S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Search results

Items: 1 to 100 of 134

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
SPRED1Legius syndromePathogenic
(Jul 1, 2011)
no assertion criteria provided
2.
SPRED1Legius syndromePathogenic
(Sep 1, 2007)
no assertion criteria provided
3.
GRCh37:
Chr15:38545078
GRCh38:
Chr15:38252877
SPRED1Legius syndromeGMAF:0.00020(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr15:38545093
GRCh38:
Chr15:38252892
SPRED1Legius syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr15:38545143
GRCh38:
Chr15:38252942
SPRED1Legius syndromeGMAF:0.01140(C)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr15:38545186
GRCh38:
Chr15:38252985
SPRED1Legius syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr15:38545196
GRCh38:
Chr15:38252995
SPRED1Legius syndromeGMAF:0.00060(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr15:38545231
GRCh38:
Chr15:38253030
SPRED1Legius syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr15:38545235
GRCh38:
Chr15:38253034
SPRED1Legius syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr15:38545294
GRCh38:
Chr15:38253093
SPRED1Legius syndromeGMAF:0.00860(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr15:38545300
GRCh38:
Chr15:38253099
SPRED1Legius syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr15:38545365
GRCh38:
Chr15:38253164
SPRED1not specifiedUncertain significance
(Sep 12, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr15:38545375
GRCh38:
Chr15:38253174
SPRED1not specifiedGMAF:0.00060(C)
GO-ESP:0.00006(T)
Uncertain significance
(Aug 10, 2015)
criteria provided, single submitter
14.
GRCh37:
Chr15:38545412
GRCh38:
Chr15:38253211
SPRED1not specifiedGO-ESP:0.00015(T)
GMAF:0.00040(T)
GO-ESP:0.00145(T)
Conflicting interpretations of pathogenicity
(Jul 25, 2016)
criteria provided, conflicting interpretations
15.
GRCh37:
Chr15:38545413
GRCh38:
Chr15:38253212
SPRED1not specifiedLikely benign
(Aug 6, 2013)
criteria provided, single submitter
16.
GRCh37:
Chr15:38591579
GRCh38:
Chr15:38299378
SPRED1not specifiedUncertain significance
(Oct 6, 2015)
criteria provided, single submitter
17.
GRCh37:
Chr15:38591587
GRCh38:
Chr15:38299386
SPRED1not providedPathogenic
(Sep 19, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr15:38591592
GRCh38:
Chr15:38299391
SPRED1Legius syndromeLikely benign
(Sep 13, 2015)
criteria provided, single submitter
19.
GRCh37:
Chr15:38591611
GRCh38:
Chr15:38299410
SPRED1Legius syndromePathogenic
(Dec 25, 2015)
criteria provided, single submitter
20.
GRCh37:
Chr15:38591612
GRCh38:
Chr15:38299411
SPRED1not providedLikely pathogenic
(Oct 17, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr15:38591615
GRCh38:
Chr15:38299414
SPRED1not specifiedUncertain significance
(Dec 22, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr15:38591665
GRCh38:
Chr15:38299464
SPRED1not specifiedGO-ESP:0.00038(A)
GMAF:0.00160(A)
GO-ESP:0.00069(A)
Conflicting interpretations of pathogenicity
(Aug 19, 2016)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr15:38591672
GRCh38:
Chr15:38299471
SPRED1Legius syndromePathogenic
(Jul 1, 2009)
no assertion criteria provided
24.
GRCh37:
Chr15:38591718
GRCh38:
Chr15:38299517
SPRED1not specifiedGO-ESP:0.00003(C)Likely benign
(Jan 15, 2013)
criteria provided, single submitter
25.
GRCh37:
Chr15:38591731
GRCh38:
Chr15:38299530
SPRED1Legius syndromePathogenic
(Jul 1, 2009)
no assertion criteria provided
26.
GRCh37:
Chr15:38591763
GRCh38:
Chr15:38299562
SPRED1not specifiedLikely benign
(Apr 25, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr15:38591785
GRCh38:
Chr15:38299584
SPRED1not specifiedGMAF:0.01260(G)
GO-ESP:0.00513(G)
Likely benigncriteria provided, single submitter
28.
GRCh37:
Chr15:38614424
GRCh38:
Chr15:38322223
SPRED1not specifiedBenign
(Mar 18, 2013)
criteria provided, single submitter
29.
GRCh37:
Chr15:38614463
GRCh38:
Chr15:38322262
SPRED1not providedPathogenic
(Jan 23, 2014)
criteria provided, single submitter
30.
GRCh37:
Chr15:38614515
GRCh38:
Chr15:38322314
SPRED1not specifiedUncertain significance
(Jan 5, 2017)
criteria provided, single submitter
31.
GRCh37:
Chr15:38614525
GRCh38:
Chr15:38322324
SPRED1Legius syndrome, not specifiedGO-ESP:0.82584(A)
GMAF:0.19990(G)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr15:38614583
GRCh38:
Chr15:38322382
SPRED1Legius syndromePathogenic
(Sep 1, 2007)
no assertion criteria provided
33.
GRCh37:
Chr15:38616954
GRCh38:
Chr15:38324753
SPRED1not specifiedGO-ESP:0.00015(G)
GO-ESP:0.00012(G)
Likely benign
(May 23, 2013)
criteria provided, single submitter
34.
GRCh37:
Chr15:38616971
GRCh38:
Chr15:38324770
SPRED1not specifiedLikely benign
(Apr 11, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr15:38631840
GRCh38:
Chr15:38339639
SPRED1Legius syndromeGMAF:0.20070(T)Benign
(Oct 14, 2010)
no assertion criteria provided
36.
GRCh37:
Chr15:38631920
GRCh38:
Chr15:38339719
SPRED1not specifiedGO-ESP:0.25027(A)
GMAF:0.17790(A)
GO-ESP:0.22654(A)
Benign
(Oct 15, 2015)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr15:38631930
GRCh38:
Chr15:38339729
SPRED1Legius syndrome, not specifiedGO-ESP:0.82546(A)
GMAF:0.20070(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr15:38631930
GRCh38:
Chr15:38339729
SPRED1Legius syndromeGMAF:0.20070(C)
GO-ESP:0.13630(C)
Benign
(Oct 14, 2010)
no assertion criteria provided
39.
GRCh37:
Chr15:38631934
GRCh38:
Chr15:38339733
SPRED1not specifiedUncertain significance
(Nov 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr15:38632078
GRCh38:
Chr15:38339877
SPRED1Legius syndromeGO-ESP:0.00008(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr15:38632079
GRCh38:
Chr15:38339878
SPRED1Legius syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr15:38641616
GRCh38:
Chr15:38349415
SPRED1Legius syndrome, not specifiedGO-ESP:0.00785(G)
GMAF:0.01060(G)
GO-ESP:0.00211(G)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr15:38641627
GRCh38:
Chr15:38349426
SPRED1Legius syndrome, not specifiedGO-ESP:0.00011(T)Uncertain significance
(Dec 25, 2015)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr15:38641634
GRCh38:
Chr15:38349433
SPRED1not specifiedLikely benign
(Aug 2, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr15:38641676
GRCh38:
Chr15:38349475
SPRED1not specifiedLikely benign
(Aug 9, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr15:38641677
GRCh38:
Chr15:38349476
SPRED1Legius syndromePathogenic
(Jul 1, 2009)
no assertion criteria provided
47.
GRCh37:
Chr15:38641683
GRCh38:
Chr15:38349482
SPRED1Legius syndromePathogenic
(Sep 1, 2007)
no assertion criteria provided
48.
GRCh37:
Chr15:38641715
GRCh38:
Chr15:38349514
SPRED1Legius syndrome, not specifiedGO-ESP:0.00085(T)
GMAF:0.00140(T)
GO-ESP:0.00106(T)
Benign
(Nov 23, 2016)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr15:38641774
GRCh38:
Chr15:38349573
SPRED1not specifiedGMAF:0.00200(T)
GO-ESP:0.02610(T)
Uncertain significance
(Mar 18, 2013)
criteria provided, single submitter
50.
GRCh37:
Chr15:38643207
GRCh38:
Chr15:38351006
SPRED1Legius syndromeGO-ESP:0.00016(C)Likely benign
(Mar 21, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr15:38643232
GRCh38:
Chr15:38351031
SPRED1Legius syndrome, not specifiedGMAF:0.00120(G)
GO-ESP:0.00028(G)
Uncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr15:38643237
GRCh38:
Chr15:38351036
SPRED1Legius syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr15:38643314
GRCh38:
Chr15:38351113
SPRED1Legius syndromePathogenic
(Jul 1, 2009)
no assertion criteria provided
54.
GRCh37:
Chr15:38643326-38643327
GRCh38:
Chr15:38351125-38351126
SPRED1Legius syndromePathogenic
(Sep 6, 2015)
criteria provided, single submitter
55.
GRCh37:
Chr15:38643337
GRCh38:
Chr15:38351136
SPRED1not specifiedUncertain significance
(Dec 2, 2015)
criteria provided, single submitter
56.
GRCh37:
Chr15:38643409
GRCh38:
Chr15:38351208
SPRED1not specifiedLikely benign
(May 25, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr15:38643411
GRCh38:
Chr15:38351210
SPRED1Legius syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr15:38643416
GRCh38:
Chr15:38351215
SPRED1Legius syndromeGMAF:0.00020(C)
GO-ESP:0.00022(C)
Likely benign
(Feb 6, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr15:38643456
GRCh38:
Chr15:38351255
SPRED1not specifiedGMAF:0.00200(C)
GO-ESP:0.00067(C)
Likely benign
(Mar 19, 2012)
criteria provided, single submitter
60.
GRCh37:
Chr15:38643463
GRCh38:
Chr15:38351262
SPRED1not specifiedLikely benign
(Jul 15, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr15:38643469
GRCh38:
Chr15:38351268
SPRED1Legius syndrome, not specifiedGMAF:0.00060(A)
GO-ESP:0.00064(A)
Likely benign
(Jan 19, 2016)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr15:38643493
GRCh38:
Chr15:38351292
SPRED1Legius syndromeGO-ESP:0.00016(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr15:38643503
GRCh38:
Chr15:38351302
SPRED1Legius syndromePathogenic
(Apr 10, 2015)
no assertion criteria provided
64.
GRCh37:
Chr15:38643525
GRCh38:
Chr15:38351324
SPRED1Legius syndromeGO-ESP:0.00006(A)Uncertain significance
(Dec 7, 2015)
criteria provided, single submitter
65.
GRCh37:
Chr15:38643530
GRCh38:
Chr15:38351329
SPRED1Legius syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr15:38643535
GRCh38:
Chr15:38351334
SPRED1Legius syndromeGO-ESP:0.00001(T)Likely benign
(Dec 7, 2015)
criteria provided, single submitter
67.
GRCh37:
Chr15:38643574
GRCh38:
Chr15:38351373
SPRED1Legius syndrome, not specifiedGO-ESP:0.82538(C)
GMAF:0.20050(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr15:38643578-38643590
GRCh38:
Chr15:38351377-38351389
SPRED1not providedLikely pathogenic
(Sep 30, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr15:38643638
GRCh38:
Chr15:38351437
SPRED1not specifiedUncertain significance
(Jul 31, 2012)
criteria provided, single submitter
70.
GRCh37:
Chr15:38643640
GRCh38:
Chr15:38351439
SPRED1not specifiedLikely benign
(Oct 8, 2015)
criteria provided, single submitter
71.
GRCh37:
Chr15:38643681-38643682
GRCh38:
Chr15:38351480-38351481
SPRED1Legius syndromePathogenic
(Feb 24, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr15:38643706
GRCh38:
Chr15:38351505
SPRED1not specifiedLikely benign
(Oct 31, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr15:38643812
GRCh38:
Chr15:38351611
SPRED1not specifiedUncertain significance
(Nov 13, 2015)
criteria provided, single submitter
74.
GRCh37:
Chr15:38644014
GRCh38:
Chr15:38351813
SPRED1Legius syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr15:38644113
GRCh38:
Chr15:38351912
SPRED1Legius syndromeGMAF:0.04410(C)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr15:38644121
GRCh38:
Chr15:38351920
SPRED1Legius syndromeGMAF:0.00540(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr15:38644292
GRCh38:
Chr15:38352091
SPRED1Legius syndromeGMAF:0.00660(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr15:38644430
GRCh38:
Chr15:38352229
SPRED1Legius syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr15:38644453-38644460
GRCh38:
Chr15:38352252-38352259
SPRED1Legius syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr15:38644455-38644460
GRCh38:
Chr15:38352254-38352259
SPRED1Legius syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr15:38644457-38644460
GRCh38:
Chr15:38352256-38352259
SPRED1Legius syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
82.
GRCh37:
Chr15:38644459-38644460
GRCh38:
Chr15:38352258-38352259
SPRED1Legius syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
83.
GRCh37:
Chr15:38644675
GRCh38:
Chr15:38352474
SPRED1Legius syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr15:38644905
GRCh38:
Chr15:38352704
SPRED1Legius syndromeGMAF:0.00440(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr15:38645202
GRCh38:
Chr15:38353001
SPRED1Legius syndromeGMAF:0.00020(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr15:38645265
GRCh38:
Chr15:38353064
SPRED1Legius syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr15:38645428
GRCh38:
Chr15:38353227
SPRED1Legius syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr15:38645524-38645527
GRCh38:
Chr15:38353323-38353326
SPRED1Legius syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr15:38645589
GRCh38:
Chr15:38353388
SPRED1Legius syndromeGMAF:0.11000(C)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
90.
GRCh37:
Chr15:38645612
GRCh38:
Chr15:38353411
SPRED1Legius syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
91.
GRCh37:
Chr15:38645663
GRCh38:
Chr15:38353462
SPRED1Legius syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
92.
GRCh37:
Chr15:38645762
GRCh38:
Chr15:38353561
SPRED1Legius syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
93.
GRCh37:
Chr15:38646224
GRCh38:
Chr15:38354023
SPRED1Legius syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr15:38646279
GRCh38:
Chr15:38354078
SPRED1Legius syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr15:38646371-38646378
GRCh38:
Chr15:38354170-38354177
SPRED1Legius syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr15:38646435
GRCh38:
Chr15:38354234
SPRED1Legius syndromeGMAF:0.00200(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
97.
GRCh37:
Chr15:38646696
GRCh38:
Chr15:38354495
SPRED1Legius syndromeGMAF:0.13760(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
98.
GRCh37:
Chr15:38646708
GRCh38:
Chr15:38354507
SPRED1Legius syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
99.
GRCh37:
Chr15:38646750
GRCh38:
Chr15:38354549
SPRED1Legius syndromeGMAF:0.00380(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr15:38646922
GRCh38:
Chr15:38354721
SPRED1Legius syndromeGMAF:0.00680(G)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Format
Items per page
Sort by

Download:

Choose Destination
Support Center