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Links from MedGen

Items: 1 to 100 of 111

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:48690434
GRCh38:
Chr3:48653001
CELSR3Tourette syndromeUncertain significance
(Apr 20, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr3:48679343
GRCh38:
Chr3:48641910
CELSR3R2922HTourette syndromeLikely risk allele
(Sep 25, 2018)
no assertion criteria provided
3.
GRCh37:
Chr3:48682587
GRCh38:
Chr3:48645154
CELSR3A2618VTourette syndromeLikely risk allele
(Sep 25, 2018)
no assertion criteria provided
4.
GRCh37:
Chr13:84455302
GRCh38:
Chr13:83881167
SLITRK1N114STourette syndromeUncertain significance
(Dec 29, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr15:50534878
GRCh38:
Chr15:50242681
HDCI490N, I523NTourette syndromeUncertain significance
(Sep 28, 2020)
criteria provided, single submitter
6.
GRCh37:
Chr3:48697654
GRCh38:
Chr3:48660221
CELSR3S805Tnot providedBenign
(Jan 22, 2019)
criteria provided, single submitter
7.
GRCh37:
Chr15:50534935
GRCh38:
Chr15:50242738
HDCT471K, T504KTourette syndromeUncertain significance
(Jan 9, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr13:84456126
GRCh38:
Chr13:83881991
SLITRK1Tourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr13:84455991
GRCh38:
Chr13:83881856
SLITRK1Tourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr13:84455986
GRCh38:
Chr13:83881851
SLITRK1Tourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr13:84455912
GRCh38:
Chr13:83881777
SLITRK1Tourette syndromeLikely benign
(Jan 12, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr13:84453633
GRCh38:
Chr13:83879498
SLITRK1Tourette syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr13:84453522
GRCh38:
Chr13:83879387
SLITRK1Tourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr13:84453513
GRCh38:
Chr13:83879378
SLITRK1Tourette syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr13:84453454
GRCh38:
Chr13:83879319
SLITRK1Tourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr13:84452317
GRCh38:
Chr13:83878182
SLITRK1Tourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr13:84452260
GRCh38:
Chr13:83878125
SLITRK1Tourette syndromeUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
18.
GRCh37:
Chr13:84455622
GRCh38:
Chr13:83881487
SLITRK1L7FTourette syndromeUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
19.
GRCh37:
Chr13:84455448
GRCh38:
Chr13:83881313
SLITRK1Tourette syndromeUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
20.
GRCh37:
Chr13:84455178
GRCh38:
Chr13:83881043
SLITRK1Tourette syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr13:84453292
GRCh38:
Chr13:83879157
SLITRK1Tourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr13:84453270
GRCh38:
Chr13:83879135
SLITRK1Tourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr13:84453081
GRCh38:
Chr13:83878946
SLITRK1Tourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr13:84451886
GRCh38:
Chr13:83877751
SLITRK1Tourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr13:84451834
GRCh38:
Chr13:83877699
SLITRK1Tourette syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr13:84451830
GRCh38:
Chr13:83877695
SLITRK1Tourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr13:84451814
GRCh38:
Chr13:83877679
SLITRK1Tourette syndromeUncertain significance
(Jan 15, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr13:84451810
GRCh38:
Chr13:83877675
SLITRK1Tourette syndromeUncertain significance
(Apr 20, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr13:84451767
GRCh38:
Chr13:83877632
SLITRK1Tourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr13:84454615
GRCh38:
Chr13:83880480
SLITRK1G343ETourette syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr13:84454514
GRCh38:
Chr13:83880379
SLITRK1V377MTourette syndromeUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
32.
GRCh37:
Chr13:84454238
GRCh38:
Chr13:83880103
SLITRK1A469TTourette syndrome, Inborn genetic diseasesUncertain significance
(Jul 13, 2021)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr13:84452803
GRCh38:
Chr13:83878668
SLITRK1Tourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr13:84452709
GRCh38:
Chr13:83878574
SLITRK1Tourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr13:84452687
GRCh38:
Chr13:83878552
SLITRK1Tourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr13:84451589
GRCh38:
Chr13:83877454
SLITRK1Tourette syndromeLikely benign
(Jan 12, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr13:84451464
GRCh38:
Chr13:83877329
SLITRK1Tourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr13:84456476
GRCh38:
Chr13:83882341
SLITRK1Tourette syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr13:84456460
GRCh38:
Chr13:83882325
SLITRK1Tourette syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr13:84453992
GRCh38:
Chr13:83879857
SLITRK1V551MTourette syndrome, Inborn genetic diseasesUncertain significance
(Apr 18, 2023)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr13:84453892
GRCh38:
Chr13:83879757
SLITRK1R584KTourette syndromeUncertain significance
(Apr 28, 2017)
criteria provided, single submitter
42.
GRCh37:
Chr13:84453726
GRCh38:
Chr13:83879591
SLITRK1Tourette syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr13:84453689
GRCh38:
Chr13:83879554
SLITRK1Tourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr13:84452664
GRCh38:
Chr13:83878529
SLITRK1Tourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr13:84452622
GRCh38:
Chr13:83878487
SLITRK1Tourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr13:84452460
GRCh38:
Chr13:83878325
SLITRK1Tourette syndromeUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
47.
GRCh37:
Chr13:84452455
GRCh38:
Chr13:83878320
SLITRK1Tourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr13:84451345
GRCh38:
Chr13:83877210
SLITRK1Tourette syndromeUncertain significance
(Feb 16, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr13:84453672
GRCh38:
Chr13:83879537
SLITRK1not provided, Tourette syndromeConflicting interpretations of pathogenicity
(Jan 24, 2018)
criteria provided, conflicting interpretations
50.
GRCh37:
Chr13:84455205
GRCh38:
Chr13:83881070
SLITRK1D146Enot provided, Tourette syndromeConflicting interpretations of pathogenicity
(Jun 22, 2018)
criteria provided, conflicting interpretations
51.
GRCh37:
Chr13:84454655
GRCh38:
Chr13:83880520
SLITRK1S330Anot provided, Tourette syndromeBenign/Likely benign
(Jun 8, 2018)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr12:23893839
GRCh38:
Chr12:23740905
SOX5R235C, R200C, R222C, R225CTourette syndromeUncertain significance
(Aug 5, 2019)
no assertion criteria provided
53.
GRCh37:
Chr13:84456495
GRCh38:
Chr13:83882360
SLITRK1Tourette syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr13:84456385-84456386
GRCh38:
Chr13:83882250-83882251
SLITRK1Tourette syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr13:84456371
GRCh38:
Chr13:83882236
SLITRK1Tourette syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr13:84456339
GRCh38:
Chr13:83882204
SLITRK1Tourette syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr13:84456338
GRCh38:
Chr13:83882203
SLITRK1Tourette syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr13:84456296
GRCh38:
Chr13:83882161
SLITRK1Tourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr13:84456233
GRCh38:
Chr13:83882098
SLITRK1Tourette syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr13:84456231
GRCh38:
Chr13:83882096
SLITRK1Tourette syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr13:84456226
GRCh38:
Chr13:83882091
SLITRK1Tourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr13:84456193
GRCh38:
Chr13:83882058
SLITRK1Tourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr13:84456178
GRCh38:
Chr13:83882043
SLITRK1Tourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr13:84456173
GRCh38:
Chr13:83882038
SLITRK1Tourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr13:84455920
GRCh38:
Chr13:83881785
SLITRK1Tourette syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr13:84455912
GRCh38:
Chr13:83881777
SLITRK1Tourette syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr13:84455908
GRCh38:
Chr13:83881773
SLITRK1Tourette syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr13:84455886-84455887
GRCh38:
Chr13:83881751-83881752
SLITRK1Tourette syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr13:84455886
GRCh38:
Chr13:83881751
SLITRK1Tourette syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr13:84455882-84455883
GRCh38:
Chr13:83881747-83881748
SLITRK1Tourette syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr13:84455882-84455883
GRCh38:
Chr13:83881747-83881748
SLITRK1Tourette syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr13:84455882
GRCh38:
Chr13:83881747
SLITRK1Tourette syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr13:84455881-84455882
GRCh38:
Chr13:83881746-83881747
SLITRK1Tourette syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr13:84455820
GRCh38:
Chr13:83881685
SLITRK1Tourette syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr13:84455712
GRCh38:
Chr13:83881577
SLITRK1Tourette syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr13:84455526
GRCh38:
Chr13:83881391
SLITRK1Tourette syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr13:84455349
GRCh38:
Chr13:83881214
SLITRK1Tourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr13:84454730
GRCh38:
Chr13:83880595
SLITRK1P305ATourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr13:84454549
GRCh38:
Chr13:83880414
SLITRK1S365NTourette syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr13:84454521
GRCh38:
Chr13:83880386
SLITRK1Tourette syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
81.
GRCh37:
Chr13:84454151
GRCh38:
Chr13:83880016
SLITRK1K498ETourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
82.
GRCh37:
Chr13:84454105
GRCh38:
Chr13:83879970
SLITRK1G513ETourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr13:84453674
GRCh38:
Chr13:83879539
SLITRK1S657PTourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr13:84453608
GRCh38:
Chr13:83879473
SLITRK1N679HTourette syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr13:84453529
GRCh38:
Chr13:83879394
SLITRK1Tourette syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr13:84453485
GRCh38:
Chr13:83879350
SLITRK1Tourette syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr13:84453385
GRCh38:
Chr13:83879250
SLITRK1Tourette syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr13:84453322
GRCh38:
Chr13:83879187
SLITRK1Tourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr13:84453008
GRCh38:
Chr13:83878873
SLITRK1Tourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr13:84452977
GRCh38:
Chr13:83878842
SLITRK1Tourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr13:84452903
GRCh38:
Chr13:83878768
SLITRK1Tourette syndromeLikely benign
(Jan 13, 2018)
criteria provided, single submitter
92.
GRCh37:
Chr13:84452791
GRCh38:
Chr13:83878656
SLITRK1Tourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
93.
GRCh37:
Chr13:84452751
GRCh38:
Chr13:83878616
SLITRK1Tourette syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr13:84452684-84452688
GRCh38:
Chr13:83878549-83878553
SLITRK1Tourette syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr13:84452535
GRCh38:
Chr13:83878400
SLITRK1Tourette syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr13:84452522
GRCh38:
Chr13:83878387
SLITRK1Tourette syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
97.
GRCh37:
Chr13:84452418
GRCh38:
Chr13:83878283
SLITRK1Tourette syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
98.
GRCh37:
Chr13:84452402-84452403
GRCh38:
Chr13:83878267-83878268
SLITRK1Tourette syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
99.
GRCh37:
Chr13:84452392
GRCh38:
Chr13:83878257
SLITRK1Tourette syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr13:84452239
GRCh38:
Chr13:83878104
SLITRK1Tourette syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
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