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Items: 1 to 100 of 203

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr5:13807766
GRCh38:
Chr5:13807657
DNAH5Y2607*Primary ciliary dyskinesiaPathogenic
(Mar 19, 2020)
criteria provided, single submitterVCV001076690
2.
GRCh37:
Chr5:13721150
GRCh38:
Chr5:13721041
DNAH5E4080*Primary ciliary dyskinesiaPathogenic
(Mar 17, 2020)
criteria provided, single submitterVCV001076292
3.
GRCh37:
Chr5:13917356
GRCh38:
Chr5:13917247
DNAH5E329*Primary ciliary dyskinesiaPathogenic
(Apr 17, 2020)
criteria provided, single submitterVCV001076200
4.
GRCh37:
Chr5:13781069
GRCh38:
Chr5:13780960
DNAH5Primary ciliary dyskinesiaPathogenic
(Mar 21, 2018)
criteria provided, single submitterVCV001076155
5.
GRCh37:
Chr5:13809289
GRCh38:
Chr5:13809180
DNAH5W2539*Primary ciliary dyskinesiaPathogenic
(Feb 10, 2020)
criteria provided, single submitterVCV001075804
6.
GRCh37:
Chr5:13866361
GRCh38:
Chr5:13866252
DNAH5Q1362*Primary ciliary dyskinesiaPathogenic
(Jul 21, 2020)
criteria provided, single submitterVCV001075787
7.
GRCh37:
Chr5:13769167
GRCh38:
Chr5:13769058
DNAH5Q3267*Primary ciliary dyskinesiaPathogenic
(Sep 25, 2020)
criteria provided, single submitterVCV001075777
8.
DNAH5Primary ciliary dyskinesiaPathogenic
(Aug 21, 2019)
criteria provided, single submitterVCV001075618
9.
GRCh37:
Chr5:13817647-13820618
DNAH5Primary ciliary dyskinesiaPathogenic
(Sep 26, 2020)
criteria provided, single submitterVCV001075617
10.
DNAH5Primary ciliary dyskinesiaPathogenic
(Oct 14, 2020)
criteria provided, single submitterVCV001075616
11.
GRCh37:
Chr5:13762832
GRCh38:
Chr5:13762723
DNAH5K3427fsPrimary ciliary dyskinesiaPathogenic
(Mar 8, 2020)
criteria provided, single submitterVCV001075446
12.
GRCh37:
Chr5:13841191-13841192
GRCh38:
Chr5:13841082-13841083
DNAH5A1845fsPrimary ciliary dyskinesiaPathogenic
(Jun 9, 2020)
criteria provided, single submitterVCV001075414
13.
GRCh37:
Chr5:13914033-13914037
GRCh38:
Chr5:13913924-13913928
DNAH5Q451fsCiliary dyskinesia, primary, 3, Primary ciliary dyskinesiaPathogenic
(Aug 14, 2020)
criteria provided, single submitterVCV001075247
14.
GRCh37:
Chr5:13758997
GRCh38:
Chr5:13758888
DNAH5D3459fsPrimary ciliary dyskinesiaPathogenic
(Oct 7, 2020)
criteria provided, single submitterVCV001075057
15.
GRCh37:
Chr5:13885247
GRCh38:
Chr5:13885138
DNAH5K945fsPrimary ciliary dyskinesiaPathogenic
(Jul 29, 2020)
criteria provided, single submitterVCV001074880
16.
GRCh37:
Chr5:13886156
GRCh38:
Chr5:13886047
DNAH5L887*Primary ciliary dyskinesiaPathogenic
(May 6, 2020)
criteria provided, single submitterVCV001074838
17.
GRCh37:
Chr5:13871742
GRCh38:
Chr5:13871633
DNAH5Q1177*Primary ciliary dyskinesiaPathogenic
(Jul 31, 2020)
criteria provided, single submitterVCV001074724
18.
GRCh37:
Chr5:13708261
GRCh38:
Chr5:13708152
DNAH5D4437fsPrimary ciliary dyskinesiaPathogenic
(Aug 20, 2020)
criteria provided, single submitterVCV001074692
19.
GRCh37:
Chr5:13844973
GRCh38:
Chr5:13844864
DNAH5N1748fsPrimary ciliary dyskinesiaPathogenic
(Jun 27, 2020)
criteria provided, single submitterVCV001074379
20.
GRCh37:
Chr5:13714728-13714729
GRCh38:
Chr5:13714619-13714620
DNAH5Primary ciliary dyskinesiaPathogenic
(Mar 18, 2020)
criteria provided, single submitterVCV001074119
21.
GRCh37:
Chr5:13776641
GRCh38:
Chr5:13776532
DNAH5K3094*Primary ciliary dyskinesiaPathogenic
(May 22, 2020)
criteria provided, single submitterVCV001073922
22.
GRCh37:
Chr5:13820492
GRCh38:
Chr5:13820383
DNAH5T2269fsPrimary ciliary dyskinesiaPathogenic
(Jul 24, 2017)
criteria provided, single submitterVCV001073621
23.
GRCh37:
Chr5:13701409-13701427
GRCh38:
Chr5:13701300-13701318
DNAH5Primary ciliary dyskinesiaPathogenic
(Sep 20, 2020)
criteria provided, single submitterVCV001073620
24.
GRCh37:
Chr5:13810320-13810321
GRCh38:
Chr5:13810211-13810212
DNAH5F2486fsPrimary ciliary dyskinesiaPathogenic
(Jan 14, 2020)
criteria provided, single submitterVCV001073508
25.
GRCh37:
Chr5:13811755
GRCh38:
Chr5:13811646
DNAH5Primary ciliary dyskinesiaPathogenic
(Apr 24, 2020)
criteria provided, single submitterVCV001073312
26.
GRCh37:
Chr5:13769089
GRCh38:
Chr5:13768980
DNAH5E3293*Primary ciliary dyskinesiaPathogenic
(May 12, 2020)
criteria provided, single submitterVCV001073261
27.
GRCh37:
Chr5:13776556
GRCh38:
Chr5:13776447
DNAH5L3122*Primary ciliary dyskinesiaPathogenic
(Jan 10, 2020)
criteria provided, single submitterVCV001073241
28.
GRCh37:
Chr5:13810327-13810340
GRCh38:
Chr5:13810218-13810231
DNAH5L2480fsPrimary ciliary dyskinesiaPathogenic
(May 2, 2019)
criteria provided, single submitterVCV001073095
29.
GRCh37:
Chr5:13864505
GRCh38:
Chr5:13864396
DNAH5Primary ciliary dyskinesiaPathogenic
(Mar 20, 2020)
criteria provided, single submitterVCV001073093
30.
GRCh37:
Chr5:13883167
GRCh38:
Chr5:13883058
DNAH5L1007fsPrimary ciliary dyskinesiaPathogenic
(Jun 13, 2020)
criteria provided, single submitterVCV001073021
31.
GRCh37:
Chr5:13751270-13751271
GRCh38:
Chr5:13751161-13751162
DNAH5R3710fsPrimary ciliary dyskinesiaPathogenic
(Jun 9, 2020)
criteria provided, single submitterVCV001072914
32.
GRCh37:
Chr5:13792301
GRCh38:
Chr5:13792192
DNAH5C2750*Primary ciliary dyskinesiaPathogenic
(May 12, 2020)
criteria provided, single submitterVCV001072716
33.
GRCh37:
Chr5:13753389
GRCh38:
Chr5:13753280
DNAH5Q3609*Primary ciliary dyskinesiaPathogenic
(Aug 14, 2020)
criteria provided, single submitterVCV001072564
34.
GRCh37:
Chr5:13810249-13810250
GRCh38:
Chr5:13810140-13810141
DNAH5S2510fsPrimary ciliary dyskinesiaPathogenic
(Sep 24, 2020)
criteria provided, single submitterVCV001072370
35.
GRCh37:
Chr5:13920619
GRCh38:
Chr5:13920510
DNAH5C256*Primary ciliary dyskinesiaPathogenic
(Jul 21, 2020)
criteria provided, single submitterVCV001072335
36.
GRCh37:
Chr5:13917361
GRCh38:
Chr5:13917252
DNAH5W327*Primary ciliary dyskinesiaPathogenic
(Jun 1, 2020)
criteria provided, single submitterVCV001072105
37.
GRCh37:
Chr5:13753605-13753606
GRCh38:
Chr5:13753496-13753497
DNAH5E3537fsPrimary ciliary dyskinesiaPathogenic
(Aug 27, 2020)
criteria provided, single submitterVCV001071663
38.
GRCh37:
Chr5:13770923
GRCh38:
Chr5:13770814
DNAH5F3181fsPrimary ciliary dyskinesiaPathogenic
(Sep 6, 2020)
criteria provided, single submitterVCV001071536
39.
GRCh37:
Chr5:13923469-13923487
GRCh38:
Chr5:13923360-13923378
DNAH5F114fsPrimary ciliary dyskinesiaPathogenic
(Aug 23, 2020)
criteria provided, single submitterVCV001071263
40.
GRCh37:
Chr5:13862831-13862834
GRCh38:
Chr5:13862722-13862725
DNAH5K1540fsPrimary ciliary dyskinesiaPathogenic
(Jul 7, 2020)
criteria provided, single submitterVCV001071134
41.
GRCh37:
Chr5:13923451
GRCh38:
Chr5:13923342
DNAH5V126fsnot provided, Primary ciliary dyskinesiaPathogenic/Likely pathogenic
(Jul 31, 2020)
criteria provided, multiple submitters, no conflictsVCV001070752
42.
GRCh37:
Chr5:13914062
GRCh38:
Chr5:13913953
DNAH5Y442*Primary ciliary dyskinesiaPathogenic
(Jun 5, 2020)
criteria provided, single submitterVCV001070742
43.
GRCh37:
Chr5:13841851
GRCh38:
Chr5:13841742
DNAH5Q1812fsPrimary ciliary dyskinesiaPathogenic
(Aug 4, 2014)
criteria provided, single submitterVCV001070628
44.
GRCh37:
Chr5:13830885
GRCh38:
Chr5:13830776
DNAH5Primary ciliary dyskinesiaPathogenic
(Oct 20, 2020)
criteria provided, single submitterVCV001070599
45.
GRCh37:
Chr5:13771064
GRCh38:
Chr5:13770955
DNAH5Y3133*Primary ciliary dyskinesiaPathogenic
(Jun 21, 2020)
criteria provided, single submitterVCV001070339
46.
GRCh37:
Chr5:13830885
GRCh38:
Chr5:13830776
DNAH5Primary ciliary dyskinesiaPathogenic
(Sep 17, 2020)
criteria provided, single submitterVCV001070301
47.
GRCh37:
Chr5:13885329
GRCh38:
Chr5:13885220
DNAH5E918*Primary ciliary dyskinesiaPathogenic
(Apr 11, 2020)
criteria provided, single submitterVCV001070080
48.
GRCh37:
Chr5:13914008
GRCh38:
Chr5:13913899
DNAH5K460fsPrimary ciliary dyskinesiaPathogenic
(Apr 6, 2020)
criteria provided, single submitterVCV001069773
49.
GRCh37:
Chr5:13839578
GRCh38:
Chr5:13839469
DNAH5Y1923*Primary ciliary dyskinesiaPathogenic
(Oct 16, 2020)
criteria provided, single submitterVCV001069728
50.
GRCh37:
Chr5:13824302-13830890
DNAH5Primary ciliary dyskinesiaPathogenic
(Sep 9, 2016)
criteria provided, single submitterVCV001069563
51.
GRCh37:
Chr5:13844936-13845112
DNAH5Primary ciliary dyskinesiaPathogenic
(Feb 4, 2020)
criteria provided, single submitterVCV001069562
52.
GRCh37:
Chr5:13865931
GRCh38:
Chr5:13865822
DNAH5Q1401*Primary ciliary dyskinesiaPathogenic
(Oct 7, 2020)
criteria provided, single submitterVCV001069152
53.
GRCh37:
Chr5:13829815
GRCh38:
Chr5:13829706
DNAH5Primary ciliary dyskinesiaLikely pathogenic
(Aug 24, 2020)
criteria provided, single submitterVCV001068398
54.
GRCh37:
Chr5:13820454
GRCh38:
Chr5:13820345
DNAH5Primary ciliary dyskinesiaLikely pathogenic
(Mar 14, 2020)
criteria provided, single submitterVCV001068110
55.
GRCh37:
Chr5:13708231
GRCh38:
Chr5:13708122
DNAH5Primary ciliary dyskinesiaLikely pathogenic
(Oct 2, 2020)
criteria provided, single submitterVCV001067811
56.
GRCh37:
Chr5:13735925
GRCh38:
Chr5:13735816
DNAH5Primary ciliary dyskinesiaLikely pathogenic
(Oct 19, 2020)
criteria provided, single submitterVCV001067755
57.
DNAH5Primary ciliary dyskinesiaLikely pathogenic
(Sep 1, 2020)
criteria provided, single submitterVCV001067685
58.
DNAH5Primary ciliary dyskinesiaLikely pathogenic
(May 28, 2019)
criteria provided, single submitterVCV001067684
59.
GRCh37:
Chr5:13752242
GRCh38:
Chr5:13752133
DNAH5Primary ciliary dyskinesiaLikely pathogenic
(May 25, 2020)
criteria provided, single submitterVCV001067363
60.
GRCh37:
Chr5:13868103
GRCh38:
Chr5:13867994
DNAH5Primary ciliary dyskinesiaLikely pathogenic
(Feb 14, 2020)
criteria provided, single submitterVCV001067338
61.
GRCh37:
Chr5:13716594
GRCh38:
Chr5:13716485
DNAH5Primary ciliary dyskinesiaLikely pathogenic
(Mar 14, 2020)
criteria provided, single submitterVCV001067310
62.
GRCh37:
Chr5:13729538-13771099
DNAH5Primary ciliary dyskinesiaLikely pathogenic
(Jun 27, 2020)
criteria provided, single submitterVCV001066942
63.
GRCh37:
Chr5:13886063-13911612
DNAH5Primary ciliary dyskinesiaLikely pathogenic
(May 21, 2020)
criteria provided, single submitterVCV001066941
64.
GRCh37:
Chr5:13914069
GRCh38:
Chr5:13913960
DNAH5Primary ciliary dyskinesiaLikely pathogenic
(Jan 31, 2020)
criteria provided, single submitterVCV001066563
65.
GRCh37:
Chr5:13769068
GRCh38:
Chr5:13768959
DNAH5Primary ciliary dyskinesiaLikely pathogenic
(Aug 7, 2020)
criteria provided, single submitterVCV001066241
66.
GRCh37:
Chr5:13866392
GRCh38:
Chr5:13866283
DNAH5Primary ciliary dyskinesiaLikely pathogenic
(Mar 19, 2020)
criteria provided, single submitterVCV001066157
67.
GRCh37:
Chr5:13735238
GRCh38:
Chr5:13735129
DNAH5Primary ciliary dyskinesiaLikely pathogenic
(Mar 5, 2020)
criteria provided, single submitterVCV001066039
68.
GRCh37:
Chr5:13829755
GRCh38:
Chr5:13829646
DNAH5S2103*Primary ciliary dyskinesiaPathogenic/Likely pathogenic
(Oct 27, 2020)
criteria provided, multiple submitters, no conflictsVCV000977578
69.
GRCh37:
Chr5:13829618
GRCh38:
Chr5:13829509
DNAH5Primary ciliary dyskinesiaLikely pathogenic
(Feb 2, 2020)
criteria provided, single submitterVCV000970097
70.
GRCh37:
Chr5:13708411
GRCh38:
Chr5:13708302
DNAH5Q4387*Primary ciliary dyskinesiaPathogenic
(Nov 15, 2019)
criteria provided, single submitterVCV000970016
71.
GRCh37:
Chr5:13777351
GRCh38:
Chr5:13777242
DNAH5S3022*Primary ciliary dyskinesiaPathogenic
(Sep 2, 2020)
criteria provided, single submitterVCV000968888
72.
GRCh37:
Chr5:13811887
GRCh38:
Chr5:13811778
DNAH5Q2426*Primary ciliary dyskinesiaPathogenic
(Jul 30, 2019)
criteria provided, single submitterVCV000964432
73.
GRCh37:
Chr5:13914015
GRCh38:
Chr5:13913906
DNAH5N458fsPrimary ciliary dyskinesiaPathogenic
(Jul 30, 2019)
criteria provided, single submitterVCV000964431
74.
GRCh37:
Chr5:13737553
GRCh38:
Chr5:13737444
DNAH5, LOC107457585R3755*Primary ciliary dyskinesiaPathogenic
(Mar 16, 2020)
criteria provided, single submitterVCV000961693
75.
GRCh37:
Chr5:13882840
GRCh38:
Chr5:13882731
DNAH5Q1087*Primary ciliary dyskinesiaPathogenic
(Nov 9, 2019)
criteria provided, single submitterVCV000959237
76.
GRCh37:
Chr5:13841066
GRCh38:
Chr5:13840957
DNAH5Y1886*Primary ciliary dyskinesiaPathogenic
(Oct 24, 2019)
criteria provided, single submitterVCV000958471
77.
GRCh37:
Chr5:13792166
GRCh38:
Chr5:13792057
DNAH5D2796fsPrimary ciliary dyskinesiaPathogenic
(Nov 15, 2019)
criteria provided, single submitterVCV000958051
78.
GRCh37:
Chr5:13894932
GRCh38:
Chr5:13894823
DNAH5Primary ciliary dyskinesiaLikely pathogenic
(Oct 20, 2019)
criteria provided, single submitterVCV000954807
79.
GRCh37:
Chr5:13900510-13900539
GRCh38:
Chr5:13900401-13900430
DNAH5Primary ciliary dyskinesiaPathogenic
(Aug 25, 2019)
criteria provided, single submitterVCV000954624
80.
GRCh37:
Chr5:13824444
GRCh38:
Chr5:13824335
DNAH5Primary ciliary dyskinesiaLikely pathogenic
(Sep 23, 2019)
criteria provided, single submitterVCV000954562
81.
GRCh37:
Chr5:13920717
GRCh38:
Chr5:13920608
DNAH5R224*Primary ciliary dyskinesiaPathogenic
(Aug 14, 2020)
criteria provided, single submitterVCV000954107
82.
GRCh37:
Chr5:13885239-13885242
GRCh38:
Chr5:13885130-13885133
DNAH5E947fsPrimary ciliary dyskinesiaPathogenic
(Nov 16, 2019)
criteria provided, single submitterVCV000953299
83.
GRCh37:
Chr5:13721281
GRCh38:
Chr5:13721172
DNAH5W4036*Ciliary dyskinesia, primary, 3, Primary ciliary dyskinesiaPathogenic/Likely pathogenic
(Aug 30, 2019)
criteria provided, multiple submitters, no conflictsVCV000953233
84.
GRCh37:
Chr5:13777450
GRCh38:
Chr5:13777341
DNAH5S2989*Primary ciliary dyskinesiaPathogenic
(Aug 7, 2019)
criteria provided, single submitterVCV000953205
85.
GRCh37:
Chr5:13919374
GRCh38:
Chr5:13919265
DNAH5K296*Primary ciliary dyskinesiaPathogenic
(Jun 13, 2019)
criteria provided, single submitterVCV000952727
86.
GRCh37:
Chr5:13786321-13786322
GRCh38:
Chr5:13786212-13786213
DNAH5F2930fsPrimary ciliary dyskinesiaPathogenic
(May 5, 2019)
criteria provided, single submitterVCV000952589
87.
GRCh37:
Chr5:13928288
GRCh38:
Chr5:13928179
DNAH5Primary ciliary dyskinesiaLikely pathogenic
(Jun 20, 2019)
criteria provided, single submitterVCV000951636
88.
GRCh37:
Chr5:13868024
GRCh38:
Chr5:13867915
DNAH5Y1304*Primary ciliary dyskinesiaPathogenic
(Jul 10, 2019)
criteria provided, single submitterVCV000949718
89.
GRCh37:
Chr5:13716692
GRCh38:
Chr5:13716583
DNAH5W4271*Primary ciliary dyskinesiaPathogenic
(Apr 10, 2019)
criteria provided, single submitterVCV000948603
90.
GRCh37:
Chr5:13901363
GRCh38:
Chr5:13901254
DNAH5Q684*Primary ciliary dyskinesiaPathogenic
(Aug 18, 2019)
criteria provided, single submitterVCV000948524
91.
GRCh37:
Chr5:13721164
GRCh38:
Chr5:13721055
DNAH5M4075fsPrimary ciliary dyskinesiaPathogenic
(Aug 20, 2019)
criteria provided, single submitterVCV000948013
92.
GRCh37:
Chr5:13931354
GRCh38:
Chr5:13931245
DNAH5Primary ciliary dyskinesiaLikely pathogenic
(Jun 17, 2019)
criteria provided, single submitterVCV000947532
93.
GRCh37:
Chr5:13727708
GRCh38:
Chr5:13727599
DNAH5E3981*Primary ciliary dyskinesiaPathogenic
(Apr 10, 2019)
criteria provided, single submitterVCV000947457
94.
GRCh37:
Chr5:13810296-13810297
GRCh38:
Chr5:13810187-13810188
DNAH5A2494fsPrimary ciliary dyskinesiaPathogenic
(Jul 10, 2019)
criteria provided, single submitterVCV000946438
95.
GRCh37:
Chr5:13735961
GRCh38:
Chr5:13735852
DNAH5Q3846*Primary ciliary dyskinesiaPathogenic
(Jul 21, 2020)
criteria provided, single submitterVCV000944438
96.
GRCh37:
Chr5:13769188
GRCh38:
Chr5:13769079
DNAH5Q3260*not provided, Primary ciliary dyskinesiaPathogenic
(Jul 8, 2019)
criteria provided, single submitterVCV000943165
97.
GRCh37:
Chr5:13794169
GRCh38:
Chr5:13794060
DNAH5Primary ciliary dyskinesiaLikely pathogenic
(Jun 26, 2019)
criteria provided, single submitterVCV000942784
98.
GRCh37:
Chr5:13701441
GRCh38:
Chr5:13701332
DNAH5W4481*Primary ciliary dyskinesiaPathogenic
(Sep 8, 2019)
criteria provided, single submitterVCV000941715
99.
GRCh37:
Chr5:13718995
GRCh38:
Chr5:13718886
DNAH5Y4165*Primary ciliary dyskinesiaPathogenic
(Sep 1, 2019)
criteria provided, single submitterVCV000941016
100.
GRCh37:
Chr5:13752245
GRCh38:
Chr5:13752136
DNAH5K3676*Primary ciliary dyskinesiaPathogenic
(Aug 1, 2019)
criteria provided, single submitterVCV000940958
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