)

SNV
Unknown

ChrX:101403936

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA16042047

rs_1057516429

1 SubmittersRCV000411879

NM_000169.3(GLA):c.1102G>C (p.Ala368Pro)

SNV
Germline

ChrX:101397997

Conflicting classifications of pathogenicity

not specified
Fabry disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA029647

rs_144994244

6 SubmittersRCV000418968 RCV000468186 RCV001507538

NM_000169.3(GLA):c.154T>C (p.Cys52Arg)

SNV
Germline

ChrX:101407750

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA16609111

rs_1057521047

3 SubmittersRCV000424225 RCV001807250

NM_000169.3(GLA):c.735G>A (p.Trp245Ter)

SNV
Germline

ChrX:101398851

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16616625

rs_1060500747

3 SubmittersRCV000475829 RCV000723440

NM_000169.3(GLA):c.326A>G (p.Asp109Gly)

SNV
Germline

ChrX:101403854

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

CA16621162

rs_1064794205

3 SubmittersRCV000484456 RCV002248700

NM_001195518.2(MICU1):c.355C>T (p.Arg119Ter)

SNV
Germline

Chr10:72551317

Pathogenic

Condition: not provided
Fabry disease
Proximal myopathy with extrapyramidal signs

Criteria Provided
Multiple Submitters
No Conflicts

CA209804361

rs_538329212

3 SubmittersRCV000498673 RCV004525946 RCV004579549

NM_000169.3(GLA):c.456C>A (p.Tyr152Ter)

SNV
Germline

ChrX:101401723

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413929648

rs_1555985827

3 SubmittersRCV000542303 RCV000727447

NM_000169.3(GLA):c.265C>T (p.Leu89Phe)

SNV
Germline

ChrX:101403915

Conflicting classifications of pathogenicity

Fabry disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA413933792

rs_1555986305

4 SubmittersRCV000525086 RCV000590425

NM_000169.3(GLA):c.476T>G (p.Phe159Cys)

SNV
Germline

ChrX:101401703

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA413929340

rs_1555985814

1 SubmittersRCV000554768

NM_000169.3(GLA):c.802-2A>T

SNV
Germline

ChrX:101398569

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA413923565

rs_797044499

1 SubmittersRCV000587754

NM_000169.3(GLA):c.1225C>G (p.Pro409Ala)

SNV
Germline

ChrX:101397874

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA413919170

rs_878853698

1 SubmittersRCV000586514

NM_000169.3(GLA):c.1021G>T (p.Glu341Ter)

SNV
Germline

ChrX:101398078

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA413921209

rs_869312214

1 SubmittersRCV000589205

NM_000169.3(GLA):c.2T>C (p.Met1Thr)

SNV
Germline

ChrX:101407902

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413937947

rs_1555987232

5 SubmittersRCV000731977 RCV000586866

NM_000169.3(GLA):c.439G>A (p.Gly147Arg)

SNV
Germline

ChrX:101401740

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA413929962

rs_1555985830

1 SubmittersRCV000589918

NM_000169.3(GLA):c.443G>A (p.Ser148Asn)

SNV
Germline

ChrX:101401736

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA16602201

rs_1555985829

2 SubmittersRCV000597745 RCV001860148

NM_000169.3(GLA):c.861G>T (p.Trp287Cys)

SNV
Germline

ChrX:101398508

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413922716

rs_104894839

2 SubmittersRCV000593774 RCV003509574

NM_000169.3(GLA):c.394G>A (p.Gly132Arg)

SNV
Germline

ChrX:101401785

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413930675

rs_1555985855

3 SubmittersRCV000595439 RCV001854029

NM_000169.3(GLA):c.274G>A (p.Asp92Asn)

SNV
Germline

ChrX:101403906

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA16616754

rs_886041315

2 SubmittersRCV000591773 RCV003509575

NM_000169.3(GLA):c.708G>T (p.Trp236Cys)

SNV
Germline

ChrX:101398878

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413924684

rs_869312386

2 SubmittersRCV000597741 RCV002531083

NM_000169.3(GLA):c.1261A>G (p.Met421Val)

SNV
Germline

ChrX:101397838

Conflicting classifications of pathogenicity

not specified
Fabry disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA029880

rs_144060196

5 SubmittersRCV000609780 RCV001325331 RCV003302951

NM_000169.3(GLA):c.141G>C (p.Trp47Cys)

SNV
Germline

ChrX:101407763

Conflicting classifications of pathogenicity

Fabry disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA413937045

rs_1555987101

2 SubmittersRCV000627817 RCV003488739

NM_000169.3(GLA):c.828C>A (p.Ser276Arg)

SNV
Germline

ChrX:101398541

Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413923213

rs_1555985010

2 SubmittersRCV000627821

NM_000169.3(GLA):c.1018T>C (p.Trp340Arg)

SNV
Germline

ChrX:101398081

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555984869

3 SubmittersRCV000657873 RCV001244524

NM_000169.3(GLA):c.1048G>A (p.Ala350Thr)

SNV
Germline

ChrX:101398051

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

rs_1555984843

2 SubmittersRCV000659174 RCV004004196

NM_000169.3(GLA):c.548G>A (p.Gly183Asp)

SNV
Germline

ChrX:101400757

Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_398123212

3 SubmittersRCV000681892 RCV002477519

NM_000169.3(GLA):c.730G>C (p.Asp244His)

SNV
Germline

ChrX:101398856

Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Single Submitter

rs_727503948

2 SubmittersRCV000681910 RCV002499207

NM_000169.3(GLA):c.748C>A (p.Gln250Lys)

SNV
Germline

ChrX:101398838

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_398123221

1 SubmittersRCV000691947

NM_000169.3(GLA):c.525C>G (p.Asp175Glu)

SNV
Germline

ChrX:101401654

Conflicting classifications of pathogenicity

Fabry disease
Condition: not provided
Cardiovascular phenotype
GLA-related disorder

Criteria Provided
Conflicting Classifications

rs_782722844

8 SubmittersRCV000695603 RCV001546911 RCV002334314 RCV003411618

NM_000169.3(GLA):c.692A>C (p.Asp231Ala)

SNV
Germline

ChrX:101398894

Conflicting classifications of pathogenicity

Fabry disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1569303295

3 SubmittersRCV000701032 RCV000788378

NM_000169.3(GLA):c.109G>C (p.Ala37Pro)

SNV
Germline

ChrX:101407795

Pathogenic/Likely pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_869312226

3 SubmittersRCV000685810 RCV000734407

NM_000169.3(GLA):c.620A>C (p.Tyr207Ser)

SNV
Germline

ChrX:101400685

Likely pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_797044727

3 SubmittersRCV000709851 RCV000728586

NM_000169.3(GLA):c.95T>C (p.Leu32Pro)

SNV
Germline

ChrX:101407809

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569306168

3 SubmittersRCV000727580 RCV003509593

NM_000169.3(GLA):c.290C>T (p.Ala97Val)

SNV
Germline

ChrX:101403890

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569304867

4 SubmittersRCV000729402 RCV000796776

NM_000169.3(GLA):c.254G>A (p.Gly85Asp)

SNV
Germline

ChrX:101403926

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569304898

3 SubmittersRCV000730015 RCV001855746 RCV002424744

NM_000169.3(GLA):c.188G>A (p.Cys63Tyr)

SNV
Germline

ChrX:101407716

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569306022

2 SubmittersRCV000730949 RCV002535181

NM_000169.3(GLA):c.254G>C (p.Gly85Ala)

SNV
Germline

ChrX:101403926

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

rs_1569304898

2 SubmittersRCV000732723 RCV001855691

NM_000169.3(GLA):c.640-1G>A

SNV
Germline

ChrX:101398947

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_398123216

6 SubmittersRCV000781421 RCV000733701

NM_000169.3(GLA):c.402T>G (p.Tyr134Ter)

SNV
Germline

ChrX:101401777

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1183869568

3 SubmittersRCV000760339 RCV003479214

NM_000169.3(GLA):c.874G>C (p.Ala292Pro)

SNV
Germline

ChrX:101398495

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_111812846

1 SubmittersRCV000781426

NM_000169.3(GLA):c.770C>T (p.Ala257Val)

SNV
Germline

ChrX:101398816

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569303218

3 SubmittersRCV000781428

NM_000169.3(GLA):c.604T>C (p.Cys202Arg)

SNV
Germline

ChrX:101400701

Conflicting classifications of pathogenicity

not specified
Fabry disease

Criteria Provided
Conflicting Classifications

rs_1569303843

3 SubmittersRCV000781419 RCV001039833

NM_000169.3(GLA):c.444T>G (p.Ser148Arg)

SNV
Germline

ChrX:101401735

Pathogenic/Likely pathogenic

Fabry disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569304190

3 SubmittersRCV000781430 RCV003372841

NM_000169.3(GLA):c.404C>T (p.Ala135Val)

SNV
Germline

ChrX:101401775

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569304221

3 SubmittersRCV000780295

NM_000169.3(GLA):c.307G>T (p.Glu103Ter)

SNV
Germline

ChrX:101403873

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_1569304851

1 SubmittersRCV000781429

NM_000169.3(GLA):c.266T>G (p.Leu89Arg)

SNV
Germline

ChrX:101403914

Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569304886

2 SubmittersRCV000781422

NM_000169.3(GLA):c.119C>T (p.Pro40Leu)

SNV
Germline

ChrX:101407785

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_398123199

3 SubmittersRCV000781427

NM_000169.3(GLA):c.640-814T>C

SNV
Germline

ChrX:101399760

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

rs_1603040008

2 SubmittersRCV000788404 RCV003238213

NM_000169.3(GLA):c.695T>C (p.Ile232Thr)

SNV
Germline

ChrX:101398891

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_797044749

4 SubmittersRCV001784443 RCV000817070 RCV002372311

NM_000169.3(GLA):c.520T>C (p.Cys174Arg)

SNV
Germline

ChrX:101401659

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_181562693

1 SubmittersRCV000794754

NM_000169.3(GLA):c.476T>C (p.Phe159Ser)

SNV
Unknown

ChrX:101401703

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_1555985814

1 SubmittersRCV000990920

NM_000169.3(GLA):c.950T>C (p.Ile317Thr)

SNV
Germline

ChrX:101398419

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312158

1 SubmittersRCV001047256

NM_000169.3(GLA):c.889T>C (p.Ser297Pro)

SNV
Germline

ChrX:101398480

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_1928167952

1 SubmittersRCV001041450

NM_000169.3(GLA):c.361G>C (p.Ala121Pro)

SNV
Germline

ChrX:101403819

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_782197638

1 SubmittersRCV001041976

NM_000169.3(GLA):c.202C>T (p.Leu68Phe)

SNV
Germline

ChrX:101403978

Pathogenic/Likely pathogenic

Fabry disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_1928411447

2 SubmittersRCV001060432 RCV002418513

NM_000169.3(GLA):c.26A>G (p.His9Arg)

SNV
Germline

ChrX:101407878

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

rs_1555987214

3 SubmittersRCV001090391 RCV001184278

NM_000153.4(GALC):c.830G>A (p.Ser277Asn)

SNV
Germline

Chr14:87968413

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1886145312

3 SubmittersRCV001250794 RCV004545052

NM_000169.3(GLA):c.295C>T (p.Gln99Ter)

SNV
Germline

ChrX:101403885

Pathogenic

Fabry disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_868937910

2 SubmittersRCV001174740 RCV002436730

NM_000169.3(GLA):c.56T>C (p.Leu19Pro)

SNV
Germline

ChrX:101407848

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

rs_1928592578

2 SubmittersRCV001174874

NM_000169.3(GLA):c.717A>G (p.Ile239Met)

SNV
Germline

ChrX:101398869

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

rs_1928192530

4 SubmittersRCV001187084

NM_000169.3(GLA):c.585C>T (p.Gly195=)

SNV
Germline

ChrX:101400720

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

rs_1928285510

2 SubmittersRCV001192310

NM_000169.3(GLA):c.802-10T>G

SNV
Germline

ChrX:101398577

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

rs_1928176118

2 SubmittersRCV001187251

NM_000169.3(GLA):c.194+6A>G

SNV
Germline

ChrX:101407704

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

rs_1463398466

2 SubmittersRCV001191152

NM_000169.3(GLA):c.1072G>T (p.Glu358Ter)

SNV
Germline

ChrX:101398027

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_797044774

1 SubmittersRCV001193043

NM_000169.3(GLA):c.1045T>C (p.Trp349Arg)

SNV
Germline

ChrX:101398054

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_1928137126

1 SubmittersRCV001193674

NM_000169.3(GLA):c.962A>G (p.Gln321Arg)

SNV
Germline

ChrX:101398407

Pathogenic/Likely pathogenic

Fabry disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_1928161905

2 SubmittersRCV001193046 RCV002375120

NM_000169.3(GLA):c.894T>A (p.Asn298Lys)

SNV
Germline

ChrX:101398475

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312444

1 SubmittersRCV001193068

NM_000169.3(GLA):c.851T>C (p.Met284Thr)

SNV
Germline

ChrX:101398518

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1928171557

2 SubmittersRCV001192393

NM_000169.3(GLA):c.751G>T (p.Glu251Ter)

SNV
Germline

ChrX:101398835

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1928189534

2 SubmittersRCV001194304 RCV001780101

NM_000169.3(GLA):c.706T>C (p.Trp236Arg)

SNV
Germline

ChrX:101398880

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_1555985148

1 SubmittersRCV001192394

NM_000169.3(GLA):c.688G>A (p.Ala230Thr)

SNV
Germline

ChrX:101398898

Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1928195468

2 SubmittersRCV001192395

NM_000169.3(GLA):c.406G>T (p.Asp136Tyr)

SNV
Germline

ChrX:101401773

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_1928326804

1 SubmittersRCV001193641

NM_000169.3(GLA):c.154T>G (p.Cys52Gly)

SNV
Germline

ChrX:101407750

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_1057521047

1 SubmittersRCV001193640

NM_000169.3(GLA):c.153G>A (p.Met51Ile)

SNV
Germline

ChrX:101407751

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_869312255

3 SubmittersRCV001194306

NM_000169.3(GLA):c.128G>T (p.Gly43Val)

SNV
Germline

ChrX:101407776

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_1928583820

1 SubmittersRCV001193639

NM_000169.3(GLA):c.801+1G>C

SNV
Germline

ChrX:101398784

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_868923658

1 SubmittersRCV001193069

NM_000169.3(GLA):c.281G>T (p.Cys94Phe)

SNV
Germline

ChrX:101403899

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

rs_113173389

2 SubmittersRCV001201250

NM_000169.3(GLA):c.413G>A (p.Gly138Glu)

SNV
Germline

ChrX:101401766

Pathogenic/Likely pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1928326107

4 SubmittersRCV001217560 RCV001780137

NM_000169.3(GLA):c.431G>T (p.Gly144Val)

SNV
Germline

ChrX:101401748

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_782085638

1 SubmittersRCV001206271

NM_000169.3(GLA):c.811G>A (p.Gly271Ser)

SNV
Germline

ChrX:101398558

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_1928174707

1 SubmittersRCV001238670

NM_000169.3(GLA):c.646T>G (p.Tyr216Asp)

SNV
Germline

ChrX:101398940

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_1928199003

1 SubmittersRCV001236826

NM_000169.3(GLA):c.782G>A (p.Gly261Asp)

SNV
Germline

ChrX:101398804

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_869312401

2 SubmittersRCV001255564

NM_000169.3(GLA):c.350T>G (p.Ile117Ser)

SNV
Germline

ChrX:101403830

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_12392549

1 SubmittersRCV001260301

NM_000169.3(GLA):c.500T>C (p.Leu167Pro)

SNV
Germline

ChrX:101401679

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

rs_1928319806

2 SubmittersRCV001269208

NM_000169.3(GLA):c.1046G>A (p.Trp349Ter)

SNV
Germline

ChrX:101398053

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_869312218

4 SubmittersRCV001280595 RCV002282509

NM_000169.3(GLA):c.136C>T (p.His46Tyr)

SNV
Germline

ChrX:101407768

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_1928582757

1 SubmittersRCV001280630

NM_000169.3(GLA):c.1061T>A (p.Ile354Lys)

SNV
Germline

ChrX:101398038

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1928135337

3 SubmittersRCV001280904

NM_000169.3(GLA):c.890C>A (p.Ser297Tyr)

SNV
Germline

ChrX:101398479

Conflicting classifications of pathogenicity

not specified
Fabry disease

Criteria Provided
Conflicting Classifications

rs_28935489

2 SubmittersRCV001290655 RCV002543011

NM_000169.3(GLA):c.275A>G (p.Asp92Gly)

SNV
Germline

ChrX:101403905

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_1928406948

1 SubmittersRCV001290611

NM_000169.3(GLA):c.884T>G (p.Phe295Cys)

SNV
Germline

ChrX:101398485

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_1928168711

1 SubmittersRCV001293628

NM_000169.3(GLA):c.550T>G (p.Tyr184Asp)

SNV
Germline

ChrX:101400755

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_1928287649

1 SubmittersRCV001293627

NM_000169.3(GLA):c.412G>A (p.Gly138Arg)

SNV
Germline

ChrX:101401767

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_1928326524

1 SubmittersRCV001293629

NM_000169.3(GLA):c.370-2A>C

SNV
Germline

ChrX:101401811

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_730880444

2 SubmittersRCV001293592

NM_000169.3(GLA):c.1076T>C (p.Ile359Thr)

SNV
Germline

ChrX:101398023

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_1928132914

1 SubmittersRCV001321822

NM_000169.3(GLA):c.242G>C (p.Trp81Ser)

SNV
Germline

ChrX:101403938

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_398123208

1 SubmittersRCV001328356

NM_000169.3(GLA):c.454T>G (p.Tyr152Asp)

SNV
Germline

ChrX:101401725

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_1928323615

1 SubmittersRCV001341700

NM_000169.3(GLA):c.800T>G (p.Met267Arg)

SNV
Germline

ChrX:101398786

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312408

1 SubmittersRCV001358704

NM_000169.3(GLA):c.820G>C (p.Gly274Arg)

SNV
Germline

ChrX:101398549

Conflicting classifications of pathogenicity

Fabry disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2147472458

2 SubmittersRCV001368747 RCV003130507

NM_000169.3(GLA):c.924A>C (p.Lys308Asn)

SNV
Germline

ChrX:101398445

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_2147472050

1 SubmittersRCV001374746

NM_000169.3(GLA):c.835C>T (p.Gln279Ter)

SNV
Germline

ChrX:101398534

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_28935485

1 SubmittersRCV001374744

NM_000169.3(GLA):c.453C>G (p.Tyr151Ter)

SNV
Germline

ChrX:101401726

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312305

1 SubmittersRCV001374743

NM_000169.3(GLA):c.280T>A (p.Cys94Ser)

SNV
Germline

ChrX:101403900

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_2147480697

1 SubmittersRCV001374745

NM_000169.3(GLA):c.3G>A (p.Met1Ile)

SNV
Germline

ChrX:101407901

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_2147487910

2 SubmittersRCV001375575

NM_000169.3(GLA):c.778G>A (p.Gly260Arg)

SNV
Germline

ChrX:101398808

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_2147472959

1 SubmittersRCV001379079

NM_000169.3(GLA):c.1235C>T (p.Thr412Ile)

SNV
Germline

ChrX:101397864

Pathogenic/Likely pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2147470514

2 SubmittersRCV001383502 RCV001780327

NM_000169.3(GLA):c.379A>T (p.Lys127Ter)

SNV
Germline

ChrX:101401800

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_2147477845

3 SubmittersRCV001381526

NM_000169.3(GLA):c.369+2T>A

SNV
Germline

ChrX:101403809

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_387906483

1 SubmittersRCV001388694

NM_000169.3(GLA):c.878C>T (p.Pro293Leu)

SNV
Germline

ChrX:101398491

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312441

1 SubmittersRCV001391121

NM_000169.3(GLA):c.1101C>T (p.Ile367=)

SNV
Germline

ChrX:101397998

Conflicting classifications of pathogenicity

Fabry disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1928129537

3 SubmittersRCV001420000 RCV002432166

NM_000169.3(GLA):c.355C>T (p.Gln119Ter)

SNV
Germline

ChrX:101403825

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_2147480438

2 SubmittersRCV001420835

NM_000169.3(GLA):c.1000-9G>A

SNV
Germline

ChrX:101398108

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

rs_1928143594

2 SubmittersRCV001445108

NM_000169.3(GLA):c.192C>T (p.Ile64=)

SNV
Germline

ChrX:101407712

Conflicting classifications of pathogenicity

Fabry disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1555987080

2 SubmittersRCV001473670 RCV002414139

NM_000169.3(GLA):c.274G>C (p.Asp92His)

SNV
Germline

ChrX:101403906

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_886041315

1 SubmittersRCV001553582

NM_000169.3(GLA):c.170A>C (p.Gln57Pro)

SNV
Germline

ChrX:101407734

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312260

1 SubmittersRCV001563580

NM_000169.3(GLA):c.2T>A (p.Met1Lys)

SNV
Germline

ChrX:101407902

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_1555987232

1 SubmittersRCV002246498

NM_000169.3(GLA):c.898C>T (p.Leu300Phe)

SNV
Germline

ChrX:101398471

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

rs_2147472132

2 SubmittersRCV001782185 RCV003509695

NM_000169.3(GLA):c.1028C>T (p.Pro343Leu)

SNV
Germline

ChrX:101398071

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

rs_1555984858

3 SubmittersRCV001782191 RCV001806264

NM_000169.3(GLA):c.674A>G (p.His225Arg)

SNV
Germline

ChrX:101398912

Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_2147473301

2 SubmittersRCV001782193 RCV002541195

NM_000169.3(GLA):c.178C>T (p.Pro60Ser)

SNV
Germline

ChrX:101407726

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_727504689

1 SubmittersRCV001784081

NM_000169.3(GLA):c.656T>C (p.Ile219Thr)

SNV
Germline

ChrX:101398930

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_2147473404

1 SubmittersRCV001789804

NM_000169.3(GLA):c.486G>A (p.Trp162Ter)

SNV
Germline

ChrX:101401693

Pathogenic/Likely pathogenic

Cardiomyopathy
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_869312311

2 SubmittersRCV001799418 RCV002503288

NM_000169.3(GLA):c.195-2A>G

SNV
Germline

ChrX:101403987

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_2147480960

1 SubmittersRCV001815142

NM_000169.3(GLA):c.605G>C (p.Cys202Ser)

SNV
Germline

ChrX:101400700

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312344

1 SubmittersRCV001990547

NM_000169.3(GLA):c.812G>T (p.Gly271Val)

SNV
Germline

ChrX:101398557

Likely pathogenic

Fabry disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_869312429

2 SubmittersRCV002013540 RCV002423245

NM_000169.3(GLA):c.639+2T>C

SNV
Germline

ChrX:101400664

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_2147475773

1 SubmittersRCV002013573

NM_000169.3(GLA):c.640-2A>G

SNV
Germline

ChrX:101398948

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_2147473470

1 SubmittersRCV001921120

NM_000169.3(GLA):c.888G>T (p.Met296Ile)

SNV
Germline

ChrX:101398481

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_104894846

2 SubmittersRCV001919968

NM_000169.3(GLA):c.1118G>T (p.Gly373Val)

SNV
Germline

ChrX:101397981

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312227

1 SubmittersRCV001946593

NM_000169.3(GLA):c.127G>C (p.Gly43Arg)

SNV
Germline

ChrX:101407777

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_886044906

1 SubmittersRCV001956188

NM_000169.3(GLA):c.338T>C (p.Phe113Ser)

SNV
Germline

ChrX:101403842

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_2147480502

1 SubmittersRCV001963157

NM_000169.3(GLA):c.708G>A (p.Trp236Ter)

SNV
Germline

ChrX:101398878

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312386

1 SubmittersRCV002250437

NM_000169.3(GLA):c.613C>G (p.Pro205Ala)

SNV
Germline

ChrX:101400692

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002293713 RCV003097834

NM_000169.3(GLA):c.936G>C (p.Gln312His)

SNV
Germline

ChrX:101398433

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV002293968

NM_000169.3(GLA):c.512G>A (p.Gly171Asp)

SNV
Germline

ChrX:101401667

Likely pathogenic

Cardiovascular phenotype
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002344217 RCV003340486

NM_000169.3(GLA):c.47T>C (p.Leu16Pro)

SNV
Germline

ChrX:101407857

Likely pathogenic

Cardiovascular phenotype
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002337874 RCV003096472

NM_000169.3(GLA):c.374A>T (p.His125Leu)

SNV
Germline

ChrX:101401805

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV002471484

NM_000169.3(GLA):c.383G>A (p.Gly128Glu)

SNV
Germline

ChrX:101401796

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV002471495

NM_000169.3(GLA):c.983G>A (p.Gly328Glu)

SNV
Germline

ChrX:101398386

Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003066349

NM_000169.3(GLA):c.426C>A (p.Cys142Ter)

SNV
Germline

ChrX:101401753

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003050638

NM_000169.3(GLA):c.358C>G (p.Leu120Val)

SNV
Germline

ChrX:101403822

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV003066353

NM_000169.3(GLA):c.227T>C (p.Met76Thr)

SNV
Germline

ChrX:101403953

Conflicting classifications of pathogenicity

Fabry disease
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003066355 RCV003491210

NM_000169.3(GLA):c.137A>C (p.His46Pro)

SNV
Germline

ChrX:101407767

Likely pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003066356 RCV003491211

NM_000169.3(GLA):c.194+1G>T

SNV
Germline

ChrX:101407709

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV003026559

NM_000169.3(GLA):c.779G>T (p.Gly260Val)

SNV
Unknown

ChrX:101398807

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV003153125

NM_000169.3(GLA):c.1168G>A (p.Val390Met)

SNV
Germline

ChrX:101397931

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV003317714

NM_000169.3(GLA):c.1133G>A (p.Cys378Tyr)

SNV
Germline

ChrX:101397966

Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003335936

NM_000169.3(GLA):c.666C>G (p.Tyr222Ter)

SNV
Unknown

ChrX:101398920

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV003484584

NM_000169.3(GLA):c.116C>G (p.Thr39Arg)

SNV
Germline

ChrX:101407788

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV003484242

NM_000169.3(GLA):c.908T>A (p.Ile303Asn)

SNV
Germline

ChrX:101398461

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV003509070

NM_000169.3(GLA):c.886A>T (p.Met296Leu)

SNV
Germline

ChrX:101398483

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV003509071

NM_000169.3(GLA):c.809T>C (p.Ile270Thr)

SNV
Germline

ChrX:101398560

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV003509073

NM_000169.3(GLA):c.514T>C (p.Cys172Arg)

SNV
Germline

ChrX:101401665

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV003509075

NM_000169.3(GLA):c.176A>T (p.Glu59Val)

SNV
Germline

ChrX:101407728

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV003622772

NM_000169.3(GLA):c.1165C>G (p.Pro389Ala)

SNV
Germline

ChrX:101397934

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV004015430

NM_000169.3(GLA):c.1145G>C (p.Cys382Ser)

SNV
Germline

ChrX:101397954

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV004549030

NM_000169.3(GLA):c.781G>T (p.Gly261Cys)

SNV
Germline

ChrX:101398805

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV004584265