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Items: 1 to 100 of 106

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
MEN1Multiple endocrine neoplasia, type 1Pathogenic
(Mar 9, 2012)
no assertion criteria provided
2.
MEN1Multiple endocrine neoplasia, type 1Pathogenic
(Jul 1, 2005)
no assertion criteria provided
3.
MEN1Multiple endocrine neoplasia, type 1Pathogenic
(Jul 1, 2004)
no assertion criteria provided
4.
MEN1Multiple endocrine neoplasia, type 1Pathogenic
(Jul 1, 2004)
no assertion criteria provided
5.
MEN1Multiple endocrine neoplasia, type 1Pathogenic
(Sep 1, 2002)
no assertion criteria provided
6.
MEN1Multiple endocrine neoplasia, type 1Pathogenic
(Jun 1, 2002)
no assertion criteria provided
7.
MEN1Multiple endocrine neoplasia, type 1Pathogenic
(Jun 1, 2002)
no assertion criteria provided
8.
MEN1Multiple endocrine neoplasia, type 1Pathogenic
(Jun 1, 2002)
no assertion criteria provided
9.
MEN1Multiple endocrine neoplasia, type 1Pathogenic
(Jun 1, 2002)
no assertion criteria provided
10.
MEN1Carcinoid tumor of lungPathogenic
(Dec 1, 1997)
no assertion criteria provided
11.
GRCh37:
Chr11:64571900
GRCh38:
Chr11:64804428
MEN1Multiple endocrine neoplasia, type 1Likely pathogenic
(Oct 20, 2015)
criteria provided, single submitter
12.
GRCh37:
Chr11:64571909
GRCh38:
Chr11:64804437
MEN1not providedLikely pathogenic
(May 5, 2015)
criteria provided, single submitter
13.
GRCh37:
Chr11:64571915
GRCh38:
Chr11:64804443
MEN1not providedPathogenic
(Aug 27, 2013)
criteria provided, single submitter
14.
GRCh37:
Chr11:64571952
GRCh38:
Chr11:64804480
MEN1not providedPathogenic
(May 13, 2014)
criteria provided, single submitter
15.
GRCh37:
Chr11:64571954
GRCh38:
Chr11:64804482
MEN1not providedPathogenic
(Jan 21, 2013)
no assertion criteria provided
16.
GRCh37:
Chr11:64571967-64571969
GRCh38:
Chr11:64804495-64804497
MEN1not providedLikely pathogenic
(Dec 17, 2015)
criteria provided, single submitter
17.
GRCh37:
Chr11:64571975
GRCh38:
Chr11:64804503
MEN1Multiple endocrine neoplasia, type 1Pathogenic
(Jan 22, 2015)
criteria provided, single submitter
18.
GRCh37:
Chr11:64571979
GRCh38:
Chr11:64804507
MEN1not providedPathogenic
(Jun 29, 2015)
criteria provided, single submitter
19.
GRCh37:
Chr11:64571988
GRCh38:
Chr11:64804516
MEN1not providedPathogenic
(May 30, 2014)
criteria provided, single submitter
20.
GRCh37:
Chr11:64572021-64572037
GRCh38:
Chr11:64804549-64804565
MEN1not providedPathogenic
(Jan 31, 2014)
criteria provided, single submitter
21.
GRCh37:
Chr11:64572021
GRCh38:
Chr11:64804549
MEN1Multiple endocrine neoplasia, type 1, not providedConflicting interpretations of pathogenicity
(Feb 11, 2016)
criteria provided, conflicting interpretations
22.
GRCh37:
Chr11:64572060
GRCh38:
Chr11:64804588
MEN1Multiple endocrine neoplasia, type 1, not providedPathogenic
(Mar 31, 2015)
criteria provided, single submitter
23.
GRCh37:
Chr11:64572090
GRCh38:
Chr11:64804618
MEN1not providedPathogenic
(Nov 13, 2013)
criteria provided, single submitter
24.
GRCh37:
Chr11:64572091
GRCh38:
Chr11:64804619
MEN1not providedPathogenic
(Feb 24, 2014)
criteria provided, single submitter
25.
GRCh37:
Chr11:64572093
GRCh38:
Chr11:64804621
MEN1Multiple endocrine neoplasia, type 1, not providedPathogenic
(Feb 6, 2016)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr11:64572105-64572106
GRCh38:
Chr11:64804633-64804634
MEN1not providedPathogenic
(Oct 8, 2013)
criteria provided, single submitter
27.
GRCh37:
Chr11:64572210
GRCh38:
Chr11:64804738
MEN1Multiple endocrine neoplasia, type 1Pathogenic
(Oct 2, 2015)
criteria provided, single submitter
28.
GRCh37:
Chr11:64572261
GRCh38:
Chr11:64804789
MEN1Multiple endocrine neoplasia, type 1, not provided, Hereditary cancer-predisposing syndrome
Pathogenic
(Apr 11, 2014)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr11:64572289
GRCh38:
Chr11:64804817
MEN1Multiple endocrine neoplasia, type 1Likely pathogenic
(Jan 22, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr11:64572289
GRCh38:
Chr11:64804817
MEN1not providedPathogenic
(Jul 25, 2014)
criteria provided, single submitter
31.
GRCh37:
Chr11:64572495-64572505
GRCh38:
Chr11:64805023-64805033
MEN1not providedPathogenic
(May 21, 2014)
criteria provided, single submitter
32.
GRCh37:
Chr11:64572505
GRCh38:
Chr11:64805033
MEN1Hyperparathyroidism 1Pathogenic
(Aug 1, 2004)
no assertion criteria provided
33.
GRCh37:
Chr11:64572515
GRCh38:
Chr11:64805043
MEN1not providedPathogenic
(Jul 24, 2014)
criteria provided, single submitter
34.
GRCh37:
Chr11:64572532
GRCh38:
Chr11:64805060
MEN1not providedPathogenic
(Mar 25, 2015)
criteria provided, single submitter
35.
GRCh37:
Chr11:64572548
GRCh38:
Chr11:64805076
MEN1not providedPathogenic
(Mar 6, 2014)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr11:64572549
GRCh38:
Chr11:64805077
MEN1Multiple endocrine neoplasia, type 1Pathogenic
(Apr 18, 1997)
no assertion criteria provided
37.
GRCh37:
Chr11:64572550
GRCh38:
Chr11:64805078
MEN1Multiple endocrine neoplasia, type 1Pathogenic
(Apr 18, 1997)
no assertion criteria provided
38.
GRCh37:
Chr11:64572594
GRCh38:
Chr11:64805122
MEN1Multiple endocrine neoplasia, type 1, not providedPathogenic/Likely pathogenic
(Jun 11, 2014)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr11:64572604
GRCh38:
Chr11:64805132
MEN1not providedPathogenic
(Sep 8, 2015)
criteria provided, single submitter
40.
GRCh37:
Chr11:64572604
GRCh38:
Chr11:64805132
MEN1Multiple endocrine neoplasia, type 1Pathogenic
(Mar 10, 2016)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr11:64572643
GRCh38:
Chr11:64805171
MEN1Multiple endocrine neoplasia, type 1Pathogenic
(Oct 19, 2015)
criteria provided, single submitter
42.
GRCh37:
Chr11:64572671
GRCh38:
Chr11:64805199
MEN1not providedPathogenic
(Jun 19, 2014)
criteria provided, single submitter
43.
GRCh37:
Chr11:64573118
GRCh38:
Chr11:64805646
MEN1Multiple endocrine neoplasia, type 1Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
44.
GRCh37:
Chr11:64573175
GRCh38:
Chr11:64805703
MEN1not providedPathogenic
(Jul 30, 2014)
criteria provided, single submitter
45.
GRCh37:
Chr11:64573182
GRCh38:
Chr11:64805710
MEN1not providedPathogenic
(Oct 30, 2014)
criteria provided, single submitter
46.
GRCh37:
Chr11:64573203-64573205
GRCh38:
Chr11:64805731-64805733
MEN1Multiple endocrine neoplasia, type 1Pathogenic
(Apr 18, 1997)
no assertion criteria provided
47.
GRCh37:
Chr11:64573229
GRCh38:
Chr11:64805757
MEN1Multiple endocrine neoplasia, type 1Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
48.
GRCh37:
Chr11:64573230
GRCh38:
Chr11:64805758
MEN1Multiple endocrine neoplasia, type 1Pathogenic
(Jan 1, 2004)
no assertion criteria provided
49.
GRCh37:
Chr11:64573740
GRCh38:
Chr11:64806268
MEN1Multiple endocrine neoplasia, type 1Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
50.
GRCh37:
Chr11:64573796-64573803
GRCh38:
Chr11:64806324-64806331
MEN1not providedPathogenic
(Dec 18, 2013)
criteria provided, single submitter
51.
GRCh37:
Chr11:64573798
GRCh38:
Chr11:64806326
MEN1Multiple endocrine neoplasia, type 1Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
52.
GRCh37:
Chr11:64573817
GRCh38:
Chr11:64806345
MEN1Multiple endocrine neoplasia, type 1, not providedPathogenic
(Nov 6, 2013)
criteria provided, single submitter
53.
GRCh37:
Chr11:64574482
GRCh38:
Chr11:64807010
MEN1not providedPathogenic
(Jun 4, 2014)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr11:64574561
GRCh38:
Chr11:64807089
MEN1not providedLikely pathogenic
(Jul 16, 2014)
criteria provided, single submitter
55.
GRCh37:
Chr11:64574700
GRCh38:
Chr11:64807228
MEN1Multiple endocrine neoplasia, type 1, not providedPathogenic
(Aug 21, 2015)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr11:64575023
GRCh38:
Chr11:64807551
MEN1not providedPathogenic
(Nov 26, 2013)
criteria provided, single submitter
57.
GRCh37:
Chr11:64575029
GRCh38:
Chr11:64807557
MEN1Multiple endocrine neoplasia, type 1, not providedPathogenic
(May 1, 2014)
criteria provided, single submitter
58.
GRCh37:
Chr11:64575044
GRCh38:
Chr11:64807572
MEN1Hyperparathyroidism 1Pathogenic
(Nov 1, 1998)
no assertion criteria provided
59.
GRCh37:
Chr11:64575049
GRCh38:
Chr11:64807577
MEN1not providedPathogenic
(May 15, 2014)
criteria provided, single submitter
60.
GRCh37:
Chr11:64575049
GRCh38:
Chr11:64807577
MEN1Multiple endocrine neoplasia, type 1Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
61.
GRCh37:
Chr11:64575085
GRCh38:
Chr11:64807613
MEN1not providedPathogenic
(Jun 13, 2014)
criteria provided, single submitter
62.
GRCh37:
Chr11:64575136
GRCh38:
Chr11:64807664
MEN1not providedLikely pathogenic
(Jan 13, 2014)
criteria provided, single submitter
63.
GRCh37:
Chr11:64575141
GRCh38:
Chr11:64807669
MEN1not providedPathogenic
(May 1, 2014)
criteria provided, single submitter
64.
GRCh37:
Chr11:64575361-64575368
GRCh38:
Chr11:64807889-64807896
MEN1Multiple endocrine neoplasia, type 1Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
65.
GRCh37:
Chr11:64575362
GRCh38:
Chr11:64807890
MEN1not providedPathogenic
(Oct 10, 2013)
criteria provided, single submitter
66.
GRCh37:
Chr11:64575365
GRCh38:
Chr11:64807893
MEN1not providedPathogenic
(Nov 27, 2013)
criteria provided, single submitter
67.
GRCh37:
Chr11:64575365-64575373
GRCh38:
Chr11:64807893-64807901
MEN1Multiple endocrine neoplasia, type 1Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
68.
GRCh37:
Chr11:64575374
GRCh38:
Chr11:64807902
MEN1Multiple endocrine neoplasia, type 1, not providedConflicting interpretations of pathogenicity
(Feb 26, 2016)
criteria provided, conflicting interpretations
69.
GRCh37:
Chr11:64575384
GRCh38:
Chr11:64807912
MEN1Multiple endocrine neoplasia, type 1Pathogenic
(Jan 16, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr11:64575386-64575389
GRCh38:
Chr11:64807914-64807917
MEN1Multiple endocrine neoplasia, type 1, not providedPathogenic
(Sep 12, 2014)
criteria provided, single submitter
71.
GRCh37:
Chr11:64575423
GRCh38:
Chr11:64807951
MEN1not providedPathogenic
(Oct 31, 2014)
criteria provided, single submitter
72.
GRCh37:
Chr11:64575424
GRCh38:
Chr11:64807952
MEN1Multiple endocrine neoplasia, type 1Pathogenic
(Apr 18, 1997)
no assertion criteria provided
73.
GRCh37:
Chr11:64575466
GRCh38:
Chr11:64807994
MEN1Hyperparathyroidism 1Pathogenic
(Nov 16, 1998)
no assertion criteria provided
74.
GRCh37:
Chr11:64575469
GRCh38:
Chr11:64807997
MEN1not providedPathogenic
(Jul 26, 2014)
criteria provided, single submitter
75.
GRCh37:
Chr11:64575470
GRCh38:
Chr11:64807998
MEN1not providedPathogenic
(Mar 18, 2014)
criteria provided, single submitter
76.
GRCh37:
Chr11:64575491
GRCh38:
Chr11:64808019
MEN1not providedPathogenic
(Oct 16, 2013)
criteria provided, single submitter
77.
GRCh37:
Chr11:64575496
GRCh38:
Chr11:64808024
MEN1not providedLikely pathogenic
(Sep 22, 2014)
criteria provided, single submitter
78.
GRCh37:
Chr11:64575502
GRCh38:
Chr11:64808030
MEN1not providedPathogenic
(Sep 25, 2013)
criteria provided, single submitter
79.
GRCh37:
Chr11:64575514
GRCh38:
Chr11:64808042
MEN1Multiple endocrine neoplasia, type 1Pathogenic
(Aug 18, 2011)
criteria provided, single submitter
80.
GRCh37:
Chr11:64575544
GRCh38:
Chr11:64808072
MEN1not providedLikely pathogenic
(May 29, 2014)
criteria provided, single submitter
81.
GRCh37:
Chr11:64575550
GRCh38:
Chr11:64808078
MEN1not providedPathogenic
(Sep 16, 2014)
criteria provided, single submitter
82.
GRCh37:
Chr11:64575551-64575552
GRCh38:
Chr11:64808079-64808080
MEN1Multiple endocrine neoplasia, type 1Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
83.
GRCh37:
Chr11:64577165
GRCh38:
Chr11:64809693
MEN1Multiple endocrine neoplasia, type 1Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
84.
GRCh37:
Chr11:64577167
GRCh38:
Chr11:64809695
MEN1Multiple endocrine neoplasia, type 1Pathogenic
(Dec 1, 2000)
no assertion criteria provided
85.
GRCh37:
Chr11:64577180
GRCh38:
Chr11:64809708
MEN1Multiple endocrine neoplasia, type 1, not providedPathogenic
(Mar 20, 2015)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr11:64577222-64577224
GRCh38:
Chr11:64809750-64809752
MEN1Multiple endocrine neoplasia, type 1, not providedPathogenic
(Nov 10, 2014)
criteria provided, single submitter
87.
GRCh37:
Chr11:64577224
GRCh38:
Chr11:64809752
MEN1Multiple endocrine neoplasia, type 1Pathogenic
(Jan 12, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr11:64577259
GRCh38:
Chr11:64809787
MEN1Multiple endocrine neoplasia, type 1Pathogenic
(Jan 29, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr11:64577260
GRCh38:
Chr11:64809788
MEN1not providedPathogenic
(Apr 14, 2015)
criteria provided, single submitter
90.
GRCh37:
Chr11:64577275
GRCh38:
Chr11:64809803
MEN1Multiple endocrine neoplasia, type 1, not providedPathogenic
(Aug 19, 2014)
criteria provided, single submitter
91.
GRCh37:
Chr11:64577330
GRCh38:
Chr11:64809858
MEN1Multiple endocrine neoplasia, type 1Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
92.
GRCh37:
Chr11:64577330-64577333
GRCh38:
Chr11:64809858-64809861
MEN1Multiple endocrine neoplasia, type 1, Lipoma, somatic, not provided
Pathogenic
(Nov 21, 2015)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr11:64577370-64577371
GRCh38:
Chr11:64809898-64809899
MEN1Multiple endocrine neoplasia, type 1, not providedPathogenic
(Feb 9, 2015)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr11:64577375-64577376
GRCh38:
Chr11:64809903-64809904
MEN1Multiple endocrine neoplasia, type 1, not providedPathogenic
(Feb 18, 2015)
criteria provided, single submitter
95.
GRCh37:
Chr11:64577418
GRCh38:
Chr11:64809946
MEN1not providedPathogenic
(Jan 10, 2014)
criteria provided, single submitter
96.
GRCh37:
Chr11:64577435
GRCh38:
Chr11:64809963
MEN1not providedPathogenic
(Jul 25, 2013)
criteria provided, single submitter
97.
GRCh37:
Chr11:64577458-64577463
GRCh38:
Chr11:64809986-64809991
MEN1Multiple endocrine neoplasia, type 1Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
98.
GRCh37:
Chr11:64577494-64577503
GRCh38:
Chr11:64810022-64810031
MEN1not providedPathogenic
(Jul 10, 2013)
criteria provided, single submitter
99.
GRCh37:
Chr11:64577497
GRCh38:
Chr11:64810025
MEN1not providedPathogenic
(Oct 29, 2013)
criteria provided, single submitter
100.
GRCh37:
Chr11:64577506
GRCh38:
Chr11:64810034
MEN1not providedPathogenic
(May 20, 2014)
criteria provided, single submitter
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