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Items: 1 to 100 of 172

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
FGD4Charcot-Marie-Tooth disease, type 4HPathogenic
(Jul 1, 2007)
no assertion criteria provided
2.
FGD4Charcot-Marie-Tooth disease, type 4HPathogenic
(Jul 1, 2007)
no assertion criteria provided
3.
GRCh37:
Chr12:32655034
GRCh38:
Chr12:32502100
FGD4Charcot-Marie-Tooth, Type 4Likely benign
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr12:32655071
GRCh38:
Chr12:32502137
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr12:32655085
GRCh38:
Chr12:32502151
FGD4Charcot-Marie-Tooth, Type 4Likely benign
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr12:32655097
GRCh38:
Chr12:32502163
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr12:32655148
GRCh38:
Chr12:32502214
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr12:32655229
GRCh38:
Chr12:32502295
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr12:32655272
GRCh38:
Chr12:32502338
FGD4Charcot-Marie-Tooth, Type 4Likely benign
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr12:32655281
GRCh38:
Chr12:32502347
FGD4not specified, Charcot-Marie-Tooth, Type 4Conflicting interpretations of pathogenicity
(Jul 25, 2016)
criteria provided, conflicting interpretations
11.
GRCh37:
Chr12:32717080
GRCh38:
Chr12:32564146
FGD4not specifiedLikely benign
(Jan 6, 2017)
criteria provided, single submitter
12.
GRCh37:
Chr12:32717172
GRCh38:
Chr12:32564238
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr12:32717224
GRCh38:
Chr12:32564290
FGD4not specifiedUncertain significance
(Dec 5, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr12:32729256
GRCh38:
Chr12:32576322
FGD4not specified, Charcot-Marie-Tooth, Type 4Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
15.
GRCh37:
Chr12:32729341
GRCh38:
Chr12:32576407
FGD4not specifiedUncertain significance
(Dec 3, 2015)
criteria provided, single submitter
16.
GRCh37:
Chr12:32735037
GRCh38:
Chr12:32582103
FGD4Charcot-Marie-Tooth disease, type IVLikely benign
(Sep 20, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr12:32735056
GRCh38:
Chr12:32582122
FGD4Charcot-Marie-Tooth disease, type IV, not specified, Charcot-Marie-Tooth, Type 4
Conflicting interpretations of pathogenicity
(Dec 19, 2016)
criteria provided, conflicting interpretations
18.
GRCh37:
Chr12:32735111
GRCh38:
Chr12:32582177
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr12:32735130
GRCh38:
Chr12:32582196
FGD4not specifiedUncertain significance
(Mar 30, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr12:32735182
GRCh38:
Chr12:32582248
FGD4not specifiedUncertain significance
(Aug 5, 2015)
criteria provided, single submitter
21.
GRCh37:
Chr12:32735199
GRCh38:
Chr12:32582265
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr12:32735236
GRCh38:
Chr12:32582302
FGD4Charcot-Marie-Tooth, Type 4Benign
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr12:32735236
GRCh38:
Chr12:32582302
FGD4Charcot-Marie-Tooth disease, type IV, not specified, Charcot-Marie-Tooth, Type 4
Conflicting interpretations of pathogenicity
(Jan 18, 2017)
criteria provided, conflicting interpretations
24.
GRCh37:
Chr12:32735280
GRCh38:
Chr12:32582346
FGD4not specifiedUncertain significance
(Apr 22, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr12:32735285
GRCh38:
Chr12:32582351
FGD4not specifiedUncertain significance
(Jul 1, 2015)
criteria provided, single submitter
26.
GRCh37:
Chr12:32735370
GRCh38:
Chr12:32582436
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr12:32735370
GRCh38:
Chr12:32582436
FGD4not specifiedUncertain significance
(Aug 5, 2015)
criteria provided, single submitter
28.
GRCh37:
Chr12:32751497
GRCh38:
Chr12:32598563
FGD4Charcot-Marie-Tooth disease, type IVUncertain significance
(Dec 10, 2014)
criteria provided, single submitter
29.
GRCh37:
Chr12:32751500
GRCh38:
Chr12:32598566
FGD4Charcot-Marie-Tooth disease, type 4HPathogenic
(Jul 1, 2007)
no assertion criteria provided
30.
GRCh37:
Chr12:32754253
GRCh38:
Chr12:32601319
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr12:32754344
GRCh38:
Chr12:32601410
FGD4Charcot-Marie-Tooth disease, type 4HPathogenic
(Sep 13, 2012)
no assertion criteria provided
32.
GRCh37:
Chr12:32754367
GRCh38:
Chr12:32601433
FGD4Charcot-Marie-Tooth disease, type IV, Charcot-Marie-Tooth, Type 4Conflicting interpretations of pathogenicity
(Jan 21, 2017)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr12:32755079
GRCh38:
Chr12:32602145
FGD4not specifiedLikely benign
(Oct 18, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr12:32755110
GRCh38:
Chr12:32602176
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr12:32755151
GRCh38:
Chr12:32602217
FGD4Charcot-Marie-Tooth disease, type 4HPathogenic
(Sep 13, 2012)
no assertion criteria provided
36.
GRCh37:
Chr12:32755151
GRCh38:
Chr12:32602217
FGD4Charcot-Marie-Tooth disease, type 4HPathogenic
(Sep 13, 2012)
no assertion criteria provided
37.
GRCh37:
Chr12:32755255
GRCh38:
Chr12:32602321
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr12:32755259
GRCh38:
Chr12:32602325
FGD4Charcot-Marie-Tooth, Type 4Likely benign
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr12:32760887
GRCh38:
Chr12:32607953
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr12:32760956
GRCh38:
Chr12:32608022
FGD4Charcot-Marie-Tooth disease, type IV, Charcot-Marie-Tooth, Type 4Benign/Likely benign
(Jan 3, 2017)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr12:32761042
GRCh38:
Chr12:32608108
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr12:32763781
GRCh38:
Chr12:32610847
FGD4not specifiedLikely benign
(Aug 5, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr12:32764077
GRCh38:
Chr12:32611143
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr12:32764125
GRCh38:
Chr12:32611191
FGD4Charcot-Marie-Tooth disease, type IVUncertain significance
(Jul 31, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr12:32764157
GRCh38:
Chr12:32611223
FGD4not specifiedUncertain significance
(Sep 17, 2015)
criteria provided, single submitter
46.
GRCh37:
Chr12:32764184
GRCh38:
Chr12:32611250
FGD4not specified, Charcot-Marie-Tooth, Type 4Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr12:32764204
GRCh38:
Chr12:32611270
FGD4Charcot-Marie-Tooth disease, type 4HPathogenic
(Sep 13, 2012)
no assertion criteria provided
48.
GRCh37:
Chr12:32764208
GRCh38:
Chr12:32611274
FGD4not providedPathogenic
(Oct 10, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr12:32772620
GRCh38:
Chr12:32619686
FGD4Charcot-Marie-Tooth, Type 4Likely benign
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr12:32772641
GRCh38:
Chr12:32619707
FGD4not specifiedUncertain significance
(Jun 8, 2015)
criteria provided, single submitter
51.
GRCh37:
Chr12:32772659
GRCh38:
Chr12:32619725
FGD4Charcot-Marie-Tooth disease, type IV, not specified, Charcot-Marie-Tooth, Type 4
Uncertain significance
(Jan 21, 2017)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr12:32772690-32772691
GRCh38:
Chr12:32619756-32619757
FGD4not providedPathogenic
(Jul 25, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr12:32777359
GRCh38:
Chr12:32624425
FGD4Charcot-Marie-Tooth disease, type IV, not specified, Charcot-Marie-Tooth, Type 4
Benign/Likely benign
(Dec 24, 2016)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr12:32777362
GRCh38:
Chr12:32624428
FGD4not specified, Charcot-Marie-Tooth, Type 4Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr12:32777902
GRCh38:
Chr12:32624968
FGD4Charcot-Marie-Tooth disease, type IV, not specified, Charcot-Marie-Tooth, Type 4
Benign/Likely benign
(Dec 5, 2016)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr12:32777927
GRCh38:
Chr12:32624993
FGD4Charcot-Marie-Tooth disease, type IV, not specified, Charcot-Marie-Tooth, Type 4
Conflicting interpretations of pathogenicity
(Jan 20, 2017)
criteria provided, conflicting interpretations
57.
GRCh37:
Chr12:32777929
GRCh38:
Chr12:32624995
FGD4not specified, not providedUncertain significance
(Jan 6, 2017)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr12:32778581
GRCh38:
Chr12:32625647
FGD4Charcot-Marie-Tooth, Type 4Likely benign
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr12:32778611
GRCh38:
Chr12:32625677
FGD4Charcot-Marie-Tooth disease, type IV, not specified, Charcot-Marie-Tooth, Type 4
Conflicting interpretations of pathogenicity
(Jan 11, 2017)
criteria provided, conflicting interpretations
60.
GRCh37:
Chr12:32778650
GRCh38:
Chr12:32625716
FGD4Charcot-Marie-Tooth disease, type 4HPathogenic
(Sep 13, 2012)
no assertion criteria provided
61.
GRCh37:
Chr12:32778663
GRCh38:
Chr12:32625729
FGD4not specified, Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr12:32778663
GRCh38:
Chr12:32625729
FGD4Charcot-Marie-Tooth disease, type IV, not specified, Charcot-Marie-Tooth, Type 4
Conflicting interpretations of pathogenicity
(Dec 28, 2016)
criteria provided, conflicting interpretations
63.
GRCh37:
Chr12:32778664
GRCh38:
Chr12:32625730
FGD4Charcot-Marie-Tooth disease, type IV, not specifiedUncertain significance
(Dec 15, 2016)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr12:32778681
GRCh38:
Chr12:32625747
FGD4Charcot-Marie-Tooth disease, type IVPathogenic
(Aug 7, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr12:32778708
GRCh38:
Chr12:32625774
FGD4Charcot-Marie-Tooth disease, type 4HPathogenic
(Jul 1, 2007)
no assertion criteria provided
66.
GRCh37:
Chr12:32778721
GRCh38:
Chr12:32625787
FGD4not specifiedLikely benign
(Sep 1, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr12:32786481
GRCh38:
Chr12:32633547
FGD4Charcot-Marie-Tooth disease, type 4HPathogenic
(Sep 13, 2012)
no assertion criteria provided
68.
GRCh37:
Chr12:32786503
GRCh38:
Chr12:32633569
FGD4not specifiedLikely benign
(Jan 6, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr12:32786535
GRCh38:
Chr12:32633601
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr12:32786608-32786612
GRCh38:
Chr12:32633674-32633678
FGD4not providedPathogenic
(Feb 21, 2017)
criteria provided, single submitter
71.
GRCh37:
Chr12:32791727
GRCh38:
Chr12:32638793
FGD4Charcot-Marie-Tooth disease, type IVUncertain significance
(Oct 31, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr12:32793315
GRCh38:
Chr12:32640381
FGD4Charcot-Marie-Tooth disease, type IV, not specifiedUncertain significance
(Jan 10, 2017)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr12:32793342
GRCh38:
Chr12:32640408
FGD4not providedLikely pathogenic
(Jul 25, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr12:32793380
GRCh38:
Chr12:32640446
FGD4Charcot-Marie-Tooth disease, type IVLikely benign
(Jun 22, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr12:32793489
GRCh38:
Chr12:32640555
FGD4Charcot-Marie-Tooth, Type 4Likely benign
(Jun 14, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr12:32793757
GRCh38:
Chr12:32640823
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr12:32793878
GRCh38:
Chr12:32640944
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr12:32793964
GRCh38:
Chr12:32641030
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr12:32794201
GRCh38:
Chr12:32641267
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr12:32794229
GRCh38:
Chr12:32641295
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr12:32794259
GRCh38:
Chr12:32641325
FGD4Charcot-Marie-Tooth, Type 4Likely benign
(Jun 14, 2016)
criteria provided, single submitter
82.
GRCh37:
Chr12:32794262
GRCh38:
Chr12:32641328
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
83.
GRCh37:
Chr12:32794473
GRCh38:
Chr12:32641539
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr12:32794474
GRCh38:
Chr12:32641540
FGD4Charcot-Marie-Tooth, Type 4Likely benign
(Jun 14, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr12:32794535
GRCh38:
Chr12:32641601
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr12:32794600
GRCh38:
Chr12:32641666
FGD4Charcot-Marie-Tooth, Type 4Benign
(Jun 14, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr12:32794615
GRCh38:
Chr12:32641681
FGD4Charcot-Marie-Tooth, Type 4Likely benign
(Jun 14, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr12:32794627
GRCh38:
Chr12:32641693
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr12:32794741
GRCh38:
Chr12:32641807
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
90.
GRCh37:
Chr12:32794821
GRCh38:
Chr12:32641887
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
91.
GRCh37:
Chr12:32794823
GRCh38:
Chr12:32641889
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
92.
GRCh37:
Chr12:32794921
GRCh38:
Chr12:32641987
FGD4Charcot-Marie-Tooth, Type 4Benign
(Jun 14, 2016)
criteria provided, single submitter
93.
GRCh37:
Chr12:32794952
GRCh38:
Chr12:32642018
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr12:32794959
GRCh38:
Chr12:32642025
FGD4Charcot-Marie-Tooth, Type 4Benign
(Jun 14, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr12:32795171
GRCh38:
Chr12:32642237
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr12:32795190
GRCh38:
Chr12:32642256
FGD4Charcot-Marie-Tooth, Type 4Likely benign
(Jun 14, 2016)
criteria provided, single submitter
97.
GRCh37:
Chr12:32795248
GRCh38:
Chr12:32642314
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
98.
GRCh37:
Chr12:32795295
GRCh38:
Chr12:32642361
FGD4Charcot-Marie-Tooth, Type 4Likely benign
(Jun 14, 2016)
criteria provided, single submitter
99.
GRCh37:
Chr12:32795333
GRCh38:
Chr12:32642399
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr12:32795375
GRCh38:
Chr12:32642441
FGD4Charcot-Marie-Tooth, Type 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
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