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Results: 1 to 100 of 1290

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
BRCA2BRCA1 and BRCA2 Hereditary Breast and Ovarian CancerPathogenic
(Sep 18, 2014)
no assertion criteria provided
2.
BRCA2Familial cancer of breastPathogenic
(Mar 24, 2014)
no assertion criteria provided
3.
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Nov 13, 1997)
no assertion criteria provided
4.
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Mar 2, 2011)
no assertion criteria provided
5.
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Feb 20, 2004)
no assertion criteria provided
6.
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Oct 29, 2003)
no assertion criteria provided
7.
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Feb 20, 2004)
no assertion criteria provided
8.
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(May 21, 2013)
no assertion criteria provided
9.
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Feb 20, 2004)
no assertion criteria provided
10.
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Jun 21, 1999)
no assertion criteria provided
11.
BRCA2Breast-ovarian cancer, familial 2Pathogenicno assertion criteria provided
12.
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Mar 2, 2011)
no assertion criteria provided
13.
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Dec 30, 1999)
no assertion criteria provided
14.
BRCA2Breast-ovarian cancer, familial 2Pathogenicno assertion criteria provided
15.
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Jan 26, 2005)
no assertion criteria provided
16.
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Jul 16, 2010)
no assertion criteria provided
17.
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Sep 18, 2010)
no assertion criteria provided
18.
GRCh37:
Chr13:32890634-32890635
GRCh38:
Chr13:32316497-32316498
BRCA2Breast-ovarian cancer, familial 2Pathogenicno assertion criteria provided
19.
GRCh37:
Chr13:32893212
GRCh38:
Chr13:32319075
BRCA2Hereditary cancer-predisposing syndromeLikely pathogenic
(Dec 17, 2014)
criteria provided, single submitter
20.
GRCh37:
Chr13:32893217-32893242
GRCh38:
Chr13:32319080-32319105
BRCA2Breast-ovarian cancer, familial 2Pathogenic/Likely pathogenic
(Nov 26, 2014)
criteria provided, single submitter
21.
GRCh37:
Chr13:32893252
GRCh38:
Chr13:32319115
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Feb 20, 2004)
no assertion criteria provided
22.
GRCh37:
Chr13:32893278-32893279
GRCh38:
Chr13:32319141-32319142
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Feb 20, 2004)
no assertion criteria provided
23.
GRCh37:
Chr13:32893463
GRCh38:
Chr13:32319326
BRCA2Hereditary cancer-predisposing syndromeLikely pathogenic
(Aug 26, 2014)
criteria provided, single submitter
24.
GRCh37:
Chr13:32893464
GRCh38:
Chr13:32319327
BRCA2Familial cancer of breast, Breast-ovarian cancer, familial 2, Hereditary cancer-predisposing syndrome
Pathogenic/Likely pathogenic, not provided
(Nov 14, 2013)
criteria provided, single submitter
25.
GRCh37:
Chr13:32899321
GRCh38:
Chr13:32325184
BRCA2Breast-ovarian cancer, familial 2Likely pathogenic
(Feb 6, 2015)
criteria provided, single submitter
26.
GRCh37:
Chr13:32899322
GRCh38:
Chr13:32325185
BRCA2Hereditary cancer-predisposing syndromeLikely pathogenic
(Jun 6, 2014)
criteria provided, single submitter
27.
GRCh37:
Chr13:32900241
GRCh38:
Chr13:32326104
BRCA2Hereditary cancer-predisposing syndromePathogenic
(Feb 12, 2014)
criteria provided, single submitter
28.
GRCh37:
Chr13:32900291
GRCh38:
Chr13:32326154
BRCA2Familial cancer of breast, Breast-ovarian cancer, familial 2Conflicting interpretations of pathogenicity, not provided
(Oct 18, 2011)
no assertion criteria provided
29.
GRCh37:
Chr13:32900375-32900378
GRCh38:
Chr13:32326238-32326241
BRCA2Hereditary cancer-predisposing syndromeLikely pathogenic
(Mar 26, 2014)
criteria provided, single submitter
30.
GRCh37:
Chr13:32900387
GRCh38:
Chr13:32326250
BRCA2BRCA1 and BRCA2 Hereditary Breast and Ovarian CancerPathogenic
(Jun 11, 2014)
no assertion criteria provided
31.
GRCh37:
Chr13:32900392-32900393
GRCh38:
Chr13:32326255-32326256
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Dec 23, 2003)
no assertion criteria provided
32.
GRCh37:
Chr13:32900415
GRCh38:
Chr13:32326278
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Apr 5, 2012)
no assertion criteria provided
33.
GRCh37:
Chr13:32900691-32900692
GRCh38:
Chr13:32326554-32326555
BRCA2Hereditary cancer-predisposing syndromePathogenic
(Jul 19, 2013)
criteria provided, single submitter
34.
GRCh37:
Chr13:32900712-32900715
GRCh38:
Chr13:32326575-32326578
BRCA2Hereditary cancer-predisposing syndromePathogenic
(Jun 6, 2014)
criteria provided, single submitter
35.
GRCh37:
Chr13:32903618-32903621
GRCh38:
Chr13:32329481-32329484
BRCA2Familial cancer of breastPathogenic
(Jun 24, 2014)
no assertion criteria provided
36.
GRCh37:
Chr13:32903630
GRCh38:
Chr13:32329493
BRCA2Breast-ovarian cancer, familial 2Likely pathogenic
(May 22, 2013)
no assertion criteria provided
37.
GRCh37:
Chr13:32905086
GRCh38:
Chr13:32330949
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Feb 11, 2015)
no assertion criteria provided
38.
GRCh37:
Chr13:32905089
GRCh38:
Chr13:32330952
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(May 1, 2012)
no assertion criteria provided
39.
GRCh37:
Chr13:32905141-32905145
GRCh38:
Chr13:32331004-32331008
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Nov 13, 1997)
no assertion criteria provided
40.
GRCh37:
Chr13:32905148-32905149
GRCh38:
Chr13:32331011-32331012
BRCA2Breast-ovarian cancer, familial 2Likely pathogenicno assertion criteria provided
41.
GRCh37:
Chr13:32905149-32905150
GRCh38:
Chr13:32331012-32331013
BRCA2Breast-ovarian cancer, familial 2Pathogenicno assertion criteria provided
42.
GRCh37:
Chr13:32905161
GRCh38:
Chr13:32331024
BRCA2Familial cancer of breastPathogenic
(Jan 12, 2013)
no assertion criteria provided
43.
GRCh37:
Chr13:32906414
GRCh38:
Chr13:32332277
BRCA2Hereditary cancer-predisposing syndromePathogenic
(Sep 3, 2014)
criteria provided, single submitter
44.
GRCh37:
Chr13:32906610-32906611
GRCh38:
Chr13:32332473-32332474
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Apr 3, 2007)
no assertion criteria provided
45.
GRCh37:
Chr13:32906778-32906781
GRCh38:
Chr13:32332641-32332644
BRCA2Hereditary cancer-predisposing syndromePathogenic
(Aug 19, 2014)
criteria provided, single submitter
46.
GRCh37:
Chr13:32906846
GRCh38:
Chr13:32332709
BRCA2Breast-ovarian cancer, familial 2Pathogenicno assertion criteria provided
47.
GRCh37:
Chr13:32906923-32906924
GRCh38:
Chr13:32332786-32332787
BRCA2Hereditary cancer-predisposing syndromePathogenic
(May 13, 2014)
criteria provided, single submitter
48.
GRCh37:
Chr13:32906977
GRCh38:
Chr13:32332840
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(May 29, 2002)
no assertion criteria provided
49.
GRCh37:
Chr13:32907023
GRCh38:
Chr13:32332886
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Oct 29, 2001)
no assertion criteria provided
50.
GRCh37:
Chr13:32907043-32907046
GRCh38:
Chr13:32332906-32332909
BRCA2Hereditary cancer-predisposing syndromePathogenic
(Dec 29, 2013)
criteria provided, single submitter
51.
GRCh37:
Chr13:32907062
GRCh38:
Chr13:32332925
BRCA2Hereditary cancer-predisposing syndromePathogenic
(Feb 27, 2014)
criteria provided, single submitter
52.
GRCh37:
Chr13:32907157
GRCh38:
Chr13:32333020
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Jun 22, 1999)
no assertion criteria provided
53.
GRCh37:
Chr13:32907167
GRCh38:
Chr13:32333030
BRCA2Hereditary cancer-predisposing syndromePathogenic
(Jun 13, 2014)
criteria provided, single submitter
54.
GRCh37:
Chr13:32907223
GRCh38:
Chr13:32333086
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Mar 2, 2011)
no assertion criteria provided
55.
GRCh37:
Chr13:32907263
GRCh38:
Chr13:32333126
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Dec 23, 2003)
no assertion criteria provided
56.
GRCh37:
Chr13:32907283-32907286
GRCh38:
Chr13:32333146-32333149
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Dec 23, 2003)
no assertion criteria provided
57.
GRCh37:
Chr13:32907387-32907390
GRCh38:
Chr13:32333250-32333253
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(May 29, 2002)
no assertion criteria provided
58.
GRCh37:
Chr13:32907421
GRCh38:
Chr13:32333284
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(May 29, 2002)
no assertion criteria provided
59.
GRCh37:
Chr13:32907422
GRCh38:
Chr13:32333285
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(May 29, 2002)
no assertion criteria provided
60.
GRCh37:
Chr13:32907469-32907470
GRCh38:
Chr13:32333332-32333333
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Apr 2, 1998)
no assertion criteria provided
61.
GRCh37:
Chr13:32907470
GRCh38:
Chr13:32333333
BRCA2Hereditary cancer-predisposing syndromePathogenic
(Aug 28, 2014)
criteria provided, single submitter
62.
GRCh37:
Chr13:32907522
GRCh38:
Chr13:32333385
BRCA2Breast-ovarian cancer, familial 2Likely pathogenic
(Jan 17, 2013)
no assertion criteria provided
63.
GRCh37:
Chr13:32907525
GRCh38:
Chr13:32333388
BRCA2Familial cancer of breast, Hereditary cancer-predisposing syndromePathogenic/Likely pathogenic
(Jan 3, 2015)
criteria provided, single submitter
64.
GRCh37:
Chr13:32910452
GRCh38:
Chr13:32336315
BRCA2Hereditary cancer-predisposing syndromePathogenic
(Dec 19, 2014)
criteria provided, single submitter
65.
GRCh37:
Chr13:32910551-32910555
GRCh38:
Chr13:32336414-32336418
BRCA2Hereditary cancer-predisposing syndromePathogenic
(Apr 30, 2014)
criteria provided, single submitter
66.
GRCh37:
Chr13:32910583
GRCh38:
Chr13:32336446
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Aug 7, 2009)
no assertion criteria provided
67.
GRCh37:
Chr13:32910804
GRCh38:
Chr13:32336667
BRCA2Hereditary cancer-predisposing syndromePathogenic
(Nov 18, 2013)
criteria provided, single submitter
68.
GRCh37:
Chr13:32910831
GRCh38:
Chr13:32336694
BRCA2Hereditary cancer-predisposing syndromePathogenic
(Oct 9, 2014)
criteria provided, single submitter
69.
GRCh37:
Chr13:32910872
GRCh38:
Chr13:32336735
BRCA2Familial cancer of breastPathogenic
(Sep 16, 2014)
no assertion criteria provided
70.
GRCh37:
Chr13:32910931
GRCh38:
Chr13:32336794
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Oct 28, 2010)
no assertion criteria provided
71.
GRCh37:
Chr13:32910986
GRCh38:
Chr13:32336849
BRCA2Hereditary cancer-predisposing syndromePathogenic
(Sep 15, 2014)
criteria provided, single submitter
72.
GRCh37:
Chr13:32911018
GRCh38:
Chr13:32336881
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Jun 22, 1999)
no assertion criteria provided
73.
GRCh37:
Chr13:32911062
GRCh38:
Chr13:32336925
BRCA2Hereditary cancer-predisposing syndromePathogenic
(Aug 26, 2013)
criteria provided, single submitter
74.
GRCh37:
Chr13:32911075
GRCh38:
Chr13:32336938
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(May 29, 2002)
no assertion criteria provided
75.
GRCh37:
Chr13:32911076-32911082
GRCh38:
Chr13:32336939-32336945
BRCA2Breast-ovarian cancer, familial 2Pathogenicno assertion criteria provided
76.
GRCh37:
Chr13:32911104
GRCh38:
Chr13:32336967
BRCA2Hereditary cancer-predisposing syndromePathogenic
(Jan 7, 2015)
criteria provided, single submitter
77.
GRCh37:
Chr13:32911235-32911239
GRCh38:
Chr13:32337098-32337102
BRCA2Breast-ovarian cancer, familial 2Likely pathogenic
(Feb 11, 2015)
criteria provided, single submitter
78.
GRCh37:
Chr13:32911325-32911326
GRCh38:
Chr13:32337188-32337189
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Feb 20, 2004)
no assertion criteria provided
79.
GRCh37:
Chr13:32911332
GRCh38:
Chr13:32337195
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Feb 28, 2012)
no assertion criteria provided
80.
GRCh37:
Chr13:32911334
GRCh38:
Chr13:32337197
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Dec 23, 2003)
no assertion criteria provided
81.
GRCh37:
Chr13:32911410
GRCh38:
Chr13:32337273
BRCA2Hereditary cancer-predisposing syndromePathogenic
(Sep 9, 2013)
criteria provided, single submitter
82.
GRCh37:
Chr13:32911422-32911432
GRCh38:
Chr13:32337285-32337295
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Jun 22, 1999)
no assertion criteria provided
83.
GRCh37:
Chr13:32911470
GRCh38:
Chr13:32337333
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Nov 30, 1998)
no assertion criteria provided
84.
GRCh37:
Chr13:32911502
GRCh38:
Chr13:32337365
BRCA2Familial cancer of breastPathogenic
(Jun 11, 2014)
no assertion criteria provided
85.
GRCh37:
Chr13:32911559-32911563
GRCh38:
Chr13:32337422-32337426
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(May 29, 2002)
no assertion criteria provided
86.
GRCh37:
Chr13:32911668-32911669
GRCh38:
Chr13:32337531-32337532
BRCA2Hereditary cancer-predisposing syndromePathogenic
(Oct 9, 2013)
criteria provided, single submitter
87.
GRCh37:
Chr13:32911684-32911687
GRCh38:
Chr13:32337547-32337550
BRCA2Breast-ovarian cancer, familial 2Pathogenicno assertion criteria provided
88.
GRCh37:
Chr13:32911772
GRCh38:
Chr13:32337635
BRCA2Familial cancer of breastPathogenic
(Jan 12, 2013)
no assertion criteria provided
89.
GRCh37:
Chr13:32911783
GRCh38:
Chr13:32337646
BRCA2Familial cancer of breastPathogenic
(Jan 12, 2013)
no assertion criteria provided
90.
GRCh37:
Chr13:32911784
GRCh38:
Chr13:32337647
BRCA2Familial cancer of breastPathogenic
(Jan 12, 2013)
no assertion criteria provided
91.
GRCh37:
Chr13:32911788
GRCh38:
Chr13:32337651
BRCA2Hereditary cancer-predisposing syndromePathogenic
(Aug 14, 2013)
criteria provided, single submitter
92.
GRCh37:
Chr13:32911839-32911840
GRCh38:
Chr13:32337702-32337703
BRCA2BRCA1 and BRCA2 Hereditary Breast and Ovarian CancerPathogenic
(Feb 18, 2015)
no assertion criteria provided
93.
GRCh37:
Chr13:32911843
GRCh38:
Chr13:32337706
BRCA2Hereditary cancer-predisposing syndromePathogenic
(Nov 26, 2013)
criteria provided, single submitter
94.
GRCh37:
Chr13:32911845-32911847
GRCh38:
Chr13:32337708-32337710
BRCA2Hereditary cancer-predisposing syndromePathogenic
(Oct 28, 2014)
criteria provided, single submitter
95.
GRCh37:
Chr13:32911850
GRCh38:
Chr13:32337713
BRCA2Hereditary cancer-predisposing syndromePathogenic
(Feb 27, 2014)
criteria provided, single submitter
96.
GRCh37:
Chr13:32911857
GRCh38:
Chr13:32337720
BRCA2Hereditary cancer-predisposing syndromePathogenic
(Jun 18, 2014)
criteria provided, single submitter
97.
GRCh37:
Chr13:32911878
GRCh38:
Chr13:32337741
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Jul 19, 2013)
no assertion criteria provided
98.
GRCh37:
Chr13:32911899-32911900
GRCh38:
Chr13:32337762-32337763
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Feb 5, 2010)
no assertion criteria provided
99.
GRCh37:
Chr13:32911903
GRCh38:
Chr13:32337766
BRCA2Hereditary cancer-predisposing syndromePathogenic
(Jan 20, 2014)
criteria provided, single submitter
100.
GRCh37:
Chr13:32911904
GRCh38:
Chr13:32337767
BRCA2Hereditary cancer-predisposing syndromePathogenic
(Feb 24, 2014)
criteria provided, single submitter

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