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Items: 1 to 100 of 834

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
BAP1Tumor susceptibility linked to germline BAP1 mutationsPathogenic
(Aug 28, 2011)
no assertion criteria providedVCV000030304
2.
BAP1Tumor susceptibility linked to germline BAP1 mutationsPathogenic
(Aug 28, 2011)
no assertion criteria providedVCV000030303
3.
GRCh37:
Chr3:52435140
GRCh38:
Chr3:52401124
BAP1Tumor susceptibility linked to germline BAP1 mutationsLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000346103
4.
GRCh37:
Chr3:52435240
GRCh38:
Chr3:52401224
BAP1Tumor susceptibility linked to germline BAP1 mutationsUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000346104
5.
GRCh37:
Chr3:52435330
GRCh38:
Chr3:52401314
BAP1Tumor susceptibility linked to germline BAP1 mutationsLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000346105
6.
GRCh37:
Chr3:52435474
GRCh38:
Chr3:52401458
BAP1Tumor susceptibility linked to germline BAP1 mutationsUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000346106
7.
GRCh37:
Chr3:52435607
GRCh38:
Chr3:52401591
BAP1Tumor susceptibility linked to germline BAP1 mutationsUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000346107
8.
GRCh37:
Chr3:52435661
GRCh38:
Chr3:52401645
BAP1Tumor susceptibility linked to germline BAP1 mutationsLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000346108
9.
GRCh37:
Chr3:52435752
GRCh38:
Chr3:52401736
BAP1Tumor susceptibility linked to germline BAP1 mutationsUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000346109
10.
GRCh37:
Chr3:52435819
GRCh38:
Chr3:52401803
BAP1Tumor susceptibility linked to germline BAP1 mutationsUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000346110
11.
GRCh37:
Chr3:52435860
GRCh38:
Chr3:52401844
BAP1Tumor susceptibility linked to germline BAP1 mutationsLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000346111
12.
GRCh37:
Chr3:52436082
GRCh38:
Chr3:52402066
BAP1Tumor susceptibility linked to germline BAP1 mutationsUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000346112
13.
GRCh37:
Chr3:52436244
GRCh38:
Chr3:52402228
BAP1Tumor susceptibility linked to germline BAP1 mutationsUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000346113
14.
GRCh37:
Chr3:52436259
GRCh38:
Chr3:52402243
BAP1Tumor susceptibility linked to germline BAP1 mutationsBenign
(Jun 14, 2016)
criteria provided, single submitterVCV000346114
15.
GRCh37:
Chr3:52436267
GRCh38:
Chr3:52402251
BAP1Tumor susceptibility linked to germline BAP1 mutationsLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000346115
16.
GRCh37:
Chr3:52436284
GRCh38:
Chr3:52402268
BAP1Hereditary cancer-predisposing syndromeLikely benign
(Jun 13, 2017)
criteria provided, single submitterVCV000630476
17.
GRCh37:
Chr3:52436305
GRCh38:
Chr3:52402289
BAP1Tumor susceptibility linked to germline BAP1 mutations, Hereditary cancer-predisposing syndromeConflicting interpretations of pathogenicity
(Dec 28, 2018)
criteria provided, conflicting interpretationsVCV000629893
18.
GRCh37:
Chr3:52436311
GRCh38:
Chr3:52402295
BAP1R728PHereditary cancer-predisposing syndromeUncertain significance
(Jun 13, 2018)
criteria provided, single submitterVCV000629894
19.
GRCh37:
Chr3:52436311
GRCh38:
Chr3:52402295
BAP1R728LHereditary cancer-predisposing syndromeUncertain significance
(Aug 19, 2018)
criteria provided, single submitterVCV000489631
20.
GRCh37:
Chr3:52436319
GRCh38:
Chr3:52402303
BAP1Tumor susceptibility linked to germline BAP1 mutations, Hereditary cancer-predisposing syndromeConflicting interpretations of pathogenicity
(Oct 31, 2018)
criteria provided, conflicting interpretationsVCV000472693
21.
GRCh37:
Chr3:52436326
GRCh38:
Chr3:52402310
BAP1P723LHereditary cancer-predisposing syndromeUncertain significance
(Oct 12, 2018)
criteria provided, single submitterVCV000629990
22.
GRCh37:
Chr3:52436327
GRCh38:
Chr3:52402311
BAP1P723STumor susceptibility linked to germline BAP1 mutationsUncertain significance
(Aug 31, 2017)
criteria provided, single submitterVCV000539915
23.
GRCh37:
Chr3:52436328
GRCh38:
Chr3:52402312
BAP1Hereditary cancer-predisposing syndromeLikely benign
(Nov 12, 2017)
criteria provided, single submitterVCV000630790
24.
GRCh37:
Chr3:52436330
GRCh38:
Chr3:52402314
BAP1R722CTumor susceptibility linked to germline BAP1 mutationsUncertain significance
(May 25, 2018)
criteria provided, single submitterVCV000569962
25.
GRCh37:
Chr3:52436332
GRCh38:
Chr3:52402316
BAP1S721CHereditary cancer-predisposing syndrome, Tumor susceptibility linked to germline BAP1 mutationsUncertain significance
(Jul 2, 2018)
criteria provided, multiple submitters, no conflictsVCV000490846
26.
GRCh38:
Chr3:52402319
BAP1Tumor susceptibility linked to germline BAP1 mutationsUncertain significance
(Oct 29, 2018)
criteria provided, single submitterVCV000651100
27.
GRCh37:
Chr3:52436336
GRCh38:
Chr3:52402320
BAP1R720CHereditary cancer-predisposing syndromeUncertain significance
(Oct 18, 2018)
criteria provided, single submitterVCV000629895
28.
GRCh37:
Chr3:52436342
GRCh38:
Chr3:52402326
BAP1Hereditary cancer-predisposing syndromeLikely benign
(Dec 11, 2017)
criteria provided, single submitterVCV000631009
29.
GRCh37:
Chr3:52436349
GRCh38:
Chr3:52402333
BAP1Hereditary cancer-predisposing syndrome, not specifiedLikely benign
(Feb 23, 2018)
criteria provided, multiple submitters, no conflictsVCV000385113
30.
GRCh37:
Chr3:52436356
GRCh38:
Chr3:52402340
BAP1R713QHereditary cancer-predisposing syndromeUncertain significance
(Aug 3, 2018)
criteria provided, single submitterVCV000490845
31.
GRCh37:
Chr3:52436370
GRCh38:
Chr3:52402354
BAP1Hereditary cancer-predisposing syndromeLikely benign
(Nov 30, 2017)
criteria provided, single submitterVCV000630523
32.
GRCh37:
Chr3:52436376
GRCh38:
Chr3:52402360
BAP1Hereditary cancer-predisposing syndrome, Tumor susceptibility linked to germline BAP1 mutationsLikely benign
(Aug 5, 2016)
criteria provided, multiple submitters, no conflictsVCV000490844
33.
GRCh37:
Chr3:52436391
GRCh38:
Chr3:52402375
BAP1Hereditary cancer-predisposing syndrome, not specified, Tumor susceptibility linked to germline BAP1 mutations
Likely benign
(Feb 8, 2016)
criteria provided, multiple submitters, no conflictsVCV000383809
34.
GRCh37:
Chr3:52436398
GRCh38:
Chr3:52402382
BAP1R699QTumor susceptibility linked to germline BAP1 mutationsUncertain significance
(May 21, 2018)
criteria provided, single submitterVCV000570610
35.
GRCh37:
Chr3:52436399
GRCh38:
Chr3:52402383
BAP1Hereditary cancer-predisposing syndromeLikely benign
(Oct 7, 2016)
criteria provided, single submitterVCV000490842
36.
GRCh37:
Chr3:52436403
GRCh38:
Chr3:52402387
BAP1Hereditary cancer-predisposing syndrome, Tumor susceptibility linked to germline BAP1 mutationsLikely benign
(Mar 18, 2016)
criteria provided, multiple submitters, no conflictsVCV000240056
37.
GRCh37:
Chr3:52436406
GRCh38:
Chr3:52402390
BAP1Hereditary cancer-predisposing syndromeLikely benign
(Nov 14, 2016)
criteria provided, single submitterVCV000490841
38.
GRCh37:
Chr3:52436418
GRCh38:
Chr3:52402402
BAP1Hereditary cancer-predisposing syndrome, Tumor susceptibility linked to germline BAP1 mutationsLikely benign
(Aug 20, 2017)
criteria provided, multiple submitters, no conflictsVCV000485245
39.
GRCh37:
Chr3:52436421
GRCh38:
Chr3:52402405
BAP1Hereditary cancer-predisposing syndromeLikely benign
(Jun 8, 2017)
criteria provided, single submitterVCV000490840
40.
GRCh37:
Chr3:52436423
GRCh38:
Chr3:52402407
BAP1Hereditary cancer-predisposing syndromeLikely benign
(Jan 7, 2018)
criteria provided, single submitterVCV000631141
41.
GRCh37:
Chr3:52436424
GRCh38:
Chr3:52402408
BAP1Tumor susceptibility linked to germline BAP1 mutationsLikely benign
(Oct 18, 2017)
criteria provided, single submitterVCV000539937
42.
GRCh37:
Chr3:52436426
GRCh38:
Chr3:52402410
BAP1N690DHereditary cancer-predisposing syndromeUncertain significance
(Oct 12, 2018)
criteria provided, single submitterVCV000629968
43.
GRCh37:
Chr3:52436427
GRCh38:
Chr3:52402411
BAP1Hereditary cancer-predisposing syndromeLikely benign
(Sep 11, 2016)
criteria provided, single submitterVCV000490839
44.
GRCh38:
Chr3:52402418
BAP1Tumor susceptibility linked to germline BAP1 mutationsUncertain significance
(Oct 3, 2018)
criteria provided, single submitterVCV000643767
45.
GRCh37:
Chr3:52436434
GRCh38:
Chr3:52402418
BAP1M687THereditary cancer-predisposing syndromeUncertain significance
(Oct 10, 2018)
criteria provided, single submitterVCV000629452
46.
GRCh37:
Chr3:52436439
GRCh38:
Chr3:52402423
BAP1Tumor susceptibility linked to germline BAP1 mutationsPathogenic
(Aug 28, 2011)
no assertion criteria providedVCV000030300
47.
GRCh37:
Chr3:52436441
GRCh38:
Chr3:52402425
BAP1Hereditary cancer-predisposing syndrome, not specified, Tumor susceptibility linked to germline BAP1 mutations
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflictsVCV000240055
48.
GRCh37:
Chr3:52436442
GRCh38:
Chr3:52402426
BAP1Hereditary cancer-predisposing syndromeLikely benign
(Jul 27, 2016)
criteria provided, single submitterVCV000628595
49.
GRCh37:
Chr3:52436453
GRCh38:
Chr3:52402437
BAP1Hereditary cancer-predisposing syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000490838
50.
GRCh37:
Chr3:52436454
GRCh38:
Chr3:52402438
BAP1Hereditary cancer-predisposing syndromeLikely benign
(Mar 13, 2018)
criteria provided, single submitterVCV000627877
51.
GRCh37:
Chr3:52436459
GRCh38:
Chr3:52402443
BAP1Hereditary cancer-predisposing syndromeLikely benign
(Dec 1, 2015)
no assertion criteria providedVCV000223507
52.
GRCh37:
Chr3:52436599
GRCh38:
Chr3:52402583
BAP1Hereditary cancer-predisposing syndromeLikely benign
(Dec 9, 2016)
criteria provided, single submitterVCV000490835
53.
GRCh37:
Chr3:52436605
GRCh38:
Chr3:52402589
BAP1Hereditary cancer-predisposing syndromeLikely benign
(May 17, 2017)
criteria provided, single submitterVCV000490834
54.
GRCh37:
Chr3:52436606
GRCh38:
Chr3:52402590
BAP1Hereditary cancer-predisposing syndromeLikely benign
(Feb 21, 2017)
criteria provided, single submitterVCV000490833
55.
GRCh37:
Chr3:52436611
GRCh38:
Chr3:52402595
BAP1Hereditary cancer-predisposing syndrome, Tumor susceptibility linked to germline BAP1 mutationsLikely benign
(Nov 28, 2016)
criteria provided, multiple submitters, no conflictsVCV000490837
56.
GRCh37:
Chr3:52436612
GRCh38:
Chr3:52402596
BAP1Hereditary cancer-predisposing syndromeUncertain significance
(Jul 5, 2018)
criteria provided, single submitterVCV000490836
57.
GRCh38:
Chr3:52402601
BAP1Tumor susceptibility linked to germline BAP1 mutationsUncertain significance
(Sep 12, 2018)
criteria provided, single submitterVCV000661302
58.
GRCh38:
Chr3:52402602
BAP1Tumor susceptibility linked to germline BAP1 mutationsUncertain significance
(Dec 7, 2018)
criteria provided, single submitterVCV000663464
59.
GRCh37:
Chr3:52436624
GRCh38:
Chr3:52402608
BAP1Q684*not provided, Tumor susceptibility linked to germline BAP1 mutationsPathogenic
(Aug 28, 2011)
criteria provided, multiple submitters, no conflictsVCV000030302
60.
GRCh37:
Chr3:52436642
GRCh38:
Chr3:52402626
BAP1F678ITumor susceptibility linked to germline BAP1 mutationsUncertain significance
(Aug 3, 2016)
criteria provided, single submitterVCV000412421
61.
GRCh37:
Chr3:52436643
GRCh38:
Chr3:52402627
BAP1Hereditary cancer-predisposing syndromeLikely benign
(Jun 28, 2018)
criteria provided, single submitterVCV000629896
62.
GRCh37:
Chr3:52436648
GRCh38:
Chr3:52402632
BAP1C676RTumor susceptibility linked to germline BAP1 mutationsUncertain significance
(Sep 14, 2018)
criteria provided, single submitterVCV000412426
63.
GRCh37:
Chr3:52436658
GRCh38:
Chr3:52402642
BAP1D672EHereditary cancer-predisposing syndromeUncertain significance
(Jun 28, 2018)
criteria provided, single submitterVCV000628768
64.
GRCh37:
Chr3:52436658
GRCh38:
Chr3:52402642
BAP1Tumor susceptibility linked to germline BAP1 mutationsLikely benign
(Jan 12, 2017)
criteria provided, single submitterVCV000472689
65.
GRCh37:
Chr3:52436661
GRCh38:
Chr3:52402645
BAP1Hereditary cancer-predisposing syndrome, Tumor susceptibility linked to germline BAP1 mutationsLikely benign
(Jan 17, 2017)
criteria provided, multiple submitters, no conflictsVCV000417283
66.
GRCh37:
Chr3:52436669
GRCh38:
Chr3:52402653
BAP1H669YHereditary cancer-predisposing syndromeUncertain significance
(Aug 17, 2018)
criteria provided, single submitterVCV000489630
67.
GRCh38:
Chr3:52402659-52402677
BAP1Tumor susceptibility linked to germline BAP1 mutationsLikely pathogenic
(Aug 3, 2018)
criteria provided, single submitterVCV000643705
68.
GRCh37:
Chr3:52436682
GRCh38:
Chr3:52402666
BAP1Hereditary cancer-predisposing syndromeLikely benign
(Jun 15, 2017)
criteria provided, single submitterVCV000490832
69.
GRCh37:
Chr3:52436691
GRCh38:
Chr3:52402675
BAP1Tumor susceptibility linked to germline BAP1 mutationsLikely pathogenic
(Jul 31, 2017)
criteria provided, single submitterVCV000472687
70.
GRCh37:
Chr3:52436693-52436703
GRCh38:
Chr3:52402677-52402687
BAP1not providedUncertain significance
(Aug 20, 2016)
criteria provided, single submitterVCV000422059
71.
GRCh37:
Chr3:52436699
GRCh38:
Chr3:52402683
BAP1Hereditary cancer-predisposing syndrome, Tumor susceptibility linked to germline BAP1 mutationsLikely benign
(Apr 4, 2017)
criteria provided, multiple submitters, no conflictsVCV000472688
72.
GRCh37:
Chr3:52436704
GRCh38:
Chr3:52402688
BAP1Hereditary cancer-predisposing syndromeLikely benign
(Nov 13, 2017)
criteria provided, single submitterVCV000630784
73.
GRCh37:
Chr3:52436706
GRCh38:
Chr3:52402690
BAP1Hereditary cancer-predisposing syndromeLikely benign
(Oct 6, 2016)
criteria provided, single submitterVCV000490831
74.
GRCh37:
Chr3:52436711-52436712
GRCh38:
Chr3:52402695-52402696
BAP1Hereditary cancer-predisposing syndromeLikely benign
(Feb 8, 2018)
criteria provided, single submitterVCV000630588
75.
GRCh37:
Chr3:52436777
GRCh38:
Chr3:52402761
BAP1Hereditary cancer-predisposing syndromeLikely benign
(Sep 5, 2017)
criteria provided, single submitterVCV000490829
76.
GRCh37:
Chr3:52436780
GRCh38:
Chr3:52402764
BAP1Hereditary cancer-predisposing syndromeLikely benign
(Jun 4, 2018)
criteria provided, single submitterVCV000629897
77.
GRCh37:
Chr3:52436787
GRCh38:
Chr3:52402771
BAP1Tumor susceptibility linked to germline BAP1 mutationsLikely benign
(Aug 10, 2017)
criteria provided, single submitterVCV000539931
78.
GRCh37:
Chr3:52436789
GRCh38:
Chr3:52402773
BAP1Hereditary cancer-predisposing syndrome, Tumor susceptibility linked to germline BAP1 mutationsConflicting interpretations of pathogenicity
(Aug 23, 2017)
criteria provided, conflicting interpretationsVCV000490830
79.
GRCh37:
Chr3:52436795
GRCh38:
Chr3:52402779
BAP1Hereditary cancer-predisposing syndromeUncertain significance
(Aug 19, 2018)
criteria provided, single submitterVCV000489629
80.
GRCh37:
Chr3:52436803
GRCh38:
Chr3:52402787
BAP1K659*Tumor susceptibility linked to germline BAP1 mutationsPathogenic
(Jan 11, 2018)
criteria provided, single submitterVCV000539901
81.
GRCh37:
Chr3:52436808
GRCh38:
Chr3:52402792
BAP1R657KHereditary cancer-predisposing syndromeUncertain significance
(Sep 5, 2018)
criteria provided, single submitterVCV000490828
82.
GRCh37:
Chr3:52436810
GRCh38:
Chr3:52402794
BAP1Hereditary cancer-predisposing syndromeLikely benign
(Jul 19, 2017)
criteria provided, single submitterVCV000490827
83.
GRCh37:
Chr3:52436816
GRCh38:
Chr3:52402800
BAP1Hereditary cancer-predisposing syndrome, not specified, Tumor susceptibility linked to germline BAP1 mutations
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflictsVCV000240054
84.
GRCh37:
Chr3:52436819
GRCh38:
Chr3:52402803
BAP1Hereditary cancer-predisposing syndromeLikely benign
(Feb 10, 2017)
criteria provided, single submitterVCV000490826
85.
GRCh37:
Chr3:52436822
GRCh38:
Chr3:52402806
BAP1Hereditary cancer-predisposing syndromeLikely benign
(May 24, 2016)
criteria provided, multiple submitters, no conflictsVCV000485246
86.
GRCh37:
Chr3:52436825-52436827
GRCh38:
Chr3:52402809-52402811
BAP1K651delHereditary cancer-predisposing syndrome, Tumor susceptibility linked to germline BAP1 mutationsUncertain significance
(Mar 23, 2018)
criteria provided, multiple submitters, no conflictsVCV000485250
87.
GRCh38:
Chr3:52402810
BAP1Tumor susceptibility linked to germline BAP1 mutationsUncertain significance
(Dec 2, 2018)
criteria provided, single submitterVCV000652402
88.
GRCh37:
Chr3:52436831
GRCh38:
Chr3:52402815
BAP1Hereditary cancer-predisposing syndrome, not specified, Tumor susceptibility linked to germline BAP1 mutations
Likely benign
(Feb 14, 2018)
criteria provided, multiple submitters, no conflictsVCV000508493
89.
GRCh37:
Chr3:52436832
GRCh38:
Chr3:52402816
BAP1C649YTumor susceptibility linked to germline BAP1 mutations, Hereditary cancer-predisposing syndromeConflicting interpretations of pathogenicity
(Oct 25, 2018)
criteria provided, conflicting interpretationsVCV000240053
90.
GRCh37:
Chr3:52436834
GRCh38:
Chr3:52402818
BAP1Hereditary cancer-predisposing syndrome, not specified, Tumor susceptibility linked to germline BAP1 mutations
Likely benign
(May 17, 2017)
criteria provided, multiple submitters, no conflictsVCV000472686
91.
GRCh37:
Chr3:52436835
GRCh38:
Chr3:52402819
BAP1A648VHereditary cancer-predisposing syndrome, Tumor susceptibility linked to germline BAP1 mutationsUncertain significance
(Dec 17, 2018)
criteria provided, multiple submitters, no conflictsVCV000485265
92.
GRCh38:
Chr3:52402824
BAP1Tumor susceptibility linked to germline BAP1 mutationsPathogenic
(Nov 14, 2018)
criteria provided, single submitterVCV000656678
93.
GRCh37:
Chr3:52436847
GRCh38:
Chr3:52402831
BAP1A644VTumor susceptibility linked to germline BAP1 mutations, Hereditary cancer-predisposing syndromeConflicting interpretations of pathogenicity
(Oct 4, 2018)
criteria provided, conflicting interpretationsVCV000472685
94.
GRCh37:
Chr3:52436850
GRCh38:
Chr3:52402834
BAP1I643TTumor susceptibility linked to germline BAP1 mutations, Hereditary cancer-predisposing syndromeUncertain significance
(Feb 15, 2018)
criteria provided, multiple submitters, no conflictsVCV000490825
95.
GRCh37:
Chr3:52436852
GRCh38:
Chr3:52402836
BAP1E642DHereditary cancer-predisposing syndromeUncertain significance
(Jan 17, 2017)
criteria provided, single submitterVCV000485298
96.
GRCh37:
Chr3:52436855
GRCh38:
Chr3:52402839
BAP1Hereditary cancer-predisposing syndromeLikely benign
(Oct 26, 2018)
criteria provided, single submitterVCV000628603
97.
GRCh37:
Chr3:52436856
GRCh38:
Chr3:52402840
BAP1A641DTumor susceptibility linked to germline BAP1 mutationsUncertain significance
(Jun 24, 2018)
criteria provided, single submitterVCV000566715
98.
GRCh37:
Chr3:52436864
GRCh38:
Chr3:52402848
BAP1Hereditary cancer-predisposing syndromeLikely benign
(Mar 30, 2018)
criteria provided, single submitterVCV000628098
99.
GRCh38:
Chr3:52402850
BAP1Tumor susceptibility linked to germline BAP1 mutationsUncertain significance
(Nov 26, 2018)
criteria provided, single submitterVCV000642497
100.
GRCh37:
Chr3:52436875
GRCh38:
Chr3:52402859
BAP1L635VHereditary cancer-predisposing syndromeUncertain significance
(Sep 25, 2018)
criteria provided, single submitterVCV000628081
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