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Items: 1 to 100 of 1618

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
TSC2Tuberous sclerosis syndromenot providedno assertion provided
2.
TSC2Tuberous sclerosis syndromenot providedno assertion provided
3.
TSC2Tuberous sclerosis syndromenot providedno assertion provided
4.
TSC2Tuberous sclerosis syndromenot providedno assertion provided
5.
TSC2Tuberous sclerosis syndromenot providedno assertion provided
6.
TSC2Tuberous sclerosis syndromenot providedno assertion provided
7.
TSC2Tuberous sclerosis syndromenot providedno assertion provided
8.
GRCh37:
Chr16:2098619
GRCh38:
Chr16:2048618
TSC2Tuberous sclerosis syndromenot providedno assertion provided
9.
GRCh37:
Chr16:2098620
GRCh38:
Chr16:2048619
TSC2Tuberous sclerosis syndromenot providedno assertion provided
10.
GRCh37:
Chr16:2098629
GRCh38:
Chr16:2048628
TSC2Tuberous sclerosis syndromenot providedno assertion provided
11.
GRCh37:
Chr16:2098635
GRCh38:
Chr16:2048634
TSC2Tuberous sclerosis syndromenot providedno assertion provided
12.
GRCh37:
Chr16:2098636
GRCh38:
Chr16:2048635
TSC2Tuberous sclerosis 2, Tuberous sclerosis syndrome, not specified
Uncertain significance
(Jan 6, 2017)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr16:2098637
GRCh38:
Chr16:2048636
TSC2Tuberous sclerosis syndromenot providedno assertion provided
14.
GRCh37:
Chr16:2098642
GRCh38:
Chr16:2048641
TSC2Tuberous sclerosis syndromenot providedno assertion provided
15.
GRCh37:
Chr16:2098650
GRCh38:
Chr16:2048649
TSC2Tuberous sclerosis 2, Tuberous sclerosis syndromePathogenic
(Jan 1, 1996)
no assertion criteria provided
16.
GRCh37:
Chr16:2098661
GRCh38:
Chr16:2048660
TSC2Tuberous sclerosis syndromenot providedno assertion provided
17.
GRCh37:
Chr16:2098661-2098667
GRCh38:
Chr16:2048660-2048666
TSC2Tuberous sclerosis syndromenot providedno assertion provided
18.
GRCh37:
Chr16:2098719
GRCh38:
Chr16:2048718
TSC2Tuberous sclerosis syndromenot providedno assertion provided
19.
GRCh37:
Chr16:2098725
GRCh38:
Chr16:2048724
TSC2Tuberous sclerosis syndromenot providedno assertion provided
20.
GRCh37:
Chr16:2098730
GRCh38:
Chr16:2048729
TSC2Tuberous sclerosis syndromenot providedno assertion provided
21.
GRCh37:
Chr16:2098730
GRCh38:
Chr16:2048729
TSC2Tuberous sclerosis syndromenot providedno assertion provided
22.
GRCh37:
Chr16:2098731
GRCh38:
Chr16:2048730
TSC2Tuberous sclerosis syndromenot providedno assertion provided
23.
GRCh37:
Chr16:2098736
GRCh38:
Chr16:2048735
TSC2Tuberous sclerosis syndromenot providedno assertion provided
24.
GRCh37:
Chr16:2098749-2098752
GRCh38:
Chr16:2048748-2048751
TSC2Tuberous sclerosis syndrome, not providedPathogenic
(Apr 20, 2015)
criteria provided, single submitter
25.
GRCh37:
Chr16:2098752
GRCh38:
Chr16:2048751
TSC2Tuberous sclerosis syndromenot providedno assertion provided
26.
GRCh37:
Chr16:2098754-2098755
GRCh38:
Chr16:2048753-2048754
TSC2Tuberous sclerosis syndrome, not providedPathogenic
(Oct 31, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr16:2098755
GRCh38:
Chr16:2048754
TSC2Tuberous sclerosis syndromenot providedno assertion provided
28.
GRCh37:
Chr16:2098756-2098757
GRCh38:
Chr16:2048755-2048756
TSC2Tuberous sclerosis syndromenot providedno assertion provided
29.
GRCh37:
Chr16:2098756
GRCh38:
Chr16:2048755
TSC2Tuberous sclerosis syndromenot providedno assertion provided
30.
GRCh37:
Chr16:2098759
GRCh38:
Chr16:2048758
TSC2Tuberous sclerosis syndromenot providedno assertion provided
31.
GRCh37:
Chr16:2098774
GRCh38:
Chr16:2048773
TSC2Tuberous sclerosis syndrome, not specifiedBenign
(Feb 15, 2013)
criteria provided, single submitter
32.
GRCh37:
Chr16:2100401-2100402
GRCh38:
Chr16:2050400-2050401
TSC2Tuberous sclerosis syndromenot providedno assertion provided
33.
GRCh37:
Chr16:2100403
GRCh38:
Chr16:2050402
TSC2Tuberous sclerosis syndromenot providedno assertion provided
34.
GRCh37:
Chr16:2100432
GRCh38:
Chr16:2050431
TSC2Tuberous sclerosis 2, Tuberous sclerosis syndromeUncertain significance
(Apr 6, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr16:2100433
GRCh38:
Chr16:2050432
TSC2Tuberous sclerosis syndromenot providedno assertion provided
36.
GRCh37:
Chr16:2100447
GRCh38:
Chr16:2050446
TSC2Tuberous sclerosis syndromenot providedno assertion provided
37.
GRCh37:
Chr16:2100449
GRCh38:
Chr16:2050448
TSC2Tuberous sclerosis syndromenot providedno assertion provided
38.
GRCh37:
Chr16:2100449
GRCh38:
Chr16:2050448
TSC2Tuberous sclerosis syndromenot providedno assertion provided
39.
GRCh37:
Chr16:2100452
GRCh38:
Chr16:2050451
TSC2Autism spectrum disordersnot providedno assertion provided
40.
GRCh37:
Chr16:2100455
GRCh38:
Chr16:2050454
TSC2Tuberous sclerosis syndromenot providedno assertion provided
41.
GRCh37:
Chr16:2100458
GRCh38:
Chr16:2050457
TSC2Tuberous sclerosis syndromenot providedno assertion provided
42.
GRCh37:
Chr16:2100463
GRCh38:
Chr16:2050462
TSC2Tuberous sclerosis 2, Tuberous sclerosis syndromeLikely benign
(Apr 21, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr16:2100467
GRCh38:
Chr16:2050466
TSC2Tuberous sclerosis syndromenot providedno assertion provided
44.
GRCh37:
Chr16:2100486
GRCh38:
Chr16:2050485
TSC2Tuberous sclerosis syndromenot providedno assertion provided
45.
GRCh37:
Chr16:2100489
GRCh38:
Chr16:2050488
TSC2Tuberous sclerosis syndromenot providedno assertion provided
46.
GRCh37:
Chr16:2100518-2100519
GRCh38:
Chr16:2050517-2050518
TSC2Tuberous sclerosis syndromenot providedno assertion provided
47.
GRCh37:
Chr16:2103307-2103308
GRCh38:
Chr16:2053306-2053307
TSC2Tuberous sclerosis syndromenot providedno assertion provided
48.
GRCh37:
Chr16:2103311
GRCh38:
Chr16:2053310
TSC2Tuberous sclerosis syndromenot providedno assertion provided
49.
GRCh37:
Chr16:2103341
GRCh38:
Chr16:2053340
TSC2Tuberous sclerosis 2, Tuberous sclerosis syndromePathogenic
(Sep 3, 2013)
criteria provided, single submitter
50.
GRCh37:
Chr16:2103342
GRCh38:
Chr16:2053341
TSC2Tuberous sclerosis syndromenot providedno assertion provided
51.
GRCh37:
Chr16:2103345
GRCh38:
Chr16:2053344
TSC2Tuberous sclerosis 2, Tuberous sclerosis syndrome, not specified,
Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Jan 12, 2017)
criteria provided, conflicting interpretations
52.
GRCh37:
Chr16:2103356-2103366
GRCh38:
Chr16:2053355-2053365
TSC2Tuberous sclerosis syndromenot providedno assertion provided
53.
GRCh37:
Chr16:2103362
GRCh38:
Chr16:2053361
TSC2Tuberous sclerosis syndromenot providedno assertion provided
54.
GRCh37:
Chr16:2103368
GRCh38:
Chr16:2053367
TSC2Lymphangiomyomatosis, Tuberous sclerosis 2, Tuberous sclerosis syndrome,
not specified
Benign/Likely benign
(Jan 10, 2017)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr16:2103372
GRCh38:
Chr16:2053371
TSC2Tuberous sclerosis 2, Tuberous sclerosis syndrome, not specified,
Hereditary cancer-predisposing syndrome
Benign/Likely benign
(Jan 26, 2017)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr16:2103375
GRCh38:
Chr16:2053374
TSC2Tuberous sclerosis 2, Tuberous sclerosis syndrome, not specified
Benign/Likely benign
(Jan 12, 2017)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr16:2103375-2103400
GRCh38:
Chr16:2053374-2053399
TSC2Tuberous sclerosis syndromenot providedno assertion provided
58.
GRCh37:
Chr16:2103379
GRCh38:
Chr16:2053378
TSC2Tuberous sclerosis 2, Tuberous sclerosis syndrome, not specified
Benign
(Jan 23, 2017)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr16:2103385
GRCh38:
Chr16:2053384
TSC2Tuberous sclerosis syndrome, not provided, Hereditary cancer-predisposing syndrome
Pathogenic
(Oct 25, 2016)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr16:2103386-2103389
GRCh38:
Chr16:2053385-2053388
TSC2Tuberous sclerosis syndromenot providedno assertion provided
61.
GRCh37:
Chr16:2103389
GRCh38:
Chr16:2053388
TSC2Tuberous sclerosis 2, Tuberous sclerosis syndrome, not specified,
Hereditary cancer-predisposing syndrome
Benign/Likely benign
(Jan 30, 2017)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr16:2103391
GRCh38:
Chr16:2053390
TSC2Tuberous sclerosis syndromenot providedno assertion provided
63.
GRCh37:
Chr16:2103392
GRCh38:
Chr16:2053391
TSC2Tuberous sclerosis 2, Tuberous sclerosis syndrome, not specified,
Hereditary cancer-predisposing syndrome
Benign/Likely benign
(Jan 30, 2017)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr16:2103396
GRCh38:
Chr16:2053395
TSC2Tuberous sclerosis syndromenot providedno assertion provided
65.
GRCh37:
Chr16:2103397
GRCh38:
Chr16:2053396
TSC2Tuberous sclerosis syndromenot providedno assertion provided
66.
GRCh37:
Chr16:2103398
GRCh38:
Chr16:2053397
TSC2Tuberous sclerosis syndromenot providedno assertion provided
67.
GRCh37:
Chr16:2103409
GRCh38:
Chr16:2053408
TSC2Tuberous sclerosis 2, Tuberous sclerosis syndromeLikely benign
(Dec 8, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr16:2103414
GRCh38:
Chr16:2053413
TSC2Tuberous sclerosis syndromenot providedno assertion provided
69.
GRCh37:
Chr16:2103416-2103417
GRCh38:
Chr16:2053415-2053416
TSC2Tuberous sclerosis syndromenot providedno assertion provided
70.
GRCh37:
Chr16:2103417
GRCh38:
Chr16:2053416
TSC2Tuberous sclerosis 2, Tuberous sclerosis syndrome, not specified,
Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Dec 22, 2016)
criteria provided, conflicting interpretations
71.
GRCh37:
Chr16:2103424-2103432
GRCh38:
Chr16:2053423-2053431
TSC2Tuberous sclerosis syndromenot providedno assertion provided
72.
GRCh37:
Chr16:2103426
GRCh38:
Chr16:2053425
TSC2Tuberous sclerosis syndromenot providedno assertion provided
73.
GRCh37:
Chr16:2103447
GRCh38:
Chr16:2053446
TSC2Tuberous sclerosis syndromenot providedno assertion provided
74.
GRCh37:
Chr16:2103451
GRCh38:
Chr16:2053450
TSC2Tuberous sclerosis syndromenot providedno assertion provided
75.
GRCh37:
Chr16:2103454-2103455
GRCh38:
Chr16:2053453-2053454
TSC2Tuberous sclerosis syndromenot providedno assertion provided
76.
GRCh37:
Chr16:2103454
GRCh38:
Chr16:2053453
TSC2Tuberous sclerosis 2, Tuberous sclerosis syndromePathogenic
(Aug 23, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr16:2103455
GRCh38:
Chr16:2053454
TSC2Tuberous sclerosis syndromenot providedno assertion provided
78.
GRCh37:
Chr16:2103483
GRCh38:
Chr16:2053482
TSC2Tuberous sclerosis syndromenot providedno assertion provided
79.
GRCh37:
Chr16:2103485
GRCh38:
Chr16:2053484
TSC2Tuberous sclerosis syndrome, not specifiednot provided
(Sep 19, 2013)
no assertion provided
80.
GRCh37:
Chr16:2103486
GRCh38:
Chr16:2053485
TSC2Tuberous sclerosis syndrome, not specifiedBenigncriteria provided, single submitter
81.
GRCh37:
Chr16:2103514
GRCh38:
Chr16:2053513
TSC2Tuberous sclerosis syndromenot providedno assertion provided
82.
GRCh37:
Chr16:2104295
GRCh38:
Chr16:2054294
TSC2Tuberous sclerosis syndromenot providedno assertion provided
83.
GRCh37:
Chr16:2104295
GRCh38:
Chr16:2054294
TSC2Tuberous sclerosis syndromenot providedno assertion provided
84.
GRCh37:
Chr16:2104296
GRCh38:
Chr16:2054295
TSC2Tuberous sclerosis syndromenot providedno assertion provided
85.
GRCh37:
Chr16:2104296
GRCh38:
Chr16:2054295
TSC2Tuberous sclerosis syndromenot providedno assertion provided
86.
GRCh37:
Chr16:2104299
GRCh38:
Chr16:2054298
TSC2Tuberous sclerosis syndromenot providedno assertion provided
87.
GRCh37:
Chr16:2104300
GRCh38:
Chr16:2054299
TSC2Tuberous sclerosis 2, Tuberous sclerosis syndromeUncertain significance
(Mar 17, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr16:2104300
GRCh38:
Chr16:2054299
TSC2Tuberous sclerosis syndromenot providedno assertion provided
89.
GRCh37:
Chr16:2104303
GRCh38:
Chr16:2054302
TSC2Tuberous sclerosis syndromenot providedno assertion provided
90.
GRCh37:
Chr16:2104312
GRCh38:
Chr16:2054311
TSC2Tuberous sclerosis syndrome, not providedPathogenic
(Dec 16, 2014)
criteria provided, single submitter
91.
GRCh37:
Chr16:2104317
GRCh38:
Chr16:2054316
TSC2Tuberous sclerosis syndromenot providedno assertion provided
92.
GRCh37:
Chr16:2104323
GRCh38:
Chr16:2054322
TSC2Tuberous sclerosis 2, Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
Likely benign
(Oct 8, 2016)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr16:2104345
GRCh38:
Chr16:2054344
TSC2Tuberous sclerosis syndromenot providedno assertion provided
94.
GRCh37:
Chr16:2104348
GRCh38:
Chr16:2054347
TSC2Tuberous sclerosis syndromenot providedno assertion provided
95.
GRCh37:
Chr16:2104355-2104356
GRCh38:
Chr16:2054354-2054355
TSC2Tuberous sclerosis syndromenot providedno assertion provided
96.
GRCh37:
Chr16:2104355
GRCh38:
Chr16:2054354
TSC2Tuberous sclerosis 2, Tuberous sclerosis syndrome, not specified
Likely benign
(Nov 21, 2016)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr16:2104363
GRCh38:
Chr16:2054362
TSC2Tuberous sclerosis syndromenot providedno assertion provided
98.
GRCh37:
Chr16:2104364-2104367
GRCh38:
Chr16:2054363-2054366
TSC2Tuberous sclerosis syndromenot providedno assertion provided
99.
GRCh37:
Chr16:2104370
GRCh38:
Chr16:2054369
TSC2Tuberous sclerosis syndromenot providedno assertion provided
100.
GRCh37:
Chr16:2104375
GRCh38:
Chr16:2054374
TSC2Tuberous sclerosis syndromenot providedno assertion provided
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