Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr)	SNV Germline	Chr12:6018535	Pathogenic	Von Willebrand disease type 2A Condition: not provided Hereditary von Willebrand disease von Willebrand disease type 2 VWF-related disorder	Reviewed By Expert Panel	CA114115	rs_61750584	14 SubmittersRCV000000308 RCV000086808 RCV000778377 RCV002243602 RCV004739270
NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp)	SNV Germline	Chr12:6018629	Pathogenic	Von Willebrand disease type 2A Condition: not provided Inborn genetic diseases Hereditary von Willebrand disease not specified von Willebrand disease type 2	Reviewed By Expert Panel	CA114117	rs_61750117	15 SubmittersRCV000000309 RCV000086797 RCV000623564 RCV000851942 RCV000999877 RCV002243603
NM_000552.5(VWF):c.4820T>A (p.Val1607Asp)	SNV Germline	Chr12:6018598	Likely pathogenic	Von Willebrand disease type 2A Condition: not provided von Willebrand disease type 2	Criteria Provided Single Submitter	CA114119	rs_61750579	4 SubmittersRCV000000310 RCV000086803 RCV002243604
NM_000552.5(VWF):c.3939G>C (p.Trp1313Cys)	SNV Germline	Chr12:6019479	Pathogenic	Von Willebrand disease type 2B Condition: not provided	No Assertion Criteria Provided	CA114121	rs_61749392	2 SubmittersRCV000000311 RCV000086709
NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp)	SNV Germline	Chr12:6019502	Pathogenic	Von Willebrand disease type 2B Condition: not provided Hereditary von Willebrand disease von Willebrand disease type 2 Abnormality of coagulation	Reviewed By Expert Panel	CA114123	rs_61749384	13 SubmittersRCV000000312 RCV000086699 RCV000851599 RCV000851989 RCV000851990
NM_000552.5(VWF):c.3922C>T (p.Arg1308Cys)	SNV Germline	Chr12:6019496	Pathogenic	Von Willebrand disease type 2B Condition: not provided Hereditary von Willebrand disease von Willebrand disease type 2	Reviewed By Expert Panel	CA114125	rs_61749387	13 SubmittersRCV000000313 RCV000086703 RCV000851770 RCV002225253
NM_000552.5(VWF):c.3946G>A (p.Val1316Met)	SNV Germline	Chr12:6019472	Pathogenic	Von Willebrand disease type 2B Condition: not provided not specified Hereditary von Willebrand disease von Willebrand disease type 2 von Willebrand disease type 1 von Willebrand disease type 3 von Willebrand disease type 2	Reviewed By Expert Panel	CA114127	rs_61749397	14 SubmittersRCV000000314 RCV000086715 RCV000507168 RCV000678767 RCV000851771 RCV002476901
NM_000552.5(VWF):c.4022G>A (p.Arg1341Gln)	SNV Germline	Chr12:6019396	Pathogenic	Von Willebrand disease type 2B Condition: not provided Hereditary von Willebrand disease von Willebrand disease type 2 VWF-related disorder	Reviewed By Expert Panel	CA114129	rs_61749403	8 SubmittersRCV000000315 RCV000086721 RCV002227435 RCV002243605 RCV004547443
NM_000552.5(VWF):c.4837T>C (p.Ser1613Pro)	SNV Germline	Chr12:6018581	Pathogenic	Von Willebrand disease type 2A Condition: not provided	No Assertion Criteria Provided	CA114131	rs_61750581	2 SubmittersRCV000000316 RCV000086805
NM_000552.5(VWF):c.2372C>T (p.Thr791Met)	SNV Germline	Chr12:6044361	Pathogenic	von Willebrand disease type 2N Condition: not provided Abnormal bleeding Hereditary von Willebrand disease von Willebrand disease type 2	Reviewed By Expert Panel	CA114135	rs_61748477	8 SubmittersRCV000000318 RCV000086606 RCV000851745 RCV002227436 RCV002264633
NM_000552.5(VWF):c.2446C>T (p.Arg816Trp)	SNV Germline	Chr12:6036488	Pathogenic	von Willebrand disease type 2N Condition: not provided Hereditary von Willebrand disease von Willebrand disease type 1 von Willebrand disease type 3 von Willebrand disease type 2	Reviewed By Expert Panel	CA114137	rs_121964894	8 SubmittersRCV000000319 RCV000086613 RCV001195286 RCV004795363
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)	SNV Germline	Chr12:6034812	Pathogenic	von Willebrand disease type 2N von Willebrand disease type 1 Condition: not provided Hereditary von Willebrand disease von Willebrand disease type 2 von Willebrand disease type 2 von Willebrand disease type 3 von Willebrand disease type 1 Abnormality of coagulation Thrombocytopenia Abnormal bleeding von Willebrand disorder VWF-related disorder von Willebrand disease type 3	Reviewed By Expert Panel	CA114139	rs_41276738	45 SubmittersRCV000000320 RCV000000321 RCV000086620 RCV000169683 RCV000336497 RCV000762901 RCV000851593 RCV001270529 RCV003987302 RCV004547445 RCV004771452
NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter)	SNV Germline	Chr12:6018443	Pathogenic	von Willebrand disease type 1 von Willebrand disease type 3 Condition: not provided Hereditary von Willebrand disease VWF-related disorder	Reviewed By Expert Panel	CA114141	rs_61750595	10 SubmittersRCV000000323 RCV000000322 RCV000086820 RCV002227437 RCV004739271
NM_000552.5(VWF):c.5557C>T (p.Arg1853Ter)	SNV Germline	Chr12:6013544	Pathogenic	von Willebrand disease type 1 von Willebrand disease type 3 Condition: not provided Hereditary von Willebrand disease Abnormality of blood and blood-forming tissues von Willebrand disease type 2 VWF-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA114143	rs_61750612	8 SubmittersRCV000000325 RCV000000324 RCV000086843 RCV000851820 RCV001813924 RCV003447467 RCV004547446
NM_000552.5(VWF):c.7603C>T (p.Arg2535Ter)	SNV Germline	Chr12:5969337	Pathogenic	von Willebrand disease type 3 Condition: not provided Hereditary von Willebrand disease von Willebrand disease type 1	Criteria Provided Multiple Submitters No Conflicts	CA114145	rs_61751296	10 SubmittersRCV000000326 RCV000086892 RCV002227438 RCV002264634
NM_000552.5(VWF):c.3970G>A (p.Gly1324Ser)	SNV Germline	Chr12:6019448	Pathogenic	von Willebrand disease type 2M Condition: not provided von Willebrand disease type 2	Reviewed By Expert Panel	CA114147	rs_61749398	5 SubmittersRCV000000327 RCV000086716 RCV003447468
NM_000552.5(VWF):c.3814T>C (p.Cys1272Arg)	SNV Germline	Chr12:6019604	Pathogenic	Von Willebrand disease type 2A Condition: not provided von Willebrand disease type 2	Criteria Provided Single Submitter	CA114149	rs_61749372	4 SubmittersRCV000000328 RCV000086679 RCV002243607
NM_000552.5(VWF):c.3940G>C (p.Val1314Leu)	SNV Germline	Chr12:6019478	Pathogenic	Von Willebrand disease type 2B Condition: not provided	Reviewed By Expert Panel	CA114151	rs_61749393	3 SubmittersRCV000000329 RCV000087017
NM_000552.5(VWF):c.4541T>G (p.Phe1514Cys)	SNV Germline	Chr12:6018877	Pathogenic	Von Willebrand disease type 2A Condition: not provided	No Assertion Criteria Provided	CA114154	rs_61750101	2 SubmittersRCV000000331 RCV000086775
NM_000552.5(VWF):c.1648G>A (p.Gly550Arg)	SNV Germline	Chr12:6057930	Pathogenic	Von Willebrand disease type 2A Condition: not provided	No Assertion Criteria Provided	CA114156	rs_61754011	2 SubmittersRCV000000332 RCV000086570
NM_000552.5(VWF):c.8317T>C (p.Cys2773Arg)	SNV Germline	Chr12:5949140	Pathogenic	Von Willebrand disease type 2A Condition: not provided	Reviewed By Expert Panel	CA114158	rs_61751310	3 SubmittersRCV000000333 RCV000086917
NM_000552.5(VWF):c.3614G>A (p.Arg1205His)	SNV Germline	Chr12:6021960	Pathogenic	von Willebrand disease type 1 von Willebrand factor Vicenza Condition: not provided Reduced von Willebrand factor activity Reduced quantity of Von Willebrand factor Hereditary von Willebrand disease VWF-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA114160	rs_121964895	9 SubmittersRCV000000335 RCV000000336 RCV000086666 RCV001003906 RCV000851598 RCV004547447
NM_000552.5(VWF):c.3445T>C (p.Cys1149Arg)	SNV Germline	Chr12:6022833	Pathogenic	von Willebrand disease type 1 Condition: not provided von Willebrand disease type 2 Von Willebrand disease type 2A	Reviewed By Expert Panel	CA228410	rs_61748511	4 SubmittersRCV000000337 RCV000086657 RCV002264636 RCV004821258
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)	SNV Germline	Chr12:6018667	Conflicting classifications of pathogenicity; risk factor	Condition: not provided Inborn genetic diseases Hereditary von Willebrand disease von Willebrand disease type 2 von Willebrand disease type 1 Thrombus Thrombocytopenia VWF-related disorder von Willebrand disorder von Willebrand disease type 2 von Willebrand disease type 3 von Willebrand disease type 1	Criteria Provided Conflicting Classifications	CA114162	rs_1800386	28 SubmittersRCV000000338 RCV000086795 RCV000622977 RCV000678772 RCV001255177 RCV001843449 RCV002280857 RCV003313770 RCV004547448 RCV004700174 RCV004795364
NM_000552.5(VWF):c.3854C>T (p.Ser1285Phe)	SNV Germline	Chr12:6019564	Likely pathogenic	von Willebrand disease type 2M Condition: not provided	Reviewed By Expert Panel	CA114164	rs_61749380	3 SubmittersRCV000000339 RCV000086691
NM_000552.5(VWF):c.2384A>G (p.Tyr795Cys)	SNV Germline	Chr12:6044349	Pathogenic	von Willebrand disease type 2N Condition: not provided	No Assertion Criteria Provided	CA114166	rs_61748478	2 SubmittersRCV000000340 RCV000086607
NM_000552.5(VWF):c.2411G>T (p.Cys804Phe)	SNV Germline	Chr12:6044322	Pathogenic	von Willebrand disease type 2N Condition: not provided	No Assertion Criteria Provided	CA114168	rs_62643630	2 SubmittersRCV000000341 RCV000086609
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)	SNV Germline	Chr12:6019621	Conflicting classifications of pathogenicity	Von Willebrand disease type 2B Condition: not provided Hereditary von Willebrand disease von Willebrand disease type 2 von Willebrand disease type 1 Thrombocytopenia VWF-related disorder	Criteria Provided Conflicting Classifications	CA114170	rs_61749370	22 SubmittersRCV000000342 RCV000086676 RCV000314989 RCV000853236 RCV002247228 RCV003313771 RCV004547449
NM_000552.5(VWF):c.7085G>T (p.Cys2362Phe)	SNV Germline	Chr12:5981988	Pathogenic	von Willebrand disease type 3 Condition: not provided	No Assertion Criteria Provided	CA114172	rs_61750630	3 SubmittersRCV000000343 RCV000086870
NM_000552.5(VWF):c.1071C>A (p.Tyr357Ter)	SNV Germline	Chr12:6072369	Pathogenic	von Willebrand disease type 2N Condition: not provided	No Assertion Criteria Provided	CA114174	rs_61754002	2 SubmittersRCV000000344 RCV000086555
NM_000552.5(VWF):c.3178T>C (p.Cys1060Arg)	SNV Germline	Chr12:6025624	Pathogenic	von Willebrand disease type 2N Condition: not provided	No Assertion Criteria Provided	CA114176	rs_61748497	2 SubmittersRCV000000345 RCV000086640
NM_000552.5(VWF):c.1583A>G (p.Asn528Ser)	SNV Germline	Chr12:6057995	Pathogenic	Von Willebrand disease type 2A Condition: not provided von Willebrand disease type 2	Reviewed By Expert Panel	CA114178	rs_61754010	4 SubmittersRCV000000346 RCV000086569 RCV002243608
NM_000552.5(VWF):c.3437A>G (p.Tyr1146Cys)	SNV Germline	Chr12:6022841	Pathogenic	von Willebrand disease type 2 Condition: not provided Hereditary von Willebrand disease not specified von Willebrand disease type 1 Von Willebrand disease type 2A	Reviewed By Expert Panel	CA228408	rs_267607326	8 SubmittersRCV000024001 RCV000086656 RCV000851956 RCV001800314 RCV002264640 RCV004821262
NM_000552.5(VWF):c.2279G>A (p.Arg760His)	SNV Germline	Chr12:6046725	Pathogenic	von Willebrand disease type 1 Condition: not provided	No Assertion Criteria Provided	CA228316	rs_61748467	2 SubmittersRCV000024003 RCV000086595
NM_000552.5(VWF):c.100C>T (p.Arg34Ter)	SNV Germline	Chr12:6121294	Pathogenic	Condition: not provided von Willebrand disease type 3 von Willebrand disease type 2 VWF-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA228255	rs_61753984	5 SubmittersRCV000086554 RCV001787039 RCV003447491 RCV004739354
NM_000552.5(VWF):c.1093C>T (p.Arg365Ter)	SNV Germline	Chr12:6072347	Pathogenic	Condition: not provided von Willebrand disease type 3 VWF-related disorder	Criteria Provided Single Submitter	CA228257	rs_61754003	3 SubmittersRCV000086556 RCV001787040 RCV004549525
NM_000552.5(VWF):c.1117C>T (p.Arg373Ter)	SNV Germline	Chr12:6071336	Pathogenic	Condition: not provided Hereditary von Willebrand disease	Criteria Provided Multiple Submitters No Conflicts	CA228261	rs_62643625	3 SubmittersRCV000086559 RCV003486648
NM_000552.5(VWF):c.1534-3C>A	SNV Germline	Chr12:6058047	Likely pathogenic	Condition: not provided von Willebrand disease type 3	No Assertion Criteria Provided	CA228276	rs_61754009	2 SubmittersRCV000086567 RCV001787041
NM_000552.5(VWF):c.1922C>T (p.Ala641Val)	SNV Germline	Chr12:6056880	Conflicting classifications of pathogenicity	Condition: not provided von Willebrand disease type 2 von Willebrand disease type 1 von Willebrand disease type 3 Hereditary von Willebrand disease not specified Hemorrhage	Criteria Provided Conflicting Classifications	CA228298	rs_61754019	9 SubmittersRCV000086582 RCV000477864 RCV000851726 RCV004595919 RCV003313777
NM_000552.5(VWF):c.1930G>T (p.Glu644Ter)	SNV Germline	Chr12:6056872	Pathogenic	Condition: not provided von Willebrand disease type 3	No Assertion Criteria Provided	CA228302	rs_61748460	2 SubmittersRCV000086584 RCV001787042
NM_000552.5(VWF):c.2116C>T (p.Gln706Ter)	SNV Germline	Chr12:6052613	Pathogenic	Condition: not provided von Willebrand disease type 3	No Assertion Criteria Provided	CA228307	rs_61748463	2 SubmittersRCV000086588 RCV001787043
NM_000552.5(VWF):c.212C>A (p.Ser71Ter)	SNV Germline	Chr12:6121182	Likely pathogenic	Condition: not provided von Willebrand disease type 3	Criteria Provided Single Submitter	CA228310	rs_62643619	2 SubmittersRCV000086590 RCV004771460
NM_000552.5(VWF):c.2278C>T (p.Arg760Cys)	SNV Germline	Chr12:6046726	Conflicting classifications of pathogenicity	von Willebrand disease type 2 von Willebrand disease type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA228314	rs_61748466	5 SubmittersRCV003147338 RCV003992184 RCV000086594
NM_000552.5(VWF):c.2443-1G>C	SNV Germline	Chr12:6036492	Pathogenic/Likely pathogenic	Condition: not provided von Willebrand disease type 3	Criteria Provided Multiple Submitters No Conflicts	CA228342	rs_61748480	4 SubmittersRCV000086612 RCV001787047
NM_000552.5(VWF):c.2560C>T (p.Arg854Trp)	SNV Germline	Chr12:6034813	Likely pathogenic	Condition: not provided Hereditary von Willebrand disease von Willebrand disease type 3	Criteria Provided Multiple Submitters No Conflicts	CA228351	rs_61748482	4 SubmittersRCV000086619 RCV004017399 RCV001787049
NM_000552.5(VWF):c.2635G>A (p.Asp879Asn)	SNV Germline	Chr12:6034738	Pathogenic	Condition: not provided von Willebrand disease type 2N	Reviewed By Expert Panel	CA228357	rs_61748485	2 SubmittersRCV000086623 RCV004812300
NM_000552.5(VWF):c.2771G>A (p.Arg924Gln)	SNV Germline	Chr12:6031493	Conflicting classifications of pathogenicity	von Willebrand disease type 3 von Willebrand disease type 2 von Willebrand disease type 1 Hereditary von Willebrand disease Condition: not provided	Criteria Provided Conflicting Classifications	CA228368	rs_33978901	10 SubmittersRCV001787051 RCV002243720 RCV002243719 RCV003447494 RCV000086632
NM_000552.5(VWF):c.2936G>A (p.Ser979Asn)	SNV Germline	Chr12:6029373	Likely pathogenic	Condition: not provided von Willebrand disease type 1	Criteria Provided Single Submitter	CA228372	rs_267607312	2 SubmittersRCV000086635 RCV002264642
NM_000552.5(VWF):c.3108+5G>A	SNV Germline	Chr12:6025901	Conflicting classifications of pathogenicity	Hereditary von Willebrand disease von Willebrand disease type 1 von Willebrand disease type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA228377	rs_61748495	7 SubmittersRCV000852109 RCV002280867 RCV002243721 RCV000086638
NM_000552.5(VWF):c.3159G>T (p.Gln1053His)	SNV Germline	Chr12:6025643	Likely pathogenic	Condition: not provided von Willebrand disease type 2	Criteria Provided Single Submitter	CA228378	rs_61748496	2 SubmittersRCV000086639 RCV003447495
NM_000552.5(VWF):c.3179G>A (p.Cys1060Tyr)	SNV Germline	Chr12:6025623	Pathogenic	Condition: not provided von Willebrand disease type 2 von Willebrand disease type 1	Criteria Provided Single Submitter	CA228380	rs_267607314	2 SubmittersRCV000086641 RCV002264644 RCV002264643
NM_000552.5(VWF):c.3232G>A (p.Glu1078Lys)	SNV Germline	Chr12:6023778	Likely pathogenic	Condition: not provided von Willebrand disease type 1	Criteria Provided Multiple Submitters No Conflicts	CA228384	rs_267607316	3 SubmittersRCV000086643 RCV003989318
NM_000552.5(VWF):c.3359G>C (p.Trp1120Ser)	SNV Germline	Chr12:6023651	Likely pathogenic	Condition: not provided Hereditary von Willebrand disease von Willebrand disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA228396	rs_267607321	3 SubmittersRCV000086649 RCV000851636 RCV002281057
NM_000552.5(VWF):c.3379+1G>A	SNV Germline	Chr12:6023630	Pathogenic	Condition: not provided Hereditary von Willebrand disease von Willebrand disease type 3 von Willebrand disease type 1	Criteria Provided Multiple Submitters No Conflicts	CA228398	rs_2363337	5 SubmittersRCV000086650 RCV000851637 RCV001787052 RCV004820829
NM_000552.5(VWF):c.3389G>T (p.Cys1130Phe)	SNV Germline	Chr12:6022889	Pathogenic	Condition: not provided von Willebrand disease type 2	Criteria Provided Single Submitter	CA228404	rs_267607324	3 SubmittersRCV000086654 RCV002243723
NM_000552.5(VWF):c.3467C>T (p.Thr1156Met)	SNV Germline	Chr12:6022811	Pathogenic/Likely pathogenic	Condition: not provided Hereditary von Willebrand disease von Willebrand disease type 3 von Willebrand disease type 1 von Willebrand disorder	Criteria Provided Multiple Submitters No Conflicts	CA228414	rs_267607328	6 SubmittersRCV000086659 RCV000851957 RCV001787053 RCV002264645 RCV004586549
NM_000552.5(VWF):c.3538G>A (p.Gly1180Arg)	SNV Germline	Chr12:6022740	Pathogenic/Likely pathogenic	Condition: not provided Von Willebrand disease type 2A Hereditary von Willebrand disease	Criteria Provided Multiple Submitters No Conflicts	CA228421	rs_267607332	3 SubmittersRCV000086663 RCV001093531 RCV003126497
NM_000552.5(VWF):c.3568T>C (p.Cys1190Arg)	SNV Germline	Chr12:6022006	Pathogenic/Likely pathogenic	Condition: not provided Hereditary von Willebrand disease von Willebrand disease type 3 von Willebrand disease type 1	Criteria Provided Multiple Submitters No Conflicts	CA228423	rs_61749364	4 SubmittersRCV000086664 RCV000851643 RCV001787054 RCV002264646
NM_000552.5(VWF):c.3679T>C (p.Cys1227Arg)	SNV Germline	Chr12:6019739	Likely pathogenic	Condition: not provided von Willebrand disease type 3	No Assertion Criteria Provided	CA228431	rs_61749366	2 SubmittersRCV000086669 RCV001787055
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln)	SNV Germline	Chr12:6019621	Conflicting classifications of pathogenicity	Hereditary von Willebrand disease von Willebrand disease type 2 von Willebrand disease type 1 not specified von Willebrand disease type 2 von Willebrand disease type 1 von Willebrand disease type 3 VWF-related disorder EBV-positive nodal T- and NK-cell lymphoma Condition: not provided	Criteria Provided Conflicting Classifications	CA228441	rs_61749370	17 SubmittersRCV000678765 RCV001823113 RCV002247493 RCV002281924 RCV002490753 RCV004549528 RCV004558309 RCV000086675
NM_000552.5(VWF):c.3802C>G (p.His1268Asp)	SNV Germline	Chr12:6019616	Pathogenic	von Willebrand disease type 2 Hereditary von Willebrand disease Von Willebrand disease type 2B Condition: not provided	Reviewed By Expert Panel	CA228445	rs_61749371	6 SubmittersRCV002243726 RCV002243727 RCV004821264 RCV000086678
NM_000552.5(VWF):c.3853T>C (p.Ser1285Pro)	SNV Germline	Chr12:6019565	Pathogenic	Condition: not provided von Willebrand disease type 2	Criteria Provided Single Submitter	CA228466	rs_61749379	2 SubmittersRCV000086690 RCV002264650
NM_000552.5(VWF):c.3863T>G (p.Leu1288Arg)	SNV Germline	Chr12:6019555	Pathogenic/Likely pathogenic	Condition: not provided Hereditary von Willebrand disease von Willebrand disease type 1 von Willebrand disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA228470	rs_267607334	4 SubmittersRCV000086693 RCV000851986 RCV002264651 RCV002264652
NM_000552.5(VWF):c.3877T>C (p.Phe1293Leu)	SNV Germline	Chr12:6019541	Pathogenic	Condition: not provided von Willebrand disease type 2	Criteria Provided Single Submitter	CA228472	rs_267607335	2 SubmittersRCV000086694 RCV002264653
NM_000552.5(VWF):c.3917G>A (p.Arg1306Gln)	SNV Germline	Chr12:6019501	Pathogenic	Condition: not provided von Willebrand disease type 2 VWF-related disorder	Criteria Provided Single Submitter	CA228482	rs_61749385	4 SubmittersRCV000086700 RCV002243729 RCV004739357
NM_000552.5(VWF):c.3917G>T (p.Arg1306Leu)	SNV Germline	Chr12:6019501	Pathogenic	Condition: not provided von Willebrand disease type 2 Hereditary von Willebrand disease	Criteria Provided Single Submitter	CA228484	rs_61749385	3 SubmittersRCV000086701 RCV002243730 RCV003226194
NM_000552.5(VWF):c.3920T>C (p.Leu1307Pro)	SNV Germline	Chr12:6019498	Pathogenic	Condition: not provided von Willebrand disease type 2	Criteria Provided Single Submitter	CA228486	rs_61749386	2 SubmittersRCV000086702 RCV002264654
NM_000552.5(VWF):c.3925A>G (p.Ile1309Val)	SNV Germline	Chr12:6019493	Pathogenic	Condition: not provided Hereditary von Willebrand disease von Willebrand disease type 2	Criteria Provided Single Submitter	CA228492	rs_61749389	4 SubmittersRCV000086706 RCV000678766 RCV002243731
NM_000552.5(VWF):c.3929C>T (p.Ser1310Phe)	SNV Germline	Chr12:6019489	Likely pathogenic	Condition: not provided Von Willebrand disease type 2B	Reviewed By Expert Panel	CA228494	rs_61749390	2 SubmittersRCV000086707 RCV004821265
NM_000552.5(VWF):c.3931C>T (p.Gln1311Ter)	SNV Germline	Chr12:6019487	Pathogenic	Condition: not provided von Willebrand disease type 3 Hereditary von Willebrand disease Thrombocytopenia	Criteria Provided Multiple Submitters No Conflicts	CA228496	rs_267607337	6 SubmittersRCV000086708 RCV001787056 RCV001250230 RCV002280869
NM_000552.5(VWF):c.3940G>T (p.Val1314Phe)	SNV Germline	Chr12:6019478	Pathogenic	Condition: not provided Von Willebrand disease type 2B	Reviewed By Expert Panel	CA228498	rs_61749393	3 SubmittersRCV000086710 RCV004821266
NM_000552.5(VWF):c.3941T>A (p.Val1314Asp)	SNV Germline	Chr12:6019477	Pathogenic	Condition: not provided Von Willebrand disease type 2B	Reviewed By Expert Panel	CA228500	rs_61749394	2 SubmittersRCV000086711 RCV004821267
NM_000552.5(VWF):c.3943C>T (p.Arg1315Cys)	SNV Germline	Chr12:6019475	Pathogenic/Likely pathogenic	Condition: not provided Hereditary von Willebrand disease von Willebrand disease type 2 von Willebrand disease type 1 VWF-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA228502	rs_61749395	8 SubmittersRCV000086712 RCV000851600 RCV002243732 RCV002264655 RCV004549529
NM_000552.5(VWF):c.3944G>A (p.Arg1315His)	SNV Germline	Chr12:6019474	Likely pathogenic	von Willebrand disease type 2 von Willebrand disease type 1 Inborn genetic diseases von Willebrand disease type 2M Condition: not provided	Reviewed By Expert Panel	CA228504	rs_61749396	8 SubmittersRCV002466429 RCV003333732 RCV004678609 RCV004821268 RCV000086713
NM_000552.5(VWF):c.3944G>T (p.Arg1315Leu)	SNV Germline	Chr12:6019474	Pathogenic	Condition: not provided von Willebrand disease type 2	No Assertion Criteria Provided	CA228506	rs_61749396	2 SubmittersRCV000086714 RCV002243733
NM_000552.5(VWF):c.3971G>C (p.Gly1324Ala)	SNV Germline	Chr12:6019447	Pathogenic	Condition: not provided von Willebrand disease type 2M	Reviewed By Expert Panel	CA228508	rs_61749399	2 SubmittersRCV000086717 RCV004821269
NM_000552.5(VWF):c.4010C>T (p.Pro1337Leu)	SNV Germline	Chr12:6019408	Pathogenic/Likely pathogenic	Condition: not provided von Willebrand disease type 1 von Willebrand disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA228510	rs_61749400	4 SubmittersRCV000086718 RCV002222015 RCV002243734
NM_000552.5(VWF):c.4021C>T (p.Arg1341Trp)	SNV Germline	Chr12:6019397	Pathogenic/Likely pathogenic	Condition: not provided von Willebrand disease type 1 von Willebrand disease type 2 Hereditary von Willebrand disease	Criteria Provided Multiple Submitters No Conflicts	CA228514	rs_61749402	8 SubmittersRCV000086720 RCV002280870 RCV002243735 RCV003323398
NM_000552.5(VWF):c.4022G>C (p.Arg1341Pro)	SNV Germline	Chr12:6019396	Likely pathogenic	Condition: not provided von Willebrand disease type 2	Criteria Provided Single Submitter	CA228516	rs_61749403	2 SubmittersRCV000086722 RCV002264656
NM_000552.5(VWF):c.4036C>T (p.Gln1346Ter)	SNV Germline	Chr12:6019382	Pathogenic	Condition: not provided von Willebrand disease type 3	No Assertion Criteria Provided	CA228522	rs_61749405	2 SubmittersRCV000086725 RCV001787057
NM_000552.5(VWF):c.4075G>A (p.Glu1359Lys)	SNV Germline	Chr12:6019343	Pathogenic	Condition: not provided von Willebrand disease type 1	Criteria Provided Multiple Submitters No Conflicts	CA228524	rs_61749407	4 SubmittersRCV000086726 RCV002264657
NM_000552.5(VWF):c.4082T>C (p.Leu1361Ser)	SNV Germline	Chr12:6019336	Likely pathogenic	Condition: not provided not specified Hereditary von Willebrand disease	Criteria Provided Single Submitter	CA228528	rs_61749408	3 SubmittersRCV000086728 RCV000678768 RCV000851781
NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile)	SNV Germline	Chr12:6019313	Pathogenic/Likely pathogenic	Hereditary von Willebrand disease von Willebrand disease type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA228533	rs_61750069	8 SubmittersRCV000851784 RCV002222390 RCV000086731
NM_000552.5(VWF):c.4115T>G (p.Ile1372Ser)	SNV Germline	Chr12:6019303	Conflicting classifications of pathogenicity	Condition: not provided Hereditary von Willebrand disease not specified von Willebrand disease type 2	Criteria Provided Conflicting Classifications	CA228535	rs_61750070	5 SubmittersRCV000086732 RCV000678769 RCV003226195 RCV002243736
NM_000552.5(VWF):c.4120C>T (p.Arg1374Cys)	SNV Germline	Chr12:6019298	Pathogenic	Condition: not provided Hereditary von Willebrand disease von Willebrand disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA228539	rs_61750071	12 SubmittersRCV000086734 RCV000678770 RCV002222016
NM_000552.5(VWF):c.4121G>A (p.Arg1374His)	SNV Germline	Chr12:6019297	Pathogenic	Condition: not provided Prolonged bleeding time Abnormal bleeding Hereditary von Willebrand disease von Willebrand disease type 2 von Willebrand disease type 1 Von Willebrand disease type 2A von Willebrand disease type 1 von Willebrand disease type 2M	Reviewed By Expert Panel	CA228541	rs_61750072	14 SubmittersRCV000086735 RCV000626712 RCV000851939 RCV000852116 RCV002264658 RCV001093529
NM_000552.5(VWF):c.4121G>T (p.Arg1374Leu)	SNV Germline	Chr12:6019297	Pathogenic/Likely pathogenic	Condition: not provided von Willebrand disease type 2 Hereditary von Willebrand disease	Criteria Provided Multiple Submitters No Conflicts	CA228543	rs_61750072	6 SubmittersRCV000086736 RCV002264659 RCV002243737
NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys)	SNV Germline	Chr12:6019283	Pathogenic/Likely pathogenic	Condition: not provided Hereditary von Willebrand disease von Willebrand disease type 2 von Willebrand disease type 1 VWF-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA228547	rs_61750074	12 SubmittersRCV000086738 RCV000778378 RCV002243738 RCV002264660 RCV003335097
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys)	SNV Germline	Chr12:6019223	Likely pathogenic	Hereditary von Willebrand disease von Willebrand disease type 2 von Willebrand disorder von Willebrand disease type 2M Condition: not provided	Reviewed By Expert Panel	CA228555	rs_61750077	13 SubmittersRCV000852119 RCV002222017 RCV004700405 RCV004821270 RCV000086742
NM_000552.5(VWF):c.421G>A (p.Asp141Asn)	SNV Germline	Chr12:6110485	Pathogenic/Likely pathogenic	Condition: not provided Hereditary von Willebrand disease von Willebrand disease type 1	Criteria Provided Multiple Submitters No Conflicts	CA228557	rs_61753992	4 SubmittersRCV000086743 RCV000852120 RCV002264661
NM_000552.5(VWF):c.4244G>A (p.Gly1415Asp)	SNV Germline	Chr12:6019174	Likely pathogenic	Condition: not provided von Willebrand disease type 2M	Reviewed By Expert Panel	CA228567	rs_61750080	2 SubmittersRCV000086748 RCV004821271
NM_000552.5(VWF):c.4247T>A (p.Ile1416Asn)	SNV Germline	Chr12:6019171	Likely pathogenic	Condition: not provided Hereditary von Willebrand disease von Willebrand disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA228569	rs_61750081	4 SubmittersRCV000086749 RCV000852123 RCV002243740
NM_000552.5(VWF):c.4273A>T (p.Ile1425Phe)	SNV Germline	Chr12:6019145	Likely pathogenic	Condition: not provided Hereditary von Willebrand disease von Willebrand disease type 2 von Willebrand disease type 1 von Willebrand disease type 3	Criteria Provided Multiple Submitters No Conflicts	CA228573	rs_61750083	5 SubmittersRCV000086751 RCV002227446 RCV002498470
NM_000552.5(VWF):c.4309G>A (p.Ala1437Thr)	SNV Germline	Chr12:6019109	Likely pathogenic	von Willebrand disease type 2 von Willebrand disease type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA228575	rs_61750084	6 SubmittersRCV002243741 RCV004760373 RCV000086752
NM_000552.5(VWF):c.4384C>G (p.Pro1462Ala)	SNV Germline	Chr12:6019034	Conflicting classifications of pathogenicity	Condition: not provided von Willebrand disease type 2	Criteria Provided Conflicting Classifications	CA228590	rs_61750090	3 SubmittersRCV000086760 RCV002466430
NM_000552.5(VWF):c.449T>C (p.Leu150Pro)	SNV Germline	Chr12:6110457	Likely pathogenic	Condition: not provided Hereditary von Willebrand disease von Willebrand disease type 3	Criteria Provided Single Submitter	CA228603	rs_61753994	4 SubmittersRCV000086768 RCV000851799 RCV001787058
NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu)	SNV Germline	Chr12:6018901	Pathogenic/Likely pathogenic	Condition: not provided Hereditary von Willebrand disease von Willebrand disease type 2 Von Willebrand disease type 2A	Criteria Provided Multiple Submitters No Conflicts	CA228615	rs_61750100	12 SubmittersRCV000086774 RCV000852128 RCV002222018 RCV004595920
NM_000552.5(VWF):c.4626C>G (p.Tyr1542Ter)	SNV Germline	Chr12:6018792	Pathogenic	Condition: not provided von Willebrand disease type 3	No Assertion Criteria Provided	CA228626	rs_267607343	2 SubmittersRCV000086781 RCV001787060
NM_000552.5(VWF):c.4628C>T (p.Ser1543Phe)	SNV Germline	Chr12:6018790	Pathogenic	Condition: not provided Hereditary von Willebrand disease	Criteria Provided Single Submitter	CA228628	rs_267607344	2 SubmittersRCV000086782 RCV002222391
NM_000552.5(VWF):c.4667A>G (p.Gln1556Arg)	SNV Germline	Chr12:6018751	Likely pathogenic	Condition: not provided von Willebrand disease type 2	Criteria Provided Single Submitter	CA228635	rs_61750110	2 SubmittersRCV000086786 RCV002264663
NM_000552.5(VWF):c.4717G>A (p.Gly1573Ser)	SNV Germline	Chr12:6018701	Likely pathogenic	Condition: not provided von Willebrand disease type 2	Criteria Provided Single Submitter	CA228643	rs_267607349	2 SubmittersRCV000086790 RCV002264664
NM_000552.5(VWF):c.4790G>A (p.Arg1597Gln)	SNV Germline	Chr12:6018628	Pathogenic	Condition: not provided Hereditary von Willebrand disease von Willebrand disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA228657	rs_61750577	4 SubmittersRCV000086799 RCV000852141 RCV002243742
NM_000552.5(VWF):c.4825G>A (p.Gly1609Arg)	SNV Germline	Chr12:6018593	Conflicting classifications of pathogenicity	Condition: not provided von Willebrand disease type 2 Hereditary von Willebrand disease	Criteria Provided Conflicting Classifications	CA228665	rs_61750580	4 SubmittersRCV000086804 RCV002243743 RCV003387760
NM_000552.5(VWF):c.4994T>A (p.Val1665Glu)	SNV Germline	Chr12:6018424	Likely pathogenic	Condition: not provided von Willebrand disease type 2	No Assertion Criteria Provided	CA228692	rs_61750596	2 SubmittersRCV000086822 RCV002243744
NM_000552.5(VWF):c.5170+10C>T	SNV Germline	Chr12:6016744	Conflicting classifications of pathogenicity	Hereditary von Willebrand disease von Willebrand disease type 3 not specified von Willebrand disease type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA228702	rs_61750601	9 SubmittersRCV001110727 RCV001787062 RCV001804838 RCV002264665 RCV000086828
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr)	SNV Germline	Chr12:6016636	Conflicting classifications of pathogenicity	Hereditary von Willebrand disease not specified von Willebrand disease type 2 VWF-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA228704	rs_61750603	11 SubmittersRCV000343743 RCV000826083 RCV002243746 RCV004549531 RCV000086830
NM_000552.5(VWF):c.5235G>T (p.Trp1745Cys)	SNV Germline	Chr12:6016592	Likely pathogenic	Condition: not provided von Willebrand disease type 2 von Willebrand disease type 2M	Reviewed By Expert Panel	CA228706	rs_267607352	3 SubmittersRCV000086831 RCV002271338 RCV004821273
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile)	SNV Germline	Chr12:6016549	Conflicting classifications of pathogenicity	Abnormality of coagulation not specified VWF-related disorder Hereditary von Willebrand disease Condition: not provided	Criteria Provided Conflicting Classifications	CA228708	rs_61750604	13 SubmittersRCV000852150 RCV001001933 RCV004549532 RCV004786367 RCV000086832
NM_000552.5(VWF):c.5321T>C (p.Leu1774Ser)	SNV Unknown	Chr12:6016223	Likely pathogenic	Condition: not provided Hereditary von Willebrand disease	Criteria Provided Single Submitter	CA228710	rs_61750605	2 SubmittersRCV000086833 RCV000852152
NM_000552.5(VWF):c.533-2A>G	SNV Germline	Chr12:6095586	Likely pathogenic	Condition: not provided von Willebrand disease type 3	No Assertion Criteria Provided	CA228712	rs_267607301	2 SubmittersRCV000086834 RCV001787063
NM_000552.5(VWF):c.5335C>T (p.Arg1779Ter)	SNV Germline	Chr12:6016209	Pathogenic	von Willebrand disease type 3 von Willebrand disease type 2 See cases von Willebrand disorder VWF-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA228713	rs_61750606	7 SubmittersRCV001787064 RCV003447496 RCV003156071 RCV004700406 RCV004549533 RCV000086835
NM_000552.5(VWF):c.5380A>G (p.Lys1794Glu)	SNV Germline	Chr12:6016164	Pathogenic	Condition: not provided von Willebrand disease type 1	Criteria Provided Single Submitter	CA228719	rs_267607355	2 SubmittersRCV000086838 RCV002264666
NM_000552.5(VWF):c.55G>A (p.Gly19Arg)	SNV Germline	Chr12:6123142	Conflicting classifications of pathogenicity	Condition: not provided von Willebrand disease type 1 not specified von Willebrand disease type 3	Criteria Provided Conflicting Classifications	CA228729	rs_61753983	4 SubmittersRCV000086844 RCV002264667 RCV003478999 RCV004771461
NM_000552.5(VWF):c.652C>T (p.Gln218Ter)	SNV Germline	Chr12:6095465	Pathogenic	Condition: not provided von Willebrand disease type 3	No Assertion Criteria Provided	CA228744	rs_62643623	2 SubmittersRCV000086853 RCV001787067
NM_000552.5(VWF):c.6536C>T (p.Ser2179Phe)	SNV Germline	Chr12:5993924	Likely pathogenic	Condition: not provided von Willebrand disease type 1	Criteria Provided Single Submitter	CA228746	rs_61750620	2 SubmittersRCV000086854 RCV002264668
NM_000552.5(VWF):c.666G>A (p.Trp222Ter)	SNV Germline	Chr12:6075543	Pathogenic	Condition: not provided von Willebrand disease type 3	No Assertion Criteria Provided	CA228753	rs_62643624	2 SubmittersRCV000086858 RCV001787068
NM_000552.5(VWF):c.6798+1G>T	SNV Germline	Chr12:5991818	Likely pathogenic	Condition: not provided Hereditary von Willebrand disease VWF-related disorder	Criteria Provided Single Submitter	CA228759	rs_61750624	3 SubmittersRCV000086861 RCV000851853 RCV004549534
NM_000552.5(VWF):c.6911G>A (p.Cys2304Tyr)	SNV Germline	Chr12:5985110	Pathogenic/Likely pathogenic	Condition: not provided von Willebrand disease type 3 von Willebrand disease type 1	Criteria Provided Multiple Submitters No Conflicts	CA228762	rs_61750626	4 SubmittersRCV000086863 RCV001787069 RCV002264669
NM_000552.5(VWF):c.7082-2A>G	SNV Germline	Chr12:5981993	Likely pathogenic	Condition: not provided von Willebrand disease type 3	No Assertion Criteria Provided	CA228773	rs_267607358	2 SubmittersRCV000086869 RCV001787070
NM_000552.5(VWF):c.7300C>T (p.Arg2434Ter)	SNV Germline	Chr12:5976248	Pathogenic	Condition: not provided von Willebrand disease type 3	No Assertion Criteria Provided	CA228781	rs_62643640	2 SubmittersRCV000086877 RCV001787072
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys)	SNV Germline	Chr12:5976158	Pathogenic/Likely pathogenic	Condition: not provided Hereditary von Willebrand disease Abnormal bleeding Thrombocytopenia von Willebrand disorder von Willebrand disease type 1	Criteria Provided Multiple Submitters No Conflicts	CA228786	rs_61751286	11 SubmittersRCV000086880 RCV000778374 RCV001270490 RCV004782236 RCV002264670
NM_000552.5(VWF):c.7408C>T (p.Gln2470Ter)	SNV Germline	Chr12:5976140	Pathogenic/Likely pathogenic	Condition: not provided Hereditary von Willebrand disease von Willebrand disease type 3	Criteria Provided Multiple Submitters No Conflicts	CA228790	rs_61751288	4 SubmittersRCV000086882 RCV000852206 RCV001787074
NM_000552.5(VWF):c.7437G>A (p.Ser2479=)	SNV Germline	Chr12:5976111	Pathogenic	Condition: not provided Hereditary von Willebrand disease	No Assertion Criteria Provided	CA228797	rs_267607363	2 SubmittersRCV000086886 RCV002243754
NM_000552.5(VWF):c.7630C>T (p.Gln2544Ter)	SNV Germline	Chr12:5969310	Pathogenic	Condition: not provided von Willebrand disease type 3	No Assertion Criteria Provided	CA228808	rs_61751297	2 SubmittersRCV000086893 RCV001787075
NM_000552.5(VWF):c.7636A>T (p.Asn2546Tyr)	SNV Germline	Chr12:5969304	Conflicting classifications of pathogenicity	von Willebrand disease type 3 von Willebrand disease type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA228810	rs_61751298	4 SubmittersRCV001787076 RCV002225289 RCV000086894
NM_000552.5(VWF):c.7729+7C>T	SNV Germline	Chr12:5969204	Likely pathogenic	Condition: not provided von Willebrand disease type 3 von Willebrand disorder	Criteria Provided Single Submitter	CA228815	rs_61751301	3 SubmittersRCV000086898 RCV001787079 RCV004700407
NM_000552.5(VWF):c.7730-1G>C	SNV Germline	Chr12:5968168	Likely pathogenic	Condition: not provided von Willebrand disease type 3	No Assertion Criteria Provided	CA228816	rs_267607366	2 SubmittersRCV000086899 RCV001787080
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met)	SNV Germline	Chr12:5953542	Conflicting classifications of pathogenicity	von Willebrand disease type 2 von Willebrand disease type 1 von Willebrand disease type 3 Hereditary von Willebrand disease von Willebrand disease type 1 von Willebrand disease type 3 VWF-related disorder not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA228819	rs_61751302	13 SubmittersRCV000765101 RCV000851886 RCV002225290 RCV002225291 RCV004739359 RCV004998226 RCV000086901
NM_000552.5(VWF):c.8012G>A (p.Cys2671Tyr)	SNV Germline	Chr12:5952494	Likely pathogenic	Condition: not provided von Willebrand disease type 3	No Assertion Criteria Provided	CA228821	rs_61751303	2 SubmittersRCV000086902 RCV001787081
NM_000552.5(VWF):c.8155+3G>C	SNV Germline	Chr12:5951841	Likely pathogenic	Condition: not provided von Willebrand disease type 3	No Assertion Criteria Provided	CA228825	rs_61751304	2 SubmittersRCV000086904 RCV001787082
NM_000552.5(VWF):c.817C>T (p.Arg273Trp)	SNV Germline	Chr12:6075392	Pathogenic	Condition: not provided von Willebrand disease type 1 Hereditary von Willebrand disease VWF-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA228829	rs_61753997	5 SubmittersRCV000086907 RCV003313936 RCV003398701 RCV004739360
NM_000552.5(VWF):c.8216G>A (p.Cys2739Tyr)	SNV Germline	Chr12:5949823	Likely pathogenic	Condition: not provided von Willebrand disease type 3	No Assertion Criteria Provided	CA228832	rs_61751305	2 SubmittersRCV000086909 RCV001787083
NM_000552.5(VWF):c.823T>A (p.Cys275Ser)	SNV Germline	Chr12:6075386	Likely pathogenic	Condition: not provided von Willebrand disease type 3	No Assertion Criteria Provided	CA228834	rs_61753998	2 SubmittersRCV000086910 RCV001787084
NM_000552.5(VWF):c.823T>C (p.Cys275Arg)	SNV Germline	Chr12:6075386	Likely pathogenic	Condition: not provided von Willebrand disease type 2	No Assertion Criteria Provided	CA228836	rs_61753998	2 SubmittersRCV000086911 RCV002243755
NM_000552.5(VWF):c.8318G>C (p.Cys2773Ser)	SNV Germline	Chr12:5949139	Pathogenic	Condition: not provided Von Willebrand disease type 2A	Reviewed By Expert Panel	CA228847	rs_61751311	2 SubmittersRCV000086918 RCV004821275
NM_000552.5(VWF):c.970C>T (p.Arg324Ter)	SNV Germline	Chr12:6073646	Pathogenic	Condition: not provided von Willebrand disease type 3 von Willebrand disease type 1 Hereditary von Willebrand disease	Reviewed By Expert Panel	CA228862	rs_61754000	6 SubmittersRCV000086927 RCV001787087 RCV002280872 RCV002243756
NM_000552.5(VWF):c.7887+12T>C	SNV Germline	Chr12:5967474	Conflicting classifications of pathogenicity	Hereditary von Willebrand disease not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA6401485	rs_55687637	6 SubmittersRCV000284400 RCV000251911 RCV002274956
NM_000552.5(VWF):c.3789G>A (p.Ser1263=)	SNV Germline	Chr12:6019629	Conflicting classifications of pathogenicity	not specified Condition: not provided von Willebrand disease type 3 von Willebrand disease type 2 von Willebrand disease type 1	Criteria Provided Conflicting Classifications	CA6402669	rs_199831474	10 SubmittersRCV000247036 RCV000760121 RCV002244004 RCV002244005 RCV002244003
NM_000552.5(VWF):c.546G>A (p.Ser182=)	SNV Germline	Chr12:6095571	Conflicting classifications of pathogenicity	not specified Condition: not provided von Willebrand disease type 2 von Willebrand disease type 1	Criteria Provided Conflicting Classifications	CA6403759	rs_143054357	7 SubmittersRCV000244211 RCV000986077 RCV001843502 RCV002280875
NM_000552.5(VWF):c.5049A>C (p.Ala1683=)	SNV Germline	Chr12:6018369	Conflicting classifications of pathogenicity	Hereditary von Willebrand disease Condition: not provided not specified von Willebrand disease type 2	Criteria Provided Conflicting Classifications	CA10604008	rs_79275181	5 SubmittersRCV000291213 RCV000307103 RCV001820811 RCV004816481
NM_000552.5(VWF):c.7362C>T (p.Thr2454=)	SNV Germline	Chr12:5976186	Conflicting classifications of pathogenicity	Hereditary von Willebrand disease Condition: not provided	Criteria Provided Conflicting Classifications	CA6401694	rs_146504585	2 SubmittersRCV000402193 RCV003477885
NM_000552.5(VWF):c.5277C>T (p.Asp1759=)	SNV Germline	Chr12:6016550	Conflicting classifications of pathogenicity	Hereditary von Willebrand disease Condition: not provided	Criteria Provided Conflicting Classifications	CA6402333	rs_41276736	4 SubmittersRCV000383234 RCV000760126
NM_000552.5(VWF):c.2103C>T (p.Cys701=)	SNV Germline	Chr12:6052626	Conflicting classifications of pathogenicity	Hereditary von Willebrand disease Condition: not provided	Criteria Provided Conflicting Classifications	CA6403175	rs_78995469	2 SubmittersRCV000317855 RCV000986063
NM_000552.5(VWF):c.1596C>T (p.Gly532=)	SNV Germline	Chr12:6057982	Conflicting classifications of pathogenicity	Hereditary von Willebrand disease Condition: not provided VWF-related disorder not specified	Criteria Provided Conflicting Classifications	CA6403333	rs_111240043	4 SubmittersRCV000308809 RCV000986059 RCV004549678 RCV004999288
NM_000552.5(VWF):c.1077C>T (p.Pro359=)	SNV Germline	Chr12:6072363	Conflicting classifications of pathogenicity	Hereditary von Willebrand disease Condition: not provided	Criteria Provided Conflicting Classifications	CA6403568	rs_71582884	3 SubmittersRCV000261868 RCV000760106
NM_000552.5(VWF):c.6756G>A (p.Glu2252=)	SNV Germline	Chr12:5991861	Conflicting classifications of pathogenicity	Hereditary von Willebrand disease VWF-related disorder not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA6401921	rs_71581020	5 SubmittersRCV000385378 RCV004549677 RCV001820915 RCV003389643
NM_000552.5(VWF):c.3720G>A (p.Pro1240=)	SNV Germline	Chr12:6019698	Conflicting classifications of pathogenicity	Hereditary von Willebrand disease not specified	Criteria Provided Conflicting Classifications	CA6402691	rs_141792415	2 SubmittersRCV000275030 RCV004782352
NM_000552.5(VWF):c.2281+13C>T	SNV Germline	Chr12:6046710	Conflicting classifications of pathogenicity	not specified Hereditary von Willebrand disease	Criteria Provided Conflicting Classifications	CA6403127	rs_183077797	2 SubmittersRCV004800382 RCV000362085
NM_000552.5(VWF):c.2025G>A (p.Pro675=)	SNV Germline	Chr12:6052704	Conflicting classifications of pathogenicity	Hereditary von Willebrand disease Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA6403196	rs_779045480	5 SubmittersRCV000372026 RCV000986062 RCV003987503
NM_000552.5(VWF):c.858C>T (p.Thr286=)	SNV Germline	Chr12:6075351	Conflicting classifications of pathogenicity	Hereditary von Willebrand disease Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA6403671	rs_776206258	3 SubmittersRCV000277342 RCV000994823 RCV003151022
NM_000552.5(VWF):c.8160G>A (p.Glu2720=)	SNV Germline	Chr12:5949879	Conflicting classifications of pathogenicity	Hereditary von Willebrand disease VWF-related disorder not specified	Criteria Provided Conflicting Classifications	CA6401365	rs_368802960	3 SubmittersRCV000272380 RCV004549676 RCV004525919
NM_000552.5(VWF):c.7800C>T (p.Cys2600=)	SNV Germline	Chr12:5967573	Conflicting classifications of pathogenicity	Hereditary von Willebrand disease not specified	Criteria Provided Conflicting Classifications	CA6401508	rs_200209213	2 SubmittersRCV000337134 RCV004586679
NM_000552.5(VWF):c.7698G>A (p.Lys2566=)	SNV Germline	Chr12:5969242	Conflicting classifications of pathogenicity	Hereditary von Willebrand disease Condition: not provided	Criteria Provided Conflicting Classifications	CA6401585	rs_16932285	3 SubmittersRCV000314885 RCV003477884
NM_000552.5(VWF):c.7082-13G>C	SNV Germline	Chr12:5982004	Conflicting classifications of pathogenicity	Hereditary von Willebrand disease Condition: not provided von Willebrand disease type 3 not specified	Criteria Provided Conflicting Classifications	CA6401767	rs_71581025	5 SubmittersRCV000323341 RCV000994797 RCV001787096 RCV003987502
NM_000552.5(VWF):c.3719C>T (p.Pro1240Leu)	SNV Germline	Chr12:6019699	Conflicting classifications of pathogenicity	Hereditary von Willebrand disease Condition: not provided	Criteria Provided Conflicting Classifications	CA6402693	rs_150576611	4 SubmittersRCV000327886 RCV001284371
NM_000552.5(VWF):c.114C>T (p.Phe38=)	SNV Germline	Chr12:6121280	Conflicting classifications of pathogenicity	Hereditary von Willebrand disease not specified Condition: not provided VWF-related disorder	Criteria Provided Conflicting Classifications	CA6403892	rs_2229443	8 SubmittersRCV000377882 RCV000504545 RCV000994825 RCV004549679
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro)	SNV Germline	Chr12:5952518	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary von Willebrand disease Abnormality of coagulation Abnormal bleeding Thrombocytopenia von Willebrand disease type 1	Criteria Provided Conflicting Classifications	CA6401423	rs_149834874	12 SubmittersRCV000413262 RCV000986090 RCV000778372 RCV000851890 RCV001270575 RCV002280878
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly)	SNV Germline	Chr12:6057953	Conflicting classifications of pathogenicity	Condition: not provided von Willebrand disease type 2 von Willebrand disease type 1 von Willebrand disease type 3 Hereditary von Willebrand disease von Willebrand disease type 1 von Willebrand disease type 2 not specified VWF-related disorder	Criteria Provided Conflicting Classifications	CA6403319	rs_141649383	10 SubmittersRCV000760113 RCV000765104 RCV000852047 RCV002264696 RCV003147455 RCV003323534 RCV004551444
NM_000552.5(VWF):c.4247T>C (p.Ile1416Thr)	SNV Germline	Chr12:6019171	Pathogenic/Likely pathogenic	Condition: not provided Hereditary von Willebrand disease von Willebrand disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA383503536	rs_61750081	5 SubmittersRCV000506329 RCV001563671 RCV003447537
NM_000552.5(VWF):c.3613C>T (p.Arg1205Cys)	SNV Germline	Chr12:6021961	Pathogenic/Likely pathogenic	Hereditary von Willebrand disease Condition: not provided von Willebrand disorder	Criteria Provided Multiple Submitters No Conflicts	CA6402724	rs_373787920	5 SubmittersRCV000851647 RCV002274046 RCV004701576
NM_000552.5(VWF):c.4496T>A (p.Val1499Glu)	SNV Germline	Chr12:6018922	Pathogenic	not specified von Willebrand disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA383501687	rs_1555194979	2 SubmittersRCV000506081 RCV002264704
NM_000552.5(VWF):c.4457C>T (p.Ser1486Leu)	SNV Germline	Chr12:6018961	Conflicting classifications of pathogenicity	Hereditary von Willebrand disease Condition: not provided not specified von Willebrand disease type 1	Criteria Provided Conflicting Classifications		rs_149424724	6 SubmittersRCV000678771 RCV000986075 RCV001816687 RCV003313787
NM_000552.5(VWF):c.5851A>G (p.Thr1951Ala)	SNV Germline	Chr12:5996214	Conflicting classifications of pathogenicity	Abnormality of coagulation Condition: not provided von Willebrand disease type 3 von Willebrand disease type 1 not specified von Willebrand disease type 2 Hereditary von Willebrand disease	Criteria Provided Conflicting Classifications		rs_144072210	8 SubmittersRCV000852162 RCV000994803 RCV001787107 RCV002264731 RCV002469281 RCV003147542 RCV004788158
NM_000552.5(VWF):c.7732C>T (p.Arg2578Cys)	SNV Germline	Chr12:5968165	Conflicting classifications of pathogenicity	Hereditary von Willebrand disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_369970893	2 SubmittersRCV000852210 RCV004792445
NM_000552.5(VWF):c.7493C>A (p.Ala2498Asp)	SNV Germline	Chr12:5971654	Conflicting classifications of pathogenicity	Hereditary von Willebrand disease Condition: not provided von Willebrand disease type 1 VWF-related disorder not specified	Criteria Provided Conflicting Classifications		rs_369669154	6 SubmittersRCV000851866 RCV001796780 RCV002264735 RCV004549842 RCV003226384
NM_000552.5(VWF):c.7450G>A (p.Val2484Ile)	SNV Unknown	Chr12:5971697	Likely pathogenic	Hereditary von Willebrand disease	Criteria Provided Single Submitter		rs_139864572	1 SubmittersRCV000851865
NM_000552.5(VWF):c.7399C>T (p.Gln2467Ter)	SNV Unknown	Chr12:5976149	Likely pathogenic	von Willebrand disease type 3	Criteria Provided Single Submitter		rs_1591838792	1 SubmittersRCV001787113
NM_000552.5(VWF):c.7352G>A (p.Cys2451Tyr)	SNV Unknown	Chr12:5976196	Likely pathogenic	Hereditary von Willebrand disease	Criteria Provided Single Submitter		rs_1591838833	1 SubmittersRCV000852203
NM_000552.5(VWF):c.7080C>A (p.Cys2360Ter)	SNV Germline	Chr12:5983151	Pathogenic	Abnormality of coagulation von Willebrand disease type 1	Criteria Provided Multiple Submitters No Conflicts		rs_111597150	2 SubmittersRCV000852194 RCV002264740
NM_000552.5(VWF):c.6488G>A (p.Cys2163Tyr)	SNV Unknown	Chr12:5993972	Likely pathogenic	Hereditary von Willebrand disease	Criteria Provided Single Submitter		rs_1591848387	1 SubmittersRCV000851607
NM_000552.5(VWF):c.5801T>G (p.Val1934Gly)	SNV Germline	Chr12:6011658	Conflicting classifications of pathogenicity	Hereditary von Willebrand disease See cases von Willebrand disease type 1	Criteria Provided Conflicting Classifications		rs_139845585	3 SubmittersRCV000852160 RCV004584411 RCV002264738
NM_000552.5(VWF):c.5471C>G (p.Pro1824Arg)	SNV Unknown	Chr12:6013630	Likely pathogenic	Hereditary von Willebrand disease	Criteria Provided Single Submitter		rs_61750610	1 SubmittersRCV000852158
NM_000552.5(VWF):c.4931G>A (p.Trp1644Ter)	SNV Germline	Chr12:6018487	Pathogenic/Likely pathogenic	Hereditary von Willebrand disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1591862022	2 SubmittersRCV000851803 RCV001811479
NM_000552.5(VWF):c.4637T>G (p.Val1546Gly)	SNV Unknown	Chr12:6018781	Likely pathogenic	von Willebrand disease type 2	Criteria Provided Single Submitter		rs_1591862366	1 SubmittersRCV000852134
NM_000552.5(VWF):c.4146G>T (p.Leu1382=)	SNV Germline	Chr12:6019272	Conflicting classifications of pathogenicity	Inborn genetic diseases Hereditary von Willebrand disease not specified Condition: not provided	Criteria Provided Conflicting Classifications		rs_140464171	4 SubmittersRCV003344034 RCV000852117 RCV003396341 RCV003478455
NM_000552.5(VWF):c.4105T>C (p.Phe1369Leu)	SNV Unknown	Chr12:6019313	Likely pathogenic	Hereditary von Willebrand disease	Criteria Provided Single Submitter		rs_61750069	1 SubmittersRCV000852114
NM_000552.5(VWF):c.3962A>G (p.Tyr1321Cys)	SNV Germline	Chr12:6019456	Likely pathogenic	von Willebrand disease type 2	Criteria Provided Single Submitter		rs_1591863294	2 SubmittersRCV000851773
NM_000552.5(VWF):c.3842T>C (p.Leu1281Pro)	SNV Unknown	Chr12:6019576	Conflicting classifications of pathogenicity	von Willebrand disease type 2 von Willebrand disease type 1	Criteria Provided Conflicting Classifications		rs_1591863438	2 SubmittersRCV000851985 RCV002222051
NM_000552.5(VWF):c.3569G>A (p.Cys1190Tyr)	SNV Germline	Chr12:6022005	Conflicting classifications of pathogenicity	Reduced von Willebrand factor activity von Willebrand disease type 2 von Willebrand disease type 1 not specified	Criteria Provided Conflicting Classifications		rs_1591865026	4 SubmittersRCV001003907 RCV000851644 RCV002222625 RCV003317360
NM_000552.5(VWF):c.3390C>T (p.Cys1130=)	SNV Germline	Chr12:6022888	Pathogenic/Likely pathogenic	von Willebrand disease type 1 von Willebrand disease type 2 Condition: not provided von Willebrand disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1591865617	7 SubmittersRCV000851955 RCV002245652 RCV003478454 RCV004782541
NM_000552.5(VWF):c.2921G>A (p.Trp974Ter)	SNV Unknown	Chr12:6029388	Pathogenic	Hereditary von Willebrand disease	Criteria Provided Single Submitter		rs_1591870340	1 SubmittersRCV000851766
NM_000552.5(VWF):c.2060G>A (p.Cys687Tyr)	SNV Unknown	Chr12:6052669	Likely pathogenic	von Willebrand disease type 1	Criteria Provided Single Submitter		rs_1591886521	1 SubmittersRCV000851736
NM_000552.5(VWF):c.1974C>G (p.Tyr658Ter)	SNV Unknown	Chr12:6052755	Likely pathogenic	Hereditary von Willebrand disease	Criteria Provided Single Submitter		rs_761288966	1 SubmittersRCV000851729
NM_000552.5(VWF):c.1607T>C (p.Leu536Pro)	SNV Germline	Chr12:6057971	Likely pathogenic	Hereditary von Willebrand disease von Willebrand disease type 2	Criteria Provided Multiple Submitters No Conflicts		rs_1591890769	3 SubmittersRCV000852041 RCV002264736
NM_000552.5(VWF):c.993C>A (p.Cys331Ter)	SNV Unknown	Chr12:6073623	Likely pathogenic	Hereditary von Willebrand disease	Criteria Provided Single Submitter		rs_147924974	1 SubmittersRCV000851924
NM_000552.5(VWF):c.7730-1G>T	SNV Unknown	Chr12:5968168	Likely pathogenic	von Willebrand disease type 3 von Willebrand disease type 1	Criteria Provided Single Submitter		rs_267607366	1 SubmittersRCV001787114 RCV000852208
NM_000552.5(VWF):c.3675-1G>A	SNV Germline	Chr12:6019744	Likely pathogenic	von Willebrand disease type 3	Criteria Provided Single Submitter		rs_746457842	2 SubmittersRCV001787111
NM_000552.5(VWF):c.1293+2T>C	SNV Unknown	Chr12:6065135	Likely pathogenic	Hereditary von Willebrand disease	Criteria Provided Single Submitter		rs_1591895879	1 SubmittersRCV000852007
NM_000552.5(VWF):c.658-3C>A	SNV Germline	Chr12:6075554	Conflicting classifications of pathogenicity	Hereditary von Willebrand disease Reduced von Willebrand factor activity Reduced quantity of Von Willebrand factor Condition: not provided von Willebrand disease type 3 not specified von Willebrand disease type 1 von Willebrand disease type 3	Criteria Provided Conflicting Classifications		rs_377196768	6 SubmittersRCV000851609 RCV001003908 RCV000986085 RCV002466578 RCV003226383 RCV004596335
NM_000552.5(VWF):c.8052C>A (p.Tyr2684Ter)	SNV Germline	Chr12:5952454	Conflicting classifications of pathogenicity	Hereditary von Willebrand disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_1565806829	2 SubmittersRCV000778371 RCV004997302
NM_000552.5(VWF):c.7056C>T (p.Gly2352=)	SNV Germline	Chr12:5983175	Likely pathogenic	Hereditary von Willebrand disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_746482504	2 SubmittersRCV000778375 RCV004997303
NM_000552.5(VWF):c.2303G>A (p.Arg768Gln)	SNV Germline	Chr12:6044430	Likely pathogenic	Hereditary von Willebrand disease	Criteria Provided Single Submitter		rs_772203447	1 SubmittersRCV000778379
NM_000552.5(VWF):c.7393G>A (p.Val2465Met)	SNV Unknown	Chr12:5976155	Likely pathogenic	von Willebrand disease type 2	Criteria Provided Single Submitter		rs_375655409	1 SubmittersRCV003333329
NM_000552.5(VWF):c.4690C>T (p.Arg1564Trp)	SNV Germline	Chr12:6018728	Conflicting classifications of pathogenicity	not specified von Willebrand disease type 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_370854023	3 SubmittersRCV001001989 RCV003447571 RCV004720028
NM_000552.5(VWF):c.4580G>A (p.Arg1527Gln)	SNV Germline	Chr12:6018838	Conflicting classifications of pathogenicity	von Willebrand disease type 1	Criteria Provided Conflicting Classifications		rs_780538558	2 SubmittersRCV001027679
NM_000552.5(VWF):c.55+15G>A	SNV Germline	Chr12:6123127	Conflicting classifications of pathogenicity	Hereditary von Willebrand disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_201377447	2 SubmittersRCV001110387 RCV003736980
NM_000552.5(VWF):c.7770+1G>T	SNV Germline	Chr12:5968126	Pathogenic	von Willebrand disease type 2 von Willebrand disease type 3	Criteria Provided Single Submitter		rs_200770256	2 SubmittersRCV001197641 RCV001787125
NM_000552.5(VWF):c.3692A>G (p.Asn1231Ser)	SNV Germline	Chr12:6019726	Conflicting classifications of pathogenicity	von Willebrand disease type 3 not specified Condition: not provided von Willebrand disease type 1 Hereditary von Willebrand disease	Criteria Provided Conflicting Classifications		rs_61749368	8 SubmittersRCV001787126 RCV001824942 RCV002225814 RCV002280902 RCV003447581
NM_000552.5(VWF):c.7580C>A (p.Pro2527His)	SNV Unknown	Chr12:5969360	Likely pathogenic	von Willebrand disease type 1	No Assertion Criteria Provided		rs_1943442849	1 SubmittersRCV001260928
NM_000552.5(VWF):c.338A>G (p.Tyr113Cys)	SNV Germline	Chr12:6110568	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases von Willebrand disease type 1 not specified	Criteria Provided Conflicting Classifications		rs_374854636	4 SubmittersRCV001284260 RCV002537931 RCV003989670 RCV004800961
NM_000552.5(VWF):c.5235G>A (p.Trp1745Ter)	SNV Unknown	Chr12:6016592	Pathogenic	von Willebrand disease type 3	Criteria Provided Single Submitter		rs_267607352	1 SubmittersRCV001787130
NM_000552.5(VWF):c.8155+6T>C	SNV Germline	Chr12:5951838	Conflicting classifications of pathogenicity	von Willebrand disease type 3 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1223422347	3 SubmittersRCV001787143 RCV004699348
NM_000552.5(VWF):c.8155+1G>T	SNV Germline	Chr12:5951843	Likely pathogenic	von Willebrand disease type 3	No Assertion Criteria Provided		rs_1943194455	1 SubmittersRCV001787141
NM_000552.5(VWF):c.7887+2T>A	SNV Germline	Chr12:5967484	Conflicting classifications of pathogenicity	von Willebrand disease type 1 Condition: not provided von Willebrand disease type 3 Hereditary von Willebrand disease	Criteria Provided Conflicting Classifications		rs_113814258	4 SubmittersRCV002222706 RCV001751744 RCV001787140 RCV003399190
NM_000552.5(VWF):c.7514C>A (p.Ser2505Ter)	SNV Germline	Chr12:5971633	Pathogenic	von Willebrand disease type 3	No Assertion Criteria Provided		rs_2136358550	1 SubmittersRCV001787223
NM_000552.5(VWF):c.6973T>A (p.Cys2325Ser)	SNV Germline	Chr12:5985048	Likely pathogenic	von Willebrand disease type 3	No Assertion Criteria Provided		rs_1256082707	1 SubmittersRCV001787209
NM_000552.5(VWF):c.6847T>C (p.Cys2283Arg)	SNV Germline	Chr12:5985617	Likely pathogenic	von Willebrand disease type 3	No Assertion Criteria Provided		rs_2136376158	1 SubmittersRCV001787206
NM_000552.5(VWF):c.6551G>C (p.Cys2184Ser)	SNV Germline	Chr12:5993909	Likely pathogenic	von Willebrand disease type 3	No Assertion Criteria Provided		rs_2136385288	1 SubmittersRCV001787203
NM_000552.5(VWF):c.6236C>G (p.Ser2079Ter)	SNV Germline	Chr12:5994435	Pathogenic	von Willebrand disease type 3	No Assertion Criteria Provided		rs_2136385927	1 SubmittersRCV001787201
NM_000552.5(VWF):c.5791C>T (p.Gln1931Ter)	SNV Germline	Chr12:6011668	Pathogenic	von Willebrand disease type 3	No Assertion Criteria Provided		rs_1359172781	1 SubmittersRCV001787183
NM_000552.5(VWF):c.5170+1G>A	SNV Germline	Chr12:6016753	Likely pathogenic	von Willebrand disease type 3 Hereditary von Willebrand disease	Criteria Provided Single Submitter		rs_764543553	2 SubmittersRCV001787178 RCV003399191
NM_000552.5(VWF):c.5096C>T (p.Ser1699Phe)	SNV Germline	Chr12:6016828	Likely pathogenic	von Willebrand disease type 3 von Willebrand disease type 2	Criteria Provided Single Submitter		rs_2136409487	2 SubmittersRCV001787176 RCV002264781
NM_000552.5(VWF):c.4978G>T (p.Glu1660Ter)	SNV Germline	Chr12:6018440	Pathogenic	von Willebrand disease type 3	No Assertion Criteria Provided		rs_2136411489	1 SubmittersRCV001787139
NM_000552.5(VWF):c.4792G>T (p.Glu1598Ter)	SNV Germline	Chr12:6018626	Pathogenic	von Willebrand disease type 3	No Assertion Criteria Provided		rs_753701755	1 SubmittersRCV001787138
NM_000552.5(VWF):c.3360G>A (p.Trp1120Ter)	SNV Germline	Chr12:6023650	Pathogenic	von Willebrand disease type 3	No Assertion Criteria Provided		rs_2136418333	1 SubmittersRCV001787217
NM_000552.5(VWF):c.2902A>T (p.Lys968Ter)	SNV Germline	Chr12:6029407	Pathogenic	von Willebrand disease type 3	No Assertion Criteria Provided		rs_1944232310	1 SubmittersRCV001787211
NM_000552.5(VWF):c.2753C>G (p.Ser918Ter)	SNV Germline	Chr12:6031511	Pathogenic	von Willebrand disease type 3	No Assertion Criteria Provided		rs_2136426808	1 SubmittersRCV001787210
NM_000552.5(VWF):c.2430C>A (p.Cys810Ter)	SNV Germline	Chr12:6044303	Pathogenic	von Willebrand disease type 3	No Assertion Criteria Provided		rs_746648486	1 SubmittersRCV001787197
NM_000552.5(VWF):c.2377C>T (p.Gln793Ter)	SNV Germline	Chr12:6044356	Pathogenic	von Willebrand disease type 3 Condition: not provided	Criteria Provided Single Submitter		rs_2136440316	2 SubmittersRCV001787193 RCV003478805
NM_000552.5(VWF):c.2376C>G (p.Cys792Trp)	SNV Germline	Chr12:6044357	Likely pathogenic	von Willebrand disease type 3	No Assertion Criteria Provided		rs_2136440319	1 SubmittersRCV001787192
NM_000552.5(VWF):c.1693C>T (p.Gln565Ter)	SNV Germline	Chr12:6057885	Pathogenic	von Willebrand disease type 3	No Assertion Criteria Provided		rs_750364485	1 SubmittersRCV001787166
NM_000552.5(VWF):c.1659G>A (p.Trp553Ter)	SNV Germline	Chr12:6057919	Pathogenic	von Willebrand disease type 3	No Assertion Criteria Provided		rs_2136455808	1 SubmittersRCV001787165
NM_000552.5(VWF):c.1320C>A (p.Cys440Ter)	SNV Germline	Chr12:6064358	Pathogenic	von Willebrand disease type 3	No Assertion Criteria Provided		rs_1381910966	1 SubmittersRCV001787162
NM_000552.5(VWF):c.1130G>A (p.Trp377Ter)	SNV Germline	Chr12:6071323	Pathogenic	von Willebrand disease type 3	No Assertion Criteria Provided		rs_1321160729	1 SubmittersRCV001787160
NM_000552.5(VWF):c.1116C>A (p.Cys372Ter)	SNV Germline	Chr12:6071337	Pathogenic	von Willebrand disease type 3	No Assertion Criteria Provided		rs_1250492485	1 SubmittersRCV001787159
NM_000552.5(VWF):c.646G>T (p.Glu216Ter)	SNV Germline	Chr12:6095471	Pathogenic	von Willebrand disease type 3	No Assertion Criteria Provided		rs_767837153	1 SubmittersRCV001787202
NM_000552.5(VWF):c.592C>T (p.Gln198Ter)	SNV Germline	Chr12:6095525	Likely pathogenic	von Willebrand disease type 3	No Assertion Criteria Provided		rs_2136500386	1 SubmittersRCV001787184
NM_000552.5(VWF):c.310C>T (p.Gln104Ter)	SNV Germline	Chr12:6110879	Pathogenic	von Willebrand disease type 3	No Assertion Criteria Provided		rs_2136522699	1 SubmittersRCV001787213
NM_000552.5(VWF):c.229C>T (p.Gln77Ter)	SNV Germline	Chr12:6110960	Pathogenic	von Willebrand disease type 3	No Assertion Criteria Provided		rs_2136522827	1 SubmittersRCV001787188
NM_000552.5(VWF):c.2981G>T (p.Gly994Val)	SNV Germline	Chr12:6026033	Conflicting classifications of pathogenicity	von Willebrand disease type 1 Heterotopia, periventricular, X-linked dominant	Criteria Provided Conflicting Classifications		rs_1591867991	1 SubmittersRCV001420364 RCV004813172
NM_000552.5(VWF):c.1730-1G>T	SNV Germline	Chr12:6057073	Pathogenic	von Willebrand disease type 1	Criteria Provided Single Submitter		rs_1591889534	1 SubmittersRCV001420369
NM_000552.5(VWF):c.1110-1G>T	SNV Germline	Chr12:6071344	Pathogenic	von Willebrand disease type 1	Criteria Provided Single Submitter		rs_61754005	1 SubmittersRCV001420370
NM_000552.5(VWF):c.221-2A>C	SNV Germline	Chr12:6110970	Pathogenic	von Willebrand disease type 1	No Assertion Criteria Provided		rs_1195620730	1 SubmittersRCV001774767
NM_000552.5(VWF):c.6535T>C (p.Ser2179Pro)	SNV Germline	Chr12:5993925	Pathogenic	von Willebrand disease type 1	No Assertion Criteria Provided		rs_2136385329	1 SubmittersRCV001774768
NM_000552.5(VWF):c.322A>T (p.Arg108Ter)	SNV Germline	Chr12:6110867	Pathogenic	von Willebrand disease type 1	No Assertion Criteria Provided		rs_2136522667	1 SubmittersRCV001774769
NM_000552.5(VWF):c.323+1G>T	SNV Germline	Chr12:6110865	Pathogenic	von Willebrand disease type 1	No Assertion Criteria Provided		rs_2136522662	1 SubmittersRCV001774770
NM_000552.5(VWF):c.2547-13T>A	SNV Germline	Chr12:6034839	Pathogenic	von Willebrand disease type 1	No Assertion Criteria Provided		rs_2136430770	1 SubmittersRCV001774772
NM_000552.5(VWF):c.2684A>G (p.Gln895Arg)	SNV Germline	Chr12:6034689	Pathogenic	von Willebrand disease type 1	No Assertion Criteria Provided		rs_2136430552	1 SubmittersRCV001774773
NM_000552.5(VWF):c.2968-14A>G	SNV Germline	Chr12:6026060	Pathogenic	von Willebrand disease type 1	No Assertion Criteria Provided		rs_1201852829	1 SubmittersRCV001774774
NM_000552.5(VWF):c.4892G>A (p.Gly1631Asp)	SNV Germline	Chr12:6018526	Pathogenic/Likely pathogenic	von Willebrand disease type 1 von Willebrand disease type 2	Criteria Provided Multiple Submitters No Conflicts		rs_2136411659	3 SubmittersRCV001838831 RCV002243467
NM_000552.5(VWF):c.6551G>A (p.Cys2184Tyr)	SNV Germline	Chr12:5993909	Likely pathogenic	von Willebrand disease type 1	Criteria Provided Multiple Submitters No Conflicts		rs_2136385288	2 SubmittersRCV002223126
NM_000552.5(VWF):c.3923G>T (p.Arg1308Leu)	SNV Germline	Chr12:6019495	Likely pathogenic	Hereditary von Willebrand disease von Willebrand disease type 2	No Assertion Criteria Provided		rs_61749388	2 SubmittersRCV002227921 RCV002243531
NM_000552.5(VWF):c.4551C>G (p.Ser1517Arg)	SNV Germline	Chr12:6018867	Likely pathogenic	von Willebrand disease type 2	No Assertion Criteria Provided		rs_2136412350	1 SubmittersRCV002244520
NM_000552.5(VWF):c.4733C>A (p.Thr1578Asn)	SNV Germline	Chr12:6018685	Pathogenic	von Willebrand disease type 2	No Assertion Criteria Provided		rs_2136411988	1 SubmittersRCV002244521
NM_000552.5(VWF):c.3389G>A (p.Cys1130Tyr)	SNV Germline	Chr12:6022889	Likely pathogenic	von Willebrand disease type 2	Criteria Provided Single Submitter		rs_267607324	2 SubmittersRCV002244523
NM_000552.5(VWF):c.4885G>C (p.Gly1629Arg)	SNV Germline	Chr12:6018533	Likely pathogenic	von Willebrand disease type 2	No Assertion Criteria Provided		rs_61750585	1 SubmittersRCV002244527
NM_000552.5(VWF):c.2546G>A (p.Cys849Tyr)	SNV Germline	Chr12:6036388	Likely pathogenic	von Willebrand disease type 2 Von Willebrand disease type 2A	Reviewed By Expert Panel		rs_772796741	2 SubmittersRCV002244528 RCV004821325
NM_000552.5(VWF):c.3515G>T (p.Gly1172Val)	SNV Germline	Chr12:6022763	Likely pathogenic	von Willebrand disease type 2	No Assertion Criteria Provided		rs_1555195293	1 SubmittersRCV002244529
NM_000552.5(VWF):c.3928T>C (p.Ser1310Pro)	SNV Germline	Chr12:6019490	Likely pathogenic	von Willebrand disease type 2	No Assertion Criteria Provided		rs_2136413535	1 SubmittersRCV002244530
NM_000552.5(VWF):c.5146G>C (p.Ala1716Pro)	SNV Germline	Chr12:6016778	Likely pathogenic	von Willebrand disease type 2 von Willebrand disease type 1	Criteria Provided Single Submitter		rs_1194776238	2 SubmittersRCV002244536 RCV002264839
NM_000552.5(VWF):c.4883T>A (p.Ile1628Asn)	SNV Germline	Chr12:6018535	Pathogenic	von Willebrand disease type 2	No Assertion Criteria Provided		rs_61750584	1 SubmittersRCV002244540
NM_000552.5(VWF):c.2546+3G>C	SNV Germline	Chr12:6036385	Likely pathogenic	von Willebrand disease type 2	No Assertion Criteria Provided		rs_1565838728	1 SubmittersRCV002244541
NM_000552.5(VWF):c.3380-2A>G	SNV Germline	Chr12:6022900	Pathogenic	von Willebrand disease type 2	No Assertion Criteria Provided		rs_2136417619	1 SubmittersRCV002244542
NM_000552.5(VWF):c.4970T>C (p.Leu1657Pro)	SNV Germline	Chr12:6018448	Likely pathogenic	von Willebrand disease type 2	No Assertion Criteria Provided		rs_61750593	1 SubmittersRCV002244552
NM_000552.5(VWF):c.5087T>G (p.Leu1696Arg)	SNV Germline	Chr12:6016837	Likely pathogenic	Hereditary von Willebrand disease von Willebrand disease type 1	Criteria Provided Single Submitter		rs_2136409514	1 SubmittersRCV002245486 RCV003313799
NM_000552.5(VWF):c.3926T>A (p.Ile1309Asn)	SNV Unknown	Chr12:6019492	Likely pathogenic	Hereditary von Willebrand disease	No Assertion Criteria Provided		rs_2136413547	1 SubmittersRCV002245489
NM_000552.5(VWF):c.5793G>C (p.Gln1931His)	SNV Germline	Chr12:6011666	Pathogenic	von Willebrand disease type 1	Criteria Provided Single Submitter		rs_574811308	1 SubmittersRCV002246810
NM_000552.5(VWF):c.4276C>A (p.Arg1426Ser)	SNV Unknown	Chr12:6019142	Likely pathogenic	Hereditary von Willebrand disease	No Assertion Criteria Provided		rs_555366738	1 SubmittersRCV002254236
NM_000552.5(VWF):c.7987C>T (p.Arg2663Cys)	SNV Germline	Chr12:5952519	Pathogenic/Likely pathogenic	von Willebrand disease type 1 Von Willebrand disease type 2B	Criteria Provided Multiple Submitters No Conflicts		rs_370662678	2 SubmittersRCV002264849 RCV003447621
NM_000552.5(VWF):c.1708T>C (p.Cys570Arg)	SNV Germline	Chr12:6057870	Likely pathogenic	von Willebrand disease type 2	Criteria Provided Single Submitter		rs_2136455744	1 SubmittersRCV002264850
NM_000552.5(VWF):c.1955G>T (p.Cys652Phe)	SNV Germline	Chr12:6052774	Likely pathogenic	von Willebrand disease type 1	Criteria Provided Single Submitter		rs_1438247325	1 SubmittersRCV002264851
NM_000552.5(VWF):c.3108+2T>G	SNV Germline	Chr12:6025904	Pathogenic	von Willebrand disease type 1	Criteria Provided Single Submitter		rs_2136420816	1 SubmittersRCV002264854
NM_000552.5(VWF):c.3845T>C (p.Leu1282Pro)	SNV Germline	Chr12:6019573	Conflicting classifications of pathogenicity	von Willebrand disease type 2 Condition: not provided Von Willebrand disease type 2B	Criteria Provided Conflicting Classifications		rs_61749378	3 SubmittersRCV002264858 RCV003738173 RCV003447622
NM_000552.5(VWF):c.4263C>A (p.Asn1421Lys)	SNV Germline	Chr12:6019155	Likely pathogenic	von Willebrand disease type 2	Criteria Provided Single Submitter		rs_61750082	1 SubmittersRCV002264860
NM_000552.5(VWF):c.4625A>G (p.Tyr1542Cys)	SNV Germline	Chr12:6018793	Likely pathogenic	von Willebrand disease type 2	Criteria Provided Single Submitter		rs_2136412168	1 SubmittersRCV002264863
NM_000552.5(VWF):c.4710C>A (p.Tyr1570Ter)	SNV Germline	Chr12:6018708	Pathogenic	von Willebrand disease type 3	Criteria Provided Single Submitter		rs_2136412017	1 SubmittersRCV002264865
NM_000552.5(VWF):c.4752C>A (p.Tyr1584Ter)	SNV Germline	Chr12:6018666	Pathogenic	von Willebrand disease type 3	Criteria Provided Single Submitter		rs_1475440343	1 SubmittersRCV002264866
NM_000552.5(VWF):c.6743G>A (p.Cys2248Tyr)	SNV Germline	Chr12:5991874	Pathogenic	von Willebrand disease type 1	Criteria Provided Single Submitter		rs_2136382972	1 SubmittersRCV002264872
NM_000552.5(VWF):c.4249G>T (p.Gly1417Trp)	SNV Germline	Chr12:6019169	Likely pathogenic	von Willebrand disease type 2	Criteria Provided Single Submitter		rs_2136412846	1 SubmittersRCV002272594
NM_000552.5(VWF):c.7563G>A (p.Trp2521Ter)	SNV Germline	Chr12:5969377	Pathogenic	von Willebrand disease type 3	Criteria Provided Single Submitter			1 SubmittersRCV002283992
NM_000552.5(VWF):c.1156+1G>A	SNV Germline	Chr12:6071296	Likely pathogenic	Hereditary von Willebrand disease	Criteria Provided Single Submitter			1 SubmittersRCV002308676
NM_000552.5(VWF):c.6798+2T>A	SNV Germline	Chr12:5991817	Pathogenic	von Willebrand disease type 3	Criteria Provided Single Submitter			1 SubmittersRCV002466792
NM_000552.5(VWF):c.573G>C (p.Trp191Cys)	SNV Germline	Chr12:6095544	Likely pathogenic	Von Willebrand disease type 2B	Criteria Provided Single Submitter			1 SubmittersRCV002466844
NM_000552.5(VWF):c.3569G>T (p.Cys1190Phe)	SNV Germline	Chr12:6022005	Likely pathogenic	von Willebrand disease type 2	Criteria Provided Single Submitter			1 SubmittersRCV003313897
NM_000552.5(VWF):c.4342C>T (p.Gln1448Ter)	SNV Germline	Chr12:6019076	Likely pathogenic	von Willebrand disease type 1	Criteria Provided Single Submitter			1 SubmittersRCV003314540
NM_000552.5(VWF):c.3538+1G>C	SNV Germline	Chr12:6022739	Likely pathogenic	Hereditary von Willebrand disease	Criteria Provided Single Submitter			1 SubmittersRCV003479616
NM_000552.5(VWF):c.6697G>T (p.Glu2233Ter)	SNV Germline	Chr12:5991920	Pathogenic	Hereditary von Willebrand disease	Criteria Provided Single Submitter			1 SubmittersRCV003479819
NM_000552.5(VWF):c.2968-1G>A	SNV Germline	Chr12:6026047	Likely pathogenic	Hereditary von Willebrand disease	Criteria Provided Single Submitter			1 SubmittersRCV004018210
NM_000552.5(VWF):c.1181C>G (p.Ser394Ter)	SNV Germline	Chr12:6065249	Likely pathogenic	Hereditary von Willebrand disease	Criteria Provided Single Submitter			1 SubmittersRCV004018258
NM_000552.5(VWF):c.1506G>A (p.Trp502Ter)	SNV Germline	Chr12:6062981	Likely pathogenic	Hereditary von Willebrand disease	Criteria Provided Single Submitter			1 SubmittersRCV004018297
NM_000552.5(VWF):c.6211C>T (p.Gln2071Ter)	SNV Germline	Chr12:5994460	Pathogenic	von Willebrand disease type 1	Criteria Provided Single Submitter			1 SubmittersRCV004771387
NM_000552.5(VWF):c.2546G>T (p.Cys849Phe)	SNV Germline	Chr12:6036388	Likely pathogenic	Hereditary von Willebrand disease	Criteria Provided Single Submitter			1 SubmittersRCV004799024
NM_000552.5(VWF):c.2637C>A (p.Asp879Glu)	SNV Germline	Chr12:6034736	Likely pathogenic	von Willebrand disease type 2N	Reviewed By Expert Panel			1 SubmittersRCV004812536
NM_000552.5(VWF):c.4225G>T (p.Val1409Phe)	SNV Germline	Chr12:6019193	Likely pathogenic	von Willebrand disease type 2M	Reviewed By Expert Panel			1 SubmittersRCV004821400
NM_000552.5(VWF):c.6871T>C (p.Cys2291Arg)	SNV Unknown	Chr12:5985593	Likely pathogenic	von Willebrand disease type 3	Criteria Provided Single Submitter			1 SubmittersRCV005002124

NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr)

SNV
Germline

Chr12:6018535

Pathogenic

Von Willebrand disease type 2A
Condition: not provided
Hereditary von Willebrand disease
von Willebrand disease type 2
VWF-related disorder

Reviewed By Expert Panel

CA114115

rs_61750584

14 SubmittersRCV000000308 RCV000086808 RCV000778377 RCV002243602 RCV004739270

NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp)

SNV
Germline

Chr12:6018629

Pathogenic

Von Willebrand disease type 2A
Condition: not provided
Inborn genetic diseases
Hereditary von Willebrand disease
not specified
von Willebrand disease type 2

Reviewed By Expert Panel

CA114117

rs_61750117

15 SubmittersRCV000000309 RCV000086797 RCV000623564 RCV000851942 RCV000999877 RCV002243603

NM_000552.5(VWF):c.4820T>A (p.Val1607Asp)

SNV
Germline

Chr12:6018598

Likely pathogenic

Von Willebrand disease type 2A
Condition: not provided
von Willebrand disease type 2

Criteria Provided
Single Submitter

CA114119

rs_61750579

4 SubmittersRCV000000310 RCV000086803 RCV002243604

NM_000552.5(VWF):c.3939G>C (p.Trp1313Cys)

SNV
Germline

Chr12:6019479

Pathogenic

Von Willebrand disease type 2B
Condition: not provided

No Assertion Criteria Provided

CA114121

rs_61749392

2 SubmittersRCV000000311 RCV000086709

NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp)

SNV
Germline

Chr12:6019502

Pathogenic

Von Willebrand disease type 2B
Condition: not provided
Hereditary von Willebrand disease
von Willebrand disease type 2
Abnormality of coagulation

Reviewed By Expert Panel

CA114123

rs_61749384

13 SubmittersRCV000000312 RCV000086699 RCV000851599 RCV000851989 RCV000851990

NM_000552.5(VWF):c.3922C>T (p.Arg1308Cys)

SNV
Germline

Chr12:6019496

Pathogenic

Von Willebrand disease type 2B
Condition: not provided
Hereditary von Willebrand disease
von Willebrand disease type 2

Reviewed By Expert Panel

CA114125

rs_61749387

13 SubmittersRCV000000313 RCV000086703 RCV000851770 RCV002225253

NM_000552.5(VWF):c.3946G>A (p.Val1316Met)

SNV
Germline

Chr12:6019472

Pathogenic

Von Willebrand disease type 2B
Condition: not provided
not specified
Hereditary von Willebrand disease
von Willebrand disease type 2
von Willebrand disease type 1
von Willebrand disease type 3
von Willebrand disease type 2

Reviewed By Expert Panel

CA114127

rs_61749397

14 SubmittersRCV000000314 RCV000086715 RCV000507168 RCV000678767 RCV000851771 RCV002476901

NM_000552.5(VWF):c.4022G>A (p.Arg1341Gln)

SNV
Germline

Chr12:6019396

Pathogenic

Von Willebrand disease type 2B
Condition: not provided
Hereditary von Willebrand disease
von Willebrand disease type 2
VWF-related disorder

Reviewed By Expert Panel

CA114129

rs_61749403

8 SubmittersRCV000000315 RCV000086721 RCV002227435 RCV002243605 RCV004547443

NM_000552.5(VWF):c.4837T>C (p.Ser1613Pro)

SNV
Germline

Chr12:6018581

Pathogenic

Von Willebrand disease type 2A
Condition: not provided

No Assertion Criteria Provided

CA114131

rs_61750581

2 SubmittersRCV000000316 RCV000086805

NM_000552.5(VWF):c.2372C>T (p.Thr791Met)

SNV
Germline

Chr12:6044361

Pathogenic

von Willebrand disease type 2N
Condition: not provided
Abnormal bleeding
Hereditary von Willebrand disease
von Willebrand disease type 2

Reviewed By Expert Panel

CA114135

rs_61748477

8 SubmittersRCV000000318 RCV000086606 RCV000851745 RCV002227436 RCV002264633

NM_000552.5(VWF):c.2446C>T (p.Arg816Trp)

SNV
Germline

Chr12:6036488

Pathogenic

von Willebrand disease type 2N
Condition: not provided
Hereditary von Willebrand disease
von Willebrand disease type 1
von Willebrand disease type 3
von Willebrand disease type 2

Reviewed By Expert Panel

CA114137

rs_121964894

8 SubmittersRCV000000319 RCV000086613 RCV001195286 RCV004795363

NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)

SNV
Germline

Chr12:6034812

Pathogenic

von Willebrand disease type 2N
von Willebrand disease type 1
Condition: not provided
Hereditary von Willebrand disease
von Willebrand disease type 2
von Willebrand disease type 2
von Willebrand disease type 3
von Willebrand disease type 1
Abnormality of coagulation
Thrombocytopenia
Abnormal bleeding
von Willebrand disorder
VWF-related disorder
von Willebrand disease type 3

Reviewed By Expert Panel

CA114139

rs_41276738

45 SubmittersRCV000000320 RCV000000321 RCV000086620 RCV000169683 RCV000336497 RCV000762901 RCV000851593 RCV001270529 RCV003987302 RCV004547445 RCV004771452

NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter)

SNV
Germline

Chr12:6018443

Pathogenic

von Willebrand disease type 1
von Willebrand disease type 3
Condition: not provided
Hereditary von Willebrand disease
VWF-related disorder

Reviewed By Expert Panel

CA114141

rs_61750595

10 SubmittersRCV000000323 RCV000000322 RCV000086820 RCV002227437 RCV004739271

NM_000552.5(VWF):c.5557C>T (p.Arg1853Ter)

SNV
Germline

Chr12:6013544

Pathogenic

von Willebrand disease type 1
von Willebrand disease type 3
Condition: not provided
Hereditary von Willebrand disease
Abnormality of blood and blood-forming tissues
von Willebrand disease type 2
VWF-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA114143

rs_61750612

8 SubmittersRCV000000325 RCV000000324 RCV000086843 RCV000851820 RCV001813924 RCV003447467 RCV004547446

NM_000552.5(VWF):c.7603C>T (p.Arg2535Ter)

SNV
Germline

Chr12:5969337

Pathogenic

von Willebrand disease type 3
Condition: not provided
Hereditary von Willebrand disease
von Willebrand disease type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA114145

rs_61751296

10 SubmittersRCV000000326 RCV000086892 RCV002227438 RCV002264634

NM_000552.5(VWF):c.3970G>A (p.Gly1324Ser)

SNV
Germline

Chr12:6019448

Pathogenic

von Willebrand disease type 2M
Condition: not provided
von Willebrand disease type 2

Reviewed By Expert Panel

CA114147

rs_61749398

5 SubmittersRCV000000327 RCV000086716 RCV003447468

NM_000552.5(VWF):c.3814T>C (p.Cys1272Arg)

SNV
Germline

Chr12:6019604

Pathogenic

Von Willebrand disease type 2A
Condition: not provided
von Willebrand disease type 2

Criteria Provided
Single Submitter

CA114149

rs_61749372

4 SubmittersRCV000000328 RCV000086679 RCV002243607

NM_000552.5(VWF):c.3940G>C (p.Val1314Leu)

SNV
Germline

Chr12:6019478

Pathogenic

Von Willebrand disease type 2B
Condition: not provided

Reviewed By Expert Panel

CA114151

rs_61749393

3 SubmittersRCV000000329 RCV000087017

NM_000552.5(VWF):c.4541T>G (p.Phe1514Cys)

SNV
Germline

Chr12:6018877

Pathogenic

Von Willebrand disease type 2A
Condition: not provided

No Assertion Criteria Provided

CA114154

rs_61750101

2 SubmittersRCV000000331 RCV000086775

NM_000552.5(VWF):c.1648G>A (p.Gly550Arg)

SNV
Germline

Chr12:6057930

Pathogenic

Von Willebrand disease type 2A
Condition: not provided

No Assertion Criteria Provided

CA114156

rs_61754011

2 SubmittersRCV000000332 RCV000086570

NM_000552.5(VWF):c.8317T>C (p.Cys2773Arg)

SNV
Germline

Chr12:5949140

Pathogenic

Von Willebrand disease type 2A
Condition: not provided

Reviewed By Expert Panel

CA114158

rs_61751310

3 SubmittersRCV000000333 RCV000086917

NM_000552.5(VWF):c.3614G>A (p.Arg1205His)

SNV
Germline

Chr12:6021960

Pathogenic

von Willebrand disease type 1
von Willebrand factor Vicenza
Condition: not provided
Reduced von Willebrand factor activity
Reduced quantity of Von Willebrand factor
Hereditary von Willebrand disease
VWF-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA114160

rs_121964895

9 SubmittersRCV000000335 RCV000000336 RCV000086666 RCV001003906 RCV000851598 RCV004547447

NM_000552.5(VWF):c.3445T>C (p.Cys1149Arg)

SNV
Germline

Chr12:6022833

Pathogenic

von Willebrand disease type 1
Condition: not provided
von Willebrand disease type 2
Von Willebrand disease type 2A

Reviewed By Expert Panel

CA228410

rs_61748511

4 SubmittersRCV000000337 RCV000086657 RCV002264636 RCV004821258

NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)

SNV
Germline

Chr12:6018667

Conflicting classifications of pathogenicity; risk factor

Condition: not provided
Inborn genetic diseases
Hereditary von Willebrand disease
von Willebrand disease type 2
von Willebrand disease type 1
Thrombus
Thrombocytopenia
VWF-related disorder
von Willebrand disorder
von Willebrand disease type 2
von Willebrand disease type 3
von Willebrand disease type 1

Criteria Provided
Conflicting Classifications

CA114162

rs_1800386

28 SubmittersRCV000000338 RCV000086795 RCV000622977 RCV000678772 RCV001255177 RCV001843449 RCV002280857 RCV003313770 RCV004547448 RCV004700174 RCV004795364

NM_000552.5(VWF):c.3854C>T (p.Ser1285Phe)

SNV
Germline

Chr12:6019564

Likely pathogenic

von Willebrand disease type 2M
Condition: not provided

Reviewed By Expert Panel

CA114164

rs_61749380

3 SubmittersRCV000000339 RCV000086691

NM_000552.5(VWF):c.2384A>G (p.Tyr795Cys)

SNV
Germline

Chr12:6044349

Pathogenic

von Willebrand disease type 2N
Condition: not provided

No Assertion Criteria Provided

CA114166

rs_61748478

2 SubmittersRCV000000340 RCV000086607

NM_000552.5(VWF):c.2411G>T (p.Cys804Phe)

SNV
Germline

Chr12:6044322

Pathogenic

von Willebrand disease type 2N
Condition: not provided

No Assertion Criteria Provided

CA114168

rs_62643630

2 SubmittersRCV000000341 RCV000086609

NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)

SNV
Germline

Chr12:6019621

Conflicting classifications of pathogenicity

Von Willebrand disease type 2B
Condition: not provided
Hereditary von Willebrand disease
von Willebrand disease type 2
von Willebrand disease type 1
Thrombocytopenia
VWF-related disorder

Criteria Provided
Conflicting Classifications

CA114170

rs_61749370

22 SubmittersRCV000000342 RCV000086676 RCV000314989 RCV000853236 RCV002247228 RCV003313771 RCV004547449

NM_000552.5(VWF):c.7085G>T (p.Cys2362Phe)

SNV
Germline

Chr12:5981988

Pathogenic

von Willebrand disease type 3
Condition: not provided

No Assertion Criteria Provided

CA114172

rs_61750630

3 SubmittersRCV000000343 RCV000086870

NM_000552.5(VWF):c.1071C>A (p.Tyr357Ter)

SNV
Germline

Chr12:6072369

Pathogenic

von Willebrand disease type 2N
Condition: not provided

No Assertion Criteria Provided

CA114174

rs_61754002

2 SubmittersRCV000000344 RCV000086555

NM_000552.5(VWF):c.3178T>C (p.Cys1060Arg)

SNV
Germline

Chr12:6025624

Pathogenic

von Willebrand disease type 2N
Condition: not provided

No Assertion Criteria Provided

CA114176

rs_61748497

2 SubmittersRCV000000345 RCV000086640

NM_000552.5(VWF):c.1583A>G (p.Asn528Ser)

SNV
Germline

Chr12:6057995

Pathogenic

Von Willebrand disease type 2A
Condition: not provided
von Willebrand disease type 2

Reviewed By Expert Panel

CA114178

rs_61754010

4 SubmittersRCV000000346 RCV000086569 RCV002243608

NM_000552.5(VWF):c.3437A>G (p.Tyr1146Cys)

SNV
Germline

Chr12:6022841

Pathogenic

von Willebrand disease type 2
Condition: not provided
Hereditary von Willebrand disease
not specified
von Willebrand disease type 1
Von Willebrand disease type 2A

Reviewed By Expert Panel

CA228408

rs_267607326

8 SubmittersRCV000024001 RCV000086656 RCV000851956 RCV001800314 RCV002264640 RCV004821262

NM_000552.5(VWF):c.2279G>A (p.Arg760His)

SNV
Germline

Chr12:6046725

Pathogenic

von Willebrand disease type 1
Condition: not provided

No Assertion Criteria Provided

CA228316

rs_61748467

2 SubmittersRCV000024003 RCV000086595

NM_000552.5(VWF):c.100C>T (p.Arg34Ter)

SNV
Germline

Chr12:6121294

Pathogenic

Condition: not provided
von Willebrand disease type 3
von Willebrand disease type 2
VWF-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA228255

rs_61753984

5 SubmittersRCV000086554 RCV001787039 RCV003447491 RCV004739354

NM_000552.5(VWF):c.1093C>T (p.Arg365Ter)

SNV
Germline

Chr12:6072347

Pathogenic

Condition: not provided
von Willebrand disease type 3
VWF-related disorder

Criteria Provided
Single Submitter

CA228257

rs_61754003

3 SubmittersRCV000086556 RCV001787040 RCV004549525

NM_000552.5(VWF):c.1117C>T (p.Arg373Ter)

SNV
Germline

Chr12:6071336

Pathogenic

Condition: not provided
Hereditary von Willebrand disease

Criteria Provided
Multiple Submitters
No Conflicts

CA228261

rs_62643625

3 SubmittersRCV000086559 RCV003486648

NM_000552.5(VWF):c.1534-3C>A

SNV
Germline

Chr12:6058047

Likely pathogenic

Condition: not provided
von Willebrand disease type 3

No Assertion Criteria Provided

CA228276

rs_61754009

2 SubmittersRCV000086567 RCV001787041

NM_000552.5(VWF):c.1922C>T (p.Ala641Val)

SNV
Germline

Chr12:6056880

Conflicting classifications of pathogenicity

Condition: not provided
von Willebrand disease type 2
von Willebrand disease type 1
von Willebrand disease type 3
Hereditary von Willebrand disease
not specified
Hemorrhage

Criteria Provided
Conflicting Classifications

CA228298

rs_61754019

9 SubmittersRCV000086582 RCV000477864 RCV000851726 RCV004595919 RCV003313777

NM_000552.5(VWF):c.1930G>T (p.Glu644Ter)

SNV
Germline

Chr12:6056872

Pathogenic

Condition: not provided
von Willebrand disease type 3

No Assertion Criteria Provided

CA228302

rs_61748460

2 SubmittersRCV000086584 RCV001787042

NM_000552.5(VWF):c.2116C>T (p.Gln706Ter)

SNV
Germline

Chr12:6052613

Pathogenic

Condition: not provided
von Willebrand disease type 3

No Assertion Criteria Provided

CA228307

rs_61748463

2 SubmittersRCV000086588 RCV001787043

NM_000552.5(VWF):c.212C>A (p.Ser71Ter)

SNV
Germline

Chr12:6121182

Likely pathogenic

Condition: not provided
von Willebrand disease type 3

Criteria Provided
Single Submitter

CA228310

rs_62643619

2 SubmittersRCV000086590 RCV004771460

NM_000552.5(VWF):c.2278C>T (p.Arg760Cys)

SNV
Germline

Chr12:6046726

Conflicting classifications of pathogenicity

von Willebrand disease type 2
von Willebrand disease type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA228314

rs_61748466

5 SubmittersRCV003147338 RCV003992184 RCV000086594

NM_000552.5(VWF):c.2443-1G>C

SNV
Germline

Chr12:6036492

Pathogenic/Likely pathogenic

Condition: not provided
von Willebrand disease type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA228342

rs_61748480

4 SubmittersRCV000086612 RCV001787047

NM_000552.5(VWF):c.2560C>T (p.Arg854Trp)

SNV
Germline

Chr12:6034813

Likely pathogenic

Condition: not provided
Hereditary von Willebrand disease
von Willebrand disease type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA228351

rs_61748482

4 SubmittersRCV000086619 RCV004017399 RCV001787049

NM_000552.5(VWF):c.2635G>A (p.Asp879Asn)

SNV
Germline

Chr12:6034738

Pathogenic

Condition: not provided
von Willebrand disease type 2N

Reviewed By Expert Panel

CA228357

rs_61748485

2 SubmittersRCV000086623 RCV004812300

NM_000552.5(VWF):c.2771G>A (p.Arg924Gln)

SNV
Germline

Chr12:6031493

Conflicting classifications of pathogenicity

von Willebrand disease type 3
von Willebrand disease type 2
von Willebrand disease type 1
Hereditary von Willebrand disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA228368

rs_33978901

10 SubmittersRCV001787051 RCV002243720 RCV002243719 RCV003447494 RCV000086632

NM_000552.5(VWF):c.2936G>A (p.Ser979Asn)

SNV
Germline

Chr12:6029373

Likely pathogenic

Condition: not provided
von Willebrand disease type 1

Criteria Provided
Single Submitter

CA228372

rs_267607312

2 SubmittersRCV000086635 RCV002264642

NM_000552.5(VWF):c.3108+5G>A

SNV
Germline

Chr12:6025901

Conflicting classifications of pathogenicity

Hereditary von Willebrand disease
von Willebrand disease type 1
von Willebrand disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA228377

rs_61748495

7 SubmittersRCV000852109 RCV002280867 RCV002243721 RCV000086638

NM_000552.5(VWF):c.3159G>T (p.Gln1053His)

SNV
Germline

Chr12:6025643

Likely pathogenic

Condition: not provided
von Willebrand disease type 2

Criteria Provided
Single Submitter

CA228378

rs_61748496

2 SubmittersRCV000086639 RCV003447495

NM_000552.5(VWF):c.3179G>A (p.Cys1060Tyr)

SNV
Germline

Chr12:6025623

Pathogenic

Condition: not provided
von Willebrand disease type 2
von Willebrand disease type 1

Criteria Provided
Single Submitter

CA228380

rs_267607314

2 SubmittersRCV000086641 RCV002264644 RCV002264643

NM_000552.5(VWF):c.3232G>A (p.Glu1078Lys)

SNV
Germline

Chr12:6023778

Likely pathogenic

Condition: not provided
von Willebrand disease type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA228384

rs_267607316

3 SubmittersRCV000086643 RCV003989318

NM_000552.5(VWF):c.3359G>C (p.Trp1120Ser)

SNV
Germline

Chr12:6023651

Likely pathogenic

Condition: not provided
Hereditary von Willebrand disease
von Willebrand disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA228396

rs_267607321

3 SubmittersRCV000086649 RCV000851636 RCV002281057

NM_000552.5(VWF):c.3379+1G>A

SNV
Germline

Chr12:6023630

Pathogenic

Condition: not provided
Hereditary von Willebrand disease
von Willebrand disease type 3
von Willebrand disease type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA228398

rs_2363337

5 SubmittersRCV000086650 RCV000851637 RCV001787052 RCV004820829

NM_000552.5(VWF):c.3389G>T (p.Cys1130Phe)

SNV
Germline

Chr12:6022889

Pathogenic

Condition: not provided
von Willebrand disease type 2

Criteria Provided
Single Submitter

CA228404

rs_267607324

3 SubmittersRCV000086654 RCV002243723

NM_000552.5(VWF):c.3467C>T (p.Thr1156Met)

SNV
Germline

Chr12:6022811

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary von Willebrand disease
von Willebrand disease type 3
von Willebrand disease type 1
von Willebrand disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA228414

rs_267607328

6 SubmittersRCV000086659 RCV000851957 RCV001787053 RCV002264645 RCV004586549

NM_000552.5(VWF):c.3538G>A (p.Gly1180Arg)

SNV
Germline

Chr12:6022740

Pathogenic/Likely pathogenic

Condition: not provided
Von Willebrand disease type 2A
Hereditary von Willebrand disease

Criteria Provided
Multiple Submitters
No Conflicts

CA228421

rs_267607332

3 SubmittersRCV000086663 RCV001093531 RCV003126497

NM_000552.5(VWF):c.3568T>C (p.Cys1190Arg)

SNV
Germline

Chr12:6022006

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary von Willebrand disease
von Willebrand disease type 3
von Willebrand disease type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA228423

rs_61749364

4 SubmittersRCV000086664 RCV000851643 RCV001787054 RCV002264646

NM_000552.5(VWF):c.3679T>C (p.Cys1227Arg)

SNV
Germline

Chr12:6019739

Likely pathogenic

Condition: not provided
von Willebrand disease type 3

No Assertion Criteria Provided

CA228431

rs_61749366

2 SubmittersRCV000086669 RCV001787055

NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln)

SNV
Germline

Chr12:6019621

Conflicting classifications of pathogenicity

Hereditary von Willebrand disease
von Willebrand disease type 2
von Willebrand disease type 1
not specified
von Willebrand disease type 2
von Willebrand disease type 1
von Willebrand disease type 3
VWF-related disorder
EBV-positive nodal T- and NK-cell lymphoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA228441

rs_61749370

17 SubmittersRCV000678765 RCV001823113 RCV002247493 RCV002281924 RCV002490753 RCV004549528 RCV004558309 RCV000086675

NM_000552.5(VWF):c.3802C>G (p.His1268Asp)

SNV
Germline

Chr12:6019616

Pathogenic

von Willebrand disease type 2
Hereditary von Willebrand disease
Von Willebrand disease type 2B
Condition: not provided

Reviewed By Expert Panel

CA228445

rs_61749371

6 SubmittersRCV002243726 RCV002243727 RCV004821264 RCV000086678

NM_000552.5(VWF):c.3853T>C (p.Ser1285Pro)

SNV
Germline

Chr12:6019565

Pathogenic

Condition: not provided
von Willebrand disease type 2

Criteria Provided
Single Submitter

CA228466

rs_61749379

2 SubmittersRCV000086690 RCV002264650

NM_000552.5(VWF):c.3863T>G (p.Leu1288Arg)

SNV
Germline

Chr12:6019555

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary von Willebrand disease
von Willebrand disease type 1
von Willebrand disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA228470

rs_267607334

4 SubmittersRCV000086693 RCV000851986 RCV002264651 RCV002264652

NM_000552.5(VWF):c.3877T>C (p.Phe1293Leu)

SNV
Germline

Chr12:6019541

Pathogenic

Condition: not provided
von Willebrand disease type 2

Criteria Provided
Single Submitter

CA228472

rs_267607335

2 SubmittersRCV000086694 RCV002264653

NM_000552.5(VWF):c.3917G>A (p.Arg1306Gln)

SNV
Germline

Chr12:6019501

Pathogenic

Condition: not provided
von Willebrand disease type 2
VWF-related disorder

Criteria Provided
Single Submitter

CA228482

rs_61749385

4 SubmittersRCV000086700 RCV002243729 RCV004739357

NM_000552.5(VWF):c.3917G>T (p.Arg1306Leu)

SNV
Germline

Chr12:6019501

Pathogenic

Condition: not provided
von Willebrand disease type 2
Hereditary von Willebrand disease

Criteria Provided
Single Submitter

CA228484

rs_61749385

3 SubmittersRCV000086701 RCV002243730 RCV003226194

NM_000552.5(VWF):c.3920T>C (p.Leu1307Pro)

SNV
Germline

Chr12:6019498

Pathogenic

Condition: not provided
von Willebrand disease type 2

Criteria Provided
Single Submitter

CA228486

rs_61749386

2 SubmittersRCV000086702 RCV002264654

NM_000552.5(VWF):c.3925A>G (p.Ile1309Val)

SNV
Germline

Chr12:6019493

Pathogenic

Condition: not provided
Hereditary von Willebrand disease
von Willebrand disease type 2

Criteria Provided
Single Submitter

CA228492

rs_61749389

4 SubmittersRCV000086706 RCV000678766 RCV002243731

NM_000552.5(VWF):c.3929C>T (p.Ser1310Phe)

SNV
Germline

Chr12:6019489

Likely pathogenic

Condition: not provided
Von Willebrand disease type 2B

Reviewed By Expert Panel

CA228494

rs_61749390

2 SubmittersRCV000086707 RCV004821265

NM_000552.5(VWF):c.3931C>T (p.Gln1311Ter)

SNV
Germline

Chr12:6019487

Pathogenic

Condition: not provided
von Willebrand disease type 3
Hereditary von Willebrand disease
Thrombocytopenia

Criteria Provided
Multiple Submitters
No Conflicts

CA228496

rs_267607337

6 SubmittersRCV000086708 RCV001787056 RCV001250230 RCV002280869

NM_000552.5(VWF):c.3940G>T (p.Val1314Phe)

SNV
Germline

Chr12:6019478

Pathogenic

Condition: not provided
Von Willebrand disease type 2B

Reviewed By Expert Panel

CA228498

rs_61749393

3 SubmittersRCV000086710 RCV004821266

NM_000552.5(VWF):c.3941T>A (p.Val1314Asp)

SNV
Germline

Chr12:6019477

Pathogenic

Condition: not provided
Von Willebrand disease type 2B

Reviewed By Expert Panel

CA228500

rs_61749394

2 SubmittersRCV000086711 RCV004821267

NM_000552.5(VWF):c.3943C>T (p.Arg1315Cys)

SNV
Germline

Chr12:6019475

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary von Willebrand disease
von Willebrand disease type 2
von Willebrand disease type 1
VWF-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA228502

rs_61749395

8 SubmittersRCV000086712 RCV000851600 RCV002243732 RCV002264655 RCV004549529

NM_000552.5(VWF):c.3944G>A (p.Arg1315His)

SNV
Germline

Chr12:6019474

Likely pathogenic

von Willebrand disease type 2
von Willebrand disease type 1
Inborn genetic diseases
von Willebrand disease type 2M
Condition: not provided

Reviewed By Expert Panel

CA228504

rs_61749396

8 SubmittersRCV002466429 RCV003333732 RCV004678609 RCV004821268 RCV000086713

NM_000552.5(VWF):c.3944G>T (p.Arg1315Leu)

SNV
Germline

Chr12:6019474

Pathogenic

Condition: not provided
von Willebrand disease type 2

No Assertion Criteria Provided

CA228506

rs_61749396

2 SubmittersRCV000086714 RCV002243733

NM_000552.5(VWF):c.3971G>C (p.Gly1324Ala)

SNV
Germline

Chr12:6019447

Pathogenic

Condition: not provided
von Willebrand disease type 2M

Reviewed By Expert Panel

CA228508

rs_61749399

2 SubmittersRCV000086717 RCV004821269

NM_000552.5(VWF):c.4010C>T (p.Pro1337Leu)

SNV
Germline

Chr12:6019408

Pathogenic/Likely pathogenic

Condition: not provided
von Willebrand disease type 1
von Willebrand disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA228510

rs_61749400

4 SubmittersRCV000086718 RCV002222015 RCV002243734

NM_000552.5(VWF):c.4021C>T (p.Arg1341Trp)

SNV
Germline

Chr12:6019397

Pathogenic/Likely pathogenic

Condition: not provided
von Willebrand disease type 1
von Willebrand disease type 2
Hereditary von Willebrand disease

Criteria Provided
Multiple Submitters
No Conflicts

CA228514

rs_61749402

8 SubmittersRCV000086720 RCV002280870 RCV002243735 RCV003323398

NM_000552.5(VWF):c.4022G>C (p.Arg1341Pro)

SNV
Germline

Chr12:6019396

Likely pathogenic

Condition: not provided
von Willebrand disease type 2

Criteria Provided
Single Submitter

CA228516

rs_61749403

2 SubmittersRCV000086722 RCV002264656

NM_000552.5(VWF):c.4036C>T (p.Gln1346Ter)

SNV
Germline

Chr12:6019382

Pathogenic

Condition: not provided
von Willebrand disease type 3

No Assertion Criteria Provided

CA228522

rs_61749405

2 SubmittersRCV000086725 RCV001787057

NM_000552.5(VWF):c.4075G>A (p.Glu1359Lys)

SNV
Germline

Chr12:6019343

Pathogenic

Condition: not provided
von Willebrand disease type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA228524

rs_61749407

4 SubmittersRCV000086726 RCV002264657

NM_000552.5(VWF):c.4082T>C (p.Leu1361Ser)

SNV
Germline

Chr12:6019336

Likely pathogenic

Condition: not provided
not specified
Hereditary von Willebrand disease

Criteria Provided
Single Submitter

CA228528

rs_61749408

3 SubmittersRCV000086728 RCV000678768 RCV000851781

NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile)

SNV
Germline

Chr12:6019313

Pathogenic/Likely pathogenic

Hereditary von Willebrand disease
von Willebrand disease type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA228533

rs_61750069

8 SubmittersRCV000851784 RCV002222390 RCV000086731

NM_000552.5(VWF):c.4115T>G (p.Ile1372Ser)

SNV
Germline

Chr12:6019303

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary von Willebrand disease
not specified
von Willebrand disease type 2

Criteria Provided
Conflicting Classifications

CA228535

rs_61750070

5 SubmittersRCV000086732 RCV000678769 RCV003226195 RCV002243736

NM_000552.5(VWF):c.4120C>T (p.Arg1374Cys)

SNV
Germline

Chr12:6019298

Pathogenic

Condition: not provided
Hereditary von Willebrand disease
von Willebrand disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA228539

rs_61750071

12 SubmittersRCV000086734 RCV000678770 RCV002222016

NM_000552.5(VWF):c.4121G>A (p.Arg1374His)

SNV
Germline

Chr12:6019297

Pathogenic

Condition: not provided
Prolonged bleeding time
Abnormal bleeding
Hereditary von Willebrand disease
von Willebrand disease type 2
von Willebrand disease type 1
Von Willebrand disease type 2A
von Willebrand disease type 1
von Willebrand disease type 2M

Reviewed By Expert Panel

CA228541

rs_61750072

14 SubmittersRCV000086735 RCV000626712 RCV000851939 RCV000852116 RCV002264658 RCV001093529

NM_000552.5(VWF):c.4121G>T (p.Arg1374Leu)

SNV
Germline

Chr12:6019297

Pathogenic/Likely pathogenic

Condition: not provided
von Willebrand disease type 2
Hereditary von Willebrand disease

Criteria Provided
Multiple Submitters
No Conflicts

CA228543

rs_61750072

6 SubmittersRCV000086736 RCV002264659 RCV002243737

NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys)

SNV
Germline

Chr12:6019283

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary von Willebrand disease
von Willebrand disease type 2
von Willebrand disease type 1
VWF-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA228547

rs_61750074

12 SubmittersRCV000086738 RCV000778378 RCV002243738 RCV002264660 RCV003335097

NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys)

SNV
Germline

Chr12:6019223

Likely pathogenic

Hereditary von Willebrand disease
von Willebrand disease type 2
von Willebrand disorder
von Willebrand disease type 2M
Condition: not provided

Reviewed By Expert Panel

CA228555

rs_61750077

13 SubmittersRCV000852119 RCV002222017 RCV004700405 RCV004821270 RCV000086742

NM_000552.5(VWF):c.421G>A (p.Asp141Asn)

SNV
Germline

Chr12:6110485

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary von Willebrand disease
von Willebrand disease type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA228557

rs_61753992

4 SubmittersRCV000086743 RCV000852120 RCV002264661

NM_000552.5(VWF):c.4244G>A (p.Gly1415Asp)

SNV
Germline

Chr12:6019174

Likely pathogenic

Condition: not provided
von Willebrand disease type 2M

Reviewed By Expert Panel

CA228567

rs_61750080

2 SubmittersRCV000086748 RCV004821271

NM_000552.5(VWF):c.4247T>A (p.Ile1416Asn)

SNV
Germline

Chr12:6019171

Likely pathogenic

Condition: not provided
Hereditary von Willebrand disease
von Willebrand disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA228569

rs_61750081

4 SubmittersRCV000086749 RCV000852123 RCV002243740

NM_000552.5(VWF):c.4273A>T (p.Ile1425Phe)

SNV
Germline

Chr12:6019145

Likely pathogenic

Condition: not provided
Hereditary von Willebrand disease
von Willebrand disease type 2
von Willebrand disease type 1
von Willebrand disease type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA228573

rs_61750083

5 SubmittersRCV000086751 RCV002227446 RCV002498470

NM_000552.5(VWF):c.4309G>A (p.Ala1437Thr)

SNV
Germline

Chr12:6019109

Likely pathogenic

von Willebrand disease type 2
von Willebrand disease type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA228575

rs_61750084

6 SubmittersRCV002243741 RCV004760373 RCV000086752

NM_000552.5(VWF):c.4384C>G (p.Pro1462Ala)

SNV
Germline

Chr12:6019034

Conflicting classifications of pathogenicity

Condition: not provided
von Willebrand disease type 2

Criteria Provided
Conflicting Classifications

CA228590

rs_61750090

3 SubmittersRCV000086760 RCV002466430

NM_000552.5(VWF):c.449T>C (p.Leu150Pro)

SNV
Germline

Chr12:6110457

Likely pathogenic

Condition: not provided
Hereditary von Willebrand disease
von Willebrand disease type 3

Criteria Provided
Single Submitter

CA228603

rs_61753994

4 SubmittersRCV000086768 RCV000851799 RCV001787058

NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu)

SNV
Germline

Chr12:6018901

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary von Willebrand disease
von Willebrand disease type 2
Von Willebrand disease type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA228615

rs_61750100

12 SubmittersRCV000086774 RCV000852128 RCV002222018 RCV004595920

NM_000552.5(VWF):c.4626C>G (p.Tyr1542Ter)

SNV
Germline

Chr12:6018792

Pathogenic

Condition: not provided
von Willebrand disease type 3

No Assertion Criteria Provided

CA228626

rs_267607343

2 SubmittersRCV000086781 RCV001787060

NM_000552.5(VWF):c.4628C>T (p.Ser1543Phe)

SNV
Germline

Chr12:6018790

Pathogenic

Condition: not provided
Hereditary von Willebrand disease

Criteria Provided
Single Submitter

CA228628

rs_267607344

2 SubmittersRCV000086782 RCV002222391

NM_000552.5(VWF):c.4667A>G (p.Gln1556Arg)

SNV
Germline

Chr12:6018751

Likely pathogenic

Condition: not provided
von Willebrand disease type 2

Criteria Provided
Single Submitter

CA228635

rs_61750110

2 SubmittersRCV000086786 RCV002264663

NM_000552.5(VWF):c.4717G>A (p.Gly1573Ser)

SNV
Germline

Chr12:6018701

Likely pathogenic

Condition: not provided
von Willebrand disease type 2

Criteria Provided
Single Submitter

CA228643

rs_267607349

2 SubmittersRCV000086790 RCV002264664

NM_000552.5(VWF):c.4790G>A (p.Arg1597Gln)

SNV
Germline

Chr12:6018628

Pathogenic

Condition: not provided
Hereditary von Willebrand disease
von Willebrand disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA228657

rs_61750577

4 SubmittersRCV000086799 RCV000852141 RCV002243742

NM_000552.5(VWF):c.4825G>A (p.Gly1609Arg)

SNV
Germline

Chr12:6018593

Conflicting classifications of pathogenicity

Condition: not provided
von Willebrand disease type 2
Hereditary von Willebrand disease

Criteria Provided
Conflicting Classifications

CA228665

rs_61750580

4 SubmittersRCV000086804 RCV002243743 RCV003387760

NM_000552.5(VWF):c.4994T>A (p.Val1665Glu)

SNV
Germline

Chr12:6018424

Likely pathogenic

Condition: not provided
von Willebrand disease type 2

No Assertion Criteria Provided

CA228692

rs_61750596

2 SubmittersRCV000086822 RCV002243744

NM_000552.5(VWF):c.5170+10C>T

SNV
Germline

Chr12:6016744

Conflicting classifications of pathogenicity

Hereditary von Willebrand disease
von Willebrand disease type 3
not specified
von Willebrand disease type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA228702

rs_61750601

9 SubmittersRCV001110727 RCV001787062 RCV001804838 RCV002264665 RCV000086828

NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr)

SNV
Germline

Chr12:6016636

Conflicting classifications of pathogenicity

Hereditary von Willebrand disease
not specified
von Willebrand disease type 2
VWF-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA228704

rs_61750603

11 SubmittersRCV000343743 RCV000826083 RCV002243746 RCV004549531 RCV000086830

NM_000552.5(VWF):c.5235G>T (p.Trp1745Cys)

SNV
Germline

Chr12:6016592

Likely pathogenic

Condition: not provided
von Willebrand disease type 2
von Willebrand disease type 2M

Reviewed By Expert Panel

CA228706

rs_267607352

3 SubmittersRCV000086831 RCV002271338 RCV004821273

NM_000552.5(VWF):c.5278G>A (p.Val1760Ile)

SNV
Germline

Chr12:6016549

Conflicting classifications of pathogenicity

Abnormality of coagulation
not specified
VWF-related disorder
Hereditary von Willebrand disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA228708

rs_61750604

13 SubmittersRCV000852150 RCV001001933 RCV004549532 RCV004786367 RCV000086832

NM_000552.5(VWF):c.5321T>C (p.Leu1774Ser)

SNV
Unknown

Chr12:6016223

Likely pathogenic

Condition: not provided
Hereditary von Willebrand disease

Criteria Provided
Single Submitter

CA228710

rs_61750605

2 SubmittersRCV000086833 RCV000852152

NM_000552.5(VWF):c.533-2A>G

SNV
Germline

Chr12:6095586

Likely pathogenic

Condition: not provided
von Willebrand disease type 3

No Assertion Criteria Provided

CA228712

rs_267607301

2 SubmittersRCV000086834 RCV001787063

NM_000552.5(VWF):c.5335C>T (p.Arg1779Ter)

SNV
Germline

Chr12:6016209

Pathogenic

von Willebrand disease type 3
von Willebrand disease type 2
See cases
von Willebrand disorder
VWF-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA228713

rs_61750606

7 SubmittersRCV001787064 RCV003447496 RCV003156071 RCV004700406 RCV004549533 RCV000086835

NM_000552.5(VWF):c.5380A>G (p.Lys1794Glu)

SNV
Germline

Chr12:6016164

Pathogenic

Condition: not provided
von Willebrand disease type 1

Criteria Provided
Single Submitter

CA228719

rs_267607355

2 SubmittersRCV000086838 RCV002264666

NM_000552.5(VWF):c.55G>A (p.Gly19Arg)

SNV
Germline

Chr12:6123142

Conflicting classifications of pathogenicity

Condition: not provided
von Willebrand disease type 1
not specified
von Willebrand disease type 3

Criteria Provided
Conflicting Classifications

CA228729

rs_61753983

4 SubmittersRCV000086844 RCV002264667 RCV003478999 RCV004771461

NM_000552.5(VWF):c.652C>T (p.Gln218Ter)

SNV
Germline

Chr12:6095465

Pathogenic

Condition: not provided
von Willebrand disease type 3

No Assertion Criteria Provided

CA228744

rs_62643623

2 SubmittersRCV000086853 RCV001787067

NM_000552.5(VWF):c.6536C>T (p.Ser2179Phe)

SNV
Germline

Chr12:5993924

Likely pathogenic

Condition: not provided
von Willebrand disease type 1

Criteria Provided
Single Submitter

CA228746

rs_61750620

2 SubmittersRCV000086854 RCV002264668

NM_000552.5(VWF):c.666G>A (p.Trp222Ter)

SNV
Germline

Chr12:6075543

Pathogenic

Condition: not provided
von Willebrand disease type 3

No Assertion Criteria Provided

CA228753

rs_62643624

2 SubmittersRCV000086858 RCV001787068

NM_000552.5(VWF):c.6798+1G>T

SNV
Germline

Chr12:5991818

Likely pathogenic

Condition: not provided
Hereditary von Willebrand disease
VWF-related disorder

Criteria Provided
Single Submitter

CA228759

rs_61750624

3 SubmittersRCV000086861 RCV000851853 RCV004549534

NM_000552.5(VWF):c.6911G>A (p.Cys2304Tyr)

SNV
Germline

Chr12:5985110

Pathogenic/Likely pathogenic

Condition: not provided
von Willebrand disease type 3
von Willebrand disease type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA228762

rs_61750626

4 SubmittersRCV000086863 RCV001787069 RCV002264669

NM_000552.5(VWF):c.7082-2A>G

SNV
Germline

Chr12:5981993

Likely pathogenic

Condition: not provided
von Willebrand disease type 3

No Assertion Criteria Provided

CA228773

rs_267607358

2 SubmittersRCV000086869 RCV001787070

NM_000552.5(VWF):c.7300C>T (p.Arg2434Ter)

SNV
Germline

Chr12:5976248

Pathogenic

Condition: not provided
von Willebrand disease type 3

No Assertion Criteria Provided

CA228781

rs_62643640

2 SubmittersRCV000086877 RCV001787072

NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys)

SNV
Germline

Chr12:5976158

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary von Willebrand disease
Abnormal bleeding
Thrombocytopenia
von Willebrand disorder
von Willebrand disease type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA228786

rs_61751286

11 SubmittersRCV000086880 RCV000778374 RCV001270490 RCV004782236 RCV002264670

NM_000552.5(VWF):c.7408C>T (p.Gln2470Ter)

SNV
Germline

Chr12:5976140

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary von Willebrand disease
von Willebrand disease type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA228790

rs_61751288

4 SubmittersRCV000086882 RCV000852206 RCV001787074

NM_000552.5(VWF):c.7437G>A (p.Ser2479=)

SNV
Germline

Chr12:5976111

Pathogenic

Condition: not provided
Hereditary von Willebrand disease

No Assertion Criteria Provided

CA228797

rs_267607363

2 SubmittersRCV000086886 RCV002243754

NM_000552.5(VWF):c.7630C>T (p.Gln2544Ter)

SNV
Germline

Chr12:5969310

Pathogenic

Condition: not provided
von Willebrand disease type 3

No Assertion Criteria Provided

CA228808

rs_61751297

2 SubmittersRCV000086893 RCV001787075

NM_000552.5(VWF):c.7636A>T (p.Asn2546Tyr)

SNV
Germline

Chr12:5969304

Conflicting classifications of pathogenicity

von Willebrand disease type 3
von Willebrand disease type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA228810

rs_61751298

4 SubmittersRCV001787076 RCV002225289 RCV000086894

NM_000552.5(VWF):c.7729+7C>T

SNV
Germline

Chr12:5969204

Likely pathogenic

Condition: not provided
von Willebrand disease type 3
von Willebrand disorder

Criteria Provided
Single Submitter

CA228815

rs_61751301

3 SubmittersRCV000086898 RCV001787079 RCV004700407

NM_000552.5(VWF):c.7730-1G>C

SNV
Germline

Chr12:5968168

Likely pathogenic

Condition: not provided
von Willebrand disease type 3

No Assertion Criteria Provided

CA228816

rs_267607366

2 SubmittersRCV000086899 RCV001787080

NM_000552.5(VWF):c.7940C>T (p.Thr2647Met)

SNV
Germline

Chr12:5953542

Conflicting classifications of pathogenicity

von Willebrand disease type 2
von Willebrand disease type 1
von Willebrand disease type 3
Hereditary von Willebrand disease
von Willebrand disease type 1
von Willebrand disease type 3
VWF-related disorder
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA228819

rs_61751302

13 SubmittersRCV000765101 RCV000851886 RCV002225290 RCV002225291 RCV004739359 RCV004998226 RCV000086901

NM_000552.5(VWF):c.8012G>A (p.Cys2671Tyr)

SNV
Germline

Chr12:5952494

Likely pathogenic

Condition: not provided
von Willebrand disease type 3

No Assertion Criteria Provided

CA228821

rs_61751303

2 SubmittersRCV000086902 RCV001787081

NM_000552.5(VWF):c.8155+3G>C

SNV
Germline

Chr12:5951841

Likely pathogenic

Condition: not provided
von Willebrand disease type 3

No Assertion Criteria Provided

CA228825

rs_61751304

2 SubmittersRCV000086904 RCV001787082

NM_000552.5(VWF):c.817C>T (p.Arg273Trp)

SNV
Germline

Chr12:6075392

Pathogenic

Condition: not provided
von Willebrand disease type 1
Hereditary von Willebrand disease
VWF-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA228829

rs_61753997

5 SubmittersRCV000086907 RCV003313936 RCV003398701 RCV004739360

NM_000552.5(VWF):c.8216G>A (p.Cys2739Tyr)

SNV
Germline

Chr12:5949823

Likely pathogenic

Condition: not provided
von Willebrand disease type 3

No Assertion Criteria Provided

CA228832

rs_61751305

2 SubmittersRCV000086909 RCV001787083

NM_000552.5(VWF):c.823T>A (p.Cys275Ser)

SNV
Germline

Chr12:6075386

Likely pathogenic

Condition: not provided
von Willebrand disease type 3

No Assertion Criteria Provided

CA228834

rs_61753998

2 SubmittersRCV000086910 RCV001787084

NM_000552.5(VWF):c.823T>C (p.Cys275Arg)

SNV
Germline

Chr12:6075386

Likely pathogenic

Condition: not provided
von Willebrand disease type 2

No Assertion Criteria Provided

CA228836

rs_61753998

2 SubmittersRCV000086911 RCV002243755

NM_000552.5(VWF):c.8318G>C (p.Cys2773Ser)

SNV
Germline

Chr12:5949139

Pathogenic

Condition: not provided
Von Willebrand disease type 2A

Reviewed By Expert Panel

CA228847

rs_61751311

2 SubmittersRCV000086918 RCV004821275

NM_000552.5(VWF):c.970C>T (p.Arg324Ter)

SNV
Germline

Chr12:6073646

Pathogenic

Condition: not provided
von Willebrand disease type 3
von Willebrand disease type 1
Hereditary von Willebrand disease

Reviewed By Expert Panel

CA228862

rs_61754000

6 SubmittersRCV000086927 RCV001787087 RCV002280872 RCV002243756

NM_000552.5(VWF):c.7887+12T>C

SNV
Germline

Chr12:5967474

Conflicting classifications of pathogenicity

Hereditary von Willebrand disease
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6401485

rs_55687637

6 SubmittersRCV000284400 RCV000251911 RCV002274956

NM_000552.5(VWF):c.3789G>A (p.Ser1263=)

SNV
Germline

Chr12:6019629

Conflicting classifications of pathogenicity

not specified
Condition: not provided
von Willebrand disease type 3
von Willebrand disease type 2
von Willebrand disease type 1

Criteria Provided
Conflicting Classifications

CA6402669

rs_199831474

10 SubmittersRCV000247036 RCV000760121 RCV002244004 RCV002244005 RCV002244003

NM_000552.5(VWF):c.546G>A (p.Ser182=)

SNV
Germline

Chr12:6095571

Conflicting classifications of pathogenicity

not specified
Condition: not provided
von Willebrand disease type 2
von Willebrand disease type 1

Criteria Provided
Conflicting Classifications

CA6403759

rs_143054357

7 SubmittersRCV000244211 RCV000986077 RCV001843502 RCV002280875

NM_000552.5(VWF):c.5049A>C (p.Ala1683=)

SNV
Germline

Chr12:6018369

Conflicting classifications of pathogenicity

Hereditary von Willebrand disease
Condition: not provided
not specified
von Willebrand disease type 2

Criteria Provided
Conflicting Classifications

CA10604008

rs_79275181

5 SubmittersRCV000291213 RCV000307103 RCV001820811 RCV004816481

NM_000552.5(VWF):c.7362C>T (p.Thr2454=)

SNV
Germline

Chr12:5976186

Conflicting classifications of pathogenicity

Hereditary von Willebrand disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6401694

rs_146504585

2 SubmittersRCV000402193 RCV003477885

NM_000552.5(VWF):c.5277C>T (p.Asp1759=)

SNV
Germline

Chr12:6016550

Conflicting classifications of pathogenicity

Hereditary von Willebrand disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6402333

rs_41276736

4 SubmittersRCV000383234 RCV000760126

NM_000552.5(VWF):c.2103C>T (p.Cys701=)

SNV
Germline

Chr12:6052626

Conflicting classifications of pathogenicity

Hereditary von Willebrand disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6403175

rs_78995469

2 SubmittersRCV000317855 RCV000986063

NM_000552.5(VWF):c.1596C>T (p.Gly532=)

SNV
Germline

Chr12:6057982

Conflicting classifications of pathogenicity

Hereditary von Willebrand disease
Condition: not provided
VWF-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA6403333

rs_111240043

4 SubmittersRCV000308809 RCV000986059 RCV004549678 RCV004999288

NM_000552.5(VWF):c.1077C>T (p.Pro359=)

SNV
Germline

Chr12:6072363

Conflicting classifications of pathogenicity

Hereditary von Willebrand disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6403568

rs_71582884

3 SubmittersRCV000261868 RCV000760106

NM_000552.5(VWF):c.6756G>A (p.Glu2252=)

SNV
Germline

Chr12:5991861

Conflicting classifications of pathogenicity

Hereditary von Willebrand disease
VWF-related disorder
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6401921

rs_71581020

5 SubmittersRCV000385378 RCV004549677 RCV001820915 RCV003389643

NM_000552.5(VWF):c.3720G>A (p.Pro1240=)

SNV
Germline

Chr12:6019698

Conflicting classifications of pathogenicity

Hereditary von Willebrand disease
not specified

Criteria Provided
Conflicting Classifications

CA6402691

rs_141792415

2 SubmittersRCV000275030 RCV004782352

NM_000552.5(VWF):c.2281+13C>T

SNV
Germline

Chr12:6046710

Conflicting classifications of pathogenicity

not specified
Hereditary von Willebrand disease

Criteria Provided
Conflicting Classifications

CA6403127

rs_183077797

2 SubmittersRCV004800382 RCV000362085

NM_000552.5(VWF):c.2025G>A (p.Pro675=)

SNV
Germline

Chr12:6052704

Conflicting classifications of pathogenicity

Hereditary von Willebrand disease
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6403196

rs_779045480

5 SubmittersRCV000372026 RCV000986062 RCV003987503

NM_000552.5(VWF):c.858C>T (p.Thr286=)

SNV
Germline

Chr12:6075351

Conflicting classifications of pathogenicity

Hereditary von Willebrand disease
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6403671

rs_776206258

3 SubmittersRCV000277342 RCV000994823 RCV003151022

NM_000552.5(VWF):c.8160G>A (p.Glu2720=)

SNV
Germline

Chr12:5949879

Conflicting classifications of pathogenicity

Hereditary von Willebrand disease
VWF-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA6401365

rs_368802960

3 SubmittersRCV000272380 RCV004549676 RCV004525919

NM_000552.5(VWF):c.7800C>T (p.Cys2600=)

SNV
Germline

Chr12:5967573

Conflicting classifications of pathogenicity

Hereditary von Willebrand disease
not specified

Criteria Provided
Conflicting Classifications

CA6401508

rs_200209213

2 SubmittersRCV000337134 RCV004586679

NM_000552.5(VWF):c.7698G>A (p.Lys2566=)

SNV
Germline

Chr12:5969242

Conflicting classifications of pathogenicity

Hereditary von Willebrand disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6401585

rs_16932285

3 SubmittersRCV000314885 RCV003477884

NM_000552.5(VWF):c.7082-13G>C

SNV
Germline

Chr12:5982004

Conflicting classifications of pathogenicity

Hereditary von Willebrand disease
Condition: not provided
von Willebrand disease type 3
not specified

Criteria Provided
Conflicting Classifications

CA6401767

rs_71581025

5 SubmittersRCV000323341 RCV000994797 RCV001787096 RCV003987502

NM_000552.5(VWF):c.3719C>T (p.Pro1240Leu)

SNV
Germline

Chr12:6019699

Conflicting classifications of pathogenicity

Hereditary von Willebrand disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6402693

rs_150576611

4 SubmittersRCV000327886 RCV001284371

NM_000552.5(VWF):c.114C>T (p.Phe38=)

SNV
Germline

Chr12:6121280

Conflicting classifications of pathogenicity

Hereditary von Willebrand disease
not specified
Condition: not provided
VWF-related disorder

Criteria Provided
Conflicting Classifications

CA6403892

rs_2229443

8 SubmittersRCV000377882 RCV000504545 RCV000994825 RCV004549679

NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro)

SNV
Germline

Chr12:5952518

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary von Willebrand disease
Abnormality of coagulation
Abnormal bleeding
Thrombocytopenia
von Willebrand disease type 1

Criteria Provided
Conflicting Classifications

CA6401423

rs_149834874

12 SubmittersRCV000413262 RCV000986090 RCV000778372 RCV000851890 RCV001270575 RCV002280878

NM_000552.5(VWF):c.1625C>G (p.Ala542Gly)

SNV
Germline

Chr12:6057953

Conflicting classifications of pathogenicity

Condition: not provided
von Willebrand disease type 2
von Willebrand disease type 1
von Willebrand disease type 3
Hereditary von Willebrand disease
von Willebrand disease type 1
von Willebrand disease type 2
not specified
VWF-related disorder

Criteria Provided
Conflicting Classifications

CA6403319

rs_141649383

10 SubmittersRCV000760113 RCV000765104 RCV000852047 RCV002264696 RCV003147455 RCV003323534 RCV004551444

NM_000552.5(VWF):c.4247T>C (p.Ile1416Thr)

SNV
Germline

Chr12:6019171

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary von Willebrand disease
von Willebrand disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA383503536

rs_61750081

5 SubmittersRCV000506329 RCV001563671 RCV003447537

NM_000552.5(VWF):c.3613C>T (p.Arg1205Cys)

SNV
Germline

Chr12:6021961

Pathogenic/Likely pathogenic

Hereditary von Willebrand disease
Condition: not provided
von Willebrand disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6402724

rs_373787920

5 SubmittersRCV000851647 RCV002274046 RCV004701576

NM_000552.5(VWF):c.4496T>A (p.Val1499Glu)

SNV
Germline

Chr12:6018922

Pathogenic

not specified
von Willebrand disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA383501687

rs_1555194979

2 SubmittersRCV000506081 RCV002264704

NM_000552.5(VWF):c.4457C>T (p.Ser1486Leu)

SNV
Germline

Chr12:6018961

Conflicting classifications of pathogenicity

Hereditary von Willebrand disease
Condition: not provided
not specified
von Willebrand disease type 1

Criteria Provided
Conflicting Classifications

rs_149424724

6 SubmittersRCV000678771 RCV000986075 RCV001816687 RCV003313787

NM_000552.5(VWF):c.5851A>G (p.Thr1951Ala)

SNV
Germline

Chr12:5996214

Conflicting classifications of pathogenicity

Abnormality of coagulation
Condition: not provided
von Willebrand disease type 3
von Willebrand disease type 1
not specified
von Willebrand disease type 2
Hereditary von Willebrand disease

Criteria Provided
Conflicting Classifications

rs_144072210

8 SubmittersRCV000852162 RCV000994803 RCV001787107 RCV002264731 RCV002469281 RCV003147542 RCV004788158

NM_000552.5(VWF):c.7732C>T (p.Arg2578Cys)

SNV
Germline

Chr12:5968165

Conflicting classifications of pathogenicity

Hereditary von Willebrand disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_369970893

2 SubmittersRCV000852210 RCV004792445

NM_000552.5(VWF):c.7493C>A (p.Ala2498Asp)

SNV
Germline

Chr12:5971654

Conflicting classifications of pathogenicity

Hereditary von Willebrand disease
Condition: not provided
von Willebrand disease type 1
VWF-related disorder
not specified

Criteria Provided
Conflicting Classifications

rs_369669154

6 SubmittersRCV000851866 RCV001796780 RCV002264735 RCV004549842 RCV003226384

NM_000552.5(VWF):c.7450G>A (p.Val2484Ile)

SNV
Unknown

Chr12:5971697

Likely pathogenic

Hereditary von Willebrand disease

Criteria Provided
Single Submitter

rs_139864572

1 SubmittersRCV000851865

NM_000552.5(VWF):c.7399C>T (p.Gln2467Ter)

SNV
Unknown

Chr12:5976149

Likely pathogenic

von Willebrand disease type 3

Criteria Provided
Single Submitter

rs_1591838792

1 SubmittersRCV001787113

NM_000552.5(VWF):c.7352G>A (p.Cys2451Tyr)

SNV
Unknown

Chr12:5976196

Likely pathogenic

Hereditary von Willebrand disease

Criteria Provided
Single Submitter

rs_1591838833

1 SubmittersRCV000852203

NM_000552.5(VWF):c.7080C>A (p.Cys2360Ter)

SNV
Germline

Chr12:5983151

Pathogenic

Abnormality of coagulation
von Willebrand disease type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_111597150

2 SubmittersRCV000852194 RCV002264740

NM_000552.5(VWF):c.6488G>A (p.Cys2163Tyr)

SNV
Unknown

Chr12:5993972

Likely pathogenic

Hereditary von Willebrand disease

Criteria Provided
Single Submitter

rs_1591848387

1 SubmittersRCV000851607

NM_000552.5(VWF):c.5801T>G (p.Val1934Gly)

SNV
Germline

Chr12:6011658

Conflicting classifications of pathogenicity

Hereditary von Willebrand disease
See cases
von Willebrand disease type 1

Criteria Provided
Conflicting Classifications

rs_139845585

3 SubmittersRCV000852160 RCV004584411 RCV002264738

NM_000552.5(VWF):c.5471C>G (p.Pro1824Arg)

SNV
Unknown

Chr12:6013630

Likely pathogenic

Hereditary von Willebrand disease

Criteria Provided
Single Submitter

rs_61750610

1 SubmittersRCV000852158

NM_000552.5(VWF):c.4931G>A (p.Trp1644Ter)

SNV
Germline

Chr12:6018487

Pathogenic/Likely pathogenic

Hereditary von Willebrand disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591862022

2 SubmittersRCV000851803 RCV001811479

NM_000552.5(VWF):c.4637T>G (p.Val1546Gly)

SNV
Unknown

Chr12:6018781

Likely pathogenic

von Willebrand disease type 2

Criteria Provided
Single Submitter

rs_1591862366

1 SubmittersRCV000852134

NM_000552.5(VWF):c.4146G>T (p.Leu1382=)

SNV
Germline

Chr12:6019272

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary von Willebrand disease
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_140464171

4 SubmittersRCV003344034 RCV000852117 RCV003396341 RCV003478455

NM_000552.5(VWF):c.4105T>C (p.Phe1369Leu)

SNV
Unknown

Chr12:6019313

Likely pathogenic

Hereditary von Willebrand disease

Criteria Provided
Single Submitter

rs_61750069

1 SubmittersRCV000852114

NM_000552.5(VWF):c.3962A>G (p.Tyr1321Cys)

SNV
Germline

Chr12:6019456

Likely pathogenic

von Willebrand disease type 2

Criteria Provided
Single Submitter

rs_1591863294

2 SubmittersRCV000851773

NM_000552.5(VWF):c.3842T>C (p.Leu1281Pro)

SNV
Unknown

Chr12:6019576

Conflicting classifications of pathogenicity

von Willebrand disease type 2
von Willebrand disease type 1

Criteria Provided
Conflicting Classifications

rs_1591863438

2 SubmittersRCV000851985 RCV002222051

NM_000552.5(VWF):c.3569G>A (p.Cys1190Tyr)

SNV
Germline

Chr12:6022005

Conflicting classifications of pathogenicity

Reduced von Willebrand factor activity
von Willebrand disease type 2
von Willebrand disease type 1
not specified

Criteria Provided
Conflicting Classifications

rs_1591865026

4 SubmittersRCV001003907 RCV000851644 RCV002222625 RCV003317360

NM_000552.5(VWF):c.3390C>T (p.Cys1130=)

SNV
Germline

Chr12:6022888

Pathogenic/Likely pathogenic

von Willebrand disease type 1
von Willebrand disease type 2
Condition: not provided
von Willebrand disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591865617

7 SubmittersRCV000851955 RCV002245652 RCV003478454 RCV004782541

NM_000552.5(VWF):c.2921G>A (p.Trp974Ter)

SNV
Unknown

Chr12:6029388

Pathogenic

Hereditary von Willebrand disease

Criteria Provided
Single Submitter

rs_1591870340

1 SubmittersRCV000851766

NM_000552.5(VWF):c.2060G>A (p.Cys687Tyr)

SNV
Unknown

Chr12:6052669

Likely pathogenic

von Willebrand disease type 1

Criteria Provided
Single Submitter

rs_1591886521

1 SubmittersRCV000851736

NM_000552.5(VWF):c.1974C>G (p.Tyr658Ter)

SNV
Unknown

Chr12:6052755

Likely pathogenic

Hereditary von Willebrand disease

Criteria Provided
Single Submitter

rs_761288966

1 SubmittersRCV000851729

NM_000552.5(VWF):c.1607T>C (p.Leu536Pro)

SNV
Germline

Chr12:6057971

Likely pathogenic

Hereditary von Willebrand disease
von Willebrand disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591890769

3 SubmittersRCV000852041 RCV002264736

NM_000552.5(VWF):c.993C>A (p.Cys331Ter)

SNV
Unknown

Chr12:6073623

Likely pathogenic

Hereditary von Willebrand disease

Criteria Provided
Single Submitter

rs_147924974

1 SubmittersRCV000851924

NM_000552.5(VWF):c.7730-1G>T

SNV
Unknown

Chr12:5968168

Likely pathogenic

von Willebrand disease type 3
von Willebrand disease type 1

Criteria Provided
Single Submitter

rs_267607366

1 SubmittersRCV001787114 RCV000852208

NM_000552.5(VWF):c.3675-1G>A

SNV
Germline

Chr12:6019744

Likely pathogenic

von Willebrand disease type 3

Criteria Provided
Single Submitter

rs_746457842

2 SubmittersRCV001787111

NM_000552.5(VWF):c.1293+2T>C

SNV
Unknown

Chr12:6065135

Likely pathogenic

Hereditary von Willebrand disease

Criteria Provided
Single Submitter

rs_1591895879

1 SubmittersRCV000852007

NM_000552.5(VWF):c.658-3C>A

SNV
Germline

Chr12:6075554

Conflicting classifications of pathogenicity

Hereditary von Willebrand disease
Reduced von Willebrand factor activity
Reduced quantity of Von Willebrand factor
Condition: not provided
von Willebrand disease type 3
not specified
von Willebrand disease type 1
von Willebrand disease type 3

Criteria Provided
Conflicting Classifications

rs_377196768

6 SubmittersRCV000851609 RCV001003908 RCV000986085 RCV002466578 RCV003226383 RCV004596335

NM_000552.5(VWF):c.8052C>A (p.Tyr2684Ter)

SNV
Germline

Chr12:5952454

Conflicting classifications of pathogenicity

Hereditary von Willebrand disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1565806829

2 SubmittersRCV000778371 RCV004997302

NM_000552.5(VWF):c.7056C>T (p.Gly2352=)

SNV
Germline

Chr12:5983175

Likely pathogenic

Hereditary von Willebrand disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_746482504

2 SubmittersRCV000778375 RCV004997303

NM_000552.5(VWF):c.2303G>A (p.Arg768Gln)

SNV
Germline

Chr12:6044430

Likely pathogenic

Hereditary von Willebrand disease

Criteria Provided
Single Submitter

rs_772203447

1 SubmittersRCV000778379

NM_000552.5(VWF):c.7393G>A (p.Val2465Met)

SNV
Unknown

Chr12:5976155

Likely pathogenic

von Willebrand disease type 2

Criteria Provided
Single Submitter

rs_375655409

1 SubmittersRCV003333329

NM_000552.5(VWF):c.4690C>T (p.Arg1564Trp)

SNV
Germline

Chr12:6018728

Conflicting classifications of pathogenicity

not specified
von Willebrand disease type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_370854023

3 SubmittersRCV001001989 RCV003447571 RCV004720028

NM_000552.5(VWF):c.4580G>A (p.Arg1527Gln)

SNV
Germline

Chr12:6018838

Conflicting classifications of pathogenicity

von Willebrand disease type 1

Criteria Provided
Conflicting Classifications

rs_780538558

2 SubmittersRCV001027679

NM_000552.5(VWF):c.55+15G>A

SNV
Germline

Chr12:6123127

Conflicting classifications of pathogenicity

Hereditary von Willebrand disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201377447

2 SubmittersRCV001110387 RCV003736980

NM_000552.5(VWF):c.7770+1G>T

SNV
Germline

Chr12:5968126

Pathogenic

von Willebrand disease type 2
von Willebrand disease type 3

Criteria Provided
Single Submitter

rs_200770256

2 SubmittersRCV001197641 RCV001787125

NM_000552.5(VWF):c.3692A>G (p.Asn1231Ser)

SNV
Germline

Chr12:6019726

Conflicting classifications of pathogenicity

von Willebrand disease type 3
not specified
Condition: not provided
von Willebrand disease type 1
Hereditary von Willebrand disease

Criteria Provided
Conflicting Classifications

rs_61749368

8 SubmittersRCV001787126 RCV001824942 RCV002225814 RCV002280902 RCV003447581

NM_000552.5(VWF):c.7580C>A (p.Pro2527His)

SNV
Unknown

Chr12:5969360

Likely pathogenic

von Willebrand disease type 1

No Assertion Criteria Provided

rs_1943442849

1 SubmittersRCV001260928

NM_000552.5(VWF):c.338A>G (p.Tyr113Cys)

SNV
Germline

Chr12:6110568

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
von Willebrand disease type 1
not specified

Criteria Provided
Conflicting Classifications

rs_374854636

4 SubmittersRCV001284260 RCV002537931 RCV003989670 RCV004800961

NM_000552.5(VWF):c.5235G>A (p.Trp1745Ter)

SNV
Unknown

Chr12:6016592

Pathogenic

von Willebrand disease type 3

Criteria Provided
Single Submitter

rs_267607352

1 SubmittersRCV001787130

NM_000552.5(VWF):c.8155+6T>C

SNV
Germline

Chr12:5951838

Conflicting classifications of pathogenicity

von Willebrand disease type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1223422347

3 SubmittersRCV001787143 RCV004699348

NM_000552.5(VWF):c.8155+1G>T

SNV
Germline

Chr12:5951843

Likely pathogenic

von Willebrand disease type 3

No Assertion Criteria Provided

rs_1943194455

1 SubmittersRCV001787141

NM_000552.5(VWF):c.7887+2T>A

SNV
Germline

Chr12:5967484

Conflicting classifications of pathogenicity

von Willebrand disease type 1
Condition: not provided
von Willebrand disease type 3
Hereditary von Willebrand disease

Criteria Provided
Conflicting Classifications

rs_113814258

4 SubmittersRCV002222706 RCV001751744 RCV001787140 RCV003399190

NM_000552.5(VWF):c.7514C>A (p.Ser2505Ter)

SNV
Germline

Chr12:5971633

Pathogenic

von Willebrand disease type 3

No Assertion Criteria Provided

rs_2136358550

1 SubmittersRCV001787223

NM_000552.5(VWF):c.6973T>A (p.Cys2325Ser)

SNV
Germline

Chr12:5985048

Likely pathogenic

von Willebrand disease type 3

No Assertion Criteria Provided

rs_1256082707

1 SubmittersRCV001787209

NM_000552.5(VWF):c.6847T>C (p.Cys2283Arg)

SNV
Germline

Chr12:5985617

Likely pathogenic

von Willebrand disease type 3

No Assertion Criteria Provided

rs_2136376158

1 SubmittersRCV001787206

NM_000552.5(VWF):c.6551G>C (p.Cys2184Ser)

SNV
Germline

Chr12:5993909

Likely pathogenic

von Willebrand disease type 3

No Assertion Criteria Provided

rs_2136385288

1 SubmittersRCV001787203

NM_000552.5(VWF):c.6236C>G (p.Ser2079Ter)

SNV
Germline

Chr12:5994435

Pathogenic

von Willebrand disease type 3

No Assertion Criteria Provided

rs_2136385927

1 SubmittersRCV001787201

NM_000552.5(VWF):c.5791C>T (p.Gln1931Ter)

SNV
Germline

Chr12:6011668

Pathogenic

von Willebrand disease type 3

No Assertion Criteria Provided

rs_1359172781

1 SubmittersRCV001787183

NM_000552.5(VWF):c.5170+1G>A

SNV
Germline

Chr12:6016753

Likely pathogenic

von Willebrand disease type 3
Hereditary von Willebrand disease

Criteria Provided
Single Submitter

rs_764543553

2 SubmittersRCV001787178 RCV003399191

NM_000552.5(VWF):c.5096C>T (p.Ser1699Phe)

SNV
Germline

Chr12:6016828

Likely pathogenic

von Willebrand disease type 3
von Willebrand disease type 2

Criteria Provided
Single Submitter

rs_2136409487

2 SubmittersRCV001787176 RCV002264781

NM_000552.5(VWF):c.4978G>T (p.Glu1660Ter)

SNV
Germline

Chr12:6018440

Pathogenic

von Willebrand disease type 3

No Assertion Criteria Provided

rs_2136411489

1 SubmittersRCV001787139

NM_000552.5(VWF):c.4792G>T (p.Glu1598Ter)

SNV
Germline

Chr12:6018626

Pathogenic

von Willebrand disease type 3

No Assertion Criteria Provided

rs_753701755

1 SubmittersRCV001787138

NM_000552.5(VWF):c.3360G>A (p.Trp1120Ter)

SNV
Germline

Chr12:6023650

Pathogenic

von Willebrand disease type 3

No Assertion Criteria Provided

rs_2136418333

1 SubmittersRCV001787217

NM_000552.5(VWF):c.2902A>T (p.Lys968Ter)

SNV
Germline

Chr12:6029407

Pathogenic

von Willebrand disease type 3

No Assertion Criteria Provided

rs_1944232310

1 SubmittersRCV001787211

NM_000552.5(VWF):c.2753C>G (p.Ser918Ter)

SNV
Germline

Chr12:6031511

Pathogenic

von Willebrand disease type 3

No Assertion Criteria Provided

rs_2136426808

1 SubmittersRCV001787210

NM_000552.5(VWF):c.2430C>A (p.Cys810Ter)

SNV
Germline

Chr12:6044303

Pathogenic

von Willebrand disease type 3

No Assertion Criteria Provided

rs_746648486

1 SubmittersRCV001787197

NM_000552.5(VWF):c.2377C>T (p.Gln793Ter)

SNV
Germline

Chr12:6044356

Pathogenic

von Willebrand disease type 3
Condition: not provided

Criteria Provided
Single Submitter

rs_2136440316

2 SubmittersRCV001787193 RCV003478805

NM_000552.5(VWF):c.2376C>G (p.Cys792Trp)

SNV
Germline

Chr12:6044357

Likely pathogenic

von Willebrand disease type 3

No Assertion Criteria Provided

rs_2136440319

1 SubmittersRCV001787192

NM_000552.5(VWF):c.1693C>T (p.Gln565Ter)

SNV
Germline

Chr12:6057885

Pathogenic

von Willebrand disease type 3

No Assertion Criteria Provided

rs_750364485

1 SubmittersRCV001787166

NM_000552.5(VWF):c.1659G>A (p.Trp553Ter)

SNV
Germline

Chr12:6057919

Pathogenic

von Willebrand disease type 3

No Assertion Criteria Provided

rs_2136455808

1 SubmittersRCV001787165

NM_000552.5(VWF):c.1320C>A (p.Cys440Ter)

SNV
Germline

Chr12:6064358

Pathogenic

von Willebrand disease type 3

No Assertion Criteria Provided

rs_1381910966

1 SubmittersRCV001787162

NM_000552.5(VWF):c.1130G>A (p.Trp377Ter)

SNV
Germline

Chr12:6071323

Pathogenic

von Willebrand disease type 3

No Assertion Criteria Provided

rs_1321160729

1 SubmittersRCV001787160

NM_000552.5(VWF):c.1116C>A (p.Cys372Ter)

SNV
Germline

Chr12:6071337

Pathogenic

von Willebrand disease type 3

No Assertion Criteria Provided

rs_1250492485

1 SubmittersRCV001787159

NM_000552.5(VWF):c.646G>T (p.Glu216Ter)

SNV
Germline

Chr12:6095471

Pathogenic

von Willebrand disease type 3

No Assertion Criteria Provided

rs_767837153

1 SubmittersRCV001787202

NM_000552.5(VWF):c.592C>T (p.Gln198Ter)

SNV
Germline

Chr12:6095525

Likely pathogenic

von Willebrand disease type 3

No Assertion Criteria Provided

rs_2136500386

1 SubmittersRCV001787184

NM_000552.5(VWF):c.310C>T (p.Gln104Ter)

SNV
Germline

Chr12:6110879

Pathogenic

von Willebrand disease type 3

No Assertion Criteria Provided

rs_2136522699

1 SubmittersRCV001787213

NM_000552.5(VWF):c.229C>T (p.Gln77Ter)

SNV
Germline

Chr12:6110960

Pathogenic

von Willebrand disease type 3

No Assertion Criteria Provided

rs_2136522827

1 SubmittersRCV001787188

NM_000552.5(VWF):c.2981G>T (p.Gly994Val)

SNV
Germline

Chr12:6026033

Conflicting classifications of pathogenicity

von Willebrand disease type 1
Heterotopia, periventricular, X-linked dominant

Criteria Provided
Conflicting Classifications

rs_1591867991

1 SubmittersRCV001420364 RCV004813172

NM_000552.5(VWF):c.1730-1G>T

SNV
Germline

Chr12:6057073

Pathogenic

von Willebrand disease type 1

Criteria Provided
Single Submitter

rs_1591889534

1 SubmittersRCV001420369

NM_000552.5(VWF):c.1110-1G>T

SNV
Germline

Chr12:6071344

Pathogenic

von Willebrand disease type 1

Criteria Provided
Single Submitter

rs_61754005

1 SubmittersRCV001420370

NM_000552.5(VWF):c.221-2A>C

SNV
Germline

Chr12:6110970

Pathogenic

von Willebrand disease type 1

No Assertion Criteria Provided

rs_1195620730

1 SubmittersRCV001774767

NM_000552.5(VWF):c.6535T>C (p.Ser2179Pro)

SNV
Germline

Chr12:5993925

Pathogenic

von Willebrand disease type 1

No Assertion Criteria Provided

rs_2136385329

1 SubmittersRCV001774768

NM_000552.5(VWF):c.322A>T (p.Arg108Ter)

SNV
Germline

Chr12:6110867

Pathogenic

von Willebrand disease type 1

No Assertion Criteria Provided

rs_2136522667

1 SubmittersRCV001774769

NM_000552.5(VWF):c.323+1G>T

SNV
Germline

Chr12:6110865

Pathogenic

von Willebrand disease type 1

No Assertion Criteria Provided

rs_2136522662

1 SubmittersRCV001774770

NM_000552.5(VWF):c.2547-13T>A

SNV
Germline

Chr12:6034839

Pathogenic

von Willebrand disease type 1

No Assertion Criteria Provided

rs_2136430770

1 SubmittersRCV001774772

NM_000552.5(VWF):c.2684A>G (p.Gln895Arg)

SNV
Germline

Chr12:6034689

Pathogenic

von Willebrand disease type 1

No Assertion Criteria Provided

rs_2136430552

1 SubmittersRCV001774773

NM_000552.5(VWF):c.2968-14A>G

SNV
Germline

Chr12:6026060

Pathogenic

von Willebrand disease type 1

No Assertion Criteria Provided

rs_1201852829

1 SubmittersRCV001774774

NM_000552.5(VWF):c.4892G>A (p.Gly1631Asp)

SNV
Germline

Chr12:6018526

Pathogenic/Likely pathogenic

von Willebrand disease type 1
von Willebrand disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_2136411659

3 SubmittersRCV001838831 RCV002243467

NM_000552.5(VWF):c.6551G>A (p.Cys2184Tyr)

SNV
Germline

Chr12:5993909

Likely pathogenic

von Willebrand disease type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2136385288

2 SubmittersRCV002223126

NM_000552.5(VWF):c.3923G>T (p.Arg1308Leu)

SNV
Germline

Chr12:6019495

Likely pathogenic

Hereditary von Willebrand disease
von Willebrand disease type 2

No Assertion Criteria Provided

rs_61749388

2 SubmittersRCV002227921 RCV002243531

NM_000552.5(VWF):c.4551C>G (p.Ser1517Arg)

SNV
Germline

Chr12:6018867

Likely pathogenic

von Willebrand disease type 2

No Assertion Criteria Provided

rs_2136412350

1 SubmittersRCV002244520

NM_000552.5(VWF):c.4733C>A (p.Thr1578Asn)

SNV
Germline

Chr12:6018685

Pathogenic

von Willebrand disease type 2

No Assertion Criteria Provided

rs_2136411988

1 SubmittersRCV002244521

NM_000552.5(VWF):c.3389G>A (p.Cys1130Tyr)

SNV
Germline

Chr12:6022889

Likely pathogenic

von Willebrand disease type 2

Criteria Provided
Single Submitter

rs_267607324

2 SubmittersRCV002244523

NM_000552.5(VWF):c.4885G>C (p.Gly1629Arg)

SNV
Germline

Chr12:6018533

Likely pathogenic

von Willebrand disease type 2

No Assertion Criteria Provided

rs_61750585

1 SubmittersRCV002244527

NM_000552.5(VWF):c.2546G>A (p.Cys849Tyr)

SNV
Germline

Chr12:6036388

Likely pathogenic

von Willebrand disease type 2
Von Willebrand disease type 2A

Reviewed By Expert Panel

rs_772796741

2 SubmittersRCV002244528 RCV004821325

NM_000552.5(VWF):c.3515G>T (p.Gly1172Val)

SNV
Germline

Chr12:6022763

Likely pathogenic

von Willebrand disease type 2

No Assertion Criteria Provided

rs_1555195293

1 SubmittersRCV002244529

NM_000552.5(VWF):c.3928T>C (p.Ser1310Pro)

SNV
Germline

Chr12:6019490

Likely pathogenic

von Willebrand disease type 2

No Assertion Criteria Provided

rs_2136413535

1 SubmittersRCV002244530

NM_000552.5(VWF):c.5146G>C (p.Ala1716Pro)

SNV
Germline

Chr12:6016778

Likely pathogenic

von Willebrand disease type 2
von Willebrand disease type 1

Criteria Provided
Single Submitter

rs_1194776238

2 SubmittersRCV002244536 RCV002264839

NM_000552.5(VWF):c.4883T>A (p.Ile1628Asn)

SNV
Germline

Chr12:6018535

Pathogenic

von Willebrand disease type 2

No Assertion Criteria Provided

rs_61750584

1 SubmittersRCV002244540

NM_000552.5(VWF):c.2546+3G>C

SNV
Germline

Chr12:6036385

Likely pathogenic

von Willebrand disease type 2

No Assertion Criteria Provided

rs_1565838728

1 SubmittersRCV002244541

NM_000552.5(VWF):c.3380-2A>G

SNV
Germline

Chr12:6022900

Pathogenic

von Willebrand disease type 2

No Assertion Criteria Provided

rs_2136417619

1 SubmittersRCV002244542

NM_000552.5(VWF):c.4970T>C (p.Leu1657Pro)

SNV
Germline

Chr12:6018448

Likely pathogenic

von Willebrand disease type 2

No Assertion Criteria Provided

rs_61750593

1 SubmittersRCV002244552

NM_000552.5(VWF):c.5087T>G (p.Leu1696Arg)

SNV
Germline

Chr12:6016837

Likely pathogenic

Hereditary von Willebrand disease
von Willebrand disease type 1

Criteria Provided
Single Submitter

rs_2136409514

1 SubmittersRCV002245486 RCV003313799

NM_000552.5(VWF):c.3926T>A (p.Ile1309Asn)

SNV
Unknown

Chr12:6019492

Likely pathogenic

Hereditary von Willebrand disease

No Assertion Criteria Provided

rs_2136413547

1 SubmittersRCV002245489

NM_000552.5(VWF):c.5793G>C (p.Gln1931His)

SNV
Germline

Chr12:6011666

Pathogenic

von Willebrand disease type 1

Criteria Provided
Single Submitter

rs_574811308

1 SubmittersRCV002246810

NM_000552.5(VWF):c.4276C>A (p.Arg1426Ser)

SNV
Unknown

Chr12:6019142

Likely pathogenic

Hereditary von Willebrand disease

No Assertion Criteria Provided

rs_555366738

1 SubmittersRCV002254236

NM_000552.5(VWF):c.7987C>T (p.Arg2663Cys)

SNV
Germline

Chr12:5952519

Pathogenic/Likely pathogenic

von Willebrand disease type 1
Von Willebrand disease type 2B

Criteria Provided
Multiple Submitters
No Conflicts

rs_370662678

2 SubmittersRCV002264849 RCV003447621

NM_000552.5(VWF):c.1708T>C (p.Cys570Arg)

SNV
Germline

Chr12:6057870

Likely pathogenic

von Willebrand disease type 2

Criteria Provided
Single Submitter

rs_2136455744

1 SubmittersRCV002264850

NM_000552.5(VWF):c.1955G>T (p.Cys652Phe)

SNV
Germline

Chr12:6052774

Likely pathogenic

von Willebrand disease type 1

Criteria Provided
Single Submitter

rs_1438247325

1 SubmittersRCV002264851

NM_000552.5(VWF):c.3108+2T>G

SNV
Germline

Chr12:6025904

Pathogenic

von Willebrand disease type 1

Criteria Provided
Single Submitter

rs_2136420816

1 SubmittersRCV002264854

NM_000552.5(VWF):c.3845T>C (p.Leu1282Pro)

SNV
Germline

Chr12:6019573

Conflicting classifications of pathogenicity

von Willebrand disease type 2
Condition: not provided
Von Willebrand disease type 2B

Criteria Provided
Conflicting Classifications

rs_61749378

3 SubmittersRCV002264858 RCV003738173 RCV003447622

NM_000552.5(VWF):c.4263C>A (p.Asn1421Lys)

SNV
Germline

Chr12:6019155

Likely pathogenic

von Willebrand disease type 2

Criteria Provided
Single Submitter

rs_61750082

1 SubmittersRCV002264860

NM_000552.5(VWF):c.4625A>G (p.Tyr1542Cys)

SNV
Germline

Chr12:6018793

Likely pathogenic

von Willebrand disease type 2

Criteria Provided
Single Submitter

rs_2136412168

1 SubmittersRCV002264863

NM_000552.5(VWF):c.4710C>A (p.Tyr1570Ter)

SNV
Germline

Chr12:6018708

Pathogenic

von Willebrand disease type 3

Criteria Provided
Single Submitter

rs_2136412017

1 SubmittersRCV002264865

NM_000552.5(VWF):c.4752C>A (p.Tyr1584Ter)

SNV
Germline

Chr12:6018666

Pathogenic

von Willebrand disease type 3

Criteria Provided
Single Submitter

rs_1475440343

1 SubmittersRCV002264866

NM_000552.5(VWF):c.6743G>A (p.Cys2248Tyr)

SNV
Germline

Chr12:5991874

Pathogenic

von Willebrand disease type 1

Criteria Provided
Single Submitter

rs_2136382972

1 SubmittersRCV002264872

NM_000552.5(VWF):c.4249G>T (p.Gly1417Trp)

SNV
Germline

Chr12:6019169

Likely pathogenic

von Willebrand disease type 2

Criteria Provided
Single Submitter

rs_2136412846

1 SubmittersRCV002272594

NM_000552.5(VWF):c.7563G>A (p.Trp2521Ter)

SNV
Germline

Chr12:5969377

Pathogenic

von Willebrand disease type 3

Criteria Provided
Single Submitter

1 SubmittersRCV002283992

NM_000552.5(VWF):c.1156+1G>A

SNV
Germline

Chr12:6071296

Likely pathogenic

Hereditary von Willebrand disease

Criteria Provided
Single Submitter

1 SubmittersRCV002308676

NM_000552.5(VWF):c.6798+2T>A

SNV
Germline

Chr12:5991817

Pathogenic

von Willebrand disease type 3

Criteria Provided
Single Submitter

1 SubmittersRCV002466792

NM_000552.5(VWF):c.573G>C (p.Trp191Cys)

SNV
Germline

Chr12:6095544

Likely pathogenic

Von Willebrand disease type 2B

Criteria Provided
Single Submitter

1 SubmittersRCV002466844

NM_000552.5(VWF):c.3569G>T (p.Cys1190Phe)

SNV
Germline

Chr12:6022005

Likely pathogenic

von Willebrand disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV003313897

NM_000552.5(VWF):c.4342C>T (p.Gln1448Ter)

SNV
Germline

Chr12:6019076

Likely pathogenic

von Willebrand disease type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003314540

NM_000552.5(VWF):c.3538+1G>C

SNV
Germline

Chr12:6022739

Likely pathogenic

Hereditary von Willebrand disease

Criteria Provided
Single Submitter

1 SubmittersRCV003479616

NM_000552.5(VWF):c.6697G>T (p.Glu2233Ter)

SNV
Germline

Chr12:5991920

Pathogenic

Hereditary von Willebrand disease

Criteria Provided
Single Submitter

1 SubmittersRCV003479819

NM_000552.5(VWF):c.2968-1G>A

SNV
Germline

Chr12:6026047

Likely pathogenic

Hereditary von Willebrand disease

Criteria Provided
Single Submitter

1 SubmittersRCV004018210

NM_000552.5(VWF):c.1181C>G (p.Ser394Ter)

SNV
Germline

Chr12:6065249

Likely pathogenic

Hereditary von Willebrand disease

Criteria Provided
Single Submitter

1 SubmittersRCV004018258

NM_000552.5(VWF):c.1506G>A (p.Trp502Ter)

SNV
Germline

Chr12:6062981

Likely pathogenic

Hereditary von Willebrand disease

Criteria Provided
Single Submitter

1 SubmittersRCV004018297

NM_000552.5(VWF):c.6211C>T (p.Gln2071Ter)

SNV
Germline

Chr12:5994460

Pathogenic

von Willebrand disease type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004771387

NM_000552.5(VWF):c.2546G>T (p.Cys849Phe)

SNV
Germline

Chr12:6036388

Likely pathogenic

Hereditary von Willebrand disease

Criteria Provided
Single Submitter

1 SubmittersRCV004799024

NM_000552.5(VWF):c.2637C>A (p.Asp879Glu)

SNV
Germline

Chr12:6034736

Likely pathogenic

von Willebrand disease type 2N

Reviewed By Expert Panel

1 SubmittersRCV004812536

NM_000552.5(VWF):c.4225G>T (p.Val1409Phe)

SNV
Germline

Chr12:6019193

Likely pathogenic

von Willebrand disease type 2M

Reviewed By Expert Panel

1 SubmittersRCV004821400

NM_000552.5(VWF):c.6871T>C (p.Cys2291Arg)

SNV
Unknown

Chr12:5985593

Likely pathogenic

von Willebrand disease type 3

Criteria Provided
Single Submitter

1 SubmittersRCV005002124