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Links from MedGen

Items: 1 to 100 of 1732

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr19:1221340
GRCh38:
Chr19:1221341
STK11Peutz-Jeghers syndromePathogenic
(Feb 8, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr19:1220443
GRCh38:
Chr19:1220444
STK11P179RPeutz-Jeghers syndromePathogenic
(May 18, 2023)
criteria provided, single submitter
3.
GRCh37:
Chr19:1218417
GRCh38:
Chr19:1218418
STK11E98KPeutz-Jeghers syndromeUncertain significance
(Jan 27, 2023)
criteria provided, single submitter
4.
GRCh37:
Chr19:1218457
GRCh38:
Chr19:1218458
STK11I111fsPeutz-Jeghers syndromePathogenic
(Feb 24, 2023)
criteria provided, single submitter
5.
GRCh37:
Chr19:1219313-1220726
STK11Peutz-Jeghers syndromePathogenic
(Jul 7, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr19:1218469
GRCh38:
Chr19:1218470
STK11D115GPeutz-Jeghers syndromeUncertain significance
(Jun 26, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr19:1221928
GRCh38:
Chr19:1221929
STK11Peutz-Jeghers syndromeLikely benign
(Jun 23, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr19:1207125
GRCh38:
Chr19:1207126
STK11Peutz-Jeghers syndromeLikely benign
(Oct 12, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr19:1207060
GRCh38:
Chr19:1207061
STK11L50VPeutz-Jeghers syndromeUncertain significance
(Oct 12, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr19:1221931
GRCh38:
Chr19:1221932
STK11Peutz-Jeghers syndromeLikely benign
(Sep 14, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr19:1220352
GRCh38:
Chr19:1220353
STK11Peutz-Jeghers syndromeLikely benign
(Apr 26, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr19:1220664
GRCh38:
Chr19:1220665
STK11L228MPeutz-Jeghers syndromeUncertain significance
(Jun 13, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr19:1223046
GRCh38:
Chr19:1223047
STK11T328NPeutz-Jeghers syndromeUncertain significance
(Mar 26, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr19:1221329
GRCh38:
Chr19:1221330
STK11D284EPeutz-Jeghers syndromeUncertain significance
(Feb 23, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr19:1222964
GRCh38:
Chr19:1222965
STK11Peutz-Jeghers syndromeLikely benign
(Mar 27, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr19:1221959
GRCh38:
Chr19:1221960
STK11Y292HPeutz-Jeghers syndromeUncertain significance
(Jul 12, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr19:1220518
GRCh38:
Chr19:1220519
STK11Peutz-Jeghers syndromeLikely benign
(Sep 12, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr19:1220728
GRCh38:
Chr19:1220729
STK11Peutz-Jeghers syndromeLikely benign
(Aug 5, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr19:1226437-1226438
GRCh38:
Chr19:1226438-1226439
STK11Peutz-Jeghers syndromeUncertain significance
(Jul 3, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr19:1218486
GRCh38:
Chr19:1218487
STK11E121KHereditary cancer-predisposing syndrome, Peutz-Jeghers syndromeUncertain significance
(Jan 8, 2023)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr19:1222983
GRCh38:
Chr19:1222984
STK11Peutz-Jeghers syndromePathogenic
(Dec 2, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr19:1221994
GRCh38:
Chr19:1221995
STK11I303MPeutz-Jeghers syndromeUncertain significance
(May 12, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr19:1221287-1221288
GRCh38:
Chr19:1221288-1221289
STK11S271fsPeutz-Jeghers syndromePathogenic
(Sep 26, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr19:1221202
GRCh38:
Chr19:1221203
STK11Peutz-Jeghers syndromePathogenic
(Jan 2, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr19:1220721
GRCh38:
Chr19:1220722
STK11Peutz-Jeghers syndromePathogenic
(Jun 23, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr19:1222024
GRCh38:
Chr19:1222025
STK11Peutz-Jeghers syndromeLikely benign
(May 9, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr19:1222023
GRCh38:
Chr19:1222024
STK11Peutz-Jeghers syndromeLikely benign
(Jun 14, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr19:1206963
GRCh38:
Chr19:1206964
STK11Peutz-Jeghers syndromeLikely benign
(Oct 20, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr19:1220463
GRCh38:
Chr19:1220464
STK11T186APeutz-Jeghers syndromeUncertain significance
(Apr 30, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr19:1207187
GRCh38:
Chr19:1207188
STK11E92VPeutz-Jeghers syndromeUncertain significance
(Apr 29, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr19:1222993
GRCh38:
Chr19:1222994
STK11Peutz-Jeghers syndromeLikely benign
(Apr 28, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr19:1220672-1220674
GRCh38:
Chr19:1220673-1220675
STK11F231delPeutz-Jeghers syndromeUncertain significance
(Apr 19, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr19:1221953
GRCh38:
Chr19:1221954
STK11L290IPeutz-Jeghers syndromeUncertain significance
(Apr 15, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr19:1226496
GRCh38:
Chr19:1226497
STK11Peutz-Jeghers syndromeLikely benign
(Jul 22, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr19:1220671
GRCh38:
Chr19:1220672
STK11T230SPeutz-Jeghers syndromeUncertain significance
(Apr 11, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr19:1207178
GRCh38:
Chr19:1207179
STK11P89LPeutz-Jeghers syndromeUncertain significance
(Apr 7, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr19:1226548
GRCh38:
Chr19:1226549
STK11T402APeutz-Jeghers syndromeUncertain significance
(Apr 5, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr19:1221255
GRCh38:
Chr19:1221256
STK11I260VPeutz-Jeghers syndromeUncertain significance
(Apr 3, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr19:1207131
GRCh38:
Chr19:1207132
STK11C73WPeutz-Jeghers syndromeUncertain significance
(Mar 27, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr19:1223052
GRCh38:
Chr19:1223053
STK11D330GPeutz-Jeghers syndromeUncertain significance
(Mar 19, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr19:1226442
GRCh38:
Chr19:1226443
STK11Peutz-Jeghers syndromeLikely benign
(Mar 19, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr19:1220652
GRCh38:
Chr19:1220653
STK11I224VPeutz-Jeghers syndromeUncertain significance
(Mar 19, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr19:1220659
GRCh38:
Chr19:1220660
STK11N226SPeutz-Jeghers syndromeUncertain significance
(Jul 22, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr19:1219374-1219375
GRCh38:
Chr19:1219375-1219376
STK11Q152fsPeutz-Jeghers syndromePathogenic
(Mar 22, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr19:1223074
GRCh38:
Chr19:1223075
STK11Peutz-Jeghers syndromeLikely benign
(Sep 3, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr19:1221929
GRCh38:
Chr19:1221930
STK11Peutz-Jeghers syndromeLikely benign
(Mar 10, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr19:1222007
GRCh38:
Chr19:1222008
STK11Peutz-Jeghers syndromeLikely pathogenic
(Mar 6, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr19:1220517
GRCh38:
Chr19:1220518
STK11Peutz-Jeghers syndromeLikely benign
(Mar 27, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr19:1220736
GRCh38:
Chr19:1220737
STK11Peutz-Jeghers syndromeLikely benign
(Mar 1, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr19:1220489
GRCh38:
Chr19:1220490
STK11Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndromeLikely benign
(Jan 5, 2023)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr19:1219426
GRCh38:
Chr19:1219427
STK11Peutz-Jeghers syndromeLikely benign
(Feb 6, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr19:1226442
GRCh38:
Chr19:1226443
STK11Peutz-Jeghers syndromeLikely benign
(Sep 6, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr19:1218411
GRCh38:
Chr19:1218412
STK11Peutz-Jeghers syndromeLikely benign
(Jun 10, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr19:1220389
GRCh38:
Chr19:1220390
STK11I161TPeutz-Jeghers syndromeUncertain significance
(Sep 19, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr19:1220524
GRCh38:
Chr19:1220525
STK11Peutz-Jeghers syndromeLikely benign
(Jan 26, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr19:1220401
GRCh38:
Chr19:1220402
STK11E165fsPeutz-Jeghers syndromePathogenic
(Jan 17, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr19:1222021
GRCh38:
Chr19:1222022
STK11Peutz-Jeghers syndromeLikely benign
(Jan 16, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr19:1223096
GRCh38:
Chr19:1223097
STK11H345YPeutz-Jeghers syndromeUncertain significance
(Jan 11, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr19:1221281
GRCh38:
Chr19:1221282
STK11Peutz-Jeghers syndromeLikely benign
(Jan 11, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr19:1220731
GRCh38:
Chr19:1220732
STK11Peutz-Jeghers syndromeLikely benign
(May 7, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr19:1226530
GRCh38:
Chr19:1226531
STK11E396KPeutz-Jeghers syndromeUncertain significance
(Jan 2, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr19:1221971
GRCh38:
Chr19:1221972
STK11K296*Peutz-Jeghers syndromePathogenic
(Dec 31, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr19:1220567-1220568
GRCh38:
Chr19:1220568-1220569
STK11Peutz-Jeghers syndromeLikely benign
(Dec 30, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr19:1221336
GRCh38:
Chr19:1221337
STK11K287EPeutz-Jeghers syndromeUncertain significance
(Mar 14, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr19:1219412
GRCh38:
Chr19:1219413
STK11G155VPeutz-Jeghers syndromeUncertain significance
(Mar 4, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr19:1220480
GRCh38:
Chr19:1220481
STK11K191NPeutz-Jeghers syndromeUncertain significance
(Dec 23, 2021)
criteria provided, single submitter
67.
GRCh37:
Chr19:1207003
GRCh38:
Chr19:1207004
STK11S31APeutz-Jeghers syndromeUncertain significance
(Mar 18, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr19:1207178
GRCh38:
Chr19:1207179
STK11P89RPeutz-Jeghers syndromeUncertain significance
(Dec 16, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr19:1218478
GRCh38:
Chr19:1218479
STK11Y118CPeutz-Jeghers syndromeUncertain significance
(Jan 3, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr19:1223169
GRCh38:
Chr19:1223170
STK11P369HPeutz-Jeghers syndromeUncertain significance
(Dec 11, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr19:1222022
GRCh38:
Chr19:1222023
STK11Peutz-Jeghers syndromeLikely benign
(Mar 8, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr19:1206963
GRCh38:
Chr19:1206964
STK11Peutz-Jeghers syndromeLikely benign
(Dec 7, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr19:1226460
GRCh38:
Chr19:1226461
STK11Peutz-Jeghers syndromeLikely benign
(Oct 6, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr19:1220363-1220364
GRCh38:
Chr19:1220364-1220365
STK11Peutz-Jeghers syndromePathogenic
(Dec 5, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr19:1223161-1223243
GRCh38:
Chr19:1223162-1223244
STK11Peutz-Jeghers syndromeUncertain significance
(Sep 23, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr19:1223104
GRCh38:
Chr19:1223105
STK11D348fsPeutz-Jeghers syndromeUncertain significance
(Sep 24, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr19:1226550
GRCh38:
Chr19:1226551
STK11Peutz-Jeghers syndromeLikely benign
(Sep 22, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr19:1223180
GRCh38:
Chr19:1223181
STK11Peutz-Jeghers syndromeLikely benign
(Sep 19, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr19:1222006
GRCh38:
Chr19:1222007
STK11Peutz-Jeghers syndromeLikely pathogenic
(Sep 19, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr19:1207041-1207046
GRCh38:
Chr19:1207042-1207047
STK11Peutz-Jeghers syndromeUncertain significance
(Sep 18, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr19:1223053
GRCh38:
Chr19:1223054
STK11Peutz-Jeghers syndromeLikely benign
(Sep 7, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr19:1206936
GRCh38:
Chr19:1206937
STK11Peutz-Jeghers syndromeLikely benign
(Sep 13, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr19:1223092-1223093
GRCh38:
Chr19:1223093-1223094
STK11Peutz-Jeghers syndromeUncertain significance
(Aug 31, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr19:1207069-1207070
GRCh38:
Chr19:1207070-1207071
STK11D53fsPeutz-Jeghers syndromePathogenic
(Aug 23, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr19:1221308-1221332
GRCh38:
Chr19:1221309-1221333
STK11Peutz-Jeghers syndromePathogenic
(Jul 22, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr19:1219333
GRCh38:
Chr19:1219334
STK11M129fsPeutz-Jeghers syndromePathogenic
(Jul 13, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr19:1219306
GRCh38:
Chr19:1219307
STK11Peutz-Jeghers syndromeLikely benign
(Jul 14, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr19:1218513
GRCh38:
Chr19:1218514
STK11Peutz-Jeghers syndromeLikely benign
(Jun 22, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr19:1221235
GRCh38:
Chr19:1221236
STK11Y253CPeutz-Jeghers syndromeUncertain significance
(Jun 11, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr19:1226436-1226437
GRCh38:
Chr19:1226437-1226438
STK11Peutz-Jeghers syndromeLikely benign
(Oct 17, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr19:1220602
GRCh38:
Chr19:1220603
STK11D207VPeutz-Jeghers syndromeUncertain significance
(Jun 8, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr19:1206934
GRCh38:
Chr19:1206935
STK11Q8KPeutz-Jeghers syndromeUncertain significance
(Jun 6, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr19:1220588
GRCh38:
Chr19:1220589
STK11Peutz-Jeghers syndromeLikely benign
(May 31, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr19:1220379
GRCh38:
Chr19:1220380
STK11C158GPeutz-Jeghers syndromeUncertain significance
(May 30, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr19:1220662
GRCh38:
Chr19:1220663
STK11G227DPeutz-Jeghers syndromeUncertain significance
(May 28, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr19:1226604
GRCh38:
Chr19:1226605
STK11Peutz-Jeghers syndromeLikely benign
(May 28, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr19:1218508
GRCh38:
Chr19:1218509
STK11Peutz-Jeghers syndromeLikely benign
(May 24, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr19:1221333
GRCh38:
Chr19:1221334
STK11Peutz-Jeghers syndromeLikely benign
(May 19, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr19:1221967
GRCh38:
Chr19:1221968
STK11Peutz-Jeghers syndromeLikely benign
(May 13, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr19:1220574
GRCh38:
Chr19:1220575
STK11Peutz-Jeghers syndromeLikely benign
(Feb 27, 2022)
criteria provided, single submitter
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