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Items: 1 to 100 of 307

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr19:1205798-1207202
GRCh38:
Chr19:1205799-1207203
STK11Peutz-Jeghers syndromePathogenic
(Mar 21, 2018)
criteria provided, single submitter
2.
GRCh37:
Chr19:1206931
GRCh38:
Chr19:1206932
STK11Q7*Peutz-Jeghers syndromePathogenic
(Apr 20, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr19:1206938-1206939
GRCh38:
Chr19:1206939-1206940
STK11M11fsPeutz-Jeghers syndromePathogenic
(Sep 2, 2021)
criteria provided, single submitter
4.
GRCh37:
Chr19:1206978
GRCh38:
Chr19:1206979
STK11D23fsHereditary cancer-predisposing syndromePathogenic
(Aug 20, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr19:1206981
GRCh38:
Chr19:1206982
STK11D23fsPeutz-Jeghers syndromeLikely pathogenic
(Oct 5, 2020)
criteria provided, single submitter
6.
GRCh37:
Chr19:1206988-1206989
GRCh38:
Chr19:1206989-1206990
STK11E33fsPeutz-Jeghers syndromePathogenic
(Nov 19, 2019)
criteria provided, single submitter
7.
GRCh37:
Chr19:1206992-1206993
GRCh38:
Chr19:1206993-1206994
STK11R28fsPeutz-Jeghers syndromePathogenic
(Jul 2, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr19:1207003-1207004
GRCh38:
Chr19:1207004-1207005
STK11T32fsHereditary cancer-predisposing syndromePathogenic
(May 2, 2013)
criteria provided, single submitter
9.
GRCh37:
Chr19:1207016-1207017
GRCh38:
Chr19:1207017-1207018
STK11Y36fsPeutz-Jeghers syndromePathogenic
(May 21, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr19:1207018-1207019
GRCh38:
Chr19:1207019-1207020
STK11Y36*Hereditary cancer-predisposing syndromePathogenic
(Mar 1, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr19:1207018
GRCh38:
Chr19:1207019
STK11Y36fsHereditary cancer-predisposing syndromePathogenic
(Dec 7, 2012)
criteria provided, single submitter
12.
GRCh37:
Chr19:1207019-1207020
GRCh38:
Chr19:1207020-1207021
STK11Q37fsPeutz-Jeghers syndromePathogenic
(Feb 7, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr19:1207020
GRCh38:
Chr19:1207021
STK11Y36*Hereditary cancer-predisposing syndromePathogenic
(Aug 4, 2017)
criteria provided, single submitter
14.
GRCh37:
Chr19:1207020
GRCh38:
Chr19:1207021
STK11Y36*Carcinoma of pancreasPathogenic
(Jun 1, 1999)
no assertion criteria provided
15.
GRCh37:
Chr19:1207021
GRCh38:
Chr19:1207022
STK11Q37*Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndromePathogenic
(Aug 12, 2021)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr19:1207040
GRCh38:
Chr19:1207041
STK11K44fsPeutz-Jeghers syndromePathogenic
(Jul 9, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr19:1207043-1207044
GRCh38:
Chr19:1207044-1207045
STK11L45fsPeutz-Jeghers syndromePathogenic
(Dec 27, 2020)
criteria provided, single submitter
18.
GRCh37:
Chr19:1207046-1207057
GRCh38:
Chr19:1207047-1207058
STK11Hereditary cancer-predisposing syndromePathogenic
(Nov 27, 2013)
criteria provided, single submitter
19.
GRCh37:
Chr19:1207052-1207053
GRCh38:
Chr19:1207053-1207054
STK11K48fsPeutz-Jeghers syndromePathogenic/Likely pathogenic
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr19:1207056-1207057
GRCh38:
Chr19:1207057-1207058
STK11Y49fsPeutz-Jeghers syndromePathogenic
(Sep 23, 2020)
criteria provided, single submitter
21.
GRCh37:
Chr19:1207057
GRCh38:
Chr19:1207058
STK11Y49DMelanoma, cutaneous malignant, susceptibility to, 1Pathogenic
(Apr 1, 1999)
no assertion criteria provided
22.
GRCh37:
Chr19:1207058-1207069
GRCh38:
Chr19:1207059-1207070
STK11Hereditary cancer-predisposing syndromeLikely pathogenic
(Feb 12, 2015)
criteria provided, single submitter
23.
GRCh37:
Chr19:1207063-1207064
GRCh38:
Chr19:1207064-1207065
STK11M51fsPeutz-Jeghers syndromePathogenic
(May 20, 2019)
no assertion criteria provided
24.
GRCh37:
Chr19:1207064-1207065
GRCh38:
Chr19:1207065-1207066
STK11D53fsHereditary cancer-predisposing syndromePathogenic
(Dec 15, 2020)
criteria provided, single submitter
25.
GRCh37:
Chr19:1207064-1207065
GRCh38:
Chr19:1207065-1207066
STK11D53fsHereditary cancer-predisposing syndrome, Peutz-Jeghers syndromePathogenic
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr19:1207065-1207066
GRCh38:
Chr19:1207066-1207067
STK11D53fsHereditary cancer-predisposing syndromePathogenic
(Jul 4, 2012)
criteria provided, single submitter
27.
GRCh37:
Chr19:1207069-1207070
GRCh38:
Chr19:1207070-1207071
STK11D53fsPeutz-Jeghers syndromePathogenic
(Aug 23, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr19:1207076-1207077
GRCh38:
Chr19:1207077-1207078
STK11E57fsHereditary cancer-predisposing syndrome, not provided, Peutz-Jeghers syndrome
Pathogenic/Likely pathogenic
(Sep 3, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr19:1207081
GRCh38:
Chr19:1207082
STK11E57*Peutz-Jeghers syndromePathogenic
(Aug 28, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr19:1207090-1207091
GRCh38:
Chr19:1207091-1207092
STK11Y60*Hereditary cancer-predisposing syndromePathogenic
(Mar 25, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr19:1207090-1207091
GRCh38:
Chr19:1207091-1207092
STK11G61fsPeutz-Jeghers syndromePathogenic
(Jun 28, 2017)
criteria provided, single submitter
32.
GRCh37:
Chr19:1207090-1207091
GRCh38:
Chr19:1207091-1207092
STK11Y60*not provided, Peutz-Jeghers syndromePathogenic/Likely pathogenic
(Jul 15, 2021)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr19:1207092
GRCh38:
Chr19:1207093
STK11not provided, Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
Pathogenic
(Sep 29, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr19:1207092
GRCh38:
Chr19:1207093
STK11Y60*Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndromePathogenic
(Feb 21, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr19:1207092
GRCh38:
Chr19:1207093
STK11Y60*Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndromePathogenic
(Jul 5, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr19:1207103-1207131
GRCh38:
Chr19:1207104-1207132
STK11V66fsPeutz-Jeghers syndromePathogenic
(Aug 23, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr19:1207107-1207110
GRCh38:
Chr19:1207108-1207111
STK11E65fsHereditary cancer-predisposing syndromePathogenic
(Mar 11, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr19:1207108-1207109
GRCh38:
Chr19:1207109-1207110
STK11L67fsPeutz-Jeghers syndromePathogenic
(Apr 10, 1999)
no assertion criteria provided
39.
GRCh37:
Chr19:1207111
GRCh38:
Chr19:1207112
STK11not provided, Peutz-Jeghers syndromePathogenic/Likely pathogenic
(Mar 7, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr19:1207112
GRCh38:
Chr19:1207113
STK11L67PHereditary cancer-predisposing syndrome, not provided, Peutz-Jeghers syndrome
Pathogenic/Likely pathogenic
(Mar 3, 2023)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr19:1207120-1207121
GRCh38:
Chr19:1207121-1207122
STK11T71fsHereditary cancer-predisposing syndromePathogenic
(Apr 15, 2013)
criteria provided, single submitter
42.
GRCh37:
Chr19:1207128-1207140
GRCh38:
Chr19:1207129-1207141
STK11C73fsHereditary cancer-predisposing syndromePathogenic
(Sep 10, 2014)
criteria provided, single submitter
43.
GRCh37:
Chr19:1207153
GRCh38:
Chr19:1207154
STK11K81fsHereditary cancer-predisposing syndromePathogenic
(Jun 2, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr19:1207158
GRCh38:
Chr19:1207159
STK11K83fsHereditary cancer-predisposing syndromePathogenic
(May 2, 2015)
criteria provided, single submitter
45.
GRCh37:
Chr19:1207162
GRCh38:
Chr19:1207163
STK11K84*Hereditary cancer-predisposing syndrome, not provided, Peutz-Jeghers syndrome
Pathogenic
(Aug 27, 2021)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr19:1207168
GRCh38:
Chr19:1207169
STK11R86fsHereditary cancer-predisposing syndromePathogenic
(Jul 1, 2020)
criteria provided, single submitter
47.
GRCh37:
Chr19:1207168
GRCh38:
Chr19:1207169
STK11R86*Peutz-Jeghers syndromePathogenic
(Sep 1, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr19:1207168
GRCh38:
Chr19:1207169
STK11R86GSquamous cell lung carcinomaLikely pathogenic
(May 13, 2016)
no assertion criteria provided
49.
GRCh37:
Chr19:1207172-1207173
GRCh38:
Chr19:1207173-1207174
STK11I88fsPeutz-Jeghers syndromePathogenic
(Apr 2, 2019)
criteria provided, single submitter
50.
GRCh37:
Chr19:1207176
GRCh38:
Chr19:1207177
STK11N90fsHereditary cancer-predisposing syndromePathogenic
(May 29, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr19:1207198-1207199
GRCh38:
Chr19:1207199-1207200
STK11K97fsPeutz-Jeghers syndrome, Hereditary cancer-predisposing syndromePathogenic
(Sep 17, 2022)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr19:1207201
GRCh38:
Chr19:1207202
STK11K97*Peutz-Jeghers syndromePathogenic
(Jan 29, 2019)
criteria provided, single submitter
53.
GRCh37:
Chr19:1207202-1207208
GRCh38:
Chr19:1207203-1207209
STK11Peutz-Jeghers syndromeLikely pathogenic
(Sep 12, 2017)
criteria provided, single submitter
54.
GRCh37:
Chr19:1207203
GRCh38:
Chr19:1207204
STK11Peutz-Jeghers syndromePathogenic
(Jul 14, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr19:1207203
GRCh38:
Chr19:1207204
STK11Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndromePathogenic
(Oct 29, 2020)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr19:1207203
GRCh38:
Chr19:1207204
STK11Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndromePathogenic
(Sep 22, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr19:1207204-1207206
GRCh38:
Chr19:1207205-1207207
STK11Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndromeLikely pathogenic
(May 9, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr19:1218400-1218416
GRCh38:
Chr19:1218401-1218417
STK11Peutz-Jeghers syndromeLikely pathogenic
(Sep 5, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr19:1218413-1218589
GRCh38:
Chr19:1218414-1218590
STK11Generalized juvenile polyposis/juvenile polyposis coliLikely pathogenicno assertion criteria provided
60.
GRCh37:
Chr19:1218414
GRCh38:
Chr19:1218415
STK11Peutz-Jeghers syndromePathogenic
(Sep 1, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr19:1218414
GRCh38:
Chr19:1218415
STK11Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndromePathogenic
(Aug 24, 2021)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr19:1218415
GRCh38:
Chr19:1218416
STK11Peutz-Jeghers syndromePathogenic
(Aug 28, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr19:1218415
GRCh38:
Chr19:1218416
STK11Hereditary cancer-predisposing syndromePathogenic
(Nov 13, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr19:1218415
GRCh38:
Chr19:1218416
STK11Peutz-Jeghers syndromePathogenic
(Aug 12, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr19:1218416-1219412
GRCh38:
Chr19:1218417-1219413
STK11Peutz-Jeghers syndromePathogenic
(Apr 14, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr19:1218439
GRCh38:
Chr19:1218440
STK11L105*Peutz-Jeghers syndromePathogenic
(Sep 19, 2019)
criteria provided, single submitter
67.
GRCh37:
Chr19:1218446-1218447
GRCh38:
Chr19:1218447-1218448
STK11N109fsPeutz-Jeghers syndromeLikely pathogenic
(Sep 29, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr19:1218447
GRCh38:
Chr19:1218448
STK11N109fsnot provided, Peutz-Jeghers syndromePathogenic
(Oct 5, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr19:1218453
GRCh38:
Chr19:1218454
STK11V110fsPeutz-Jeghers syndromePathogenic
(Mar 26, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr19:1218454
GRCh38:
Chr19:1218455
STK11V110DPeutz-Jeghers syndromeLikely pathogenic
(Feb 1, 2022)
no assertion criteria provided
71.
GRCh37:
Chr19:1218457
GRCh38:
Chr19:1218458
STK11I111fsPeutz-Jeghers syndromePathogenic
(Feb 24, 2023)
criteria provided, single submitter
72.
GRCh37:
Chr19:1218457-1218458
GRCh38:
Chr19:1218458-1218459
STK11I111fsPeutz-Jeghers syndromePathogenic
(Aug 11, 2020)
criteria provided, single submitter
73.
GRCh37:
Chr19:1218459
GRCh38:
Chr19:1218460
STK11Q112*Peutz-Jeghers syndromePathogenic
(Mar 29, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr19:1218471-1218472
GRCh38:
Chr19:1218472-1218473
STK11L117fsPeutz-Jeghers syndromePathogenic
(Apr 28, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr19:1218474
GRCh38:
Chr19:1218475
STK11L117fsPeutz-Jeghers syndromePathogenic
(May 26, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr19:1218478-1218486
GRCh38:
Chr19:1218479-1218487
STK11Peutz-Jeghers syndromePathogenic
(Sep 1, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr19:1218479
GRCh38:
Chr19:1218480
STK11Y118*Peutz-Jeghers syndromePathogenic
(Oct 6, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr19:1218482
GRCh38:
Chr19:1218483
STK11N119fsHereditary cancer-predisposing syndromePathogenic
(Jul 15, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr19:1218483
GRCh38:
Chr19:1218484
STK11E120*Hereditary cancer-predisposing syndrome, not provided, Peutz-Jeghers syndrome
Pathogenic/Likely pathogenic
(Jul 15, 2021)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr19:1218487-1218488
GRCh38:
Chr19:1218488-1218489
STK11Q123fsHereditary cancer-predisposing syndromePathogenic
(Jan 8, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr19:1218492
GRCh38:
Chr19:1218493
STK11Q123*Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndromePathogenic
(Aug 28, 2021)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr19:1218494-1218495
GRCh38:
Chr19:1218495-1218496
STK11M125fsHereditary cancer-predisposing syndromePathogenic
(Oct 30, 2015)
criteria provided, single submitter
83.
GRCh37:
Chr19:1218500
GRCh38:
Chr19:1218501
STK11Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndromePathogenic
(Jan 28, 2022)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr19:1219333
GRCh38:
Chr19:1219334
STK11M129fsPeutz-Jeghers syndromePathogenic
(Jul 13, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr19:1219336
GRCh38:
Chr19:1219337
STK11E130*Hereditary cancer-predisposing syndromePathogenic
(Dec 21, 2017)
criteria provided, single submitter
86.
GRCh37:
Chr19:1219341
GRCh38:
Chr19:1219342
STK11Y131*not providedPathogenic
(Sep 21, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr19:1219342
GRCh38:
Chr19:1219343
STK11C132fsPeutz-Jeghers syndromePathogenic
(Oct 31, 2015)
criteria provided, single submitter
88.
GRCh37:
Chr19:1219344
GRCh38:
Chr19:1219345
STK11C132*Hereditary cancer-predisposing syndromePathogenic
(Nov 8, 2015)
criteria provided, single submitter
89.
GRCh37:
Chr19:1219345-1219346
GRCh38:
Chr19:1219346-1219347
STK11C134fsHereditary cancer-predisposing syndrome, Peutz-Jeghers syndromePathogenic
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr19:1219351
GRCh38:
Chr19:1219352
STK11G135RMelanoma, cutaneous malignant, susceptibility to, 1Pathogenic
(Apr 1, 1999)
no assertion criteria provided
91.
GRCh37:
Chr19:1219357
GRCh38:
Chr19:1219358
STK11Q137*Hereditary cancer-predisposing syndromePathogenic
(Sep 15, 2016)
criteria provided, single submitter
92.
GRCh37:
Chr19:1219366
GRCh38:
Chr19:1219367
STK11L140fsHereditary cancer-predisposing syndrome, Peutz-Jeghers syndromePathogenic
(Feb 19, 2022)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr19:1219372-1219384
GRCh38:
Chr19:1219373-1219385
STK11P144fsPeutz-Jeghers syndromePathogenic
(Nov 15, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr19:1219374-1219375
GRCh38:
Chr19:1219375-1219376
STK11Q152fsPeutz-Jeghers syndromePathogenic
(Mar 22, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr19:1219388-1219389
GRCh38:
Chr19:1219389-1219390
STK11R147fsPeutz-Jeghers syndromePathogenic
(Dec 16, 2016)
no assertion criteria provided
96.
GRCh37:
Chr19:1219392
GRCh38:
Chr19:1219393
STK11P149fsHereditary cancer-predisposing syndromePathogenic
(Jan 17, 2013)
criteria provided, single submitter
97.
GRCh37:
Chr19:1219402
GRCh38:
Chr19:1219403
STK11Q152*Peutz-Jeghers syndromePathogenic
(Aug 31, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr19:1219409-1219410
GRCh38:
Chr19:1219410-1219411
STK11G155fsHereditary cancer-predisposing syndromePathogenic
(Dec 13, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr19:1219410-1219411
GRCh38:
Chr19:1219411-1219412
STK11Peutz-Jeghers syndromePathogenic
(Aug 28, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr19:1219413
GRCh38:
Chr19:1219414
STK11Hereditary cancer-predisposing syndromeLikely pathogenic
(May 6, 2021)
criteria provided, single submitter
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