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Items: 1 to 100 of 594

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
DNAH5Primary ciliary dyskinesiaPathogenic
(Apr 2, 2015)
criteria provided, single submitter
2.
DNAH5Ciliary dyskinesia, primary, 3Pathogenic
(Jan 10, 2013)
no assertion criteria provided
3.
DNAH5Ciliary dyskinesia, primary, 3Pathogenic
(Jan 10, 2013)
no assertion criteria provided
4.
DNAH5Ciliary dyskinesia, primary, 3Pathogenic
(Feb 1, 2002)
no assertion criteria provided
5.
DNAH5Ciliary dyskinesia, primary, 3Pathogenic
(Feb 1, 2002)
no assertion criteria provided
6.
DNAH5Ciliary dyskinesia, primary, 3Pathogenic
(Feb 1, 2002)
no assertion criteria provided
7.
GRCh37:
Chr5:13690480
GRCh38:
Chr5:13690371
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr5:13690587
GRCh38:
Chr5:13690478
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr5:13690591
GRCh38:
Chr5:13690482
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr5:13690704
GRCh38:
Chr5:13690595
DNAH5Primary ciliary dyskinesiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr5:13690732
GRCh38:
Chr5:13690623
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr5:13690751
GRCh38:
Chr5:13690642
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr5:13690937
GRCh38:
Chr5:13690828
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr5:13690974
GRCh38:
Chr5:13690865
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr5:13691045
GRCh38:
Chr5:13690936
DNAH5Primary ciliary dyskinesiaBenign
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr5:13691291
GRCh38:
Chr5:13691182
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr5:13691444
GRCh38:
Chr5:13691335
DNAH5Primary ciliary dyskinesiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr5:13691530
GRCh38:
Chr5:13691421
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr5:13691648
GRCh38:
Chr5:13691539
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr5:13691667
GRCh38:
Chr5:13691558
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr5:13692001
GRCh38:
Chr5:13691892
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr5:13692125
GRCh38:
Chr5:13692016
DNAH5Primary ciliary dyskinesiaUncertain significance
(Mar 6, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr5:13692143
GRCh38:
Chr5:13692034
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr5:13692151
GRCh38:
Chr5:13692042
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr5:13692190
GRCh38:
Chr5:13692081
DNAH5Primary ciliary dyskinesia, not specifiedUncertain significance
(Nov 3, 2016)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr5:13692193
GRCh38:
Chr5:13692084
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr5:13692221
GRCh38:
Chr5:13692112
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr5:13692251
GRCh38:
Chr5:13692142
DNAH5not specifiedLikely benigncriteria provided, single submitter
29.
GRCh37:
Chr5:13692279
GRCh38:
Chr5:13692170
DNAH5not specifiedBenigncriteria provided, single submitter
30.
GRCh37:
Chr5:13700800
GRCh38:
Chr5:13700691
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr5:13700903
GRCh38:
Chr5:13700794
DNAH5Primary ciliary dyskinesia, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
32.
GRCh37:
Chr5:13701356
GRCh38:
Chr5:13701247
DNAH5not specifiedBenigncriteria provided, single submitter
33.
GRCh37:
Chr5:13701398
GRCh38:
Chr5:13701289
DNAH5Primary ciliary dyskinesiaPathogenic
(Nov 19, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr5:13701417
GRCh38:
Chr5:13701308
DNAH5Primary ciliary dyskinesia, not specifiedConflicting interpretations of pathogenicity
(Nov 1, 2016)
criteria provided, conflicting interpretations
35.
GRCh37:
Chr5:13701422
GRCh38:
Chr5:13701313
DNAH5Primary ciliary dyskinesia, not specifiedBenign/Likely benign
(Nov 24, 2016)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr5:13701426
GRCh38:
Chr5:13701317
DNAH5Primary ciliary dyskinesiaLikely pathogenic
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr5:13701447
GRCh38:
Chr5:13701338
DNAH5Primary ciliary dyskinesiaLikely benign
(Aug 8, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr5:13701525
GRCh38:
Chr5:13701416
DNAH5Primary ciliary dyskinesia, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr5:13701536
GRCh38:
Chr5:13701427
DNAH5Primary ciliary dyskinesia, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr5:13708216
GRCh38:
Chr5:13708107
DNAH5not specifiedBenigncriteria provided, single submitter
41.
GRCh37:
Chr5:13708239
GRCh38:
Chr5:13708130
DNAH5Primary ciliary dyskinesiaPathogenic
(Nov 30, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr5:13708284
GRCh38:
Chr5:13708175
DNAH5Primary ciliary dyskinesia, not specifiedConflicting interpretations of pathogenicity
(Oct 30, 2016)
criteria provided, conflicting interpretations
43.
GRCh37:
Chr5:13708343
GRCh38:
Chr5:13708234
DNAH5Primary ciliary dyskinesiaUncertain significance
(May 11, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr5:13708373-13708376
GRCh38:
Chr5:13708264-13708267
DNAH5Primary ciliary dyskinesiaLikely pathogenic
(Nov 8, 2013)
criteria provided, single submitter
45.
GRCh37:
Chr5:13708396
GRCh38:
Chr5:13708287
DNAH5Primary ciliary dyskinesiaUncertain significance
(Apr 3, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr5:13708415
GRCh38:
Chr5:13708306
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr5:13708446
GRCh38:
Chr5:13708337
DNAH5Primary ciliary dyskinesiaPathogenic
(Jan 21, 2015)
criteria provided, single submitter
48.
GRCh37:
Chr5:13708483
GRCh38:
Chr5:13708374
DNAH5not specifiedBenigncriteria provided, single submitter
49.
GRCh37:
Chr5:13714567
GRCh38:
Chr5:13714458
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr5:13714568
GRCh38:
Chr5:13714459
DNAH5Primary ciliary dyskinesia, not specifiedBenign/Likely benign
(Oct 30, 2016)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr5:13714569
GRCh38:
Chr5:13714460
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr5:13714577
GRCh38:
Chr5:13714468
DNAH5Primary ciliary dyskinesiaBenign
(Jan 21, 2015)
criteria provided, single submitter
53.
GRCh37:
Chr5:13714634
GRCh38:
Chr5:13714525
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr5:13714702
GRCh38:
Chr5:13714593
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr5:13714716
GRCh38:
Chr5:13714607
DNAH5Primary ciliary dyskinesia, not specifiedConflicting interpretations of pathogenicity
(Nov 1, 2016)
criteria provided, conflicting interpretations
56.
GRCh37:
Chr5:13714740
GRCh38:
Chr5:13714631
DNAH5Primary ciliary dyskinesia, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr5:13716627
GRCh38:
Chr5:13716518
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jan 6, 2017)
criteria provided, single submitter
58.
GRCh37:
Chr5:13716648
GRCh38:
Chr5:13716539
DNAH5Primary ciliary dyskinesiaUncertain significance
(Oct 21, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr5:13716663
GRCh38:
Chr5:13716554
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr5:13716771
GRCh38:
Chr5:13716662
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr5:13716797
GRCh38:
Chr5:13716688
DNAH5Primary ciliary dyskinesia, not specifiedBenign/Likely benign
(Jan 20, 2017)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr5:13717439
GRCh38:
Chr5:13717330
DNAH5not specifiedLikely benigncriteria provided, single submitter
63.
GRCh37:
Chr5:13717471
GRCh38:
Chr5:13717362
DNAH5Primary ciliary dyskinesia, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr5:13717474
GRCh38:
Chr5:13717365
DNAH5not specifiedUncertain significance
(Jul 22, 2014)
criteria provided, single submitter
65.
GRCh37:
Chr5:13717498
GRCh38:
Chr5:13717389
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr5:13717530
GRCh38:
Chr5:13717421
DNAH5Primary ciliary dyskinesiaPathogenic
(May 10, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr5:13717543
GRCh38:
Chr5:13717434
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr5:13717563
GRCh38:
Chr5:13717454
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr5:13717583
GRCh38:
Chr5:13717474
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr5:13717606
GRCh38:
Chr5:13717497
DNAH5Primary ciliary dyskinesiaUncertain significance
(Mar 5, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr5:13717640
GRCh38:
Chr5:13717531
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr5:13718998
GRCh38:
Chr5:13718889
DNAH5Primary ciliary dyskinesiaLikely benign
(Nov 26, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr5:13719018
GRCh38:
Chr5:13718909
DNAH5Primary ciliary dyskinesia, not specifiedBenign
(Oct 30, 2016)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr5:13719022
GRCh38:
Chr5:13718913
DNAH5Primary ciliary dyskinesia, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr5:13719089
GRCh38:
Chr5:13718980
DNAH5Primary ciliary dyskinesia, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr5:13719094
GRCh38:
Chr5:13718985
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr5:13719111
GRCh38:
Chr5:13719002
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jul 29, 2015)
criteria provided, single submitter
78.
GRCh37:
Chr5:13719115
GRCh38:
Chr5:13719006
DNAH5Primary ciliary dyskinesiaLikely benign
(Sep 7, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr5:13719123
GRCh38:
Chr5:13719014
DNAH5Primary ciliary dyskinesia, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
80.
GRCh37:
Chr5:13719129
GRCh38:
Chr5:13719020
DNAH5Primary ciliary dyskinesiaUncertain significance
(Nov 10, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr5:13719141
GRCh38:
Chr5:13719032
DNAH5Primary ciliary dyskinesiaLikely benign
(Jan 6, 2017)
criteria provided, single submitter
82.
GRCh37:
Chr5:13719144
GRCh38:
Chr5:13719035
DNAH5not specifiedLikely benigncriteria provided, single submitter
83.
GRCh37:
Chr5:13719227
GRCh38:
Chr5:13719118
DNAH5not specifiedBenigncriteria provided, single submitter
84.
GRCh37:
Chr5:13721059
GRCh38:
Chr5:13720950
DNAH5not specifiedBenigncriteria provided, single submitter
85.
GRCh37:
Chr5:13721061
GRCh38:
Chr5:13720952
DNAH5not specifiedLikely benigncriteria provided, single submitter
86.
GRCh37:
Chr5:13721089
GRCh38:
Chr5:13720980
DNAH5not specifiedLikely benigncriteria provided, single submitter
87.
GRCh37:
Chr5:13721103
GRCh38:
Chr5:13720994
DNAH5not specifiedLikely benigncriteria provided, single submitter
88.
GRCh37:
Chr5:13721123
GRCh38:
Chr5:13721014
DNAH5Primary ciliary dyskinesiaPathogenic
(Jul 31, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr5:13721137
GRCh38:
Chr5:13721028
DNAH5Primary ciliary dyskinesiaUncertain significance
(Aug 28, 2015)
criteria provided, single submitter
90.
GRCh37:
Chr5:13721154
GRCh38:
Chr5:13721045
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
91.
GRCh37:
Chr5:13721179
GRCh38:
Chr5:13721070
DNAH5not specifiedUncertain significance
(Sep 16, 2015)
criteria provided, single submitter
92.
GRCh37:
Chr5:13721344
GRCh38:
Chr5:13721235
DNAH5Primary ciliary dyskinesiaUncertain significance
(Oct 15, 2016)
criteria provided, single submitter
93.
GRCh37:
Chr5:13721378
GRCh38:
Chr5:13721269
DNAH5not specifiedBenigncriteria provided, single submitter
94.
GRCh37:
Chr5:13727609
GRCh38:
Chr5:13727500
DNAH5Primary ciliary dyskinesia, not specifiedBenign/Likely benign
(Nov 24, 2016)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr5:13727663
GRCh38:
Chr5:13727554
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr5:13727675
GRCh38:
Chr5:13727566
DNAH5not specifiedUncertain significance
(Sep 2, 2015)
criteria provided, single submitter
97.
GRCh37:
Chr5:13729714
GRCh38:
Chr5:13729605
DNAH5not specifiedBenigncriteria provided, single submitter
98.
GRCh37:
Chr5:13735235
GRCh38:
Chr5:13735126
DNAH5Primary ciliary dyskinesia, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
99.
GRCh37:
Chr5:13735276
GRCh38:
Chr5:13735167
DNAH5Primary ciliary dyskinesiaPathogenic
(Oct 30, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr5:13735307
GRCh38:
Chr5:13735198
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
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