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Links from MedGen

Items: 1 to 100 of 1558

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr17:17122397
GRCh38:
Chr17:17219083
FLCNS333*, S351*Multiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
2.
GRCh37:
Chr17:17122404-17122405
GRCh38:
Chr17:17219090-17219091
FLCNS331fs, S349fsMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
3.
GRCh37:
Chr17:17122473
GRCh38:
Chr17:17219159
FLCNE308*, E326*Multiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
4.
GRCh37:
Chr17:17122473
GRCh38:
Chr17:17219159
FLCNE308fs, E326fsMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
5.
GRCh37:
Chr17:17122488
GRCh38:
Chr17:17219174
FLCNE303*, E321*Multiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
6.
GRCh37:
Chr17:17122488-17122489
GRCh38:
Chr17:17219174-17219175
FLCNE303*, E321*Multiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
7.
GRCh37:
Chr17:17120433
GRCh38:
Chr17:17217119
FLCNW376R, W394RMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
8.
GRCh37:
Chr17:17122508
GRCh38:
Chr17:17219194
FLCNS296*, S314*Multiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
9.
GRCh37:
Chr17:17124863
GRCh38:
Chr17:17221549
FLCNE287*, E305*Multiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
10.
GRCh37:
Chr17:17124883-17124884
GRCh38:
Chr17:17221569-17221570
FLCNE280fs, E298fsMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
11.
GRCh37:
Chr17:17125821-17125824
GRCh38:
Chr17:17222507-17222510
FLCNS257fs, S275fsMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
12.
GRCh37:
Chr17:17131387
GRCh38:
Chr17:17228073
FLCNT22KMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
13.
GRCh37:
Chr17:17127248-17127249
GRCh38:
Chr17:17223934-17223935
FLCNK203fs, K221fsMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
14.
GRCh37:
Chr17:17127277-17127288
GRCh38:
Chr17:17223963-17223974
FLCNL189fs, L207fsMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
15.
GRCh37:
Chr17:17127415
GRCh38:
Chr17:17224101
FLCNQ147*, Q165*Multiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
16.
GRCh37:
Chr17:17127455-17127464
GRCh38:
Chr17:17224141-17224150
FLCNMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
17.
GRCh37:
Chr17:17127459
GRCh38:
Chr17:17224145
FLCNMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
18.
GRCh37:
Chr17:17120494-17120506
GRCh38:
Chr17:17217180-17217192
FLCNMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
19.
GRCh37:
Chr17:17127458
GRCh38:
Chr17:17224144
FLCNMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
20.
GRCh37:
Chr17:17127461-17127470
GRCh38:
Chr17:17224147-17224156
FLCNMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
21.
GRCh37:
Chr17:17127457-17127458
GRCh38:
Chr17:17224143-17224144
FLCNMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
22.
GRCh37:
Chr17:17129537-17129554
GRCh38:
Chr17:17226223-17226240
FLCNMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
23.
GRCh37:
Chr17:17129558
GRCh38:
Chr17:17226244
FLCNQ110*Multiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
24.
GRCh37:
Chr17:17129568
GRCh38:
Chr17:17226254
FLCNY106*Multiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
25.
GRCh37:
Chr17:17131216
GRCh38:
Chr17:17227902
FLCNS79*Multiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
26.
GRCh37:
Chr17:17131267
GRCh38:
Chr17:17227953
FLCNS62fsMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
27.
GRCh37:
Chr17:17131272-17131273
GRCh38:
Chr17:17227958-17227959
FLCNH61fsMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
28.
GRCh37:
Chr17:17131259-17131284
GRCh38:
Chr17:17227945-17227970
FLCNS56fsMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
29.
GRCh37:
Chr17:17117043-17117044
GRCh38:
Chr17:17213729-17213730
FLCNG556fs, G574fsMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
30.
GRCh37:
Chr17:17117109-17117110
GRCh38:
Chr17:17213795-17213796
FLCNK534fs, K552fsMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
31.
GRCh37:
Chr17:17117119-17117120
GRCh38:
Chr17:17213805-17213806
FLCND531fs, D549fsMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
32.
GRCh37:
Chr17:17131295-17131296
GRCh38:
Chr17:17227981-17227982
FLCNQ53fsMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
33.
GRCh37:
Chr17:17117147-17117153
GRCh38:
Chr17:17213833-17213839
FLCNF519fs, F537fsMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
34.
GRCh37:
Chr17:17117156
GRCh38:
Chr17:17213842
FLCNL518P, L536PMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
35.
GRCh37:
Chr17:17118298
GRCh38:
Chr17:17214984
FLCNMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
36.
GRCh37:
Chr17:17118325-17118326
GRCh38:
Chr17:17215011-17215012
FLCNL504fs, L522fsMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
37.
GRCh37:
Chr17:17118346-17118347
GRCh38:
Chr17:17215032-17215033
FLCNV497fs, V515fsMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
38.
GRCh37:
Chr17:17118541
GRCh38:
Chr17:17215227
FLCNE464*, E482*Multiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
39.
GRCh37:
Chr17:17119692
GRCh38:
Chr17:17216378
FLCNMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
40.
GRCh37:
Chr17:17119721
GRCh38:
Chr17:17216407
FLCNQ425*, Q443*Multiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
41.
GRCh37:
Chr17:17119766
GRCh38:
Chr17:17216452
FLCNE410*, E428*Multiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
42.
GRCh37:
Chr17:17131333
GRCh38:
Chr17:17228019
FLCNG40fsMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
43.
GRCh37:
Chr17:17122385-17122388
GRCh38:
Chr17:17219071-17219074
FLCNG336fs, G354fsMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
44.
FLCNMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
45.
FLCNMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
46.
FLCNMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
47.
FLCNMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
48.
FLCNMultiple fibrofolliculomasPathogenic
(Jul 1, 2023)
no assertion criteria provided
49.
GRCh37:
Chr17:17131252-17131253
GRCh38:
Chr17:17227938-17227939
FLCNA67fsnot providedPathogenic
(Aug 15, 2023)
criteria provided, single submitter
50.
GRCh37:
Chr17:17124923-17124924
GRCh38:
Chr17:17221609-17221610
FLCNS267fs, S285fsMultiple fibrofolliculomasPathogenic
(Apr 10, 2023)
criteria provided, single submitter
51.
GRCh37:
Chr17:17122365-17122366
GRCh38:
Chr17:17219051-17219052
FLCNP344fs, P362fsMultiple fibrofolliculomasPathogenic
(Apr 6, 2023)
criteria provided, single submitter
52.
GRCh37:
Chr17:17125936
GRCh38:
Chr17:17222622
FLCNQ220*, Q238*Hereditary cancer-predisposing syndromePathogenic
(Mar 29, 2023)
criteria provided, single submitter
53.
GRCh37:
Chr17:17127253
GRCh38:
Chr17:17223939
FLCNQ201*, Q219*not providedPathogenic
(Dec 16, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr17:17124808
GRCh38:
Chr17:17221494
FLCNP305LMultiple fibrofolliculomasUncertain significance
(Mar 30, 2023)
criteria provided, single submitter
55.
GRCh37:
Chr17:17119280-17119281
GRCh38:
Chr17:17215966-17215967
FLCNMultiple fibrofolliculomasPathogenic
(Aug 4, 2023)
no assertion criteria provided
56.
GRCh37:
Chr17:17119707-17119708
GRCh38:
Chr17:17216393-17216394
FLCNH429fs, H447fsMultiple fibrofolliculomasPathogenic
(Jan 18, 2023)
criteria provided, single submitter
57.
GRCh37:
Chr17:17125922-17125923
GRCh38:
Chr17:17222608-17222609
FLCNT224fs, T242fsMultiple fibrofolliculomasPathogenic
(Jan 11, 2023)
criteria provided, single submitter
58.
GRCh37:
Chr17:17127226-17127467
FLCNMultiple fibrofolliculomasPathogenic
(Sep 6, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr17:17118289-17140502
FLCNMultiple fibrofolliculomasUncertain significance
(Dec 29, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr17:17135108-17135196
FLCNMultiple fibrofolliculomasUncertain significance
(Feb 17, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr17:17116969-17120506
FLCNMultiple fibrofolliculomasPathogenic
(Jul 29, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr17:17120504-17120505
GRCh38:
Chr17:17217190-17217191
FLCNMultiple fibrofolliculomasLikely benign
(Jun 18, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr17:17129551
GRCh38:
Chr17:17226237
FLCNP112LMultiple fibrofolliculomasUncertain significance
(Jan 31, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr17:17122518
GRCh38:
Chr17:17219204
FLCNE293K, E311KMultiple fibrofolliculomasUncertain significance
(Apr 7, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr17:17129641
GRCh38:
Chr17:17226327
FLCNMultiple fibrofolliculomasLikely benign
(Oct 3, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr17:17131195
GRCh38:
Chr17:17227881
FLCNMultiple fibrofolliculomasLikely benign
(Feb 3, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr17:17127281
GRCh38:
Chr17:17223967
FLCNMultiple fibrofolliculomasLikely benign
(Jul 17, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr17:17127278
GRCh38:
Chr17:17223964
FLCNMultiple fibrofolliculomasLikely benign
(Mar 5, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr17:17131222
GRCh38:
Chr17:17227908
FLCNK77RMultiple fibrofolliculomasUncertain significance
(Oct 16, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr17:17118535
GRCh38:
Chr17:17215221
FLCNV466M, V484MMultiple fibrofolliculomasUncertain significance
(Oct 20, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr17:17131190
GRCh38:
Chr17:17227876
FLCNMultiple fibrofolliculomasLikely benign
(Oct 7, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr17:17127317
GRCh38:
Chr17:17224003
FLCNMultiple fibrofolliculomasLikely benign
(Jul 22, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr17:17122513
GRCh38:
Chr17:17219199
FLCNE312D, E294DMultiple fibrofolliculomasUncertain significance
(Mar 14, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr17:17120393
GRCh38:
Chr17:17217079
FLCNE389G, E407GMultiple fibrofolliculomasUncertain significance
(Sep 10, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr17:17124849
GRCh38:
Chr17:17221535
FLCNMultiple fibrofolliculomasLikely pathogenic
(May 24, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr17:17118410-17118411
GRCh38:
Chr17:17215096-17215097
FLCNMultiple fibrofolliculomasLikely benign
(Apr 27, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr17:17131237
GRCh38:
Chr17:17227923
FLCNS72NMultiple fibrofolliculomasUncertain significance
(Sep 23, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr17:17122500
GRCh38:
Chr17:17219186
FLCNW317G, W299GMultiple fibrofolliculomasUncertain significance
(May 18, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr17:17125808
GRCh38:
Chr17:17222494
FLCNMultiple fibrofolliculomasLikely benign
(Sep 9, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr17:17127303
GRCh38:
Chr17:17223989
FLCNN184S, N202SMultiple fibrofolliculomasUncertain significance
(Jun 7, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr17:17122462
GRCh38:
Chr17:17219148
FLCNMultiple fibrofolliculomasLikely benign
(Aug 23, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr17:17118527
GRCh38:
Chr17:17215213
FLCNMultiple fibrofolliculomasUncertain significance
(Jul 5, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr17:17118575
GRCh38:
Chr17:17215261
FLCNMultiple fibrofolliculomasLikely benign
(May 18, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr17:17118617
GRCh38:
Chr17:17215303
FLCNMultiple fibrofolliculomasUncertain significance
(Jun 22, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr17:17118415
GRCh38:
Chr17:17215101
FLCNMultiple fibrofolliculomasLikely benign
(Aug 21, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr17:17117018
GRCh38:
Chr17:17213704
FLCNH582P, H564PMultiple fibrofolliculomas, Hereditary cancer-predisposing syndromeUncertain significance
(Mar 5, 2023)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr17:17127231
GRCh38:
Chr17:17223917
FLCNMultiple fibrofolliculomasUncertain significance
(Jul 17, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr17:17118423
GRCh38:
Chr17:17215109
FLCNMultiple fibrofolliculomasLikely benign
(May 16, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr17:17129597
GRCh38:
Chr17:17226283
FLCNS97GMultiple fibrofolliculomasUncertain significance
(Jun 9, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr17:17120514
GRCh38:
Chr17:17217200
FLCNMultiple fibrofolliculomasLikely benign
(Aug 23, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr17:17127260
GRCh38:
Chr17:17223946
FLCNMultiple fibrofolliculomasLikely benign
(Nov 3, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr17:17118642
GRCh38:
Chr17:17215328
FLCNMultiple fibrofolliculomasLikely benign
(Aug 25, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr17:17122316
GRCh38:
Chr17:17219002
FLCNMultiple fibrofolliculomasLikely benign
(May 4, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr17:17119828
GRCh38:
Chr17:17216514
FLCNMultiple fibrofolliculomasLikely benign
(Sep 23, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr17:17127259
GRCh38:
Chr17:17223945
FLCNE199K, E217KMultiple fibrofolliculomas, Hereditary cancer-predisposing syndromeUncertain significance
(May 30, 2023)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr17:17122342
GRCh38:
Chr17:17219028
FLCNH369Q, H351QMultiple fibrofolliculomasUncertain significance
(Feb 24, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr17:17129634
GRCh38:
Chr17:17226320
FLCNC85fsMultiple fibrofolliculomas, not providedPathogenic
(Dec 12, 2022)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr17:17129563
GRCh38:
Chr17:17226249
FLCNS108IMultiple fibrofolliculomasUncertain significance
(May 13, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr17:17127460
GRCh38:
Chr17:17224146
FLCNMultiple fibrofolliculomasUncertain significance
(May 9, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr17:17124898
GRCh38:
Chr17:17221584
FLCNE293G, E275GMultiple fibrofolliculomasUncertain significance
(May 5, 2022)
criteria provided, single submitter
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