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Items: 1 to 100 of 711

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr12:6219488-6220144
GRCh38:
Chr12:6110322-6110978
VWFvon Willebrand disorderPathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627516
2.
GRCh37:
Chr12:6219510-6220140
GRCh38:
Chr12:6110344-6110974
VWFvon Willebrand disorderLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627515
3.
GRCh37:
Chr12:6120732-6121343
GRCh38:
Chr12:6011566-6012177
VWFvon Willebrand disorderPathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627514
4.
GRCh37:
Chr12:6204574-6204798
GRCh38:
Chr12:6095408-6095632
VWFVon Willebrand disease, recessive formLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627513
5.
GRCh37:
Chr22:19709435-19712313
GRCh38:
Chr22:19721912-19724790
GP1BB, SEPTIN5, SEPT5-GP1BBAbnormal bleeding, MacrothrombocytopeniaConflicting interpretations of pathogenicity
(Feb 1, 2019)
criteria provided, conflicting interpretationsVCV000627512
6.
GRCh37:
Chr3:93591831-93692960
PROS1Protein S deficiency diseaseLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627511
7.
GRCh37:
Chr22:19710418-21142058
Deep venous thrombosisLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627510
8.
GRCh37:
Chr17:45380058-45380230
GRCh38:
Chr17:47302692-47302864
ITGB3MacrothrombocytopeniaLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627509
9.
GRCh37:
Chr21:36160048-36421645
RUNX1ThrombocytopeniaLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627508
10.
GRCh37:
Chr1:173880887-173886566
GRCh38:
Chr1:173911749-173917428
SERPINC1Reduced antithrombin III activityLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627507
11.
GRCh37:
Chr22:19709400-21142058
Abnormal bleedingLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627506
12.
GRCh37:
Chr4:187186066-187210839
F11Hereditary factor X deficiency diseaseLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627505
13.
GRCh37:
ChrX:154212912-154213128
GRCh38:
ChrX:154984637-154984853
F8Hereditary factor IX deficiency diseaseLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627504
14.
GRCh37:
ChrX:154156796-154227925
F8Hereditary factor IX deficiency diseaseLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627503
15.
GRCh37:
Chr1:173885426-173887540
GRCh38:
Chr1:173916288-173918402
SERPINC1Reduced antithrombin III activityLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627502
16.
GRCh37:
Chr1:173876538-173876702
GRCh38:
Chr1:173907400-173907564
SERPINC1Reduced antithrombin III activityLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627501
17.
GRCh37:
Chr1:173872897-173886566
SERPINC1Reduced antithrombin III activityLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627500
18.
GRCh37:
Chr5:140903674-140903846
GRCh38:
Chr5:141524107-141524279
DIAPH1MacrothrombocytopeniaLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627499
19.
GRCh37:
Chr12:12022308-12022953
GRCh38:
Chr12:11869374-11870019
ETV6ThrombocytopeniaUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000627498
20.
GRCh37:
Chr11:128556380-128681341
FLI111q partial monosomy syndromeLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627497
21.
GRCh37:
ChrX:138633185-138633506
GRCh38:
ChrX:139551026-139551347
F9Hereditary factor VIII deficiency diseasePathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627496
22.
GRCh37:
Chr13:113801643-113801845
GRCh38:
Chr13:113147329-113147531
F10Abnormal bleedingLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627495
23.
GRCh37:
Chr7:100770319-100770574
GRCh38:
Chr7:101127038-101127293
SERPINE1Abnormal bleedingLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627494
24.
GRCh37:
Chr10:27389373
GRCh38:
Chr10:27100444
ANKRD26ThrombocytopeniaLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627410
25.
GRCh37:
Chr22:36745183
GRCh38:
Chr22:36349138
MYH9W33CMYH9-related disorderPathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627409
26.
GRCh37:
Chr11:46748114
GRCh38:
Chr11:46726564
F2R314HProlonged prothrombin timeLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627408
27.
GRCh37:
ChrX:154197689
GRCh38:
ChrX:154969414
F8P309LHereditary factor IX deficiency diseaseUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000627407
28.
GRCh37:
Chr4:155507659
GRCh38:
Chr4:154586507
FGAR308*HypofibrinogenemiaLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627406
29.
GRCh37:
Chr3:93615472
GRCh38:
Chr3:93896628
PROS1Q305*, Q337*Protein S deficiency diseaseLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627405
30.
GRCh37:
Chr1:169525925
GRCh38:
Chr1:169556687
F5G304EFactor V deficiency, ThromboembolismConflicting interpretations of pathogenicity
(Feb 1, 2019)
criteria provided, conflicting interpretationsVCV000627404
31.
GRCh37:
Chr13:113772832
GRCh38:
Chr13:113118518
F7A282V, A304V, A220Vnot provided, Factor VII deficiencyPathogenic/Likely pathogenic
(Jan 18, 2021)
criteria provided, multiple submitters, no conflictsVCV000627403
32.
GRCh37:
Chr2:128186044
GRCh38:
Chr2:127428468
PROCL303R, L284R, L295R, L301R, L324R, L337R, L358R, L359R, L364R, L365RReduced protein C activityUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000627402
33.
GRCh37:
Chr18:57013202
GRCh38:
Chr18:59345970
LMAN1K302*Combined deficiency of factor V and factor VIII, 1Likely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627401
34.
GRCh37:
ChrX:138613011
GRCh38:
ChrX:139530852
F9V30LHereditary factor VIII deficiency diseasePathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627400
35.
GRCh37:
Chr12:6058316
GRCh38:
Chr12:5949150
VWFD2769Evon Willebrand disorderUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000627399
36.
GRCh37:
Chr12:6058347
GRCh38:
Chr12:5949181
VWFM2759Tvon Willebrand disorderUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000627398
37.
GRCh37:
Chr12:6058348
GRCh38:
Chr12:5949182
VWFM2759Vvon Willebrand disorderUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000627397
38.
GRCh37:
Chr8:42039518
GRCh38:
Chr8:42182000
PLATP276S, P230S, P187SPulmonary embolism, Deep venous thrombosisUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000627396
39.
GRCh37:
ChrX:48651658
GRCh38:
ChrX:48793251
GATA1G275AMacrothrombocytopeniaUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000627395
40.
GRCh37:
Chr12:6058990
GRCh38:
Chr12:5949824
VWFC2739Rvon Willebrand disorderUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000627394
41.
GRCh37:
Chr2:128185955
GRCh38:
Chr2:127428379
PROCW273C, W254C, W265C, W271C, W294C, W307C, W328C, W329C, W334C, W335CReduced protein C activityUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000627393
42.
GRCh37:
Chr13:113772727-113772741
GRCh38:
Chr13:113118413-113118427
F7Factor VII deficiencyLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627392
43.
GRCh37:
ChrX:48651650
GRCh38:
ChrX:48793243
GATA1N272KThrombocytopeniaUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000627391
44.
GRCh37:
Chr12:6184561
GRCh38:
Chr12:6075395
VWFA272Pvon Willebrand disorderUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000627390
45.
GRCh37:
Chr11:64504511-64504522
GRCh38:
Chr11:64737039-64737050
RASGRP2Abnormal platelet aggregationLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627389
46.
GRCh37:
Chr3:184090557-184090558
GRCh38:
Chr3:184372769-184372770
THPOL269fs, L409fs, L265fsMacrothrombocytopeniaUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000627388
47.
GRCh37:
Chr13:113771900-113771936
GRCh38:
Chr13:113117586-113117622
F7Factor VII deficiencyUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000627387
48.
GRCh37:
Chr12:6076676
GRCh38:
Chr12:5967510
VWFT2622fsVon Willebrand disease, recessive formLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627386
49.
GRCh37:
Chr3:93617356
GRCh38:
Chr3:93898512
PROS1G294fs, G262fsProtein S deficiency diseasePathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627385
50.
GRCh37:
Chr21:36206728
GRCh38:
Chr21:34834431
RUNX1Q262*, Q235*Storage pool disease of plateletsLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627384
51.
GRCh37:
Chr12:6076690
GRCh38:
Chr12:5967524
VWFL2617MAbnormality of coagulationUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000627383
52.
GRCh37:
Chr10:103826010
GRCh38:
Chr10:102066253
HPS6G260EHermansky-Pudlak syndromeLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627382
53.
GRCh37:
Chr20:23029364
GRCh38:
Chr20:23048727
THBDP260AAbnormal bleedingUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000627381
54.
GRCh37:
Chr2:44052160
GRCh38:
Chr2:43825021
ABCG5, DYNC2LI1ThrombocytopeniaUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000627380
55.
GRCh37:
Chr11:64506872
GRCh38:
Chr11:64739400
RASGRP2L258P, L113PAbnormal platelet aggregationLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627379
56.
GRCh37:
Chr20:57599255
GRCh38:
Chr20:59024200
TUBB1V258AThrombocytopeniaUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000627378
57.
GRCh37:
Chr1:169526063
GRCh38:
Chr1:169556825
F5L258PFactor V deficiencyUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000627377
58.
GRCh37:
Chr12:6077331
GRCh38:
Chr12:5968165
VWFR2578Cvon Willebrand disorderLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627376
59.
GRCh37:
Chr12:6077334
GRCh38:
Chr12:5968168
VWFVon Willebrand disease, recessive form, von Willebrand disease type 1Likely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627375
60.
GRCh37:
Chr1:173879072
GRCh38:
Chr1:173909934
SERPINC1Reduced antithrombin III activityLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627374
61.
GRCh37:
Chr12:6085315
GRCh38:
Chr12:5976149
VWFQ2467*Von Willebrand disease, recessive formLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627373
62.
GRCh37:
Chr3:47049067
GRCh38:
Chr3:47007577
NBEAL2Q2463*, Q2429*Gray platelet syndromePathogenic
(Mar 1, 2020)
criteria provided, single submitterVCV000627372
63.
GRCh37:
Chr12:6085362
GRCh38:
Chr12:5976196
VWFC2451Yvon Willebrand disorderLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627371
64.
GRCh37:
ChrX:154213016
GRCh38:
ChrX:154984741
F8R245WHereditary factor IX deficiency disease, not providedLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627370
65.
GRCh37:
Chr4:187197520
GRCh38:
Chr4:186276366
F11Q244RPlasma factor XI deficiency, Hereditary factor XI deficiency disease, not provided
Conflicting interpretations of pathogenicity
(Dec 4, 2020)
criteria provided, conflicting interpretationsVCV000627369
66.
GRCh37:
Chr4:187197517
GRCh38:
Chr4:186276363
F11S243FHereditary factor XI deficiency diseaseLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627368
67.
GRCh37:
Chr12:6090984-6090985
GRCh38:
Chr12:5981818-5981819
VWFC2418fsVon Willebrand disease, recessive formPathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627367
68.
GRCh37:
ChrX:138642888-138642900
GRCh38:
ChrX:139560729-139560741
F9Hereditary factor VIII deficiency diseaseLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627366
69.
GRCh37:
Chr2:128184717
GRCh38:
Chr2:127427141
PROCG239R, G220R, G231R, G237R, G260R, G273R, G294R, G295R, G300R, G301RDeep venous thrombosisLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627365
70.
GRCh37:
Chr19:3599920
GRCh38:
Chr19:3599922
TBXA2RD238GImpaired thromboxane A2 agonist-induced platelet aggregationUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000627364
71.
GRCh37:
Chr12:6092317
GRCh38:
Chr12:5983151
VWFC2360*Abnormality of coagulationPathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627363
72.
GRCh37:
Chr10:103825933-103825934
GRCh38:
Chr10:102066176-102066177
HPS6S236fsHermansky-Pudlak syndromeLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627362
73.
GRCh37:
Chr11:64506941
GRCh38:
Chr11:64739469
RASGRP2L235P, L90PAbnormal platelet aggregationLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627361
74.
GRCh37:
Chr13:113798364
GRCh38:
Chr13:113144050
F10R234S, R190SHereditary factor X deficiency diseaseUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000627360
75.
GRCh37:
ChrX:154090031
GRCh38:
ChrX:154861756
F8L2229F, L94FAbnormality of coagulationPathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627359
76.
GRCh37:
Chr3:47047073-47047075
GRCh38:
Chr3:47005583-47005585
NBEAL2F2186del, F2220delThrombocytopeniaUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000627358
77.
GRCh37:
Chr3:47047075
GRCh38:
Chr3:47005585
NBEAL2F2219L, F2185LGray platelet syndromeLikely pathogenic
(Mar 1, 2020)
criteria provided, single submitterVCV000627357
78.
GRCh37:
ChrX:154090124
GRCh38:
ChrX:154861849
F8G2198R, G63RHereditary factor IX deficiency diseaseLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627356
79.
GRCh37:
Chr17:4836557
GRCh38:
Chr17:4933262
GP1BAG220RMacrothrombocytopeniaUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000627355
80.
GRCh37:
Chr12:6103073
GRCh38:
Chr12:5993907
VWFR2185WAbnormality of coagulation, von Willebrand disease type 1, not provided
Uncertain significance
(Aug 19, 2019)
criteria provided, multiple submitters, no conflictsVCV000627354
81.
GRCh37:
Chr12:6103088
GRCh38:
Chr12:5993922
VWFY2180Hvon Willebrand disorderUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000627353
82.
GRCh37:
ChrX:48650783
GRCh38:
ChrX:48792376
GATA1D218NMacrothrombocytopeniaLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627352
83.
GRCh37:
Chr14:69371396
GRCh38:
Chr14:68904679
ACTN1I218VThrombocytopeniaUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000627351
84.
GRCh37:
Chr14:69371398
GRCh38:
Chr14:68904681
ACTN1D217GMacrothrombocytopeniaUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000627350
85.
GRCh37:
Chr1:169489772
GRCh38:
Chr1:169520534
F5G2060DThromboembolismUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000627349
86.
GRCh37:
Chr3:184090752-184090753
GRCh38:
Chr3:184372964-184372965
THPOE200fs, E204fs, D166fs, D199fs, E344fsThrombocytopenia, Abnormal bleeding, Macrothrombocytopenia
Uncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000627348
87.
GRCh37:
ChrX:154130337
GRCh38:
ChrX:154902062
F8V2035AHereditary factor IX deficiency diseasePathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627347
88.
GRCh37:
ChrX:154130359
GRCh38:
ChrX:154902084
F8G2028RHereditary factor IX deficiency diseasePathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627346
89.
GRCh37:
Chr3:47032758-47032759
GRCh38:
Chr3:46991268-46991269
NBEAL2I203fs, I196fsGray platelet syndromePathogenic
(Mar 1, 2020)
criteria provided, single submitterVCV000627345
90.
GRCh37:
Chr3:151056034
GRCh38:
Chr3:151338246
MED12L, P2RY12I200MImpaired ADP-induced platelet aggregationUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000627344
91.
GRCh37:
Chr21:36231789
GRCh38:
Chr21:34859492
RUNX1G199R, G172RThrombocytopeniaUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000627343
92.
GRCh37:
Chr21:36231791
GRCh38:
Chr21:34859494
RUNX1D198V, D171VThrombocytopenia, Abnormal bleeding, Thrombocytopenia,
Familial platelet disorder with associated myeloid malignancy
Likely pathogenic
(Aug 18, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000627342
93.
GRCh37:
Chr1:173880969
GRCh38:
Chr1:173911831
SERPINC1Y198H, Y150H, Y225HReduced antithrombin III activityLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627341
94.
GRCh37:
ChrX:154132261
GRCh38:
ChrX:154903986
F8H1973LHereditary factor IX deficiency diseasePathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627340
95.
GRCh37:
Chr13:113771097
GRCh38:
Chr13:113116783
F7K175E, K197E, K113EAbnormal bleedingLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627339
96.
GRCh37:
ChrX:154132283
GRCh38:
ChrX:154904008
F8M1966LHereditary factor IX deficiency diseaseLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627338
97.
GRCh37:
Chr9:135864518
GRCh38:
Chr9:132989131
GFI1BC194YThrombocytopeniaUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000627337
98.
GRCh37:
Chr12:6120824
GRCh38:
Chr12:6011658
VWFV1934Gvon Willebrand disorderLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627336
99.
GRCh37:
Chr1:173881011
GRCh38:
Chr1:173911873
SERPINC1T185fs, T137fs, T212fsReduced antithrombin III activityLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627335
100.
GRCh37:
Chr12:6122796
GRCh38:
Chr12:6013630
VWFP1824Rvon Willebrand disorderLikely pathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000627334
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