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/Likely pathogenic	Fabry disease Condition: not provided GLA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA021340	rs_104894827	8 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 Condition: not provided Primary familial hypertrophic cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA022189	rs_104894828	13 SubmittersRCV000011461 RCV000011462 RCV000244581 RCV000723405 RCV000845380
NM_000169.3(GLA):c.131G>A (p.Trp44Ter)	SNV Germline	ChrX:101407773	Pathogenic	Fabry disease	Criteria Provided Single Submitter	CA021519	rs_104894829	2 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	9 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	6 SubmittersRCV000011466 RCV000729403
NM_000169.3(GLA):c.999+1G>T	SNV Germline	ChrX:101398369	Pathogenic	Fabry disease	Criteria Provided Single Submitter	CA413921267	rs_1603038103	2 SubmittersRCV000011467
NM_000169.3(GLA):c.835C>G (p.Gln279Glu)	SNV Germline	ChrX:101398534	Pathogenic/Likely pathogenic	Fabry disease, cardiac variant Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA022117	rs_28935485	4 SubmittersRCV000011468 RCV001781218 RCV005644479
NM_000169.3(GLA):c.982G>A (p.Gly328Arg)	SNV Germline	ChrX:101398387	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA022255	rs_104894832	3 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 GLA-related disorder	Criteria Provided Conflicting Classifications	CA021590	rs_104894833	15 SubmittersRCV000150750 RCV000728539 RCV000822343 RCV003162613 RCV004752756
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	7 SubmittersRCV000011471 RCV000723530
NM_000169.3(GLA):c.166T>G (p.Cys56Gly)	SNV Germline	ChrX:101407738	Pathogenic	Fabry disease	Criteria Provided Single Submitter	CA021558	rs_104894836	2 SubmittersRCV000011472
NM_000169.3(GLA):c.466G>A (p.Ala156Thr)	SNV Germline	ChrX:101401713	Pathogenic/Likely pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA021734	rs_28935195	3 SubmittersRCV000011474 RCV005632172
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	4 SubmittersRCV000011475 RCV003137512
NM_000169.3(GLA):c.606T>G (p.Cys202Trp)	SNV Germline	ChrX:101400699	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA021821	rs_104894838	3 SubmittersRCV000011476
NM_000169.3(GLA):c.644A>G (p.Asn215Ser)	SNV Germline	ChrX:101398942	Pathogenic/Likely pathogenic	Fabry disease Condition: not provided Cardiovascular phenotype Fabry disease Hypertrophic cardiomyopathy Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA021924	rs_28935197	26 SubmittersRCV000011477 RCV000157896 RCV000618059 RCV000844705 RCV001798000
NM_000169.3(GLA):c.806T>C (p.Val269Ala)	SNV Germline	ChrX:101398563	Pathogenic	Fabry disease	Criteria Provided Single Submitter	CA022087	rs_28935488	2 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	13 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	11 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	6 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	6 SubmittersRCV000011481 RCV000733417
NM_000169.3(GLA):c.861G>A (p.Trp287Ter)	SNV Germline	ChrX:101398508	Pathogenic	Fabry disease	Criteria Provided Single Submitter	CA022128	rs_104894839	2 SubmittersRCV000011483
NM_000169.3(GLA):c.890C>T (p.Ser297Phe)	SNV Germline	ChrX:101398479	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA022153	rs_28935489	4 SubmittersRCV000011484
NM_000169.3(GLA):c.979C>A (p.Gln327Lys)	SNV Germline	ChrX:101398390	Pathogenic	Fabry disease	Criteria Provided Single Submitter	CA022249	rs_28935491	2 SubmittersRCV000011487
NM_000169.3(GLA):c.983G>C (p.Gly328Ala)	SNV Germline	ChrX:101398386	Pathogenic/Likely pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA022267	rs_28935492	5 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	7 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	10 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	11 SubmittersRCV000011491 RCV000723730 RCV003398484
NM_000169.3(GLA):c.1081G>C (p.Gly361Arg)	SNV Germline	ChrX:101398018	Pathogenic	Fabry disease	Criteria Provided Single Submitter	CA021360	rs_28935494	2 SubmittersRCV000011492
NM_000169.3(GLA):c.1192G>T (p.Glu398Ter)	SNV Germline	ChrX:101397907	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA021448	rs_104894844	3 SubmittersRCV000011493
NM_000169.3(GLA):c.369+2T>G	SNV Germline	ChrX:101403809	Pathogenic	Fabry disease	Criteria Provided Single Submitter	CA021675	rs_387906483	2 SubmittersRCV000011485
NM_000169.3(GLA):c.888G>A (p.Met296Ile)	SNV Germline	ChrX:101398481	Likely pathogenic	Fabry disease, cardiac variant Fabry disease	Criteria Provided Single Submitter	CA022146	rs_104894846	2 SubmittersRCV000011510 RCV005644480
NM_000169.3(GLA):c.58G>C (p.Ala20Pro)	SNV Germline	ChrX:101407846	Pathogenic	Fabry disease, cardiac variant Fabry disease	Criteria Provided Single Submitter	CA021802	rs_104894847	2 SubmittersRCV000011511 RCV005644481
NM_000169.3(GLA):c.194G>C (p.Ser65Thr)	SNV Germline	ChrX:101407710	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter	CA021577	rs_104894848	2 SubmittersRCV000011513
NM_000169.3(GLA):c.1095T>A (p.Tyr365Ter)	SNV Germline	ChrX:101398004	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA021385	rs_104894849	3 SubmittersRCV000011514 RCV001781220
NM_000169.3(GLA):c.640-801G>A	SNV Germline	ChrX:101399747	Pathogenic	Fabry disease, cardiac variant Fabry disease Condition: not provided Cardiomyopathy Fabry disease Hypertrophic cardiomyopathy Cardiovascular phenotype GLA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA021883	rs_199473684	20 SubmittersRCV000011515 RCV000154318 RCV000728949 RCV000769537 RCV000844706 RCV002362578 RCV004752698
NM_000169.3(GLA):c.427G>C (p.Ala143Pro)	SNV Germline	ChrX:101401752	Pathogenic/Likely pathogenic	Fabry disease Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA021721	rs_104894845	9 SubmittersRCV000011516 RCV000157890 RCV006342073
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	5 SubmittersRCV000011517 RCV000730382
NM_000169.3(GLA):c.1228A>G (p.Thr410Ala)	SNV Germline	ChrX:101397871	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA021462	rs_104894852	3 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	4 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	13 SubmittersRCV000482440 RCV000780291 RCV002321570
NM_000169.3(GLA):c.1000-14T>C	SNV Germline	ChrX:101398113	Conflicting classifications of pathogenicity	not specified Fabry disease Condition: not provided	Criteria Provided Conflicting Classifications	CA021279	rs_397515868	6 SubmittersRCV000035298 RCV002496526 RCV004703191
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	10 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 Cardiovascular phenotype Condition: not provided Cardiomyopathy GLA-related disorder	Criteria Provided Conflicting Classifications	CA021658	rs_148158093	27 SubmittersRCV000035303 RCV000078277 RCV000619869 RCV000723556 RCV000769541 RCV004752731
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	9 SubmittersRCV000153322 RCV000723986 RCV000769540 RCV002354187
NM_000169.3(GLA):c.639+6A>C	SNV Germline	ChrX:101400660	Conflicting classifications of pathogenicity	not specified Fabry disease Condition: not provided	Criteria Provided Conflicting Classifications	CA021876	rs_200096940	8 SubmittersRCV000035306 RCV001165639 RCV006250244
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	11 SubmittersRCV000035309 RCV000735194 RCV001089401 RCV002362616 RCV003149615 RCV003924901
NM_000169.3(GLA):c.724A>T (p.Ile242Phe)	SNV Germline	ChrX:101398862	Conflicting classifications of pathogenicity	not specified Fabry disease	Criteria Provided Conflicting Classifications	CA022013	rs_397515873	2 SubmittersRCV000035310 RCV005644492
NM_000169.3(GLA):c.729G>C (p.Leu243Phe)	SNV Germline	ChrX:101398857	Conflicting classifications of pathogenicity	not specified Fabry disease	Criteria Provided Conflicting Classifications	CA022020	rs_397515874	2 SubmittersRCV000035311 RCV005644493
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	18 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	3 SubmittersRCV000078264 RCV003997194
NM_000169.3(GLA):c.1247A>C (p.Gln416Pro)	SNV Germline	ChrX:101397852	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications	CA021486	rs_398123200	4 SubmittersRCV000078265 RCV001854373
NM_000169.3(GLA):c.125T>C (p.Met42Thr)	SNV Germline	ChrX:101407779	Pathogenic/Likely pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA021500	rs_398123201	6 SubmittersRCV000078266 RCV000723538
NM_000169.3(GLA):c.132G>C (p.Trp44Cys)	SNV Germline	ChrX:101407772	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications	CA021525	rs_398123202	2 SubmittersRCV000078267 RCV005644506
NM_000169.3(GLA):c.137A>T (p.His46Leu)	SNV Germline	ChrX:101407767	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA021538	rs_398123203	2 SubmittersRCV000078268 RCV005644507
NM_000169.3(GLA):c.142G>C (p.Glu48Gln)	SNV Germline	ChrX:101407762	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications	CA021544	rs_398123204	2 SubmittersRCV000078269 RCV005644508
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	3 SubmittersRCV000078270 RCV003509487
NM_000169.3(GLA):c.195-1G>C	SNV Germline	ChrX:101403986	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA021583	rs_398123206	2 SubmittersRCV000078271 RCV005644509
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	3 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	4 SubmittersRCV000157886 RCV001807017
NM_000169.3(GLA):c.281G>A (p.Cys94Tyr)	SNV Germline	ChrX:101403899	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA021617	rs_113173389	4 SubmittersRCV000078274 RCV001854374
NM_000169.3(GLA):c.335G>T (p.Arg112Leu)	SNV Germline	ChrX:101403845	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA021652	rs_372966991	4 SubmittersRCV000078276 RCV005089536 RCV005403757
NM_000169.3(GLA):c.369+5G>T	SNV Germline	ChrX:101403806	Conflicting classifications of pathogenicity	Condition: not provided not specified Fabry disease	Criteria Provided Conflicting Classifications	CA021680	rs_398123209	7 SubmittersRCV000078278 RCV001553583 RCV001807018
NM_000169.3(GLA):c.509A>G (p.Asp170Gly)	SNV Germline	ChrX:101401670	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA021780	rs_398123210	2 SubmittersRCV000078281 RCV005644510
NM_000169.3(GLA):c.548-2A>G	SNV Germline	ChrX:101400759	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA021790	rs_398123211	4 SubmittersRCV000078282 RCV005644511
NM_000169.3(GLA):c.548G>T (p.Gly183Val)	SNV Germline	ChrX:101400757	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA021796	rs_398123212	3 SubmittersRCV000078283 RCV005644512
NM_000169.3(GLA):c.595G>A (p.Val199Met)	SNV Germline	ChrX:101400710	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications	CA021815	rs_398123213	3 SubmittersRCV000078284 RCV005644513
NM_000169.3(GLA):c.639+4A>T	SNV Germline	ChrX:101400662	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease GLA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA021870	rs_398123215	5 SubmittersRCV000078286 RCV002498377 RCV003398668
NM_000169.3(GLA):c.640-1G>T	SNV Germline	ChrX:101398947	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA021898	rs_398123216	4 SubmittersRCV000078288 RCV005644514
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	4 SubmittersRCV000078290 RCV000822976
NM_000169.3(GLA):c.677G>A (p.Trp226Ter)	SNV Germline	ChrX:101398909	Pathogenic	Condition: not provided Cardiovascular phenotype Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA021958	rs_398123219	5 SubmittersRCV000078292 RCV002362724 RCV005644515
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	5 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	6 SubmittersRCV000078297 RCV000780290
NM_000169.3(GLA):c.823C>T (p.Leu275Phe)	SNV Germline	ChrX:101398546	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA022106	rs_398123222	2 SubmittersRCV000078298 RCV005644516
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	4 SubmittersRCV000078299 RCV003509488
NM_000169.3(GLA):c.899T>C (p.Leu300Pro)	SNV Germline	ChrX:101398470	Pathogenic/Likely pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA022159	rs_398123223	6 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	10 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	3 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	4 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	7 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	4 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	20 SubmittersRCV000150749 RCV000203179 RCV000621570 RCV000782202 RCV003149916
NM_000169.3(GLA):c.658C>T (p.Arg220Ter)	SNV Germline	ChrX:101398928	Pathogenic	Fabry disease Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA021936	rs_727503949	11 SubmittersRCV000153320 RCV000723942 RCV005572276
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 GLA-related disorder	Criteria Provided Conflicting Classifications	CA021809	rs_727503950	13 SubmittersRCV000153323 RCV000209729 RCV000723576 RCV002354357 RCV004752760
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 not specified	Criteria Provided Conflicting Classifications	CA021839	rs_372416832	12 SubmittersRCV000418558 RCV000798173 RCV002362805 RCV003415998 RCV004586574
NC_000023.11:g.101398856C>T	SNV Germline	ChrX:101398856	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications	CA022025	rs_727503948	3 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	4 SubmittersRCV000153324 RCV000780292
NM_000169.3(GLA):c.1023A>C	SNV Germline	ChrX:101398076	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA273335	rs_797044497	2 SubmittersRCV000153316 RCV005644525
NM_000169.3(GLA):c.802-2A>G	SNV Germline	ChrX:101398569	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA273339	rs_797044499	3 SubmittersRCV000153318 RCV005644526
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser)	SNV Germline	ChrX:101397982	Pathogenic/Likely pathogenic	Fabry disease Condition: not provided Hypertrophic cardiomyopathy Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA021403	rs_727504348	7 SubmittersRCV000154469 RCV000727357 RCV000844704
NM_000169.3(GLA):c.485G>T (p.Trp162Leu)	SNV Germline	ChrX:101401694	Conflicting classifications of pathogenicity	not specified Fabry disease	Criteria Provided Conflicting Classifications	CA021760	rs_727504350	2 SubmittersRCV000154471 RCV005644527
NM_000169.3(GLA):c.901C>G (p.Arg301Gly)	SNV Germline	ChrX:101398468	Pathogenic/Likely pathogenic	not specified Fabry disease Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA022178	rs_398123224	9 SubmittersRCV000156338 RCV000823627 RCV003137679 RCV003298170
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	Pathogenic/Likely pathogenic	not specified Fabry disease Migalastat response Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA022050	rs_727505292	7 SubmittersRCV000156824 RCV000209022 RCV000209285 RCV001781498
NM_000169.3(GLA):c.1229C>A (p.Thr410Lys)	SNV Germline	ChrX:101397870	Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA021469	rs_730880442	2 SubmittersRCV001269207
NM_000169.3(GLA):c.1085C>T (p.Pro362Leu)	SNV Germline	ChrX:101398014	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA021367	rs_730880441	7 SubmittersRCV000157883 RCV001807105 RCV005404286
NM_000169.3(GLA):c.1019G>A (p.Trp340Ter)	SNV Germline	ChrX:101398080	Pathogenic	Fabry disease GLA-related disorder Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA021293	rs_730880440	4 SubmittersRCV003066348 RCV004731317 RCV004992459
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	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA022220	rs_730880439	2 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	6 SubmittersRCV000157902 RCV001807106
NM_000169.3(GLA):c.801G>A (p.Met267Ile)	SNV Germline	ChrX:101398785	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA022081	rs_730880451	6 SubmittersRCV000157900 RCV000627818
NM_000169.3(GLA):c.721A>G (p.Ser241Gly)	SNV Germline	ChrX:101398865	Conflicting classifications of pathogenicity	not specified Fabry disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA022007	rs_730880438	3 SubmittersRCV000157877 RCV003509502 RCV004992037
NM_000169.3(GLA):c.713G>A (p.Ser238Asn)	SNV Germline	ChrX:101398873	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease Cardiovascular phenotype GLA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA021996	rs_730880450	9 SubmittersRCV000157899 RCV000781420 RCV002362843 RCV004752764
NM_000169.3(GLA):c.621T>A (p.Tyr207Ter)	SNV Germline	ChrX:101400684	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_730880449	1 SubmittersRCV005644758
NM_000169.3(GLA):c.548-1G>A	SNV Germline	ChrX:101400758	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA021785	rs_730880447	2 SubmittersRCV000157893 RCV005645026
NM_000169.3(GLA):c.370-2A>G	SNV Germline	ChrX:101401811	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA021685	rs_730880444	2 SubmittersRCV000157887 RCV005644529
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	CA021605	rs_730880443	3 SubmittersRCV000733596 RCV002516375
NM_000169.3(GLA):c.41T>C (p.Leu14Pro)	SNV Germline	ChrX:101407863	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA021708	rs_730880455	5 SubmittersRCV000734825 RCV001192396
NM_000169.3(GLA):c.124A>C (p.Met42Leu)	SNV Germline	ChrX:101407780	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA021494	rs_797044613	10 SubmittersRCV000235742 RCV000809963 RCV005572281
NM_000169.3(GLA):c.137A>G (p.His46Arg)	SNV Germline	ChrX:101407767	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA021532	rs_398123203	3 SubmittersRCV000173078 RCV005645031
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	4 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	8 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	6 SubmittersRCV000176999 RCV000723475
NM_000169.3(GLA):c.620A>G (p.Tyr207Cys)	SNV Germline	ChrX:101400685	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA021845	rs_797044727	3 SubmittersRCV000178050 RCV005645032
NM_000169.3(GLA):c.704C>G (p.Ser235Cys)	SNV Germline	ChrX:101398882	Pathogenic/Likely pathogenic	Condition: not provided Cardiovascular phenotype Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA021984	rs_797044746	6 SubmittersRCV000178723 RCV002372097 RCV005406898
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	5 SubmittersRCV000178724 RCV001036876
NM_000169.3(GLA):c.801+3A>G	SNV Germline	ChrX:101398782	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA022074	rs_797044748	6 SubmittersRCV000178725 RCV001194307
NM_000169.3(GLA):c.916C>T (p.Gln306Ter)	SNV Germline	ChrX:101398453	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA022196	rs_797044768	3 SubmittersRCV000179266 RCV005645033
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	6 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	4 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	5 SubmittersRCV000179728 RCV000792067
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys)	SNV Germline	ChrX:101398012	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA021376	rs_797044776	14 SubmittersRCV000179729 RCV001249019 RCV005841526
NM_000169.3(GLA):c.1067G>C (p.Arg356Pro)	SNV Germline	ChrX:101398032	Likely pathogenic	Fabry disease Migalastat response	Criteria Provided Single Submitter	CA353301	rs_869312163	2 SubmittersRCV000209490 RCV000209758
NM_000169.3(GLA):c.980A>T (p.Gln327Leu)	SNV Germline	ChrX:101398389	Pathogenic	Fabry disease Migalastat response	Criteria Provided Single Submitter	CA353272	rs_869312160	2 SubmittersRCV000209419 RCV000209806
NM_000169.3(GLA):c.980A>G (p.Gln327Arg)	SNV Germline	ChrX:101398389	Likely pathogenic	Fabry disease Migalastat response	Criteria Provided Single Submitter	CA353090	rs_869312160	2 SubmittersRCV000209595 RCV000209037
NM_000169.3(GLA):c.950T>G (p.Ile317Ser)	SNV Germline	ChrX:101398419	Pathogenic	Fabry disease Migalastat response	Criteria Provided Single Submitter	CA353236	rs_869312158	2 SubmittersRCV000209347 RCV000209621
NM_000169.3(GLA):c.937G>A (p.Asp313Asn)	SNV Germline	ChrX:101398432	Conflicting classifications of pathogenicity	Migalastat response Fabry disease Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA089142	rs_28935490	5 SubmittersRCV000209542 RCV000209154 RCV002225504 RCV002372191
NM_000169.3(GLA):c.806T>G (p.Val269Gly)	SNV Germline	ChrX:101398563	Pathogenic	Fabry disease Migalastat response	Criteria Provided Single Submitter	CA089038	rs_28935488	2 SubmittersRCV000209091 RCV000209357
NM_000169.3(GLA):c.784T>C (p.Trp262Arg)	SNV Germline	ChrX:101398802	Pathogenic	Migalastat response Fabry disease	Criteria Provided Single Submitter	CA353257	rs_869312154	2 SubmittersRCV000209767 RCV000209382
NM_000169.3(GLA):c.680G>C (p.Arg227Pro)	SNV Germline	ChrX:101398906	Pathogenic	Fabry disease Migalastat response	Criteria Provided Single Submitter	CA089014	rs_104894840	2 SubmittersRCV000208950 RCV000209334
NM_000169.3(GLA):c.657C>G (p.Ile219Met)	SNV Germline	ChrX:101398929	Likely pathogenic	Fabry disease Migalastat response	Criteria Provided Single Submitter	CA353134	rs_869312151	2 SubmittersRCV000209122 RCV000209507
NM_000169.3(GLA):c.641C>T (p.Pro214Leu)	SNV Germline	ChrX:101398945	Likely pathogenic	Migalastat response Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA353062	rs_869312150	3 SubmittersRCV000208972 RCV000209531
NM_000169.3(GLA):c.638A>G (p.Lys213Arg)	SNV Germline	ChrX:101400667	Likely pathogenic	Migalastat response Fabry disease Nonpapillary renal cell carcinoma	Criteria Provided Single Submitter	CA353146	rs_869312149	3 SubmittersRCV000209142 RCV000209822 RCV005893612
NM_000169.3(GLA):c.610T>C (p.Trp204Arg)	SNV Germline	ChrX:101400695	Pathogenic/Likely pathogenic	Fabry disease Migalastat response Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA353155	rs_869312148	4 SubmittersRCV000209164 RCV000209436 RCV000727338
NM_000169.3(GLA):c.561G>A (p.Met187Ile)	SNV Germline	ChrX:101400744	Pathogenic	Fabry disease Migalastat response	Criteria Provided Single Submitter	CA353123	rs_869312146	2 SubmittersRCV000209103 RCV000209370
NM_000169.3(GLA):c.540G>T (p.Leu180Phe)	SNV Germline	ChrX:101401639	Conflicting classifications of pathogenicity	Fabry disease Migalastat response Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA353207	rs_869312145	4 SubmittersRCV000209274 RCV000209663 RCV002345718
NM_000169.3(GLA):c.337T>A (p.Phe113Ile)	SNV Germline	ChrX:101403843	Likely pathogenic	Fabry disease Migalastat response	Criteria Provided Single Submitter	CA353045	rs_869312142	2 SubmittersRCV000209492 RCV000208936
NM_000169.3(GLA):c.272T>A (p.Ile91Asn)	SNV Germline	ChrX:101403908	Likely pathogenic	Migalastat response Fabry disease	Criteria Provided Single Submitter	CA353184	rs_869312141	2 SubmittersRCV000209224 RCV000209786
NM_000169.3(GLA):c.256T>C (p.Tyr86His)	SNV Germline	ChrX:101403924	Pathogenic	Migalastat response Fabry disease	Criteria Provided Single Submitter	CA353138	rs_869312140	2 SubmittersRCV000209399 RCV000209126
NM_000169.3(GLA):c.239G>A (p.Gly80Asp)	SNV Germline	ChrX:101403941	Conflicting classifications of pathogenicity	Fabry disease Migalastat response Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA089420	rs_781838005	14 SubmittersRCV000209421 RCV000209815 RCV000732705 RCV002444816
NM_000169.3(GLA):c.190A>T (p.Ile64Phe)	SNV Germline	ChrX:101407714	Likely pathogenic	Fabry disease Migalastat response	Criteria Provided Single Submitter	CA353104	rs_869312139	2 SubmittersRCV000209059 RCV000209447
NM_000169.3(GLA):c.107T>G (p.Leu36Trp)	SNV Germline	ChrX:101407797	Pathogenic	Migalastat response Fabry disease	Criteria Provided Single Submitter	CA353241	rs_869312138	2 SubmittersRCV000209629 RCV000209353
NM_000169.3(GLA):c.104G>A (p.Gly35Glu)	SNV Germline	ChrX:101407800	Likely pathogenic	Migalastat response Fabry disease	Criteria Provided Single Submitter	CA353058	rs_869312137	2 SubmittersRCV000208963 RCV000209648
NM_000169.3(GLA):c.98A>G (p.Asp33Gly)	SNV Germline	ChrX:101407806	Likely pathogenic	Fabry disease Migalastat response	Criteria Provided Single Submitter	CA353071	rs_869312136	2 SubmittersRCV000208990 RCV000209255
NM_000169.3(GLA):c.62T>C (p.Leu21Pro)	SNV Germline	ChrX:101407842	Pathogenic/Likely pathogenic	Fabry disease Migalastat response	Criteria Provided Multiple Submitters No Conflicts	CA353214	rs_869312135	3 SubmittersRCV000209283 RCV000209546
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	4 SubmittersRCV000208891 RCV000209573
NM_000169.3(GLA):c.1250T>C (p.Leu417Pro)	SNV Germline	ChrX:101397849	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312248	1 SubmittersRCV005645753
NM_000169.3(GLA):c.1246C>T (p.Gln416Ter)	SNV Germline	ChrX:101397853	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352683	rs_869312247	2 SubmittersRCV000730154 RCV005645037
NM_000169.3(GLA):c.1244T>C (p.Leu415Pro)	SNV Germline	ChrX:101397855	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352271	rs_112341092	2 SubmittersRCV000587942
NM_000169.3(GLA):c.1196G>A (p.Trp399Ter)	SNV Germline	ChrX:101397903	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_782449839	1 SubmittersRCV005644790
NM_000169.3(GLA):c.1191T>G (p.Tyr397Ter)	SNV Germline	ChrX:101397908	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312236	1 SubmittersRCV005644788
NM_000169.3(GLA):c.1160T>C (p.Leu387Pro)	SNV Germline	ChrX:101397939	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312234	1 SubmittersRCV005645731
NM_000169.3(GLA):c.1156C>T (p.Gln386Ter)	SNV Germline	ChrX:101397943	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352605	rs_869312233	2 SubmittersRCV003228458 RCV005645461
NM_000169.3(GLA):c.1145G>A (p.Cys382Tyr)	SNV Germline	ChrX:101397954	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_113993943	1 SubmittersRCV005645727
NM_000169.3(GLA):c.1132T>C (p.Cys378Arg)	SNV Germline	ChrX:101397967	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_869312230	3 SubmittersRCV005645725
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	8 SubmittersRCV000236260 RCV001193638
NM_000169.3(GLA):c.1088G>A (p.Arg363His)	SNV Germline	ChrX:101398011	Pathogenic/Likely pathogenic	Fabry disease Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA029545	rs_111422676	18 SubmittersRCV000398396 RCV000724675 RCV005348076
NM_000169.3(GLA):c.1079G>A (p.Gly360Asp)	SNV Germline	ChrX:101398020	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352363	rs_782509013	2 SubmittersRCV002048087
NM_000169.3(GLA):c.1078G>C (p.Gly360Arg)	SNV Germline	ChrX:101398021	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352316	rs_782598150	5 SubmittersRCV000728585 RCV002515537
NM_000169.3(GLA):c.1078G>A (p.Gly360Ser)	SNV Germline	ChrX:101398021	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_782598150	1 SubmittersRCV005645715
NM_000169.3(GLA):c.1073A>G (p.Glu358Gly)	SNV Germline	ChrX:101398026	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312224	1 SubmittersRCV005645713
NM_000169.3(GLA):c.1069C>T (p.Gln357Ter)	SNV Germline	ChrX:101398030	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352747	rs_869312223	2 SubmittersRCV000732876 RCV005645036
NM_000169.3(GLA):c.1067G>A (p.Arg356Gln)	SNV Germline	ChrX:101398032	Conflicting classifications of pathogenicity	Fabry disease Condition: not provided Cardiovascular phenotype not specified GLA-related disorder	Criteria Provided Conflicting Classifications	CA352982	rs_869312163	11 SubmittersRCV000536023 RCV000734623 RCV002408900 RCV003488463 RCV004752797
NM_000169.3(GLA):c.1047G>A (p.Trp349Ter)	SNV Germline	ChrX:101398052	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312219	1 SubmittersRCV005644780
NM_000169.3(GLA):c.1031T>C (p.Leu344Pro)	SNV Germline	ChrX:101398068	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312216	1 SubmittersRCV005645702
NM_000169.3(GLA):c.1025G>C (p.Arg342Pro)	SNV Germline	ChrX:101398074	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_28935493	1 SubmittersRCV005645701
NM_000169.3(GLA):c.1021G>A (p.Glu341Lys)	SNV Germline	ChrX:101398078	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352962	rs_869312214	2 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	CA352689	rs_869312204	3 SubmittersRCV001389324 RCV003137794
NM_000169.3(GLA):c.1000-10G>A	SNV Germline	ChrX:101398109	Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352880	rs_869312203	2 SubmittersRCV000780297
NM_000169.3(GLA):c.983G>T (p.Gly328Val)	SNV Germline	ChrX:101398386	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352350	rs_28935492	4 SubmittersRCV001782189 RCV005645302
NM_000169.3(GLA):c.971T>A (p.Leu324Ter)	SNV Germline	ChrX:101398398	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312456	1 SubmittersRCV005123601
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	7 SubmittersRCV000367678 RCV000780289
NM_000169.3(GLA):c.959A>T (p.Asn320Ile)	SNV Germline	ChrX:101398410	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312454	1 SubmittersRCV005645680
NM_000169.3(GLA):c.931C>T (p.Leu311Phe)	SNV Germline	ChrX:101398438	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_869312449	2 SubmittersRCV005256462
NM_000169.3(GLA):c.907A>T (p.Ile303Phe)	SNV Germline	ChrX:101398462	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312445	1 SubmittersRCV005645655
NM_000169.3(GLA):c.902G>T (p.Arg301Leu)	SNV Germline	ChrX:101398467	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_104894828	1 SubmittersRCV005645653
NM_000169.3(GLA):c.902G>C (p.Arg301Pro)	SNV Germline	ChrX:101398467	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352275	rs_104894828	3 SubmittersRCV001958657
NM_000169.3(GLA):c.890C>G (p.Ser297Cys)	SNV Germline	ChrX:101398479	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications	CA352262	rs_28935489	2 SubmittersRCV000277132 RCV005645041
NM_000169.3(GLA):c.887T>C (p.Met296Thr)	SNV Germline	ChrX:101398482	Likely pathogenic	Condition: not provided Fabry disease Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA352849	rs_869312442	4 SubmittersRCV000734829 RCV001853290 RCV006342176
NM_000169.3(GLA):c.877C>T (p.Pro293Ser)	SNV Germline	ChrX:101398492	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352956	rs_869312440	2 SubmittersRCV003143315 RCV005645454
NM_000169.3(GLA):c.875C>T (p.Ala292Val)	SNV Germline	ChrX:101398494	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_782298737	1 SubmittersRCV005645641
NM_000169.3(GLA):c.871G>A (p.Ala291Thr)	SNV Germline	ChrX:101398498	Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352629	rs_869312439	2 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	CA352994	rs_869312438	7 SubmittersRCV000733247 RCV001280629
NM_000169.3(GLA):c.870G>A (p.Met290Ile)	SNV Germline	ChrX:101398499	Conflicting classifications of pathogenicity	Fabry disease Condition: not provided	Criteria Provided Conflicting Classifications	CA352736	rs_869312438	6 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	11 SubmittersRCV000545099 RCV000786316 RCV002372207
NM_000169.3(GLA):c.863C>A (p.Ala288Asp)	SNV Germline	ChrX:101398506	Conflicting classifications of pathogenicity	Fabry disease	Criteria Provided Conflicting Classifications	CA352808	rs_869312437	2 SubmittersRCV003509072
NM_000169.3(GLA):c.862G>C (p.Ala288Pro)	SNV Germline	ChrX:101398507	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312436	1 SubmittersRCV005645638
NM_000169.3(GLA):c.838C>T (p.Gln280Ter)	SNV Germline	ChrX:101398531	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312434	1 SubmittersRCV006495029
NM_000169.3(GLA):c.836A>G (p.Gln279Arg)	SNV Germline	ChrX:101398533	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_869312433	2 SubmittersRCV005409458
NM_000169.3(GLA):c.826A>G (p.Ser276Gly)	SNV Germline	ChrX:101398543	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA352690	rs_869312432	4 SubmittersRCV000703679 RCV000729606
NM_000169.3(GLA):c.824T>A (p.Leu275His)	SNV Germline	ChrX:101398545	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312431	1 SubmittersRCV005645614
NM_000169.3(GLA):c.818T>C (p.Phe273Ser)	SNV Germline	ChrX:101398551	Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352817	rs_869312430	2 SubmittersRCV001226443
NM_000169.3(GLA):c.812G>C (p.Gly271Ala)	SNV Germline	ChrX:101398557	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312429	1 SubmittersRCV005645604
NM_000169.3(GLA):c.805G>C (p.Val269Leu)	SNV Germline	ChrX:101398564	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312427	1 SubmittersRCV005645602
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	4 SubmittersRCV000589129 RCV003137796
NM_000169.3(GLA):c.801+4A>G	SNV Germline	ChrX:101398781	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_868993843	1 SubmittersRCV005644718
NM_000169.3(GLA):c.801+1G>A	SNV Germline	ChrX:101398784	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_868923658	1 SubmittersRCV005644810
NM_000169.3(GLA):c.800T>C (p.Met267Thr)	SNV Germline	ChrX:101398786	Conflicting classifications of pathogenicity	Fabry disease	Criteria Provided Conflicting Classifications		rs_869312408	2 SubmittersRCV005645599
NM_000169.3(GLA):c.796G>A (p.Asp266Asn)	SNV Germline	ChrX:101398790	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352670	rs_869312407	2 SubmittersRCV003153189
NM_000169.3(GLA):c.793C>T (p.Pro265Ser)	SNV Germline	ChrX:101398793	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352484	rs_869312406	2 SubmittersRCV003143326 RCV005645455
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	4 SubmittersRCV000589425 RCV003137795
NM_000169.3(GLA):c.788A>G (p.Asn263Ser)	SNV Germline	ChrX:101398798	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352472	rs_869312404	2 SubmittersRCV001783365 RCV005645297
NM_000169.3(GLA):c.786G>C (p.Trp262Cys)	SNV Germline	ChrX:101398800	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312403	1 SubmittersRCV005645591
NM_000169.3(GLA):c.785G>T (p.Trp262Leu)	SNV Germline	ChrX:101398801	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312402	1 SubmittersRCV005645592
NM_000169.3(GLA):c.785G>A (p.Trp262Ter)	SNV Germline	ChrX:101398801	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352522	rs_869312402	2 SubmittersRCV000597147 RCV005645040
NM_000169.3(GLA):c.782G>T (p.Gly261Val)	SNV Germline	ChrX:101398804	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352632	rs_869312401	4 SubmittersRCV000780301
NM_000169.3(GLA):c.776C>T (p.Pro259Leu)	SNV Germline	ChrX:101398810	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312399	1 SubmittersRCV005645586
NM_000169.3(GLA):c.776C>G (p.Pro259Arg)	SNV Germline	ChrX:101398810	Pathogenic/Likely pathogenic	Fabry disease Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA352614	rs_869312399	7 SubmittersRCV000593162 RCV000726800 RCV005348079
NM_000169.3(GLA):c.749A>C (p.Gln250Pro)	SNV Germline	ChrX:101398837	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352896	rs_869312396	2 SubmittersRCV000556577
NM_000169.3(GLA):c.747C>A (p.Asn249Lys)	SNV Germline	ChrX:101398839	Conflicting classifications of pathogenicity	Fabry disease	Criteria Provided Conflicting Classifications		rs_782506652	2 SubmittersRCV004823556
NM_000169.3(GLA):c.739T>C (p.Ser247Pro)	SNV Germline	ChrX:101398847	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312393	1 SubmittersRCV005645571
NM_000169.3(GLA):c.716T>C (p.Ile239Thr)	SNV Germline	ChrX:101398870	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312388	1 SubmittersRCV005645560
NM_000169.3(GLA):c.708G>C (p.Trp236Cys)	SNV Germline	ChrX:101398878	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312386	1 SubmittersRCV005645555
NM_000169.3(GLA):c.671A>G (p.Asn224Ser)	SNV Germline	ChrX:101398915	Pathogenic/Likely pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA352926	rs_869312383	3 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	CA352720	rs_869312382	6 SubmittersRCV001194309 RCV001781620 RCV002363038
NM_000169.3(GLA):c.667T>G (p.Cys223Gly)	SNV Germline	ChrX:101398919	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312381	1 SubmittersRCV005645538
NM_000169.3(GLA):c.664T>G (p.Tyr222Asp)	SNV Germline	ChrX:101398922	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312380	1 SubmittersRCV005645536
NM_000169.3(GLA):c.648T>A (p.Tyr216Ter)	SNV Germline	ChrX:101398938	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312377	1 SubmittersRCV005644761
NM_000169.3(GLA):c.640-3C>G	SNV Germline	ChrX:101398949	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_782544621	1 SubmittersRCV005644715
NM_000169.3(GLA):c.640-859C>T	SNV Germline	ChrX:101399805	Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352961	rs_869312374	2 SubmittersRCV003509074
NM_000169.3(GLA):c.639+1G>A	SNV Germline	ChrX:101400665	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312353	1 SubmittersRCV005644804
NM_000169.3(GLA):c.638A>T (p.Lys213Met)	SNV Germline	ChrX:101400667	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312149	1 SubmittersRCV005645524
NM_000169.3(GLA):c.627G>A (p.Trp209Ter)	SNV Germline	ChrX:101400678	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_869312350	2 SubmittersRCV005644759
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	CA352973	rs_869312346	3 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	4 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	5 SubmittersRCV000359005 RCV000726225
NM_000169.3(GLA):c.572T>C (p.Leu191Pro)	SNV Germline	ChrX:101400733	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_111972736	1 SubmittersRCV005645011
NM_000169.3(GLA):c.560T>G (p.Met187Arg)	SNV Germline	ChrX:101400745	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312342	1 SubmittersRCV005645009
NM_000169.3(GLA):c.560T>C (p.Met187Thr)	SNV Germline	ChrX:101400745	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352650	rs_869312342	3 SubmittersRCV001090390 RCV004806209
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	CA352852	rs_869312340	4 SubmittersRCV001782186 RCV003152770
NM_000169.3(GLA):c.548G>C (p.Gly183Ala)	SNV Germline	ChrX:101400757	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_398123212	1 SubmittersRCV005645004
NM_000169.3(GLA):c.547+1G>A	SNV Germline	ChrX:101401631	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352933	rs_869312320	2 SubmittersRCV001970068
NM_000169.3(GLA):c.547G>A (p.Gly183Ser)	SNV Germline	ChrX:101401632	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA352572	rs_869312324	5 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	CA352479	rs_869312318	3 SubmittersRCV001783366 RCV002503264
NM_000169.3(GLA):c.511G>A (p.Gly171Ser)	SNV Germline	ChrX:101401668	Likely pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA352923	rs_869312317	3 SubmittersRCV001374747 RCV001781619
NM_000169.3(GLA):c.508G>A (p.Asp170Asn)	SNV Germline	ChrX:101401671	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312315	1 SubmittersRCV005644990
NM_000169.3(GLA):c.493G>C (p.Asp165His)	SNV Germline	ChrX:101401686	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312312	1 SubmittersRCV005644980
NM_000169.3(GLA):c.486G>C (p.Trp162Cys)	SNV Germline	ChrX:101401693	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312311	1 SubmittersRCV005644972
NM_000169.3(GLA):c.467C>T (p.Ala156Val)	SNV Germline	ChrX:101401712	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312307	1 SubmittersRCV005644969
NM_000169.3(GLA):c.467C>A (p.Ala156Asp)	SNV Germline	ChrX:101401712	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312307	1 SubmittersRCV005644968
NM_000169.3(GLA):c.463G>C (p.Asp155His)	SNV Germline	ChrX:101401716	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_113419388	1 SubmittersRCV005644967
NM_000169.3(GLA):c.453C>A (p.Tyr151Ter)	SNV Germline	ChrX:101401726	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312305	1 SubmittersRCV005644747
NM_000169.3(GLA):c.392T>C (p.Leu131Pro)	SNV Germline	ChrX:101401787	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312298	1 SubmittersRCV005644943
NM_000169.3(GLA):c.370-1G>T	SNV Germline	ChrX:101401810	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312287	1 SubmittersRCV005644796
NM_000169.3(GLA):c.370-1G>A	SNV Germline	ChrX:101401810	Pathogenic	Fabry disease	No Assertion Criteria Provided	CA352646	rs_869312287	1 SubmittersRCV000011465
NM_000169.3(GLA):c.369+1G>T	SNV Germline	ChrX:101403810	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_797044669	1 SubmittersRCV005644795
NM_000169.3(GLA):c.337T>C (p.Phe113Leu)	SNV Germline	ChrX:101403843	Pathogenic/Likely pathogenic	Fabry disease Fabry disease, cardiac variant Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA352519	rs_869312142	11 SubmittersRCV000991314 RCV001636724 RCV001781617 RCV002453751
NM_000169.3(GLA):c.334C>A (p.Arg112Ser)	SNV Germline	ChrX:101403846	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_104894834	2 SubmittersRCV005636438 RCV005645898
NM_000169.3(GLA):c.319C>T (p.Gln107Ter)	SNV Germline	ChrX:101403861	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312252	1 SubmittersRCV005644743
NM_000169.3(GLA):c.311G>A (p.Gly104Asp)	SNV Germline	ChrX:101403869	Conflicting classifications of pathogenicity	Fabry disease	Criteria Provided Conflicting Classifications	CA352569	rs_869312274	3 SubmittersRCV003985700
NM_000169.3(GLA):c.299G>A (p.Arg100Lys)	SNV Germline	ChrX:101403881	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312273	1 SubmittersRCV005644924
NM_000169.3(GLA):c.298A>T (p.Arg100Ter)	SNV Germline	ChrX:101403882	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352762	rs_869312272	2 SubmittersRCV001224303
NM_000169.3(GLA):c.281G>C (p.Cys94Ser)	SNV Germline	ChrX:101403899	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_113173389	2 SubmittersRCV005199155
NM_000169.3(GLA):c.277G>A (p.Asp93Asn)	SNV Germline	ChrX:101403903	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352482	rs_869312270	2 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	CA352928	rs_869312141	8 SubmittersRCV000732724 RCV001388247 RCV003417754
NM_000169.3(GLA):c.247G>A (p.Asp83Asn)	SNV Germline	ChrX:101403933	Conflicting classifications of pathogenicity	Fabry disease Condition: not provided Cardiovascular phenotype Charcot-Marie-Tooth disease	Criteria Provided Conflicting Classifications	CA030449	rs_782722577	14 SubmittersRCV000471970 RCV000596614 RCV002426973 RCV005625447
NM_000169.3(GLA):c.233C>G (p.Ser78Ter)	SNV Germline	ChrX:101403947	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312268	1 SubmittersRCV005644732
NM_000169.3(GLA):c.197A>G (p.Glu66Gly)	SNV Germline	ChrX:101403983	Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352977	rs_869312264	4 SubmittersRCV003487869 RCV003779245
NM_000169.3(GLA):c.194+1G>A	SNV Germline	ChrX:101407709	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352899	rs_868966337	2 SubmittersRCV003509076
NM_000169.3(GLA):c.170A>G (p.Gln57Arg)	SNV Germline	ChrX:101407734	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications	CA352488	rs_869312260	2 SubmittersRCV001762947 RCV005645292
NM_000169.3(GLA):c.169C>T (p.Gln57Ter)	SNV Germline	ChrX:101407735	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA352869	rs_869312259	4 SubmittersRCV001194305 RCV004596111
NM_000169.3(GLA):c.167G>T (p.Cys56Phe)	SNV Germline	ChrX:101407737	Conflicting classifications of pathogenicity	not specified Fabry disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA352731	rs_869312258	3 SubmittersRCV001193044 RCV005645039 RCV005348077
NM_000169.3(GLA):c.167G>A (p.Cys56Tyr)	SNV Germline	ChrX:101407737	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352477	rs_869312258	3 SubmittersRCV001379650
NM_000169.3(GLA):c.155G>C (p.Cys52Ser)	SNV Germline	ChrX:101407749	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_869312256	2 SubmittersRCV005644869
NM_000169.3(GLA):c.153G>T (p.Met51Ile)	SNV Germline	ChrX:101407751	Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352950	rs_869312255	2 SubmittersRCV001193644
NM_000169.3(GLA):c.144G>C (p.Glu48Asp)	SNV Germline	ChrX:101407760	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312254	1 SubmittersRCV005645761
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	CA352279	rs_797044613	5 SubmittersRCV000727558 RCV001063224 RCV003907777
NM_000169.3(GLA):c.122C>G (p.Thr41Ser)	SNV Germline	ChrX:101407782	Conflicting classifications of pathogenicity	Fabry disease Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA029760	rs_782362194	6 SubmittersRCV001181362 RCV002363037 RCV003133176
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	CA352666	rs_869312226	3 SubmittersRCV001782190 RCV002034593
NM_000169.3(GLA):c.92C>T (p.Ala31Val)	SNV Germline	ChrX:101407812	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352530	rs_869312448	3 SubmittersRCV001293631
NM_000169.3(GLA):c.72G>A (p.Trp24Ter)	SNV Germline	ChrX:101407832	Pathogenic	Cardiovascular phenotype Fabry disease	Criteria Provided Multiple Submitters No Conflicts		rs_869312392	2 SubmittersRCV005346018 RCV005645882
NM_000169.3(GLA):c.71G>A (p.Trp24Ter)	SNV Germline	ChrX:101407833	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312390	1 SubmittersRCV005644725
NM_000169.3(GLA):c.47T>G (p.Leu16Arg)	SNV Germline	ChrX:101407857	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312310	1 SubmittersRCV005644892
NM_000169.3(GLA):c.44C>A (p.Ala15Glu)	SNV Germline	ChrX:101407860	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352491	rs_869312304	3 SubmittersRCV003041471
NM_000169.3(GLA):c.43G>C (p.Ala15Pro)	SNV Germline	ChrX:101407861	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312303	1 SubmittersRCV005644868
NM_000169.3(GLA):c.36C>A (p.Cys12Ter)	SNV Germline	ChrX:101407868	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312283	1 SubmittersRCV005644724
NM_000169.3(GLA):c.13A>G (p.Asn5Asp)	SNV Germline	ChrX:101407891	Conflicting classifications of pathogenicity	Fabry disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA030007	rs_782442966	4 SubmittersRCV001190922 RCV005841531
NM_000169.3(GLA):c.4C>T (p.Gln2Ter)	SNV Germline	ChrX:101407900	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352509	rs_869312313	3 SubmittersRCV001293580
NM_000169.3(GLA):c.1A>G (p.Met1Val)	SNV Germline	ChrX:101407903	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA352616	rs_869312265	4 SubmittersRCV001783375 RCV003509694 RCV003375362
NM_000169.3(GLA):c.-44C>T	SNV Germline	ChrX:101407947	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications	CA352290	rs_781906252	5 SubmittersRCV000827826 RCV001828045
NM_000169.3(GLA):c.1229C>T (p.Thr410Ile)	SNV Germline	ChrX:101397870	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA352414	rs_730880442	2 SubmittersRCV000208140
NM_000169.3(GLA):c.797A>C (p.Asp266Ala)	SNV Germline	ChrX:101398789	Conflicting classifications of pathogenicity	not specified Fabry disease	Criteria Provided Conflicting Classifications	CA10577207	rs_28935487	3 SubmittersRCV000216195 RCV005237731
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	3 SubmittersRCV000226316 RCV000726826
NM_000169.3(GLA):c.1081G>A (p.Gly361Arg)	SNV Germline	ChrX:101398018	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA10584626	rs_28935494	3 SubmittersRCV000235836 RCV005090190
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	6 SubmittersRCV000235716 RCV000692369
NM_000169.3(GLA):c.596T>C (p.Val199Ala)	SNV Germline	ChrX:101400709	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA031465	rs_781871113	11 SubmittersRCV000724981 RCV001229433 RCV005572290
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	5 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	6 SubmittersRCV000286285 RCV000723404
NM_000169.3(GLA):c.268T>C (p.Cys90Arg)	SNV Germline	ChrX:101403912	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications	CA10603766	rs_886044767	2 SubmittersRCV000341522 RCV005645063
NM_000169.3(GLA):c.979C>T (p.Gln327Ter)	SNV Germline	ChrX:101398390	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA10603787	rs_28935491	3 SubmittersRCV000399330 RCV005431586
NM_000169.3(GLA):c.1181T>C (p.Leu394Pro)	SNV Germline	ChrX:101397918	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10603946	rs_886044779	12 SubmittersRCV000316758 RCV001183037 RCV002328756
NM_000169.3(GLA):c.806T>A (p.Val269Glu)	SNV Germline	ChrX:101398563	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications	CA10603987	rs_28935488	3 SubmittersRCV000378974 RCV005645064
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	6 SubmittersRCV000305413 RCV000781431
NM_000169.3(GLA):c.424T>C (p.Cys142Arg)	SNV Germline	ChrX:101401755	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA10605183	rs_886044845	2 SubmittersRCV000301351 RCV005645066
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	6 SubmittersRCV000317291 RCV000984268
NM_000169.3(GLA):c.614C>T (p.Pro205Leu)	SNV Germline	ChrX:101400691	Pathogenic/Likely pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10606043	rs_886044879	5 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	5 SubmittersRCV000291619 RCV000763197
NM_000169.3(GLA):c.127G>A (p.Gly43Ser)	SNV Germline	ChrX:101407777	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA10606899	rs_886044906	3 SubmittersRCV000298627 RCV005645068
NM_000169.3(GLA):c.244A>T (p.Lys82Ter)	SNV Unknown	ChrX:101403936	Likely pathogenic	Fabry disease	No Assertion Criteria Provided	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 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA029647	rs_144994244	7 SubmittersRCV000418968 RCV000468186 RCV001507538 RCV005572316
NM_000169.3(GLA):c.-13G>C	SNV Germline	ChrX:101407916	Conflicting classifications of pathogenicity	not specified Fabry disease	Criteria Provided Conflicting Classifications	CA16608664	rs_782051708	3 SubmittersRCV000429166 RCV001187598
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	4 SubmittersRCV000424225 RCV001807250
NM_000169.3(GLA):c.1184G>C (p.Gly395Ala)	SNV Germline	ChrX:101397915	Conflicting classifications of pathogenicity	Fabry disease Condition: not provided	Criteria Provided Conflicting Classifications	CA029729	rs_375661583	7 SubmittersRCV000462655 RCV003488603
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	4 SubmittersRCV000475829 RCV000723440
NM_000169.3(GLA):c.1241T>C (p.Leu414Ser)	SNV Germline	ChrX:101397858	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA16621160	rs_869312246	2 SubmittersRCV000478338 RCV005645092
NM_000169.3(GLA):c.326A>G (p.Asp109Gly)	SNV Germline	ChrX:101403854	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA16621162	rs_1064794205	6 SubmittersRCV000484456 RCV002248700
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	5 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	5 SubmittersRCV000525086 RCV000590425
NM_000169.3(GLA):c.476T>G (p.Phe159Cys)	SNV Germline	ChrX:101401703	Conflicting classifications of pathogenicity	Fabry disease	Criteria Provided Conflicting Classifications	CA413929340	rs_1555985814	2 SubmittersRCV000554768
NM_000169.3(GLA):c.802-2A>T	SNV Germline	ChrX:101398569	Pathogenic/Likely pathogenic	Fabry disease Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA413923565	rs_797044499	3 SubmittersRCV000587754 RCV005348157
NM_000169.3(GLA):c.132G>T (p.Trp44Cys)	SNV Germline	ChrX:101407772	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications	CA413937124	rs_398123202	4 SubmittersRCV000588414 RCV001807298
NM_000169.3(GLA):c.1225C>G (p.Pro409Ala)	SNV Germline	ChrX:101397874	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413919170	rs_878853698	2 SubmittersRCV000586514
NM_000169.3(GLA):c.1021G>T (p.Glu341Ter)	SNV Germline	ChrX:101398078	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413921209	rs_869312214	2 SubmittersRCV000589205
NM_000169.3(GLA):c.958A>C (p.Asn320His)	SNV Germline	ChrX:101398411	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications	CA413921585	rs_1555984950	4 SubmittersRCV000590118 RCV005091534
NM_000169.3(GLA):c.2T>C (p.Met1Thr)	SNV Germline	ChrX:101407902	Pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA413937947	rs_1555987232	6 SubmittersRCV000586866 RCV000731977
NM_000169.3(GLA):c.439G>A (p.Gly147Arg)	SNV Germline	ChrX:101401740	Pathogenic/Likely pathogenic	Fabry disease Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA413929962	rs_1555985830	4 SubmittersRCV000589918 RCV005338259
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	4 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	3 SubmittersRCV000593774 RCV003509574
NM_000169.3(GLA):c.100A>G (p.Asn34Asp)	SNV Germline	ChrX:101407804	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications	CA413937393	rs_1555987150	2 SubmittersRCV000593782 RCV005645108
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	4 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	3 SubmittersRCV000591773 RCV003509575
NM_000169.3(GLA):c.670A>G (p.Asn224Asp)	SNV Germline	ChrX:101398916	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413924981	rs_1555985175	2 SubmittersRCV000594508 RCV005645110
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	6 SubmittersRCV000609780 RCV001325331 RCV003302951
NM_000169.3(GLA):c.667T>C (p.Cys223Arg)	SNV Germline	ChrX:101398919	Pathogenic/Likely pathogenic	Cardiovascular phenotype Hypertrophic cardiomyopathy Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413925007	rs_869312381	3 SubmittersRCV000618471 RCV001270059 RCV005645116
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 Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA413923213	rs_1555985010	5 SubmittersRCV000627821 RCV004760656 RCV004992409
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	CA413921215	rs_1555984869	5 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	CA413921070	rs_1555984843	2 SubmittersRCV000659174 RCV004004196
NM_000169.3(GLA):c.548G>A (p.Gly183Asp)	SNV Germline	ChrX:101400757	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413928004	rs_398123212	4 SubmittersRCV000681892 RCV002477519
NM_000169.3(GLA):c.730G>C (p.Asp244His)	SNV Germline	ChrX:101398856	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications	CA413924412	rs_727503948	3 SubmittersRCV000681910 RCV002499207
NM_000169.3(GLA):c.748C>A (p.Gln250Lys)	SNV Germline	ChrX:101398838	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter	CA413924223	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	CA333093898	rs_782722844	9 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	CA413924785	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	CA413937322	rs_869312226	4 SubmittersRCV000685810 RCV000734407
NM_000169.3(GLA):c.620A>C (p.Tyr207Ser)	SNV Germline	ChrX:101400685	Pathogenic/Likely pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA413927225	rs_797044727	4 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	CA413937429	rs_1569306168	5 SubmittersRCV000727580 RCV003509593
NM_000169.3(GLA):c.126G>C (p.Met42Ile)	SNV Germline	ChrX:101407778	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413937183	rs_1569306108	3 SubmittersRCV000729336 RCV005645164
NM_000169.3(GLA):c.290C>T (p.Ala97Val)	SNV Germline	ChrX:101403890	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413933573	rs_1569304867	5 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	CA413933914	rs_1569304898	5 SubmittersRCV000730015 RCV001855746 RCV002424744
NM_000169.3(GLA):c.254G>T (p.Gly85Val)	SNV Germline	ChrX:101403926	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications	CA413933908	rs_1569304898	3 SubmittersRCV000730039 RCV005645165
NM_000169.3(GLA):c.893A>G (p.Asn298Ser)	SNV Germline	ChrX:101398476	Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413922331	rs_1569302985	2 SubmittersRCV000730379 RCV005645167
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	CA413936631	rs_1569306022	3 SubmittersRCV000730949 RCV002535181
NM_000169.3(GLA):c.896A>G (p.Asp299Gly)	SNV Germline	ChrX:101398473	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413922296	rs_1569302982	2 SubmittersRCV000732603 RCV005645169
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	CA413933910	rs_1569304898	2 SubmittersRCV000732723 RCV001855691
NM_000169.3(GLA):c.640-1G>A	SNV Germline	ChrX:101398947	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413925176	rs_398123216	7 SubmittersRCV000733701 RCV000781421
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	CA413930599	rs_1183869568	4 SubmittersRCV000760339 RCV003479214
NM_000169.3(GLA):c.874G>C (p.Ala292Pro)	SNV Germline	ChrX:101398495	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413922589	rs_111812846	2 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	CA413924035	rs_1569303218	4 SubmittersRCV000781428
NM_000169.3(GLA):c.604T>C (p.Cys202Arg)	SNV Germline	ChrX:101400701	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413927367	rs_1569303843	4 SubmittersRCV001039833
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	CA413929898	rs_1569304190	4 SubmittersRCV000781430 RCV003372841
NM_000169.3(GLA):c.404C>T (p.Ala135Val)	SNV Germline	ChrX:101401775	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413930548	rs_1569304221	4 SubmittersRCV000780295
NM_000169.3(GLA):c.307G>T (p.Glu103Ter)	SNV Germline	ChrX:101403873	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413933417	rs_1569304851	2 SubmittersRCV000781429
NM_000169.3(GLA):c.266T>G (p.Leu89Arg)	SNV Germline	ChrX:101403914	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413933787	rs_1569304886	3 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	CA413937240	rs_398123199	4 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	CA915951298	rs_1603040008	3 SubmittersRCV000788404 RCV003238213
NM_000169.3(GLA):c.695T>C (p.Ile232Thr)	SNV Germline	ChrX:101398891	Pathogenic/Likely pathogenic	Fabry disease Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA413924759	rs_797044749	6 SubmittersRCV000817070 RCV001784443 RCV002372311
NM_000169.3(GLA):c.520T>C (p.Cys174Arg)	SNV Germline	ChrX:101401659	Pathogenic	Fabry disease	Criteria Provided Single Submitter	CA413928761	rs_181562693	1 SubmittersRCV000794754
NM_000169.3(GLA):c.1042G>C (p.Ala348Pro)	SNV Germline	ChrX:101398057	Pathogenic/Likely pathogenic	Primary familial hypertrophic cardiomyopathy Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413921117	rs_1603037717	2 SubmittersRCV000845520 RCV005645189
NM_000169.3(GLA):c.869T>C (p.Met290Thr)	SNV Germline	ChrX:101398500	Likely pathogenic	Primary familial hypertrophic cardiomyopathy Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413922640	rs_1603038411	2 SubmittersRCV000845515 RCV005645188
NM_000169.3(GLA):c.476T>C (p.Phe159Ser)	SNV Unknown	ChrX:101401703	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter	CA413929344	rs_1555985814	1 SubmittersRCV000990920
NM_000169.3(GLA):c.950T>C (p.Ile317Thr)	SNV Germline	ChrX:101398419	Pathogenic	Fabry disease Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA16020707	rs_869312158	3 SubmittersRCV001047256 RCV004994203
NM_000169.3(GLA):c.889T>C (p.Ser297Pro)	SNV Germline	ChrX:101398480	Pathogenic/Likely pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA413922390	rs_1928167952	3 SubmittersRCV001041450 RCV004590042
NM_000169.3(GLA):c.361G>C (p.Ala121Pro)	SNV Germline	ChrX:101403819	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413932808	rs_782197638	2 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	CA413934691	rs_1928411447	3 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	CA413937839	rs_1555987214	5 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	CA390747959	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	CA413933532	rs_868937910	3 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	CA413937689	rs_1928592578	3 SubmittersRCV001174874
NM_000169.3(GLA):c.717A>G (p.Ile239Met)	SNV Germline	ChrX:101398869	Conflicting classifications of pathogenicity	Fabry disease	Criteria Provided Conflicting Classifications	CA413924561	rs_1928192530	5 SubmittersRCV001187084
NM_000169.3(GLA):c.585C>T (p.Gly195=)	SNV Germline	ChrX:101400720	Conflicting classifications of pathogenicity	Fabry disease	Criteria Provided Conflicting Classifications	CA517520678	rs_1928285510	3 SubmittersRCV001192310
NM_000169.3(GLA):c.194+6A>G	SNV Germline	ChrX:101407704	Conflicting classifications of pathogenicity	Fabry disease	Criteria Provided Conflicting Classifications	CA037779	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	CA413920866	rs_797044774	1 SubmittersRCV001193043
NM_000169.3(GLA):c.1045T>C (p.Trp349Arg)	SNV Germline	ChrX:101398054	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413921097	rs_1928137126	2 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	CA413921519	rs_1928161905	3 SubmittersRCV001193046 RCV002375120
NM_000169.3(GLA):c.894T>A (p.Asn298Lys)	SNV Germline	ChrX:101398475	Pathogenic	Fabry disease Thyroid cancer, nonmedullary, 1	Criteria Provided Multiple Submitters No Conflicts	CA413922319	rs_869312444	3 SubmittersRCV001193068 RCV005908931
NM_000169.3(GLA):c.851T>C (p.Met284Thr)	SNV Germline	ChrX:101398518	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413922855	rs_1928171557	3 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	CA413924194	rs_1928189534	3 SubmittersRCV001194304 RCV001780101
NM_000169.3(GLA):c.706T>C (p.Trp236Arg)	SNV Germline	ChrX:101398880	Pathogenic/Likely pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA413924696	rs_1555985148	3 SubmittersRCV001192394 RCV004702683
NM_000169.3(GLA):c.688G>A (p.Ala230Thr)	SNV Germline	ChrX:101398898	Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413924824	rs_1928195468	3 SubmittersRCV001192395
NM_000169.3(GLA):c.409G>T (p.Val137Phe)	SNV Germline	ChrX:101401770	Conflicting classifications of pathogenicity	not specified Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications	CA413930470	rs_1928326653	3 SubmittersRCV001194308 RCV003130175 RCV005645221
NM_000169.3(GLA):c.406G>T (p.Asp136Tyr)	SNV Germline	ChrX:101401773	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413930525	rs_1928326804	2 SubmittersRCV001193641
NM_000169.3(GLA):c.154T>G (p.Cys52Gly)	SNV Germline	ChrX:101407750	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413936907	rs_1057521047	3 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	CA413936918	rs_869312255	4 SubmittersRCV001194306
NM_000169.3(GLA):c.128G>T (p.Gly43Val)	SNV Germline	ChrX:101407776	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413937161	rs_1928583820	2 SubmittersRCV001193639
NM_000169.3(GLA):c.801+1G>C	SNV Germline	ChrX:101398784	Pathogenic/Likely pathogenic	Fabry disease Thyroid cancer, nonmedullary, 1	Criteria Provided Multiple Submitters No Conflicts	CA413923758	rs_868923658	3 SubmittersRCV001193069 RCV005908932
NM_000169.3(GLA):c.281G>T (p.Cys94Phe)	SNV Germline	ChrX:101403899	Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413933700	rs_113173389	3 SubmittersRCV001201250
NM_000169.3(GLA):c.673C>G (p.His225Asp)	SNV Germline	ChrX:101398913	Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413924951	rs_1928196686	2 SubmittersRCV001216323
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	CA413930427	rs_1928326107	5 SubmittersRCV001217560 RCV001780137
NM_000169.3(GLA):c.431G>T (p.Gly144Val)	SNV Germline	ChrX:101401748	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413930045	rs_782085638	2 SubmittersRCV001206271
NM_000169.3(GLA):c.639+5G>A	SNV Germline	ChrX:101400661	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA1139667723	rs_1928277140	2 SubmittersRCV001217567
NM_000169.3(GLA):c.811G>A (p.Gly271Ser)	SNV Germline	ChrX:101398558	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413923429	rs_1928174707	2 SubmittersRCV001238670
NM_000169.3(GLA):c.646T>G (p.Tyr216Asp)	SNV Germline	ChrX:101398940	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413925122	rs_1928199003	3 SubmittersRCV004699224 RCV001236826
NM_000169.3(GLA):c.782G>A (p.Gly261Asp)	SNV Germline	ChrX:101398804	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413923937	rs_869312401	3 SubmittersRCV001255564
NM_000169.3(GLA):c.1244T>G (p.Leu415Arg)	SNV Germline	ChrX:101397855	Conflicting classifications of pathogenicity	not specified Fabry disease	Criteria Provided Conflicting Classifications	CA413919010	rs_112341092	2 SubmittersRCV001260336 RCV005645240
NM_000169.3(GLA):c.350T>G (p.Ile117Ser)	SNV Germline	ChrX:101403830	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA333095131	rs_12392549	2 SubmittersRCV001260301
NM_000169.3(GLA):c.500T>C (p.Leu167Pro)	SNV Germline	ChrX:101401679	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413929028	rs_1928319806	3 SubmittersRCV001269208
NM_000169.3(GLA):c.676T>A (p.Trp226Arg)	SNV Germline	ChrX:101398910	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413924928	rs_1928196393	2 SubmittersRCV001269588 RCV005645244
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	CA413921088	rs_869312218	5 SubmittersRCV001280595 RCV002282509
NM_000169.3(GLA):c.136C>T (p.His46Tyr)	SNV Germline	ChrX:101407768	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413937089	rs_1928582757	2 SubmittersRCV001280630
NM_000169.3(GLA):c.1061T>A (p.Ile354Lys)	SNV Germline	ChrX:101398038	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413920965	rs_1928135337	4 SubmittersRCV001280904
NM_000169.3(GLA):c.890C>A (p.Ser297Tyr)	SNV Germline	ChrX:101398479	Pathogenic/Likely pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA413922381	rs_28935489	3 SubmittersRCV002543011 RCV004812398
NM_000169.3(GLA):c.275A>G (p.Asp92Gly)	SNV Germline	ChrX:101403905	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413933748	rs_1928406948	2 SubmittersRCV001290611
NM_000169.3(GLA):c.187T>C (p.Cys63Arg)	SNV Germline	ChrX:101407717	Conflicting classifications of pathogenicity	not specified Fabry disease	Criteria Provided Conflicting Classifications	CA413936636	rs_1928578294	2 SubmittersRCV001290654 RCV005645249
NM_000169.3(GLA):c.884T>G (p.Phe295Cys)	SNV Germline	ChrX:101398485	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413922484	rs_1928168711	2 SubmittersRCV001293628
NM_000169.3(GLA):c.550T>G (p.Tyr184Asp)	SNV Germline	ChrX:101400755	Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413927985	rs_1928287649	2 SubmittersRCV001293627
NM_000169.3(GLA):c.412G>A (p.Gly138Arg)	SNV Germline	ChrX:101401767	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413930442	rs_1928326524	2 SubmittersRCV001293629
NM_000169.3(GLA):c.370-2A>C	SNV Germline	ChrX:101401811	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413931058	rs_730880444	2 SubmittersRCV001293592
NM_000169.3(GLA):c.56T>A (p.Leu19Gln)	SNV Germline	ChrX:101407848	Conflicting classifications of pathogenicity	not specified Fabry disease	Criteria Provided Conflicting Classifications	CA413937691	rs_1928592578	2 SubmittersRCV001293632 RCV005645250
NM_000169.3(GLA):c.1115T>C (p.Leu372Pro)	SNV Germline	ChrX:101397984	Conflicting classifications of pathogenicity	Fabry disease	Criteria Provided Conflicting Classifications	CA413920582	rs_1928127729	2 SubmittersRCV001298998
NM_000169.3(GLA):c.1076T>C (p.Ile359Thr)	SNV Germline	ChrX:101398023	Conflicting classifications of pathogenicity	Fabry disease	Criteria Provided Conflicting Classifications	CA413920826	rs_1928132914	2 SubmittersRCV001321822
NM_000169.3(GLA):c.242G>C (p.Trp81Ser)	SNV Germline	ChrX:101403938	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413934061	rs_398123208	2 SubmittersRCV001328356
NM_000169.3(GLA):c.454T>G (p.Tyr152Asp)	SNV Germline	ChrX:101401725	Likely pathogenic	Fabry disease Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA413929706	rs_1928323615	2 SubmittersRCV001341700 RCV006347710
NM_000169.3(GLA):c.800T>G (p.Met267Arg)	SNV Germline	ChrX:101398786	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413923775	rs_869312408	2 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	CA413923309	rs_2147472458	3 SubmittersRCV001368747 RCV003130507
NM_000169.3(GLA):c.547+3A>G	SNV Germline	ChrX:101401629	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA2499226276	rs_1351477965	2 SubmittersRCV001368906
NM_000169.3(GLA):c.924A>C (p.Lys308Asn)	SNV Germline	ChrX:101398445	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413921997	rs_2147472050	2 SubmittersRCV001374746
NM_000169.3(GLA):c.835C>T (p.Gln279Ter)	SNV Germline	ChrX:101398534	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413923052	rs_28935485	2 SubmittersRCV001374744
NM_000169.3(GLA):c.453C>G (p.Tyr151Ter)	SNV Germline	ChrX:101401726	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413929715	rs_869312305	3 SubmittersRCV001374743
NM_000169.3(GLA):c.280T>A (p.Cys94Ser)	SNV Germline	ChrX:101403900	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413933715	rs_2147480697	2 SubmittersRCV001374745
NM_000169.3(GLA):c.3G>A (p.Met1Ile)	SNV Germline	ChrX:101407901	Pathogenic/Likely pathogenic	Fabry disease Cardiovascular phenotype Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA413937941	rs_2147487910	5 SubmittersRCV001375575 RCV004629626 RCV005630272
NM_000169.3(GLA):c.778G>A (p.Gly260Arg)	SNV Germline	ChrX:101398808	Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413923991	rs_2147472959	2 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	CA413919083	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	CA413930844	rs_2147477845	4 SubmittersRCV001381526
NM_000169.3(GLA):c.369+2T>A	SNV Germline	ChrX:101403809	Pathogenic	Fabry disease	Criteria Provided Single Submitter	CA413932681	rs_387906483	1 SubmittersRCV001388694
NM_000169.3(GLA):c.878C>T (p.Pro293Leu)	SNV Germline	ChrX:101398491	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413922571	rs_869312441	2 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	CA517736489	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	CA413932848	rs_2147480438	3 SubmittersRCV001420835
NM_000169.3(GLA):c.1000-9G>A	SNV Germline	ChrX:101398108	Conflicting classifications of pathogenicity	Fabry disease	Criteria Provided Conflicting Classifications	CA2448297857	rs_1928143594	2 SubmittersRCV001445108
NM_000169.3(GLA):c.548-7C>T	SNV Germline	ChrX:101400764	Conflicting classifications of pathogenicity	Fabry disease	Criteria Provided Conflicting Classifications	CA2499226274	rs_2147476255	2 SubmittersRCV001442779
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	CA517525308	rs_1555987080	4 SubmittersRCV001473670 RCV002414139
NM_000169.3(GLA):c.576T>C (p.Asn192=)	SNV Germline	ChrX:101400729	Conflicting classifications of pathogenicity	Fabry disease	Criteria Provided Conflicting Classifications	CA517520731	rs_2147476101	2 SubmittersRCV001483363
NM_000169.3(GLA):c.897C>A (p.Asp299Glu)	SNV Germline	ChrX:101398472	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications	CA413922275	rs_2147472136	2 SubmittersRCV001507539 RCV005645279
NM_000169.3(GLA):c.1060A>G (p.Ile354Val)	SNV Germline	ChrX:101398039	Conflicting classifications of pathogenicity	Fabry disease	Criteria Provided Conflicting Classifications	CA029460	rs_782200316	4 SubmittersRCV001526225
NM_000169.3(GLA):c.274G>C (p.Asp92His)	SNV Germline	ChrX:101403906	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413933757	rs_886041315	2 SubmittersRCV001553582
NM_000169.3(GLA):c.170A>C (p.Gln57Pro)	SNV Germline	ChrX:101407734	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter	CA413936796	rs_869312260	1 SubmittersRCV001563580
NM_000169.3(GLA):c.956T>C (p.Ile319Thr)	SNV Germline	ChrX:101398413	Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Single Submitter	CA413921601	rs_2147471929	5 SubmittersRCV001699650 RCV005645289
NM_000169.3(GLA):c.1A>C (p.Met1Leu)	SNV Germline	ChrX:101407903	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_869312265	1 SubmittersRCV005644566
NM_000169.3(GLA):c.997C>T (p.Gln333Ter)	SNV Germline	ChrX:101398372	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413921275	rs_2147471760	2 SubmittersRCV001783369 RCV005645298
NM_000169.3(GLA):c.2T>A (p.Met1Lys)	SNV Germline	ChrX:101407902	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413937946	rs_1555987232	2 SubmittersRCV002246498
NM_000169.3(GLA):c.671A>C (p.Asn224Thr)	SNV Germline	ChrX:101398915	Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413924971	rs_869312383	2 SubmittersRCV001782184 RCV005645301
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	CA413922271	rs_2147472132	4 SubmittersRCV001782185 RCV003509695
NM_000169.3(GLA):c.401A>C (p.Tyr134Ser)	SNV Germline	ChrX:101401778	Pathogenic	Fabry disease	Criteria Provided Single Submitter		rs_2147477791	1 SubmittersRCV005644949
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	CA413921198	rs_1555984858	5 SubmittersRCV001782191 RCV001806264
NM_000169.3(GLA):c.674A>G (p.His225Arg)	SNV Germline	ChrX:101398912	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413924944	rs_2147473301	3 SubmittersRCV001782193 RCV002541195
NM_000169.3(GLA):c.178C>T (p.Pro60Ser)	SNV Germline	ChrX:101407726	Conflicting classifications of pathogenicity	Fabry disease Condition: not provided	Criteria Provided Conflicting Classifications	CA413936715	rs_727504689	3 SubmittersRCV001784081 RCV005635209
NM_000169.3(GLA):c.61C>T (p.Leu21Phe)	SNV Germline	ChrX:101407843	Conflicting classifications of pathogenicity	Fabry disease	Criteria Provided Conflicting Classifications	CA031556	rs_782164084	2 SubmittersRCV001789803
NM_000169.3(GLA):c.656T>C (p.Ile219Thr)	SNV Germline	ChrX:101398930	Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413925068	rs_2147473404	2 SubmittersRCV001789804
NM_000169.3(GLA):c.53T>C (p.Phe18Ser)	SNV Germline	ChrX:101407851	Pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413937712	rs_2147487622	5 SubmittersRCV001794976 RCV005645305
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	CA413929172	rs_869312311	3 SubmittersRCV001799418 RCV002503288
NM_000169.3(GLA):c.195-2A>G	SNV Germline	ChrX:101403987	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413934816	rs_2147480960	2 SubmittersRCV001815142
NM_000169.3(GLA):c.504A>C (p.Lys168Asn)	SNV Germline	ChrX:101401675	Pathogenic	Nephrotic syndrome Fabry disease	Criteria Provided Single Submitter	CA413928983	rs_2147477422	2 SubmittersRCV001849885 RCV005645311
NM_000169.3(GLA):c.605G>C (p.Cys202Ser)	SNV Germline	ChrX:101400700	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter	CA413927355	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	CA413923423	rs_869312429	3 SubmittersRCV002013540 RCV002423245
NM_000169.3(GLA):c.639+2T>C	SNV Germline	ChrX:101400664	Pathogenic/Likely pathogenic	Fabry disease Nonpapillary renal cell carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA413927014	rs_2147475773	3 SubmittersRCV002013573 RCV005925606
NM_000169.3(GLA):c.640-2A>G	SNV Germline	ChrX:101398948	Pathogenic	Fabry disease	Criteria Provided Single Submitter	CA413925193	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	CA413922414	rs_104894846	2 SubmittersRCV001919968
NM_000169.3(GLA):c.546T>C (p.Asp182=)	SNV Germline	ChrX:101401633	Conflicting classifications of pathogenicity	Fabry disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA517521823	rs_2147477318	4 SubmittersRCV001925934 RCV005350748
NM_000169.3(GLA):c.1118G>T (p.Gly373Val)	SNV Germline	ChrX:101397981	Pathogenic	Fabry disease	Criteria Provided Single Submitter	CA413920532	rs_869312227	1 SubmittersRCV001946593
NM_000169.3(GLA):c.127G>C (p.Gly43Arg)	SNV Germline	ChrX:101407777	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413937174	rs_886044906	2 SubmittersRCV001956188
NM_000169.3(GLA):c.700G>T (p.Asp234Tyr)	SNV Germline	ChrX:101398886	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413924718	rs_1057524557	2 SubmittersRCV001941262
NM_000169.3(GLA):c.338T>C (p.Phe113Ser)	SNV Germline	ChrX:101403842	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413933031	rs_2147480502	2 SubmittersRCV001963157
NM_000169.3(GLA):c.874G>A (p.Ala292Thr)	SNV Germline	ChrX:101398495	Conflicting classifications of pathogenicity	Fabry disease	Criteria Provided Conflicting Classifications	CA333093204	rs_111812846	3 SubmittersRCV001928138
NM_000169.3(GLA):c.708G>A (p.Trp236Ter)	SNV Germline	ChrX:101398878	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413924688	rs_869312386	2 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	CA413927258	rs_397515870	4 SubmittersRCV002293713 RCV003097834
NM_000169.3(GLA):c.936G>C (p.Gln312His)	SNV Germline	ChrX:101398433	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413921800	rs_570042882	2 SubmittersRCV002293968
NM_000169.3(GLA):c.512G>A (p.Gly171Asp)	SNV Germline	ChrX:101401667	Pathogenic/Likely pathogenic	Cardiovascular phenotype Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413928836	rs_2520895216	3 SubmittersRCV002344217 RCV003340486
NM_000169.3(GLA):c.540G>C (p.Leu180Phe)	SNV Germline	ChrX:101401639	Conflicting classifications of pathogenicity	Cardiovascular phenotype Fabry disease	Criteria Provided Conflicting Classifications	CA413928500	rs_869312145	3 SubmittersRCV002349418 RCV005645380
NM_000169.3(GLA):c.47T>C (p.Leu16Pro)	SNV Germline	ChrX:101407857	Pathogenic/Likely pathogenic	Cardiovascular phenotype Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413937741	rs_869312310	3 SubmittersRCV002337874 RCV003096472
NM_000169.3(GLA):c.374A>T (p.His125Leu)	SNV Germline	ChrX:101401805	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413930937	rs_2520897937	2 SubmittersRCV002471484
NM_000169.3(GLA):c.383G>A (p.Gly128Glu)	SNV Germline	ChrX:101401796	Conflicting classifications of pathogenicity	Fabry disease Condition: not provided	Criteria Provided Conflicting Classifications	CA413930789	rs_2520897726	3 SubmittersRCV002471495 RCV004700768
NM_000169.3(GLA):c.983G>A (p.Gly328Glu)	SNV Germline	ChrX:101398386	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413921320	rs_28935492	3 SubmittersRCV003066349
NM_000169.3(GLA):c.845C>A (p.Thr282Asn)	SNV Germline	ChrX:101398524	Conflicting classifications of pathogenicity	Fabry disease	Criteria Provided Conflicting Classifications	CA413922960	rs_2520864023	2 SubmittersRCV003066352
NM_000169.3(GLA):c.426C>A (p.Cys142Ter)	SNV Germline	ChrX:101401753	Pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413930126	rs_1421866281	3 SubmittersRCV003050638
NM_000169.3(GLA):c.358C>G (p.Leu120Val)	SNV Germline	ChrX:101403822	Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413932816	rs_2520911966	2 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	CA16602197	rs_2520914744	3 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	CA413937084	rs_398123203	4 SubmittersRCV003066356 RCV003491211
NM_000169.3(GLA):c.118C>G (p.Pro40Ala)	SNV Germline	ChrX:101407786	Conflicting classifications of pathogenicity	Fabry disease	Criteria Provided Conflicting Classifications	CA413937249	rs_104894831	2 SubmittersRCV003050639
NM_000169.3(GLA):c.215T>C (p.Met72Thr)	SNV Germline	ChrX:101403965	Conflicting classifications of pathogenicity	Fabry disease	Criteria Provided Conflicting Classifications	CA413934453	rs_1569304920	2 SubmittersRCV003062810
NM_000169.3(GLA):c.548-5T>A	SNV Germline	ChrX:101400762	Conflicting classifications of pathogenicity	Fabry disease	Criteria Provided Conflicting Classifications	CA2580100070	rs_2147476253	3 SubmittersRCV003021624
NM_000169.3(GLA):c.194+1G>T	SNV Germline	ChrX:101407709	Pathogenic	Fabry disease Nonpapillary renal cell carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA413936542	rs_868966337	3 SubmittersRCV003026559 RCV005926800
NM_000169.3(GLA):c.316C>T (p.Leu106Phe)	SNV Germline	ChrX:101403864	Conflicting classifications of pathogenicity	Condition: not provided Fabry disease	Criteria Provided Conflicting Classifications	CA413933314	rs_1178979608	3 SubmittersRCV003131020 RCV005645449
NM_000169.3(GLA):c.145C>A (p.Arg49Ser)	SNV Germline	ChrX:101407759	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413937009	rs_2520943698	2 SubmittersRCV003135372 RCV005645450
NM_000169.3(GLA):c.1166C>T (p.Pro389Leu)	SNV Germline	ChrX:101397933	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413919970	rs_2520850221	2 SubmittersRCV003143308 RCV005645453
NM_000169.3(GLA):c.779G>T (p.Gly260Val)	SNV Unknown	ChrX:101398807	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter	CA413923957	rs_2520869335	1 SubmittersRCV003153125
NM_000169.3(GLA):c.796G>C (p.Asp266His)	SNV Germline	ChrX:101398790	Conflicting classifications of pathogenicity	Cardiovascular phenotype Fabry disease	Criteria Provided Conflicting Classifications	CA413923816	rs_869312407	2 SubmittersRCV003305372 RCV005645466
NM_000169.3(GLA):c.1168G>A (p.Val390Met)	SNV Germline	ChrX:101397931	Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413919966	rs_1555984776	2 SubmittersRCV003317714
NM_000169.3(GLA):c.1133G>A (p.Cys378Tyr)	SNV Germline	ChrX:101397966	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413920360	rs_2520851123	3 SubmittersRCV003335936
NM_000169.3(GLA):c.816C>A (p.Asn272Lys)	SNV Germline	ChrX:101398553	Pathogenic	GLA-related disorder Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413923380	rs_2520864961	2 SubmittersRCV003408715 RCV005645474
NM_000169.3(GLA):c.1095T>G (p.Tyr365Ter)	SNV Germline	ChrX:101398004	Pathogenic	GLA-related disorder Fabry disease Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA413920675	rs_104894849	3 SubmittersRCV003410482 RCV005645475 RCV004992603
NM_000169.3(GLA):c.666C>G (p.Tyr222Ter)	SNV Unknown	ChrX:101398920	Pathogenic	Fabry disease	Criteria Provided Single Submitter	CA413925011	rs_104894851	1 SubmittersRCV003484584
NM_000169.3(GLA):c.116C>G (p.Thr39Arg)	SNV Germline	ChrX:101407788	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter	CA413937260	rs_201819574	1 SubmittersRCV003484242
NM_000169.3(GLA):c.1202C>G (p.Ser401Ter)	SNV Germline	ChrX:101397897	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413919504	rs_2520849314	2 SubmittersRCV003489369 RCV005645494
NM_000169.3(GLA):c.581C>T (p.Thr194Ile)	SNV Germline	ChrX:101400724	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413927659	rs_2520887188	2 SubmittersRCV003489370 RCV005645495
NM_000169.3(GLA):c.602C>T (p.Ser201Phe)	SNV Germline	ChrX:101400703	Pathogenic/Likely pathogenic	Condition: not provided Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413927379	rs_2520886754	2 SubmittersRCV003489371 RCV005645496
NM_000169.3(GLA):c.1166C>G (p.Pro389Arg)	SNV Germline	ChrX:101397933	Conflicting classifications of pathogenicity	Fabry disease	Criteria Provided Conflicting Classifications	CA413919968	rs_2520850221	2 SubmittersRCV003509068
NM_000169.3(GLA):c.908T>A (p.Ile303Asn)	SNV Germline	ChrX:101398461	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413922201	rs_2520861972	2 SubmittersRCV003509070
NM_000169.3(GLA):c.886A>T (p.Met296Leu)	SNV Germline	ChrX:101398483	Pathogenic/Likely pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA413922464	rs_104894830	3 SubmittersRCV003509071 RCV004701743
NM_000169.3(GLA):c.809T>C (p.Ile270Thr)	SNV Germline	ChrX:101398560	Pathogenic/Likely pathogenic	Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA413923442	rs_2520865089	2 SubmittersRCV003509073
NM_000169.3(GLA):c.514T>C (p.Cys172Arg)	SNV Germline	ChrX:101401665	Pathogenic/Likely pathogenic	Fabry disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA413928829	rs_2520895194	3 SubmittersRCV003509075 RCV005643490
NM_000169.3(GLA):c.176A>T (p.Glu59Val)	SNV Germline	ChrX:101407728	Likely pathogenic	Fabry disease	Criteria Provided Single Submitter	CA413936733	rs_2520943061	1 SubmittersRCV003622772

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

SNV
Germline

ChrX:101398033

Pathogenic/Likely pathogenic

Fabry disease
Condition: not provided
GLA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA021340

rs_104894827

8 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
Condition: not provided
Primary familial hypertrophic cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA022189

rs_104894828

13 SubmittersRCV000011461 RCV000011462 RCV000244581 RCV000723405 RCV000845380

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

SNV
Germline

ChrX:101407773

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA021519

rs_104894829

2 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

9 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

6 SubmittersRCV000011466 RCV000729403

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

SNV
Germline

ChrX:101398369

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA413921267

rs_1603038103

2 SubmittersRCV000011467

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

SNV
Germline

ChrX:101398534

Pathogenic/Likely pathogenic

Fabry disease, cardiac variant
Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA022117

rs_28935485

4 SubmittersRCV000011468 RCV001781218 RCV005644479

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

SNV
Germline

ChrX:101398387

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA022255

rs_104894832

3 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
GLA-related disorder

Criteria Provided
Conflicting Classifications

CA021590

rs_104894833

15 SubmittersRCV000150750 RCV000728539 RCV000822343 RCV003162613 RCV004752756

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

7 SubmittersRCV000011471 RCV000723530

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

SNV
Germline

ChrX:101407738

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA021558

rs_104894836

2 SubmittersRCV000011472

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

SNV
Germline

ChrX:101401713

Pathogenic/Likely pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA021734

rs_28935195

3 SubmittersRCV000011474 RCV005632172

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

4 SubmittersRCV000011475 RCV003137512

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

SNV
Germline

ChrX:101400699

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA021821

rs_104894838

3 SubmittersRCV000011476

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

SNV
Germline

ChrX:101398942

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA021924

rs_28935197

26 SubmittersRCV000011477 RCV000157896 RCV000618059 RCV000844705 RCV001798000

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

SNV
Germline

ChrX:101398563

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA022087

rs_28935488

2 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

13 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

11 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

6 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

6 SubmittersRCV000011481 RCV000733417

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

SNV
Germline

ChrX:101398508

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA022128

rs_104894839

2 SubmittersRCV000011483

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

SNV
Germline

ChrX:101398479

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA022153

rs_28935489

4 SubmittersRCV000011484

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

SNV
Germline

ChrX:101398390

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA022249

rs_28935491

2 SubmittersRCV000011487

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

SNV
Germline

ChrX:101398386

Pathogenic/Likely pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA022267

rs_28935492

5 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

7 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

10 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

11 SubmittersRCV000011491 RCV000723730 RCV003398484

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

SNV
Germline

ChrX:101398018

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA021360

rs_28935494

2 SubmittersRCV000011492

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

SNV
Germline

ChrX:101397907

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA021448

rs_104894844

3 SubmittersRCV000011493

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

SNV
Germline

ChrX:101403809

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA021675

rs_387906483

2 SubmittersRCV000011485

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

SNV
Germline

ChrX:101398481

Likely pathogenic

Fabry disease, cardiac variant
Fabry disease

Criteria Provided
Single Submitter

CA022146

rs_104894846

2 SubmittersRCV000011510 RCV005644480

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

SNV
Germline

ChrX:101407846

Pathogenic

Fabry disease, cardiac variant
Fabry disease

Criteria Provided
Single Submitter

CA021802

rs_104894847

2 SubmittersRCV000011511 RCV005644481

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

SNV
Germline

ChrX:101407710

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA021577

rs_104894848

2 SubmittersRCV000011513

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

SNV
Germline

ChrX:101398004

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA021385

rs_104894849

3 SubmittersRCV000011514 RCV001781220

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

SNV
Germline

ChrX:101399747

Pathogenic

Fabry disease, cardiac variant
Fabry disease
Condition: not provided
Cardiomyopathy
Fabry disease
Hypertrophic cardiomyopathy
Cardiovascular phenotype
GLA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA021883

rs_199473684

20 SubmittersRCV000011515 RCV000154318 RCV000728949 RCV000769537 RCV000844706 RCV002362578 RCV004752698

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

SNV
Germline

ChrX:101401752

Pathogenic/Likely pathogenic

Fabry disease
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA021721

rs_104894845

9 SubmittersRCV000011516 RCV000157890 RCV006342073

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

5 SubmittersRCV000011517 RCV000730382

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

SNV
Germline

ChrX:101397871

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA021462

rs_104894852

3 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

4 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

13 SubmittersRCV000482440 RCV000780291 RCV002321570

NM_000169.3(GLA):c.1000-14T>C

SNV
Germline

ChrX:101398113

Conflicting classifications of pathogenicity

not specified
Fabry disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA021279

rs_397515868

6 SubmittersRCV000035298 RCV002496526 RCV004703191

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

10 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
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
GLA-related disorder

Criteria Provided
Conflicting Classifications

CA021658

rs_148158093

27 SubmittersRCV000035303 RCV000078277 RCV000619869 RCV000723556 RCV000769541 RCV004752731

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

9 SubmittersRCV000153322 RCV000723986 RCV000769540 RCV002354187

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

SNV
Germline

ChrX:101400660

Conflicting classifications of pathogenicity

not specified
Fabry disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA021876

rs_200096940

8 SubmittersRCV000035306 RCV001165639 RCV006250244

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

11 SubmittersRCV000035309 RCV000735194 RCV001089401 RCV002362616 RCV003149615 RCV003924901

NM_000169.3(GLA):c.724A>T (p.Ile242Phe)

SNV
Germline

ChrX:101398862

Conflicting classifications of pathogenicity

not specified
Fabry disease

Criteria Provided
Conflicting Classifications

CA022013

rs_397515873

2 SubmittersRCV000035310 RCV005644492

NM_000169.3(GLA):c.729G>C (p.Leu243Phe)

SNV
Germline

ChrX:101398857

Conflicting classifications of pathogenicity

not specified
Fabry disease

Criteria Provided
Conflicting Classifications

CA022020

rs_397515874

2 SubmittersRCV000035311 RCV005644493

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

18 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

3 SubmittersRCV000078264 RCV003997194

NM_000169.3(GLA):c.1247A>C (p.Gln416Pro)

SNV
Germline

ChrX:101397852

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

CA021486

rs_398123200

4 SubmittersRCV000078265 RCV001854373

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

SNV
Germline

ChrX:101407779

Pathogenic/Likely pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA021500

rs_398123201

6 SubmittersRCV000078266 RCV000723538

NM_000169.3(GLA):c.132G>C (p.Trp44Cys)

SNV
Germline

ChrX:101407772

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

CA021525

rs_398123202

2 SubmittersRCV000078267 RCV005644506

NM_000169.3(GLA):c.137A>T (p.His46Leu)

SNV
Germline

ChrX:101407767

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA021538

rs_398123203

2 SubmittersRCV000078268 RCV005644507

NM_000169.3(GLA):c.142G>C (p.Glu48Gln)

SNV
Germline

ChrX:101407762

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

CA021544

rs_398123204

2 SubmittersRCV000078269 RCV005644508

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

3 SubmittersRCV000078270 RCV003509487

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

SNV
Germline

ChrX:101403986

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA021583

rs_398123206

2 SubmittersRCV000078271 RCV005644509

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

3 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

4 SubmittersRCV000157886 RCV001807017

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

SNV
Germline

ChrX:101403899

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA021617

rs_113173389

4 SubmittersRCV000078274 RCV001854374

NM_000169.3(GLA):c.335G>T (p.Arg112Leu)

SNV
Germline

ChrX:101403845

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA021652

rs_372966991

4 SubmittersRCV000078276 RCV005089536 RCV005403757

NM_000169.3(GLA):c.369+5G>T

SNV
Germline

ChrX:101403806

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Fabry disease

Criteria Provided
Conflicting Classifications

CA021680

rs_398123209

7 SubmittersRCV000078278 RCV001553583 RCV001807018

NM_000169.3(GLA):c.509A>G (p.Asp170Gly)

SNV
Germline

ChrX:101401670

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA021780

rs_398123210

2 SubmittersRCV000078281 RCV005644510

NM_000169.3(GLA):c.548-2A>G

SNV
Germline

ChrX:101400759

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA021790

rs_398123211

4 SubmittersRCV000078282 RCV005644511

NM_000169.3(GLA):c.548G>T (p.Gly183Val)

SNV
Germline

ChrX:101400757

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA021796

rs_398123212

3 SubmittersRCV000078283 RCV005644512

NM_000169.3(GLA):c.595G>A (p.Val199Met)

SNV
Germline

ChrX:101400710

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

CA021815

rs_398123213

3 SubmittersRCV000078284 RCV005644513

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

SNV
Germline

ChrX:101400662

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease
GLA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA021870

rs_398123215

5 SubmittersRCV000078286 RCV002498377 RCV003398668

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

SNV
Germline

ChrX:101398947

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA021898

rs_398123216

4 SubmittersRCV000078288 RCV005644514

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

4 SubmittersRCV000078290 RCV000822976

NM_000169.3(GLA):c.677G>A (p.Trp226Ter)

SNV
Germline

ChrX:101398909

Pathogenic

Condition: not provided
Cardiovascular phenotype
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA021958

rs_398123219

5 SubmittersRCV000078292 RCV002362724 RCV005644515

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

5 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

6 SubmittersRCV000078297 RCV000780290

NM_000169.3(GLA):c.823C>T (p.Leu275Phe)

SNV
Germline

ChrX:101398546

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA022106

rs_398123222

2 SubmittersRCV000078298 RCV005644516

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

4 SubmittersRCV000078299 RCV003509488

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

SNV
Germline

ChrX:101398470

Pathogenic/Likely pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA022159

rs_398123223

6 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

10 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

3 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

4 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

7 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

4 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

20 SubmittersRCV000150749 RCV000203179 RCV000621570 RCV000782202 RCV003149916

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

SNV
Germline

ChrX:101398928

Pathogenic

Fabry disease
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA021936

rs_727503949

11 SubmittersRCV000153320 RCV000723942 RCV005572276

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
GLA-related disorder

Criteria Provided
Conflicting Classifications

CA021809

rs_727503950

13 SubmittersRCV000153323 RCV000209729 RCV000723576 RCV002354357 RCV004752760

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
not specified

Criteria Provided
Conflicting Classifications

CA021839

rs_372416832

12 SubmittersRCV000418558 RCV000798173 RCV002362805 RCV003415998 RCV004586574

NC_000023.11:g.101398856C>T

SNV
Germline

ChrX:101398856

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

CA022025

rs_727503948

3 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

4 SubmittersRCV000153324 RCV000780292

NM_000169.3(GLA):c.1023A>C

SNV
Germline

ChrX:101398076

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA273335

rs_797044497

2 SubmittersRCV000153316 RCV005644525

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

SNV
Germline

ChrX:101398569

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA273339

rs_797044499

3 SubmittersRCV000153318 RCV005644526

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

SNV
Germline

ChrX:101397982

Pathogenic/Likely pathogenic

Fabry disease
Condition: not provided
Hypertrophic cardiomyopathy
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA021403

rs_727504348

7 SubmittersRCV000154469 RCV000727357 RCV000844704

NM_000169.3(GLA):c.485G>T (p.Trp162Leu)

SNV
Germline

ChrX:101401694

Conflicting classifications of pathogenicity

not specified
Fabry disease

Criteria Provided
Conflicting Classifications

CA021760

rs_727504350

2 SubmittersRCV000154471 RCV005644527

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

SNV
Germline

ChrX:101398468

Pathogenic/Likely pathogenic

not specified
Fabry disease
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA022178

rs_398123224

9 SubmittersRCV000156338 RCV000823627 RCV003137679 RCV003298170

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

Pathogenic/Likely pathogenic

not specified
Fabry disease
Migalastat response
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA022050

rs_727505292

7 SubmittersRCV000156824 RCV000209022 RCV000209285 RCV001781498

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

SNV
Germline

ChrX:101397870

Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA021469

rs_730880442

2 SubmittersRCV001269207

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

SNV
Germline

ChrX:101398014

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA021367

rs_730880441

7 SubmittersRCV000157883 RCV001807105 RCV005404286

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

SNV
Germline

ChrX:101398080

Pathogenic

Fabry disease
GLA-related disorder
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA021293

rs_730880440

4 SubmittersRCV003066348 RCV004731317 RCV004992459

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

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA022220

rs_730880439

2 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

6 SubmittersRCV000157902 RCV001807106

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

SNV
Germline

ChrX:101398785

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA022081

rs_730880451

6 SubmittersRCV000157900 RCV000627818

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

SNV
Germline

ChrX:101398865

Conflicting classifications of pathogenicity

not specified
Fabry disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA022007

rs_730880438

3 SubmittersRCV000157877 RCV003509502 RCV004992037

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

SNV
Germline

ChrX:101398873

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA021996

rs_730880450

9 SubmittersRCV000157899 RCV000781420 RCV002362843 RCV004752764

NM_000169.3(GLA):c.621T>A (p.Tyr207Ter)

SNV
Germline

ChrX:101400684

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_730880449

1 SubmittersRCV005644758

NM_000169.3(GLA):c.548-1G>A

SNV
Germline

ChrX:101400758

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA021785

rs_730880447

2 SubmittersRCV000157893 RCV005645026

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

SNV
Germline

ChrX:101401811

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA021685

rs_730880444

2 SubmittersRCV000157887 RCV005644529

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

CA021605

rs_730880443

3 SubmittersRCV000733596 RCV002516375

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

SNV
Germline

ChrX:101407863

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA021708

rs_730880455

5 SubmittersRCV000734825 RCV001192396

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

SNV
Germline

ChrX:101407780

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA021494

rs_797044613

10 SubmittersRCV000235742 RCV000809963 RCV005572281

NM_000169.3(GLA):c.137A>G (p.His46Arg)

SNV
Germline

ChrX:101407767

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA021532

rs_398123203

3 SubmittersRCV000173078 RCV005645031

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

4 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

8 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

6 SubmittersRCV000176999 RCV000723475

NM_000169.3(GLA):c.620A>G (p.Tyr207Cys)

SNV
Germline

ChrX:101400685

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA021845

rs_797044727

3 SubmittersRCV000178050 RCV005645032

NM_000169.3(GLA):c.704C>G (p.Ser235Cys)

SNV
Germline

ChrX:101398882

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA021984

rs_797044746

6 SubmittersRCV000178723 RCV002372097 RCV005406898

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

5 SubmittersRCV000178724 RCV001036876

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

SNV
Germline

ChrX:101398782

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA022074

rs_797044748

6 SubmittersRCV000178725 RCV001194307

NM_000169.3(GLA):c.916C>T (p.Gln306Ter)

SNV
Germline

ChrX:101398453

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA022196

rs_797044768

3 SubmittersRCV000179266 RCV005645033

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

6 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

4 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

5 SubmittersRCV000179728 RCV000792067

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

SNV
Germline

ChrX:101398012

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA021376

rs_797044776

14 SubmittersRCV000179729 RCV001249019 RCV005841526

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

SNV
Germline

ChrX:101398032

Likely pathogenic

Fabry disease
Migalastat response

Criteria Provided
Single Submitter

CA353301

rs_869312163

2 SubmittersRCV000209490 RCV000209758

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

SNV
Germline

ChrX:101398389

Pathogenic

Fabry disease
Migalastat response

Criteria Provided
Single Submitter

CA353272

rs_869312160

2 SubmittersRCV000209419 RCV000209806

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

SNV
Germline

ChrX:101398389

Likely pathogenic

Fabry disease
Migalastat response

Criteria Provided
Single Submitter

CA353090

rs_869312160

2 SubmittersRCV000209595 RCV000209037

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

SNV
Germline

ChrX:101398419

Pathogenic

Fabry disease
Migalastat response

Criteria Provided
Single Submitter

CA353236

rs_869312158

2 SubmittersRCV000209347 RCV000209621

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

SNV
Germline

ChrX:101398432

Conflicting classifications of pathogenicity

Migalastat response
Fabry disease
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA089142

rs_28935490

5 SubmittersRCV000209542 RCV000209154 RCV002225504 RCV002372191

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

SNV
Germline

ChrX:101398563

Pathogenic

Fabry disease
Migalastat response

Criteria Provided
Single Submitter

CA089038

rs_28935488

2 SubmittersRCV000209091 RCV000209357

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

SNV
Germline

ChrX:101398802

Pathogenic

Migalastat response
Fabry disease

Criteria Provided
Single Submitter

CA353257

rs_869312154

2 SubmittersRCV000209767 RCV000209382

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

SNV
Germline

ChrX:101398906

Pathogenic

Fabry disease
Migalastat response

Criteria Provided
Single Submitter

CA089014

rs_104894840

2 SubmittersRCV000208950 RCV000209334

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

SNV
Germline

ChrX:101398929

Likely pathogenic

Fabry disease
Migalastat response

Criteria Provided
Single Submitter

CA353134

rs_869312151

2 SubmittersRCV000209122 RCV000209507

NM_000169.3(GLA):c.641C>T (p.Pro214Leu)

SNV
Germline

ChrX:101398945

Likely pathogenic

Migalastat response
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA353062

rs_869312150

3 SubmittersRCV000208972 RCV000209531

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

SNV
Germline

ChrX:101400667

Likely pathogenic

Migalastat response
Fabry disease
Nonpapillary renal cell carcinoma

Criteria Provided
Single Submitter

CA353146

rs_869312149

3 SubmittersRCV000209142 RCV000209822 RCV005893612

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

SNV
Germline

ChrX:101400695

Pathogenic/Likely pathogenic

Fabry disease
Migalastat response
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA353155

rs_869312148

4 SubmittersRCV000209164 RCV000209436 RCV000727338

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

SNV
Germline

ChrX:101400744

Pathogenic

Fabry disease
Migalastat response

Criteria Provided
Single Submitter

CA353123

rs_869312146

2 SubmittersRCV000209103 RCV000209370

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

SNV
Germline

ChrX:101401639

Conflicting classifications of pathogenicity

Fabry disease
Migalastat response
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA353207

rs_869312145

4 SubmittersRCV000209274 RCV000209663 RCV002345718

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

SNV
Germline

ChrX:101403843

Likely pathogenic

Fabry disease
Migalastat response

Criteria Provided
Single Submitter

CA353045

rs_869312142

2 SubmittersRCV000209492 RCV000208936

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

SNV
Germline

ChrX:101403908

Likely pathogenic

Migalastat response
Fabry disease

Criteria Provided
Single Submitter

CA353184

rs_869312141

2 SubmittersRCV000209224 RCV000209786

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

SNV
Germline

ChrX:101403924

Pathogenic

Migalastat response
Fabry disease

Criteria Provided
Single Submitter

CA353138

rs_869312140

2 SubmittersRCV000209399 RCV000209126

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

SNV
Germline

ChrX:101403941

Conflicting classifications of pathogenicity

Fabry disease
Migalastat response
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA089420

rs_781838005

14 SubmittersRCV000209421 RCV000209815 RCV000732705 RCV002444816

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

SNV
Germline

ChrX:101407714

Likely pathogenic

Fabry disease
Migalastat response

Criteria Provided
Single Submitter

CA353104

rs_869312139

2 SubmittersRCV000209059 RCV000209447

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

SNV
Germline

ChrX:101407797

Pathogenic

Migalastat response
Fabry disease

Criteria Provided
Single Submitter

CA353241

rs_869312138

2 SubmittersRCV000209629 RCV000209353

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

SNV
Germline

ChrX:101407800

Likely pathogenic

Migalastat response
Fabry disease

Criteria Provided
Single Submitter

CA353058

rs_869312137

2 SubmittersRCV000208963 RCV000209648

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

SNV
Germline

ChrX:101407806

Likely pathogenic

Fabry disease
Migalastat response

Criteria Provided
Single Submitter

CA353071

rs_869312136

2 SubmittersRCV000208990 RCV000209255

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

SNV
Germline

ChrX:101407842

Pathogenic/Likely pathogenic

Fabry disease
Migalastat response

Criteria Provided
Multiple Submitters
No Conflicts

CA353214

rs_869312135

3 SubmittersRCV000209283 RCV000209546

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

4 SubmittersRCV000208891 RCV000209573

NM_000169.3(GLA):c.1250T>C (p.Leu417Pro)

SNV
Germline

ChrX:101397849

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312248

1 SubmittersRCV005645753

NM_000169.3(GLA):c.1246C>T (p.Gln416Ter)

SNV
Germline

ChrX:101397853

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352683

rs_869312247

2 SubmittersRCV000730154 RCV005645037

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

SNV
Germline

ChrX:101397855

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352271

rs_112341092

2 SubmittersRCV000587942

NM_000169.3(GLA):c.1196G>A (p.Trp399Ter)

SNV
Germline

ChrX:101397903

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_782449839

1 SubmittersRCV005644790

NM_000169.3(GLA):c.1191T>G (p.Tyr397Ter)

SNV
Germline

ChrX:101397908

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312236

1 SubmittersRCV005644788

NM_000169.3(GLA):c.1160T>C (p.Leu387Pro)

SNV
Germline

ChrX:101397939

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312234

1 SubmittersRCV005645731

NM_000169.3(GLA):c.1156C>T (p.Gln386Ter)

SNV
Germline

ChrX:101397943

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352605

rs_869312233

2 SubmittersRCV003228458 RCV005645461

NM_000169.3(GLA):c.1145G>A (p.Cys382Tyr)

SNV
Germline

ChrX:101397954

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_113993943

1 SubmittersRCV005645727

NM_000169.3(GLA):c.1132T>C (p.Cys378Arg)

SNV
Germline

ChrX:101397967

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_869312230

3 SubmittersRCV005645725

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

8 SubmittersRCV000236260 RCV001193638

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

SNV
Germline

ChrX:101398011

Pathogenic/Likely pathogenic

Fabry disease
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA029545

rs_111422676

18 SubmittersRCV000398396 RCV000724675 RCV005348076

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

SNV
Germline

ChrX:101398020

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352363

rs_782509013

2 SubmittersRCV002048087

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

SNV
Germline

ChrX:101398021

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352316

rs_782598150

5 SubmittersRCV000728585 RCV002515537

NM_000169.3(GLA):c.1078G>A (p.Gly360Ser)

SNV
Germline

ChrX:101398021

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_782598150

1 SubmittersRCV005645715

NM_000169.3(GLA):c.1073A>G (p.Glu358Gly)

SNV
Germline

ChrX:101398026

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312224

1 SubmittersRCV005645713

NM_000169.3(GLA):c.1069C>T (p.Gln357Ter)

SNV
Germline

ChrX:101398030

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352747

rs_869312223

2 SubmittersRCV000732876 RCV005645036

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

SNV
Germline

ChrX:101398032

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA352982

rs_869312163

11 SubmittersRCV000536023 RCV000734623 RCV002408900 RCV003488463 RCV004752797

NM_000169.3(GLA):c.1047G>A (p.Trp349Ter)

SNV
Germline

ChrX:101398052

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312219

1 SubmittersRCV005644780

NM_000169.3(GLA):c.1031T>C (p.Leu344Pro)

SNV
Germline

ChrX:101398068

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312216

1 SubmittersRCV005645702

NM_000169.3(GLA):c.1025G>C (p.Arg342Pro)

SNV
Germline

ChrX:101398074

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_28935493

1 SubmittersRCV005645701

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

SNV
Germline

ChrX:101398078

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352962

rs_869312214

2 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

CA352689

rs_869312204

3 SubmittersRCV001389324 RCV003137794

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

SNV
Germline

ChrX:101398109

Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352880

rs_869312203

2 SubmittersRCV000780297

NM_000169.3(GLA):c.983G>T (p.Gly328Val)

SNV
Germline

ChrX:101398386

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352350

rs_28935492

4 SubmittersRCV001782189 RCV005645302

NM_000169.3(GLA):c.971T>A (p.Leu324Ter)

SNV
Germline

ChrX:101398398

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312456

1 SubmittersRCV005123601

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

7 SubmittersRCV000367678 RCV000780289

NM_000169.3(GLA):c.959A>T (p.Asn320Ile)

SNV
Germline

ChrX:101398410

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312454

1 SubmittersRCV005645680

NM_000169.3(GLA):c.931C>T (p.Leu311Phe)

SNV
Germline

ChrX:101398438

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_869312449

2 SubmittersRCV005256462

NM_000169.3(GLA):c.907A>T (p.Ile303Phe)

SNV
Germline

ChrX:101398462

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312445

1 SubmittersRCV005645655

NM_000169.3(GLA):c.902G>T (p.Arg301Leu)

SNV
Germline

ChrX:101398467

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_104894828

1 SubmittersRCV005645653

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

SNV
Germline

ChrX:101398467

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352275

rs_104894828

3 SubmittersRCV001958657

NM_000169.3(GLA):c.890C>G (p.Ser297Cys)

SNV
Germline

ChrX:101398479

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

CA352262

rs_28935489

2 SubmittersRCV000277132 RCV005645041

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

SNV
Germline

ChrX:101398482

Likely pathogenic

Condition: not provided
Fabry disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA352849

rs_869312442

4 SubmittersRCV000734829 RCV001853290 RCV006342176

NM_000169.3(GLA):c.877C>T (p.Pro293Ser)

SNV
Germline

ChrX:101398492

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352956

rs_869312440

2 SubmittersRCV003143315 RCV005645454

NM_000169.3(GLA):c.875C>T (p.Ala292Val)

SNV
Germline

ChrX:101398494

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_782298737

1 SubmittersRCV005645641

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

SNV
Germline

ChrX:101398498

Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352629

rs_869312439

2 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

CA352994

rs_869312438

7 SubmittersRCV000733247 RCV001280629

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

SNV
Germline

ChrX:101398499

Conflicting classifications of pathogenicity

Fabry disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA352736

rs_869312438

6 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

11 SubmittersRCV000545099 RCV000786316 RCV002372207

NM_000169.3(GLA):c.863C>A (p.Ala288Asp)

SNV
Germline

ChrX:101398506

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

CA352808

rs_869312437

2 SubmittersRCV003509072

NM_000169.3(GLA):c.862G>C (p.Ala288Pro)

SNV
Germline

ChrX:101398507

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312436

1 SubmittersRCV005645638

NM_000169.3(GLA):c.838C>T (p.Gln280Ter)

SNV
Germline

ChrX:101398531

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312434

1 SubmittersRCV006495029

NM_000169.3(GLA):c.836A>G (p.Gln279Arg)

SNV
Germline

ChrX:101398533

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_869312433

2 SubmittersRCV005409458

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

SNV
Germline

ChrX:101398543

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA352690

rs_869312432

4 SubmittersRCV000703679 RCV000729606

NM_000169.3(GLA):c.824T>A (p.Leu275His)

SNV
Germline

ChrX:101398545

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312431

1 SubmittersRCV005645614

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

SNV
Germline

ChrX:101398551

Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352817

rs_869312430

2 SubmittersRCV001226443

NM_000169.3(GLA):c.812G>C (p.Gly271Ala)

SNV
Germline

ChrX:101398557

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312429

1 SubmittersRCV005645604

NM_000169.3(GLA):c.805G>C (p.Val269Leu)

SNV
Germline

ChrX:101398564

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312427

1 SubmittersRCV005645602

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

4 SubmittersRCV000589129 RCV003137796

NM_000169.3(GLA):c.801+4A>G

SNV
Germline

ChrX:101398781

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_868993843

1 SubmittersRCV005644718

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

SNV
Germline

ChrX:101398784

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_868923658

1 SubmittersRCV005644810

NM_000169.3(GLA):c.800T>C (p.Met267Thr)

SNV
Germline

ChrX:101398786

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

rs_869312408

2 SubmittersRCV005645599

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

SNV
Germline

ChrX:101398790

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352670

rs_869312407

2 SubmittersRCV003153189

NM_000169.3(GLA):c.793C>T (p.Pro265Ser)

SNV
Germline

ChrX:101398793

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352484

rs_869312406

2 SubmittersRCV003143326 RCV005645455

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

4 SubmittersRCV000589425 RCV003137795

NM_000169.3(GLA):c.788A>G (p.Asn263Ser)

SNV
Germline

ChrX:101398798

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352472

rs_869312404

2 SubmittersRCV001783365 RCV005645297

NM_000169.3(GLA):c.786G>C (p.Trp262Cys)

SNV
Germline

ChrX:101398800

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312403

1 SubmittersRCV005645591

NM_000169.3(GLA):c.785G>T (p.Trp262Leu)

SNV
Germline

ChrX:101398801

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312402

1 SubmittersRCV005645592

NM_000169.3(GLA):c.785G>A (p.Trp262Ter)

SNV
Germline

ChrX:101398801

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352522

rs_869312402

2 SubmittersRCV000597147 RCV005645040

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

SNV
Germline

ChrX:101398804

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352632

rs_869312401

4 SubmittersRCV000780301

NM_000169.3(GLA):c.776C>T (p.Pro259Leu)

SNV
Germline

ChrX:101398810

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312399

1 SubmittersRCV005645586

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

SNV
Germline

ChrX:101398810

Pathogenic/Likely pathogenic

Fabry disease
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA352614

rs_869312399

7 SubmittersRCV000593162 RCV000726800 RCV005348079

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

SNV
Germline

ChrX:101398837

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352896

rs_869312396

2 SubmittersRCV000556577

NM_000169.3(GLA):c.747C>A (p.Asn249Lys)

SNV
Germline

ChrX:101398839

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

rs_782506652

2 SubmittersRCV004823556

NM_000169.3(GLA):c.739T>C (p.Ser247Pro)

SNV
Germline

ChrX:101398847

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312393

1 SubmittersRCV005645571

NM_000169.3(GLA):c.716T>C (p.Ile239Thr)

SNV
Germline

ChrX:101398870

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312388

1 SubmittersRCV005645560

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

SNV
Germline

ChrX:101398878

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312386

1 SubmittersRCV005645555

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

SNV
Germline

ChrX:101398915

Pathogenic/Likely pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA352926

rs_869312383

3 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

CA352720

rs_869312382

6 SubmittersRCV001194309 RCV001781620 RCV002363038

NM_000169.3(GLA):c.667T>G (p.Cys223Gly)

SNV
Germline

ChrX:101398919

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312381

1 SubmittersRCV005645538

NM_000169.3(GLA):c.664T>G (p.Tyr222Asp)

SNV
Germline

ChrX:101398922

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312380

1 SubmittersRCV005645536

NM_000169.3(GLA):c.648T>A (p.Tyr216Ter)

SNV
Germline

ChrX:101398938

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312377

1 SubmittersRCV005644761

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

SNV
Germline

ChrX:101398949

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_782544621

1 SubmittersRCV005644715

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

SNV
Germline

ChrX:101399805

Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352961

rs_869312374

2 SubmittersRCV003509074

NM_000169.3(GLA):c.639+1G>A

SNV
Germline

ChrX:101400665

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312353

1 SubmittersRCV005644804

NM_000169.3(GLA):c.638A>T (p.Lys213Met)

SNV
Germline

ChrX:101400667

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312149

1 SubmittersRCV005645524

NM_000169.3(GLA):c.627G>A (p.Trp209Ter)

SNV
Germline

ChrX:101400678

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_869312350

2 SubmittersRCV005644759

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

CA352973

rs_869312346

3 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

4 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

5 SubmittersRCV000359005 RCV000726225

NM_000169.3(GLA):c.572T>C (p.Leu191Pro)

SNV
Germline

ChrX:101400733

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_111972736

1 SubmittersRCV005645011

NM_000169.3(GLA):c.560T>G (p.Met187Arg)

SNV
Germline

ChrX:101400745

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312342

1 SubmittersRCV005645009

NM_000169.3(GLA):c.560T>C (p.Met187Thr)

SNV
Germline

ChrX:101400745

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352650

rs_869312342

3 SubmittersRCV001090390 RCV004806209

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

CA352852

rs_869312340

4 SubmittersRCV001782186 RCV003152770

NM_000169.3(GLA):c.548G>C (p.Gly183Ala)

SNV
Germline

ChrX:101400757

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_398123212

1 SubmittersRCV005645004

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

SNV
Germline

ChrX:101401631

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352933

rs_869312320

2 SubmittersRCV001970068

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

SNV
Germline

ChrX:101401632

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA352572

rs_869312324

5 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

CA352479

rs_869312318

3 SubmittersRCV001783366 RCV002503264

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

SNV
Germline

ChrX:101401668

Likely pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA352923

rs_869312317

3 SubmittersRCV001374747 RCV001781619

NM_000169.3(GLA):c.508G>A (p.Asp170Asn)

SNV
Germline

ChrX:101401671

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312315

1 SubmittersRCV005644990

NM_000169.3(GLA):c.493G>C (p.Asp165His)

SNV
Germline

ChrX:101401686

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312312

1 SubmittersRCV005644980

NM_000169.3(GLA):c.486G>C (p.Trp162Cys)

SNV
Germline

ChrX:101401693

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312311

1 SubmittersRCV005644972

NM_000169.3(GLA):c.467C>T (p.Ala156Val)

SNV
Germline

ChrX:101401712

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312307

1 SubmittersRCV005644969

NM_000169.3(GLA):c.467C>A (p.Ala156Asp)

SNV
Germline

ChrX:101401712

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312307

1 SubmittersRCV005644968

NM_000169.3(GLA):c.463G>C (p.Asp155His)

SNV
Germline

ChrX:101401716

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_113419388

1 SubmittersRCV005644967

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

SNV
Germline

ChrX:101401726

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312305

1 SubmittersRCV005644747

NM_000169.3(GLA):c.392T>C (p.Leu131Pro)

SNV
Germline

ChrX:101401787

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312298

1 SubmittersRCV005644943

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

SNV
Germline

ChrX:101401810

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312287

1 SubmittersRCV005644796

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

SNV
Germline

ChrX:101401810

Pathogenic

Fabry disease

No Assertion Criteria Provided

CA352646

rs_869312287

1 SubmittersRCV000011465

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

SNV
Germline

ChrX:101403810

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_797044669

1 SubmittersRCV005644795

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

SNV
Germline

ChrX:101403843

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA352519

rs_869312142

11 SubmittersRCV000991314 RCV001636724 RCV001781617 RCV002453751

NM_000169.3(GLA):c.334C>A (p.Arg112Ser)

SNV
Germline

ChrX:101403846

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_104894834

2 SubmittersRCV005636438 RCV005645898

NM_000169.3(GLA):c.319C>T (p.Gln107Ter)

SNV
Germline

ChrX:101403861

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312252

1 SubmittersRCV005644743

NM_000169.3(GLA):c.311G>A (p.Gly104Asp)

SNV
Germline

ChrX:101403869

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

CA352569

rs_869312274

3 SubmittersRCV003985700

NM_000169.3(GLA):c.299G>A (p.Arg100Lys)

SNV
Germline

ChrX:101403881

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312273

1 SubmittersRCV005644924

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

SNV
Germline

ChrX:101403882

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352762

rs_869312272

2 SubmittersRCV001224303

NM_000169.3(GLA):c.281G>C (p.Cys94Ser)

SNV
Germline

ChrX:101403899

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_113173389

2 SubmittersRCV005199155

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

SNV
Germline

ChrX:101403903

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352482

rs_869312270

2 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

CA352928

rs_869312141

8 SubmittersRCV000732724 RCV001388247 RCV003417754

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

SNV
Germline

ChrX:101403933

Conflicting classifications of pathogenicity

Fabry disease
Condition: not provided
Cardiovascular phenotype
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA030449

rs_782722577

14 SubmittersRCV000471970 RCV000596614 RCV002426973 RCV005625447

NM_000169.3(GLA):c.233C>G (p.Ser78Ter)

SNV
Germline

ChrX:101403947

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312268

1 SubmittersRCV005644732

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

SNV
Germline

ChrX:101403983

Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352977

rs_869312264

4 SubmittersRCV003487869 RCV003779245

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

SNV
Germline

ChrX:101407709

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352899

rs_868966337

2 SubmittersRCV003509076

NM_000169.3(GLA):c.170A>G (p.Gln57Arg)

SNV
Germline

ChrX:101407734

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

CA352488

rs_869312260

2 SubmittersRCV001762947 RCV005645292

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

SNV
Germline

ChrX:101407735

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA352869

rs_869312259

4 SubmittersRCV001194305 RCV004596111

NM_000169.3(GLA):c.167G>T (p.Cys56Phe)

SNV
Germline

ChrX:101407737

Conflicting classifications of pathogenicity

not specified
Fabry disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA352731

rs_869312258

3 SubmittersRCV001193044 RCV005645039 RCV005348077

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

SNV
Germline

ChrX:101407737

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352477

rs_869312258

3 SubmittersRCV001379650

NM_000169.3(GLA):c.155G>C (p.Cys52Ser)

SNV
Germline

ChrX:101407749

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_869312256

2 SubmittersRCV005644869

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

SNV
Germline

ChrX:101407751

Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352950

rs_869312255

2 SubmittersRCV001193644

NM_000169.3(GLA):c.144G>C (p.Glu48Asp)

SNV
Germline

ChrX:101407760

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312254

1 SubmittersRCV005645761

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

CA352279

rs_797044613

5 SubmittersRCV000727558 RCV001063224 RCV003907777

NM_000169.3(GLA):c.122C>G (p.Thr41Ser)

SNV
Germline

ChrX:101407782

Conflicting classifications of pathogenicity

Fabry disease
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA029760

rs_782362194

6 SubmittersRCV001181362 RCV002363037 RCV003133176

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

CA352666

rs_869312226

3 SubmittersRCV001782190 RCV002034593

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

SNV
Germline

ChrX:101407812

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352530

rs_869312448

3 SubmittersRCV001293631

NM_000169.3(GLA):c.72G>A (p.Trp24Ter)

SNV
Germline

ChrX:101407832

Pathogenic

Cardiovascular phenotype
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_869312392

2 SubmittersRCV005346018 RCV005645882

NM_000169.3(GLA):c.71G>A (p.Trp24Ter)

SNV
Germline

ChrX:101407833

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312390

1 SubmittersRCV005644725

NM_000169.3(GLA):c.47T>G (p.Leu16Arg)

SNV
Germline

ChrX:101407857

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312310

1 SubmittersRCV005644892

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

SNV
Germline

ChrX:101407860

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352491

rs_869312304

3 SubmittersRCV003041471

NM_000169.3(GLA):c.43G>C (p.Ala15Pro)

SNV
Germline

ChrX:101407861

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312303

1 SubmittersRCV005644868

NM_000169.3(GLA):c.36C>A (p.Cys12Ter)

SNV
Germline

ChrX:101407868

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312283

1 SubmittersRCV005644724

NM_000169.3(GLA):c.13A>G (p.Asn5Asp)

SNV
Germline

ChrX:101407891

Conflicting classifications of pathogenicity

Fabry disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA030007

rs_782442966

4 SubmittersRCV001190922 RCV005841531

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

SNV
Germline

ChrX:101407900

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352509

rs_869312313

3 SubmittersRCV001293580

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

SNV
Germline

ChrX:101407903

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA352616

rs_869312265

4 SubmittersRCV001783375 RCV003509694 RCV003375362

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

SNV
Germline

ChrX:101407947

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

CA352290

rs_781906252

5 SubmittersRCV000827826 RCV001828045

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

SNV
Germline

ChrX:101397870

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA352414

rs_730880442

2 SubmittersRCV000208140

NM_000169.3(GLA):c.797A>C (p.Asp266Ala)

SNV
Germline

ChrX:101398789

Conflicting classifications of pathogenicity

not specified
Fabry disease

Criteria Provided
Conflicting Classifications

CA10577207

rs_28935487

3 SubmittersRCV000216195 RCV005237731

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

3 SubmittersRCV000226316 RCV000726826

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

SNV
Germline

ChrX:101398018

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA10584626

rs_28935494

3 SubmittersRCV000235836 RCV005090190

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

6 SubmittersRCV000235716 RCV000692369

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

SNV
Germline

ChrX:101400709

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA031465

rs_781871113

11 SubmittersRCV000724981 RCV001229433 RCV005572290

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

5 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

6 SubmittersRCV000286285 RCV000723404

NM_000169.3(GLA):c.268T>C (p.Cys90Arg)

SNV
Germline

ChrX:101403912

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

CA10603766

rs_886044767

2 SubmittersRCV000341522 RCV005645063

NM_000169.3(GLA):c.979C>T (p.Gln327Ter)

SNV
Germline

ChrX:101398390

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA10603787

rs_28935491

3 SubmittersRCV000399330 RCV005431586

NM_000169.3(GLA):c.1181T>C (p.Leu394Pro)

SNV
Germline

ChrX:101397918

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10603946

rs_886044779

12 SubmittersRCV000316758 RCV001183037 RCV002328756

NM_000169.3(GLA):c.806T>A (p.Val269Glu)

SNV
Germline

ChrX:101398563

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

CA10603987

rs_28935488

3 SubmittersRCV000378974 RCV005645064

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

6 SubmittersRCV000305413 RCV000781431

NM_000169.3(GLA):c.424T>C (p.Cys142Arg)

SNV
Germline

ChrX:101401755

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA10605183

rs_886044845

2 SubmittersRCV000301351 RCV005645066

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

6 SubmittersRCV000317291 RCV000984268

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

SNV
Germline

ChrX:101400691

Pathogenic/Likely pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10606043

rs_886044879

5 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

5 SubmittersRCV000291619 RCV000763197

NM_000169.3(GLA):c.127G>A (p.Gly43Ser)

SNV
Germline

ChrX:101407777

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA10606899

rs_886044906

3 SubmittersRCV000298627 RCV005645068

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

SNV
Unknown

ChrX:101403936

Likely pathogenic

Fabry disease

No Assertion Criteria Provided

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
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA029647

rs_144994244

7 SubmittersRCV000418968 RCV000468186 RCV001507538 RCV005572316

NM_000169.3(GLA):c.-13G>C

SNV
Germline

ChrX:101407916

Conflicting classifications of pathogenicity

not specified
Fabry disease

Criteria Provided
Conflicting Classifications

CA16608664

rs_782051708

3 SubmittersRCV000429166 RCV001187598

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

4 SubmittersRCV000424225 RCV001807250

NM_000169.3(GLA):c.1184G>C (p.Gly395Ala)

SNV
Germline

ChrX:101397915

Conflicting classifications of pathogenicity

Fabry disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA029729

rs_375661583

7 SubmittersRCV000462655 RCV003488603

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

4 SubmittersRCV000475829 RCV000723440

NM_000169.3(GLA):c.1241T>C (p.Leu414Ser)

SNV
Germline

ChrX:101397858

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA16621160

rs_869312246

2 SubmittersRCV000478338 RCV005645092

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

SNV
Germline

ChrX:101403854

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA16621162

rs_1064794205

6 SubmittersRCV000484456 RCV002248700

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

5 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

5 SubmittersRCV000525086 RCV000590425

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

SNV
Germline

ChrX:101401703

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

CA413929340

rs_1555985814

2 SubmittersRCV000554768

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

SNV
Germline

ChrX:101398569

Pathogenic/Likely pathogenic

Fabry disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA413923565

rs_797044499

3 SubmittersRCV000587754 RCV005348157

NM_000169.3(GLA):c.132G>T (p.Trp44Cys)

SNV
Germline

ChrX:101407772

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

CA413937124

rs_398123202

4 SubmittersRCV000588414 RCV001807298

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

SNV
Germline

ChrX:101397874

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413919170

rs_878853698

2 SubmittersRCV000586514

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

SNV
Germline

ChrX:101398078

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413921209

rs_869312214

2 SubmittersRCV000589205

NM_000169.3(GLA):c.958A>C (p.Asn320His)

SNV
Germline

ChrX:101398411

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

CA413921585

rs_1555984950

4 SubmittersRCV000590118 RCV005091534

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

SNV
Germline

ChrX:101407902

Pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413937947

rs_1555987232

6 SubmittersRCV000586866 RCV000731977

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

SNV
Germline

ChrX:101401740

Pathogenic/Likely pathogenic

Fabry disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA413929962

rs_1555985830

4 SubmittersRCV000589918 RCV005338259

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

4 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

3 SubmittersRCV000593774 RCV003509574

NM_000169.3(GLA):c.100A>G (p.Asn34Asp)

SNV
Germline

ChrX:101407804

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

CA413937393

rs_1555987150

2 SubmittersRCV000593782 RCV005645108

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

4 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

3 SubmittersRCV000591773 RCV003509575

NM_000169.3(GLA):c.670A>G (p.Asn224Asp)

SNV
Germline

ChrX:101398916

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413924981

rs_1555985175

2 SubmittersRCV000594508 RCV005645110

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

6 SubmittersRCV000609780 RCV001325331 RCV003302951

NM_000169.3(GLA):c.667T>C (p.Cys223Arg)

SNV
Germline

ChrX:101398919

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Hypertrophic cardiomyopathy
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413925007

rs_869312381

3 SubmittersRCV000618471 RCV001270059 RCV005645116

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
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA413923213

rs_1555985010

5 SubmittersRCV000627821 RCV004760656 RCV004992409

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

CA413921215

rs_1555984869

5 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

CA413921070

rs_1555984843

2 SubmittersRCV000659174 RCV004004196

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

SNV
Germline

ChrX:101400757

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413928004

rs_398123212

4 SubmittersRCV000681892 RCV002477519

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

SNV
Germline

ChrX:101398856

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

CA413924412

rs_727503948

3 SubmittersRCV000681910 RCV002499207

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

SNV
Germline

ChrX:101398838

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA413924223

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

CA333093898

rs_782722844

9 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

CA413924785

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

CA413937322

rs_869312226

4 SubmittersRCV000685810 RCV000734407

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

SNV
Germline

ChrX:101400685

Pathogenic/Likely pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413927225

rs_797044727

4 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

CA413937429

rs_1569306168

5 SubmittersRCV000727580 RCV003509593

NM_000169.3(GLA):c.126G>C (p.Met42Ile)

SNV
Germline

ChrX:101407778

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413937183

rs_1569306108

3 SubmittersRCV000729336 RCV005645164

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

SNV
Germline

ChrX:101403890

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413933573

rs_1569304867

5 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

CA413933914

rs_1569304898

5 SubmittersRCV000730015 RCV001855746 RCV002424744

NM_000169.3(GLA):c.254G>T (p.Gly85Val)

SNV
Germline

ChrX:101403926

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

CA413933908

rs_1569304898

3 SubmittersRCV000730039 RCV005645165

NM_000169.3(GLA):c.893A>G (p.Asn298Ser)

SNV
Germline

ChrX:101398476

Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413922331

rs_1569302985

2 SubmittersRCV000730379 RCV005645167

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

CA413936631

rs_1569306022

3 SubmittersRCV000730949 RCV002535181

NM_000169.3(GLA):c.896A>G (p.Asp299Gly)

SNV
Germline

ChrX:101398473

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413922296

rs_1569302982

2 SubmittersRCV000732603 RCV005645169

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

CA413933910

rs_1569304898

2 SubmittersRCV000732723 RCV001855691

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

SNV
Germline

ChrX:101398947

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413925176

rs_398123216

7 SubmittersRCV000733701 RCV000781421

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

CA413930599

rs_1183869568

4 SubmittersRCV000760339 RCV003479214

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

SNV
Germline

ChrX:101398495

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413922589

rs_111812846

2 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

CA413924035

rs_1569303218

4 SubmittersRCV000781428

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

SNV
Germline

ChrX:101400701

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413927367

rs_1569303843

4 SubmittersRCV001039833

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

CA413929898

rs_1569304190

4 SubmittersRCV000781430 RCV003372841

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

SNV
Germline

ChrX:101401775

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413930548

rs_1569304221

4 SubmittersRCV000780295

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

SNV
Germline

ChrX:101403873

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413933417

rs_1569304851

2 SubmittersRCV000781429

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

SNV
Germline

ChrX:101403914

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413933787

rs_1569304886

3 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

CA413937240

rs_398123199

4 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

CA915951298

rs_1603040008

3 SubmittersRCV000788404 RCV003238213

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

SNV
Germline

ChrX:101398891

Pathogenic/Likely pathogenic

Fabry disease
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA413924759

rs_797044749

6 SubmittersRCV000817070 RCV001784443 RCV002372311

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

SNV
Germline

ChrX:101401659

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA413928761

rs_181562693

1 SubmittersRCV000794754

NM_000169.3(GLA):c.1042G>C (p.Ala348Pro)

SNV
Germline

ChrX:101398057

Pathogenic/Likely pathogenic

Primary familial hypertrophic cardiomyopathy
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413921117

rs_1603037717

2 SubmittersRCV000845520 RCV005645189

NM_000169.3(GLA):c.869T>C (p.Met290Thr)

SNV
Germline

ChrX:101398500

Likely pathogenic

Primary familial hypertrophic cardiomyopathy
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413922640

rs_1603038411

2 SubmittersRCV000845515 RCV005645188

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

SNV
Unknown

ChrX:101401703

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA413929344

rs_1555985814

1 SubmittersRCV000990920

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

SNV
Germline

ChrX:101398419

Pathogenic

Fabry disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA16020707

rs_869312158

3 SubmittersRCV001047256 RCV004994203

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

SNV
Germline

ChrX:101398480

Pathogenic/Likely pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413922390

rs_1928167952

3 SubmittersRCV001041450 RCV004590042

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

SNV
Germline

ChrX:101403819

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413932808

rs_782197638

2 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

CA413934691

rs_1928411447

3 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

CA413937839

rs_1555987214

5 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

CA390747959

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

CA413933532

rs_868937910

3 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

CA413937689

rs_1928592578

3 SubmittersRCV001174874

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

SNV
Germline

ChrX:101398869

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

CA413924561

rs_1928192530

5 SubmittersRCV001187084

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

SNV
Germline

ChrX:101400720

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

CA517520678

rs_1928285510

3 SubmittersRCV001192310

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

SNV
Germline

ChrX:101407704

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

CA037779

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

CA413920866

rs_797044774

1 SubmittersRCV001193043

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

SNV
Germline

ChrX:101398054

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413921097

rs_1928137126

2 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

CA413921519

rs_1928161905

3 SubmittersRCV001193046 RCV002375120

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

SNV
Germline

ChrX:101398475

Pathogenic

Fabry disease
Thyroid cancer, nonmedullary, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA413922319

rs_869312444

3 SubmittersRCV001193068 RCV005908931

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

SNV
Germline

ChrX:101398518

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413922855

rs_1928171557

3 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

CA413924194

rs_1928189534

3 SubmittersRCV001194304 RCV001780101

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

SNV
Germline

ChrX:101398880

Pathogenic/Likely pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413924696

rs_1555985148

3 SubmittersRCV001192394 RCV004702683

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

SNV
Germline

ChrX:101398898

Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413924824

rs_1928195468

3 SubmittersRCV001192395

NM_000169.3(GLA):c.409G>T (p.Val137Phe)

SNV
Germline

ChrX:101401770

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

CA413930470

rs_1928326653

3 SubmittersRCV001194308 RCV003130175 RCV005645221

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

SNV
Germline

ChrX:101401773

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413930525

rs_1928326804

2 SubmittersRCV001193641

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

SNV
Germline

ChrX:101407750

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413936907

rs_1057521047

3 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

CA413936918

rs_869312255

4 SubmittersRCV001194306

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

SNV
Germline

ChrX:101407776

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413937161

rs_1928583820

2 SubmittersRCV001193639

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

SNV
Germline

ChrX:101398784

Pathogenic/Likely pathogenic

Fabry disease
Thyroid cancer, nonmedullary, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA413923758

rs_868923658

3 SubmittersRCV001193069 RCV005908932

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

SNV
Germline

ChrX:101403899

Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413933700

rs_113173389

3 SubmittersRCV001201250

NM_000169.3(GLA):c.673C>G (p.His225Asp)

SNV
Germline

ChrX:101398913

Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413924951

rs_1928196686

2 SubmittersRCV001216323

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

CA413930427

rs_1928326107

5 SubmittersRCV001217560 RCV001780137

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

SNV
Germline

ChrX:101401748

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413930045

rs_782085638

2 SubmittersRCV001206271

NM_000169.3(GLA):c.639+5G>A

SNV
Germline

ChrX:101400661

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA1139667723

rs_1928277140

2 SubmittersRCV001217567

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

SNV
Germline

ChrX:101398558

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413923429

rs_1928174707

2 SubmittersRCV001238670

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

SNV
Germline

ChrX:101398940

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413925122

rs_1928199003

3 SubmittersRCV004699224 RCV001236826

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

SNV
Germline

ChrX:101398804

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413923937

rs_869312401

3 SubmittersRCV001255564

NM_000169.3(GLA):c.1244T>G (p.Leu415Arg)

SNV
Germline

ChrX:101397855

Conflicting classifications of pathogenicity

not specified
Fabry disease

Criteria Provided
Conflicting Classifications

CA413919010

rs_112341092

2 SubmittersRCV001260336 RCV005645240

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

SNV
Germline

ChrX:101403830

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA333095131

rs_12392549

2 SubmittersRCV001260301

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

SNV
Germline

ChrX:101401679

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413929028

rs_1928319806

3 SubmittersRCV001269208

NM_000169.3(GLA):c.676T>A (p.Trp226Arg)

SNV
Germline

ChrX:101398910

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413924928

rs_1928196393

2 SubmittersRCV001269588 RCV005645244

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

CA413921088

rs_869312218

5 SubmittersRCV001280595 RCV002282509

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

SNV
Germline

ChrX:101407768

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413937089

rs_1928582757

2 SubmittersRCV001280630

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

SNV
Germline

ChrX:101398038

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413920965

rs_1928135337

4 SubmittersRCV001280904

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

SNV
Germline

ChrX:101398479

Pathogenic/Likely pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413922381

rs_28935489

3 SubmittersRCV002543011 RCV004812398

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

SNV
Germline

ChrX:101403905

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413933748

rs_1928406948

2 SubmittersRCV001290611

NM_000169.3(GLA):c.187T>C (p.Cys63Arg)

SNV
Germline

ChrX:101407717

Conflicting classifications of pathogenicity

not specified
Fabry disease

Criteria Provided
Conflicting Classifications

CA413936636

rs_1928578294

2 SubmittersRCV001290654 RCV005645249

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

SNV
Germline

ChrX:101398485

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413922484

rs_1928168711

2 SubmittersRCV001293628

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

SNV
Germline

ChrX:101400755

Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413927985

rs_1928287649

2 SubmittersRCV001293627

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

SNV
Germline

ChrX:101401767

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413930442

rs_1928326524

2 SubmittersRCV001293629

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

SNV
Germline

ChrX:101401811

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413931058

rs_730880444

2 SubmittersRCV001293592

NM_000169.3(GLA):c.56T>A (p.Leu19Gln)

SNV
Germline

ChrX:101407848

Conflicting classifications of pathogenicity

not specified
Fabry disease

Criteria Provided
Conflicting Classifications

CA413937691

rs_1928592578

2 SubmittersRCV001293632 RCV005645250

NM_000169.3(GLA):c.1115T>C (p.Leu372Pro)

SNV
Germline

ChrX:101397984

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

CA413920582

rs_1928127729

2 SubmittersRCV001298998

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

SNV
Germline

ChrX:101398023

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

CA413920826

rs_1928132914

2 SubmittersRCV001321822

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

SNV
Germline

ChrX:101403938

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413934061

rs_398123208

2 SubmittersRCV001328356

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

SNV
Germline

ChrX:101401725

Likely pathogenic

Fabry disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA413929706

rs_1928323615

2 SubmittersRCV001341700 RCV006347710

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

SNV
Germline

ChrX:101398786

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413923775

rs_869312408

2 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

CA413923309

rs_2147472458

3 SubmittersRCV001368747 RCV003130507

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

SNV
Germline

ChrX:101401629

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA2499226276

rs_1351477965

2 SubmittersRCV001368906

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

SNV
Germline

ChrX:101398445

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413921997

rs_2147472050

2 SubmittersRCV001374746

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

SNV
Germline

ChrX:101398534

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413923052

rs_28935485

2 SubmittersRCV001374744

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

SNV
Germline

ChrX:101401726

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413929715

rs_869312305

3 SubmittersRCV001374743

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

SNV
Germline

ChrX:101403900

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413933715

rs_2147480697

2 SubmittersRCV001374745

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

SNV
Germline

ChrX:101407901

Pathogenic/Likely pathogenic

Fabry disease
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413937941

rs_2147487910

5 SubmittersRCV001375575 RCV004629626 RCV005630272

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

SNV
Germline

ChrX:101398808

Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413923991

rs_2147472959

2 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

CA413919083

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

CA413930844

rs_2147477845

4 SubmittersRCV001381526

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

SNV
Germline

ChrX:101403809

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA413932681

rs_387906483

1 SubmittersRCV001388694

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

SNV
Germline

ChrX:101398491

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413922571

rs_869312441

2 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

CA517736489

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

CA413932848

rs_2147480438

3 SubmittersRCV001420835

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

SNV
Germline

ChrX:101398108

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

CA2448297857

rs_1928143594

2 SubmittersRCV001445108

NM_000169.3(GLA):c.548-7C>T

SNV
Germline

ChrX:101400764

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

CA2499226274

rs_2147476255

2 SubmittersRCV001442779

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

CA517525308

rs_1555987080

4 SubmittersRCV001473670 RCV002414139

NM_000169.3(GLA):c.576T>C (p.Asn192=)

SNV
Germline

ChrX:101400729

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

CA517520731

rs_2147476101

2 SubmittersRCV001483363

NM_000169.3(GLA):c.897C>A (p.Asp299Glu)

SNV
Germline

ChrX:101398472

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

CA413922275

rs_2147472136

2 SubmittersRCV001507539 RCV005645279

NM_000169.3(GLA):c.1060A>G (p.Ile354Val)

SNV
Germline

ChrX:101398039

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

CA029460

rs_782200316

4 SubmittersRCV001526225

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

SNV
Germline

ChrX:101403906

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413933757

rs_886041315

2 SubmittersRCV001553582

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

SNV
Germline

ChrX:101407734

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA413936796

rs_869312260

1 SubmittersRCV001563580

NM_000169.3(GLA):c.956T>C (p.Ile319Thr)

SNV
Germline

ChrX:101398413

Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Single Submitter

CA413921601

rs_2147471929

5 SubmittersRCV001699650 RCV005645289

NM_000169.3(GLA):c.1A>C (p.Met1Leu)

SNV
Germline

ChrX:101407903

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_869312265

1 SubmittersRCV005644566

NM_000169.3(GLA):c.997C>T (p.Gln333Ter)

SNV
Germline

ChrX:101398372

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413921275

rs_2147471760

2 SubmittersRCV001783369 RCV005645298

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

SNV
Germline

ChrX:101407902

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413937946

rs_1555987232

2 SubmittersRCV002246498

NM_000169.3(GLA):c.671A>C (p.Asn224Thr)

SNV
Germline

ChrX:101398915

Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413924971

rs_869312383

2 SubmittersRCV001782184 RCV005645301

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

CA413922271

rs_2147472132

4 SubmittersRCV001782185 RCV003509695

NM_000169.3(GLA):c.401A>C (p.Tyr134Ser)

SNV
Germline

ChrX:101401778

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

rs_2147477791

1 SubmittersRCV005644949

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

CA413921198

rs_1555984858

5 SubmittersRCV001782191 RCV001806264

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

SNV
Germline

ChrX:101398912

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413924944

rs_2147473301

3 SubmittersRCV001782193 RCV002541195

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

SNV
Germline

ChrX:101407726

Conflicting classifications of pathogenicity

Fabry disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA413936715

rs_727504689

3 SubmittersRCV001784081 RCV005635209

NM_000169.3(GLA):c.61C>T (p.Leu21Phe)

SNV
Germline

ChrX:101407843

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

CA031556

rs_782164084

2 SubmittersRCV001789803

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

SNV
Germline

ChrX:101398930

Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413925068

rs_2147473404

2 SubmittersRCV001789804

NM_000169.3(GLA):c.53T>C (p.Phe18Ser)

SNV
Germline

ChrX:101407851

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413937712

rs_2147487622

5 SubmittersRCV001794976 RCV005645305

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

CA413929172

rs_869312311

3 SubmittersRCV001799418 RCV002503288

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

SNV
Germline

ChrX:101403987

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413934816

rs_2147480960

2 SubmittersRCV001815142

NM_000169.3(GLA):c.504A>C (p.Lys168Asn)

SNV
Germline

ChrX:101401675

Pathogenic

Nephrotic syndrome
Fabry disease

Criteria Provided
Single Submitter

CA413928983

rs_2147477422

2 SubmittersRCV001849885 RCV005645311

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

SNV
Germline

ChrX:101400700

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA413927355

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

CA413923423

rs_869312429

3 SubmittersRCV002013540 RCV002423245

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

SNV
Germline

ChrX:101400664

Pathogenic/Likely pathogenic

Fabry disease
Nonpapillary renal cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA413927014

rs_2147475773

3 SubmittersRCV002013573 RCV005925606

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

SNV
Germline

ChrX:101398948

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA413925193

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

CA413922414

rs_104894846

2 SubmittersRCV001919968

NM_000169.3(GLA):c.546T>C (p.Asp182=)

SNV
Germline

ChrX:101401633

Conflicting classifications of pathogenicity

Fabry disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA517521823

rs_2147477318

4 SubmittersRCV001925934 RCV005350748

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

SNV
Germline

ChrX:101397981

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA413920532

rs_869312227

1 SubmittersRCV001946593

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

SNV
Germline

ChrX:101407777

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413937174

rs_886044906

2 SubmittersRCV001956188

NM_000169.3(GLA):c.700G>T (p.Asp234Tyr)

SNV
Germline

ChrX:101398886

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413924718

rs_1057524557

2 SubmittersRCV001941262

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

SNV
Germline

ChrX:101403842

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413933031

rs_2147480502

2 SubmittersRCV001963157

NM_000169.3(GLA):c.874G>A (p.Ala292Thr)

SNV
Germline

ChrX:101398495

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

CA333093204

rs_111812846

3 SubmittersRCV001928138

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

SNV
Germline

ChrX:101398878

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413924688

rs_869312386

2 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

CA413927258

rs_397515870

4 SubmittersRCV002293713 RCV003097834

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

SNV
Germline

ChrX:101398433

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413921800

rs_570042882

2 SubmittersRCV002293968

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

SNV
Germline

ChrX:101401667

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413928836

rs_2520895216

3 SubmittersRCV002344217 RCV003340486

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

SNV
Germline

ChrX:101401639

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Fabry disease

Criteria Provided
Conflicting Classifications

CA413928500

rs_869312145

3 SubmittersRCV002349418 RCV005645380

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

SNV
Germline

ChrX:101407857

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413937741

rs_869312310

3 SubmittersRCV002337874 RCV003096472

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

SNV
Germline

ChrX:101401805

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413930937

rs_2520897937

2 SubmittersRCV002471484

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

SNV
Germline

ChrX:101401796

Conflicting classifications of pathogenicity

Fabry disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA413930789

rs_2520897726

3 SubmittersRCV002471495 RCV004700768

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

SNV
Germline

ChrX:101398386

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413921320

rs_28935492

3 SubmittersRCV003066349

NM_000169.3(GLA):c.845C>A (p.Thr282Asn)

SNV
Germline

ChrX:101398524

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

CA413922960

rs_2520864023

2 SubmittersRCV003066352

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

SNV
Germline

ChrX:101401753

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413930126

rs_1421866281

3 SubmittersRCV003050638

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

SNV
Germline

ChrX:101403822

Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413932816

rs_2520911966

2 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

CA16602197

rs_2520914744

3 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

CA413937084

rs_398123203

4 SubmittersRCV003066356 RCV003491211

NM_000169.3(GLA):c.118C>G (p.Pro40Ala)

SNV
Germline

ChrX:101407786

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

CA413937249

rs_104894831

2 SubmittersRCV003050639

NM_000169.3(GLA):c.215T>C (p.Met72Thr)

SNV
Germline

ChrX:101403965

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

CA413934453

rs_1569304920

2 SubmittersRCV003062810

NM_000169.3(GLA):c.548-5T>A

SNV
Germline

ChrX:101400762

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

CA2580100070

rs_2147476253

3 SubmittersRCV003021624

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

SNV
Germline

ChrX:101407709

Pathogenic

Fabry disease
Nonpapillary renal cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA413936542

rs_868966337

3 SubmittersRCV003026559 RCV005926800

NM_000169.3(GLA):c.316C>T (p.Leu106Phe)

SNV
Germline

ChrX:101403864

Conflicting classifications of pathogenicity

Condition: not provided
Fabry disease

Criteria Provided
Conflicting Classifications

CA413933314

rs_1178979608

3 SubmittersRCV003131020 RCV005645449

NM_000169.3(GLA):c.145C>A (p.Arg49Ser)

SNV
Germline

ChrX:101407759

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413937009

rs_2520943698

2 SubmittersRCV003135372 RCV005645450

NM_000169.3(GLA):c.1166C>T (p.Pro389Leu)

SNV
Germline

ChrX:101397933

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413919970

rs_2520850221

2 SubmittersRCV003143308 RCV005645453

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

SNV
Unknown

ChrX:101398807

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA413923957

rs_2520869335

1 SubmittersRCV003153125

NM_000169.3(GLA):c.796G>C (p.Asp266His)

SNV
Germline

ChrX:101398790

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Fabry disease

Criteria Provided
Conflicting Classifications

CA413923816

rs_869312407

2 SubmittersRCV003305372 RCV005645466

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

SNV
Germline

ChrX:101397931

Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413919966

rs_1555984776

2 SubmittersRCV003317714

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

SNV
Germline

ChrX:101397966

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413920360

rs_2520851123

3 SubmittersRCV003335936

NM_000169.3(GLA):c.816C>A (p.Asn272Lys)

SNV
Germline

ChrX:101398553

Pathogenic

GLA-related disorder
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413923380

rs_2520864961

2 SubmittersRCV003408715 RCV005645474

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

SNV
Germline

ChrX:101398004

Pathogenic

GLA-related disorder
Fabry disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA413920675

rs_104894849

3 SubmittersRCV003410482 RCV005645475 RCV004992603

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

SNV
Unknown

ChrX:101398920

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA413925011

rs_104894851

1 SubmittersRCV003484584

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

SNV
Germline

ChrX:101407788

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA413937260

rs_201819574

1 SubmittersRCV003484242

NM_000169.3(GLA):c.1202C>G (p.Ser401Ter)

SNV
Germline

ChrX:101397897

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413919504

rs_2520849314

2 SubmittersRCV003489369 RCV005645494

NM_000169.3(GLA):c.581C>T (p.Thr194Ile)

SNV
Germline

ChrX:101400724

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413927659

rs_2520887188

2 SubmittersRCV003489370 RCV005645495

NM_000169.3(GLA):c.602C>T (p.Ser201Phe)

SNV
Germline

ChrX:101400703

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413927379

rs_2520886754

2 SubmittersRCV003489371 RCV005645496

NM_000169.3(GLA):c.1166C>G (p.Pro389Arg)

SNV
Germline

ChrX:101397933

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

CA413919968

rs_2520850221

2 SubmittersRCV003509068

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

SNV
Germline

ChrX:101398461

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413922201

rs_2520861972

2 SubmittersRCV003509070

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

SNV
Germline

ChrX:101398483

Pathogenic/Likely pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413922464

rs_104894830

3 SubmittersRCV003509071 RCV004701743

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

SNV
Germline

ChrX:101398560

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413923442

rs_2520865089

2 SubmittersRCV003509073

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

SNV
Germline

ChrX:101401665

Pathogenic/Likely pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413928829

rs_2520895194

3 SubmittersRCV003509075 RCV005643490

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

SNV
Germline

ChrX:101407728

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA413936733

rs_2520943061

1 SubmittersRCV003622772

NM_000169.3(GLA):c.848A>G (p.Gln283Arg)

SNV
Germline

ChrX:101398521

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

CA413922915

rs_2520863912

2 SubmittersRCV004007997

NM_000169.3(GLA):c.1001G>A (p.Gly334Glu)

SNV
Germline

ChrX:101398098

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

CA029427

rs_782690996

3 SubmittersRCV004016750

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

SNV
Germline

ChrX:101397934

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413919986

rs_2520850302

4 SubmittersRCV004015430

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

SNV
Germline

ChrX:101397954

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

CA413920253

rs_113993943

1 SubmittersRCV004549030

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

SNV
Germline

ChrX:101398805

Likely pathogenic

Fabry disease
Fabry disease, cardiac variant

Criteria Provided
Multiple Submitters
No Conflicts

rs_886044878

3 SubmittersRCV004584265 RCV005235760

NM_000169.3(GLA):c.811G>T (p.Gly271Cys)

SNV
Germline

ChrX:101398558

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004629642 RCV005645800

NM_000169.3(GLA):c.139T>C (p.Trp47Arg)

SNV
Germline

ChrX:101407765

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV004719542 RCV005645804

NM_000169.3(GLA):c.640-394C>T

SNV
Germline

ChrX:101399340

Pathogenic/Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004729609 RCV005645805

NM_000169.3(GLA):c.557A>C (p.His186Pro)

SNV
Germline

ChrX:101400748

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004798126

NM_000169.3(GLA):c.465T>A (p.Asp155Glu)

SNV
Germline

ChrX:101401714

Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_782197072

2 SubmittersRCV004801956

NM_000169.3(GLA):c.269G>A (p.Cys90Tyr)

SNV
Germline

ChrX:101403911

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644911

NM_000169.3(GLA):c.609G>C (p.Glu203Asp)

SNV
Germline

ChrX:101400696

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005128894

NM_000169.3(GLA):c.413G>T (p.Gly138Val)

SNV
Germline

ChrX:101401766

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005144021

NM_000169.3(GLA):c.400T>C (p.Tyr134His)

SNV
Germline

ChrX:101401779

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005179338

NM_000169.3(GLA):c.313A>T (p.Arg105Ter)

SNV
Germline

ChrX:101403867

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005197348

NM_000169.3(GLA):c.1084C>A (p.Pro362Thr)

SNV
Germline

ChrX:101398015

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005199142

NM_000169.3(GLA):c.881T>C (p.Leu294Ser)

SNV
Germline

ChrX:101398488

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005199143

NM_000169.3(GLA):c.794C>T (p.Pro265Leu)

SNV
Germline

ChrX:101398792

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005199144

NM_000169.3(GLA):c.779G>A (p.Gly260Glu)

SNV
Germline

ChrX:101398807

Pathogenic/Likely pathogenic

Fabry disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV005199145 RCV005223202

NM_000169.3(GLA):c.514T>G (p.Cys172Gly)

SNV
Germline

ChrX:101401665

Pathogenic

Fabry disease
Condition: not provided
Nonpapillary renal cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV005199147 RCV005632861 RCV005938036

NM_000169.3(GLA):c.285G>T (p.Trp95Cys)

SNV
Germline

ChrX:101403895

Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005199154

NM_000169.3(GLA):c.278A>G (p.Asp93Gly)

SNV
Germline

ChrX:101403902

Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005199156

NM_000169.3(GLA):c.275A>T (p.Asp92Val)

SNV
Germline

ChrX:101403905

Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005199157

NM_000169.3(GLA):c.149T>G (p.Phe50Cys)

SNV
Germline

ChrX:101407755

Likely pathogenic

Fabry disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV005199158 RCV005844454

NM_000169.3(GLA):c.145C>G (p.Arg49Gly)

SNV
Germline

ChrX:101407759

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005199159

NM_000169.3(GLA):c.1197G>A (p.Trp399Ter)

SNV
Germline

ChrX:101397902

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005234903

NM_000169.3(GLA):c.216G>A (p.Met72Ile)

SNV
Germline

ChrX:101403964

Conflicting classifications of pathogenicity

not specified
Fabry disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005239920 RCV005645856

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

SNV
Germline

ChrX:101400744

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005253529

NM_000169.3(GLA):c.1117G>C (p.Gly373Arg)

SNV
Germline

ChrX:101397982

Likely pathogenic

Cardiovascular phenotype
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005346019 RCV005645883

NM_000169.3(GLA):c.685T>G (p.Phe229Val)

SNV
Germline

ChrX:101398901

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

2 SubmittersRCV005616001

NM_000169.3(GLA):c.256T>G (p.Tyr86Asp)

SNV
Germline

ChrX:101403924

Likely pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005636436 RCV005645897

NM_000169.3(GLA):c.145C>T (p.Arg49Cys)

SNV
Germline

ChrX:101407759

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005635874 RCV005645893

NM_000169.3(GLA):c.831G>A (p.Trp277Ter)

SNV
Germline

ChrX:101398538

Pathogenic

Condition: not provided
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005635891 RCV005645895

NM_000169.3(GLA):c.547+4A>G

SNV
Germline

ChrX:101401628

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005644695

NM_000169.3(GLA):c.547+395G>C

SNV
Germline

ChrX:101401237

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644696

NM_000169.3(GLA):c.639+5G>T

SNV
Germline

ChrX:101400661

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644703

NM_000169.3(GLA):c.640-11T>A

SNV
Germline

ChrX:101398957

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644714

NM_000169.3(GLA):c.801+48T>G

SNV
Germline

ChrX:101398737

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644720

NM_000169.3(GLA):c.140G>A (p.Trp47Ter)

SNV
Germline

ChrX:101407764

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644726

NM_000169.3(GLA):c.141G>A (p.Trp47Ter)

SNV
Germline

ChrX:101407763

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005644727

NM_000169.3(GLA):c.156C>A (p.Cys52Ter)

SNV
Germline

ChrX:101407748

Pathogenic

Fabry disease
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

2 SubmittersRCV005644728 RCV005936186

NM_000169.3(GLA):c.168C>A (p.Cys56Ter)

SNV
Germline

ChrX:101407736

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644729

NM_000169.3(GLA):c.243G>A (p.Trp81Ter)

SNV
Germline

ChrX:101403937

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644733

NM_000169.3(GLA):c.258T>G (p.Tyr86Ter)

SNV
Germline

ChrX:101403922

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644734

NM_000169.3(GLA):c.264C>G (p.Tyr88Ter)

SNV
Germline

ChrX:101403916

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644735

NM_000169.3(GLA):c.270C>A (p.Cys90Ter)

SNV
Germline

ChrX:101403910

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644737

NM_000169.3(GLA):c.284G>A (p.Trp95Ter)

SNV
Germline

ChrX:101403896

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644738

NM_000169.3(GLA):c.305C>G (p.Ser102Ter)

SNV
Germline

ChrX:101403875

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644740

NM_000169.3(GLA):c.305C>A (p.Ser102Ter)

SNV
Germline

ChrX:101403875

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644742

NM_000169.3(GLA):c.331C>T (p.Gln111Ter)

SNV
Germline

ChrX:101403849

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644744

NM_000169.3(GLA):c.369T>G (p.Tyr123Ter)

SNV
Germline

ChrX:101403811

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644745

NM_000169.3(GLA):c.487G>T (p.Gly163Ter)

SNV
Germline

ChrX:101401692

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644748

NM_000169.3(GLA):c.502A>T (p.Lys168Ter)

SNV
Germline

ChrX:101401677

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644749

NM_000169.3(GLA):c.519C>A (p.Tyr173Ter)

SNV
Germline

ChrX:101401660

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644750

NM_000169.3(GLA):c.522T>A (p.Cys174Ter)

SNV
Germline

ChrX:101401657

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644751

NM_000169.3(GLA):c.530T>A (p.Leu177Ter)

SNV
Germline

ChrX:101401649

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644753

NM_000169.3(GLA):c.553A>T (p.Lys185Ter)

SNV
Germline

ChrX:101400752

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644754

NM_000169.3(GLA):c.607G>T (p.Glu203Ter)

SNV
Germline

ChrX:101400698

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644756

NM_000169.3(GLA):c.612G>A (p.Trp204Ter)

SNV
Germline

ChrX:101400693

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644757

NM_000169.3(GLA):c.634C>T (p.Gln212Ter)

SNV
Germline

ChrX:101400671

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644760

NM_000169.3(GLA):c.678G>A (p.Trp226Ter)

SNV
Germline

ChrX:101398908

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644762

NM_000169.3(GLA):c.718A>T (p.Lys240Ter)

SNV
Germline

ChrX:101398868

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644765

NM_000169.3(GLA):c.728T>A (p.Leu243Ter)

SNV
Germline

ChrX:101398858

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644766

NM_000169.3(GLA):c.772G>T (p.Gly258Ter)

SNV
Germline

ChrX:101398814

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644767

NM_000169.3(GLA):c.860G>A (p.Trp287Ter)

SNV
Germline

ChrX:101398509

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005644770

NM_000169.3(GLA):c.881T>G (p.Leu294Ter)

SNV
Germline

ChrX:101398488

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644771

NM_000169.3(GLA):c.934C>T (p.Gln312Ter)

SNV
Germline

ChrX:101398435

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644773

NM_000169.3(GLA):c.961C>T (p.Gln321Ter)

SNV
Germline

ChrX:101398408

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644775

NM_000169.3(GLA):c.987C>A (p.Tyr329Ter)

SNV
Germline

ChrX:101398382

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644776

NM_000169.3(GLA):c.988C>T (p.Gln330Ter)

SNV
Germline

ChrX:101398381

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644777

NM_000169.3(GLA):c.1012G>T (p.Glu338Ter)

SNV
Germline

ChrX:101398087

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644778

NM_000169.3(GLA):c.1034C>G (p.Ser345Ter)

SNV
Germline

ChrX:101398065

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644779

NM_000169.3(GLA):c.1081G>T (p.Gly361Ter)

SNV
Germline

ChrX:101398018

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644782

NM_000169.3(GLA):c.1134T>A (p.Cys378Ter)

SNV
Germline

ChrX:101397965

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644786

NM_000169.3(GLA):c.1146C>A (p.Cys382Ter)

SNV
Germline

ChrX:101397953

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644787

NM_000169.3(GLA):c.1202C>A (p.Ser401Ter)

SNV
Germline

ChrX:101397897

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644791

NM_000169.3(GLA):c.194+2T>C

SNV
Germline

ChrX:101407708

Pathogenic

Fabry disease
Nonpapillary renal cell carcinoma

Criteria Provided
Single Submitter

2 SubmittersRCV005644793 RCV005936187

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

SNV
Germline

ChrX:101403986

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644794

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

SNV
Germline

ChrX:101401631

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644799

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

SNV
Germline

ChrX:101401631

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644800

NM_000169.3(GLA):c.548-1G>C

SNV
Germline

ChrX:101400758

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644802

NM_000169.3(GLA):c.548-1G>T

SNV
Germline

ChrX:101400758

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644803

NM_000169.3(GLA):c.639+1G>C

SNV
Germline

ChrX:101400665

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644805

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

SNV
Germline

ChrX:101398948

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644807

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

SNV
Germline

ChrX:101398948

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644808

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

SNV
Germline

ChrX:101398947

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644809

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

SNV
Germline

ChrX:101398784

Pathogenic

Fabry disease
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

2 SubmittersRCV005644811 RCV005936188

NM_000169.3(GLA):c.801+2T>C

SNV
Germline

ChrX:101398783

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644812

NM_000169.3(GLA):c.802-1G>C

SNV
Germline

ChrX:101398568

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644815

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

SNV
Germline

ChrX:101398369

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644816

NM_000169.3(GLA):c.1000-2A>G

SNV
Germline

ChrX:101398101

Pathogenic

Fabry disease
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

2 SubmittersRCV005644818 RCV005936189

NM_000169.3(GLA):c.1000-2A>T

SNV
Germline

ChrX:101398101

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644819

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

SNV
Germline

ChrX:101398100

Pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005644821

NM_000169.3(GLA):c.1288T>C (p.Ter430Gln)

SNV
Germline

ChrX:101397811

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644837

NM_000169.3(GLA):c.44C>G (p.Ala15Gly)

SNV
Germline

ChrX:101407860

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644863

NM_000169.3(GLA):c.146G>T (p.Arg49Leu)

SNV
Germline

ChrX:101407758

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644864

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

SNV
Germline

ChrX:101407751

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644865

NM_000169.3(GLA):c.152T>A (p.Met51Lys)

SNV
Germline

ChrX:101407752

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644866

NM_000169.3(GLA):c.155G>T (p.Cys52Phe)

SNV
Germline

ChrX:101407749

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644867

NM_000169.3(GLA):c.154T>A (p.Cys52Ser)

SNV
Germline

ChrX:101407750

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644870

NM_000169.3(GLA):c.156C>G (p.Cys52Trp)

SNV
Germline

ChrX:101407748

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644871

NM_000169.3(GLA):c.155G>A (p.Cys52Tyr)

SNV
Germline

ChrX:101407749

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644872

NM_000169.3(GLA):c.160C>T (p.Leu54Phe)

SNV
Germline

ChrX:101407744

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644877

NM_000169.3(GLA):c.161T>C (p.Leu54Pro)

SNV
Germline

ChrX:101407743

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644879

NM_000169.3(GLA):c.175G>A (p.Glu59Lys)

SNV
Germline

ChrX:101407729

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644881

NM_000169.3(GLA):c.47T>A (p.Leu16His)

SNV
Germline

ChrX:101407857

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644882

NM_000169.3(GLA):c.187T>G (p.Cys63Gly)

SNV
Germline

ChrX:101407717

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644883

NM_000169.3(GLA):c.187T>A (p.Cys63Ser)

SNV
Germline

ChrX:101407717

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644884

NM_000169.3(GLA):c.188G>C (p.Cys63Ser)

SNV
Germline

ChrX:101407716

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644885

NM_000169.3(GLA):c.194G>T (p.Ser65Ile)

SNV
Germline

ChrX:101407710

Pathogenic

Fabry disease
Thyroid cancer, nonmedullary, 1
Nonpapillary renal cell carcinoma

Criteria Provided
Single Submitter

2 SubmittersRCV005644886 RCV005936191 RCV005936190

NM_000169.3(GLA):c.196G>A (p.Glu66Lys)

SNV
Germline

ChrX:101403984

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644887

NM_000169.3(GLA):c.203T>C (p.Leu68Pro)

SNV
Germline

ChrX:101403977

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644888

NM_000169.3(GLA):c.205T>C (p.Phe69Leu)

SNV
Germline

ChrX:101403975

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644889

NM_000169.3(GLA):c.207C>A (p.Phe69Leu)

SNV
Germline

ChrX:101403973

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644890

NM_000169.3(GLA):c.206T>C (p.Phe69Ser)

SNV
Germline

ChrX:101403974

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644891

NM_000169.3(GLA):c.215T>G (p.Met72Arg)

SNV
Germline

ChrX:101403965

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644893

NM_000169.3(GLA):c.214A>G (p.Met72Val)

SNV
Germline

ChrX:101403966

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644894

NM_000169.3(GLA):c.218C>A (p.Ala73Glu)

SNV
Germline

ChrX:101403962

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644895

NM_000169.3(GLA):c.218C>T (p.Ala73Val)

SNV
Germline

ChrX:101403962

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644897

NM_000169.3(GLA):c.227T>G (p.Met76Arg)

SNV
Germline

ChrX:101403953

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644898

NM_000169.3(GLA):c.243G>C (p.Trp81Cys)

SNV
Germline

ChrX:101403937

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644899

NM_000169.3(GLA):c.53T>G (p.Phe18Cys)

SNV
Germline

ChrX:101407851

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644900

NM_000169.3(GLA):c.243G>T (p.Trp81Cys)

SNV
Germline

ChrX:101403937

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644901

NM_000169.3(GLA):c.241T>C (p.Trp81Arg)

SNV
Germline

ChrX:101403939

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644902

NM_000169.3(GLA):c.253G>A (p.Gly85Ser)

SNV
Germline

ChrX:101403927

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644903

NM_000169.3(GLA):c.257A>G (p.Tyr86Cys)

SNV
Germline

ChrX:101403923

Pathogenic

Fabry disease
Nonpapillary renal cell carcinoma

Criteria Provided
Single Submitter

2 SubmittersRCV005644904 RCV005936192

NM_000169.3(GLA):c.257A>T (p.Tyr86Phe)

SNV
Germline

ChrX:101403923

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644905

NM_000169.3(GLA):c.263A>G (p.Tyr88Cys)

SNV
Germline

ChrX:101403917

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644906

NM_000169.3(GLA):c.262T>G (p.Tyr88Asp)

SNV
Germline

ChrX:101403918

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644907

NM_000169.3(GLA):c.266T>A (p.Leu89His)

SNV
Germline

ChrX:101403914

Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005644908

NM_000169.3(GLA):c.266T>C (p.Leu89Pro)

SNV
Germline

ChrX:101403914

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644909

NM_000169.3(GLA):c.270C>G (p.Cys90Trp)

SNV
Germline

ChrX:101403910

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644910

NM_000169.3(GLA):c.279C>G (p.Asp93Glu)

SNV
Germline

ChrX:101403901

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644913

NM_000169.3(GLA):c.278A>T (p.Asp93Val)

SNV
Germline

ChrX:101403902

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644914

NM_000169.3(GLA):c.277G>T (p.Asp93Tyr)

SNV
Germline

ChrX:101403903

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644915

NM_000169.3(GLA):c.280T>C (p.Cys94Arg)

SNV
Germline

ChrX:101403900

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644916

NM_000169.3(GLA):c.283T>G (p.Trp95Gly)

SNV
Germline

ChrX:101403897

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644917

NM_000169.3(GLA):c.284G>T (p.Trp95Leu)

SNV
Germline

ChrX:101403896

Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005644918

NM_000169.3(GLA):c.283T>C (p.Trp95Arg)

SNV
Germline

ChrX:101403897

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644919

NM_000169.3(GLA):c.284G>C (p.Trp95Ser)

SNV
Germline

ChrX:101403896

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644920

NM_000169.3(GLA):c.288G>A (p.Met96Ile)

SNV
Germline

ChrX:101403892

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005644921

NM_000169.3(GLA):c.289G>C (p.Ala97Pro)

SNV
Germline

ChrX:101403891

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644923

NM_000169.3(GLA):c.299G>C (p.Arg100Thr)

SNV
Germline

ChrX:101403881

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644925

NM_000169.3(GLA):c.317T>G (p.Leu106Arg)

SNV
Germline

ChrX:101403863

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644928

NM_000169.3(GLA):c.334C>G (p.Arg112Gly)

SNV
Germline

ChrX:101403846

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644930

NM_000169.3(GLA):c.371T>A (p.Val124Asp)

SNV
Germline

ChrX:101401808

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644937

NM_000169.3(GLA):c.371T>G (p.Val124Gly)

SNV
Germline

ChrX:101401808

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644938

NM_000169.3(GLA):c.374A>C (p.His125Pro)

SNV
Germline

ChrX:101401805

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644939

NM_000169.3(GLA):c.376A>T (p.Ser126Cys)

SNV
Germline

ChrX:101401803

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644940

NM_000169.3(GLA):c.388A>G (p.Lys130Glu)

SNV
Germline

ChrX:101401791

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644941

NM_000169.3(GLA):c.392T>G (p.Leu131Arg)

SNV
Germline

ChrX:101401787

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644944

NM_000169.3(GLA):c.395G>C (p.Gly132Ala)

SNV
Germline

ChrX:101401784

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644945

NM_000169.3(GLA):c.395G>A (p.Gly132Glu)

SNV
Germline

ChrX:101401784

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644946

NM_000169.3(GLA):c.398T>A (p.Ile133Asn)

SNV
Germline

ChrX:101401781

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644947

NM_000169.3(GLA):c.401A>G (p.Tyr134Cys)

SNV
Germline

ChrX:101401778

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644948

NM_000169.3(GLA):c.62T>G (p.Leu21Arg)

SNV
Germline

ChrX:101407842

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644950

NM_000169.3(GLA):c.408T>A (p.Asp136Glu)

SNV
Germline

ChrX:101401771

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644951

NM_000169.3(GLA):c.408T>G (p.Asp136Glu)

SNV
Germline

ChrX:101401771

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644952

NM_000169.3(GLA):c.406G>C (p.Asp136His)

SNV
Germline

ChrX:101401773

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644953

NM_000169.3(GLA):c.422C>A (p.Thr141Asn)

SNV
Germline

ChrX:101401757

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644955

NM_000169.3(GLA):c.425G>T (p.Cys142Phe)

SNV
Germline

ChrX:101401754

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644956

NM_000169.3(GLA):c.426C>G (p.Cys142Trp)

SNV
Germline

ChrX:101401753

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644957

NM_000169.3(GLA):c.425G>A (p.Cys142Tyr)

SNV
Germline

ChrX:101401754

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644958

NM_000169.3(GLA):c.440G>T (p.Gly147Val)

SNV
Germline

ChrX:101401739

Likely pathogenic

Fabry disease
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

2 SubmittersRCV005644962 RCV005936193

NM_000169.3(GLA):c.455A>G (p.Tyr152Cys)

SNV
Germline

ChrX:101401724

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644963

NM_000169.3(GLA):c.454T>C (p.Tyr152His)

SNV
Germline

ChrX:101401725

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644964

NM_000169.3(GLA):c.455A>C (p.Tyr152Ser)

SNV
Germline

ChrX:101401724

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644965

NM_000169.3(GLA):c.479C>A (p.Ala160Asp)

SNV
Germline

ChrX:101401700

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644971

NM_000169.3(GLA):c.486G>T (p.Trp162Cys)

SNV
Germline

ChrX:101401693

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644973

NM_000169.3(GLA):c.484T>G (p.Trp162Gly)

SNV
Germline

ChrX:101401695

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644974

NM_000169.3(GLA):c.487G>C (p.Gly163Arg)

SNV
Germline

ChrX:101401692

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644975

NM_000169.3(GLA):c.488G>T (p.Gly163Val)

SNV
Germline

ChrX:101401691

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644976

NM_000169.3(GLA):c.491T>G (p.Val164Gly)

SNV
Germline

ChrX:101401688

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644978

NM_000169.3(GLA):c.494A>G (p.Asp165Gly)

SNV
Germline

ChrX:101401685

Likely pathogenic

Fabry disease
Nonpapillary renal cell carcinoma

Criteria Provided
Single Submitter

2 SubmittersRCV005644979 RCV005936194

NM_000169.3(GLA):c.494A>T (p.Asp165Val)

SNV
Germline

ChrX:101401685

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644981

NM_000169.3(GLA):c.493G>T (p.Asp165Tyr)

SNV
Germline

ChrX:101401686

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644982

NM_000169.3(GLA):c.496C>G (p.Leu166Val)

SNV
Germline

ChrX:101401683

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644983

NM_000169.3(GLA):c.500T>A (p.Leu167Gln)

SNV
Germline

ChrX:101401679

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644984

NM_000169.3(GLA):c.502A>C (p.Lys168Gln)

SNV
Germline

ChrX:101401677

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644985

NM_000169.3(GLA):c.503A>G (p.Lys168Arg)

SNV
Germline

ChrX:101401676

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644986

NM_000169.3(GLA):c.506T>C (p.Phe169Ser)

SNV
Germline

ChrX:101401673

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644988

NM_000169.3(GLA):c.508G>C (p.Asp170His)

SNV
Germline

ChrX:101401671

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644989

NM_000169.3(GLA):c.509A>T (p.Asp170Val)

SNV
Germline

ChrX:101401670

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644991

NM_000169.3(GLA):c.511G>T (p.Gly171Cys)

SNV
Germline

ChrX:101401668

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644992

NM_000169.3(GLA):c.511G>C (p.Gly171Arg)

SNV
Germline

ChrX:101401668

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644993

NM_000169.3(GLA):c.512G>T (p.Gly171Val)

SNV
Germline

ChrX:101401667

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644994

NM_000169.3(GLA):c.515G>T (p.Cys172Phe)

SNV
Germline

ChrX:101401664

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644995

NM_000169.3(GLA):c.515G>C (p.Cys172Ser)

SNV
Germline

ChrX:101401664

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644996

NM_000169.3(GLA):c.516T>G (p.Cys172Trp)

SNV
Germline

ChrX:101401663

Likely pathogenic

Fabry disease
Melanoma

Criteria Provided
Single Submitter

2 SubmittersRCV005644997 RCV005936195

NM_000169.3(GLA):c.520T>G (p.Cys174Gly)

SNV
Germline

ChrX:101401659

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005644999

NM_000169.3(GLA):c.521G>A (p.Cys174Tyr)

SNV
Germline

ChrX:101401658

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645000

NM_000169.3(GLA):c.547G>T (p.Gly183Cys)

SNV
Germline

ChrX:101401632

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645005

NM_000169.3(GLA):c.551A>G (p.Tyr184Cys)

SNV
Germline

ChrX:101400754

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645006

NM_000169.3(GLA):c.550T>A (p.Tyr184Asn)

SNV
Germline

ChrX:101400755

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645007

NM_000169.3(GLA):c.560T>A (p.Met187Lys)

SNV
Germline

ChrX:101400745

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645008

NM_000169.3(GLA):c.572T>A (p.Leu191Gln)

SNV
Germline

ChrX:101400733

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645012

NM_000169.3(GLA):c.95T>A (p.Leu32Gln)

SNV
Germline

ChrX:101407809

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645013

NM_000169.3(GLA):c.584G>T (p.Gly195Val)

SNV
Germline

ChrX:101400721

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645014

NM_000169.3(GLA):c.602C>A (p.Ser201Tyr)

SNV
Germline

ChrX:101400703

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645016

NM_000169.3(GLA):c.612G>C (p.Trp204Cys)

SNV
Germline

ChrX:101400693

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645019

NM_000169.3(GLA):c.612G>T (p.Trp204Cys)

SNV
Germline

ChrX:101400693

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645020

NM_000169.3(GLA):c.97G>C (p.Asp33His)

SNV
Germline

ChrX:101407807

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645023

NM_000169.3(GLA):c.614C>G (p.Pro205Arg)

SNV
Germline

ChrX:101400691

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645024

NM_000169.3(GLA):c.613C>T (p.Pro205Ser)

SNV
Germline

ChrX:101400692

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005645025

NM_000169.3(GLA):c.617T>C (p.Leu206Pro)

SNV
Germline

ChrX:101400688

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645517

NM_000169.3(GLA):c.97G>T (p.Asp33Tyr)

SNV
Germline

ChrX:101407807

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645518

NM_000169.3(GLA):c.623T>A (p.Met208Lys)

SNV
Germline

ChrX:101400682

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645519

NM_000169.3(GLA):c.623T>G (p.Met208Arg)

SNV
Germline

ChrX:101400682

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645520

NM_000169.3(GLA):c.639G>C (p.Lys213Asn)

SNV
Germline

ChrX:101400666

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645525

NM_000169.3(GLA):c.100A>C (p.Asn34His)

SNV
Germline

ChrX:101407804

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645531

NM_000169.3(GLA):c.656T>A (p.Ile219Asn)

SNV
Germline

ChrX:101398930

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645532

NM_000169.3(GLA):c.659G>C (p.Arg220Pro)

SNV
Germline

ChrX:101398927

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645534

NM_000169.3(GLA):c.668G>T (p.Cys223Phe)

SNV
Germline

ChrX:101398918

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645537

NM_000169.3(GLA):c.102T>G (p.Asn34Lys)

SNV
Germline

ChrX:101407802

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645539

NM_000169.3(GLA):c.668G>C (p.Cys223Ser)

SNV
Germline

ChrX:101398918

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645540

NM_000169.3(GLA):c.670A>C (p.Asn224His)

SNV
Germline

ChrX:101398916

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645541

NM_000169.3(GLA):c.672T>G (p.Asn224Lys)

SNV
Germline

ChrX:101398914

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645542

NM_000169.3(GLA):c.102T>A (p.Asn34Lys)

SNV
Germline

ChrX:101407802

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645543

NM_000169.3(GLA):c.678G>T (p.Trp226Cys)

SNV
Germline

ChrX:101398908

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645544

NM_000169.3(GLA):c.676T>G (p.Trp226Gly)

SNV
Germline

ChrX:101398910

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645545

NM_000169.3(GLA):c.676T>C (p.Trp226Arg)

SNV
Germline

ChrX:101398910

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645546

NM_000169.3(GLA):c.692A>G (p.Asp231Gly)

SNV
Germline

ChrX:101398894

Pathogenic/Likely pathogenic

Fabry disease
Hereditary coproporphyria

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005645549 RCV005860505

NM_000169.3(GLA):c.691G>A (p.Asp231Asn)

SNV
Germline

ChrX:101398895

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645550

NM_000169.3(GLA):c.692A>T (p.Asp231Val)

SNV
Germline

ChrX:101398894

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645551

NM_000169.3(GLA):c.702T>G (p.Asp234Glu)

SNV
Germline

ChrX:101398884

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645552

NM_000169.3(GLA):c.704C>T (p.Ser235Phe)

SNV
Germline

ChrX:101398882

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645553

NM_000169.3(GLA):c.704C>A (p.Ser235Tyr)

SNV
Germline

ChrX:101398882

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645554

NM_000169.3(GLA):c.707G>T (p.Trp236Leu)

SNV
Germline

ChrX:101398879

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645556

NM_000169.3(GLA):c.103G>C (p.Gly35Arg)

SNV
Germline

ChrX:101407801

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645561

NM_000169.3(GLA):c.725T>A (p.Ile242Asn)

SNV
Germline

ChrX:101398861

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645562

NM_000169.3(GLA):c.725T>C (p.Ile242Thr)

SNV
Germline

ChrX:101398861

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645563

NM_000169.3(GLA):c.728T>C (p.Leu243Ser)

SNV
Germline

ChrX:101398858

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645564

NM_000169.3(GLA):c.728T>G (p.Leu243Trp)

SNV
Germline

ChrX:101398858

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645565

NM_000169.3(GLA):c.103G>A (p.Gly35Arg)

SNV
Germline

ChrX:101407801

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645567

NM_000169.3(GLA):c.733T>C (p.Trp245Arg)

SNV
Germline

ChrX:101398853

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645568

NM_000169.3(GLA):c.737C>T (p.Thr246Ile)

SNV
Germline

ChrX:101398849

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645569

NM_000169.3(GLA):c.740C>G (p.Ser247Cys)

SNV
Germline

ChrX:101398846

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645570

NM_000169.3(GLA):c.749A>G (p.Gln250Arg)

SNV
Germline

ChrX:101398837

Conflicting classifications of pathogenicity

Fabry disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005645573

NM_000169.3(GLA):c.104G>T (p.Gly35Val)

SNV
Germline

ChrX:101407800

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645575

NM_000169.3(GLA):c.758T>G (p.Ile253Ser)

SNV
Germline

ChrX:101398828

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645576

NM_000169.3(GLA):c.770C>A (p.Ala257Asp)

SNV
Germline

ChrX:101398816

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645578

NM_000169.3(GLA):c.769G>C (p.Ala257Pro)

SNV
Germline

ChrX:101398817

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645580

NM_000169.3(GLA):c.772G>A (p.Gly258Arg)

SNV
Germline

ChrX:101398814

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645581

NM_000169.3(GLA):c.772G>C (p.Gly258Arg)

SNV
Germline

ChrX:101398814

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645582

NM_000169.3(GLA):c.108G>T (p.Leu36Phe)

SNV
Germline

ChrX:101407796

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645584

NM_000169.3(GLA):c.773G>T (p.Gly258Val)

SNV
Germline

ChrX:101398813

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645585

NM_000169.3(GLA):c.779G>C (p.Gly260Ala)

SNV
Germline

ChrX:101398807

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645588

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

SNV
Germline

ChrX:101398808

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645589

NM_000169.3(GLA):c.108G>C (p.Leu36Phe)

SNV
Germline

ChrX:101407796

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645590

NM_000169.3(GLA):c.791A>C (p.Asp264Ala)

SNV
Germline

ChrX:101398795

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645593

NM_000169.3(GLA):c.107T>C (p.Leu36Ser)

SNV
Germline

ChrX:101407797

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645594

NM_000169.3(GLA):c.794C>G (p.Pro265Arg)

SNV
Germline

ChrX:101398792

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645595

NM_000169.3(GLA):c.798T>A (p.Asp266Glu)

SNV
Germline

ChrX:101398788

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645596

NM_000169.3(GLA):c.797A>G (p.Asp266Gly)

SNV
Germline

ChrX:101398789

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645597

NM_000169.3(GLA):c.796G>T (p.Asp266Tyr)

SNV
Germline

ChrX:101398790

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645598

NM_000169.3(GLA):c.804A>C (p.Leu268Phe)

SNV
Germline

ChrX:101398565

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645600

NM_000169.3(GLA):c.803T>C (p.Leu268Ser)

SNV
Germline

ChrX:101398566

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645601

NM_000169.3(GLA):c.810T>G (p.Ile270Met)

SNV
Germline

ChrX:101398559

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645603

NM_000169.3(GLA):c.812G>A (p.Gly271Asp)

SNV
Germline

ChrX:101398557

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645605

NM_000169.3(GLA):c.815A>T (p.Asn272Ile)

SNV
Germline

ChrX:101398554

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645606

NM_000169.3(GLA):c.109G>T (p.Ala37Ser)

SNV
Germline

ChrX:101407795

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645607

NM_000169.3(GLA):c.819T>A (p.Phe273Leu)

SNV
Germline

ChrX:101398550

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645608

NM_000169.3(GLA):c.817T>C (p.Phe273Leu)

SNV
Germline

ChrX:101398552

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645609

NM_000169.3(GLA):c.819T>G (p.Phe273Leu)

SNV
Germline

ChrX:101398550

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645610

NM_000169.3(GLA):c.821G>A (p.Gly274Asp)

SNV
Germline

ChrX:101398548

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645611

NM_000169.3(GLA):c.820G>A (p.Gly274Ser)

SNV
Germline

ChrX:101398549

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645612

NM_000169.3(GLA):c.821G>T (p.Gly274Val)

SNV
Germline

ChrX:101398548

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645613

NM_000169.3(GLA):c.827G>A (p.Ser276Asn)

SNV
Germline

ChrX:101398542

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645615

NM_000169.3(GLA):c.827G>C (p.Ser276Thr)

SNV
Germline

ChrX:101398542

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645616

NM_000169.3(GLA):c.837G>C (p.Gln279His)

SNV
Germline

ChrX:101398532

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645618

NM_000169.3(GLA):c.837G>T (p.Gln279His)

SNV
Germline

ChrX:101398532

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645619

NM_000169.3(GLA):c.110C>T (p.Ala37Val)

SNV
Germline

ChrX:101407794

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645620

NM_000169.3(GLA):c.835C>A (p.Gln279Lys)

SNV
Germline

ChrX:101398534

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645621

NM_000169.3(GLA):c.838C>A (p.Gln280Lys)

SNV
Germline

ChrX:101398531

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645624

NM_000169.3(GLA):c.844A>G (p.Thr282Ala)

SNV
Germline

ChrX:101398525

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645625

NM_000169.3(GLA):c.845C>T (p.Thr282Ile)

SNV
Germline

ChrX:101398524

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645626

NM_000169.3(GLA):c.844A>C (p.Thr282Pro)

SNV
Germline

ChrX:101398525

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645627

NM_000169.3(GLA):c.848A>C (p.Gln283Pro)

SNV
Germline

ChrX:101398521

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645629

NM_000169.3(GLA):c.850A>G (p.Met284Val)

SNV
Germline

ChrX:101398519

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645630

NM_000169.3(GLA):c.854C>A (p.Ala285Asp)

SNV
Germline

ChrX:101398515

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645631

NM_000169.3(GLA):c.853G>C (p.Ala285Pro)

SNV
Germline

ChrX:101398516

Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005645632

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

SNV
Germline

ChrX:101398508

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645634

NM_000169.3(GLA):c.859T>G (p.Trp287Gly)

SNV
Germline

ChrX:101398510

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645635

NM_000169.3(GLA):c.859T>C (p.Trp287Arg)

SNV
Germline

ChrX:101398510

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645636

NM_000169.3(GLA):c.860G>C (p.Trp287Ser)

SNV
Germline

ChrX:101398509

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645637

NM_000169.3(GLA):c.866T>G (p.Ile289Ser)

SNV
Germline

ChrX:101398503

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645639

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

SNV
Germline

ChrX:101398501

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645640

NM_000169.3(GLA):c.877C>G (p.Pro293Ala)

SNV
Germline

ChrX:101398492

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645642

NM_000169.3(GLA):c.878C>A (p.Pro293His)

SNV
Germline

ChrX:101398491

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645643

NM_000169.3(GLA):c.119C>A (p.Pro40His)

SNV
Germline

ChrX:101407785

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645644

NM_000169.3(GLA):c.877C>A (p.Pro293Thr)

SNV
Germline

ChrX:101398492

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645645

NM_000169.3(GLA):c.892A>G (p.Asn298Asp)

SNV
Germline

ChrX:101398477

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645646

NM_000169.3(GLA):c.892A>C (p.Asn298His)

SNV
Germline

ChrX:101398477

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645647

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

SNV
Germline

ChrX:101398475

Pathogenic

Fabry disease
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

2 SubmittersRCV005645648 RCV005936197

NM_000169.3(GLA):c.896A>T (p.Asp299Val)

SNV
Germline

ChrX:101398473

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645651

NM_000169.3(GLA):c.899T>A (p.Leu300His)

SNV
Germline

ChrX:101398470

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645652

NM_000169.3(GLA):c.908T>G (p.Ile303Ser)

SNV
Germline

ChrX:101398461

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645656

NM_000169.3(GLA):c.908T>C (p.Ile303Thr)

SNV
Germline

ChrX:101398461

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645657

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

SNV
Germline

ChrX:101398445

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645661

NM_000169.3(GLA):c.925G>C (p.Ala309Pro)

SNV
Germline

ChrX:101398444

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645662

NM_000169.3(GLA):c.122C>T (p.Thr41Ile)

SNV
Germline

ChrX:101407782

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645663

NM_000169.3(GLA):c.928C>T (p.Leu310Phe)

SNV
Germline

ChrX:101398441

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645664

NM_000169.3(GLA):c.929T>G (p.Leu310Arg)

SNV
Germline

ChrX:101398440

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645665

NM_000169.3(GLA):c.928C>G (p.Leu310Val)

SNV
Germline

ChrX:101398441

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645666

NM_000169.3(GLA):c.932T>C (p.Leu311Pro)

SNV
Germline

ChrX:101398437

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645667

NM_000169.3(GLA):c.932T>G (p.Leu311Arg)

SNV
Germline

ChrX:101398437

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645668

NM_000169.3(GLA):c.931C>G (p.Leu311Val)

SNV
Germline

ChrX:101398438

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645669

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

SNV
Germline

ChrX:101398433

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645670

NM_000169.3(GLA):c.935A>G (p.Gln312Arg)

SNV
Germline

ChrX:101398434

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645671

NM_000169.3(GLA):c.947T>A (p.Val316Glu)

SNV
Germline

ChrX:101398422

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645675

NM_000169.3(GLA):c.947T>G (p.Val316Gly)

SNV
Germline

ChrX:101398422

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645676

NM_000169.3(GLA):c.126G>A (p.Met42Ile)

SNV
Germline

ChrX:101407778

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645677

NM_000169.3(GLA):c.950T>A (p.Ile317Asn)

SNV
Germline

ChrX:101398419

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645678

NM_000169.3(GLA):c.955A>T (p.Ile319Phe)

SNV
Germline

ChrX:101398414

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645679

NM_000169.3(GLA):c.960T>G (p.Asn320Lys)

SNV
Germline

ChrX:101398409

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645681

NM_000169.3(GLA):c.958A>T (p.Asn320Tyr)

SNV
Germline

ChrX:101398411

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645682

NM_000169.3(GLA):c.963G>C (p.Gln321His)

SNV
Germline

ChrX:101398406

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645683

NM_000169.3(GLA):c.962A>T (p.Gln321Leu)

SNV
Germline

ChrX:101398407

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645684

NM_000169.3(GLA):c.964G>C (p.Asp322His)

SNV
Germline

ChrX:101398405

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645685

NM_000169.3(GLA):c.125T>A (p.Met42Lys)

SNV
Germline

ChrX:101407779

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645687

NM_000169.3(GLA):c.973G>C (p.Gly325Arg)

SNV
Germline

ChrX:101398396

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645689

NM_000169.3(GLA):c.981A>C (p.Gln327His)

SNV
Germline

ChrX:101398388

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645691

NM_000169.3(GLA):c.982G>T (p.Gly328Trp)

SNV
Germline

ChrX:101398387

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645693

NM_000169.3(GLA):c.1010T>C (p.Phe337Ser)

SNV
Germline

ChrX:101398089

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645694

NM_000169.3(GLA):c.1012G>A (p.Glu338Lys)

SNV
Germline

ChrX:101398087

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645695

NM_000169.3(GLA):c.125T>G (p.Met42Arg)

SNV
Germline

ChrX:101407779

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645696

NM_000169.3(GLA):c.1016T>G (p.Val339Gly)

SNV
Germline

ChrX:101398083

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645697

NM_000169.3(GLA):c.1019G>C (p.Trp340Ser)

SNV
Germline

ChrX:101398080

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645698

NM_000169.3(GLA):c.1022A>G (p.Glu341Gly)

SNV
Germline

ChrX:101398077

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645699

NM_000169.3(GLA):c.1025G>T (p.Arg342Leu)

SNV
Germline

ChrX:101398074

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645700

NM_000169.3(GLA):c.1033T>C (p.Ser345Pro)

SNV
Germline

ChrX:101398066

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645703

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

SNV
Germline

ChrX:101398054

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645704

NM_000169.3(GLA):c.1048G>C (p.Ala350Pro)

SNV
Germline

ChrX:101398051

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645705

NM_000169.3(GLA):c.1055C>A (p.Ala352Asp)

SNV
Germline

ChrX:101398044

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645706

NM_000169.3(GLA):c.1054G>C (p.Ala352Pro)

SNV
Germline

ChrX:101398045

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645707

NM_000169.3(GLA):c.1065C>A (p.Asn355Lys)

SNV
Germline

ChrX:101398034

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645709

NM_000169.3(GLA):c.1066C>G (p.Arg356Gly)

SNV
Germline

ChrX:101398033

Pathogenic/Likely pathogenic

Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005645710

NM_000169.3(GLA):c.1073A>C (p.Glu358Ala)

SNV
Germline

ChrX:101398026

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645711

NM_000169.3(GLA):c.128G>A (p.Gly43Asp)

SNV
Germline

ChrX:101407776

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645712

NM_000169.3(GLA):c.1078G>T (p.Gly360Cys)

SNV
Germline

ChrX:101398021

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645714

NM_000169.3(GLA):c.1082G>C (p.Gly361Ala)

SNV
Germline

ChrX:101398017

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645716

NM_000169.3(GLA):c.1082G>A (p.Gly361Glu)

SNV
Germline

ChrX:101398017

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645717

NM_000169.3(GLA):c.1088G>C (p.Arg363Pro)

SNV
Germline

ChrX:101398011

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645718

NM_000169.3(GLA):c.1115T>A (p.Leu372Gln)

SNV
Germline

ChrX:101397984

Likely pathogenic

Fabry disease
Nonpapillary renal cell carcinoma

Criteria Provided
Single Submitter

2 SubmittersRCV005645720 RCV005936198

NM_000169.3(GLA):c.1115T>G (p.Leu372Arg)

SNV
Germline

ChrX:101397984

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645721

NM_000169.3(GLA):c.1130C>A (p.Ala377Asp)

SNV
Germline

ChrX:101397969

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645723

NM_000169.3(GLA):c.1133G>T (p.Cys378Phe)

SNV
Germline

ChrX:101397966

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645724

NM_000169.3(GLA):c.1146C>G (p.Cys382Trp)

SNV
Germline

ChrX:101397953

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645726

NM_000169.3(GLA):c.1151T>A (p.Ile384Asn)

SNV
Germline

ChrX:101397948

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645728

NM_000169.3(GLA):c.1153A>C (p.Thr385Pro)

SNV
Germline

ChrX:101397946

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645730

NM_000169.3(GLA):c.1163T>A (p.Leu388His)

SNV
Germline

ChrX:101397936

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645732

NM_000169.3(GLA):c.1171A>G (p.Lys391Glu)

SNV
Germline

ChrX:101397928

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645733

NM_000169.3(GLA):c.1184G>A (p.Gly395Glu)

SNV
Germline

ChrX:101397915

Conflicting classifications of pathogenicity

Fabry disease
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005645735 RCV006278283

NM_000169.3(GLA):c.1208T>C (p.Leu403Ser)

SNV
Germline

ChrX:101397891

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645737

NM_000169.3(GLA):c.1220T>A (p.Ile407Lys)

SNV
Germline

ChrX:101397879

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645741

NM_000169.3(GLA):c.130T>G (p.Trp44Gly)

SNV
Germline

ChrX:101407774

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645742

NM_000169.3(GLA):c.1220T>G (p.Ile407Arg)

SNV
Germline

ChrX:101397879

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645743

NM_000169.3(GLA):c.1226C>T (p.Pro409Leu)

SNV
Germline

ChrX:101397873

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645744

NM_000169.3(GLA):c.1225C>A (p.Pro409Thr)

SNV
Germline

ChrX:101397874

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645745

NM_000169.3(GLA):c.1228A>C (p.Thr410Pro)

SNV
Germline

ChrX:101397871

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645746

NM_000169.3(GLA):c.1232G>A (p.Gly411Asp)

SNV
Germline

ChrX:101397867

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645747

NM_000169.3(GLA):c.134T>C (p.Leu45Pro)

SNV
Germline

ChrX:101407770

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645748

NM_000169.3(GLA):c.1231G>C (p.Gly411Arg)

SNV
Germline

ChrX:101397868

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645749

NM_000169.3(GLA):c.1235C>A (p.Thr412Asn)

SNV
Germline

ChrX:101397864

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645750

NM_000169.3(GLA):c.1234A>C (p.Thr412Pro)

SNV
Germline

ChrX:101397865

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645751

NM_000169.3(GLA):c.1250T>G (p.Leu417Arg)

SNV
Germline

ChrX:101397849

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645754

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

SNV
Germline

ChrX:101407763

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645757

NM_000169.3(GLA):c.139T>G (p.Trp47Gly)

SNV
Germline

ChrX:101407765

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645758

NM_000169.3(GLA):c.140G>T (p.Trp47Leu)

SNV
Germline

ChrX:101407764

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645759

NM_000169.3(GLA):c.144G>T (p.Glu48Asp)

SNV
Germline

ChrX:101407760

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645760

NM_000169.3(GLA):c.143A>G (p.Glu48Gly)

SNV
Germline

ChrX:101407761

Likely pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645762

NM_000169.3(GLA):c.142G>A (p.Glu48Lys)

SNV
Germline

ChrX:101407762

Pathogenic

Fabry disease

Criteria Provided
Single Submitter

1 SubmittersRCV005645763