Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000553.6(WRN):c.3913C>T (p.Arg1305Ter)	SNV Germline	Chr8:31157461	Pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA253482	rs_121908446	6 SubmittersRCV000005777
NM_000553.6(WRN):c.3493C>T (p.Gln1165Ter)	SNV Germline	Chr8:31147397	Pathogenic	Werner syndrome	Criteria Provided Single Submitter	CA253485	rs_121908447	2 SubmittersRCV000005778
NM_000553.6(WRN):c.3139-1G>C	SNV Germline	Chr8:31141680	Pathogenic	Werner syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA284838	rs_113993961	6 SubmittersRCV000005780 RCV000058932
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter)	SNV Germline	Chr8:31081132	Pathogenic/Likely pathogenic	Werner syndrome Medulloblastoma Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA340413	rs_17847577	12 SubmittersRCV000005782 RCV000722025 RCV001546857
NM_000553.6(WRN):c.3686A>T (p.Gln1229Leu)	SNV Germline	Chr8:31150454	Pathogenic	Werner syndrome	No Assertion Criteria Provided	CA253490	rs_369158322	1 SubmittersRCV000005783
NM_000553.6(WRN):c.1730A>T (p.Lys577Met)	SNV Germline	Chr8:31090843	Pathogenic	Werner syndrome	No Assertion Criteria Provided	CA253493	rs_121908448	1 SubmittersRCV000005785
NM_000553.6(WRN):c.2089-3024A>G	SNV Germline	Chr8:31108591	Pathogenic/Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA343148	rs_281865157	3 SubmittersRCV000032135
NM_000553.6(WRN):c.1530A>T (p.Glu510Asp)	SNV Germline	Chr8:31087874	Conflicting classifications of pathogenicity	not specified Werner syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA162695	rs_149565907	5 SubmittersRCV000122272 RCV000226111 RCV003237732
NM_000553.6(WRN):c.1835C>G (p.Ser612Cys)	SNV Germline	Chr8:31091835	Conflicting classifications of pathogenicity	not specified Werner syndrome	Criteria Provided Conflicting Classifications	CA162704	rs_11574250	3 SubmittersRCV000122275 RCV000552831
NM_000553.6(WRN):c.1909C>T (p.Arg637Trp)	SNV Germline	Chr8:31096778	Conflicting classifications of pathogenicity	not specified Condition: not provided Werner syndrome WRN-related disorder	Criteria Provided Conflicting Classifications	CA162710	rs_148286708	7 SubmittersRCV000122277 RCV000725735 RCV001080213 RCV003398738
NM_000553.6(WRN):c.95A>G (p.Lys32Arg)	SNV Germline	Chr8:31058542	Conflicting classifications of pathogenicity	not specified Werner syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA162716	rs_34477820	10 SubmittersRCV000122279 RCV000344080 RCV000857870
NM_000553.6(WRN):c.2937T>G (p.Ile979Met)	SNV Germline	Chr8:31132476	Conflicting classifications of pathogenicity	not specified Werner syndrome Wiskott-Aldrich syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA162722	rs_147802438	6 SubmittersRCV000122281 RCV000233425 RCV003315783 RCV004721269
NM_000553.6(WRN):c.2978G>A (p.Arg993His)	SNV Germline	Chr8:31141440	Conflicting classifications of pathogenicity	not specified Werner syndrome Condition: not provided Ovarian cancer	Criteria Provided Conflicting Classifications	CA162731	rs_370713742	6 SubmittersRCV000122284 RCV000456321 RCV001579799 RCV003153404
NM_000553.6(WRN):c.2983G>A (p.Ala995Thr)	SNV Germline	Chr8:31141445	Conflicting classifications of pathogenicity	not specified Werner syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA162734	rs_140768346	8 SubmittersRCV000122285 RCV000227936 RCV000857886 RCV004019696
NM_000553.6(WRN):c.2986G>A (p.Asp996Asn)	SNV Germline	Chr8:31141448	Conflicting classifications of pathogenicity	not specified Werner syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA162737	rs_138379977	8 SubmittersRCV000122286 RCV000230775 RCV000726887
NM_000553.6(WRN):c.3422C>T (p.Ser1141Leu)	SNV Germline	Chr8:31147091	Conflicting classifications of pathogenicity	not specified Condition: not provided Werner syndrome WRN-related disorder	Criteria Provided Conflicting Classifications	CA162743	rs_139323683	6 SubmittersRCV000122288 RCV000724001 RCV001083827 RCV003915221
NM_000553.6(WRN):c.107G>A (p.Arg36Gln)	SNV Germline	Chr8:31059163	Conflicting classifications of pathogenicity	not specified Condition: not provided Werner syndrome Wiskott-Aldrich syndrome WRN-related disorder	Criteria Provided Conflicting Classifications	CA162746	rs_34084741	6 SubmittersRCV000122289 RCV000733018 RCV001085837 RCV003315785 RCV003925216
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg)	SNV Germline	Chr8:31154721	Conflicting classifications of pathogenicity	not specified Werner syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA162758	rs_78488552	11 SubmittersRCV000122293 RCV000231281 RCV000858031
NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr)	SNV Germline	Chr8:31157423	Conflicting classifications of pathogenicity	not specified Werner syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA162761	rs_142614369	11 SubmittersRCV000122294 RCV000228973 RCV000727484
NM_000553.6(WRN):c.4127C>T (p.Pro1376Leu)	SNV Germline	Chr8:31167166	Conflicting classifications of pathogenicity	not specified Werner syndrome	Criteria Provided Conflicting Classifications	CA162767	rs_146055899	3 SubmittersRCV000122296 RCV000547973
NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter)	SNV Germline	Chr8:31173019	Conflicting classifications of pathogenicity	not specified Werner syndrome Condition: not provided Wiskott-Aldrich syndrome	Criteria Provided Conflicting Classifications	CA162779	rs_11574410	10 SubmittersRCV000122300 RCV000988046 RCV001785472 RCV003315787
NM_000553.6(WRN):c.514A>C (p.Thr172Pro)	SNV Germline	Chr8:31067042	Conflicting classifications of pathogenicity	not specified Werner syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA162785	rs_367991517	4 SubmittersRCV000122302 RCV000464655 RCV001753506
NM_000553.6(WRN):c.720T>G (p.Asn240Lys)	SNV Germline	Chr8:31068323	Conflicting classifications of pathogenicity	not specified Werner syndrome WRN-related disorder	Criteria Provided Conflicting Classifications	CA162794	rs_148229804	5 SubmittersRCV000122305 RCV000533817 RCV003935170
NM_000553.6(WRN):c.968C>T (p.Ser323Leu)	SNV Germline	Chr8:31080995	Conflicting classifications of pathogenicity	not specified Werner syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA162803	rs_369277330	3 SubmittersRCV000122308 RCV000470767 RCV002469016
NM_000553.6(WRN):c.1149G>T (p.Leu383Phe)	SNV Germline	Chr8:31081176	Conflicting classifications of pathogenicity	not specified Werner syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA162806	rs_4987238	8 SubmittersRCV000122309 RCV000228291 RCV000857885 RCV002515905
NM_000553.6(WRN):c.1992C>T (p.Leu664=)	SNV Germline	Chr8:31100859	Conflicting classifications of pathogenicity	Condition: not provided Werner syndrome	Criteria Provided Conflicting Classifications	CA240995	rs_794727200	2 SubmittersRCV000175276 RCV001088323
NM_000553.6(WRN):c.561A>G (p.Lys187=)	SNV Germline	Chr8:31067089	Pathogenic/Likely pathogenic	Condition: not provided Werner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA275342	rs_775802030	4 SubmittersRCV000179333 RCV001095680
NM_000553.6(WRN):c.16T>C (p.Leu6=)	SNV Germline	Chr8:31058463	Conflicting classifications of pathogenicity	Werner syndrome	Criteria Provided Conflicting Classifications	CA4703956	rs_202148988	2 SubmittersRCV000229850
NM_000553.6(WRN):c.355+4G>C	SNV Germline	Chr8:31064438	Conflicting classifications of pathogenicity	Werner syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA4704039	rs_145764920	8 SubmittersRCV000233017 RCV000597305 RCV001818577
NM_000553.6(WRN):c.1717A>G (p.Thr573Ala)	SNV Germline	Chr8:31090529	Conflicting classifications of pathogenicity	Werner syndrome WRN-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA4704456	rs_150148567	7 SubmittersRCV000227669 RCV003919923 RCV000858340
NM_000553.6(WRN):c.2067C>T (p.Ser689=)	SNV Germline	Chr8:31100934	Conflicting classifications of pathogenicity	Condition: not provided Werner syndrome WRN-related disorder	Criteria Provided Conflicting Classifications	CA4704609	rs_191757062	3 SubmittersRCV000596682 RCV001081277 RCV003955314
NM_000553.6(WRN):c.2131C>T (p.Arg711Trp)	SNV Germline	Chr8:31111657	Conflicting classifications of pathogenicity	Werner syndrome not specified Condition: not provided WRN-related disorder	Criteria Provided Conflicting Classifications	CA4704654	rs_34560788	4 SubmittersRCV000228524 RCV001818575 RCV003237788 RCV003967619
NM_000553.6(WRN):c.2342C>T (p.Thr781Ile)	SNV Germline	Chr8:31116422	Conflicting classifications of pathogenicity	Werner syndrome Ovarian cancer WRN-related disorder	Criteria Provided Conflicting Classifications	CA4704724	rs_17847568	4 SubmittersRCV000229198 RCV003153528 RCV003967620
NM_000553.6(WRN):c.2735T>G (p.Ile912Ser)	SNV Germline	Chr8:31124910	Conflicting classifications of pathogenicity	Werner syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4704842	rs_11574323	6 SubmittersRCV000229443 RCV001357192
NM_000553.6(WRN):c.3139-9T>C	SNV Germline	Chr8:31141672	Conflicting classifications of pathogenicity	Werner syndrome	Criteria Provided Conflicting Classifications	CA4704951	rs_377226126	2 SubmittersRCV000231433
NM_000553.6(WRN):c.3259A>G (p.Lys1087Glu)	SNV Germline	Chr8:31142651	Conflicting classifications of pathogenicity	Werner syndrome WRN-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA4704995	rs_374154973	6 SubmittersRCV000232120 RCV003919924 RCV001356218
NM_000553.6(WRN):c.3417T>C (p.Ser1139=)	SNV Germline	Chr8:31147086	Conflicting classifications of pathogenicity	Werner syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4705056	rs_752542644	3 SubmittersRCV000226632 RCV003437017
NM_000553.6(WRN):c.3453G>A (p.Glu1151=)	SNV Germline	Chr8:31147122	Conflicting classifications of pathogenicity	Condition: not provided Werner syndrome not specified	Criteria Provided Conflicting Classifications	CA4705062	rs_144116311	7 SubmittersRCV000393449 RCV001083791 RCV001818576
NM_000553.6(WRN):c.3738G>A (p.Leu1246=)	SNV Germline	Chr8:31154674	Conflicting classifications of pathogenicity	Werner syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4705168	rs_147117969	5 SubmittersRCV000232559 RCV001579969
NM_000553.6(WRN):c.747C>T (p.Asp249=)	SNV Germline	Chr8:31076195	Conflicting classifications of pathogenicity	Condition: not provided Werner syndrome	Criteria Provided Conflicting Classifications	CA10606655	rs_374142752	2 SubmittersRCV000263920 RCV000542155
NM_000553.6(WRN):c.4035G>A (p.Thr1345=)	SNV Germline	Chr8:31167074	Conflicting classifications of pathogenicity	Condition: not provided Werner syndrome	Criteria Provided Conflicting Classifications	CA4705250	rs_767115441	2 SubmittersRCV000276259 RCV001087786
NM_000553.6(WRN):c.4180A>G (p.Ile1394Val)	SNV Germline	Chr8:31167219	Conflicting classifications of pathogenicity	Werner syndrome	Criteria Provided Conflicting Classifications	CA4705275	rs_545431480	2 SubmittersRCV000332436
NM_000553.6(WRN):c.1981+11A>G	SNV Germline	Chr8:31096861	Conflicting classifications of pathogenicity	Werner syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4704578	rs_189999761	3 SubmittersRCV000351456 RCV003237831
NM_000553.6(WRN):c.2088+6C>T	SNV Germline	Chr8:31100961	Conflicting classifications of pathogenicity	Werner syndrome WRN-related disorder	Criteria Provided Conflicting Classifications	CA10627641	rs_886062888	3 SubmittersRCV000297853 RCV003897808
NM_000553.6(WRN):c.3078A>G (p.Gly1026=)	SNV Germline	Chr8:31141540	Conflicting classifications of pathogenicity	Werner syndrome	Criteria Provided Conflicting Classifications	CA10627656	rs_886062892	2 SubmittersRCV000275448
NM_000553.6(WRN):c.2128A>G (p.Ile710Val)	SNV Germline	Chr8:31111654	Conflicting classifications of pathogenicity	Werner syndrome Ovarian cancer Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4704653	rs_180814740	4 SubmittersRCV000338817 RCV003153566 RCV003168567
NM_000553.6(WRN):c.2959C>T (p.Arg987Ter)	SNV Germline	Chr8:31132498	Pathogenic/Likely pathogenic	Werner syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA4704889	rs_747319628	4 SubmittersRCV000269754 RCV003884511
NM_000553.6(WRN):c.3819+14T>C	SNV Germline	Chr8:31154769	Conflicting classifications of pathogenicity	Werner syndrome	Criteria Provided Conflicting Classifications	CA10630898	rs_886062894	2 SubmittersRCV000362535
NM_000553.6(WRN):c.3972C>T (p.Pro1324=)	SNV Germline	Chr8:31157520	Conflicting classifications of pathogenicity	Werner syndrome	Criteria Provided Conflicting Classifications	CA4705216	rs_370253199	2 SubmittersRCV000309215
NM_000553.6(WRN):c.1898+2T>G	SNV Germline	Chr8:31091900	Conflicting classifications of pathogenicity	Werner syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4704521	rs_772319506	4 SubmittersRCV000471062 RCV004597802
NM_000553.6(WRN):c.2665C>T (p.Arg889Ter)	SNV Germline	Chr8:31124556	Pathogenic	Werner syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA4704812	rs_774765029	6 SubmittersRCV000456191 RCV001580038
NM_000553.6(WRN):c.3059G>A (p.Arg1020His)	SNV Germline	Chr8:31141521	Conflicting classifications of pathogenicity	Werner syndrome WRN-related disorder	Criteria Provided Conflicting Classifications	CA4704927	rs_115298665	3 SubmittersRCV000468223 RCV003972753
NM_000553.6(WRN):c.3383+5A>C	SNV Germline	Chr8:31143628	Conflicting classifications of pathogenicity	Werner syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4705030	rs_374867947	2 SubmittersRCV000465573 RCV000594507
NM_000553.6(WRN):c.3900C>A (p.Pro1300=)	SNV Germline	Chr8:31157448	Conflicting classifications of pathogenicity	Werner syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA4705204	rs_138886038	6 SubmittersRCV000475640 RCV000502949 RCV001579420
NM_000553.6(WRN):c.130C>G (p.Leu44Val)	SNV Germline	Chr8:31059186	Conflicting classifications of pathogenicity	Werner syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4703988	rs_139775895	4 SubmittersRCV000470096 RCV001591059
NM_000553.6(WRN):c.1181C>T (p.Ser394Leu)	SNV Germline	Chr8:31081208	Conflicting classifications of pathogenicity	Werner syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4704263	rs_200487813	3 SubmittersRCV000464118 RCV002510900
NM_000553.6(WRN):c.2784A>G (p.Gly928=)	SNV Germline	Chr8:31124959	Conflicting classifications of pathogenicity	Condition: not provided Werner syndrome	Criteria Provided Conflicting Classifications	CA4704849	rs_755729832	2 SubmittersRCV000730682 RCV001409017
NM_000553.6(WRN):c.2985C>T (p.Ala995=)	SNV Germline	Chr8:31141447	Conflicting classifications of pathogenicity	Werner syndrome	Criteria Provided Conflicting Classifications	CA4704914	rs_150095039	2 SubmittersRCV000469843
NM_000553.6(WRN):c.3893G>T (p.Gly1298Val)	SNV Germline	Chr8:31157441	Conflicting classifications of pathogenicity	Werner syndrome Ovarian cancer	Criteria Provided Conflicting Classifications	CA4705201	rs_202129203	4 SubmittersRCV000462991 RCV003153572
NM_000553.6(WRN):c.673C>T (p.Arg225Ter)	SNV Germline	Chr8:31068276	Pathogenic/Likely pathogenic	Werner syndrome WRN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA4704137	rs_370324188	4 SubmittersRCV000473494 RCV003418150
NM_000553.6(WRN):c.1350+3A>G	SNV Germline	Chr8:31083782	Conflicting classifications of pathogenicity	Werner syndrome WRN-related disorder	Criteria Provided Conflicting Classifications	CA4704315	rs_182813211	2 SubmittersRCV000465749 RCV003392287
NM_000553.6(WRN):c.1382C>T (p.Thr461Met)	SNV Germline	Chr8:31085197	Conflicting classifications of pathogenicity	Werner syndrome Ovarian cancer	Criteria Provided Conflicting Classifications	CA4704342	rs_371602600	3 SubmittersRCV000456237 RCV003153573
NM_000553.6(WRN):c.3162T>C (p.Ala1054=)	SNV Germline	Chr8:31141704	Conflicting classifications of pathogenicity	Werner syndrome	Criteria Provided Conflicting Classifications	CA4704953	rs_111426441	2 SubmittersRCV000469169
NM_000553.6(WRN):c.327T>A (p.Cys109Ter)	SNV Germline	Chr8:31064406	Pathogenic	Werner syndrome	Criteria Provided Single Submitter	CA370914384	rs_371538747	1 SubmittersRCV000538668
NM_000553.6(WRN):c.2119A>G (p.Ser707Gly)	SNV Germline	Chr8:31111645	Conflicting classifications of pathogenicity	Werner syndrome not specified	Criteria Provided Conflicting Classifications	CA4704651	rs_761240520	2 SubmittersRCV000551629 RCV004767337
NM_000553.6(WRN):c.1378G>A (p.Asp460Asn)	SNV Germline	Chr8:31085193	Conflicting classifications of pathogenicity	Werner syndrome Wiskott-Aldrich syndrome WRN-related disorder	Criteria Provided Conflicting Classifications	CA4704341	rs_556958354	4 SubmittersRCV000551303 RCV003316686 RCV003942745
NM_000553.6(WRN):c.172G>A (p.Asp58Asn)	SNV Germline	Chr8:31059228	Conflicting classifications of pathogenicity	Werner syndrome Ovarian cancer	Criteria Provided Conflicting Classifications	CA4703996	rs_773803207	2 SubmittersRCV000538283 RCV003153686
NM_000553.6(WRN):c.210-1G>A	SNV Germline	Chr8:31064288	Pathogenic/Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA4704015	rs_758988621	2 SubmittersRCV000537557
NM_000553.6(WRN):c.3384-1G>A	SNV Germline	Chr8:31147052	Pathogenic/Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA4705050	rs_776963381	3 SubmittersRCV000548461
NM_000553.6(WRN):c.3801A>G (p.Gln1267=)	SNV Germline	Chr8:31154737	Conflicting classifications of pathogenicity	Werner syndrome WRN-related disorder	Criteria Provided Conflicting Classifications	CA4705178	rs_779902531	2 SubmittersRCV000542580 RCV003403263
NM_000553.6(WRN):c.3881C>T (p.Ala1294Val)	SNV Germline	Chr8:31157429	Conflicting classifications of pathogenicity	Werner syndrome	Criteria Provided Conflicting Classifications	CA4705198	rs_146861737	2 SubmittersRCV000546368
NM_000553.6(WRN):c.1302G>A (p.Thr434=)	SNV Germline	Chr8:31083731	Conflicting classifications of pathogenicity	Werner syndrome WRN-related disorder	Criteria Provided Conflicting Classifications	CA4704307	rs_374140086	3 SubmittersRCV000558517 RCV003942744
NM_000553.6(WRN):c.1879G>A (p.Val627Ile)	SNV Germline	Chr8:31091879	Conflicting classifications of pathogenicity	Werner syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4704517	rs_374688634	2 SubmittersRCV000531246 RCV000598531
NM_000553.6(WRN):c.724+1G>T	SNV Germline	Chr8:31068328	Pathogenic/Likely pathogenic	6 conditions Werner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA370917217	rs_1339616347	2 SubmittersRCV000626713 RCV001197400
NM_000553.6(WRN):c.3778G>A (p.Ala1260Thr)	SNV Germline	Chr8:31154714	Conflicting classifications of pathogenicity	Werner syndrome Ovarian cancer	Criteria Provided Conflicting Classifications	CA4705173	rs_201107091	4 SubmittersRCV000633207 RCV003153773
NM_000553.6(WRN):c.3582G>A (p.Thr1194=)	SNV Germline	Chr8:31150350	Conflicting classifications of pathogenicity	Werner syndrome	Criteria Provided Conflicting Classifications	CA4705123	rs_762685242	2 SubmittersRCV000633285
NM_000553.6(WRN):c.835C>T (p.Arg279Trp)	SNV Germline	Chr8:31076283	Conflicting classifications of pathogenicity	Werner syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4704170	rs_199923241	5 SubmittersRCV000633192 RCV004025425
NM_000553.6(WRN):c.1652+1G>A	SNV Germline	Chr8:31088966	Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA174864405	rs_777096501	2 SubmittersRCV000633232
NM_000553.6(WRN):c.2332C>T (p.Gln778Ter)	SNV Germline	Chr8:31116412	Pathogenic	Werner syndrome	Criteria Provided Single Submitter	CA370913548	rs_1554527775	1 SubmittersRCV000633241
NM_000553.6(WRN):c.2338G>A (p.Val780Ile)	SNV Germline	Chr8:31116418	Conflicting classifications of pathogenicity	Condition: not provided Werner syndrome	Criteria Provided Conflicting Classifications	CA4704723	rs_574787451	5 SubmittersRCV001572660 RCV001163334
NM_000553.6(WRN):c.2194C>T (p.Arg732Ter)	SNV Germline	Chr8:31111720	Pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA4704667	rs_143916053	2 SubmittersRCV000633216
NM_000553.6(WRN):c.2221C>T (p.Arg741Ter)	SNV Germline	Chr8:31111747	Pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts	CA4704672	rs_763089663	2 SubmittersRCV000633177
NM_000553.6(WRN):c.2604G>A (p.Trp868Ter)	SNV Germline	Chr8:31120398	Pathogenic	Werner syndrome	Criteria Provided Single Submitter	CA370915746	rs_1554528411	1 SubmittersRCV000633217
NM_000553.6(WRN):c.88G>T (p.Glu30Ter)	SNV Germline	Chr8:31058535	Pathogenic/Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1198210848	2 SubmittersRCV000689923
NM_000553.6(WRN):c.2994T>A (p.Tyr998Ter)	SNV Germline	Chr8:31141456	Pathogenic/Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1563376347	2 SubmittersRCV000706164
NM_000553.6(WRN):c.3102T>G (p.Tyr1034Ter)	SNV Germline	Chr8:31141564	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1563376526	1 SubmittersRCV000687948
NM_000553.6(WRN):c.201A>G (p.Glu67=)	SNV Germline	Chr8:31059257	Conflicting classifications of pathogenicity	Werner syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_764589321	2 SubmittersRCV000699639 RCV001771982
NM_000553.6(WRN):c.1145A>G (p.Lys382Arg)	SNV Germline	Chr8:31081172	Conflicting classifications of pathogenicity	Werner syndrome Inborn genetic diseases Ovarian cancer	Criteria Provided Conflicting Classifications		rs_541455377	3 SubmittersRCV000696122 RCV002532345 RCV003153809
NM_000553.6(WRN):c.1351-2A>G	SNV Germline	Chr8:31085164	Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1563341296	2 SubmittersRCV000705137
NM_000553.6(WRN):c.209+5G>A	SNV Germline	Chr8:31059270	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_754208761	1 SubmittersRCV000698561
NM_000553.6(WRN):c.554T>G (p.Leu185Ter)	SNV Germline	Chr8:31067082	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1563331288	1 SubmittersRCV000700194
NM_000553.6(WRN):c.1744C>T (p.Gln582Ter)	SNV Germline	Chr8:31090857	Pathogenic/Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_757808169	2 SubmittersRCV000689198
NM_000553.6(WRN):c.2170C>T (p.Gln724Ter)	SNV Germline	Chr8:31111696	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1563357741	1 SubmittersRCV000691593
NM_000553.6(WRN):c.3961C>T (p.Arg1321Ter)	SNV Germline	Chr8:31157509	Pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1303126572	2 SubmittersRCV000701196
NM_000553.6(WRN):c.1111G>T (p.Glu371Ter)	SNV Germline	Chr8:31081138	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1563338837	1 SubmittersRCV000703720
NM_000553.6(WRN):c.3233+1G>C	SNV Germline	Chr8:31141776	Pathogenic/Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1563376793	2 SubmittersRCV000705760
NM_000553.6(WRN):c.3309+1G>A	SNV Germline	Chr8:31142702	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1281075870	1 SubmittersRCV000685191
NM_000553.6(WRN):c.1982-2A>G	SNV Germline	Chr8:31100847	Conflicting classifications of pathogenicity	Werner syndrome	Criteria Provided Conflicting Classifications		rs_1563351045	2 SubmittersRCV000778858
NM_000553.6(WRN):c.171C>G (p.Tyr57Ter)	SNV Germline	Chr8:31059227	Pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_373806031	2 SubmittersRCV000808852
NM_000553.6(WRN):c.961G>T (p.Glu321Ter)	SNV Germline	Chr8:31080988	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_779012596	1 SubmittersRCV000794563
NM_000553.6(WRN):c.1908C>A (p.Tyr636Ter)	SNV Germline	Chr8:31096777	Pathogenic/Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1585449207	2 SubmittersRCV000812821
NM_000553.6(WRN):c.2028G>A (p.Trp676Ter)	SNV Germline	Chr8:31100895	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1585455586	1 SubmittersRCV000814029
NM_000553.6(WRN):c.2350C>T (p.Leu784Phe)	SNV Germline	Chr8:31116430	Conflicting classifications of pathogenicity	Werner syndrome Ovarian cancer	Criteria Provided Conflicting Classifications		rs_1585478310	2 SubmittersRCV000819480 RCV003153863
NM_000553.6(WRN):c.2544T>A (p.Tyr848Ter)	SNV Germline	Chr8:31120338	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1585483312	1 SubmittersRCV000809844
NM_000553.6(WRN):c.3042G>A (p.Trp1014Ter)	SNV Germline	Chr8:31141504	Pathogenic/Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_371720457	2 SubmittersRCV000822792
NM_000553.6(WRN):c.3394C>T (p.Gln1132Ter)	SNV Germline	Chr8:31147063	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1585521874	1 SubmittersRCV000821568
NM_000553.6(WRN):c.3937C>T (p.Gln1313Ter)	SNV Germline	Chr8:31157485	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1585536813	1 SubmittersRCV000812121
NM_000553.6(WRN):c.1431+2T>C	SNV Germline	Chr8:31085248	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1455462438	1 SubmittersRCV000814546
NM_000553.6(WRN):c.1829+5G>A	SNV Germline	Chr8:31090947	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_751015040	1 SubmittersRCV000804468
NM_000553.6(WRN):c.724+1G>A	SNV Germline	Chr8:31068328	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1339616347	1 SubmittersRCV000817095
NM_000553.6(WRN):c.3460-7T>A	SNV Germline	Chr8:31147357	Conflicting classifications of pathogenicity	Werner syndrome	Criteria Provided Conflicting Classifications		rs_1334937558	2 SubmittersRCV000801878
NM_000553.6(WRN):c.2449-2A>C	SNV Germline	Chr8:31120241	Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1585483030	2 SubmittersRCV000799008
NM_000553.6(WRN):c.3383+1G>T	SNV Germline	Chr8:31143624	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1413656527	1 SubmittersRCV000798163
NM_000553.6(WRN):c.3819+1G>A	SNV Germline	Chr8:31154756	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_748618811	1 SubmittersRCV000814888
NM_000553.6(WRN):c.3983-1G>T	SNV Germline	Chr8:31167021	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_752465293	1 SubmittersRCV000810173
NM_000553.6(WRN):c.1296C>T (p.Asn432=)	SNV Germline	Chr8:31083725	Conflicting classifications of pathogenicity	Werner syndrome WRN-related disorder	Criteria Provided Conflicting Classifications		rs_772082980	3 SubmittersRCV000861962 RCV004749479
NM_000553.6(WRN):c.3375T>C (p.Ser1125=)	SNV Germline	Chr8:31143615	Conflicting classifications of pathogenicity	Werner syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_377535272	2 SubmittersRCV000869622 RCV001766777
NM_000553.6(WRN):c.3483A>T (p.Val1161=)	SNV Germline	Chr8:31147387	Conflicting classifications of pathogenicity	Werner syndrome	Criteria Provided Conflicting Classifications		rs_1292940121	2 SubmittersRCV000951939
NM_000553.6(WRN):c.1351-1G>A	SNV Germline	Chr8:31085165	Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1170732591	3 SubmittersRCV000988045
NM_000553.6(WRN):c.171C>A (p.Tyr57Ter)	SNV Germline	Chr8:31059227	Pathogenic	Werner syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_373806031	2 SubmittersRCV001068691 RCV001091592
NM_000553.6(WRN):c.1486A>T (p.Lys496Ter)	SNV Germline	Chr8:31087830	Pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_751969803	2 SubmittersRCV001035933
NM_000553.6(WRN):c.1828A>T (p.Lys610Ter)	SNV Germline	Chr8:31090941	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1813725603	1 SubmittersRCV001067145
NM_000553.6(WRN):c.2242C>T (p.Gln748Ter)	SNV Germline	Chr8:31111768	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1801328287	1 SubmittersRCV001036042
NM_000553.6(WRN):c.2974C>T (p.Gln992Ter)	SNV Germline	Chr8:31141436	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1802623856	1 SubmittersRCV001057807
NM_000553.6(WRN):c.3238A>T (p.Lys1080Ter)	SNV Germline	Chr8:31142630	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1288018118	1 SubmittersRCV001049837
NM_000553.6(WRN):c.3724C>T (p.Gln1242Ter)	SNV Germline	Chr8:31154660	Pathogenic/Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_762379051	3 SubmittersRCV001057497
NM_000553.6(WRN):c.2732+1G>C	SNV Germline	Chr8:31124624	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1047229701	1 SubmittersRCV001071713
NM_000553.6(WRN):c.3820-2A>G	SNV Germline	Chr8:31157366	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_759685032	1 SubmittersRCV001035119
NM_000553.6(WRN):c.97-1G>A	SNV Germline	Chr8:31059152	Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_780988648	3 SubmittersRCV001069280
NM_000553.6(WRN):c.355+1G>T	SNV Germline	Chr8:31064435	Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_775196937	2 SubmittersRCV001056217
NM_000553.6(WRN):c.2968-1G>A	SNV Germline	Chr8:31141429	Likely pathogenic	Werner syndrome Condition: not provided	Criteria Provided Single Submitter		rs_1300106191	2 SubmittersRCV001049593 RCV001354971
NM_000553.6(WRN):c.3820-2A>C	SNV Germline	Chr8:31157366	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_759685032	1 SubmittersRCV001036726
NM_000553.6(WRN):c.219A>G (p.Leu73=)	SNV Germline	Chr8:31064298	Conflicting classifications of pathogenicity	Werner syndrome	Criteria Provided Conflicting Classifications		rs_566693857	2 SubmittersRCV001158490
NM_000553.6(WRN):c.2166T>C (p.Asn722=)	SNV Germline	Chr8:31111692	Conflicting classifications of pathogenicity	Werner syndrome	Criteria Provided Conflicting Classifications		rs_1334120731	2 SubmittersRCV001161820
NM_000553.6(WRN):c.210-8C>T	SNV Germline	Chr8:31064281	Conflicting classifications of pathogenicity	Werner syndrome	Criteria Provided Conflicting Classifications		rs_1812609160	2 SubmittersRCV001158489
NM_000553.6(WRN):c.3820-12A>G	SNV Germline	Chr8:31157356	Conflicting classifications of pathogenicity	Werner syndrome	Criteria Provided Conflicting Classifications		rs_374684032	2 SubmittersRCV001163445
NM_000553.6(WRN):c.305T>A (p.Leu102Ter)	SNV Germline	Chr8:31064384	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1812613241	1 SubmittersRCV001217677
NM_000553.6(WRN):c.944T>G (p.Leu315Ter)	SNV Germline	Chr8:31080971	Pathogenic/Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1813280584	2 SubmittersRCV001221003
NM_000553.6(WRN):c.979G>T (p.Gly327Ter)	SNV Germline	Chr8:31081006	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1813283817	1 SubmittersRCV001207861
NM_000553.6(WRN):c.1653-2A>T	SNV Germline	Chr8:31090463	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1434118877	1 SubmittersRCV001207577
NM_000553.6(WRN):c.504+1G>A	SNV Germline	Chr8:31065064	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1163988347	1 SubmittersRCV001216901
NM_000553.6(WRN):c.504+1G>T	SNV Germline	Chr8:31065064	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1163988347	1 SubmittersRCV001219214
NM_000553.6(WRN):c.1432-2A>T	SNV Germline	Chr8:31087774	Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1389423879	2 SubmittersRCV001224034
NM_000553.6(WRN):c.1720+5G>A	SNV Germline	Chr8:31090537	Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1813707238	2 SubmittersRCV001220501
NM_000553.6(WRN):c.2967+1G>A	SNV Germline	Chr8:31132507	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1474054365	1 SubmittersRCV001220614
NM_000553.6(WRN):c.3982+1G>T	SNV Germline	Chr8:31157531	Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1381370500	2 SubmittersRCV001224659
NM_000553.6(WRN):c.2678T>G (p.Leu893Ter)	SNV Germline	Chr8:31124569	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1801846606	1 SubmittersRCV001235164
NM_000553.6(WRN):c.4102G>A (p.Asp1368Asn)	SNV Germline	Chr8:31167141	Conflicting classifications of pathogenicity	Werner syndrome Ovarian cancer	Criteria Provided Conflicting Classifications		rs_1163698357	2 SubmittersRCV001233001 RCV003153954
NM_000553.6(WRN):c.356-2A>C	SNV Germline	Chr8:31064913	Pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_780068269	2 SubmittersRCV001227506
NM_000553.6(WRN):c.3819+1G>C	SNV Germline	Chr8:31154756	Conflicting classifications of pathogenicity	Werner syndrome	Criteria Provided Conflicting Classifications		rs_748618811	2 SubmittersRCV001237942
NM_000553.6(WRN):c.1822C>T (p.Gln608Ter)	SNV Germline	Chr8:31090935	Likely pathogenic	Werner syndrome	No Assertion Criteria Provided		rs_1813725009	1 SubmittersRCV001283784
NM_000553.6(WRN):c.58A>G (p.Asn20Asp)	SNV Germline	Chr8:31058505	Conflicting classifications of pathogenicity	Werner syndrome not specified	Criteria Provided Conflicting Classifications		rs_1233624462	2 SubmittersRCV001373798 RCV002246348
NM_000553.6(WRN):c.1350+1G>A	SNV Germline	Chr8:31083780	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_752202315	1 SubmittersRCV001379807
NM_000553.6(WRN):c.2089-1G>C	SNV Germline	Chr8:31111614	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_2130282582	1 SubmittersRCV001376916
NM_000553.6(WRN):c.2273+1G>A	SNV Germline	Chr8:31111800	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_2130284894	1 SubmittersRCV001377268
NM_000553.6(WRN):c.3309+1G>T	SNV Germline	Chr8:31142702	Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1281075870	2 SubmittersRCV001377929
NM_000553.6(WRN):c.3820-1G>A	SNV Germline	Chr8:31157367	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1803425342	1 SubmittersRCV001379139
NM_000553.6(WRN):c.655-1G>A	SNV Germline	Chr8:31068257	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_2130056280	1 SubmittersRCV001380057
NM_000553.6(WRN):c.724G>T (p.Glu242Ter)	SNV Germline	Chr8:31068327	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_769959338	1 SubmittersRCV001387927
NM_000553.6(WRN):c.754A>T (p.Lys252Ter)	SNV Germline	Chr8:31076202	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_751986285	1 SubmittersRCV001380326
NM_000553.6(WRN):c.1228C>T (p.Gln410Ter)	SNV Germline	Chr8:31081255	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1563339055	1 SubmittersRCV001381357
NM_000553.6(WRN):c.1726G>T (p.Gly576Ter)	SNV Germline	Chr8:31090839	Pathogenic	Werner syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1396973081	2 SubmittersRCV001383489 RCV003238365
NM_000553.6(WRN):c.1920C>G (p.Tyr640Ter)	SNV Germline	Chr8:31096789	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_765756226	1 SubmittersRCV001390198
NM_000553.6(WRN):c.2551G>T (p.Glu851Ter)	SNV Germline	Chr8:31120345	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1428459485	1 SubmittersRCV001388485
NM_000553.6(WRN):c.2855C>G (p.Ser952Ter)	SNV Germline	Chr8:31132394	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1441659798	1 SubmittersRCV001390620
NM_000553.6(WRN):c.2884C>T (p.Gln962Ter)	SNV Germline	Chr8:31132423	Pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1585502089	3 SubmittersRCV001386109
NM_000553.6(WRN):c.3150G>A (p.Trp1050Ter)	SNV Germline	Chr8:31141692	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_2130417119	1 SubmittersRCV001380493
NM_000553.6(WRN):c.3769C>T (p.Gln1257Ter)	SNV Germline	Chr8:31154705	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_2130470364	1 SubmittersRCV001390387
NM_000553.6(WRN):c.4197A>T (p.Ser1399=)	SNV Germline	Chr8:31173000	Conflicting classifications of pathogenicity	Werner syndrome not specified	Criteria Provided Conflicting Classifications		rs_1220777931	2 SubmittersRCV001494922 RCV001820198
NM_000553.6(WRN):c.3688-2A>G	SNV Germline	Chr8:31154622	Pathogenic/Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_2130469632	2 SubmittersRCV001785148
NM_000553.6(WRN):c.2826-1G>C	SNV Germline	Chr8:31132364	Likely pathogenic	Condition: not provided Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_756880457	2 SubmittersRCV001815970 RCV003505191
NM_000553.6(WRN):c.2548C>T (p.Gln850Ter)	SNV Germline	Chr8:31120342	Pathogenic/Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_2130322576	2 SubmittersRCV001917069
NM_000553.6(WRN):c.2448+1G>A	SNV Germline	Chr8:31116529	Pathogenic/Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_2130306367	2 SubmittersRCV001979697
NM_000553.6(WRN):c.3982+1G>C	SNV Germline	Chr8:31157531	Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1381370500	2 SubmittersRCV001993732
NM_000553.6(WRN):c.2733-1G>A	SNV Germline	Chr8:31124907	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_754056304	1 SubmittersRCV001991812
NM_000553.6(WRN):c.1096A>G (p.Lys366Glu)	SNV Germline	Chr8:31081123	Conflicting classifications of pathogenicity	Werner syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_2130119772	2 SubmittersRCV002050401 RCV003289413
NM_000553.6(WRN):c.254G>A (p.Trp85Ter)	SNV Germline	Chr8:31064333	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_2130032250	1 SubmittersRCV001864153
NM_000553.6(WRN):c.3460-1G>A	SNV Germline	Chr8:31147363	Pathogenic/Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1802899166	2 SubmittersRCV002028426
NM_000553.6(WRN):c.655-20A>G	SNV Germline	Chr8:31068238	Conflicting classifications of pathogenicity	Werner syndrome	Criteria Provided Conflicting Classifications		rs_1056118121	2 SubmittersRCV001894074
NM_000553.6(WRN):c.3572+1G>T	SNV Germline	Chr8:31147477	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_2130441377	1 SubmittersRCV001999136
NM_000553.6(WRN):c.1981+1G>C	SNV Germline	Chr8:31096851	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1814007969	1 SubmittersRCV001995260
NM_000553.6(WRN):c.3982+1G>A	SNV Germline	Chr8:31157531	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1381370500	1 SubmittersRCV002051051
NM_000553.6(WRN):c.1899-2A>T	SNV Germline	Chr8:31096766	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1175230246	1 SubmittersRCV002017288
NM_000553.6(WRN):c.2732+1G>A	SNV Germline	Chr8:31124624	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1047229701	1 SubmittersRCV002045323
NM_000553.6(WRN):c.3424C>T (p.Gln1142Ter)	SNV Germline	Chr8:31147093	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1454512341	1 SubmittersRCV001989867
NM_000553.6(WRN):c.255G>A (p.Trp85Ter)	SNV Germline	Chr8:31064334	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_2130032264	1 SubmittersRCV001993139
NM_000553.6(WRN):c.1629C>G (p.Tyr543Ter)	SNV Germline	Chr8:31088942	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_2130164025	1 SubmittersRCV001915051
NM_000553.6(WRN):c.2503C>T (p.Gln835Ter)	SNV Germline	Chr8:31120297	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_2130322156	1 SubmittersRCV001999967
NM_000553.6(WRN):c.1250T>C (p.Ile417Thr)	SNV Germline	Chr8:31081277	Conflicting classifications of pathogenicity	Werner syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1295448612	2 SubmittersRCV002022021 RCV004970696
NM_000553.6(WRN):c.3336T>G (p.Tyr1112Ter)	SNV Germline	Chr8:31143576	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1802745073	1 SubmittersRCV002035478
NM_000553.6(WRN):c.1462G>T (p.Glu488Ter)	SNV Germline	Chr8:31087806	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_2130155645	1 SubmittersRCV001873127
NM_000553.6(WRN):c.3234-2A>C	SNV Germline	Chr8:31142624	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1554533006	1 SubmittersRCV002013441
NM_000553.6(WRN):c.1231G>T (p.Glu411Ter)	SNV Germline	Chr8:31081258	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_2130121425	1 SubmittersRCV001941527
NM_000553.6(WRN):c.3384-1G>T	SNV Germline	Chr8:31147052	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_776963381	1 SubmittersRCV002005765
NM_000553.6(WRN):c.505-2A>G	SNV Germline	Chr8:31067031	Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_2130048793	2 SubmittersRCV002041449
NM_000553.6(WRN):c.571A>T (p.Lys191Ter)	SNV Germline	Chr8:31067099	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1812737120	1 SubmittersRCV001946810
NM_000553.6(WRN):c.3123C>A (p.Cys1041Ter)	SNV Germline	Chr8:31141585	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_773664315	1 SubmittersRCV001972390
NM_000553.6(WRN):c.31C>T (p.Gln11Ter)	SNV Germline	Chr8:31058478	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_2130000774	1 SubmittersRCV001889051
NM_000553.6(WRN):c.839+1G>A	SNV Germline	Chr8:31076288	Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_2130095451	2 SubmittersRCV001995026
NM_000553.6(WRN):c.1350+1G>T	SNV Germline	Chr8:31083780	Conflicting classifications of pathogenicity	Werner syndrome	Criteria Provided Conflicting Classifications		rs_752202315	2 SubmittersRCV002017054
NM_000553.6(WRN):c.3459+2T>G	SNV Germline	Chr8:31147130	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_2130439413	1 SubmittersRCV002050960
NM_000553.6(WRN):c.724G>C (p.Glu242Gln)	SNV Germline	Chr8:31068327	Conflicting classifications of pathogenicity	Werner syndrome	Criteria Provided Conflicting Classifications		rs_769959338	2 SubmittersRCV001906651
NM_000553.6(WRN):c.600G>A (p.Trp200Ter)	SNV Germline	Chr8:31067128	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_2130050166	1 SubmittersRCV001951486
NM_000553.6(WRN):c.830A>C (p.Asn277Thr)	SNV Germline	Chr8:31076278	Conflicting classifications of pathogenicity	Werner syndrome Ovarian cancer	Criteria Provided Conflicting Classifications		rs_749379604	2 SubmittersRCV001918375 RCV003154048
NM_000553.6(WRN):c.3175C>T (p.Gln1059Ter)	SNV Germline	Chr8:31141717	Pathogenic/Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1319491415	2 SubmittersRCV001981974
NM_000553.6(WRN):c.3234-1G>A	SNV Germline	Chr8:31142625	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_866300270	1 SubmittersRCV002029527
NM_000553.6(WRN):c.985C>T (p.Gln329Ter)	SNV Germline	Chr8:31081012	Pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1813285283	1 SubmittersRCV001949637
NM_000553.6(WRN):c.2630+1G>A	SNV Germline	Chr8:31120425	Pathogenic/Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1279240593	2 SubmittersRCV002029182
NM_000553.6(WRN):c.1653-2A>G	SNV Germline	Chr8:31090463	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1434118877	1 SubmittersRCV001978207
NM_000553.6(WRN):c.840-1G>C	SNV Germline	Chr8:31080866	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_1395775047	1 SubmittersRCV001981161
NM_000553.6(WRN):c.3460-2A>G	SNV Germline	Chr8:31147362	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter		rs_281865159	1 SubmittersRCV002012480
NM_000553.6(WRN):c.96+1G>T	SNV Germline	Chr8:31058544	Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002282834
NM_000553.6(WRN):c.3384-2A>G	SNV Germline	Chr8:31147051	Pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003058675
NM_000553.6(WRN):c.3459+1G>A	SNV Germline	Chr8:31147129	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003088430
NM_000553.6(WRN):c.994C>T (p.Gln332Ter)	SNV Germline	Chr8:31081021	Pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002592193
NM_000553.6(WRN):c.1981+1G>A	SNV Germline	Chr8:31096851	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002584283
NM_000553.6(WRN):c.1720+1G>T	SNV Germline	Chr8:31090533	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002695936
NM_000553.6(WRN):c.2088+1G>T	SNV Germline	Chr8:31100956	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002715017
NM_000553.6(WRN):c.96+1G>A	SNV Germline	Chr8:31058544	Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002800690
NM_000553.6(WRN):c.725-2A>G	SNV Germline	Chr8:31076171	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002856995
NM_000553.6(WRN):c.238G>T (p.Gly80Ter)	SNV Germline	Chr8:31064317	Pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002875559
NM_000553.6(WRN):c.3685C>T (p.Gln1229Ter)	SNV Germline	Chr8:31150453	Pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002867686
NM_000553.6(WRN):c.1720G>A (p.Gly574Arg)	SNV Germline	Chr8:31090532	Pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002917601
NM_000553.6(WRN):c.2581C>T (p.Gln861Ter)	SNV Germline	Chr8:31120375	Pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002975800
NM_000553.6(WRN):c.2153T>G (p.Leu718Ter)	SNV Germline	Chr8:31111679	Pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002994633
NM_000553.6(WRN):c.111G>C (p.Lys37Asn)	SNV Germline	Chr8:31059167	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003011812
NM_000553.6(WRN):c.724+515A>G	SNV Germline	Chr8:31068842	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002994345
NM_000553.6(WRN):c.1003G>T (p.Glu335Ter)	SNV Germline	Chr8:31081030	Pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003023162
NM_000553.6(WRN):c.1576+1G>A	SNV Germline	Chr8:31087921	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003030975
NM_000553.6(WRN):c.3044G>A (p.Trp1015Ter)	SNV Germline	Chr8:31141506	Pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003031205
NM_000553.6(WRN):c.724+513A>G	SNV Germline	Chr8:31068840	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003015037
NM_000553.6(WRN):c.1173T>A (p.Cys391Ter)	SNV Germline	Chr8:31081200	Pathogenic/Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003043813
NM_000553.6(WRN):c.1721-1G>A	SNV Germline	Chr8:31090833	Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003054976
NM_000553.6(WRN):c.1350+1G>C	SNV Germline	Chr8:31083780	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003036251
NM_000553.6(WRN):c.1219C>T (p.Gln407Ter)	SNV Germline	Chr8:31081246	Pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003054122
NM_000553.6(WRN):c.221C>G (p.Ser74Ter)	SNV Germline	Chr8:31064300	Pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003057210
NM_000553.6(WRN):c.434G>A (p.Trp145Ter)	SNV Germline	Chr8:31064993	Pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003064157
NM_000553.6(WRN):c.654+2T>C	SNV Germline	Chr8:31067184	Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003123402
NM_000553.6(WRN):c.1576+1G>T	SNV Unknown	Chr8:31087921	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003464861
NM_000553.6(WRN):c.464T>A (p.Leu155Ter)	SNV Germline	Chr8:31065023	Pathogenic/Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003466538
NM_000553.6(WRN):c.599G>A (p.Trp200Ter)	SNV Unknown	Chr8:31067127	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003466541
NM_000553.6(WRN):c.554T>A (p.Leu185Ter)	SNV Unknown	Chr8:31067082	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003466542
NM_000553.6(WRN):c.3190C>T (p.Gln1064Ter)	SNV Unknown	Chr8:31141732	Pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003464866
NM_000553.6(WRN):c.4111A>T (p.Lys1371Ter)	SNV Germline	Chr8:31167150	Pathogenic/Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003464867
NM_000553.6(WRN):c.1908C>G (p.Tyr636Ter)	SNV Unknown	Chr8:31096777	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003464868
NM_000553.6(WRN):c.1871C>A (p.Ser624Ter)	SNV Unknown	Chr8:31091871	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003466543
NM_000553.6(WRN):c.4117A>T (p.Arg1373Ter)	SNV Unknown	Chr8:31167156	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003466544
NM_000553.6(WRN):c.2731C>T (p.Gln911Ter)	SNV Unknown	Chr8:31124622	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003466545
NM_000553.6(WRN):c.2624T>G (p.Leu875Ter)	SNV Unknown	Chr8:31120418	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003466546
NM_000553.6(WRN):c.1432-2A>G	SNV Unknown	Chr8:31087774	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003464869
NM_000553.6(WRN):c.3383+1G>A	SNV Unknown	Chr8:31143624	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003464870
NM_000553.6(WRN):c.1372G>T (p.Glu458Ter)	SNV Unknown	Chr8:31085187	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003464872
NM_000553.6(WRN):c.356-2A>G	SNV Unknown	Chr8:31064913	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003464873
NM_000553.6(WRN):c.840-2A>T	SNV Unknown	Chr8:31080865	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003466548
NM_000553.6(WRN):c.3670C>T (p.Gln1224Ter)	SNV Unknown	Chr8:31150438	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003466549
NM_000553.6(WRN):c.968C>G (p.Ser323Ter)	SNV Unknown	Chr8:31080995	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003464876
NM_000553.6(WRN):c.1519G>T (p.Glu507Ter)	SNV Unknown	Chr8:31087863	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003466553
NM_000553.6(WRN):c.2290G>T (p.Glu764Ter)	SNV Unknown	Chr8:31116370	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003466554
NM_000553.6(WRN):c.3233+2T>C	SNV Unknown	Chr8:31141777	Pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003464878
NM_000553.6(WRN):c.1873G>T (p.Glu625Ter)	SNV Germline	Chr8:31091873	Pathogenic/Likely pathogenic	Werner syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003464879
NM_000553.6(WRN):c.1657C>T (p.Gln553Ter)	SNV Unknown	Chr8:31090469	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003464880
NM_000553.6(WRN):c.1484T>G (p.Leu495Ter)	SNV Germline	Chr8:31087828	Pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003486526
NM_000553.6(WRN):c.109A>T (p.Lys37Ter)	SNV Germline	Chr8:31059165	Pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003506147
NM_000553.6(WRN):c.2023G>T (p.Glu675Ter)	SNV Germline	Chr8:31100890	Pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003506343
NM_000553.6(WRN):c.1587G>A (p.Trp529Ter)	SNV Germline	Chr8:31088900	Pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003506400
NM_000553.6(WRN):c.3041G>A (p.Trp1014Ter)	SNV Germline	Chr8:31141503	Pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003506522
NM_000553.6(WRN):c.3572+2T>C	SNV Germline	Chr8:31147478	Pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003504822
NM_000553.6(WRN):c.2151C>A (p.Cys717Ter)	SNV Germline	Chr8:31111677	Pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003504980
NM_000553.6(WRN):c.767C>G (p.Ser256Ter)	SNV Germline	Chr8:31076215	Pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003505043
NM_000553.6(WRN):c.3442C>T (p.Gln1148Ter)	SNV Germline	Chr8:31147111	Pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003505627
NM_000553.6(WRN):c.3687+2T>C	SNV Germline	Chr8:31150457	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003614343
NM_000553.6(WRN):c.3460-1G>C	SNV Germline	Chr8:31147363	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003613678
NM_000553.6(WRN):c.3451G>T (p.Glu1151Ter)	SNV Germline	Chr8:31147120	Pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003613536
NM_000553.6(WRN):c.2310C>A (p.Tyr770Ter)	SNV Germline	Chr8:31116390	Pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003613702
NM_000553.6(WRN):c.505-1G>A	SNV Germline	Chr8:31067032	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003613840
NM_000553.6(WRN):c.1829+2T>C	SNV Germline	Chr8:31090944	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003614761
NM_000553.6(WRN):c.856A>T (p.Lys286Ter)	SNV Germline	Chr8:31080883	Pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003614626
NM_000553.6(WRN):c.2273+2T>C	SNV Germline	Chr8:31111801	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003614737
NM_000553.6(WRN):c.3309+2T>G	SNV Germline	Chr8:31142703	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003614937
NM_000553.6(WRN):c.3897C>A (p.Cys1299Ter)	SNV Germline	Chr8:31157445	Pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003615057
NM_000553.6(WRN):c.2968-1G>C	SNV Germline	Chr8:31141429	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003615092
NM_000553.6(WRN):c.725-1G>C	SNV Germline	Chr8:31076172	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003615099
NM_000553.6(WRN):c.725-1G>A	SNV Germline	Chr8:31076172	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003615310
NM_000553.6(WRN):c.1577-2A>G	SNV Germline	Chr8:31088888	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003615266
NM_000553.6(WRN):c.1720+1G>C	SNV Germline	Chr8:31090533	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003990518
NM_000553.6(WRN):c.34C>T (p.Gln12Ter)	SNV Unknown	Chr8:31058481	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004573860
NM_000553.6(WRN):c.3983-2A>G	SNV Unknown	Chr8:31167020	Likely pathogenic	Werner syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004573868

NM_000553.6(WRN):c.3913C>T (p.Arg1305Ter)

SNV
Germline

Chr8:31157461

Pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA253482

rs_121908446

6 SubmittersRCV000005777

NM_000553.6(WRN):c.3493C>T (p.Gln1165Ter)

SNV
Germline

Chr8:31147397

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

CA253485

rs_121908447

2 SubmittersRCV000005778

NM_000553.6(WRN):c.3139-1G>C

SNV
Germline

Chr8:31141680

Pathogenic

Werner syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA284838

rs_113993961

6 SubmittersRCV000005780 RCV000058932

NM_000553.6(WRN):c.1105C>T (p.Arg369Ter)

SNV
Germline

Chr8:31081132

Pathogenic/Likely pathogenic

Werner syndrome
Medulloblastoma
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340413

rs_17847577

12 SubmittersRCV000005782 RCV000722025 RCV001546857

NM_000553.6(WRN):c.3686A>T (p.Gln1229Leu)

SNV
Germline

Chr8:31150454

Pathogenic

Werner syndrome

No Assertion Criteria Provided

CA253490

rs_369158322

1 SubmittersRCV000005783

NM_000553.6(WRN):c.1730A>T (p.Lys577Met)

SNV
Germline

Chr8:31090843

Pathogenic

Werner syndrome

No Assertion Criteria Provided

CA253493

rs_121908448

1 SubmittersRCV000005785

NM_000553.6(WRN):c.2089-3024A>G

SNV
Germline

Chr8:31108591

Pathogenic/Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA343148

rs_281865157

3 SubmittersRCV000032135

NM_000553.6(WRN):c.1530A>T (p.Glu510Asp)

SNV
Germline

Chr8:31087874

Conflicting classifications of pathogenicity

not specified
Werner syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA162695

rs_149565907

5 SubmittersRCV000122272 RCV000226111 RCV003237732

NM_000553.6(WRN):c.1835C>G (p.Ser612Cys)

SNV
Germline

Chr8:31091835

Conflicting classifications of pathogenicity

not specified
Werner syndrome

Criteria Provided
Conflicting Classifications

CA162704

rs_11574250

3 SubmittersRCV000122275 RCV000552831

NM_000553.6(WRN):c.1909C>T (p.Arg637Trp)

SNV
Germline

Chr8:31096778

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Werner syndrome
WRN-related disorder

Criteria Provided
Conflicting Classifications

CA162710

rs_148286708

7 SubmittersRCV000122277 RCV000725735 RCV001080213 RCV003398738

NM_000553.6(WRN):c.95A>G (p.Lys32Arg)

SNV
Germline

Chr8:31058542

Conflicting classifications of pathogenicity

not specified
Werner syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA162716

rs_34477820

10 SubmittersRCV000122279 RCV000344080 RCV000857870

NM_000553.6(WRN):c.2937T>G (p.Ile979Met)

SNV
Germline

Chr8:31132476

Conflicting classifications of pathogenicity

not specified
Werner syndrome
Wiskott-Aldrich syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA162722

rs_147802438

6 SubmittersRCV000122281 RCV000233425 RCV003315783 RCV004721269

NM_000553.6(WRN):c.2978G>A (p.Arg993His)

SNV
Germline

Chr8:31141440

Conflicting classifications of pathogenicity

not specified
Werner syndrome
Condition: not provided
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA162731

rs_370713742

6 SubmittersRCV000122284 RCV000456321 RCV001579799 RCV003153404

NM_000553.6(WRN):c.2983G>A (p.Ala995Thr)

SNV
Germline

Chr8:31141445

Conflicting classifications of pathogenicity

not specified
Werner syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA162734

rs_140768346

8 SubmittersRCV000122285 RCV000227936 RCV000857886 RCV004019696

NM_000553.6(WRN):c.2986G>A (p.Asp996Asn)

SNV
Germline

Chr8:31141448

Conflicting classifications of pathogenicity

not specified
Werner syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA162737

rs_138379977

8 SubmittersRCV000122286 RCV000230775 RCV000726887

NM_000553.6(WRN):c.3422C>T (p.Ser1141Leu)

SNV
Germline

Chr8:31147091

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Werner syndrome
WRN-related disorder

Criteria Provided
Conflicting Classifications

CA162743

rs_139323683

6 SubmittersRCV000122288 RCV000724001 RCV001083827 RCV003915221

NM_000553.6(WRN):c.107G>A (p.Arg36Gln)

SNV
Germline

Chr8:31059163

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Werner syndrome
Wiskott-Aldrich syndrome
WRN-related disorder

Criteria Provided
Conflicting Classifications

CA162746

rs_34084741

6 SubmittersRCV000122289 RCV000733018 RCV001085837 RCV003315785 RCV003925216

NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg)

SNV
Germline

Chr8:31154721

Conflicting classifications of pathogenicity

not specified
Werner syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA162758

rs_78488552

11 SubmittersRCV000122293 RCV000231281 RCV000858031

NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr)

SNV
Germline

Chr8:31157423

Conflicting classifications of pathogenicity

not specified
Werner syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA162761

rs_142614369

11 SubmittersRCV000122294 RCV000228973 RCV000727484

NM_000553.6(WRN):c.4127C>T (p.Pro1376Leu)

SNV
Germline

Chr8:31167166

Conflicting classifications of pathogenicity

not specified
Werner syndrome

Criteria Provided
Conflicting Classifications

CA162767

rs_146055899

3 SubmittersRCV000122296 RCV000547973

NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter)

SNV
Germline

Chr8:31173019

Conflicting classifications of pathogenicity

not specified
Werner syndrome
Condition: not provided
Wiskott-Aldrich syndrome

Criteria Provided
Conflicting Classifications

CA162779

rs_11574410

10 SubmittersRCV000122300 RCV000988046 RCV001785472 RCV003315787

NM_000553.6(WRN):c.514A>C (p.Thr172Pro)

SNV
Germline

Chr8:31067042

Conflicting classifications of pathogenicity

not specified
Werner syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA162785

rs_367991517

4 SubmittersRCV000122302 RCV000464655 RCV001753506

NM_000553.6(WRN):c.720T>G (p.Asn240Lys)

SNV
Germline

Chr8:31068323

Conflicting classifications of pathogenicity

not specified
Werner syndrome
WRN-related disorder

Criteria Provided
Conflicting Classifications

CA162794

rs_148229804

5 SubmittersRCV000122305 RCV000533817 RCV003935170

NM_000553.6(WRN):c.968C>T (p.Ser323Leu)

SNV
Germline

Chr8:31080995

Conflicting classifications of pathogenicity

not specified
Werner syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA162803

rs_369277330

3 SubmittersRCV000122308 RCV000470767 RCV002469016

NM_000553.6(WRN):c.1149G>T (p.Leu383Phe)

SNV
Germline

Chr8:31081176

Conflicting classifications of pathogenicity

not specified
Werner syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA162806

rs_4987238

8 SubmittersRCV000122309 RCV000228291 RCV000857885 RCV002515905

NM_000553.6(WRN):c.1992C>T (p.Leu664=)

SNV
Germline

Chr8:31100859

Conflicting classifications of pathogenicity

Condition: not provided
Werner syndrome

Criteria Provided
Conflicting Classifications

CA240995

rs_794727200

2 SubmittersRCV000175276 RCV001088323

NM_000553.6(WRN):c.561A>G (p.Lys187=)

SNV
Germline

Chr8:31067089

Pathogenic/Likely pathogenic

Condition: not provided
Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA275342

rs_775802030

4 SubmittersRCV000179333 RCV001095680

NM_000553.6(WRN):c.16T>C (p.Leu6=)

SNV
Germline

Chr8:31058463

Conflicting classifications of pathogenicity

Werner syndrome

Criteria Provided
Conflicting Classifications

CA4703956

rs_202148988

2 SubmittersRCV000229850

NM_000553.6(WRN):c.355+4G>C

SNV
Germline

Chr8:31064438

Conflicting classifications of pathogenicity

Werner syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4704039

rs_145764920

8 SubmittersRCV000233017 RCV000597305 RCV001818577

NM_000553.6(WRN):c.1717A>G (p.Thr573Ala)

SNV
Germline

Chr8:31090529

Conflicting classifications of pathogenicity

Werner syndrome
WRN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4704456

rs_150148567

7 SubmittersRCV000227669 RCV003919923 RCV000858340

NM_000553.6(WRN):c.2067C>T (p.Ser689=)

SNV
Germline

Chr8:31100934

Conflicting classifications of pathogenicity

Condition: not provided
Werner syndrome
WRN-related disorder

Criteria Provided
Conflicting Classifications

CA4704609

rs_191757062

3 SubmittersRCV000596682 RCV001081277 RCV003955314

NM_000553.6(WRN):c.2131C>T (p.Arg711Trp)

SNV
Germline

Chr8:31111657

Conflicting classifications of pathogenicity

Werner syndrome
not specified
Condition: not provided
WRN-related disorder

Criteria Provided
Conflicting Classifications

CA4704654

rs_34560788

4 SubmittersRCV000228524 RCV001818575 RCV003237788 RCV003967619

NM_000553.6(WRN):c.2342C>T (p.Thr781Ile)

SNV
Germline

Chr8:31116422

Conflicting classifications of pathogenicity

Werner syndrome
Ovarian cancer
WRN-related disorder

Criteria Provided
Conflicting Classifications

CA4704724

rs_17847568

4 SubmittersRCV000229198 RCV003153528 RCV003967620

NM_000553.6(WRN):c.2735T>G (p.Ile912Ser)

SNV
Germline

Chr8:31124910

Conflicting classifications of pathogenicity

Werner syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4704842

rs_11574323

6 SubmittersRCV000229443 RCV001357192

NM_000553.6(WRN):c.3139-9T>C

SNV
Germline

Chr8:31141672

Conflicting classifications of pathogenicity

Werner syndrome

Criteria Provided
Conflicting Classifications

CA4704951

rs_377226126

2 SubmittersRCV000231433

NM_000553.6(WRN):c.3259A>G (p.Lys1087Glu)

SNV
Germline

Chr8:31142651

Conflicting classifications of pathogenicity

Werner syndrome
WRN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4704995

rs_374154973

6 SubmittersRCV000232120 RCV003919924 RCV001356218

NM_000553.6(WRN):c.3417T>C (p.Ser1139=)

SNV
Germline

Chr8:31147086

Conflicting classifications of pathogenicity

Werner syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4705056

rs_752542644

3 SubmittersRCV000226632 RCV003437017

NM_000553.6(WRN):c.3453G>A (p.Glu1151=)

SNV
Germline

Chr8:31147122

Conflicting classifications of pathogenicity

Condition: not provided
Werner syndrome
not specified

Criteria Provided
Conflicting Classifications

CA4705062

rs_144116311

7 SubmittersRCV000393449 RCV001083791 RCV001818576

NM_000553.6(WRN):c.3738G>A (p.Leu1246=)

SNV
Germline

Chr8:31154674

Conflicting classifications of pathogenicity

Werner syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4705168

rs_147117969

5 SubmittersRCV000232559 RCV001579969

NM_000553.6(WRN):c.747C>T (p.Asp249=)

SNV
Germline

Chr8:31076195

Conflicting classifications of pathogenicity

Condition: not provided
Werner syndrome

Criteria Provided
Conflicting Classifications

CA10606655

rs_374142752

2 SubmittersRCV000263920 RCV000542155

NM_000553.6(WRN):c.4035G>A (p.Thr1345=)

SNV
Germline

Chr8:31167074

Conflicting classifications of pathogenicity

Condition: not provided
Werner syndrome

Criteria Provided
Conflicting Classifications

CA4705250

rs_767115441

2 SubmittersRCV000276259 RCV001087786

NM_000553.6(WRN):c.4180A>G (p.Ile1394Val)

SNV
Germline

Chr8:31167219

Conflicting classifications of pathogenicity

Werner syndrome

Criteria Provided
Conflicting Classifications

CA4705275

rs_545431480

2 SubmittersRCV000332436

NM_000553.6(WRN):c.1981+11A>G

SNV
Germline

Chr8:31096861

Conflicting classifications of pathogenicity

Werner syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4704578

rs_189999761

3 SubmittersRCV000351456 RCV003237831

NM_000553.6(WRN):c.2088+6C>T

SNV
Germline

Chr8:31100961

Conflicting classifications of pathogenicity

Werner syndrome
WRN-related disorder

Criteria Provided
Conflicting Classifications

CA10627641

rs_886062888

3 SubmittersRCV000297853 RCV003897808

NM_000553.6(WRN):c.3078A>G (p.Gly1026=)

SNV
Germline

Chr8:31141540

Conflicting classifications of pathogenicity

Werner syndrome

Criteria Provided
Conflicting Classifications

CA10627656

rs_886062892

2 SubmittersRCV000275448

NM_000553.6(WRN):c.2128A>G (p.Ile710Val)

SNV
Germline

Chr8:31111654

Conflicting classifications of pathogenicity

Werner syndrome
Ovarian cancer
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4704653

rs_180814740

4 SubmittersRCV000338817 RCV003153566 RCV003168567

NM_000553.6(WRN):c.2959C>T (p.Arg987Ter)

SNV
Germline

Chr8:31132498

Pathogenic/Likely pathogenic

Werner syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4704889

rs_747319628

4 SubmittersRCV000269754 RCV003884511

NM_000553.6(WRN):c.3819+14T>C

SNV
Germline

Chr8:31154769

Conflicting classifications of pathogenicity

Werner syndrome

Criteria Provided
Conflicting Classifications

CA10630898

rs_886062894

2 SubmittersRCV000362535

NM_000553.6(WRN):c.3972C>T (p.Pro1324=)

SNV
Germline

Chr8:31157520

Conflicting classifications of pathogenicity

Werner syndrome

Criteria Provided
Conflicting Classifications

CA4705216

rs_370253199

2 SubmittersRCV000309215

NM_000553.6(WRN):c.1898+2T>G

SNV
Germline

Chr8:31091900

Conflicting classifications of pathogenicity

Werner syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4704521

rs_772319506

4 SubmittersRCV000471062 RCV004597802

NM_000553.6(WRN):c.2665C>T (p.Arg889Ter)

SNV
Germline

Chr8:31124556

Pathogenic

Werner syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4704812

rs_774765029

6 SubmittersRCV000456191 RCV001580038

NM_000553.6(WRN):c.3059G>A (p.Arg1020His)

SNV
Germline

Chr8:31141521

Conflicting classifications of pathogenicity

Werner syndrome
WRN-related disorder

Criteria Provided
Conflicting Classifications

CA4704927

rs_115298665

3 SubmittersRCV000468223 RCV003972753

NM_000553.6(WRN):c.3383+5A>C

SNV
Germline

Chr8:31143628

Conflicting classifications of pathogenicity

Werner syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4705030

rs_374867947

2 SubmittersRCV000465573 RCV000594507

NM_000553.6(WRN):c.3900C>A (p.Pro1300=)

SNV
Germline

Chr8:31157448

Conflicting classifications of pathogenicity

Werner syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4705204

rs_138886038

6 SubmittersRCV000475640 RCV000502949 RCV001579420

NM_000553.6(WRN):c.130C>G (p.Leu44Val)

SNV
Germline

Chr8:31059186

Conflicting classifications of pathogenicity

Werner syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4703988

rs_139775895

4 SubmittersRCV000470096 RCV001591059

NM_000553.6(WRN):c.1181C>T (p.Ser394Leu)

SNV
Germline

Chr8:31081208

Conflicting classifications of pathogenicity

Werner syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4704263

rs_200487813

3 SubmittersRCV000464118 RCV002510900

NM_000553.6(WRN):c.2784A>G (p.Gly928=)

SNV
Germline

Chr8:31124959

Conflicting classifications of pathogenicity

Condition: not provided
Werner syndrome

Criteria Provided
Conflicting Classifications

CA4704849

rs_755729832

2 SubmittersRCV000730682 RCV001409017

NM_000553.6(WRN):c.2985C>T (p.Ala995=)

SNV
Germline

Chr8:31141447

Conflicting classifications of pathogenicity

Werner syndrome

Criteria Provided
Conflicting Classifications

CA4704914

rs_150095039

2 SubmittersRCV000469843

NM_000553.6(WRN):c.3893G>T (p.Gly1298Val)

SNV
Germline

Chr8:31157441

Conflicting classifications of pathogenicity

Werner syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA4705201

rs_202129203

4 SubmittersRCV000462991 RCV003153572

NM_000553.6(WRN):c.673C>T (p.Arg225Ter)

SNV
Germline

Chr8:31068276

Pathogenic/Likely pathogenic

Werner syndrome
WRN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA4704137

rs_370324188

4 SubmittersRCV000473494 RCV003418150

NM_000553.6(WRN):c.1350+3A>G

SNV
Germline

Chr8:31083782

Conflicting classifications of pathogenicity

Werner syndrome
WRN-related disorder

Criteria Provided
Conflicting Classifications

CA4704315

rs_182813211

2 SubmittersRCV000465749 RCV003392287

NM_000553.6(WRN):c.1382C>T (p.Thr461Met)

SNV
Germline

Chr8:31085197

Conflicting classifications of pathogenicity

Werner syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA4704342

rs_371602600

3 SubmittersRCV000456237 RCV003153573

NM_000553.6(WRN):c.3162T>C (p.Ala1054=)

SNV
Germline

Chr8:31141704

Conflicting classifications of pathogenicity

Werner syndrome

Criteria Provided
Conflicting Classifications

CA4704953

rs_111426441

2 SubmittersRCV000469169

NM_000553.6(WRN):c.327T>A (p.Cys109Ter)

SNV
Germline

Chr8:31064406

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

CA370914384

rs_371538747

1 SubmittersRCV000538668

NM_000553.6(WRN):c.2119A>G (p.Ser707Gly)

SNV
Germline

Chr8:31111645

Conflicting classifications of pathogenicity

Werner syndrome
not specified

Criteria Provided
Conflicting Classifications

CA4704651

rs_761240520

2 SubmittersRCV000551629 RCV004767337

NM_000553.6(WRN):c.1378G>A (p.Asp460Asn)

SNV
Germline

Chr8:31085193

Conflicting classifications of pathogenicity

Werner syndrome
Wiskott-Aldrich syndrome
WRN-related disorder

Criteria Provided
Conflicting Classifications

CA4704341

rs_556958354

4 SubmittersRCV000551303 RCV003316686 RCV003942745

NM_000553.6(WRN):c.172G>A (p.Asp58Asn)

SNV
Germline

Chr8:31059228

Conflicting classifications of pathogenicity

Werner syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA4703996

rs_773803207

2 SubmittersRCV000538283 RCV003153686

NM_000553.6(WRN):c.210-1G>A

SNV
Germline

Chr8:31064288

Pathogenic/Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA4704015

rs_758988621

2 SubmittersRCV000537557

NM_000553.6(WRN):c.3384-1G>A

SNV
Germline

Chr8:31147052

Pathogenic/Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA4705050

rs_776963381

3 SubmittersRCV000548461

NM_000553.6(WRN):c.3801A>G (p.Gln1267=)

SNV
Germline

Chr8:31154737

Conflicting classifications of pathogenicity

Werner syndrome
WRN-related disorder

Criteria Provided
Conflicting Classifications

CA4705178

rs_779902531

2 SubmittersRCV000542580 RCV003403263

NM_000553.6(WRN):c.3881C>T (p.Ala1294Val)

SNV
Germline

Chr8:31157429

Conflicting classifications of pathogenicity

Werner syndrome

Criteria Provided
Conflicting Classifications

CA4705198

rs_146861737

2 SubmittersRCV000546368

NM_000553.6(WRN):c.1302G>A (p.Thr434=)

SNV
Germline

Chr8:31083731

Conflicting classifications of pathogenicity

Werner syndrome
WRN-related disorder

Criteria Provided
Conflicting Classifications

CA4704307

rs_374140086

3 SubmittersRCV000558517 RCV003942744

NM_000553.6(WRN):c.1879G>A (p.Val627Ile)

SNV
Germline

Chr8:31091879

Conflicting classifications of pathogenicity

Werner syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4704517

rs_374688634

2 SubmittersRCV000531246 RCV000598531

NM_000553.6(WRN):c.724+1G>T

SNV
Germline

Chr8:31068328

Pathogenic/Likely pathogenic

6 conditions
Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA370917217

rs_1339616347

2 SubmittersRCV000626713 RCV001197400

NM_000553.6(WRN):c.3778G>A (p.Ala1260Thr)

SNV
Germline

Chr8:31154714

Conflicting classifications of pathogenicity

Werner syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA4705173

rs_201107091

4 SubmittersRCV000633207 RCV003153773

NM_000553.6(WRN):c.3582G>A (p.Thr1194=)

SNV
Germline

Chr8:31150350

Conflicting classifications of pathogenicity

Werner syndrome

Criteria Provided
Conflicting Classifications

CA4705123

rs_762685242

2 SubmittersRCV000633285

NM_000553.6(WRN):c.835C>T (p.Arg279Trp)

SNV
Germline

Chr8:31076283

Conflicting classifications of pathogenicity

Werner syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4704170

rs_199923241

5 SubmittersRCV000633192 RCV004025425

NM_000553.6(WRN):c.1652+1G>A

SNV
Germline

Chr8:31088966

Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA174864405

rs_777096501

2 SubmittersRCV000633232

NM_000553.6(WRN):c.2332C>T (p.Gln778Ter)

SNV
Germline

Chr8:31116412

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

CA370913548

rs_1554527775

1 SubmittersRCV000633241

NM_000553.6(WRN):c.2338G>A (p.Val780Ile)

SNV
Germline

Chr8:31116418

Conflicting classifications of pathogenicity

Condition: not provided
Werner syndrome

Criteria Provided
Conflicting Classifications

CA4704723

rs_574787451

5 SubmittersRCV001572660 RCV001163334

NM_000553.6(WRN):c.2194C>T (p.Arg732Ter)

SNV
Germline

Chr8:31111720

Pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA4704667

rs_143916053

2 SubmittersRCV000633216

NM_000553.6(WRN):c.2221C>T (p.Arg741Ter)

SNV
Germline

Chr8:31111747

Pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA4704672

rs_763089663

2 SubmittersRCV000633177

NM_000553.6(WRN):c.2604G>A (p.Trp868Ter)

SNV
Germline

Chr8:31120398

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

CA370915746

rs_1554528411

1 SubmittersRCV000633217

NM_000553.6(WRN):c.88G>T (p.Glu30Ter)

SNV
Germline

Chr8:31058535

Pathogenic/Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1198210848

2 SubmittersRCV000689923

NM_000553.6(WRN):c.2994T>A (p.Tyr998Ter)

SNV
Germline

Chr8:31141456

Pathogenic/Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1563376347

2 SubmittersRCV000706164

NM_000553.6(WRN):c.3102T>G (p.Tyr1034Ter)

SNV
Germline

Chr8:31141564

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1563376526

1 SubmittersRCV000687948

NM_000553.6(WRN):c.201A>G (p.Glu67=)

SNV
Germline

Chr8:31059257

Conflicting classifications of pathogenicity

Werner syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_764589321

2 SubmittersRCV000699639 RCV001771982

NM_000553.6(WRN):c.1145A>G (p.Lys382Arg)

SNV
Germline

Chr8:31081172

Conflicting classifications of pathogenicity

Werner syndrome
Inborn genetic diseases
Ovarian cancer

Criteria Provided
Conflicting Classifications

rs_541455377

3 SubmittersRCV000696122 RCV002532345 RCV003153809

NM_000553.6(WRN):c.1351-2A>G

SNV
Germline

Chr8:31085164

Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1563341296

2 SubmittersRCV000705137

NM_000553.6(WRN):c.209+5G>A

SNV
Germline

Chr8:31059270

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_754208761

1 SubmittersRCV000698561

NM_000553.6(WRN):c.554T>G (p.Leu185Ter)

SNV
Germline

Chr8:31067082

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1563331288

1 SubmittersRCV000700194

NM_000553.6(WRN):c.1744C>T (p.Gln582Ter)

SNV
Germline

Chr8:31090857

Pathogenic/Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_757808169

2 SubmittersRCV000689198

NM_000553.6(WRN):c.2170C>T (p.Gln724Ter)

SNV
Germline

Chr8:31111696

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1563357741

1 SubmittersRCV000691593

NM_000553.6(WRN):c.3961C>T (p.Arg1321Ter)

SNV
Germline

Chr8:31157509

Pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1303126572

2 SubmittersRCV000701196

NM_000553.6(WRN):c.1111G>T (p.Glu371Ter)

SNV
Germline

Chr8:31081138

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1563338837

1 SubmittersRCV000703720

NM_000553.6(WRN):c.3233+1G>C

SNV
Germline

Chr8:31141776

Pathogenic/Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1563376793

2 SubmittersRCV000705760

NM_000553.6(WRN):c.3309+1G>A

SNV
Germline

Chr8:31142702

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1281075870

1 SubmittersRCV000685191

NM_000553.6(WRN):c.1982-2A>G

SNV
Germline

Chr8:31100847

Conflicting classifications of pathogenicity

Werner syndrome

Criteria Provided
Conflicting Classifications

rs_1563351045

2 SubmittersRCV000778858

NM_000553.6(WRN):c.171C>G (p.Tyr57Ter)

SNV
Germline

Chr8:31059227

Pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_373806031

2 SubmittersRCV000808852

NM_000553.6(WRN):c.961G>T (p.Glu321Ter)

SNV
Germline

Chr8:31080988

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_779012596

1 SubmittersRCV000794563

NM_000553.6(WRN):c.1908C>A (p.Tyr636Ter)

SNV
Germline

Chr8:31096777

Pathogenic/Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1585449207

2 SubmittersRCV000812821

NM_000553.6(WRN):c.2028G>A (p.Trp676Ter)

SNV
Germline

Chr8:31100895

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1585455586

1 SubmittersRCV000814029

NM_000553.6(WRN):c.2350C>T (p.Leu784Phe)

SNV
Germline

Chr8:31116430

Conflicting classifications of pathogenicity

Werner syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

rs_1585478310

2 SubmittersRCV000819480 RCV003153863

NM_000553.6(WRN):c.2544T>A (p.Tyr848Ter)

SNV
Germline

Chr8:31120338

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1585483312

1 SubmittersRCV000809844

NM_000553.6(WRN):c.3042G>A (p.Trp1014Ter)

SNV
Germline

Chr8:31141504

Pathogenic/Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_371720457

2 SubmittersRCV000822792

NM_000553.6(WRN):c.3394C>T (p.Gln1132Ter)

SNV
Germline

Chr8:31147063

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1585521874

1 SubmittersRCV000821568

NM_000553.6(WRN):c.3937C>T (p.Gln1313Ter)

SNV
Germline

Chr8:31157485

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1585536813

1 SubmittersRCV000812121

NM_000553.6(WRN):c.1431+2T>C

SNV
Germline

Chr8:31085248

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1455462438

1 SubmittersRCV000814546

NM_000553.6(WRN):c.1829+5G>A

SNV
Germline

Chr8:31090947

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_751015040

1 SubmittersRCV000804468

NM_000553.6(WRN):c.724+1G>A

SNV
Germline

Chr8:31068328

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1339616347

1 SubmittersRCV000817095

NM_000553.6(WRN):c.3460-7T>A

SNV
Germline

Chr8:31147357

Conflicting classifications of pathogenicity

Werner syndrome

Criteria Provided
Conflicting Classifications

rs_1334937558

2 SubmittersRCV000801878

NM_000553.6(WRN):c.2449-2A>C

SNV
Germline

Chr8:31120241

Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1585483030

2 SubmittersRCV000799008

NM_000553.6(WRN):c.3383+1G>T

SNV
Germline

Chr8:31143624

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1413656527

1 SubmittersRCV000798163

NM_000553.6(WRN):c.3819+1G>A

SNV
Germline

Chr8:31154756

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_748618811

1 SubmittersRCV000814888

NM_000553.6(WRN):c.3983-1G>T

SNV
Germline

Chr8:31167021

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_752465293

1 SubmittersRCV000810173

NM_000553.6(WRN):c.1296C>T (p.Asn432=)

SNV
Germline

Chr8:31083725

Conflicting classifications of pathogenicity

Werner syndrome
WRN-related disorder

Criteria Provided
Conflicting Classifications

rs_772082980

3 SubmittersRCV000861962 RCV004749479

NM_000553.6(WRN):c.3375T>C (p.Ser1125=)

SNV
Germline

Chr8:31143615

Conflicting classifications of pathogenicity

Werner syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_377535272

2 SubmittersRCV000869622 RCV001766777

NM_000553.6(WRN):c.3483A>T (p.Val1161=)

SNV
Germline

Chr8:31147387

Conflicting classifications of pathogenicity

Werner syndrome

Criteria Provided
Conflicting Classifications

rs_1292940121

2 SubmittersRCV000951939

NM_000553.6(WRN):c.1351-1G>A

SNV
Germline

Chr8:31085165

Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1170732591

3 SubmittersRCV000988045

NM_000553.6(WRN):c.171C>A (p.Tyr57Ter)

SNV
Germline

Chr8:31059227

Pathogenic

Werner syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_373806031

2 SubmittersRCV001068691 RCV001091592

NM_000553.6(WRN):c.1486A>T (p.Lys496Ter)

SNV
Germline

Chr8:31087830

Pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_751969803

2 SubmittersRCV001035933

NM_000553.6(WRN):c.1828A>T (p.Lys610Ter)

SNV
Germline

Chr8:31090941

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1813725603

1 SubmittersRCV001067145

NM_000553.6(WRN):c.2242C>T (p.Gln748Ter)

SNV
Germline

Chr8:31111768

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1801328287

1 SubmittersRCV001036042

NM_000553.6(WRN):c.2974C>T (p.Gln992Ter)

SNV
Germline

Chr8:31141436

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1802623856

1 SubmittersRCV001057807

NM_000553.6(WRN):c.3238A>T (p.Lys1080Ter)

SNV
Germline

Chr8:31142630

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1288018118

1 SubmittersRCV001049837

NM_000553.6(WRN):c.3724C>T (p.Gln1242Ter)

SNV
Germline

Chr8:31154660

Pathogenic/Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_762379051

3 SubmittersRCV001057497

NM_000553.6(WRN):c.2732+1G>C

SNV
Germline

Chr8:31124624

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1047229701

1 SubmittersRCV001071713

NM_000553.6(WRN):c.3820-2A>G

SNV
Germline

Chr8:31157366

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_759685032

1 SubmittersRCV001035119

NM_000553.6(WRN):c.97-1G>A

SNV
Germline

Chr8:31059152

Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_780988648

3 SubmittersRCV001069280

NM_000553.6(WRN):c.355+1G>T

SNV
Germline

Chr8:31064435

Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_775196937

2 SubmittersRCV001056217

NM_000553.6(WRN):c.2968-1G>A

SNV
Germline

Chr8:31141429

Likely pathogenic

Werner syndrome
Condition: not provided

Criteria Provided
Single Submitter

rs_1300106191

2 SubmittersRCV001049593 RCV001354971

NM_000553.6(WRN):c.3820-2A>C

SNV
Germline

Chr8:31157366

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_759685032

1 SubmittersRCV001036726

NM_000553.6(WRN):c.219A>G (p.Leu73=)

SNV
Germline

Chr8:31064298

Conflicting classifications of pathogenicity

Werner syndrome

Criteria Provided
Conflicting Classifications

rs_566693857

2 SubmittersRCV001158490

NM_000553.6(WRN):c.2166T>C (p.Asn722=)

SNV
Germline

Chr8:31111692

Conflicting classifications of pathogenicity

Werner syndrome

Criteria Provided
Conflicting Classifications

rs_1334120731

2 SubmittersRCV001161820

NM_000553.6(WRN):c.210-8C>T

SNV
Germline

Chr8:31064281

Conflicting classifications of pathogenicity

Werner syndrome

Criteria Provided
Conflicting Classifications

rs_1812609160

2 SubmittersRCV001158489

NM_000553.6(WRN):c.3820-12A>G

SNV
Germline

Chr8:31157356

Conflicting classifications of pathogenicity

Werner syndrome

Criteria Provided
Conflicting Classifications

rs_374684032

2 SubmittersRCV001163445

NM_000553.6(WRN):c.305T>A (p.Leu102Ter)

SNV
Germline

Chr8:31064384

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1812613241

1 SubmittersRCV001217677

NM_000553.6(WRN):c.944T>G (p.Leu315Ter)

SNV
Germline

Chr8:31080971

Pathogenic/Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1813280584

2 SubmittersRCV001221003

NM_000553.6(WRN):c.979G>T (p.Gly327Ter)

SNV
Germline

Chr8:31081006

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1813283817

1 SubmittersRCV001207861

NM_000553.6(WRN):c.1653-2A>T

SNV
Germline

Chr8:31090463

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1434118877

1 SubmittersRCV001207577

NM_000553.6(WRN):c.504+1G>A

SNV
Germline

Chr8:31065064

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1163988347

1 SubmittersRCV001216901

NM_000553.6(WRN):c.504+1G>T

SNV
Germline

Chr8:31065064

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1163988347

1 SubmittersRCV001219214

NM_000553.6(WRN):c.1432-2A>T

SNV
Germline

Chr8:31087774

Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1389423879

2 SubmittersRCV001224034

NM_000553.6(WRN):c.1720+5G>A

SNV
Germline

Chr8:31090537

Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1813707238

2 SubmittersRCV001220501

NM_000553.6(WRN):c.2967+1G>A

SNV
Germline

Chr8:31132507

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1474054365

1 SubmittersRCV001220614

NM_000553.6(WRN):c.3982+1G>T

SNV
Germline

Chr8:31157531

Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1381370500

2 SubmittersRCV001224659

NM_000553.6(WRN):c.2678T>G (p.Leu893Ter)

SNV
Germline

Chr8:31124569

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1801846606

1 SubmittersRCV001235164

NM_000553.6(WRN):c.4102G>A (p.Asp1368Asn)

SNV
Germline

Chr8:31167141

Conflicting classifications of pathogenicity

Werner syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

rs_1163698357

2 SubmittersRCV001233001 RCV003153954

NM_000553.6(WRN):c.356-2A>C

SNV
Germline

Chr8:31064913

Pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_780068269

2 SubmittersRCV001227506

NM_000553.6(WRN):c.3819+1G>C

SNV
Germline

Chr8:31154756

Conflicting classifications of pathogenicity

Werner syndrome

Criteria Provided
Conflicting Classifications

rs_748618811

2 SubmittersRCV001237942

NM_000553.6(WRN):c.1822C>T (p.Gln608Ter)

SNV
Germline

Chr8:31090935

Likely pathogenic

Werner syndrome

No Assertion Criteria Provided

rs_1813725009

1 SubmittersRCV001283784

NM_000553.6(WRN):c.58A>G (p.Asn20Asp)

SNV
Germline

Chr8:31058505

Conflicting classifications of pathogenicity

Werner syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_1233624462

2 SubmittersRCV001373798 RCV002246348

NM_000553.6(WRN):c.1350+1G>A

SNV
Germline

Chr8:31083780

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_752202315

1 SubmittersRCV001379807

NM_000553.6(WRN):c.2089-1G>C

SNV
Germline

Chr8:31111614

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_2130282582

1 SubmittersRCV001376916

NM_000553.6(WRN):c.2273+1G>A

SNV
Germline

Chr8:31111800

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_2130284894

1 SubmittersRCV001377268

NM_000553.6(WRN):c.3309+1G>T

SNV
Germline

Chr8:31142702

Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1281075870

2 SubmittersRCV001377929

NM_000553.6(WRN):c.3820-1G>A

SNV
Germline

Chr8:31157367

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1803425342

1 SubmittersRCV001379139

NM_000553.6(WRN):c.655-1G>A

SNV
Germline

Chr8:31068257

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_2130056280

1 SubmittersRCV001380057

NM_000553.6(WRN):c.724G>T (p.Glu242Ter)

SNV
Germline

Chr8:31068327

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_769959338

1 SubmittersRCV001387927

NM_000553.6(WRN):c.754A>T (p.Lys252Ter)

SNV
Germline

Chr8:31076202

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_751986285

1 SubmittersRCV001380326

NM_000553.6(WRN):c.1228C>T (p.Gln410Ter)

SNV
Germline

Chr8:31081255

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1563339055

1 SubmittersRCV001381357

NM_000553.6(WRN):c.1726G>T (p.Gly576Ter)

SNV
Germline

Chr8:31090839

Pathogenic

Werner syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1396973081

2 SubmittersRCV001383489 RCV003238365

NM_000553.6(WRN):c.1920C>G (p.Tyr640Ter)

SNV
Germline

Chr8:31096789

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_765756226

1 SubmittersRCV001390198

NM_000553.6(WRN):c.2551G>T (p.Glu851Ter)

SNV
Germline

Chr8:31120345

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1428459485

1 SubmittersRCV001388485

NM_000553.6(WRN):c.2855C>G (p.Ser952Ter)

SNV
Germline

Chr8:31132394

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1441659798

1 SubmittersRCV001390620

NM_000553.6(WRN):c.2884C>T (p.Gln962Ter)

SNV
Germline

Chr8:31132423

Pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1585502089

3 SubmittersRCV001386109

NM_000553.6(WRN):c.3150G>A (p.Trp1050Ter)

SNV
Germline

Chr8:31141692

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_2130417119

1 SubmittersRCV001380493

NM_000553.6(WRN):c.3769C>T (p.Gln1257Ter)

SNV
Germline

Chr8:31154705

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_2130470364

1 SubmittersRCV001390387

NM_000553.6(WRN):c.4197A>T (p.Ser1399=)

SNV
Germline

Chr8:31173000

Conflicting classifications of pathogenicity

Werner syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_1220777931

2 SubmittersRCV001494922 RCV001820198

NM_000553.6(WRN):c.3688-2A>G

SNV
Germline

Chr8:31154622

Pathogenic/Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2130469632

2 SubmittersRCV001785148

NM_000553.6(WRN):c.2826-1G>C

SNV
Germline

Chr8:31132364

Likely pathogenic

Condition: not provided
Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_756880457

2 SubmittersRCV001815970 RCV003505191

NM_000553.6(WRN):c.2548C>T (p.Gln850Ter)

SNV
Germline

Chr8:31120342

Pathogenic/Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2130322576

2 SubmittersRCV001917069

NM_000553.6(WRN):c.2448+1G>A

SNV
Germline

Chr8:31116529

Pathogenic/Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2130306367

2 SubmittersRCV001979697

NM_000553.6(WRN):c.3982+1G>C

SNV
Germline

Chr8:31157531

Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1381370500

2 SubmittersRCV001993732

NM_000553.6(WRN):c.2733-1G>A

SNV
Germline

Chr8:31124907

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_754056304

1 SubmittersRCV001991812

NM_000553.6(WRN):c.1096A>G (p.Lys366Glu)

SNV
Germline

Chr8:31081123

Conflicting classifications of pathogenicity

Werner syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_2130119772

2 SubmittersRCV002050401 RCV003289413

NM_000553.6(WRN):c.254G>A (p.Trp85Ter)

SNV
Germline

Chr8:31064333

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_2130032250

1 SubmittersRCV001864153

NM_000553.6(WRN):c.3460-1G>A

SNV
Germline

Chr8:31147363

Pathogenic/Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1802899166

2 SubmittersRCV002028426

NM_000553.6(WRN):c.655-20A>G

SNV
Germline

Chr8:31068238

Conflicting classifications of pathogenicity

Werner syndrome

Criteria Provided
Conflicting Classifications

rs_1056118121

2 SubmittersRCV001894074

NM_000553.6(WRN):c.3572+1G>T

SNV
Germline

Chr8:31147477

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_2130441377

1 SubmittersRCV001999136

NM_000553.6(WRN):c.1981+1G>C

SNV
Germline

Chr8:31096851

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1814007969

1 SubmittersRCV001995260

NM_000553.6(WRN):c.3982+1G>A

SNV
Germline

Chr8:31157531

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1381370500

1 SubmittersRCV002051051

NM_000553.6(WRN):c.1899-2A>T

SNV
Germline

Chr8:31096766

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1175230246

1 SubmittersRCV002017288

NM_000553.6(WRN):c.2732+1G>A

SNV
Germline

Chr8:31124624

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1047229701

1 SubmittersRCV002045323

NM_000553.6(WRN):c.3424C>T (p.Gln1142Ter)

SNV
Germline

Chr8:31147093

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1454512341

1 SubmittersRCV001989867

NM_000553.6(WRN):c.255G>A (p.Trp85Ter)

SNV
Germline

Chr8:31064334

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_2130032264

1 SubmittersRCV001993139

NM_000553.6(WRN):c.1629C>G (p.Tyr543Ter)

SNV
Germline

Chr8:31088942

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_2130164025

1 SubmittersRCV001915051

NM_000553.6(WRN):c.2503C>T (p.Gln835Ter)

SNV
Germline

Chr8:31120297

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_2130322156

1 SubmittersRCV001999967

NM_000553.6(WRN):c.1250T>C (p.Ile417Thr)

SNV
Germline

Chr8:31081277

Conflicting classifications of pathogenicity

Werner syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1295448612

2 SubmittersRCV002022021 RCV004970696

NM_000553.6(WRN):c.3336T>G (p.Tyr1112Ter)

SNV
Germline

Chr8:31143576

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1802745073

1 SubmittersRCV002035478

NM_000553.6(WRN):c.1462G>T (p.Glu488Ter)

SNV
Germline

Chr8:31087806

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_2130155645

1 SubmittersRCV001873127

NM_000553.6(WRN):c.3234-2A>C

SNV
Germline

Chr8:31142624

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1554533006

1 SubmittersRCV002013441

NM_000553.6(WRN):c.1231G>T (p.Glu411Ter)

SNV
Germline

Chr8:31081258

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_2130121425

1 SubmittersRCV001941527

NM_000553.6(WRN):c.3384-1G>T

SNV
Germline

Chr8:31147052

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_776963381

1 SubmittersRCV002005765

NM_000553.6(WRN):c.505-2A>G

SNV
Germline

Chr8:31067031

Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2130048793

2 SubmittersRCV002041449

NM_000553.6(WRN):c.571A>T (p.Lys191Ter)

SNV
Germline

Chr8:31067099

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1812737120

1 SubmittersRCV001946810

NM_000553.6(WRN):c.3123C>A (p.Cys1041Ter)

SNV
Germline

Chr8:31141585

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_773664315

1 SubmittersRCV001972390

NM_000553.6(WRN):c.31C>T (p.Gln11Ter)

SNV
Germline

Chr8:31058478

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_2130000774

1 SubmittersRCV001889051

NM_000553.6(WRN):c.839+1G>A

SNV
Germline

Chr8:31076288

Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2130095451

2 SubmittersRCV001995026

NM_000553.6(WRN):c.1350+1G>T

SNV
Germline

Chr8:31083780

Conflicting classifications of pathogenicity

Werner syndrome

Criteria Provided
Conflicting Classifications

rs_752202315

2 SubmittersRCV002017054

NM_000553.6(WRN):c.3459+2T>G

SNV
Germline

Chr8:31147130

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_2130439413

1 SubmittersRCV002050960

NM_000553.6(WRN):c.724G>C (p.Glu242Gln)

SNV
Germline

Chr8:31068327

Conflicting classifications of pathogenicity

Werner syndrome

Criteria Provided
Conflicting Classifications

rs_769959338

2 SubmittersRCV001906651

NM_000553.6(WRN):c.600G>A (p.Trp200Ter)

SNV
Germline

Chr8:31067128

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_2130050166

1 SubmittersRCV001951486

NM_000553.6(WRN):c.830A>C (p.Asn277Thr)

SNV
Germline

Chr8:31076278

Conflicting classifications of pathogenicity

Werner syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

rs_749379604

2 SubmittersRCV001918375 RCV003154048

NM_000553.6(WRN):c.3175C>T (p.Gln1059Ter)

SNV
Germline

Chr8:31141717

Pathogenic/Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1319491415

2 SubmittersRCV001981974

NM_000553.6(WRN):c.3234-1G>A

SNV
Germline

Chr8:31142625

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_866300270

1 SubmittersRCV002029527

NM_000553.6(WRN):c.985C>T (p.Gln329Ter)

SNV
Germline

Chr8:31081012

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1813285283

1 SubmittersRCV001949637

NM_000553.6(WRN):c.2630+1G>A

SNV
Germline

Chr8:31120425

Pathogenic/Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1279240593

2 SubmittersRCV002029182

NM_000553.6(WRN):c.1653-2A>G

SNV
Germline

Chr8:31090463

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1434118877

1 SubmittersRCV001978207

NM_000553.6(WRN):c.840-1G>C

SNV
Germline

Chr8:31080866

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_1395775047

1 SubmittersRCV001981161

NM_000553.6(WRN):c.3460-2A>G

SNV
Germline

Chr8:31147362

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

rs_281865159

1 SubmittersRCV002012480

NM_000553.6(WRN):c.96+1G>T

SNV
Germline

Chr8:31058544

Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002282834

NM_000553.6(WRN):c.3384-2A>G

SNV
Germline

Chr8:31147051

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003058675

NM_000553.6(WRN):c.3459+1G>A

SNV
Germline

Chr8:31147129

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003088430

NM_000553.6(WRN):c.994C>T (p.Gln332Ter)

SNV
Germline

Chr8:31081021

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002592193

NM_000553.6(WRN):c.1981+1G>A

SNV
Germline

Chr8:31096851

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002584283

NM_000553.6(WRN):c.1720+1G>T

SNV
Germline

Chr8:31090533

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002695936

NM_000553.6(WRN):c.2088+1G>T

SNV
Germline

Chr8:31100956

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002715017

NM_000553.6(WRN):c.96+1G>A

SNV
Germline

Chr8:31058544

Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002800690

NM_000553.6(WRN):c.725-2A>G

SNV
Germline

Chr8:31076171

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002856995

NM_000553.6(WRN):c.238G>T (p.Gly80Ter)

SNV
Germline

Chr8:31064317

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002875559

NM_000553.6(WRN):c.3685C>T (p.Gln1229Ter)

SNV
Germline

Chr8:31150453

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002867686

NM_000553.6(WRN):c.1720G>A (p.Gly574Arg)

SNV
Germline

Chr8:31090532

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002917601

NM_000553.6(WRN):c.2581C>T (p.Gln861Ter)

SNV
Germline

Chr8:31120375

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002975800

NM_000553.6(WRN):c.2153T>G (p.Leu718Ter)

SNV
Germline

Chr8:31111679

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002994633

NM_000553.6(WRN):c.111G>C (p.Lys37Asn)

SNV
Germline

Chr8:31059167

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003011812

NM_000553.6(WRN):c.724+515A>G

SNV
Germline

Chr8:31068842

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002994345

NM_000553.6(WRN):c.1003G>T (p.Glu335Ter)

SNV
Germline

Chr8:31081030

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003023162

NM_000553.6(WRN):c.1576+1G>A

SNV
Germline

Chr8:31087921

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003030975

NM_000553.6(WRN):c.3044G>A (p.Trp1015Ter)

SNV
Germline

Chr8:31141506

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003031205

NM_000553.6(WRN):c.724+513A>G

SNV
Germline

Chr8:31068840

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003015037

NM_000553.6(WRN):c.1173T>A (p.Cys391Ter)

SNV
Germline

Chr8:31081200

Pathogenic/Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003043813

NM_000553.6(WRN):c.1721-1G>A

SNV
Germline

Chr8:31090833

Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003054976

NM_000553.6(WRN):c.1350+1G>C

SNV
Germline

Chr8:31083780

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003036251

NM_000553.6(WRN):c.1219C>T (p.Gln407Ter)

SNV
Germline

Chr8:31081246

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003054122

NM_000553.6(WRN):c.221C>G (p.Ser74Ter)

SNV
Germline

Chr8:31064300

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003057210

NM_000553.6(WRN):c.434G>A (p.Trp145Ter)

SNV
Germline

Chr8:31064993

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003064157

NM_000553.6(WRN):c.654+2T>C

SNV
Germline

Chr8:31067184

Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003123402

NM_000553.6(WRN):c.1576+1G>T

SNV
Unknown

Chr8:31087921

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003464861

NM_000553.6(WRN):c.464T>A (p.Leu155Ter)

SNV
Germline

Chr8:31065023

Pathogenic/Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003466538

NM_000553.6(WRN):c.599G>A (p.Trp200Ter)

SNV
Unknown

Chr8:31067127

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003466541

NM_000553.6(WRN):c.554T>A (p.Leu185Ter)

SNV
Unknown

Chr8:31067082

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003466542

NM_000553.6(WRN):c.3190C>T (p.Gln1064Ter)

SNV
Unknown

Chr8:31141732

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003464866

NM_000553.6(WRN):c.4111A>T (p.Lys1371Ter)

SNV
Germline

Chr8:31167150

Pathogenic/Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003464867

NM_000553.6(WRN):c.1908C>G (p.Tyr636Ter)

SNV
Unknown

Chr8:31096777

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003464868

NM_000553.6(WRN):c.1871C>A (p.Ser624Ter)

SNV
Unknown

Chr8:31091871

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003466543

NM_000553.6(WRN):c.4117A>T (p.Arg1373Ter)

SNV
Unknown

Chr8:31167156

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003466544

NM_000553.6(WRN):c.2731C>T (p.Gln911Ter)

SNV
Unknown

Chr8:31124622

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003466545

NM_000553.6(WRN):c.2624T>G (p.Leu875Ter)

SNV
Unknown

Chr8:31120418

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003466546

NM_000553.6(WRN):c.1432-2A>G

SNV
Unknown

Chr8:31087774

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003464869

NM_000553.6(WRN):c.3383+1G>A

SNV
Unknown

Chr8:31143624

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003464870

NM_000553.6(WRN):c.1372G>T (p.Glu458Ter)

SNV
Unknown

Chr8:31085187

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003464872

NM_000553.6(WRN):c.356-2A>G

SNV
Unknown

Chr8:31064913

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003464873

NM_000553.6(WRN):c.840-2A>T

SNV
Unknown

Chr8:31080865

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003466548

NM_000553.6(WRN):c.3670C>T (p.Gln1224Ter)

SNV
Unknown

Chr8:31150438

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003466549

NM_000553.6(WRN):c.968C>G (p.Ser323Ter)

SNV
Unknown

Chr8:31080995

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003464876

NM_000553.6(WRN):c.1519G>T (p.Glu507Ter)

SNV
Unknown

Chr8:31087863

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003466553

NM_000553.6(WRN):c.2290G>T (p.Glu764Ter)

SNV
Unknown

Chr8:31116370

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003466554

NM_000553.6(WRN):c.3233+2T>C

SNV
Unknown

Chr8:31141777

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003464878

NM_000553.6(WRN):c.1873G>T (p.Glu625Ter)

SNV
Germline

Chr8:31091873

Pathogenic/Likely pathogenic

Werner syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003464879

NM_000553.6(WRN):c.1657C>T (p.Gln553Ter)

SNV
Unknown

Chr8:31090469

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003464880

NM_000553.6(WRN):c.1484T>G (p.Leu495Ter)

SNV
Germline

Chr8:31087828

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003486526

NM_000553.6(WRN):c.109A>T (p.Lys37Ter)

SNV
Germline

Chr8:31059165

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003506147

NM_000553.6(WRN):c.2023G>T (p.Glu675Ter)

SNV
Germline

Chr8:31100890

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003506343

NM_000553.6(WRN):c.1587G>A (p.Trp529Ter)

SNV
Germline

Chr8:31088900

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003506400

NM_000553.6(WRN):c.3041G>A (p.Trp1014Ter)

SNV
Germline

Chr8:31141503

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003506522

NM_000553.6(WRN):c.3572+2T>C

SNV
Germline

Chr8:31147478

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003504822

NM_000553.6(WRN):c.2151C>A (p.Cys717Ter)

SNV
Germline

Chr8:31111677

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003504980

NM_000553.6(WRN):c.767C>G (p.Ser256Ter)

SNV
Germline

Chr8:31076215

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003505043

NM_000553.6(WRN):c.3442C>T (p.Gln1148Ter)

SNV
Germline

Chr8:31147111

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003505627

NM_000553.6(WRN):c.3687+2T>C

SNV
Germline

Chr8:31150457

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003614343

NM_000553.6(WRN):c.3460-1G>C

SNV
Germline

Chr8:31147363

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003613678

NM_000553.6(WRN):c.3451G>T (p.Glu1151Ter)

SNV
Germline

Chr8:31147120

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003613536

NM_000553.6(WRN):c.2310C>A (p.Tyr770Ter)

SNV
Germline

Chr8:31116390

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003613702

NM_000553.6(WRN):c.505-1G>A

SNV
Germline

Chr8:31067032

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003613840

NM_000553.6(WRN):c.1829+2T>C

SNV
Germline

Chr8:31090944

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003614761

NM_000553.6(WRN):c.856A>T (p.Lys286Ter)

SNV
Germline

Chr8:31080883

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003614626

NM_000553.6(WRN):c.2273+2T>C

SNV
Germline

Chr8:31111801

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003614737

NM_000553.6(WRN):c.3309+2T>G

SNV
Germline

Chr8:31142703

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003614937

NM_000553.6(WRN):c.3897C>A (p.Cys1299Ter)

SNV
Germline

Chr8:31157445

Pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003615057

NM_000553.6(WRN):c.2968-1G>C

SNV
Germline

Chr8:31141429

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003615092

NM_000553.6(WRN):c.725-1G>C

SNV
Germline

Chr8:31076172

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003615099

NM_000553.6(WRN):c.725-1G>A

SNV
Germline

Chr8:31076172

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003615310

NM_000553.6(WRN):c.1577-2A>G

SNV
Germline

Chr8:31088888

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003615266

NM_000553.6(WRN):c.1720+1G>C

SNV
Germline

Chr8:31090533

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003990518

NM_000553.6(WRN):c.34C>T (p.Gln12Ter)

SNV
Unknown

Chr8:31058481

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004573860

NM_000553.6(WRN):c.3983-2A>G

SNV
Unknown

Chr8:31167020

Likely pathogenic

Werner syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004573868