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Items: 1 to 100 of 1781

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr7:21582516
GRCh38:
Chr7:21542898
DNAH11not providedBenign
(Nov 10, 2018)
criteria provided, single submitterVCV001260798
2.
GRCh37:
Chr7:21582728
GRCh38:
Chr7:21543110
DNAH11not providedBenign
(Jan 29, 2021)
criteria provided, single submitterVCV001264662
3.
GRCh37:
Chr7:21582745
GRCh38:
Chr7:21543127
DNAH11not providedLikely benign
(Jun 9, 2019)
criteria provided, single submitterVCV001183790
4.
GRCh37:
Chr7:21582837
GRCh38:
Chr7:21543219
DNAH11not provided, Primary ciliary dyskinesiaConflicting interpretations of pathogenicity
(Aug 10, 2019)
criteria provided, conflicting interpretationsVCV000359593
5.
GRCh37:
Chr7:21582850
GRCh38:
Chr7:21543232
DNAH11not specifiedLikely benigncriteria provided, single submitterVCV000257842
6.
GRCh37:
Chr7:21582864
GRCh38:
Chr7:21543246
DNAH11M1VPrimary ciliary dyskinesiaLikely pathogenic
(Apr 13, 2020)
criteria provided, single submitterVCV000454666
7.
GRCh37:
Chr7:21582865
GRCh38:
Chr7:21543247
DNAH11M1Rnot providedLikely pathogenic
(Mar 1, 2017)
criteria provided, single submitterVCV000444714
8.
GRCh37:
Chr7:21582882
GRCh38:
Chr7:21543264
DNAH11A7TPrimary ciliary dyskinesiaUncertain significance
(Aug 28, 2016)
criteria provided, single submitterVCV000410836
9.
GRCh37:
Chr7:21582895
GRCh38:
Chr7:21543277
DNAH11R11QPrimary ciliary dyskinesiaUncertain significance
(Mar 10, 2020)
criteria provided, single submitterVCV001016210
10.
GRCh37:
Chr7:21582917
GRCh38:
Chr7:21543299
DNAH11not specified, Primary ciliary dyskinesia, not provided
Benign/Likely benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000178721
11.
GRCh37:
Chr7:21582921
GRCh38:
Chr7:21543303
DNAH11R20Snot provided, Primary ciliary dyskinesia, not specified
Conflicting interpretations of pathogenicity
(Oct 30, 2020)
criteria provided, conflicting interpretationsVCV000218583
12.
GRCh37:
Chr7:21582928
GRCh38:
Chr7:21543310
DNAH11T22IPrimary ciliary dyskinesiaUncertain significance
(Jun 22, 2018)
criteria provided, single submitterVCV000580981
13.
GRCh37:
Chr7:21582931
GRCh38:
Chr7:21543313
DNAH11S23Lnot specifiedUncertain significance
(Jul 28, 2016)
criteria provided, single submitterVCV000505254
14.
GRCh37:
Chr7:21582956
GRCh38:
Chr7:21543338
DNAH11not provided, Primary ciliary dyskinesiaLikely benign
(Apr 27, 2018)
criteria provided, single submitterVCV000743816
15.
GRCh37:
Chr7:21582960
GRCh38:
Chr7:21543342
DNAH11V33MPrimary ciliary dyskinesiaUncertain significance
(Mar 13, 2019)
criteria provided, single submitterVCV000835833
16.
GRCh37:
Chr7:21582963-21582964
GRCh38:
Chr7:21543345-21543346
DNAH11E34LPrimary ciliary dyskinesia, not specifiedBenign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000093682
17.
GRCh37:
Chr7:21582963
GRCh38:
Chr7:21543345
DNAH11E34*Ciliary dyskinesia, primary, 7, not specified, Primary ciliary dyskinesia,
not provided
Benign
(Jul 30, 2021)
criteria provided, multiple submitters, no conflictsVCV000093681
18.
GRCh37:
Chr7:21582964
GRCh38:
Chr7:21543346
DNAH11E34VPrimary ciliary dyskinesia, not specified, not provided,
Ciliary dyskinesia, primary, 7
Benign
(Jul 30, 2021)
criteria provided, multiple submitters, no conflictsVCV000093683
19.
GRCh37:
Chr7:21582967
GRCh38:
Chr7:21543349
DNAH11L35RPrimary ciliary dyskinesiaUncertain significance
(May 4, 2020)
criteria provided, single submitterVCV001008083
20.
GRCh37:
Chr7:21582969
GRCh38:
Chr7:21543351
DNAH11E36QPrimary ciliary dyskinesiaUncertain significance
(Nov 28, 2019)
criteria provided, single submitterVCV000581899
21.
GRCh37:
Chr7:21582969-21582971
GRCh38:
Chr7:21543351-21543353
DNAH11E40delPrimary ciliary dyskinesiaBenign
(Apr 6, 2017)
criteria provided, single submitterVCV000454643
22.
GRCh37:
Chr7:21582977-21582978
GRCh38:
Chr7:21543359-21543360
DNAH11Primary ciliary dyskinesiaUncertain significance
(Dec 3, 2018)
criteria provided, single submitterVCV000640326
23.
GRCh37:
Chr7:21582987-21582989
GRCh38:
Chr7:21543369-21543371
DNAH11E44delPrimary ciliary dyskinesiaUncertain significance
(Mar 19, 2019)
criteria provided, single submitterVCV000850095
24.
GRCh37:
Chr7:21582989
GRCh38:
Chr7:21543371
DNAH11not provided, Primary ciliary dyskinesiaConflicting interpretations of pathogenicity
(Jan 21, 2020)
criteria provided, conflicting interpretationsVCV000238895
25.
GRCh37:
Chr7:21582990
GRCh38:
Chr7:21543372
DNAH11E43QPrimary ciliary dyskinesiaUncertain significance
(Jun 22, 2016)
criteria provided, single submitterVCV001052580
26.
GRCh37:
Chr7:21582996
GRCh38:
Chr7:21543378
DNAH11A45TPrimary ciliary dyskinesiaUncertain significance
(Jun 16, 2019)
criteria provided, single submitterVCV000935603
27.
GRCh37:
Chr7:21583015
GRCh38:
Chr7:21543397
DNAH11R51QPrimary ciliary dyskinesiaUncertain significance
(Oct 21, 2016)
criteria provided, single submitterVCV000410847
28.
GRCh37:
Chr7:21583031
GRCh38:
Chr7:21543413
DNAH11D56EPrimary ciliary dyskinesiaUncertain significance
(Oct 21, 2019)
criteria provided, single submitterVCV000963569
29.
GRCh37:
Chr7:21583042
GRCh38:
Chr7:21543424
DNAH11R60PPrimary ciliary dyskinesiaUncertain significance
(Aug 27, 2020)
criteria provided, single submitterVCV000410866
30.
GRCh37:
Chr7:21583043
GRCh38:
Chr7:21543425
DNAH11not provided, Primary ciliary dyskinesiaConflicting interpretations of pathogenicity
(Sep 15, 2018)
criteria provided, conflicting interpretationsVCV000359594
31.
GRCh37:
Chr7:21583046
GRCh38:
Chr7:21543428
DNAH11Primary ciliary dyskinesiaBenign
(Feb 14, 2019)
criteria provided, single submitterVCV001164318
32.
GRCh37:
Chr7:21583048
GRCh38:
Chr7:21543430
DNAH11L62PPrimary ciliary dyskinesiaUncertain significance
(Oct 24, 2018)
criteria provided, single submitterVCV000652360
33.
GRCh37:
Chr7:21583051
GRCh38:
Chr7:21543433
DNAH11G63Anot specified, Primary ciliary dyskinesiaBenign
(Sep 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000257876
34.
GRCh37:
Chr7:21583058
GRCh38:
Chr7:21543440
DNAH11Primary ciliary dyskinesiaLikely benign
(Jul 24, 2020)
criteria provided, single submitterVCV000525553
35.
GRCh37:
Chr7:21583076
GRCh38:
Chr7:21543458
DNAH11Primary ciliary dyskinesiaLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000525512
36.
GRCh37:
Chr7:21583097
GRCh38:
Chr7:21543479
DNAH11S78RPrimary ciliary dyskinesiaUncertain significance
(Jul 9, 2020)
criteria provided, single submitterVCV001024427
37.
GRCh37:
Chr7:21583133
GRCh38:
Chr7:21543515
DNAH11Primary ciliary dyskinesiaLikely benign
(Nov 6, 2020)
criteria provided, single submitterVCV001154565
38.
GRCh37:
Chr7:21583148
GRCh38:
Chr7:21543530
DNAH11Primary ciliary dyskinesiaLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV001152868
39.
GRCh37:
Chr7:21583151
GRCh38:
Chr7:21543533
DNAH11Primary ciliary dyskinesiaLikely benign
(Feb 8, 2019)
criteria provided, single submitterVCV001155886
40.
GRCh37:
Chr7:21583160
GRCh38:
Chr7:21543542
DNAH11not specifiedLikely benigncriteria provided, single submitterVCV000257880
41.
GRCh37:
Chr7:21583182
GRCh38:
Chr7:21543564
DNAH11A107TPrimary ciliary dyskinesiaUncertain significance
(Oct 24, 2018)
criteria provided, single submitterVCV000660491
42.
GRCh37:
Chr7:21583201
GRCh38:
Chr7:21543583
DNAH11A113EPrimary ciliary dyskinesiaUncertain significance
(Jan 29, 2016)
criteria provided, single submitterVCV000238911
43.
GRCh37:
Chr7:21583209
GRCh38:
Chr7:21543591
DNAH11Q116ECiliary dyskinesia, primary, 7Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000911969
44.
GRCh37:
Chr7:21583220
GRCh38:
Chr7:21543602
DNAH11Primary ciliary dyskinesiaUncertain significance
(Feb 25, 2019)
criteria provided, single submitterVCV000862898
45.
GRCh37:
Chr7:21583282
GRCh38:
Chr7:21543664
DNAH11not providedBenign
(May 6, 2019)
criteria provided, single submitterVCV001183705
46.
GRCh37:
Chr7:21583329
GRCh38:
Chr7:21543711
DNAH11not providedBenign
(Nov 11, 2018)
criteria provided, single submitterVCV001262942
47.
GRCh37:
Chr7:21583503
GRCh38:
Chr7:21543885
DNAH11not providedLikely benign
(Oct 31, 2019)
criteria provided, single submitterVCV001207260
48.
GRCh37:
Chr7:21583519
GRCh38:
Chr7:21543901
DNAH11not providedBenign
(Nov 11, 2018)
criteria provided, single submitterVCV001271262
49.
GRCh37:
Chr7:21584302
GRCh38:
Chr7:21544684
DNAH11not providedBenign
(Nov 10, 2018)
criteria provided, single submitterVCV001251706
50.
GRCh37:
Chr7:21584382
GRCh38:
Chr7:21544764
DNAH11not providedBenign
(Sep 7, 2019)
criteria provided, single submitterVCV001222748
51.
GRCh37:
Chr7:21584432
GRCh38:
Chr7:21544814
DNAH11not providedBenign
(Nov 11, 2018)
criteria provided, single submitterVCV001237724
52.
GRCh37:
Chr7:21584615
GRCh38:
Chr7:21544997
DNAH11Primary ciliary dyskinesiaBenign
(Aug 11, 2019)
criteria provided, single submitterVCV000454671
53.
GRCh37:
Chr7:21584627
GRCh38:
Chr7:21545009
DNAH11P119APrimary ciliary dyskinesiaUncertain significance
(Jan 17, 2018)
criteria provided, single submitterVCV000581671
54.
GRCh37:
Chr7:21584641
GRCh38:
Chr7:21545023
DNAH11Primary ciliary dyskinesiaLikely benign
(Apr 3, 2019)
criteria provided, single submitterVCV001118023
55.
GRCh37:
Chr7:21584667
GRCh38:
Chr7:21545049
DNAH11K132RPrimary ciliary dyskinesia, Ciliary dyskinesia, primary, 7Uncertain significance
(Nov 18, 2019)
criteria provided, multiple submitters, no conflictsVCV000911970
56.
GRCh37:
Chr7:21584684
GRCh38:
Chr7:21545066
DNAH11G138RPrimary ciliary dyskinesiaUncertain significance
(May 12, 2019)
criteria provided, single submitterVCV000947199
57.
GRCh37:
Chr7:21584689
GRCh38:
Chr7:21545071
DNAH11not provided, Primary ciliary dyskinesiaLikely benign
(Oct 15, 2018)
criteria provided, single submitterVCV000792761
58.
GRCh37:
Chr7:21584693
GRCh38:
Chr7:21545075
DNAH11D141Ynot specified, not provided, Primary ciliary dyskinesia
Benign/Likely benign
(Jan 29, 2021)
criteria provided, multiple submitters, no conflictsVCV000257892
59.
GRCh37:
Chr7:21584716
GRCh38:
Chr7:21545098
DNAH11Primary ciliary dyskinesiaLikely benign
(Dec 22, 2017)
criteria provided, single submitterVCV000525558
60.
GRCh37:
Chr7:21584719
GRCh38:
Chr7:21545101
DNAH11Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000359595
61.
GRCh37:
Chr7:21584730
GRCh38:
Chr7:21545112
DNAH11A153VPrimary ciliary dyskinesiaUncertain significance
(Oct 3, 2018)
criteria provided, single submitterVCV000664930
62.
GRCh37:
Chr7:21584731
GRCh38:
Chr7:21545113
DNAH11Primary ciliary dyskinesia, not providedLikely benign
(Nov 9, 2018)
criteria provided, single submitterVCV000698069
63.
GRCh37:
Chr7:21584738
GRCh38:
Chr7:21545120
DNAH11L156VPrimary ciliary dyskinesiaUncertain significance
(Aug 22, 2019)
criteria provided, single submitterVCV000958742
64.
GRCh37:
Chr7:21584742
GRCh38:
Chr7:21545124
DNAH11G157Enot specified, Primary ciliary dyskinesiaConflicting interpretations of pathogenicity
(Dec 31, 2019)
criteria provided, conflicting interpretationsVCV000163093
65.
GRCh37:
Chr7:21584744
GRCh38:
Chr7:21545126
DNAH11H158YPrimary ciliary dyskinesiaUncertain significance
(Apr 3, 2020)
criteria provided, single submitterVCV000939832
66.
GRCh37:
Chr7:21584752
GRCh38:
Chr7:21545134
DNAH11Ciliary dyskinesia, primary, 7Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000909039
67.
GRCh37:
Chr7:21584765
GRCh38:
Chr7:21545147
DNAH11E165KPrimary ciliary dyskinesiaUncertain significance
(Dec 11, 2019)
criteria provided, single submitterVCV000844866
68.
GRCh37:
Chr7:21584820
GRCh38:
Chr7:21545202
DNAH11not providedBenign
(Nov 11, 2018)
criteria provided, single submitterVCV001246666
69.
GRCh37:
Chr7:21585091
GRCh38:
Chr7:21545473
DNAH11not providedBenign
(Nov 11, 2018)
criteria provided, single submitterVCV001279529
70.
GRCh37:
Chr7:21598254
GRCh38:
Chr7:21558636
DNAH11not providedBenign
(Nov 27, 2018)
criteria provided, single submitterVCV001274926
71.
GRCh37:
Chr7:21598312-21598313
GRCh38:
Chr7:21558694-21558695
DNAH11not providedBenign
(Sep 23, 2019)
criteria provided, single submitterVCV001290587
72.
GRCh37:
Chr7:21598410
GRCh38:
Chr7:21558792
DNAH11Ciliary dyskinesia, primary, 7Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000909040
73.
GRCh37:
Chr7:21598415
GRCh38:
Chr7:21558797
DNAH11Primary ciliary dyskinesiaLikely benign
(Nov 20, 2020)
criteria provided, single submitterVCV001139646
74.
GRCh37:
Chr7:21598420
GRCh38:
Chr7:21558802
DNAH11I166VPrimary ciliary dyskinesiaUncertain significance
(Dec 5, 2019)
criteria provided, single submitterVCV000856864
75.
GRCh37:
Chr7:21598470
GRCh38:
Chr7:21558852
DNAH11C182*Primary ciliary dyskinesiaPathogenic
(Jul 27, 2017)
criteria provided, single submitterVCV000454685
76.
GRCh37:
Chr7:21598479
GRCh38:
Chr7:21558861
DNAH11not specified, Primary ciliary dyskinesiaBenign
(Nov 11, 2020)
criteria provided, multiple submitters, no conflictsVCV000257910
77.
GRCh37:
Chr7:21598487
GRCh38:
Chr7:21558869
DNAH11M188RPrimary ciliary dyskinesiaUncertain significance
(Jan 3, 2020)
criteria provided, single submitterVCV000238925
78.
GRCh37:
Chr7:21598493
GRCh38:
Chr7:21558875
DNAH11Y190FPrimary ciliary dyskinesiaUncertain significance
(Aug 25, 2020)
criteria provided, multiple submitters, no conflictsVCV000359596
79.
GRCh37:
Chr7:21598495
GRCh38:
Chr7:21558877
DNAH11H191Ynot provided, Primary ciliary dyskinesiaUncertain significance
(Jul 21, 2020)
criteria provided, multiple submitters, no conflictsVCV000284312
80.
GRCh37:
Chr7:21598500
GRCh38:
Chr7:21558882
DNAH11I192Mnot provided, Primary ciliary dyskinesia, not specified
Benign/Likely benign
(Nov 7, 2020)
criteria provided, multiple submitters, no conflictsVCV000163094
81.
GRCh37:
Chr7:21598513-21598515
GRCh38:
Chr7:21558895-21558897
DNAH11K198delPrimary ciliary dyskinesiaUncertain significance
(May 8, 2019)
criteria provided, single submitterVCV000654383
82.
GRCh37:
Chr7:21598518
GRCh38:
Chr7:21558900
DNAH11K198NPrimary ciliary dyskinesiaUncertain significance
(Dec 27, 2017)
criteria provided, single submitterVCV000525393
83.
GRCh37:
Chr7:21598533
GRCh38:
Chr7:21558915
DNAH11Primary ciliary dyskinesiaLikely benign
(Dec 11, 2019)
criteria provided, single submitterVCV001149399
84.
GRCh37:
Chr7:21598536
GRCh38:
Chr7:21558918
DNAH11Primary ciliary dyskinesiaLikely benign
(Sep 28, 2019)
criteria provided, single submitterVCV000525467
85.
GRCh37:
Chr7:21598542
GRCh38:
Chr7:21558924
DNAH11M206IPrimary ciliary dyskinesiaLikely benign
(Nov 26, 2019)
criteria provided, single submitterVCV000643250
86.
GRCh37:
Chr7:21598560
GRCh38:
Chr7:21558942
DNAH11Primary ciliary dyskinesiaLikely benign
(Aug 14, 2017)
criteria provided, single submitterVCV000454697
87.
GRCh37:
Chr7:21598564
GRCh38:
Chr7:21558946
DNAH11I214Vnot provided, not specified, Primary ciliary dyskinesia
Conflicting interpretations of pathogenicity
(Nov 25, 2020)
criteria provided, conflicting interpretationsVCV000166998
88.
GRCh37:
Chr7:21598571
GRCh38:
Chr7:21558953
DNAH11T216IPrimary ciliary dyskinesiaUncertain significance
(Jul 3, 2017)
criteria provided, single submitterVCV000454698
89.
GRCh37:
Chr7:21598585
GRCh38:
Chr7:21558967
DNAH11M221LPrimary ciliary dyskinesia, not specifiedConflicting interpretations of pathogenicity
(Dec 31, 2019)
criteria provided, conflicting interpretationsVCV000215427
90.
GRCh37:
Chr7:21598604
GRCh38:
Chr7:21558986
DNAH11C227SPrimary ciliary dyskinesiaLikely benign
(May 9, 2019)
criteria provided, single submitterVCV000410854
91.
GRCh37:
Chr7:21598608
GRCh38:
Chr7:21558990
DNAH11Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000359597
92.
GRCh37:
Chr7:21598753
GRCh38:
Chr7:21559135
DNAH11not providedBenign
(Nov 27, 2018)
criteria provided, single submitterVCV001278682
93.
GRCh37:
Chr7:21599207
GRCh38:
Chr7:21559589
DNAH11Ciliary dyskinesia, primary, 7Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000909899
94.
GRCh37:
Chr7:21599212
GRCh38:
Chr7:21559594
DNAH11Primary ciliary dyskinesia, not specifiedBenign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000221199
95.
GRCh37:
Chr7:21599223
GRCh38:
Chr7:21559605
DNAH11P232Lnot provided, Primary ciliary dyskinesiaUncertain significance
(Feb 11, 2020)
criteria provided, multiple submitters, no conflictsVCV000359598
96.
GRCh37:
Chr7:21599226
GRCh38:
Chr7:21559608
DNAH11P233Lnot providedUncertain significance
(Feb 27, 2017)
criteria provided, single submitterVCV000636362
97.
GRCh37:
Chr7:21599227
GRCh38:
Chr7:21559609
DNAH11Primary ciliary dyskinesiaLikely benign
(Jun 16, 2017)
criteria provided, single submitterVCV000454699
98.
GRCh37:
Chr7:21599233
GRCh38:
Chr7:21559615
DNAH11Ciliary dyskinesia, primary, 7, not specified, Primary ciliary dyskinesia,
not provided
Benign
(Jul 30, 2021)
criteria provided, multiple submitters, no conflictsVCV000093693
99.
GRCh37:
Chr7:21599250
GRCh38:
Chr7:21559632
DNAH11H241RPrimary ciliary dyskinesiaUncertain significance
(Oct 30, 2020)
criteria provided, single submitterVCV000846530
100.
GRCh37:
Chr7:21599255
GRCh38:
Chr7:21559637
DNAH11I243VCiliary dyskinesia, primary, 7, Primary ciliary dyskinesiaConflicting interpretations of pathogenicity
(Dec 31, 2019)
criteria provided, conflicting interpretationsVCV000696975
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