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Items: 1 to 100 of 612

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr19:1221954
GRCh38:
Chr19:1221955
STK11not providedLikely pathogenic
(Dec 19, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr19:1207179
GRCh38:
Chr19:1207180
STK11not specifiedLikely benign
(Dec 19, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr19:1207128
GRCh38:
Chr19:1207129
STK11not specifiedLikely benign
(Dec 16, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr19:1206960
GRCh38:
Chr19:1206961
STK11not specifiedLikely benign
(Nov 28, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr19:1226682
GRCh38:
Chr19:1226683
STK11not specifiedLikely benign
(Oct 27, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr19:1226681
GRCh38:
Chr19:1226682
STK11not specifiedLikely benign
(Oct 26, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr19:1226652
GRCh38:
Chr19:1226653
STK11not specifiedLikely benign
(Oct 31, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr19:1223185
GRCh38:
Chr19:1223186
STK11not specifiedLikely benign
(Oct 10, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr19:1226440
GRCh38:
Chr19:1226441
STK11not specifiedGMAF:0.00020(A)Likely benign
(Aug 22, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr19:1226638
GRCh38:
Chr19:1226639
STK11not specifiedUncertain significance
(Aug 18, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr19:1221284
GRCh38:
Chr19:1221285
STK11not specifiedLikely benign
(Aug 19, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr19:1226680
GRCh38:
Chr19:1226681
STK11not specifiedLikely benign
(Jul 25, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr19:1219423
GRCh38:
Chr19:1219424
STK11not specifiedGMAF:0.00020(A)Likely benign
(Jul 25, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr19:1220451
GRCh38:
Chr19:1220452
STK11not specifiedLikely benign
(Jul 13, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr19:1226655
GRCh38:
Chr19:1226656
STK11not specifiedLikely benign
(Jul 7, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr19:1206865
GRCh38:
Chr19:1206866
STK11not specifiedLikely benign
(Jan 31, 2017)
criteria provided, single submitter
17.
GRCh37:
Chr19:1221215
GRCh38:
Chr19:1221216
STK11not specifiedLikely benign
(Jan 23, 2017)
criteria provided, single submitter
18.
GRCh37:
Chr19:1221359
GRCh38:
Chr19:1221360
STK11not specifiedLikely benign
(Jun 16, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr19:1220352
GRCh38:
Chr19:1220353
STK11not specifiedLikely benign
(Jun 13, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr19:1226670
GRCh38:
Chr19:1226671
STK11not specifiedLikely benign
(Jun 3, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr19:1218428
GRCh38:
Chr19:1218429
STK11not specifiedLikely benign
(May 26, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr19:1223095
GRCh38:
Chr19:1223096
STK11not specifiedLikely benign
(May 11, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr19:1206894
GRCh38:
Chr19:1206895
STK11not specifiedLikely benign
(May 3, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr19:1227593
GRCh38:
Chr19:1227594
STK11not specifiedLikely benign
(May 2, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr19:1227578
GRCh38:
Chr19:1227579
STK11not specifiedLikely benign
(Apr 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr19:1220708
GRCh38:
Chr19:1220709
STK11not specifiedGO-ESP:0.00007(A)Likely benign
(Apr 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr19:1218425
GRCh38:
Chr19:1218426
STK11not specifiedLikely benign
(Apr 13, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr19:1206903
GRCh38:
Chr19:1206904
STK11not specifiedLikely benign
(Jun 2, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr19:1222980
GRCh38:
Chr19:1222981
STK11not specifiedLikely benign
(Apr 4, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr19:1221236
GRCh38:
Chr19:1221237
STK11not specifiedLikely benign
(Mar 10, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr19:1207080
GRCh38:
Chr19:1207081
STK11not specifiedLikely benign
(Feb 29, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr19:1223187
GRCh38:
Chr19:1223188
STK11not specifiedLikely benign
(Feb 25, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr19:1223190
GRCh38:
Chr19:1223191
STK11not specifiedLikely benign
(Feb 16, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr19:1206902
GRCh38:
Chr19:1206903
STK11not specifiedLikely benign
(Feb 11, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr19:1226484
GRCh38:
Chr19:1226485
STK11not specifiedLikely benign
(Feb 1, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr19:1223183
GRCh38:
Chr19:1223184
STK11not specifiedLikely benign
(Jan 15, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr19:1221931
GRCh38:
Chr19:1221932
STK11not specifiedLikely benign
(Jan 11, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr19:1227586
GRCh38:
Chr19:1227587
STK11not specifiedLikely benign
(Dec 31, 2015)
criteria provided, single submitter
39.
GRCh37:
Chr19:1219427
GRCh38:
Chr19:1219428
STK11not specifiedLikely benign
(Dec 16, 2015)
criteria provided, single submitter
40.
GRCh37:
Chr19:1218396
GRCh38:
Chr19:1218397
STK11not specifiedLikely benign
(Dec 11, 2015)
criteria provided, single submitter
41.
GRCh37:
Chr19:1223065
GRCh38:
Chr19:1223066
STK11not specifiedLikely benign
(Dec 4, 2015)
criteria provided, single submitter
42.
GRCh37:
Chr19:1220486
GRCh38:
Chr19:1220487
STK11not specifiedLikely benign
(Nov 24, 2015)
criteria provided, single submitter
43.
GRCh37:
Chr19:1226676
GRCh38:
Chr19:1226677
STK11not specifiedLikely benign
(Nov 25, 2015)
criteria provided, single submitter
44.
GRCh37:
Chr19:1218402
GRCh38:
Chr19:1218403
STK11not specifiedLikely benign
(Oct 27, 2015)
criteria provided, single submitter
45.
GRCh37:
Chr19:1220645
GRCh38:
Chr19:1220646
STK11not specifiedGO-ESP:0.00001(T)Likely benign
(Oct 22, 2015)
criteria provided, single submitter
46.
GRCh37:
Chr19:1207213
GRCh38:
Chr19:1207214
STK11not specifiedLikely benign
(Oct 22, 2015)
criteria provided, single submitter
47.
GRCh37:
Chr19:1220672
GRCh38:
Chr19:1220673
STK11not specifiedLikely benign
(Oct 19, 2015)
criteria provided, single submitter
48.
GRCh37:
Chr19:1221320
GRCh38:
Chr19:1221321
STK11not specifiedLikely benign
(Sep 30, 2015)
criteria provided, single submitter
49.
GRCh37:
Chr19:1221195
GRCh38:
Chr19:1221196
STK11not specifiedLikely benign
(Mar 2, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr19:1207075
GRCh38:
Chr19:1207076
STK11not specifiedLikely benign
(Mar 10, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr19:1220735
GRCh38:
Chr19:1220736
STK11not specifiedLikely benign
(Oct 5, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr19:1226438
GRCh38:
Chr19:1226439
STK11not specifiedLikely benign
(Apr 21, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr19:1219362
GRCh38:
Chr19:1219363
STK11not specifiedLikely benign
(Aug 3, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr19:1206864
GRCh38:
Chr19:1206865
STK11not specifiedBenign
(Apr 9, 2015)
criteria provided, single submitter
55.
GRCh37:
Chr19:1221243
GRCh38:
Chr19:1221244
STK11not providedPathogenic
(Apr 7, 2015)
criteria provided, single submitter
56.
GRCh37:
Chr19:1220357
GRCh38:
Chr19:1220358
STK11not specifiedLikely benign
(Nov 11, 2015)
criteria provided, single submitter
57.
GRCh37:
Chr19:1221203
GRCh38:
Chr19:1221204
STK11not specifiedGMAF:0.00020(A)Likely benign
(Jun 10, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr19:1220733
GRCh38:
Chr19:1220734
STK11not specifiedBenign
(May 26, 2015)
criteria provided, single submitter
59.
GRCh37:
Chr19:1227579
GRCh38:
Chr19:1227580
STK11not specifiedLikely benign
(Oct 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr19:1226678
GRCh38:
Chr19:1226679
STK11not specifiedLikely benign
(Jan 2, 2017)
criteria provided, single submitter
61.
GRCh37:
Chr19:1226669
GRCh38:
Chr19:1226670
STK11not specifiedLikely benign
(Feb 1, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr19:1226657
GRCh38:
Chr19:1226658
STK11not specifiedLikely benign
(Mar 23, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr19:1226439
GRCh38:
Chr19:1226440
STK11not specifiedBenign
(Jul 9, 2015)
criteria provided, single submitter
64.
GRCh37:
Chr19:1221942
GRCh38:
Chr19:1221943
STK11not specifiedBenign
(May 26, 2015)
criteria provided, single submitter
65.
GRCh37:
Chr19:1221934
GRCh38:
Chr19:1221935
STK11not specifiedLikely benign
(Nov 17, 2015)
criteria provided, single submitter
66.
GRCh37:
Chr19:1221314
GRCh38:
Chr19:1221315
STK11not specifiedBenign
(Sep 21, 2015)
criteria provided, single submitter
67.
GRCh37:
Chr19:1220693
GRCh38:
Chr19:1220694
STK11not providedLikely pathogenic
(Sep 30, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr19:1207217
GRCh38:
Chr19:1207218
STK11not specifiedLikely benign
(Nov 11, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr19:1206996
GRCh38:
Chr19:1206997
STK11not specifiedBenign
(Apr 9, 2015)
criteria provided, single submitter
70.
GRCh37:
Chr19:1222987
GRCh38:
Chr19:1222988
STK11Peutz-Jeghers syndromeLikely pathogenic
(May 13, 2016)
no assertion criteria provided
71.
GRCh37:
Chr19:1220437
GRCh38:
Chr19:1220438
STK11Peutz-Jeghers syndromeLikely pathogenic
(May 13, 2016)
no assertion criteria provided
72.
GRCh37:
Chr19:1218448
GRCh38:
Chr19:1218449
STK11Peutz-Jeghers syndromeLikely pathogenic
(May 13, 2016)
no assertion criteria provided
73.
GRCh37:
Chr19:1207168
GRCh38:
Chr19:1207169
STK11Squamous cell carcinoma of lungLikely pathogenic
(May 13, 2016)
no assertion criteria provided
74.
GRCh37:
Chr19:1220626
GRCh38:
Chr19:1220627
STK11Peutz-Jeghers syndromeLikely pathogenic
(May 13, 2016)
no assertion criteria provided
75.
GRCh37:
Chr19:1223123
GRCh38:
Chr19:1223124
STK11Squamous cell carcinoma of lungLikely pathogenic
(May 13, 2016)
no assertion criteria provided
76.
GRCh37:
Chr19:1220394
GRCh38:
Chr19:1220395
STK11Squamous cell carcinoma of lungLikely pathogenic
(May 13, 2016)
no assertion criteria provided
77.
GRCh37:
Chr19:1218493
GRCh38:
Chr19:1218494
STK11Squamous cell carcinoma of lungLikely pathogenic
(May 13, 2016)
no assertion criteria provided
78.
GRCh37:
Chr19:1220629
GRCh38:
Chr19:1220630
STK11Adenocarcinoma of lungLikely pathogenic
(May 13, 2016)
no assertion criteria provided
79.
GRCh37:
Chr19:1223059
GRCh38:
Chr19:1223060
STK11NeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria provided
80.
GRCh37:
Chr19:1220502
GRCh38:
Chr19:1220503
STK11NeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria provided
81.
GRCh37:
Chr19:1220502
GRCh38:
Chr19:1220503
STK11NeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria provided
82.
GRCh37:
Chr19:1220494
GRCh38:
Chr19:1220495
STK11Non-small cell lung cancerLikely pathogenic
(Jul 14, 2015)
no assertion criteria provided
83.
GRCh37:
Chr19:1220488
GRCh38:
Chr19:1220489
STK11NeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria provided
84.
GRCh37:
Chr19:1207021
GRCh38:
Chr19:1207022
STK11NeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria provided
85.
GRCh37:
Chr19:1220489
GRCh38:
Chr19:1220490
STK11Pancreatic NeoplasmsLikely pathogenic
(Dec 26, 2014)
no assertion criteria provided
86.
GRCh37:
Chr19:1221333-1221335
GRCh38:
Chr19:1221334-1221336
STK11Periorbital hyperpigmentation, Intestinal polyposisLikely pathogenic
(Nov 13, 2015)
criteria provided, single submitter
87.
GRCh37:
Chr19:1222983
GRCh38:
Chr19:1222984
STK11not providedPathogenic
(Jun 19, 2015)
criteria provided, single submitter
88.
GRCh37:
Chr19:1221267-1221270
GRCh38:
Chr19:1221268-1221271
STK11not providedPathogenic
(Jun 29, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr19:1221211
GRCh38:
Chr19:1221212
STK11not providedPathogenic
(Aug 12, 2015)
criteria provided, single submitter
90.
GRCh37:
Chr19:1219318
GRCh38:
Chr19:1219319
STK11Peutz-Jeghers syndromeLikely benign
(Oct 28, 2016)
criteria provided, single submitter
91.
GRCh37:
Chr19:1226440
GRCh38:
Chr19:1226441
STK11Peutz-Jeghers syndromeGMAF:0.00020(A)
GO-ESP:0.00012(A)
Likely benign
(Oct 25, 2016)
criteria provided, single submitter
92.
GRCh37:
Chr19:1221313-1221314
GRCh38:
Chr19:1221314-1221315
STK11Peutz-Jeghers syndromeUncertain significance
(Oct 3, 2016)
criteria provided, single submitter
93.
GRCh37:
Chr19:1221362
GRCh38:
Chr19:1221363
STK11Peutz-Jeghers syndromeGMAF:0.00020(T)
GO-ESP:0.00005(T)
Likely benign
(Sep 15, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr19:1221193
GRCh38:
Chr19:1221194
STK11Peutz-Jeghers syndromeLikely benign
(Jul 20, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr19:1222034
GRCh38:
Chr19:1222035
STK11Peutz-Jeghers syndromeGMAF:0.00020(C)
GO-ESP:0.00010(A)
Likely benign
(Jun 22, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr19:1207224
GRCh38:
Chr19:1207225
STK11Peutz-Jeghers syndromeGMAF:0.00020(T)
GO-ESP:0.00009(T)
Likely benign
(May 17, 2016)
criteria provided, single submitter
97.
GRCh37:
Chr19:1222012-1222013
GRCh38:
Chr19:1222013-1222014
STK11Peutz-Jeghers syndromeUncertain significance
(Jan 6, 2016)
criteria provided, single submitter
98.
GRCh37:
Chr19:1221206-1221210
GRCh38:
Chr19:1221207-1221211
STK11Peutz-Jeghers syndromeUncertain significance
(Nov 18, 2015)
criteria provided, single submitter
99.
GRCh37:
Chr19:1228418-1228426
GRCh38:
Chr19:1228419-1228427
STK11, CBARPPeutz-Jeghers syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr19:1228332
GRCh38:
Chr19:1228333
STK11, CBARPPeutz-Jeghers syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
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