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

Download:

Choose Destination

Search results

Items: 1 to 100 of 2415

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr5:13690441
GRCh38:
Chr5:13690332
DNAH5Ciliary dyskinesia, primary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000907849
2.
GRCh37:
Chr5:13690480
GRCh38:
Chr5:13690371
DNAH5Ciliary dyskinesia, primary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000350902
3.
GRCh37:
Chr5:13690502
GRCh38:
Chr5:13690393
DNAH5Ciliary dyskinesia, primary, 3Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000907850
4.
GRCh37:
Chr5:13690587
GRCh38:
Chr5:13690478
DNAH5Ciliary dyskinesia, primary, 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000350903
5.
GRCh37:
Chr5:13690591
GRCh38:
Chr5:13690482
DNAH5Ciliary dyskinesia, primary, 3Likely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000350904
6.
GRCh37:
Chr5:13690704
GRCh38:
Chr5:13690595
DNAH5Ciliary dyskinesia, primary, 3Likely benign
(Apr 27, 2017)
criteria provided, single submitterVCV000350905
7.
GRCh37:
Chr5:13690732
GRCh38:
Chr5:13690623
DNAH5Ciliary dyskinesia, primary, 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000350906
8.
GRCh37:
Chr5:13690751
GRCh38:
Chr5:13690642
DNAH5Ciliary dyskinesia, primary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000350907
9.
GRCh37:
Chr5:13690795
GRCh38:
Chr5:13690686
DNAH5Ciliary dyskinesia, primary, 3Uncertain significance
(Mar 30, 2018)
criteria provided, single submitterVCV000904535
10.
GRCh37:
Chr5:13690937
GRCh38:
Chr5:13690828
DNAH5Ciliary dyskinesia, primary, 3Likely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000350908
11.
GRCh37:
Chr5:13690974
GRCh38:
Chr5:13690865
DNAH5Ciliary dyskinesia, primary, 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000350909
12.
GRCh37:
Chr5:13691045
GRCh38:
Chr5:13690936
DNAH5Ciliary dyskinesia, primary, 3Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000350910
13.
GRCh37:
Chr5:13691173
GRCh38:
Chr5:13691064
DNAH5Ciliary dyskinesia, primary, 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000904536
14.
GRCh37:
Chr5:13691202
GRCh38:
Chr5:13691093
DNAH5Ciliary dyskinesia, primary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000904537
15.
GRCh37:
Chr5:13691210
GRCh38:
Chr5:13691101
DNAH5Ciliary dyskinesia, primary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000905325
16.
GRCh37:
Chr5:13691291
GRCh38:
Chr5:13691182
DNAH5Ciliary dyskinesia, primary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000350911
17.
GRCh37:
Chr5:13691318
GRCh38:
Chr5:13691209
DNAH5Ciliary dyskinesia, primary, 3Benign
(Apr 27, 2017)
criteria provided, single submitterVCV000905326
18.
GRCh37:
Chr5:13691396
GRCh38:
Chr5:13691287
DNAH5Ciliary dyskinesia, primary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000905327
19.
GRCh37:
Chr5:13691444
GRCh38:
Chr5:13691335
DNAH5Ciliary dyskinesia, primary, 3Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000350912
20.
GRCh37:
Chr5:13691530
GRCh38:
Chr5:13691421
DNAH5Ciliary dyskinesia, primary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000350913
21.
GRCh37:
Chr5:13691648
GRCh38:
Chr5:13691539
DNAH5Ciliary dyskinesia, primary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000350914
22.
GRCh37:
Chr5:13691666
GRCh38:
Chr5:13691557
DNAH5Ciliary dyskinesia, primary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000905328
23.
GRCh37:
Chr5:13691667
GRCh38:
Chr5:13691558
DNAH5Ciliary dyskinesia, primary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000350915
24.
GRCh37:
Chr5:13691738
GRCh38:
Chr5:13691629
DNAH5Ciliary dyskinesia, primary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000906932
25.
GRCh37:
Chr5:13691744
GRCh38:
Chr5:13691635
DNAH5Ciliary dyskinesia, primary, 3Uncertain significance
(Mar 30, 2018)
criteria provided, single submitterVCV000906933
26.
GRCh37:
Chr5:13691788
GRCh38:
Chr5:13691679
DNAH5Ciliary dyskinesia, primary, 3Uncertain significance
(Mar 16, 2018)
criteria provided, single submitterVCV000906934
27.
GRCh37:
Chr5:13691802
GRCh38:
Chr5:13691693
DNAH5Ciliary dyskinesia, primary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000906935
28.
GRCh37:
Chr5:13691812
GRCh38:
Chr5:13691703
DNAH5Ciliary dyskinesia, primary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000906936
29.
GRCh37:
Chr5:13691993
GRCh38:
Chr5:13691884
DNAH5Ciliary dyskinesia, primary, 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000906937
30.
GRCh37:
Chr5:13692001
GRCh38:
Chr5:13691892
DNAH5Ciliary dyskinesia, primary, 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000350916
31.
GRCh37:
Chr5:13692009
GRCh38:
Chr5:13691900
DNAH5Ciliary dyskinesia, primary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000907915
32.
GRCh37:
Chr5:13692073-13692264
GRCh38:
Chr5:13691964-13692155
DNAH5Primary ciliary dyskinesiaUncertain significance
(Apr 16, 2018)
criteria provided, single submitterVCV000583675
33.
GRCh37:
Chr5:13692106
GRCh38:
Chr5:13691997
DNAH5C4621YPrimary ciliary dyskinesiaUncertain significance
(Apr 22, 2017)
criteria provided, single submitterVCV000454747
34.
GRCh37:
Chr5:13692125
GRCh38:
Chr5:13692016
DNAH5R4615CPrimary ciliary dyskinesiaUncertain significance
(Mar 6, 2016)
criteria provided, single submitterVCV000238965
35.
GRCh37:
Chr5:13692143
GRCh38:
Chr5:13692034
DNAH5P4609TCiliary dyskinesia, primary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000350917
36.
GRCh37:
Chr5:13692151
GRCh38:
Chr5:13692042
DNAH5A4606DCiliary dyskinesia, primary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000350918
37.
GRCh37:
Chr5:13692171
GRCh38:
Chr5:13692062
DNAH5Primary ciliary dyskinesiaLikely benign
(May 21, 2020)
criteria provided, single submitterVCV001095044
38.
GRCh37:
Chr5:13692189
GRCh38:
Chr5:13692080
DNAH5Primary ciliary dyskinesiaLikely benign
(Sep 27, 2020)
criteria provided, single submitterVCV001101669
39.
GRCh37:
Chr5:13692189
GRCh38:
Chr5:13692080
DNAH5Primary ciliary dyskinesiaLikely benign
(Jul 21, 2020)
criteria provided, single submitterVCV000525489
40.
GRCh37:
Chr5:13692190
GRCh38:
Chr5:13692081
DNAH5T4593MPrimary ciliary dyskinesia, Ciliary dyskinesia, primary, 3, not provided
Uncertain significance
(Jan 12, 2018)
criteria provided, multiple submitters, no conflictsVCV000219653
41.
GRCh37:
Chr5:13692193
GRCh38:
Chr5:13692084
DNAH5R4592QPrimary ciliary dyskinesia, Ciliary dyskinesia, primary, 3Uncertain significance
(Oct 6, 2018)
criteria provided, multiple submitters, no conflictsVCV000238964
42.
GRCh37:
Chr5:13692194
GRCh38:
Chr5:13692085
DNAH5R4592*Primary ciliary dyskinesiaLikely pathogenic
(Aug 21, 2020)
criteria provided, single submitterVCV001066064
43.
GRCh37:
Chr5:13692195
GRCh38:
Chr5:13692086
DNAH5Primary ciliary dyskinesiaLikely benign
(Oct 30, 2019)
criteria provided, single submitterVCV001137818
44.
GRCh37:
Chr5:13692203
GRCh38:
Chr5:13692094
DNAH5K4589EPrimary ciliary dyskinesiaUncertain significance
(Oct 19, 2020)
no assertion criteria providedVCV000990998
45.
GRCh37:
Chr5:13692208
GRCh38:
Chr5:13692099
DNAH5Y4587CPrimary ciliary dyskinesiaUncertain significance
(Aug 12, 2017)
criteria provided, single submitterVCV000454746
46.
GRCh37:
Chr5:13692215
GRCh38:
Chr5:13692106
DNAH5P4585Tnot providedUncertain significance
(Aug 7, 2018)
criteria provided, single submitterVCV000598309
47.
GRCh37:
Chr5:13692219
GRCh38:
Chr5:13692110
DNAH5Primary ciliary dyskinesiaLikely benign
(Sep 28, 2019)
criteria provided, single submitterVCV001083940
48.
GRCh37:
Chr5:13692221
GRCh38:
Chr5:13692112
DNAH5S4583PCiliary dyskinesia, primary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000350919
49.
GRCh37:
Chr5:13692222
GRCh38:
Chr5:13692113
DNAH5Primary ciliary dyskinesiaUncertain significance
(Jun 9, 2020)
no assertion criteria providedVCV000990999
50.
GRCh37:
Chr5:13692223
GRCh38:
Chr5:13692114
DNAH5Y4582CPrimary ciliary dyskinesiaUncertain significance
(Nov 13, 2017)
criteria provided, single submitterVCV000525409
51.
GRCh37:
Chr5:13692234
GRCh38:
Chr5:13692125
DNAH5Ciliary dyskinesia, primary, 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000907916
52.
GRCh37:
Chr5:13692251
GRCh38:
Chr5:13692142
DNAH5not specified, Primary ciliary dyskinesiaLikely benign
(Sep 20, 2020)
criteria provided, multiple submitters, no conflictsVCV000258002
53.
GRCh37:
Chr5:13692279
GRCh38:
Chr5:13692170
DNAH5Ciliary dyskinesia, primary, 3, not specified, not provided
Benign
(Jul 30, 2021)
criteria provided, multiple submitters, no conflictsVCV000258001
54.
GRCh37:
Chr5:13700718
GRCh38:
Chr5:13700609
DNAH5not providedBenign
(Jun 9, 2019)
criteria provided, single submitterVCV001262142
55.
GRCh37:
Chr5:13700753
GRCh38:
Chr5:13700644
DNAH5Primary ciliary dyskinesiaLikely benign
(Oct 2, 2020)
criteria provided, single submitterVCV001151575
56.
GRCh37:
Chr5:13700758
GRCh38:
Chr5:13700649
DNAH5E4572KPrimary ciliary dyskinesiaUncertain significance
(Jan 26, 2019)
criteria provided, single submitterVCV000848221
57.
GRCh37:
Chr5:13700783
GRCh38:
Chr5:13700674
DNAH5L4563FPrimary ciliary dyskinesiaUncertain significance
(Jan 18, 2018)
criteria provided, single submitterVCV000525337
58.
GRCh37:
Chr5:13700795
GRCh38:
Chr5:13700686
DNAH5Primary ciliary dyskinesiaLikely benign
(Aug 14, 2020)
criteria provided, single submitterVCV001135956
59.
GRCh37:
Chr5:13700800
GRCh38:
Chr5:13700691
DNAH5K4558EPrimary ciliary dyskinesia, Ciliary dyskinesia, primary, 3Uncertain significance
(Oct 19, 2019)
criteria provided, multiple submitters, no conflictsVCV000350994
60.
GRCh37:
Chr5:13700816
GRCh38:
Chr5:13700707
DNAH5Primary ciliary dyskinesiaLikely benign
(Sep 5, 2019)
criteria provided, single submitterVCV001098147
61.
GRCh37:
Chr5:13700826
GRCh38:
Chr5:13700717
DNAH5N4549IPrimary ciliary dyskinesiaUncertain significance
(Oct 19, 2020)
criteria provided, single submitterVCV001019745
62.
GRCh37:
Chr5:13700831
GRCh38:
Chr5:13700722
DNAH5Primary ciliary dyskinesiaLikely benign
(Mar 7, 2020)
criteria provided, single submitterVCV001078455
63.
GRCh37:
Chr5:13700834
GRCh38:
Chr5:13700725
DNAH5D4546Enot providedUncertain significance
(Aug 26, 2019)
criteria provided, single submitterVCV001303413
64.
GRCh37:
Chr5:13700839
GRCh38:
Chr5:13700730
DNAH5W4545RPrimary ciliary dyskinesiaPathogenic
(Oct 24, 2018)
criteria provided, single submitterVCV000454745
65.
GRCh37:
Chr5:13700842
GRCh38:
Chr5:13700733
DNAH5G4544Snot providedUncertain significanceno assertion criteria providedVCV001049917
66.
GRCh37:
Chr5:13700863
GRCh38:
Chr5:13700754
DNAH5G4537CPrimary ciliary dyskinesiaUncertain significance
(Jan 28, 2019)
criteria provided, single submitterVCV000855638
67.
GRCh37:
Chr5:13700867
GRCh38:
Chr5:13700758
DNAH5Primary ciliary dyskinesiaLikely benign
(Apr 16, 2019)
criteria provided, single submitterVCV001109278
68.
GRCh37:
Chr5:13700881
GRCh38:
Chr5:13700772
DNAH5E4531KCiliary dyskinesia, primary, 3, Primary ciliary dyskinesiaUncertain significance
(May 3, 2018)
criteria provided, multiple submitters, no conflictsVCV000577261
69.
GRCh37:
Chr5:13700903
GRCh38:
Chr5:13700794
DNAH5Primary ciliary dyskinesiaLikely benign
(Dec 2, 2020)
criteria provided, single submitterVCV000699988
70.
GRCh37:
Chr5:13700903
GRCh38:
Chr5:13700794
DNAH5D4523Enot specified, Primary ciliary dyskinesia, Ciliary dyskinesia, primary, 3
Conflicting interpretations of pathogenicity
(Jul 22, 2021)
criteria provided, conflicting interpretationsVCV000163131
71.
GRCh37:
Chr5:13700932
GRCh38:
Chr5:13700823
DNAH5C4514RPrimary ciliary dyskinesiaUncertain significance
(Aug 20, 2020)
criteria provided, single submitterVCV000937349
72.
GRCh37:
Chr5:13700937
GRCh38:
Chr5:13700828
DNAH5V4512APrimary ciliary dyskinesiaUncertain significance
(Oct 6, 2020)
no assertion criteria providedVCV000991000
73.
GRCh37:
Chr5:13700959
GRCh38:
Chr5:13700850
DNAH5G4505CPrimary ciliary dyskinesiaUncertain significance
(Sep 4, 2020)
no assertion criteria providedVCV000991001
74.
GRCh37:
Chr5:13700970
GRCh38:
Chr5:13700861
DNAH5R4501QPrimary ciliary dyskinesiaUncertain significance
(Aug 15, 2017)
criteria provided, single submitterVCV000525266
75.
GRCh37:
Chr5:13700990
GRCh38:
Chr5:13700881
DNAH5Primary ciliary dyskinesiaLikely benign
(Jun 17, 2019)
criteria provided, single submitterVCV001115589
76.
GRCh37:
Chr5:13700991
GRCh38:
Chr5:13700882
DNAH5Ciliary dyskinesia, primary, 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000903679
77.
GRCh37:
Chr5:13700995
GRCh38:
Chr5:13700886
DNAH5not specifiedLikely benign
(Jul 13, 2016)
criteria provided, single submitterVCV000504723
78.
GRCh37:
Chr5:13701065
GRCh38:
Chr5:13700956
DNAH5not providedBenign
(Dec 31, 2018)
criteria provided, single submitterVCV001260490
79.
GRCh37:
Chr5:13701167
GRCh38:
Chr5:13701058
DNAH5not providedBenign
(Aug 10, 2019)
criteria provided, single submitterVCV001290465
80.
GRCh37:
Chr5:13701167
GRCh38:
Chr5:13701058
DNAH5not providedBenign
(Aug 13, 2019)
criteria provided, single submitterVCV001264369
81.
GRCh37:
Chr5:13701327
GRCh38:
Chr5:13701218
DNAH5not provided, Ciliary dyskinesia, primary, 3Benign
(Jun 15, 2021)
criteria provided, multiple submitters, no conflictsVCV001174030
82.
GRCh37:
Chr5:13701356
GRCh38:
Chr5:13701247
DNAH5not specified, not provided, Ciliary dyskinesia, primary, 3
Benign
(Jun 15, 2021)
criteria provided, multiple submitters, no conflictsVCV000258000
83.
GRCh37:
Chr5:13701385
GRCh38:
Chr5:13701276
DNAH5Ciliary dyskinesia, primary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000903681
84.
GRCh37:
Chr5:13701398
GRCh38:
Chr5:13701289
DNAH5Primary ciliary dyskinesiaLikely benign
(Aug 21, 2019)
criteria provided, single submitterVCV001103298
85.
GRCh37:
Chr5:13701398
GRCh38:
Chr5:13701289
DNAH5R4496*Primary ciliary dyskinesia, Ciliary dyskinesia, primary, 3, not provided
Pathogenic
(Sep 2, 2021)
criteria provided, multiple submitters, no conflictsVCV000407248
86.
GRCh37:
Chr5:13701403
GRCh38:
Chr5:13701294
DNAH5A4494VCiliary dyskinesia, primary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000905605
87.
GRCh37:
Chr5:13701409-13701427
GRCh38:
Chr5:13701300-13701318
DNAH5Primary ciliary dyskinesiaPathogenic
(Sep 20, 2020)
criteria provided, single submitterVCV001073620
88.
GRCh37:
Chr5:13701417
GRCh38:
Chr5:13701308
DNAH5Primary ciliary dyskinesia, not specified, Ciliary dyskinesia, primary, 3
Benign/Likely benign
(Dec 5, 2020)
criteria provided, multiple submitters, no conflictsVCV000238963
89.
GRCh37:
Chr5:13701422
GRCh38:
Chr5:13701313
DNAH5P4488Tnot specified, not provided, Primary ciliary dyskinesia,
Ciliary dyskinesia, primary, 3
Benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000226595
90.
GRCh37:
Chr5:13701423
GRCh38:
Chr5:13701314
DNAH5Primary ciliary dyskinesiaLikely benign
(Apr 12, 2020)
criteria provided, single submitterVCV001107595
91.
GRCh37:
Chr5:13701425-13701426
GRCh38:
Chr5:13701316-13701317
DNAH5N4487*Primary ciliary dyskinesia, Ciliary dyskinesia, primary, 3, not provided
Pathogenic/Likely pathogenic
(Oct 31, 2020)
criteria provided, multiple submitters, no conflictsVCV000350995
92.
GRCh37:
Chr5:13701432
GRCh38:
Chr5:13701323
DNAH5Primary ciliary dyskinesiaLikely benign
(Jul 18, 2019)
criteria provided, single submitterVCV001089438
93.
GRCh37:
Chr5:13701436
GRCh38:
Chr5:13701327
DNAH5T4483MPrimary ciliary dyskinesia, Ciliary dyskinesia, primary, 3Uncertain significance
(Jan 13, 2018)
criteria provided, multiple submitters, no conflictsVCV000454744
94.
GRCh37:
Chr5:13701441
GRCh38:
Chr5:13701332
DNAH5W4481*Primary ciliary dyskinesiaPathogenic
(Sep 8, 2019)
criteria provided, single submitterVCV000941715
95.
GRCh37:
Chr5:13701447
GRCh38:
Chr5:13701338
DNAH5Primary ciliary dyskinesia, Ciliary dyskinesia, primary, 3Conflicting interpretations of pathogenicity
(Nov 26, 2020)
criteria provided, conflicting interpretationsVCV000414354
96.
GRCh37:
Chr5:13701449-13701452
GRCh38:
Chr5:13701340-13701343
DNAH5H4478fsPrimary ciliary dyskinesiaPathogenic
(Oct 23, 2018)
criteria provided, single submitterVCV000656057
97.
GRCh37:
Chr5:13701458
GRCh38:
Chr5:13701349
DNAH5R4476*Primary ciliary dyskinesiaPathogenic
(Jun 28, 2019)
criteria provided, single submitterVCV000454743
98.
GRCh37:
Chr5:13701471
GRCh38:
Chr5:13701362
DNAH5W4471*not providedPathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915438
99.
GRCh37:
Chr5:13701474
GRCh38:
Chr5:13701365
DNAH5Primary ciliary dyskinesiaLikely benign
(Nov 21, 2020)
criteria provided, single submitterVCV000696242
100.
GRCh37:
Chr5:13701515
GRCh38:
Chr5:13701406
DNAH5W4457GCiliary dyskinesia, primary, 3Uncertain significance
(Mar 12, 2020)
criteria provided, single submitterVCV000931886
Format
Items per page
Sort by

Download:

Choose Destination
Support Center