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Results: 1 to 100 of 303

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
NSD1Beckwith-Wiedemann syndromePathogenic
(May 2, 2013)
no assertion criteria provided
2.
NSD1Beckwith-Wiedemann syndromePathogenic
(May 2, 2013)
no assertion criteria provided
3.
NSD1Sotos syndrome 1Pathogenic
(May 2, 2013)
no assertion criteria provided
4.
NSD1Sotos syndrome 1Pathogenic
(May 2, 2013)
no assertion criteria provided
5.
NSD1Sotos syndrome 1Pathogenic
(May 2, 2013)
no assertion criteria provided
6.
NSD1Sotos syndrome 1Pathogenic
(May 2, 2013)
no assertion criteria provided
7.
NSD1Sotos syndrome 1Pathogenic
(May 2, 2013)
no assertion criteria provided
8.
NSD1Sotos syndrome 1Pathogenic
(May 2, 2013)
no assertion criteria provided
9.
GRCh37:
Chr5:174397487-180686444
See casesPathogenic
(Jan 17, 2014)
criteria provided, single submitter
10.
GRCh37:
Chr5:176638956-176638957
NSD1not providedUncertain significance
(Jan 2, 2015)
criteria provided, single submitter
11.
GRCh37:
Chr5:176562212
GRCh38:
Chr5:177135211
NSD1Sotos syndrome 1Uncertain significance
(Feb 8, 2013)
criteria provided, single submitter
12.
GRCh37:
Chr5:176562246
GRCh38:
Chr5:177135245
NSD1Sotos syndrome 1Uncertain significance
(Feb 8, 2013)
criteria provided, single submitter
13.
GRCh37:
Chr5:176562251
GRCh38:
Chr5:177135250
NSD1Malignant melanomanot providedno assertion provided
14.
GRCh37:
Chr5:176562257
GRCh38:
Chr5:177135256
NSD1not providedUncertain significance
(Jan 24, 2014)
criteria provided, single submitter
15.
GRCh37:
Chr5:176562443
GRCh38:
Chr5:177135442
NSD1not specifiedGMAF:0.01060(T)Benign/Likely benign
(Sep 4, 2014)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr5:176562456
GRCh38:
Chr5:177135455
NSD1not specifiedBenign
(Feb 8, 2013)
criteria provided, single submitter
17.
GRCh37:
Chr5:176562499
GRCh38:
Chr5:177135498
NSD1not specifiedBenign
(Feb 8, 2013)
criteria provided, single submitter
18.
GRCh37:
Chr5:176562857-176562859
GRCh38:
Chr5:177135856-177135858
NSD1not providedUncertain significance
(Apr 23, 2013)
criteria provided, single submitter
19.
GRCh37:
Chr5:176562864
GRCh38:
Chr5:177135863
NSD1not specifiedGMAF:0.00220(T)Benign/Likely benign
(Apr 7, 2014)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr5:176562871
GRCh38:
Chr5:177135870
NSD1not specifiedLikely benign
(Feb 8, 2013)
criteria provided, single submitter
21.
GRCh37:
Chr5:176631134
GRCh38:
Chr5:177204133
NSD1Sotos syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
22.
GRCh37:
Chr5:176631206
GRCh38:
Chr5:177204205
NSD1Sotos syndrome 1, not specifiedGMAF:0.00100(T)Conflicting interpretations of pathogenicity
(Mar 18, 2014)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr5:176631281
GRCh38:
Chr5:177204280
NSD1Sotos syndrome 1Uncertain significance
(Feb 8, 2013)
criteria provided, single submitter
24.
GRCh37:
Chr5:176636627
GRCh38:
Chr5:177209626
NSD1Sotos syndrome 1Uncertain significance
(Feb 8, 2013)
criteria provided, single submitter
25.
GRCh37:
Chr5:176636662
GRCh38:
Chr5:177209661
NSD1Sotos syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
26.
GRCh37:
Chr5:176636710
GRCh38:
Chr5:177209709
NSD1Sotos syndrome 1Pathogenic
(May 2, 2013)
no assertion criteria provided
27.
GRCh37:
Chr5:176636764
GRCh38:
Chr5:177209763
NSD1not providedGO-ESP:0.00015(C)Uncertain significance
(Oct 24, 2013)
criteria provided, single submitter
28.
GRCh37:
Chr5:176636828
GRCh38:
Chr5:177209827
NSD1Sotos syndrome 1Uncertain significance
(Feb 8, 2013)
criteria provided, single submitter
29.
GRCh37:
Chr5:176636856
GRCh38:
Chr5:177209855
NSD1Sotos syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
30.
GRCh37:
Chr5:176636871
GRCh38:
Chr5:177209870
NSD1Sotos syndrome 1Uncertain significance
(Feb 8, 2013)
criteria provided, single submitter
31.
GRCh37:
Chr5:176636882
GRCh38:
Chr5:177209881
NSD1not specifiedGO-ESP:0.35414(T)
GMAF:0.46810(T)
Benign
(Jun 10, 2013)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr5:176636895
GRCh38:
Chr5:177209894
NSD1not specifiedLikely benign
(Feb 8, 2013)
criteria provided, single submitter
33.
GRCh37:
Chr5:176636915
GRCh38:
Chr5:177209914
NSD1not specified, not providedGO-ESP:0.00707(C)
GMAF:0.00740(C)
Benign
(Jan 31, 2014)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr5:176636958
GRCh38:
Chr5:177209957
NSD1Sotos syndrome 1GMAF:0.00020(A)Uncertain significance
(Feb 8, 2013)
criteria provided, single submitter
35.
GRCh37:
Chr5:176637035
GRCh38:
Chr5:177210034
NSD1not providedUncertain significance
(Jan 27, 2015)
criteria provided, single submitter
36.
GRCh37:
Chr5:176637066
GRCh38:
Chr5:177210065
NSD1not providedGO-ESP:0.00015(G)
GMAF:0.00040(G)
Uncertain significance
(Sep 27, 2013)
criteria provided, single submitter
37.
GRCh37:
Chr5:176637090
GRCh38:
Chr5:177210089
NSD1not specifiedGMAF:0.00620(T)Likely benign
(Feb 8, 2013)
criteria provided, single submitter
38.
GRCh37:
Chr5:176637142
GRCh38:
Chr5:177210141
NSD1Sotos syndrome 1Pathogenic
(Jan 3, 2014)
no assertion criteria provided
39.
GRCh37:
Chr5:176637149
GRCh38:
Chr5:177210148
NSD1not specifiedGO-ESP:0.10043(A)Benign
(Jun 10, 2013)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr5:176637170
GRCh38:
Chr5:177210169
NSD1not providedUncertain significance
(Sep 13, 2013)
criteria provided, single submitter
41.
GRCh37:
Chr5:176637192
GRCh38:
Chr5:177210191
NSD1not specifiedGO-ESP:0.00615(C)
GMAF:0.01340(C)
Benign
(May 22, 2013)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr5:176637210
GRCh38:
Chr5:177210209
NSD1Sotos syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
43.
GRCh37:
Chr5:176637211
GRCh38:
Chr5:177210210
NSD1Sotos syndrome 1GMAF:0.00560(T)Uncertain significance
(Feb 8, 2013)
criteria provided, single submitter
44.
GRCh37:
Chr5:176637222
GRCh38:
Chr5:177210221
NSD1not providedLikely pathogeniccriteria provided, single submitter
45.
GRCh37:
Chr5:176637229
GRCh38:
Chr5:177210228
NSD1not providedGO-ESP:0.00008(G)Uncertain significance
(Aug 15, 2014)
criteria provided, single submitter
46.
GRCh37:
Chr5:176637231
GRCh38:
Chr5:177210230
NSD1Sotos syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
47.
GRCh37:
Chr5:176637240
GRCh38:
Chr5:177210239
NSD1not specifiedGO-ESP:0.09934(T)
GMAF:0.22860(T)
Benign
(Jun 10, 2013)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr5:176637380
GRCh38:
Chr5:177210379
NSD1not specifiedGMAF:0.00080(T)Likely benign
(Feb 8, 2013)
criteria provided, single submitter
49.
GRCh37:
Chr5:176637414-176637418
GRCh38:
Chr5:177210413-177210417
NSD1Sotos syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
50.
GRCh37:
Chr5:176637448
GRCh38:
Chr5:177210447
NSD1Sotos syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
51.
GRCh37:
Chr5:176637449-176637453
GRCh38:
Chr5:177210448-177210452
NSD1Sotos syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
52.
GRCh37:
Chr5:176637458
GRCh38:
Chr5:177210457
NSD1not providedLikely pathogeniccriteria provided, single submitter
53.
GRCh37:
Chr5:176637464
GRCh38:
Chr5:177210463
NSD1Sotos syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
54.
GRCh37:
Chr5:176637471
GRCh38:
Chr5:177210470
NSD1not specifiedGMAF:0.01300(A)Benign
(Feb 8, 2013)
criteria provided, single submitter
55.
GRCh37:
Chr5:176637503
GRCh38:
Chr5:177210502
NSD1not providedUncertain significance
(Feb 14, 2014)
criteria provided, single submitter
56.
GRCh37:
Chr5:176637524-176637527
GRCh38:
Chr5:177210523-177210526
NSD1Sotos syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
57.
GRCh37:
Chr5:176637569
GRCh38:
Chr5:177210568
NSD1not specifiedGMAF:0.00620(T)Likely benign
(Feb 8, 2013)
criteria provided, single submitter
58.
GRCh37:
Chr5:176637576
GRCh38:
Chr5:177210575
NSD1not specifiedGO-ESP:0.12633(C)
GMAF:0.24960(C)
Benign
(Jun 10, 2013)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr5:176637642
GRCh38:
Chr5:177210641
NSD1not specifiedBenign
(Feb 8, 2013)
criteria provided, single submitter
60.
GRCh37:
Chr5:176637676
GRCh38:
Chr5:177210675
NSD1Sotos syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
61.
GRCh37:
Chr5:176637695
GRCh38:
Chr5:177210694
NSD1Sotos syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
62.
GRCh37:
Chr5:176637695
GRCh38:
Chr5:177210694
NSD1not specifiedGMAF:0.00200(T)Benign
(Feb 8, 2013)
criteria provided, single submitter
63.
GRCh37:
Chr5:176637739
GRCh38:
Chr5:177210738
NSD1Sotos syndrome 1GMAF:0.00160(T)Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
64.
GRCh37:
Chr5:176637749
GRCh38:
Chr5:177210748
NSD1Sotos syndrome 1, not providedPathogenic
(Aug 26, 2013)
criteria provided, single submitter
65.
GRCh37:
Chr5:176637750
GRCh38:
Chr5:177210749
NSD1not providedGO-ESP:0.00008(G)Uncertain significance
(Jun 21, 2013)
criteria provided, single submitter
66.
GRCh37:
Chr5:176637786-176637789
GRCh38:
Chr5:177210785-177210788
NSD1Sotos syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
67.
GRCh37:
Chr5:176637799
GRCh38:
Chr5:177210798
NSD1Sotos syndrome 1, not providedGO-ESP:0.00008(C)Uncertain significance
(Apr 4, 2013)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr5:176637850
GRCh38:
Chr5:177210849
NSD1Sotos syndrome 1, not specifiedGO-ESP:0.00092(T)
GMAF:0.00140(T)
Conflicting interpretations of pathogenicity
(Feb 22, 2013)
criteria provided, conflicting interpretations
69.
GRCh37:
Chr5:176638039
GRCh38:
Chr5:177211038
NSD1Sotos syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
70.
GRCh37:
Chr5:176638054
GRCh38:
Chr5:177211053
NSD1Sotos syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
71.
GRCh37:
Chr5:176638096
GRCh38:
Chr5:177211095
NSD1not specifiedGMAF:0.00020(C)Likely benign
(Feb 8, 2013)
criteria provided, single submitter
72.
GRCh37:
Chr5:176638111
GRCh38:
Chr5:177211110
NSD1not providedUncertain significance
(Jun 24, 2013)
criteria provided, single submitter
73.
GRCh37:
Chr5:176638165
GRCh38:
Chr5:177211164
NSD1not providedUncertain significance
(Sep 12, 2014)
criteria provided, single submitter
74.
GRCh37:
Chr5:176638227
GRCh38:
Chr5:177211226
NSD1Sotos syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
75.
GRCh37:
Chr5:176638235
GRCh38:
Chr5:177211234
NSD1Sotos syndrome 1, not specifiedGO-ESP:0.00131(C)Conflicting interpretations of pathogenicity
(Jun 28, 2013)
criteria provided, conflicting interpretations
76.
GRCh37:
Chr5:176638325
GRCh38:
Chr5:177211324
NSD1Sotos syndrome 1Uncertain significance
(Feb 8, 2013)
criteria provided, single submitter
77.
GRCh37:
Chr5:176638344
GRCh38:
Chr5:177211343
NSD1not specifiedLikely benign
(Feb 8, 2013)
criteria provided, single submitter
78.
GRCh37:
Chr5:176638354-176638355
GRCh38:
Chr5:177211353-177211354
NSD1Sotos syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
79.
GRCh37:
Chr5:176638356
GRCh38:
Chr5:177211355
NSD1Sotos syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
80.
GRCh37:
Chr5:176638385
GRCh38:
Chr5:177211384
NSD1not providedUncertain significance
(Sep 4, 2013)
criteria provided, single submitter
81.
GRCh37:
Chr5:176638400
GRCh38:
Chr5:177211399
NSD1Sotos syndrome 1, not providedGMAF:0.00060(T)Uncertain significance
(Apr 7, 2014)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr5:176638446-176638447
GRCh38:
Chr5:177211445-177211446
NSD1Sotos syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
83.
GRCh37:
Chr5:176638467
GRCh38:
Chr5:177211466
NSD1Sotos syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
84.
GRCh37:
Chr5:176638488
GRCh38:
Chr5:177211487
NSD1not providedGO-ESP:0.00008(C)Uncertain significance
(Aug 6, 2013)
criteria provided, single submitter
85.
GRCh37:
Chr5:176638489
GRCh38:
Chr5:177211488
NSD1not specifiedBenign
(Feb 8, 2013)
criteria provided, single submitter
86.
GRCh37:
Chr5:176638491
GRCh38:
Chr5:177211490
NSD1Sotos syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
87.
GRCh37:
Chr5:176638506
GRCh38:
Chr5:177211505
NSD1not specifiedBenign
(Apr 7, 2014)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr5:176638510
GRCh38:
Chr5:177211509
NSD1not providedUncertain significance
(May 27, 2014)
criteria provided, single submitter
89.
GRCh37:
Chr5:176638550
GRCh38:
Chr5:177211549
NSD1not providedGO-ESP:0.00069(T)
GMAF:0.00060(T)
Uncertain significance
(Dec 14, 2012)
criteria provided, single submitter
90.
GRCh37:
Chr5:176638554
GRCh38:
Chr5:177211553
NSD1not specifiedLikely benign
(Aug 21, 2014)
criteria provided, single submitter
91.
GRCh37:
Chr5:176638585-176638586
GRCh38:
Chr5:177211584-177211585
NSD1Sotos syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
92.
GRCh37:
Chr5:176638587
GRCh38:
Chr5:177211586
NSD1not specifiedGMAF:0.00180(G)Benign
(Oct 16, 2013)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr5:176638614
GRCh38:
Chr5:177211613
NSD1Sotos syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
94.
GRCh37:
Chr5:176638671
GRCh38:
Chr5:177211670
NSD1not specifiedBenign
(Feb 8, 2013)
criteria provided, single submitter
95.
GRCh37:
Chr5:176638693
GRCh38:
Chr5:177211692
NSD1Sotos syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
96.
GRCh37:
Chr5:176638695
GRCh38:
Chr5:177211694
NSD1Sotos syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
97.
GRCh37:
Chr5:176638755
GRCh38:
Chr5:177211754
NSD1not providedUncertain significance
(Feb 19, 2014)
criteria provided, single submitter
98.
GRCh37:
Chr5:176638783
GRCh38:
Chr5:177211782
NSD1not providedGMAF:0.00020(A)Uncertain significance
(Aug 20, 2014)
criteria provided, single submitter
99.
GRCh37:
Chr5:176638783-176638784
GRCh38:
Chr5:177211782-177211783
NSD1Sotos syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
100.
GRCh37:
Chr5:176638789
GRCh38:
Chr5:177211788
NSD1not providedGO-ESP:0.00069(G)
GMAF:0.00020(G)
Uncertain significance
(Nov 18, 2014)
criteria provided, single submitter

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