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Items: 1 to 100 of 1275

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr17:10795576-17867596
GRCh38:
Chr17:10892259-17964282
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058693
2.
GRCh37:
Chr17:14970116-17375771
GRCh38:
Chr17:15066799-17472457
See casesPathogenic
(Sep 21, 2012)
no assertion criteria providedVCV000154979
3.
GRCh37:
Chr17:15113717-18184130
GRCh38:
Chr17:15210400-18280816
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000148088
4.
GRCh37:
Chr17:15138002-20524013
GRCh38:
Chr17:15234685-20620700
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058104
5.
GRCh37:
Chr17:15162481-20828612
GRCh38:
Chr17:15259164-20925299
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058107
6.
GRCh37:
Chr17:15455676-18917513
GRCh38:
Chr17:15552362-19014200
See casesPathogenic
(Nov 5, 2013)
no assertion criteria providedVCV000153990
7.
GRCh37:
Chr17:15633207-20413564
GRCh38:
Chr17:15729893-20510251
See casesPathogenic
(Jun 25, 2013)
no assertion criteria providedVCV000155418
8.
GRCh37:
Chr17:15680229-18675066
GRCh38:
Chr17:15776915-18771753
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000056996
9.
GRCh37:
Chr17:15754173-20552548
GRCh38:
Chr17:15850859-20649235
See casesPathogenic
(Oct 22, 2013)
no assertion criteria providedVCV000155583
10.
GRCh37:
Chr17:15786351-20561331
GRCh38:
Chr17:15883037-20658018
See casesPathogenic
(Dec 10, 2012)
no assertion criteria providedVCV000155110
11.
GRCh37:
Chr17:15786351-20524013
GRCh38:
Chr17:15883037-20620700
See casesPathogenic
(Jun 20, 2011)
no assertion criteria providedVCV000150691
12.
GRCh37:
Chr17:15801146-20524154
GRCh38:
Chr17:15897832-20620841
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058108
13.
GRCh37:
Chr17:15801346-20524013
GRCh38:
Chr17:15898032-20620700
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057018
14.
GRCh37:
Chr17:15855385-18266133
GRCh38:
Chr17:15952071-18362819
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000060429
15.
GRCh37:
Chr17:15963443-20524154
GRCh38:
Chr17:16060129-20620841
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000060430
16.
GRCh37:
Chr17:16021199-18266133
GRCh38:
Chr17:16117885-18362819
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000060433
17.
GRCh37:
Chr17:16329947-20901901
GRCh38:
Chr17:16426633-20998588
See casesPathogenic
(Mar 10, 2014)
no assertion criteria providedVCV000155648
18.
GRCh37:
Chr17:16559476-20294010
GRCh38:
Chr17:16656162-20390697
See casesPathogenic
(Sep 21, 2012)
no assertion criteria providedVCV000150743
19.
GRCh37:
Chr17:16559482-20294038
GRCh38:
Chr17:16656168-20390725
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058110
20.
GRCh37:
Chr17:16595776-20294038
GRCh38:
Chr17:16692462-20390725
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058113
21.
GRCh37:
Chr17:16600022-20396173
GRCh38:
Chr17:16696708-20492860
See casesPathogenic
(Mar 24, 2014)
no assertion criteria providedVCV000155314
22.
GRCh37:
Chr17:16603008-20433959
GRCh38:
Chr17:16699694-20530646
See casesPathogenic
(Apr 30, 2011)
no assertion criteria providedVCV000151506
23.
GRCh37:
Chr17:16603130-20331605
GRCh38:
Chr17:16699816-20428292
See casesPathogenic
(Jan 9, 2013)
no assertion criteria providedVCV000155114
24.
GRCh37:
Chr17:16603130-20395527
GRCh38:
Chr17:16699816-20492214
See casesPathogenic
(Apr 4, 2013)
no assertion criteria providedVCV000152261
25.
GRCh37:
Chr17:16603130-20294038
GRCh38:
Chr17:16699816-20390725
See casesPathogenic
(Nov 21, 2011)
no assertion criteria providedVCV000148912
26.
GRCh37:
Chr17:16616828-20485840
GRCh38:
Chr17:16713514-20582527
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058115
27.
GRCh37:
Chr17:16616829-20243755
GRCh38:
Chr17:16713515-20340442
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058126
28.
GRCh37:
Chr17:16621729-20449523
GRCh38:
Chr17:16718415-20546210
See casesPathogenic
(May 7, 2013)
no assertion criteria providedVCV000155350
29.
GRCh37:
Chr17:16637872-20294010
GRCh38:
Chr17:16734558-20390697
See casesPathogenic
(Oct 30, 2010)
no assertion criteria providedVCV000146755
30.
GRCh37:
Chr17:16637872-20294010
GRCh38:
Chr17:16734558-20390697
See casesPathogenic
(Sep 21, 2012)
no assertion criteria providedVCV000146754
31.
GRCh37:
Chr17:16637902-18738016
GRCh38:
Chr17:16734588-18834703
See casesPathogenic
(Sep 17, 2012)
no assertion criteria providedVCV000154919
32.
GRCh37:
Chr17:16637902-20219464
GRCh38:
Chr17:16734588-20316151
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000147821
33.
GRCh37:
Chr17:16637902-20294038
GRCh38:
Chr17:16734588-20390725
See casesPathogenic
(Dec 19, 2014)
no assertion criteria providedVCV000147756
34.
GRCh37:
Chr17:16637902-18236686
GRCh38:
Chr17:16734588-18333372
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000146492
35.
GRCh37:
Chr17:16664131-20333083
GRCh38:
Chr17:16760817-20429770
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058127
36.
GRCh37:
Chr17:16664132-20294038
GRCh38:
Chr17:16760818-20390725
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000060437
37.
GRCh37:
Chr17:16664132-20408162
GRCh38:
Chr17:16760818-20504849
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058128
38.
GRCh38:
Chr17:16770855-20585863
Autistic disorderPathogenic
(Mar 20, 2018)
criteria provided, single submitterVCV000545218
39.
GRCh38:
Chr17:16770855-20422847
Autistic disorderPathogenic
(Mar 20, 2018)
criteria provided, single submitterVCV000545217
40.
GRCh37:
Chr17:16720871-18266133
GRCh38:
Chr17:16817557-18362819
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000060439
41.
GRCh37:
Chr17:16740141-20368380
GRCh38:
Chr17:16836827-20465067
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000060455
42.
GRCh37:
Chr17:16740141-20408162
GRCh38:
Chr17:16836827-20504849
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058132
43.
GRCh37:
Chr17:16740141-20243755
GRCh38:
Chr17:16836827-20340442
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058131
44.
GRCh37:
Chr17:16741411-20339728
GRCh38:
Chr17:16838097-20436415
See casesPathogenic
(Aug 5, 2013)
no assertion criteria providedVCV000153671
45.
GRCh37:
Chr17:16756434-20339795
GRCh38:
Chr17:16853120-20436482
See casesPathogenic
(Sep 18, 2013)
no assertion criteria providedVCV000155529
46.
GRCh37:
Chr17:16757564-20463361
GRCh38:
Chr17:16854250-20560048
See casesPathogenic
(Aug 2, 2012)
no assertion criteria providedVCV000150319
47.
GRCh37:
Chr17:16757564-20395527
GRCh38:
Chr17:16854250-20492214
See casesPathogenic
(Mar 26, 2012)
no assertion criteria providedVCV000149203
48.
GRCh37:
Chr17:16757564-20395482
GRCh38:
Chr17:16854250-20492169
See casesPathogenic
(Nov 30, 2010)
no assertion criteria providedVCV000145065
49.
GRCh37:
Chr17:16761758-20368380
GRCh38:
Chr17:16858444-20465067
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000060457
50.
GRCh37:
Chr17:16761758-20243755
GRCh38:
Chr17:16858444-20340442
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000060456
51.
GRCh37:
Chr17:16761814-20462650
GRCh38:
Chr17:16858500-20559337
See casesPathogenic
(Mar 4, 2013)
no assertion criteria providedVCV000155143
52.
GRCh37:
Chr17:16761814-20474268
GRCh38:
Chr17:16858500-20570955
See casesPathogenic
(Sep 23, 2013)
no assertion criteria providedVCV000153822
53.
GRCh37:
Chr17:16782546-20219464
GRCh38:
Chr17:16879232-20316151
See casesPathogenic
(May 27, 2010)
no assertion criteria providedVCV000144213
54.
GRCh37:
Chr17:16782546-18874254
GRCh38:
Chr17:16879232-18970941
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057224
55.
GRCh37:
Chr17:16782546-20294038
GRCh38:
Chr17:16879232-20390725
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057035
56.
GRCh37:
Chr17:16782546-20294038
GRCh38:
Chr17:16879232-20390725
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057034
57.
GRCh37:
Chr17:16782547-20294010
GRCh38:
Chr17:16879233-20390697
See casesPathogenic
(Oct 30, 2010)
no assertion criteria providedVCV000146753
58.
GRCh37:
Chr17:16822683-20193169
GRCh38:
Chr17:16919369-20289856
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058134
59.
GRCh37:
Chr17:16892401-20274129
GRCh38:
Chr17:16989087-20370816
See casesPathogenic
(Jul 9, 2012)
no assertion criteria providedVCV000150379
60.
GRCh37:
Chr17:16922265-20051943
GRCh38:
Chr17:17018951-20148630
See casesPathogenic
(Apr 30, 2011)
no assertion criteria providedVCV000152568
61.
GRCh37:
Chr17:16971147-18922732
GRCh38:
Chr17:17067833-19019419
See casesPathogenic
(Jul 18, 2014)
no assertion criteria providedVCV000153282
62.
GRCh37:
Chr17:17053390-17189875
GRCh38:
Chr17:17150076-17286561
COPS3, MPRIP, FLCN, PLD6See casesUncertain significance
(Nov 30, 2010)
no assertion criteria providedVCV000152769
63.
GRCh37:
Chr17:17053390-18319073
GRCh38:
Chr17:17150076-18415759
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000060458
64.
GRCh37:
Chr17:17115566
GRCh38:
Chr17:17212252
FLCNMultiple fibrofolliculomas, Pneumothorax, primary spontaneousBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000322033
65.
GRCh37:
Chr17:17115633
GRCh38:
Chr17:17212319
FLCNMultiple fibrofolliculomas, Pneumothorax, primary spontaneousBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000322034
66.
GRCh37:
Chr17:17115696
GRCh38:
Chr17:17212382
FLCNMultiple fibrofolliculomas, Pneumothorax, primary spontaneousUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000322035
67.
GRCh37:
Chr17:17115786-17115787
GRCh38:
Chr17:17212472-17212473
FLCNMultiple fibrofolliculomas, Spontaneous pneumothoraxBenign
(Jun 14, 2016)
criteria provided, single submitterVCV000322036
68.
GRCh37:
Chr17:17115789-17115790
GRCh38:
Chr17:17212475-17212476
FLCNMultiple fibrofolliculomas, Spontaneous pneumothoraxUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000322037
69.
GRCh37:
Chr17:17115790
GRCh38:
Chr17:17212476
FLCNPneumothorax, primary spontaneous, Multiple fibrofolliculomasUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000322038
70.
GRCh37:
Chr17:17115868
GRCh38:
Chr17:17212554
FLCNMultiple fibrofolliculomas, Pneumothorax, primary spontaneousUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000889505
71.
GRCh37:
Chr17:17115934
GRCh38:
Chr17:17212620
FLCNMultiple fibrofolliculomas, Pneumothorax, primary spontaneousUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000889506
72.
GRCh37:
Chr17:17116002
GRCh38:
Chr17:17212688
FLCNMultiple fibrofolliculomas, Pneumothorax, primary spontaneousUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000322039
73.
GRCh37:
Chr17:17116013
GRCh38:
Chr17:17212699
FLCNMultiple fibrofolliculomas, Pneumothorax, primary spontaneousBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000322040
74.
GRCh37:
Chr17:17116054
GRCh38:
Chr17:17212740
FLCNMultiple fibrofolliculomas, Pneumothorax, primary spontaneousUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000890168
75.
GRCh37:
Chr17:17116055
GRCh38:
Chr17:17212741
FLCNMultiple fibrofolliculomas, Pneumothorax, primary spontaneousBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000322041
76.
GRCh37:
Chr17:17116058
GRCh38:
Chr17:17212744
FLCNMultiple fibrofolliculomas, Pneumothorax, primary spontaneousBenign/Likely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000322042
77.
GRCh37:
Chr17:17116082
GRCh38:
Chr17:17212768
FLCNMultiple fibrofolliculomas, Pneumothorax, primary spontaneousUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000322043
78.
GRCh37:
Chr17:17116123
GRCh38:
Chr17:17212809
FLCNMultiple fibrofolliculomas, Pneumothorax, primary spontaneousUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000890749
79.
GRCh37:
Chr17:17116230
GRCh38:
Chr17:17212916
FLCNMultiple fibrofolliculomas, Pneumothorax, primary spontaneousUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000322044
80.
GRCh37:
Chr17:17116273-17116274
GRCh38:
Chr17:17212959-17212960
FLCNMultiple fibrofolliculomas, Spontaneous pneumothoraxUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000322045
81.
GRCh37:
Chr17:17116274
GRCh38:
Chr17:17212960
FLCNMultiple fibrofolliculomas, Pneumothorax, primary spontaneousUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000322046
82.
GRCh37:
Chr17:17116335
GRCh38:
Chr17:17213021
FLCNPneumothorax, primary spontaneous, Multiple fibrofolliculomasUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000322047
83.
GRCh37:
Chr17:17116412
GRCh38:
Chr17:17213098
FLCNMultiple fibrofolliculomas, Pneumothorax, primary spontaneous, not provided
Benign
(May 12, 2021)
criteria provided, multiple submitters, no conflictsVCV000322048
84.
GRCh37:
Chr17:17116441
GRCh38:
Chr17:17213127
FLCNPneumothorax, primary spontaneous, Multiple fibrofolliculomasConflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000322049
85.
GRCh37:
Chr17:17116443
GRCh38:
Chr17:17213129
FLCNMultiple fibrofolliculomas, Pneumothorax, primary spontaneousBenign/Likely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000322050
86.
GRCh37:
Chr17:17116527
GRCh38:
Chr17:17213213
FLCNPneumothorax, primary spontaneous, not provided, Multiple fibrofolliculomas
Benign/Likely benign
(May 12, 2021)
criteria provided, multiple submitters, no conflictsVCV000322051
87.
GRCh37:
Chr17:17116544
GRCh38:
Chr17:17213230
FLCNMultiple fibrofolliculomas, Pneumothorax, primary spontaneous, not provided
Benign
(May 12, 2021)
criteria provided, multiple submitters, no conflictsVCV000322052
88.
GRCh37:
Chr17:17116576
GRCh38:
Chr17:17213262
FLCNnot provided, Multiple fibrofolliculomas, Pneumothorax, primary spontaneous
Benign/Likely benign
(May 11, 2021)
criteria provided, multiple submitters, no conflictsVCV000322053
89.
GRCh37:
Chr17:17116590
GRCh38:
Chr17:17213276
FLCNPneumothorax, primary spontaneous, Multiple fibrofolliculomasConflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000322054
90.
GRCh37:
Chr17:17116613
GRCh38:
Chr17:17213299
FLCNMultiple fibrofolliculomas, Pneumothorax, primary spontaneous, not provided
Benign
(May 12, 2021)
criteria provided, multiple submitters, no conflictsVCV000322055
91.
GRCh37:
Chr17:17116629
GRCh38:
Chr17:17213315
FLCNMultiple fibrofolliculomas, Pneumothorax, primary spontaneousUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000322056
92.
GRCh37:
Chr17:17116630
GRCh38:
Chr17:17213316
FLCNMultiple fibrofolliculomas, Pneumothorax, primary spontaneousUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000890789
93.
GRCh37:
Chr17:17116636
GRCh38:
Chr17:17213322
FLCNPneumothorax, primary spontaneous, Multiple fibrofolliculomasUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000322057
94.
GRCh37:
Chr17:17116679
GRCh38:
Chr17:17213365
FLCNMultiple fibrofolliculomas, Pneumothorax, primary spontaneousUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000322058
95.
GRCh37:
Chr17:17116745
GRCh38:
Chr17:17213431
FLCNMultiple fibrofolliculomas, Pneumothorax, primary spontaneousUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000322059
96.
GRCh37:
Chr17:17116746
GRCh38:
Chr17:17213432
FLCNnot providedLikely benign
(Nov 24, 2020)
criteria provided, single submitterVCV001209300
97.
GRCh37:
Chr17:17116791
GRCh38:
Chr17:17213477
FLCNMultiple fibrofolliculomas, Pneumothorax, primary spontaneousUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000892027
98.
GRCh37:
Chr17:17116791
GRCh38:
Chr17:17213477
FLCNMultiple fibrofolliculomas, Pneumothorax, primary spontaneousConflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000322060
99.
GRCh37:
Chr17:17116829
GRCh38:
Chr17:17213515
FLCNMultiple fibrofolliculomas, Pneumothorax, primary spontaneousUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000892028
100.
GRCh37:
Chr17:17116940
GRCh38:
Chr17:17213626
FLCNMultiple fibrofolliculomas, Pneumothorax, primary spontaneousUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000892029