A total 1591 pathogenic variants reported in gene dynein axonemal heavy chain 5 (DNAH5)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001369.3(DNAH5):c.10555G>C (p.Gly3519Arg) SNV
Germline		 Chr5:13754203 Likely pathogenic Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Single Submitter
 CA253865 rs_79967166

2 SubmittersRCV000006851RCV001851706
NM_001369.3(DNAH5):c.1828C>T (p.Gln610Ter) SNV
Germline		 Chr5:13901476 Pathogenic Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA253866 rs_121908853

3 SubmittersRCV000006853RCV001851707
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr) SNV
Germline		 Chr5:13916424 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA261198 rs_147499872

14 SubmittersRCV000032855RCV000228082RCV000523858
NM_001369.3(DNAH5):c.3139G>A (p.Gly1047Arg) SNV
Germline		 Chr5:13882939 Pathogenic Primary ciliary dyskinesia 3 No Assertion Criteria Provided
 CA3204385 rs_751785066

1 SubmittersRCV000032856
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr) SNV
Germline		 Chr5:13902053 Pathogenic/Likely pathogenic Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
Condition: not provided
Respiratory ciliopathies including non-CF bronchiectasis
Lung cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA344956 rs_397515541

9 SubmittersRCV000055850RCV000629262RCV004700356RCV005430957RCV005890376
NM_001369.3(DNAH5):c.11322C>T (p.Ser3774=) SNV
Germline		 Chr5:13737385 Conflicting classifications of pathogenicity Condition: not provided
Primary ciliary dyskinesia
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA246964 rs_267600357

4 SubmittersRCV000179659RCV001485650RCV003905034
NM_001369.3(DNAH5):c.1612G>A (p.Glu538Lys) SNV
Germline		 Chr5:13911418 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204801 rs_141651575

3 SubmittersRCV000689176
NM_001369.3(DNAH5):c.11570+124G>C SNV
Germline		 Chr5:13735694 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3 No Assertion Criteria Provided
 CA269992 rs_543104462

2 SubmittersRCV000128825
NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu) SNV
Germline		 Chr5:13700794 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA175767 rs_151080414

9 SubmittersRCV000150462RCV000372628RCV001094952
NM_001369.3(DNAH5):c.8387A>G (p.Asp2796Gly) SNV
Germline		 Chr5:13792055 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA175781 rs_727502974

3 SubmittersRCV000150471RCV000469527
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys) SNV
Germline		 Chr5:13871648 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA175797 rs_141168110

11 SubmittersRCV000150483RCV000199834RCV000667191RCV002292476
NM_001369.3(DNAH5):c.1356G>A (p.Lys452=) SNV
Germline		 Chr5:13913923 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA182949 rs_144748846

6 SubmittersRCV000155517RCV000470704RCV001156731
NM_001369.3(DNAH5):c.624C>T (p.Asn208=) SNV
Germline		 Chr5:13922143 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA182951 rs_139640247

9 SubmittersRCV000155518RCV000204645RCV001095091RCV001553168
NM_001369.3(DNAH5):c.8642C>G (p.Ala2881Gly) SNV
Germline		 Chr5:13788721 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3
Respiratory ciliopathies including non-CF bronchiectasis		 Criteria Provided
Conflicting Classifications
 CA175780 rs_727502973

6 SubmittersRCV000556876RCV004783753RCV005031658RCV005431495
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro) SNV
Germline		 Chr5:13810166 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA184953 rs_78853309

10 SubmittersRCV000156495RCV000556129RCV000778752RCV002510797
NM_001369.3(DNAH5):c.6731A>T (p.Lys2244Met) SNV
Germline		 Chr5:13820456 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA182931 rs_187023993

6 SubmittersRCV000155508RCV000205957RCV002498755RCV006277721
NM_001369.3(DNAH5):c.5485-11A>G SNV
Germline		 Chr5:13841141 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA175792 rs_372860402

2 SubmittersRCV000150479RCV002516023
NM_001369.3(DNAH5):c.9218A>G (p.Tyr3073Cys) SNV
Germline		 Chr5:13776594 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA334731 rs_138505566

3 SubmittersRCV000168403
NM_001369.3(DNAH5):c.8998C>T (p.Arg3000Ter) SNV
Germline		 Chr5:13777309 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Condition: not provided
DNAH5-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA334769 rs_769054713

4 SubmittersRCV000168445RCV003221832RCV004742300
NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp) SNV
Germline		 Chr5:13786242 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
not specified
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA203161 rs_115776799

10 SubmittersRCV000168402RCV000179101RCV001095072RCV003436964
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp) SNV
Germline		 Chr5:13793948 Conflicting classifications of pathogenicity not specified
Condition: not provided
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA334386 rs_148720124

10 SubmittersRCV000218415RCV000766289RCV000665929RCV001030822RCV004742299
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys) SNV
Germline		 Chr5:13914634 Conflicting classifications of pathogenicity not specified
Condition: not provided
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA239195 rs_140782270

14 SubmittersRCV000219496RCV000724138RCV000665936RCV001083198
NM_001369.3(DNAH5):c.1251C>T (p.Thr417=) SNV
Germline		 Chr5:13914589 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA200693 rs_112911055

5 SubmittersRCV000173738RCV000861759RCV001151284
NM_001369.3(DNAH5):c.1585C>T (p.Arg529Trp) SNV
Germline		 Chr5:13911445 Conflicting classifications of pathogenicity Condition: not provided
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA239818 rs_200452908

4 SubmittersRCV000174297RCV000463597
NM_001369.3(DNAH5):c.1955G>A (p.Ser652Asn) SNV
Germline		 Chr5:13901349 Conflicting classifications of pathogenicity Condition: not provided
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA240289 rs_749126116

4 SubmittersRCV000174718RCV000820524
NM_001369.3(DNAH5):c.3734G>A (p.Arg1245His) SNV
Germline		 Chr5:13870867 Conflicting classifications of pathogenicity Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA242429 rs_77939839

7 SubmittersRCV000176468RCV001086388RCV001156529RCV003927625
NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr) SNV
Germline		 Chr5:13870826 Conflicting classifications of pathogenicity not specified
Condition: not provided
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA242431 rs_112217391

6 SubmittersRCV000247012RCV000724084RCV001089342
NM_001369.3(DNAH5):c.5883-6A>G SNV
Germline		 Chr5:13830781 Conflicting classifications of pathogenicity Condition: not provided
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA244817 rs_763588282

2 SubmittersRCV000177867RCV001446596
NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp) SNV
Germline		 Chr5:13810137 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia 3
Condition: not provided
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA245724 rs_564040169

7 SubmittersRCV000214734RCV000672878RCV000724052RCV001037117
NM_001369.3(DNAH5):c.7752+10T>C SNV
Germline		 Chr5:13809034 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA202948 rs_149460805

6 SubmittersRCV000178597RCV000228235RCV000674418
NM_001369.3(DNAH5):c.9355A>G (p.Lys3119Glu) SNV
Germline		 Chr5:13776457 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA203173 rs_76690956

5 SubmittersRCV000179161RCV000474676RCV001151915
NM_001369.3(DNAH5):c.11234A>G (p.His3745Arg) SNV
Germline		 Chr5:13737473 Conflicting classifications of pathogenicity Condition: not provided
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA246962 rs_36088710

3 SubmittersRCV000179658RCV002054138
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter) SNV
Germline		 Chr5:13865675 Pathogenic Kartagener syndrome
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA346933 rs_771663107

9 SubmittersRCV000190910RCV000477807RCV000814567RCV005051760
NM_001369.3(DNAH5):c.13126-2A>C SNV
Germline		 Chr5:13708337 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA337114 rs_863224503

1 SubmittersRCV000197324
NM_001369.3(DNAH5):c.10616G>A (p.Arg3539His) SNV
Germline		 Chr5:13753489 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA337718 rs_769458738

7 SubmittersRCV000198195RCV000788220RCV004760429
NM_001369.3(DNAH5):c.9502C>T (p.Arg3168Ter) SNV
Germline		 Chr5:13770852 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Respiratory ciliopathies including non-CF bronchiectasis
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA338247 rs_863224504

5 SubmittersRCV000198869RCV004782307RCV005042422
NM_001369.3(DNAH5):c.4509C>T (p.Thr1503=) SNV
Germline		 Chr5:13864484 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
not specified
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA337705 rs_138157585

7 SubmittersRCV000198161RCV000243272RCV001156312RCV001532031
NM_001369.3(DNAH5):c.13778C>T (p.Thr4593Met) SNV
Germline		 Chr5:13692081 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA348633 rs_142036266

4 SubmittersRCV000204405RCV000478631RCV001095124
NM_001369.3(DNAH5):c.12379C>T (p.Arg4127Cys) SNV
Germline		 Chr5:13719002 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA350190 rs_148696723

4 SubmittersRCV000206124RCV000669663
NM_001369.3(DNAH5):c.12251G>A (p.Arg4084Gln) SNV
Germline		 Chr5:13721028 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Infertility disorder		 Criteria Provided
Conflicting Classifications
 CA350552 rs_140832239

5 SubmittersRCV000206529RCV000665808RCV001327954
NM_001369.3(DNAH5):c.8999G>A (p.Arg3000Gln) SNV
Germline		 Chr5:13777308 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA348945 rs_137949961

7 SubmittersRCV000204742RCV000671435RCV001560455
NM_001369.3(DNAH5):c.5557A>T (p.Lys1853Ter) SNV
Germline		 Chr5:13841058 Pathogenic Primary ciliary dyskinesia
Male infertility
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA348039 rs_748618094

7 SubmittersRCV000203745RCV001283735RCV002221513RCV006270359
NM_001369.3(DNAH5):c.5281C>T (p.Arg1761Ter) SNV
Germline		 Chr5:13841895 Pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA348934 rs_148891849

5 SubmittersRCV000204721RCV001781611
NM_001369.3(DNAH5):c.1198G>A (p.Val400Met) SNV
Germline		 Chr5:13914642 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA350879 rs_144575803

10 SubmittersRCV000206891RCV000667189RCV003955226
NM_001369.3(DNAH5):c.88C>T (p.Arg30Trp) SNV
Germline		 Chr5:13931214 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
not specified
Primary ciliary dyskinesia 3
Condition: not provided
Colon adenocarcinoma		 Criteria Provided
Conflicting Classifications
 CA350348 rs_114220185

10 SubmittersRCV000206301RCV000242149RCV000667117RCV004567464RCV005893701
NM_001369.3(DNAH5):c.12209C>T (p.Thr4070Ile) SNV
Germline		 Chr5:13721070 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3201712 rs_746662023

4 SubmittersRCV000223150RCV001833203
NM_001369.3(DNAH5):c.11974G>C (p.Asp3992His) SNV
Germline		 Chr5:13727566 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3201780 rs_143251480

6 SubmittersRCV000214511RCV000541309RCV000666941
NM_001369.3(DNAH5):c.11437C>T (p.Arg3813Trp) SNV
Germline		 Chr5:13737270 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3201981 rs_140948493

9 SubmittersRCV000221456RCV000226887RCV000667684RCV001589126RCV004742336
NM_001369.3(DNAH5):c.10323G>A (p.Met3441Ile) SNV
Germline		 Chr5:13758942 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3202276 rs_149133845

8 SubmittersRCV000222754RCV000382477RCV001095007
NM_001369.3(DNAH5):c.10294G>T (p.Val3432Leu) SNV
Germline		 Chr5:13758971 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3202282 rs_143251588

7 SubmittersRCV000218494RCV000457798RCV001153065
NM_001369.3(DNAH5):c.8840C>T (p.Thr2947Ile) SNV
Germline		 Chr5:13780940 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3202693 rs_756216163

4 SubmittersRCV000223383RCV001833204
NM_001369.3(DNAH5):c.7212T>C (p.Asp2404=) SNV
Germline		 Chr5:13814623 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA10576647 rs_876657454

3 SubmittersRCV000223615RCV001157581RCV001484159
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile) SNV
Germline		 Chr5:13830026 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA501221 rs_753614861

9 SubmittersRCV000214042RCV000778755RCV002253304
NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys) SNV
Germline		 Chr5:13844842 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3203750 rs_116524991

8 SubmittersRCV000220686RCV000227501RCV001152320RCV001582726
NM_001369.3(DNAH5):c.4796+11C>A SNV
Germline		 Chr5:13862537 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3203893 rs_146696580

4 SubmittersRCV000221152RCV001152428RCV002054371
NM_001369.3(DNAH5):c.4510G>C (p.Gly1504Arg) SNV
Germline		 Chr5:13864483 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3203964 rs_143567667

8 SubmittersRCV000222371RCV000351920RCV001095083RCV005243162
NM_001369.3(DNAH5):c.3534C>T (p.Asn1178=) SNV
Germline		 Chr5:13871628 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3204242 rs_151274810

5 SubmittersRCV000219413RCV000553639RCV001156531
NM_001369.3(DNAH5):c.1321-15T>C SNV
Germline		 Chr5:13913973 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3204877 rs_202081804

3 SubmittersRCV000215129RCV000302531RCV002054945
NM_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln) SNV
Germline		 Chr5:13692084 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3201244 rs_367709427

6 SubmittersRCV000229430RCV000670498RCV006434428
NM_001369.3(DNAH5):c.12523G>A (p.Val4175Met) SNV
Germline		 Chr5:13717497 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3201602 rs_148123430

7 SubmittersRCV000226198RCV000674761RCV001200467
NM_001369.3(DNAH5):c.11231C>A (p.Thr3744Asn) SNV
Germline		 Chr5:13737476 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3202018 rs_529225111

6 SubmittersRCV000231984RCV000665807
NM_001369.3(DNAH5):c.10384C>T (p.Gln3462Ter) SNV
Germline		 Chr5:13758881 Pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3202257 rs_571919972

9 SubmittersRCV000233866RCV000679863RCV001572953
NM_001369.3(DNAH5):c.10226G>C (p.Trp3409Ser) SNV
Germline		 Chr5:13762777 Pathogenic/Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Multiple Submitters
No Conflicts
 CA3202307 rs_755407407

2 SubmittersRCV000231062
NM_001369.3(DNAH5):c.9986T>C (p.Leu3329Pro) SNV
Germline		 Chr5:13766091 Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10582396 rs_878854459

2 SubmittersRCV000226362RCV006452531
NM_001369.3(DNAH5):c.8029C>T (p.Arg2677Ter) SNV
Germline		 Chr5:13793710 Pathogenic Primary ciliary dyskinesia
Heterotaxy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3202915 rs_775946081

5 SubmittersRCV000232132RCV001731458RCV004719779
NM_001369.3(DNAH5):c.7034G>A (p.Trp2345Ter) SNV
Germline		 Chr5:13814801 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA10582397 rs_755596256

1 SubmittersRCV000231665
NM_001369.3(DNAH5):c.6444+4T>C SNV
Germline		 Chr5:13829506 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3203404 rs_377638408

4 SubmittersRCV000232341RCV006445592
NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys) SNV
Germline		 Chr5:13841763 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Infertility disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3203683 rs_142155986

9 SubmittersRCV000227953RCV000669971RCV001327951RCV003311723
NM_001369.3(DNAH5):c.5290T>C (p.Ser1764Pro) SNV
Germline		 Chr5:13841886 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3203705 rs_748763552

4 SubmittersRCV000234185RCV002494641
NM_001369.3(DNAH5):c.5114+1G>C SNV
Germline		 Chr5:13850651 Pathogenic Primary ciliary dyskinesia Criteria Provided
Multiple Submitters
No Conflicts
 CA10582399 rs_878854457

3 SubmittersRCV000229823
NM_001369.3(DNAH5):c.4961G>A (p.Arg1654Gln) SNV
Germline		 Chr5:13850805 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3203823 rs_150868941

10 SubmittersRCV000227048RCV000519727RCV000673861
NM_001369.3(DNAH5):c.2861A>C (p.Glu954Ala) SNV
Germline		 Chr5:13885111 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204469 rs_753696648

3 SubmittersRCV000228036
NM_001369.3(DNAH5):c.1830G>A (p.Gln610=) SNV
Germline		 Chr5:13901474 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3204736 rs_549164618

3 SubmittersRCV000231004RCV001154229
NM_001369.3(DNAH5):c.841G>A (p.Val281Ile) SNV
Germline		 Chr5:13919310 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3205054 rs_548585661

3 SubmittersRCV000225882
NM_001369.3(DNAH5):c.367C>T (p.Leu123Phe) SNV
Germline		 Chr5:13923351 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3205201 rs_148017278

4 SubmittersRCV000232369RCV001095094RCV003311722
NM_001369.3(DNAH5):c.330A>T (p.Lys110Asn) SNV
Germline		 Chr5:13923388 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3205211 rs_138832246

5 SubmittersRCV000231939RCV001151413
NM_001369.3(DNAH5):c.12367C>T (p.His4123Tyr) SNV
Germline		 Chr5:13719014 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3201662 rs_151145750

6 SubmittersRCV000253565RCV000361695RCV001094958
NM_001369.3(DNAH5):c.12279+6G>C SNV
Germline		 Chr5:13720994 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3201695 rs_762179184

2 SubmittersRCV000251840RCV000812834
NM_001369.3(DNAH5):c.11761+5A>G SNV
Germline		 Chr5:13735126 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3201861 rs_780205801

4 SubmittersRCV000245193RCV000307774RCV001095003
NM_001369.3(DNAH5):c.11571-9A>G SNV
Germline		 Chr5:13735330 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3201905 rs_779715252

3 SubmittersRCV000249849RCV000303992RCV002058031
NM_001369.3(DNAH5):c.11570+13G>A SNV
Germline		 Chr5:13735805 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3201922 rs_80199741

3 SubmittersRCV000248526RCV000358718RCV002519904
NM_001369.3(DNAH5):c.9941G>A (p.Arg3314His) SNV
Germline		 Chr5:13766136 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3202373 rs_143858741

6 SubmittersRCV000250851RCV000303574RCV001095071
NM_001369.3(DNAH5):c.9681A>G (p.Lys3227=) SNV
Germline		 Chr5:13769540 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3202471 rs_138639741

7 SubmittersRCV000254406RCV000861990RCV001157366RCV001731548
NM_001369.3(DNAH5):c.9244C>A (p.Leu3082Ile) SNV
Germline		 Chr5:13776568 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3202588 rs_147372600

6 SubmittersRCV000243301RCV000300115RCV001094979
NM_001369.3(DNAH5):c.8805G>C (p.Met2935Ile) SNV
Germline		 Chr5:13786194 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3202732 rs_77874614

4 SubmittersRCV000246854RCV000549936RCV001155773
NM_001369.3(DNAH5):c.8224+15G>A SNV
Germline		 Chr5:13793500 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3202871 rs_148099176

4 SubmittersRCV000251149RCV001157485RCV002058042
NM_001369.3(DNAH5):c.7753-9C>G SNV
Germline		 Chr5:13807734 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3203003 rs_377367981

4 SubmittersRCV000254187RCV001155873RCV000861757RCV006445623
NM_001369.3(DNAH5):c.6167A>T (p.Lys2056Ile) SNV
Germline		 Chr5:13830108 Conflicting classifications of pathogenicity not specified
Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3203466 rs_578128759

7 SubmittersRCV000245497RCV000487618RCV001082173RCV001152215
NM_001369.3(DNAH5):c.5196G>T (p.Ala1732=) SNV
Germline		 Chr5:13844912 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3203765 rs_201484389

5 SubmittersRCV000245538RCV000475780RCV001152321RCV003430803
NM_001369.3(DNAH5):c.4258A>G (p.Asn1420Asp) SNV
Germline		 Chr5:13865765 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3204035 rs_201841311

7 SubmittersRCV000247645RCV000530786RCV001153798RCV001570739
NM_001369.3(DNAH5):c.3777G>A (p.Ala1259=) SNV
Germline		 Chr5:13870824 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3204177 rs_144893234

6 SubmittersRCV000251762RCV000266448RCV001095046RCV005641568
NM_001369.3(DNAH5):c.2708A>C (p.Asn903Thr) SNV
Germline		 Chr5:13885999 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3204517 rs_749503841

4 SubmittersRCV000253527RCV000456241
NM_001369.3(DNAH5):c.2577+5T>C SNV
Germline		 Chr5:13890971 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3204553 rs_201596289

3 SubmittersRCV000249096RCV002450772
NM_001369.3(DNAH5):c.2443T>A (p.Leu815Met) SNV
Germline		 Chr5:13891110 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3204582 rs_149654950

6 SubmittersRCV000244322RCV000467062RCV001154958RCV003311732
NM_001369.3(DNAH5):c.2067T>C (p.His689=) SNV
Germline		 Chr5:13900398 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3204665 rs_140630779

4 SubmittersRCV000241812RCV000862148RCV001151161
NM_001369.3(DNAH5):c.1644+12A>G SNV
Germline		 Chr5:13911374 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3204788 rs_201116549

4 SubmittersRCV000248964RCV000282674RCV002058035
NM_001369.3(DNAH5):c.299G>C (p.Gly100Ala) SNV
Germline		 Chr5:13923419 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3205215 rs_144236383

8 SubmittersRCV000244963RCV000344003RCV000514353RCV001094959
NM_001369.3(DNAH5):c.-8C>T SNV
Germline		 Chr5:13944446 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3205318 rs_199528866

2 SubmittersRCV000250662RCV001154439
NM_001369.3(DNAH5):c.10441C>T (p.Arg3481Ter) SNV
Germline		 Chr5:13754317 Pathogenic/Likely pathogenic Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588392 rs_886039500

8 SubmittersRCV000255126RCV001216552RCV003137869
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu) SNV
Germline		 Chr5:13780935 Conflicting classifications of pathogenicity Condition: not provided
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
See cases		 Criteria Provided
Conflicting Classifications
 CA3202691 rs_147688221

13 SubmittersRCV000405261RCV000665445RCV001084271RCV004584378
NM_001369.3(DNAH5):c.8925C>T (p.Tyr2975=) SNV
Germline		 Chr5:13780855 Conflicting classifications of pathogenicity Condition: not provided
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3202673 rs_755490391

3 SubmittersRCV000357836RCV001088517
NM_001369.3(DNAH5):c.8030G>A (p.Arg2677Gln) SNV
Germline		 Chr5:13793709 Conflicting classifications of pathogenicity Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA10605536 rs_886043448

6 SubmittersRCV000369132RCV000558292RCV001257434
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln) SNV
Germline		 Chr5:13864632 Conflicting classifications of pathogenicity Condition: not provided
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3203993 rs_542708170

8 SubmittersRCV000266533RCV000477841RCV001247795
NM_001369.3(DNAH5):c.10784C>T (p.Thr3595Met) SNV
Germline		 Chr5:13753321 Conflicting classifications of pathogenicity Condition: not provided
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA10606127 rs_886043929

3 SubmittersRCV000312632RCV003352823
NM_001369.3(DNAH5):c.13817C>A (p.Ala4606Asp) SNV
Germline		 Chr5:13692042 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3201233 rs_770244453

3 SubmittersRCV000294020RCV002520312
NM_001369.3(DNAH5):c.10640G>A (p.Arg3547Gln) SNV
Germline		 Chr5:13753465 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3202164 rs_779977337

3 SubmittersRCV000331162RCV002520317
NM_001369.3(DNAH5):c.10066T>C (p.Leu3356=) SNV
Germline		 Chr5:13766011 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
DNAH5-related disorder
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3202341 rs_138441172

6 SubmittersRCV000343231RCV003912495RCV001095009RCV005256602
NM_001369.3(DNAH5):c.10036A>G (p.Thr3346Ala) SNV
Germline		 Chr5:13766041 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3202347 rs_141971313

5 SubmittersRCV000401175RCV001095070
NM_001369.3(DNAH5):c.8726G>A (p.Arg2909His) SNV
Germline		 Chr5:13786273 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3202756 rs_756069405

3 SubmittersRCV000370323RCV001255318
NM_001369.3(DNAH5):c.8725C>T (p.Arg2909Cys) SNV
Germline		 Chr5:13786274 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3202757 rs_369744828

2 SubmittersRCV000273353RCV002520318
NM_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg) SNV
Germline		 Chr5:13793944 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3202939 rs_147236883

9 SubmittersRCV000378200RCV000591046RCV001094982RCV003932438
NM_001369.3(DNAH5):c.7923T>G (p.Gly2641=) SNV
Germline		 Chr5:13794023 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3202953 rs_748304927

2 SubmittersRCV000281416RCV001501472
NM_001369.3(DNAH5):c.7452C>A (p.Phe2484Leu) SNV
Germline		 Chr5:13810216 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3203090 rs_561666802

2 SubmittersRCV000279808RCV002520319
NM_001369.3(DNAH5):c.7206C>A (p.Ile2402=) SNV
Germline		 Chr5:13814629 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA10619106 rs_747529694

2 SubmittersRCV000368778RCV002061254
NM_001369.3(DNAH5):c.5643G>A (p.Thr1881=) SNV
Germline		 Chr5:13840972 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3203621 rs_150429110

4 SubmittersRCV000291049RCV001095121RCV003957816
NM_001369.3(DNAH5):c.5425G>A (p.Ala1809Thr) SNV
Germline		 Chr5:13841751 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3203678 rs_758513686

3 SubmittersRCV000286231RCV002348104
NM_001369.3(DNAH5):c.4703G>A (p.Arg1568His) SNV
Germline		 Chr5:13862641 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3203909 rs_200994058

4 SubmittersRCV000306730RCV001094993
NM_001369.3(DNAH5):c.4596+5A>C SNV
Germline		 Chr5:13864392 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3203942 rs_182677317

5 SubmittersRCV000292300RCV001095082RCV003437118RCV003950244
NM_001369.3(DNAH5):c.2400G>A (p.Glu800=) SNV
Germline		 Chr5:13894681 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3204605 rs_199951976

5 SubmittersRCV000368246RCV001095052
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp) SNV
Germline		 Chr5:13902068 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
not specified
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3204763 rs_137878131

12 SubmittersRCV000336304RCV000825330RCV000765816RCV001770279
NM_001369.3(DNAH5):c.946C>T (p.Leu316Phe) SNV
Germline		 Chr5:13919205 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3205031 rs_201706790

3 SubmittersRCV000371569RCV001095059
NM_001369.3(DNAH5):c.13072C>T (p.Arg4358Trp) SNV
Germline		 Chr5:13714458 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3201458 rs_753960777

4 SubmittersRCV000264300RCV001309468
NM_001369.3(DNAH5):c.13070C>G (p.Ala4357Gly) SNV
Germline		 Chr5:13714460 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Condition: not provided
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3201460 rs_368776967

4 SubmittersRCV000378813RCV000596408RCV002520314
NM_001369.3(DNAH5):c.12500-11G>A SNV
Germline		 Chr5:13717531 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3201607 rs_200056509

2 SubmittersRCV000301182RCV002058508
NM_001369.3(DNAH5):c.11586G>A (p.Pro3862=) SNV
Germline		 Chr5:13735306 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
not specified		 Criteria Provided
Conflicting Classifications
 CA3201898 rs_755874851

5 SubmittersRCV000393714RCV001095005RCV005434862
NM_001369.3(DNAH5):c.5848A>G (p.Thr1950Ala) SNV
Germline		 Chr5:13839390 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3203561 rs_368863709

3 SubmittersRCV000670281RCV002520320
NM_001369.3(DNAH5):c.4707A>G (p.Gly1569=) SNV
Germline		 Chr5:13862637 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA10620251 rs_886059985

2 SubmittersRCV000272615RCV002058510
NM_001369.3(DNAH5):c.3650T>C (p.Ile1217Thr) SNV
Germline		 Chr5:13870951 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3204207 rs_112124692

6 SubmittersRCV000262746RCV001095085RCV002466489RCV003902362
NM_001369.3(DNAH5):c.3179A>T (p.Lys1060Met) SNV
Germline		 Chr5:13882811 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3204354 rs_145672251

7 SubmittersRCV000288879RCV001095000RCV001584067
NM_001369.3(DNAH5):c.3084A>G (p.Glu1028=) SNV
Germline		 Chr5:13882994 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3204400 rs_766451124

2 SubmittersRCV000384642RCV001095025
NM_001369.3(DNAH5):c.2203G>C (p.Ala735Pro) SNV
Germline		 Chr5:13900262 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3204644 rs_150793327

2 SubmittersRCV000384177RCV002520323
NM_001369.3(DNAH5):c.1475C>A (p.Thr492Lys) SNV
Germline		 Chr5:13913804 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3204844 rs_189145014

4 SubmittersRCV000314410RCV001246219RCV005256603
NM_001369.3(DNAH5):c.393C>T (p.Ile131=) SNV
Germline		 Chr5:13923325 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3205195 rs_202190908

3 SubmittersRCV000387751RCV001095093RCV003897793
NM_001369.3(DNAH5):c.13672A>G (p.Lys4558Glu) SNV
Germline		 Chr5:13700691 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3201285 rs_752010216

6 SubmittersRCV000315624RCV001094951RCV004695832
NM_001369.3(DNAH5):c.11349C>T (p.Val3783=) SNV
Germline		 Chr5:13737358 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3201994 rs_774415631

4 SubmittersRCV000355744RCV001472305RCV003922546
NM_001369.3(DNAH5):c.10593T>A (p.Ser3531=) SNV
Germline		 Chr5:13753512 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Gastric cancer		 Criteria Provided
Conflicting Classifications
 CA3202170 rs_200974254

4 SubmittersRCV000385697RCV001094975RCV005897939
NM_001369.3(DNAH5):c.10556-15T>C SNV
Germline		 Chr5:13753564 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3202182 rs_754992743

2 SubmittersRCV000291711RCV003535692
NM_001369.3(DNAH5):c.13155A>T (p.Pro4385=) SNV
Germline		 Chr5:13708306 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3201433 rs_202103048

4 SubmittersRCV000356653RCV001094955
NM_001369.3(DNAH5):c.12937G>C (p.Val4313Leu) SNV
Germline		 Chr5:13714593 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3201488 rs_769666008

3 SubmittersRCV000325468RCV002523505
NM_001369.3(DNAH5):c.12546G>A (p.Lys4182=) SNV
Germline		 Chr5:13717474 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3201598 rs_146330391

3 SubmittersRCV000391520RCV001432231RCV003970017
NM_001369.3(DNAH5):c.12396C>T (p.Thr4132=) SNV
Germline		 Chr5:13718985 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3201652 rs_776715085

2 SubmittersRCV000304708RCV001465695
NM_001369.3(DNAH5):c.12234C>T (p.Gly4078=) SNV
Germline		 Chr5:13721045 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA10622710 rs_886059967

2 SubmittersRCV000332702RCV002520315
NM_001369.3(DNAH5):c.11694G>T (p.Leu3898Phe) SNV
Germline		 Chr5:13735198 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3201872 rs_200798994

5 SubmittersRCV000343991RCV001095004RCV005241356
NM_001369.3(DNAH5):c.11463G>A (p.Thr3821=) SNV
Germline		 Chr5:13735925 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3201947 rs_200744540

4 SubmittersRCV000263973RCV001095067RCV003957815
NM_001369.3(DNAH5):c.8273A>C (p.Glu2758Ala) SNV
Germline		 Chr5:13792169 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3202852 rs_527914224

4 SubmittersRCV000327201RCV001095111
NM_001369.3(DNAH5):c.7684A>T (p.Ile2562Phe) SNV
Germline		 Chr5:13809112 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3203026 rs_151287187

7 SubmittersRCV000398949RCV001095078RCV005415565
NM_001369.3(DNAH5):c.7091G>C (p.Gly2364Ala) SNV
Germline		 Chr5:13814744 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3203184 rs_373657849

4 SubmittersRCV002365418RCV000660416
NM_001369.3(DNAH5):c.6956C>T (p.Thr2319Met) SNV
Germline		 Chr5:13817580 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3203229 rs_144983881

4 SubmittersRCV000362455RCV001094985RCV003912496
NM_001369.3(DNAH5):c.6791G>A (p.Ser2264Asn) SNV
Germline		 Chr5:13820396 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA3203278 rs_78484669

1 SubmittersRCV000807221
NM_001369.3(DNAH5):c.6230T>C (p.Phe2077Ser) SNV
Germline		 Chr5:13830045 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3203461 rs_141196027

4 SubmittersRCV000360369RCV001094989
NM_001369.3(DNAH5):c.3643G>C (p.Val1215Leu) SNV
Germline		 Chr5:13870958 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3204211 rs_763448297

2 SubmittersRCV000317984RCV002520322
NM_001369.3(DNAH5):c.2431+5G>A SNV
Germline		 Chr5:13894645 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided
DNAH5-related disorder
Familial cancer of breast
not specified		 Criteria Provided
Conflicting Classifications
 CA3204595 rs_369244905

8 SubmittersRCV000311206RCV001095051RCV000489824RCV004742396RCV005898926RCV005418093
NM_001369.3(DNAH5):c.1341C>T (p.His447=) SNV
Germline		 Chr5:13913938 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA10622782 rs_886060014

2 SubmittersRCV000273143RCV002061255
NM_001369.3(DNAH5):c.1090-6T>C SNV
Germline		 Chr5:13916461 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA10622783 rs_886060015

2 SubmittersRCV000267248RCV003650575
NM_001369.3(DNAH5):c.967C>T (p.Leu323=) SNV
Germline		 Chr5:13919184 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3205024 rs_746109550

3 SubmittersRCV000323971RCV001435868
NM_001369.3(DNAH5):c.535A>G (p.Thr179Ala) SNV
Germline		 Chr5:13922232 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3205158 rs_755082450

2 SubmittersRCV000292355RCV002520324
NM_001369.3(DNAH5):c.465G>A (p.Ala155=) SNV
Germline		 Chr5:13922302 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3205170 rs_763709302

3 SubmittersRCV000349615RCV001095092
NM_001369.3(DNAH5):c.8765G>A (p.Arg2922His) SNV
Germline		 Chr5:13786234 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3202744 rs_148539877

4 SubmittersRCV000260521RCV001241887
NM_001369.3(DNAH5):c.8268A>C (p.Ser2756=) SNV
Germline		 Chr5:13792174 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3202853 rs_775185371

4 SubmittersRCV000379430RCV001095112
NM_001369.3(DNAH5):c.8099T>C (p.Ile2700Thr) SNV
Germline		 Chr5:13793640 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3202898 rs_760739660

2 SubmittersRCV000287171RCV002058509
NM_001369.3(DNAH5):c.7449G>A (p.Leu2483=) SNV
Germline		 Chr5:13810219 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA10622842 rs_886059974

2 SubmittersRCV000351194RCV006629140
NM_001369.3(DNAH5):c.6018T>C (p.Cys2006=) SNV
Germline		 Chr5:13830640 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3203508 rs_368456533

4 SubmittersRCV000302335RCV001095017
NM_001369.3(DNAH5):c.5472C>T (p.Ser1824=) SNV
Germline		 Chr5:13841704 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3203670 rs_372046349

2 SubmittersRCV000382876RCV001461186
NM_001369.3(DNAH5):c.4338C>G (p.Leu1446=) SNV
Germline		 Chr5:13865685 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3204015 rs_377432140

5 SubmittersRCV000355193RCV001094994RCV006447051
NM_001369.3(DNAH5):c.4054-4T>C SNV
Germline		 Chr5:13866286 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3204092 rs_200608915

3 SubmittersRCV000397256RCV001095125
NM_001369.3(DNAH5):c.3733C>T (p.Arg1245Cys) SNV
Germline		 Chr5:13870868 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3204189 rs_149609746

5 SubmittersRCV000353133RCV001095084
NM_001369.3(DNAH5):c.1870G>A (p.Ala624Thr) SNV
Germline		 Chr5:13901434 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA10622891 rs_373727231

2 SubmittersRCV000282915RCV001850859
NM_001369.3(DNAH5):c.1362A>G (p.Lys454=) SNV
Germline		 Chr5:13913917 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3204869 rs_371157628

4 SubmittersRCV000365396RCV001095090
NM_001369.3(DNAH5):c.5177T>C (p.Leu1726Pro) SNV
Germline		 Chr5:13844931 Pathogenic Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3203769 rs_138890576

4 SubmittersRCV000408603RCV000525295RCV005434895
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter) SNV
Germline		 Chr5:13841112 Conflicting classifications of pathogenicity Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3203650 rs_761622153

11 SubmittersRCV000413667RCV000539827RCV001283848RCV004742412
NM_001369.3(DNAH5):c.11583C>A (p.Ser3861Arg) SNV
Germline		 Chr5:13735309 Conflicting classifications of pathogenicity Condition: not provided
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3201900 rs_576096758

8 SubmittersRCV000439859RCV001155590RCV001835797
NM_001369.3(DNAH5):c.6688-1G>T SNV
Germline		 Chr5:13820500 Pathogenic Condition: not provided
Lung cancer		 Criteria Provided
Single Submitter
 CA16605282 rs_1057520697

2 SubmittersRCV000421666RCV005896257
NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter) SNV
Germline		 Chr5:13701289 Pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided
Respiratory ciliopathies including non-CF bronchiectasis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3201351 rs_200901816

9 SubmittersRCV000471460RCV000763130RCV001662425RCV004782385
NM_001369.3(DNAH5):c.13174T>C (p.Phe4392Leu) SNV
Germline		 Chr5:13708287 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3201428 rs_369714206

4 SubmittersRCV000467947RCV004711112
NM_001369.3(DNAH5):c.12265C>T (p.Gln4089Ter) SNV
Germline		 Chr5:13721014 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16611765 rs_1060501456

2 SubmittersRCV000469460RCV000760474
NM_001369.3(DNAH5):c.8940C>T (p.Ile2980=) SNV
Germline		 Chr5:13780840 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3202670 rs_144001451

3 SubmittersRCV000461655RCV001153167
NM_001369.3(DNAH5):c.8018A>G (p.Asn2673Ser) SNV
Germline		 Chr5:13793721 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3202916 rs_200591493

3 SubmittersRCV000456577RCV001532029
NM_001369.3(DNAH5):c.7475C>T (p.Ala2492Val) SNV
Germline		 Chr5:13810193 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3203085 rs_529080443

3 SubmittersRCV000464819RCV003615840
NM_001369.3(DNAH5):c.5983C>T (p.Arg1995Ter) SNV
Germline		 Chr5:13830675 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA3203516 rs_773711154

3 SubmittersRCV000459469
NM_001369.3(DNAH5):c.4797-7A>G SNV
Germline		 Chr5:13859612 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3203873 rs_374917069

2 SubmittersRCV000474475RCV001157899
NM_001369.3(DNAH5):c.11725C>T (p.Arg3909Ter) SNV
Germline		 Chr5:13735167 Pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Heterotaxy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16611798 rs_1060501464

3 SubmittersRCV000461296RCV000763131RCV001731690
NM_001369.3(DNAH5):c.975+6C>T SNV
Germline		 Chr5:13919170 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3205019 rs_151000177

4 SubmittersRCV000473809RCV001154347RCV005243246
NM_001369.3(DNAH5):c.257A>G (p.Asp86Gly) SNV
Germline		 Chr5:13928114 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3205240 rs_147441805

3 SubmittersRCV000468468
NM_001369.3(DNAH5):c.7943C>T (p.Ala2648Val) SNV
Germline		 Chr5:13794003 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3202947 rs_201939338

4 SubmittersRCV000464127RCV001153276
NM_001369.3(DNAH5):c.7688T>G (p.Leu2563Arg) SNV
Germline		 Chr5:13809108 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3203024 rs_187551830

3 SubmittersRCV000473303RCV001155875
NM_001369.3(DNAH5):c.6748G>A (p.Glu2250Lys) SNV
Germline		 Chr5:13820439 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3203289 rs_201285946

3 SubmittersRCV000468270RCV004696213
NM_001369.3(DNAH5):c.6304C>T (p.Arg2102Cys) SNV
Germline		 Chr5:13829650 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3203432 rs_767019228

4 SubmittersRCV000457921RCV001268786RCV005033975
NM_001369.3(DNAH5):c.506C>T (p.Ser169Leu) SNV
Germline		 Chr5:13922261 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3205163 rs_749078502

3 SubmittersRCV000477129
NM_001369.3(DNAH5):c.13331G>A (p.Trp4444Ter) SNV
Germline		 Chr5:13708130 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA16611863 rs_1060501467

1 SubmittersRCV000462143
NM_001369.3(DNAH5):c.11533C>T (p.Arg3845Cys) SNV
Germline		 Chr5:13735855 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3201932 rs_565819640

3 SubmittersRCV000464708
NM_001369.3(DNAH5):c.10367C>T (p.Ala3456Val) SNV
Germline		 Chr5:13758898 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided
Uterine corpus endometrial carcinoma		 Criteria Provided
Conflicting Classifications
 CA3202266 rs_149956015

7 SubmittersRCV000477490RCV001153064RCV004797813RCV005899460
NM_001369.3(DNAH5):c.8465G>A (p.Trp2822Ter) SNV
Germline		 Chr5:13788898 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA16611868 rs_1060501455

1 SubmittersRCV000457343
NM_001369.3(DNAH5):c.4053+1G>T SNV
Germline		 Chr5:13867773 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA16611874 rs_1060501466

1 SubmittersRCV000469666
NM_001369.3(DNAH5):c.3202G>C (p.Ala1068Pro) SNV
Germline		 Chr5:13882788 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3204351 rs_200249508

4 SubmittersRCV000460245RCV001152845RCV001755713
NM_001369.3(DNAH5):c.2533C>T (p.Gln845Ter) SNV
Germline		 Chr5:13891020 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16611879 rs_1060501458

2 SubmittersRCV000469993RCV005044668
NM_001369.3(DNAH5):c.962C>T (p.Ser321Leu) SNV
Germline		 Chr5:13919189 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3205026 rs_201077964

7 SubmittersRCV000463187RCV000625551RCV003884546
NM_001369.3(DNAH5):c.193-6T>G SNV
Germline		 Chr5:13928184 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3205253 rs_762313659

3 SubmittersRCV000474434RCV003970318
NM_001369.3(DNAH5):c.57G>T (p.Thr19=) SNV
Germline		 Chr5:13944382 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3205304 rs_142969794

3 SubmittersRCV000471523RCV002244941
NM_001369.3(DNAH5):c.13437C>T (p.Cys4479=) SNV
Germline		 Chr5:13701338 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3201367 rs_376510352

2 SubmittersRCV000466536RCV001154226
NM_001369.3(DNAH5):c.8821-1G>C SNV
Germline		 Chr5:13780960 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA16612001 rs_1060501454

1 SubmittersRCV000467095
NM_001369.3(DNAH5):c.8314C>T (p.Arg2772Ter) SNV
Germline		 Chr5:13792128 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3202844 rs_781469274

7 SubmittersRCV000473928RCV001849377RCV004822052
NM_001369.3(DNAH5):c.8137C>T (p.Arg2713Cys) SNV
Germline		 Chr5:13793602 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3202891 rs_111912673

5 SubmittersRCV000475199RCV001157487RCV001662438
NM_001369.3(DNAH5):c.6544A>G (p.Met2182Val) SNV
Germline		 Chr5:13824234 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3203366 rs_778507942

3 SubmittersRCV000467231RCV004771473
NM_001369.3(DNAH5):c.6529G>C (p.Glu2177Gln) SNV
Germline		 Chr5:13824249 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3203370 rs_116069486

4 SubmittersRCV000460304RCV004711122
NM_001369.3(DNAH5):c.6409C>A (p.Leu2137Ile) SNV
Germline		 Chr5:13829545 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3203415 rs_181884470

4 SubmittersRCV000464982RCV004711113
NM_001369.3(DNAH5):c.3064G>A (p.Val1022Ile) SNV
Germline		 Chr5:13883014 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
not specified		 Criteria Provided
Conflicting Classifications
 CA3204404 rs_375218798

3 SubmittersRCV000470933RCV004526678
NM_001369.3(DNAH5):c.2571G>A (p.Met857Ile) SNV
Germline		 Chr5:13890982 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204554 rs_199667661

3 SubmittersRCV000462683
NM_001369.3(DNAH5):c.559G>T (p.Glu187Ter) SNV
Germline		 Chr5:13922208 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA16612017 rs_759059925

1 SubmittersRCV000465113
NM_001369.3(DNAH5):c.6427G>T (p.Glu2143Ter) SNV
Germline		 Chr5:13829527 Pathogenic Condition: not provided
Primary ciliary dyskinesia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16618118 rs_1064795496

2 SubmittersRCV000482090RCV001865463
NM_001369.3(DNAH5):c.8731A>G (p.Asn2911Asp) SNV
Germline		 Chr5:13786268 Conflicting classifications of pathogenicity Condition: not provided
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3202755 rs_142852982

4 SubmittersRCV000489353RCV001086514
NM_001369.3(DNAH5):c.5647C>T (p.Arg1883Ter) SNV
Germline		 Chr5:13840968 Pathogenic Condition: not provided
Primary ciliary dyskinesia
DNAH5-related disorder
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3203619 rs_575017579

5 SubmittersRCV000494045RCV000629506RCV004742451RCV006550253
NM_001369.3(DNAH5):c.3320A>T (p.Tyr1107Phe) SNV
Germline		 Chr5:13876760 Conflicting classifications of pathogenicity Condition: not provided
Primary ciliary dyskinesia
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3204309 rs_367913308

3 SubmittersRCV000523333RCV001087092RCV003915469
NM_001369.3(DNAH5):c.13448C>T (p.Thr4483Met) SNV
Germline		 Chr5:13701327 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3201364 rs_141828476

5 SubmittersRCV000550344RCV001154225RCV003431067
NM_001369.3(DNAH5):c.13175T>G (p.Phe4392Cys) SNV
Germline		 Chr5:13708286 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3201427 rs_145400611

7 SubmittersRCV000532414RCV000660460RCV004597816
NM_001369.3(DNAH5):c.5118C>G (p.Tyr1706Ter) SNV
Germline		 Chr5:13844990 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359214532 rs_1554074565

2 SubmittersRCV000536501RCV003317256
NM_001369.3(DNAH5):c.3943G>T (p.Glu1315Ter) SNV
Germline		 Chr5:13867884 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359229120 rs_753397685

1 SubmittersRCV000546605
NM_001369.3(DNAH5):c.12709G>T (p.Val4237Phe) SNV
Germline		 Chr5:13716687 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3201539 rs_138045391

3 SubmittersRCV000532779
NM_001369.3(DNAH5):c.3656G>A (p.Arg1219His) SNV
Germline		 Chr5:13870945 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3204204 rs_73055857

4 SubmittersRCV000527499RCV003338643RCV003431069
NM_001369.3(DNAH5):c.12104C>T (p.Thr4035Met) SNV
Germline		 Chr5:13721175 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3201738 rs_200894344

4 SubmittersRCV000526097RCV002476082
NM_001369.3(DNAH5):c.11211+1G>A SNV
Germline		 Chr5:13751077 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359188799 rs_1554033855

1 SubmittersRCV000559780
NM_001369.3(DNAH5):c.11168T>A (p.Leu3723Gln) SNV
Germline		 Chr5:13751121 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
not specified		 Criteria Provided
Conflicting Classifications
 CA359188897 rs_1554033862

3 SubmittersRCV000549379RCV004586763
NM_001369.3(DNAH5):c.2944C>T (p.Arg982Cys) SNV
Germline		 Chr5:13885028 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204450 rs_143673459

3 SubmittersRCV000536018
NM_001369.3(DNAH5):c.2504T>A (p.Met835Lys) SNV
Germline		 Chr5:13891049 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
DNAH5-related disorder
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA359199612 rs_1554092890

3 SubmittersRCV000559049RCV003403249RCV006452714
NM_001369.3(DNAH5):c.9720+5G>A SNV
Germline		 Chr5:13769496 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3202461 rs_763440781

5 SubmittersRCV000530414RCV001542573RCV005621965
NM_001369.3(DNAH5):c.9590G>A (p.Arg3197Gln) SNV
Germline		 Chr5:13770764 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3202507 rs_573476401

2 SubmittersRCV000542714RCV001157368
NM_001369.3(DNAH5):c.1611C>G (p.Tyr537Ter) SNV
Germline		 Chr5:13911419 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359211831 rs_367877988

1 SubmittersRCV000531107
NM_001369.3(DNAH5):c.1432C>T (p.Arg478Ter) SNV
Germline		 Chr5:13913847 Pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3204856 rs_747900131

6 SubmittersRCV000538695RCV002283489RCV006447300
NM_001369.3(DNAH5):c.1250C>G (p.Thr417Ser) SNV
Germline		 Chr5:13914590 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3204902 rs_149202369

5 SubmittersRCV000539440RCV004711144
NM_001369.3(DNAH5):c.9230G>A (p.Arg3077Gln) SNV
Germline		 Chr5:13776582 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3202591 rs_113742238

4 SubmittersRCV000531192RCV004691841
NM_001369.3(DNAH5):c.349G>A (p.Glu117Lys) SNV
Germline		 Chr5:13923369 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3205206 rs_116128702

3 SubmittersRCV000550569
NM_001369.3(DNAH5):c.3013A>T (p.Asn1005Tyr) SNV
Germline		 Chr5:13883065 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3204415 rs_770975422

5 SubmittersRCV000550903RCV001197264
NM_001369.3(DNAH5):c.2710G>T (p.Glu904Ter) SNV
Germline		 Chr5:13885997 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359196177 rs_1554090927

1 SubmittersRCV000543311
NM_001369.3(DNAH5):c.342C>T (p.Phe114=) SNV
Germline		 Chr5:13923376 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3205210 rs_145920072

4 SubmittersRCV000535661RCV001156830RCV003431068
NM_001369.3(DNAH5):c.13426C>T (p.Arg4476Ter) SNV
Germline		 Chr5:13701349 Pathogenic Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3201370 rs_767716511

3 SubmittersRCV000535464RCV002223858
NM_001369.3(DNAH5):c.8828G>A (p.Arg2943His) SNV
Germline		 Chr5:13780952 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3202698 rs_184758570

6 SubmittersRCV000528776RCV001155771RCV004691840
NM_001369.3(DNAH5):c.8498G>A (p.Arg2833His) SNV
Germline		 Chr5:13788865 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3202796 rs_753130398

4 SubmittersRCV000535963RCV005208142RCV005429250
NM_001369.3(DNAH5):c.6970A>G (p.Thr2324Ala) SNV
Germline		 Chr5:13817566 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
DNAH5-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3203227 rs_143074036

8 SubmittersRCV000541637RCV001152114RCV004742485RCV005426093
NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter) SNV
Germline		 Chr5:13820424 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Infertility disorder
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3203285 rs_745918507

12 SubmittersRCV000549276RCV000670288RCV001327941RCV002223859
NM_001369.3(DNAH5):c.6407C>T (p.Thr2136Met) SNV
Germline		 Chr5:13829547 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3203417 rs_140690090

3 SubmittersRCV000545638RCV002481750
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter) SNV
Germline		 Chr5:13830621 Pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359202191 rs_1273352530

6 SubmittersRCV000547103RCV000671066
NM_001369.3(DNAH5):c.5482C>T (p.Gln1828Ter) SNV
Germline		 Chr5:13841694 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359210648 rs_1354919632

2 SubmittersRCV000555592
NM_001369.3(DNAH5):c.5438A>G (p.Glu1813Gly) SNV
Germline		 Chr5:13841738 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
not specified		 Criteria Provided
Conflicting Classifications
 CA3203675 rs_199910966

4 SubmittersRCV000524973RCV005239140
NM_001369.3(DNAH5):c.5146C>T (p.Arg1716Trp) SNV
Germline		 Chr5:13844962 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA3203776 rs_368644722

2 SubmittersRCV000551412
NM_001369.3(DNAH5):c.4133T>C (p.Ile1378Thr) SNV
Germline		 Chr5:13865890 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204053 rs_536502106

3 SubmittersRCV000552355
NM_001369.3(DNAH5):c.3415G>C (p.Asp1139His) SNV
Germline		 Chr5:13871747 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA359233389 rs_1554085372

5 SubmittersRCV000524800RCV005034079
NM_001369.3(DNAH5):c.13633T>C (p.Trp4545Arg) SNV
Germline		 Chr5:13700730 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359191333 rs_1161303371

1 SubmittersRCV000535071
NM_001369.3(DNAH5):c.10858C>T (p.Arg3620Ter) SNV
Germline		 Chr5:13753247 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359190783 rs_1283070426

1 SubmittersRCV000534613
NM_001369.3(DNAH5):c.9230G>T (p.Arg3077Leu) SNV
Germline		 Chr5:13776582 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3202590 rs_113742238

6 SubmittersRCV000541370RCV001151917RCV002298642
NM_001369.3(DNAH5):c.8398G>A (p.Val2800Ile) SNV
Germline		 Chr5:13792044 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3202832 rs_770453841

4 SubmittersRCV000542977RCV004791516
NM_001369.3(DNAH5):c.6551T>C (p.Val2184Ala) SNV
Germline		 Chr5:13824227 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3203363 rs_200805455

4 SubmittersRCV000534344RCV001358439
NM_001369.3(DNAH5):c.5710-2A>G SNV
Germline		 Chr5:13839530 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3203585 rs_548521732

5 SubmittersRCV000532226RCV000763132RCV005429249
NM_001369.3(DNAH5):c.4972A>G (p.Ile1658Val) SNV
Germline		 Chr5:13850794 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3203821 rs_535557021

5 SubmittersRCV000548363RCV003338644RCV003437239
NM_001369.3(DNAH5):c.4796+1G>A SNV
Germline		 Chr5:13862547 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA113973020 rs_989235687

1 SubmittersRCV000537994
NM_001369.3(DNAH5):c.2224C>T (p.Arg742Ter) SNV
Germline		 Chr5:13900241 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3
Respiratory ciliopathies including non-CF bronchiectasis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3204641 rs_776686983

5 SubmittersRCV000559327RCV000760890RCV000763133RCV004787839
NM_001369.3(DNAH5):c.349G>T (p.Glu117Ter) SNV
Germline		 Chr5:13923369 Pathogenic Primary ciliary dyskinesia Criteria Provided
Multiple Submitters
No Conflicts
 CA359223945 rs_116128702

2 SubmittersRCV000528988
NM_001369.3(DNAH5):c.6000C>A (p.Tyr2000Ter) SNV
Germline		 Chr5:13830658 Pathogenic/Likely pathogenic Kartagener syndrome
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359202544 rs_773208371

3 SubmittersRCV000578182RCV002466541RCV003652053
NM_001369.3(DNAH5):c.9898-6C>T SNV
Germline		 Chr5:13766185 Conflicting classifications of pathogenicity Condition: not provided
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA658796502 rs_1554039568

2 SubmittersRCV000594365RCV003767360
NM_001369.3(DNAH5):c.6752C>T (p.Thr2251Met) SNV
Germline		 Chr5:13820435 Conflicting classifications of pathogenicity Condition: not provided
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3203288 rs_146392250

7 SubmittersRCV000597441RCV001153379RCV001084272
NM_001369.3(DNAH5):c.11570+8T>C SNV
Germline		 Chr5:13735810 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3201925 rs_369789559

5 SubmittersRCV000606834RCV000629643RCV001155591RCV003437299RCV003915747
NM_001369.3(DNAH5):c.10195G>A (p.Val3399Ile) SNV
Germline		 Chr5:13762808 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3202312 rs_749397968

3 SubmittersRCV000613757RCV000629269
NM_001369.3(DNAH5):c.3895G>T (p.Val1299Phe) SNV
Germline		 Chr5:13867932 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3204138 rs_767853104

4 SubmittersRCV000612487RCV001829709RCV004742535
NM_001369.3(DNAH5):c.2577+5T>G SNV
Germline		 Chr5:13890971 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3204552 rs_201596289

2 SubmittersRCV000609909RCV002531196
NM_001369.3(DNAH5):c.8512A>C (p.Ser2838Arg) SNV
Germline		 Chr5:13788851 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3202793 rs_763198301

5 SubmittersRCV000629297RCV000765815
NM_001369.3(DNAH5):c.7915C>T (p.Arg2639Ter) SNV
Germline		 Chr5:13794031 Pathogenic Inborn genetic diseases
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3202956 rs_375053470

5 SubmittersRCV000622966RCV000629487RCV006605287
NM_001369.3(DNAH5):c.3598+2T>C SNV
Germline		 Chr5:13871562 Pathogenic/Likely pathogenic Inborn genetic diseases
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided
DNAH5-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA113982044 rs_981267400

9 SubmittersRCV000623850RCV001234224RCV002272304RCV004721483RCV004742538
NM_001369.3(DNAH5):c.12586C>T (p.Gln4196Ter) SNV
Germline		 Chr5:13717434 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359207619 rs_886059965

2 SubmittersRCV000629363RCV005034204
NM_001369.3(DNAH5):c.7892C>T (p.Thr2631Met) SNV
Germline		 Chr5:13794054 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3202959 rs_375200875

6 SubmittersRCV000629433RCV002298714RCV003918000
NM_001369.3(DNAH5):c.5932C>G (p.Pro1978Ala) SNV
Germline		 Chr5:13830726 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3203523 rs_138222058

3 SubmittersRCV000629292
NM_001369.3(DNAH5):c.2481C>T (p.Arg827=) SNV
Germline		 Chr5:13891072 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3204570 rs_777353326

2 SubmittersRCV000629624RCV001154957
NM_001369.3(DNAH5):c.252T>G (p.Tyr84Ter) SNV
Germline		 Chr5:13928119 Pathogenic Primary ciliary dyskinesia Criteria Provided
Multiple Submitters
No Conflicts
 CA3205241 rs_754982008

2 SubmittersRCV000629311
NM_001369.3(DNAH5):c.13689G>C (p.Leu4563Phe) SNV
Germline		 Chr5:13700674 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3201282 rs_374221053

3 SubmittersRCV000629391
NM_001369.3(DNAH5):c.9461A>C (p.Asp3154Ala) SNV
Germline		 Chr5:13770893 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3202542 rs_149187750

5 SubmittersRCV000629403RCV001151914RCV006270407
NM_001369.3(DNAH5):c.8236G>T (p.Val2746Leu) SNV
Germline		 Chr5:13792206 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3202856 rs_773643407

3 SubmittersRCV000629367RCV001591405
NM_001369.3(DNAH5):c.4480C>T (p.Arg1494Trp) SNV
Germline		 Chr5:13864513 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3203970 rs_535366955

5 SubmittersRCV000629378RCV001563797
NM_001369.3(DNAH5):c.13073G>A (p.Arg4358Gln) SNV
Germline		 Chr5:13714457 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3201457 rs_144949095

4 SubmittersRCV000629601RCV001154342RCV002263848
NM_001369.3(DNAH5):c.11653C>T (p.Arg3885Ter) SNV
Germline		 Chr5:13735239 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Respiratory ciliopathies including non-CF bronchiectasis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3201881 rs_756032160

5 SubmittersRCV000629266RCV000778750RCV005431820
NM_001369.3(DNAH5):c.11529G>A (p.Ser3843=) SNV
Germline		 Chr5:13735859 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA443260304 rs_1024441903

2 SubmittersRCV000629641RCV001155592
NM_001369.3(DNAH5):c.10877C>T (p.Thr3626Met) SNV
Germline		 Chr5:13752285 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3202106 rs_376067762

3 SubmittersRCV000629393RCV001526762
NM_001369.3(DNAH5):c.8528T>C (p.Phe2843Ser) SNV
Germline		 Chr5:13788835 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA113956772 rs_77377082

2 SubmittersRCV000629431RCV002499026
NM_001369.3(DNAH5):c.7741A>G (p.Lys2581Glu) SNV
Germline		 Chr5:13809055 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3203018 rs_142302585

4 SubmittersRCV000629287
NM_001369.3(DNAH5):c.12614G>T (p.Gly4205Val) SNV
Germline		 Chr5:13717406 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA113919224 rs_79185772

1 SubmittersRCV000629313
NM_001369.3(DNAH5):c.10615C>T (p.Arg3539Cys) SNV
Germline		 Chr5:13753490 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359192148 rs_1304504006

5 SubmittersRCV000629442RCV004696964RCV005044918
NM_001369.3(DNAH5):c.8404C>T (p.Gln2802Ter) SNV
Germline		 Chr5:13792038 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Condition: not provided
Respiratory ciliopathies including non-CF bronchiectasis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359218951 rs_1193586811

3 SubmittersRCV000629446RCV000760376RCV005253011
NM_001369.3(DNAH5):c.12114A>T (p.Glu4038Asp) SNV
Germline		 Chr5:13721165 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3201732 rs_749640233

3 SubmittersRCV000660382RCV001245743
NM_001369.3(DNAH5):c.7096C>T (p.Arg2366Trp) SNV
Germline		 Chr5:13814739 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA113925311 rs_868151020

5 SubmittersRCV000662279RCV006262347
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter) SNV
Germline		 Chr5:13717403 Pathogenic Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3201583 rs_372118787

6 SubmittersRCV000674101RCV000689854
NM_001369.3(DNAH5):c.11140A>G (p.Ile3714Val) SNV
Germline		 Chr5:13751149 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Condition: not provided
Primary ciliary dyskinesia
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3202043 rs_143185806

6 SubmittersRCV000667283RCV000732319RCV000798835RCV003945700
NM_001369.3(DNAH5):c.382G>A (p.Val128Met) SNV
Germline		 Chr5:13923336 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3205198 rs_200553244

5 SubmittersRCV000680160RCV000796103RCV001756145
NM_001369.3(DNAH5):c.13591G>A (p.Glu4531Lys) SNV
Germline		 Chr5:13700772 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3201302 rs_201242847

6 SubmittersRCV000699961RCV001151155RCV004792404
NM_001369.3(DNAH5):c.12910-1G>C SNV
Germline		 Chr5:13714621 Pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Single Submitter
 CA359202700 rs_1561097225

2 SubmittersRCV000686699RCV001845051
NM_001369.3(DNAH5):c.9897+1G>C SNV
Germline		 Chr5:13768959 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
DNAH5-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA113930688 rs_914675446

2 SubmittersRCV000689365RCV003403594
NM_001369.3(DNAH5):c.8010+3A>G SNV
Germline		 Chr5:13793933 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3202936 rs_748171209

5 SubmittersRCV000703704RCV002223924RCV005034324
NM_001369.3(DNAH5):c.5992G>A (p.Gly1998Arg) SNV
Germline		 Chr5:13830666 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA359202599 rs_1298790222

2 SubmittersRCV000691163
NM_001369.3(DNAH5):c.5059C>T (p.Gln1687Ter) SNV
Germline		 Chr5:13850707 Pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359216914 rs_1188507108

2 SubmittersRCV000698857RCV001078462
NM_001369.3(DNAH5):c.1958C>T (p.Thr653Met) SNV
Germline		 Chr5:13901346 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3204711 rs_201020293

4 SubmittersRCV000707154RCV002282343
NM_001369.3(DNAH5):c.13346G>A (p.Trp4449Ter) SNV
Germline		 Chr5:13701429 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359193774 rs_1561073938

1 SubmittersRCV000692447
NM_001369.3(DNAH5):c.9374-2A>T SNV
Germline		 Chr5:13770982 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359205429 rs_1561215953

1 SubmittersRCV000701709
NM_001369.3(DNAH5):c.9235C>T (p.Arg3079Ter) SNV
Germline		 Chr5:13776577 Pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359208925 rs_1175877764

2 SubmittersRCV000697619RCV005034309
NM_001369.3(DNAH5):c.9034A>T (p.Ile3012Phe) SNV
Germline		 Chr5:13777273 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3202637 rs_368476008

3 SubmittersRCV000691569
NM_001369.3(DNAH5):c.5198C>A (p.Ser1733Ter) SNV
Germline		 Chr5:13844910 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359214105 rs_146087064

1 SubmittersRCV000700397
NM_001369.3(DNAH5):c.3821T>C (p.Val1274Ala) SNV
Germline		 Chr5:13870780 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3204173 rs_761168416

3 SubmittersRCV000687990RCV001154862
NM_001369.3(DNAH5):c.1089+1G>A SNV
Germline		 Chr5:13917142 Pathogenic Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Single Submitter
 CA3204974 rs_574586008

4 SubmittersRCV000694519RCV001580126
NM_001369.3(DNAH5):c.632C>T (p.Ser211Leu) SNV
Germline		 Chr5:13922135 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
DNAH5-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3205142 rs_139857637

6 SubmittersRCV000691815RCV004742577RCV003432737
NM_001369.3(DNAH5):c.11907G>A (p.Trp3969Ter) SNV
Germline		 Chr5:13727633 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359218363 rs_1561122898

1 SubmittersRCV000686675
NM_001369.3(DNAH5):c.11476C>T (p.Leu3826Phe) SNV
Germline		 Chr5:13735912 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided
Situs inversus		 Criteria Provided
Conflicting Classifications
 CA3201943 rs_146750552

11 SubmittersRCV000702699RCV001155593RCV001729690RCV005250097
NM_001369.3(DNAH5):c.9589C>T (p.Arg3197Trp) SNV
Germline		 Chr5:13770765 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3202508 rs_753913853

3 SubmittersRCV000701966
NM_001369.3(DNAH5):c.8449G>T (p.Asp2817Tyr) SNV
Germline		 Chr5:13788914 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359218211 rs_745885469

1 SubmittersRCV000693465
NM_001369.3(DNAH5):c.6268C>T (p.Arg2090Trp) SNV
Germline		 Chr5:13829686 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
not specified		 Criteria Provided
Conflicting Classifications
 CA3203437 rs_774191944

3 SubmittersRCV000686568RCV005240464
NM_001369.3(DNAH5):c.2984-2A>C SNV
Germline		 Chr5:13883096 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3204426 rs_757801770

2 SubmittersRCV000700996RCV002223921
NM_001369.3(DNAH5):c.2260-1G>A SNV
Germline		 Chr5:13894822 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359201556 rs_1561524235

1 SubmittersRCV000686385
NM_001369.3(DNAH5):c.2200C>G (p.Leu734Val) SNV
Germline		 Chr5:13900265 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3204645 rs_139180192

4 SubmittersRCV000698730RCV003144544
NM_001369.3(DNAH5):c.997C>T (p.Arg333Ter) SNV
Germline		 Chr5:13917235 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359218134 rs_771956532

1 SubmittersRCV000694717
NM_001369.3(DNAH5):c.193-2A>G SNV
Germline		 Chr5:13928180 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA3205251 rs_769267893

2 SubmittersRCV000706569
NM_001369.3(DNAH5):c.13338+5G>A SNV
Germline		 Chr5:13708118 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA3201398 rs_374718437

1 SubmittersRCV000693637
NM_001369.3(DNAH5):c.12499+2T>G SNV
Germline		 Chr5:13718880 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359208717 rs_1484826593

1 SubmittersRCV000695016
NM_001369.3(DNAH5):c.9410G>A (p.Cys3137Tyr) SNV
Germline		 Chr5:13770944 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3202548 rs_143357437

2 SubmittersRCV000701844RCV003236836
NM_001369.3(DNAH5):c.9125G>A (p.Arg3042Gln) SNV
Germline		 Chr5:13776687 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3202605 rs_200839716

3 SubmittersRCV000705507RCV002477628
NM_001369.3(DNAH5):c.6444G>A (p.Gln2148=) SNV
Germline		 Chr5:13829510 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA3203407 rs_769544175

2 SubmittersRCV000698945
NM_001369.3(DNAH5):c.439-2A>G SNV
Germline		 Chr5:13922330 Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3205175 rs_565076112

3 SubmittersRCV000692449RCV005046938
NM_001369.3(DNAH5):c.4797-1G>C SNV
Germline		 Chr5:13859606 Pathogenic/Likely pathogenic Condition: not provided
Primary ciliary dyskinesia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359220333 rs_1561449604

2 SubmittersRCV000730516RCV003647803
NM_001369.3(DNAH5):c.271G>T (p.Glu91Ter) SNV
Germline		 Chr5:13928100 Pathogenic Condition: not provided
Primary ciliary dyskinesia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3205237 rs_750649191

2 SubmittersRCV000732076RCV001384589
NM_001369.3(DNAH5):c.9203A>G (p.Glu3068Gly) SNV
Germline		 Chr5:13776609 Conflicting classifications of pathogenicity Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3202596 rs_141571121

5 SubmittersRCV000732316RCV001083277RCV003485638RCV003955465
NM_001369.3(DNAH5):c.2306C>T (p.Ala769Val) SNV
Germline		 Chr5:13894775 Conflicting classifications of pathogenicity Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3204614 rs_200101760

6 SubmittersRCV000734675RCV000800504RCV001156629
NM_001369.3(DNAH5):c.12880A>G (p.Thr4294Ala) SNV
Germline		 Chr5:13716516 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3201513 rs_765649176

4 SubmittersRCV000792988RCV001155176
NM_001369.3(DNAH5):c.12631G>T (p.Glu4211Ter) SNV
Germline		 Chr5:13717389 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359206981 rs_762673561

2 SubmittersRCV000817510RCV005036206
NM_001369.3(DNAH5):c.11804C>A (p.Ser3935Ter) SNV
Germline		 Chr5:13729518 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359220186 rs_1579942510

1 SubmittersRCV000816252
NM_001369.3(DNAH5):c.11320T>C (p.Ser3774Pro) SNV
Germline		 Chr5:13737387 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3202001 rs_766646786

6 SubmittersRCV000806450RCV002477854RCV004693319
NM_001369.3(DNAH5):c.11300G>A (p.Arg3767His) SNV
Germline		 Chr5:13737407 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3202007 rs_138838869

3 SubmittersRCV000805249RCV005367575
NM_001369.3(DNAH5):c.10789G>T (p.Ala3597Ser) SNV
Germline		 Chr5:13753316 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3202139 rs_368959723

4 SubmittersRCV000810306RCV001250557
NM_001369.3(DNAH5):c.10084T>A (p.Phe3362Ile) SNV
Germline		 Chr5:13765993 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3202335 rs_373406041

3 SubmittersRCV000799462
NM_001369.3(DNAH5):c.9694C>T (p.Gln3232Ter) SNV
Germline		 Chr5:13769527 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA113931330 rs_369683202

2 SubmittersRCV000821903RCV005036222
NM_001369.3(DNAH5):c.9534C>A (p.Tyr3178Ter) SNV
Germline		 Chr5:13770820 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359204463 rs_1580150353

1 SubmittersRCV000807854
NM_001369.3(DNAH5):c.9480T>A (p.Cys3160Ter) SNV
Germline		 Chr5:13770874 Pathogenic Primary ciliary dyskinesia Criteria Provided
Multiple Submitters
No Conflicts
 CA3202538 rs_764948792

2 SubmittersRCV000807882
NM_001369.3(DNAH5):c.9124C>T (p.Arg3042Ter) SNV
Germline		 Chr5:13776688 Pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Glycine encephalopathy 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3202606 rs_760595654

3 SubmittersRCV000797061RCV001250558RCV005256684
NM_001369.3(DNAH5):c.8926G>A (p.Val2976Ile) SNV
Germline		 Chr5:13780854 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3202672 rs_752086486

4 SubmittersRCV000795554RCV004692271
NM_001369.3(DNAH5):c.8837G>A (p.Arg2946His) SNV
Germline		 Chr5:13780943 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3202696 rs_140975593

4 SubmittersRCV000818210RCV004693375
NM_001369.3(DNAH5):c.8383C>T (p.Arg2795Ter) SNV
Germline		 Chr5:13792059 Pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3202835 rs_560398270

5 SubmittersRCV000812139RCV006545528
NM_001369.3(DNAH5):c.8167C>T (p.Gln2723Ter) SNV
Germline		 Chr5:13793572 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359221180 rs_1309660408

2 SubmittersRCV000823387
NM_001369.3(DNAH5):c.7985C>G (p.Pro2662Arg) SNV
Germline		 Chr5:13793961 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA113962414 rs_981622980

1 SubmittersRCV000793946
NM_001369.3(DNAH5):c.7823A>T (p.Asp2608Val) SNV
Germline		 Chr5:13807655 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3202994 rs_189971831

3 SubmittersRCV000802292RCV001153279
NM_001369.3(DNAH5):c.5266G>T (p.Glu1756Ter) SNV
Germline		 Chr5:13844842 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359213557 rs_116524991

1 SubmittersRCV000818476
NM_001369.3(DNAH5):c.5162C>G (p.Ser1721Ter) SNV
Germline		 Chr5:13844946 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359214286 rs_1580543538

1 SubmittersRCV000808890
NM_001369.3(DNAH5):c.5037T>A (p.Cys1679Ter) SNV
Germline		 Chr5:13850729 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359217070 rs_1580578744

1 SubmittersRCV000815168
NM_001369.3(DNAH5):c.5036G>A (p.Cys1679Tyr) SNV
Germline		 Chr5:13850730 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359217075 rs_1221785647

1 SubmittersRCV000796716
NM_001369.3(DNAH5):c.4116G>C (p.Gln1372His) SNV
Germline		 Chr5:13866220 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3204076 rs_139463637

5 SubmittersRCV000821322RCV005047114RCV004702458
NM_001369.3(DNAH5):c.3302T>C (p.Val1101Ala) SNV
Germline		 Chr5:13876778 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3204316 rs_376453450

4 SubmittersRCV000817390RCV004777895
NM_001369.3(DNAH5):c.2471T>C (p.Ile824Thr) SNV
Germline		 Chr5:13891082 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204576 rs_147108941

3 SubmittersRCV000805569
NM_001369.3(DNAH5):c.2462A>G (p.Asn821Ser) SNV
Germline		 Chr5:13891091 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204579 rs_750670743

3 SubmittersRCV000801304
NM_001369.3(DNAH5):c.1915C>T (p.Gln639Ter) SNV
Germline		 Chr5:13901389 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359205483 rs_1580809557

1 SubmittersRCV000796160
NM_001369.3(DNAH5):c.1852C>T (p.Arg618Ter) SNV
Germline		 Chr5:13901452 Pathogenic Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia 7		 Criteria Provided
Multiple Submitters
No Conflicts
 CA113944430 rs_778780449

6 SubmittersRCV000798089RCV003128704RCV003448348RCV005863277
NM_001369.3(DNAH5):c.1837G>A (p.Asp613Asn) SNV
Germline		 Chr5:13901467 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3204734 rs_141072655

4 SubmittersRCV000817524RCV001154228
NM_001369.3(DNAH5):c.935T>G (p.Val312Gly) SNV
Germline		 Chr5:13919216 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3205034 rs_762677340

4 SubmittersRCV000824597RCV005036231
NM_001369.3(DNAH5):c.553G>A (p.Glu185Lys) SNV
Germline		 Chr5:13922214 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3205151 rs_752339132

4 SubmittersRCV000821914RCV002487847
NM_001369.3(DNAH5):c.46C>T (p.Arg16Ter) SNV
Germline		 Chr5:13944393 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3205308 rs_772230378

4 SubmittersRCV000810523RCV002507409RCV004723224
NM_001369.3(DNAH5):c.11029-2A>T SNV
Germline		 Chr5:13751262 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
DNAH5-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3202064 rs_369312501

3 SubmittersRCV000799026RCV003983207
NM_001369.3(DNAH5):c.9105+2T>C SNV
Germline		 Chr5:13777200 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359210012 rs_1580179985

1 SubmittersRCV000815740
NM_001369.3(DNAH5):c.5883-2A>G SNV
Germline		 Chr5:13830777 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359203229 rs_1580465796

2 SubmittersRCV000819877RCV005633750
NM_001369.3(DNAH5):c.12499+1G>A SNV
Germline		 Chr5:13718881 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359208738 rs_1579894454

1 SubmittersRCV000817359
NM_001369.3(DNAH5):c.12105G>A (p.Thr4035=) SNV
Germline		 Chr5:13721174 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3201737 rs_199735129

4 SubmittersRCV000860546RCV001155366
NM_001369.3(DNAH5):c.10194C>T (p.Arg3398=) SNV
Germline		 Chr5:13762809 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3202313 rs_371663826

3 SubmittersRCV000862440RCV001153066
NM_001369.3(DNAH5):c.8960A>T (p.Asn2987Ile) SNV
Germline		 Chr5:13777347 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3202647 rs_149489069

4 SubmittersRCV000862485RCV001153166
NM_001369.3(DNAH5):c.7525C>T (p.Arg2509Cys) SNV
Germline		 Chr5:13810143 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3203078 rs_531393117

5 SubmittersRCV000861789RCV001155876RCV003948061
NM_001369.3(DNAH5):c.2047C>T (p.Arg683Trp) SNV
Germline		 Chr5:13901257 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3204695 rs_182512638

4 SubmittersRCV000862925RCV001151162RCV004792558
NM_001369.3(DNAH5):c.1752T>C (p.Gly584=) SNV
Germline		 Chr5:13901552 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3204745 rs_201028861

4 SubmittersRCV000862450RCV001154230
NM_001369.3(DNAH5):c.7752+3A>G SNV
Germline		 Chr5:13809041 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3203017 rs_200385399

3 SubmittersRCV000860730RCV001155874
NM_001369.3(DNAH5):c.11826A>G (p.Thr3942=) SNV
Germline		 Chr5:13729496 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3201828 rs_140220517

3 SubmittersRCV000865664RCV001152950
NM_001369.3(DNAH5):c.11376C>T (p.Ala3792=) SNV
Germline		 Chr5:13737331 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3201988 rs_755149967

3 SubmittersRCV000866917RCV001155594
NM_001369.3(DNAH5):c.9781A>G (p.Lys3261Glu) SNV
Germline		 Chr5:13769076 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3202427 rs_146215039

5 SubmittersRCV000866370RCV001157363RCV001569850
NM_001369.3(DNAH5):c.9751G>T (p.Ala3251Ser) SNV
Germline		 Chr5:13769106 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3202432 rs_139293893

4 SubmittersRCV000866385RCV003485653
NM_001369.3(DNAH5):c.9549G>A (p.Gln3183=) SNV
Germline		 Chr5:13770805 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3202522 rs_147865593

5 SubmittersRCV000865250RCV001151913RCV003955626
NM_001369.3(DNAH5):c.4525G>A (p.Val1509Met) SNV
Germline		 Chr5:13864468 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3203962 rs_140345677

6 SubmittersRCV000864428RCV001156311RCV002290485RCV004742662
NM_001369.3(DNAH5):c.4071C>T (p.Ser1357=) SNV
Germline		 Chr5:13866265 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3204087 rs_201264488

3 SubmittersRCV000864552RCV001158090
NM_001369.3(DNAH5):c.1335C>T (p.Cys445=) SNV
Germline		 Chr5:13913944 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3204872 rs_192739957

2 SubmittersRCV000865981RCV001156732
NM_001369.3(DNAH5):c.1126G>T (p.Ala376Ser) SNV
Germline		 Chr5:13916419 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3204948 rs_201469505

5 SubmittersRCV000865226RCV001151285RCV003928373
NM_001369.3(DNAH5):c.5272-9C>T SNV
Germline		 Chr5:13841913 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3203717 rs_555481241

3 SubmittersRCV001152319RCV001280313
NM_001369.3(DNAH5):c.3397-8G>T SNV
Germline		 Chr5:13871773 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3204279 rs_200694593

2 SubmittersRCV000868160RCV001156532
NM_001369.3(DNAH5):c.11016G>T (p.Gly3672=) SNV
Germline		 Chr5:13752146 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA443248589 rs_1580060938

2 SubmittersRCV000875205RCV001157269
NM_001369.3(DNAH5):c.5817G>A (p.Ala1939=) SNV
Germline		 Chr5:13839421 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3203568 rs_556936569

3 SubmittersRCV000875222RCV001157798
NM_001369.3(DNAH5):c.2235C>T (p.Tyr745=) SNV
Germline		 Chr5:13900230 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3204639 rs_139916610

3 SubmittersRCV000874476RCV001156630
NM_001369.3(DNAH5):c.7888-4A>G SNV
Germline		 Chr5:13794062 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3202962 rs_775268409

5 SubmittersRCV000871656RCV001703242
NM_001369.3(DNAH5):c.12123A>C (p.Pro4041=) SNV
Germline		 Chr5:13721156 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3201731 rs_149580135

3 SubmittersRCV000951988RCV001154534
NM_001369.3(DNAH5):c.9975C>T (p.Cys3325=) SNV
Germline		 Chr5:13766102 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3202363 rs_771715883

4 SubmittersRCV000946138RCV001155681
NM_001369.3(DNAH5):c.8016G>A (p.Thr2672=) SNV
Germline		 Chr5:13793723 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA113962050 rs_112594597

2 SubmittersRCV000897614RCV001152009
NM_001369.3(DNAH5):c.13285C>T (p.Arg4429Ter) SNV
Germline		 Chr5:13708176 Pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359196686 rs_1743041017

3 SubmittersRCV001062192RCV005036364
NM_001369.3(DNAH5):c.12779A>T (p.Asp4260Val) SNV
Germline		 Chr5:13716617 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359204168 rs_1744309029

2 SubmittersRCV001061194
NM_001369.3(DNAH5):c.12596G>A (p.Arg4199His) SNV
Germline		 Chr5:13717424 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA113919237 rs_375694023

4 SubmittersRCV001045457RCV001155177RCV004812377
NM_001369.3(DNAH5):c.12287G>A (p.Trp4096Ter) SNV
Germline		 Chr5:13719094 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359211726 rs_1744699899

1 SubmittersRCV001041285
NM_001369.3(DNAH5):c.11512G>A (p.Glu3838Lys) SNV
Germline		 Chr5:13735876 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3201936 rs_190450522

3 SubmittersRCV001038084
NM_001369.3(DNAH5):c.11438G>A (p.Arg3813Gln) SNV
Germline		 Chr5:13737269 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3201980 rs_143612682

3 SubmittersRCV001046804
NM_001369.3(DNAH5):c.10930G>T (p.Gly3644Ter) SNV
Germline		 Chr5:13752232 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359190253 rs_1750339039

1 SubmittersRCV001047561
NM_001369.3(DNAH5):c.10658G>A (p.Arg3553Gln) SNV
Germline		 Chr5:13753447 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3202158 rs_144393366

6 SubmittersRCV001047486RCV002481936RCV004597953
NM_001369.3(DNAH5):c.10378G>A (p.Val3460Met) SNV
Germline		 Chr5:13758887 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3202260 rs_200012281

3 SubmittersRCV001046571
NM_001369.3(DNAH5):c.9907C>A (p.Pro3303Thr) SNV
Germline		 Chr5:13766170 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3202383 rs_770166503

3 SubmittersRCV001064812RCV003145326
NM_001369.3(DNAH5):c.9346C>T (p.Arg3116Ter) SNV
Germline		 Chr5:13776466 Pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359207968 rs_1264701182

2 SubmittersRCV001067712RCV005036378
NM_001369.3(DNAH5):c.8497C>T (p.Arg2833Cys) SNV
Germline		 Chr5:13788866 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3202797 rs_766481283

3 SubmittersRCV001064655RCV001759831
NM_001369.3(DNAH5):c.6682A>T (p.Arg2228Ter) SNV
Germline		 Chr5:13823268 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359195511 rs_1762460445

1 SubmittersRCV001041058
NM_001369.3(DNAH5):c.5692G>A (p.Asp1898Asn) SNV
Germline		 Chr5:13840923 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3203606 rs_149834171

3 SubmittersRCV001057080
NM_001369.3(DNAH5):c.4880C>T (p.Thr1627Met) SNV
Germline		 Chr5:13859522 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3203853 rs_745381842

3 SubmittersRCV001068187
NM_001369.3(DNAH5):c.4360C>T (p.Arg1454Ter) SNV
Germline		 Chr5:13864633 Pathogenic Primary ciliary dyskinesia 3
DNAH5-related disorder
Primary ciliary dyskinesia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3203994 rs_148139814

5 SubmittersRCV003230628RCV003405268RCV001058415
NM_001369.3(DNAH5):c.3760C>T (p.Arg1254Trp) SNV
Germline		 Chr5:13870841 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204181 rs_749162833

3 SubmittersRCV001058180
NM_001369.3(DNAH5):c.3484C>T (p.Gln1162Ter) SNV
Germline		 Chr5:13871678 Pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3204249 rs_760081822

3 SubmittersRCV001057512RCV001542575
NM_001369.3(DNAH5):c.2734G>T (p.Glu912Ter) SNV
Germline		 Chr5:13885973 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359196053 rs_1772369775

1 SubmittersRCV001058985
NM_001369.3(DNAH5):c.1810T>C (p.Ser604Pro) SNV
Germline		 Chr5:13901494 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3204739 rs_769275003

4 SubmittersRCV001064396RCV004761918
NM_001369.3(DNAH5):c.1648G>A (p.Glu550Lys) SNV
Germline		 Chr5:13902135 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3204771 rs_145962029

3 SubmittersRCV001069124RCV005432568
NM_001369.3(DNAH5):c.1054G>T (p.Glu352Ter) SNV
Germline		 Chr5:13917178 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA3204980 rs_189080233

1 SubmittersRCV001061349
NM_001369.3(DNAH5):c.2744-1G>T SNV
Germline		 Chr5:13885229 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359195926 rs_1772232595

1 SubmittersRCV001058417
NM_001369.3(DNAH5):c.12973C>T (p.Gln4325Ter) SNV
Germline		 Chr5:13714557 Pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359202079 rs_1273109738

1 SubmittersRCV001078446
NM_001369.3(DNAH5):c.8396G>A (p.Arg2799Gln) SNV
Germline		 Chr5:13792046 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA359219019 rs_1182948401

4 SubmittersRCV001078455RCV002436699
NM_001369.3(DNAH5):c.4643T>C (p.Leu1548Pro) SNV
Germline		 Chr5:13862701 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359222305 rs_1768634470

1 SubmittersRCV001078445
NM_001369.3(DNAH5):c.*84C>T SNV
Germline		 Chr5:13691900 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA113905393 rs_151143347

3 SubmittersRCV001158087RCV003438687
NM_001369.3(DNAH5):c.13364G>A (p.Gly4455Asp) SNV
Germline		 Chr5:13701411 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3201379 rs_370684795

7 SubmittersRCV001154227RCV001239110RCV003153933
NM_001369.3(DNAH5):c.13255G>C (p.Asp4419His) SNV
Germline		 Chr5:13708206 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3201412 rs_373749995

2 SubmittersRCV001151280RCV002557262
NM_001369.3(DNAH5):c.12513C>A (p.Asp4171Glu) SNV
Germline		 Chr5:13717507 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3201605 rs_547445590

4 SubmittersRCV001156826RCV001239528
NM_001369.3(DNAH5):c.12217G>A (p.Val4073Met) SNV
Germline		 Chr5:13721062 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3201707 rs_757109346

8 SubmittersRCV001154532RCV001245183
NM_001369.3(DNAH5):c.11998A>T (p.Ile4000Phe) SNV
Germline		 Chr5:13727542 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA359217887 rs_1490888369

3 SubmittersRCV001151710RCV002557272RCV004694951
NM_001369.3(DNAH5):c.11969C>A (p.Ser3990Tyr) SNV
Germline		 Chr5:13727571 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Condition: not provided
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA359218109 rs_1000624148

3 SubmittersRCV001152949RCV004694957RCV002559474
NM_001369.3(DNAH5):c.11616C>G (p.Ile3872Met) SNV
Germline		 Chr5:13735276 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3201891 rs_773699669

3 SubmittersRCV001152951RCV002032409
NM_001369.3(DNAH5):c.11614A>T (p.Ile3872Phe) SNV
Germline		 Chr5:13735278 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3201895 rs_572139897

4 SubmittersRCV001152952RCV002559475
NM_001369.3(DNAH5):c.10639C>T (p.Arg3547Trp) SNV
Germline		 Chr5:13753466 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3202165 rs_747041428

2 SubmittersRCV001151816RCV002559464
NM_001369.3(DNAH5):c.10470C>T (p.Ser3490=) SNV
Germline		 Chr5:13754288 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA443249982 rs_1750680564

2 SubmittersRCV001151817RCV002070840
NM_001369.3(DNAH5):c.10451A>T (p.His3484Leu) SNV
Germline		 Chr5:13754307 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3202221 rs_150532311

3 SubmittersRCV001151819RCV002559465
NM_001369.3(DNAH5):c.10442G>A (p.Arg3481Gln) SNV
Germline		 Chr5:13754316 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3202222 rs_202169624

4 SubmittersRCV001151820RCV002557277RCV005255653
NM_001369.3(DNAH5):c.10377C>T (p.Asp3459=) SNV
Germline		 Chr5:13758888 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3202262 rs_139317626

3 SubmittersRCV001153063RCV001414776
NM_001369.3(DNAH5):c.10192C>T (p.Arg3398Cys) SNV
Germline		 Chr5:13762811 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3202315 rs_147882360

2 SubmittersRCV001153067RCV002559477
NM_001369.3(DNAH5):c.9995G>A (p.Arg3332Lys) SNV
Germline		 Chr5:13766082 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3202358 rs_138968139

3 SubmittersRCV001155680RCV002379660
NM_001369.3(DNAH5):c.9912G>A (p.Ser3304=) SNV
Germline		 Chr5:13766165 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3202380 rs_188218914

2 SubmittersRCV001155683RCV001485068
NM_001369.3(DNAH5):c.9705C>T (p.Asn3235=) SNV
Germline		 Chr5:13769516 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3202467 rs_770064361

3 SubmittersRCV001157365RCV001442574
NM_001369.3(DNAH5):c.9678G>A (p.Ala3226=) SNV
Germline		 Chr5:13769543 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3202472 rs_547729937

3 SubmittersRCV001157367RCV001458154
NM_001369.3(DNAH5):c.9573A>G (p.Glu3191=) SNV
Germline		 Chr5:13770781 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3202513 rs_373510512

2 SubmittersRCV001157369RCV006465503
NM_001369.3(DNAH5):c.9347G>A (p.Arg3116Gln) SNV
Germline		 Chr5:13776465 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3202578 rs_745557874

2 SubmittersRCV001151916RCV001882472
NM_001369.3(DNAH5):c.8936A>G (p.Gln2979Arg) SNV
Germline		 Chr5:13780844 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3202671 rs_148666497

3 SubmittersRCV001153168RCV002070865
NM_001369.3(DNAH5):c.8836C>T (p.Arg2946Cys) SNV
Germline		 Chr5:13780944 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3202697 rs_150899380

3 SubmittersRCV001153169RCV002557297
NM_001369.3(DNAH5):c.8085C>G (p.Thr2695=) SNV
Germline		 Chr5:13793654 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3202902 rs_147427207

2 SubmittersRCV001152007RCV001489189
NM_001369.3(DNAH5):c.7881G>A (p.Met2627Ile) SNV
Germline		 Chr5:13807597 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3202985 rs_369279743

5 SubmittersRCV001153277RCV002557300
NM_001369.3(DNAH5):c.7867A>G (p.Thr2623Ala) SNV
Germline		 Chr5:13807611 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3202988 rs_371099382

2 SubmittersRCV001153278RCV002557302
NM_001369.3(DNAH5):c.7306T>C (p.Tyr2436His) SNV
Germline		 Chr5:13811748 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3203126 rs_373885245

3 SubmittersRCV001157579RCV002559513
NM_001369.3(DNAH5):c.7098G>C (p.Arg2366=) SNV
Germline		 Chr5:13814737 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3203182 rs_768567429

2 SubmittersRCV001152111RCV001446963
NM_001369.3(DNAH5):c.6659C>T (p.Pro2220Leu) SNV
Germline		 Chr5:13823291 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3203323 rs_144308691

3 SubmittersRCV001153381RCV002070866
NM_001369.3(DNAH5):c.6217A>G (p.Met2073Val) SNV
Germline		 Chr5:13830058 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3203463 rs_752077073

5 SubmittersRCV001152214RCV001247854RCV001759908
NM_001369.3(DNAH5):c.6109A>G (p.Ile2037Val) SNV
Germline		 Chr5:13830166 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3203473 rs_200551639

2 SubmittersRCV001152216RCV002557284
NM_001369.3(DNAH5):c.6053T>C (p.Ile2018Thr) SNV
Germline		 Chr5:13830605 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3203497 rs_117989731

3 SubmittersRCV001153507RCV002070870
NM_001369.3(DNAH5):c.5880C>T (p.Asp1960=) SNV
Germline		 Chr5:13839358 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
Situs inversus		 Criteria Provided
Conflicting Classifications
 CA443254894 rs_1764848840

3 SubmittersRCV001156109RCV001409312RCV005250141
NM_001369.3(DNAH5):c.5608T>C (p.Leu1870=) SNV
Germline		 Chr5:13841007 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3203631 rs_763656985

3 SubmittersRCV001157799RCV001456363
NM_001369.3(DNAH5):c.4855A>G (p.Thr1619Ala) SNV
Germline		 Chr5:13859547 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3203859 rs_80164898

2 SubmittersRCV001157897RCV002558388
NM_001369.3(DNAH5):c.4614G>A (p.Ala1538=) SNV
Germline		 Chr5:13862730 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3203919 rs_78667898

3 SubmittersRCV001152429RCV001469195
NM_001369.3(DNAH5):c.4587G>A (p.Glu1529=) SNV
Germline		 Chr5:13864406 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3203945 rs_569428035

4 SubmittersRCV001156310RCV001497051RCV003433055
NM_001369.3(DNAH5):c.4262G>A (p.Ser1421Asn) SNV
Germline		 Chr5:13865761 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3204033 rs_774855042

3 SubmittersRCV001153797RCV002558332
NM_001369.3(DNAH5):c.3934C>T (p.Arg1312Cys) SNV
Germline		 Chr5:13867893 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3204132 rs_781667158

2 SubmittersRCV001154860RCV002558342
NM_001369.3(DNAH5):c.3892A>G (p.Lys1298Glu) SNV
Germline		 Chr5:13867935 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3204139 rs_774680760

3 SubmittersRCV001154861RCV002558343
NM_001369.3(DNAH5):c.3655C>T (p.Arg1219Cys) SNV
Germline		 Chr5:13870946 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3204205 rs_745321705

5 SubmittersRCV001156530RCV001243030RCV003413960
NM_001369.3(DNAH5):c.2951G>A (p.Arg984His) SNV
Germline		 Chr5:13885021 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3204447 rs_780758815

2 SubmittersRCV001154122RCV002557313
NM_001369.3(DNAH5):c.1882T>G (p.Leu628Val) SNV
Germline		 Chr5:13901422 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3204723 rs_143745645

4 SubmittersRCV001151163RCV001858988RCV003918741
NM_001369.3(DNAH5):c.1578A>G (p.Leu526=) SNV
Germline		 Chr5:13911452 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA443275610 rs_1775984639

2 SubmittersRCV001155068RCV001456666
NM_001369.3(DNAH5):c.1305G>A (p.Ala435=) SNV
Germline		 Chr5:13914535 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3204890 rs_766746657

2 SubmittersRCV001151283RCV002070832
NM_001369.3(DNAH5):c.1092A>G (p.Leu364=) SNV
Germline		 Chr5:13916453 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3204953 rs_759149687

2 SubmittersRCV001151286RCV001492218
NM_001369.3(DNAH5):c.1035G>A (p.Val345=) SNV
Germline		 Chr5:13917197 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA113961620 rs_150335023

2 SubmittersRCV001154345RCV002070889
NM_001369.3(DNAH5):c.983G>A (p.Arg328Gln) SNV
Germline		 Chr5:13917249 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3204995 rs_376626613

3 SubmittersRCV001154346RCV002379659
NM_001369.3(DNAH5):c.950C>T (p.Ala317Val) SNV
Germline		 Chr5:13919201 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3205030 rs_199691556

3 SubmittersRCV001155178RCV002070902
NM_001369.3(DNAH5):c.917G>A (p.Ser306Asn) SNV
Germline		 Chr5:13919234 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3205038 rs_144128250

3 SubmittersRCV001155179RCV002070903
NM_001369.3(DNAH5):c.777A>G (p.Val259=) SNV
Germline		 Chr5:13920501 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA443276070 rs_1580893242

2 SubmittersRCV001155180RCV002070904
NM_001369.3(DNAH5):c.765T>C (p.Asp255=) SNV
Germline		 Chr5:13920513 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3205105 rs_767772613

2 SubmittersRCV001155181RCV002070905
NM_001369.3(DNAH5):c.727C>G (p.Leu243Val) SNV
Germline		 Chr5:13920551 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3205110 rs_761877376

2 SubmittersRCV001155182RCV002559494
NM_001369.3(DNAH5):c.362T>C (p.Val121Ala) SNV
Germline		 Chr5:13923356 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3205202 rs_752992572

3 SubmittersRCV001156829RCV002558367
NM_001369.3(DNAH5):c.294A>T (p.Leu98=) SNV
Germline		 Chr5:13923424 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA443276452 rs_1458038548

2 SubmittersRCV001151414RCV001394406
NM_001369.3(DNAH5):c.40G>A (p.Val14Ile) SNV
Germline		 Chr5:13944399 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA113933395 rs_1015850611

2 SubmittersRCV001154438RCV002558337
NM_001369.3(DNAH5):c.13492-11G>T SNV
Germline		 Chr5:13700882 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3201319 rs_749125197

2 SubmittersRCV001151156RCV003650604
NM_001369.3(DNAH5):c.8821-14G>A SNV
Germline		 Chr5:13780973 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA1139658763 rs_769508388

2 SubmittersRCV001155772RCV003647827
NM_001369.3(DNAH5):c.7408-14T>C SNV
Germline		 Chr5:13810274 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA557876643 rs_1454703878

2 SubmittersRCV001157577RCV002070940
NM_001369.3(DNAH5):c.6989-14G>T SNV
Germline		 Chr5:13814860 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3203198 rs_368353964

2 SubmittersRCV001152113RCV002070845
NM_001369.3(DNAH5):c.4116+15T>C SNV
Germline		 Chr5:13866205 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3204074 rs_201947846

2 SubmittersRCV001156427RCV002070923
NM_001369.3(DNAH5):c.2743+12G>A SNV
Germline		 Chr5:13885952 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA557877045 rs_1380292180

2 SubmittersRCV001154123RCV003650605
NM_001369.3(DNAH5):c.1537-10A>T SNV
Germline		 Chr5:13911503 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3204814 rs_777597757

2 SubmittersRCV001155069RCV001494730
NM_001369.3(DNAH5):c.1090-14G>T SNV
Germline		 Chr5:13916469 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3204958 rs_150627172

2 SubmittersRCV001154344RCV002070888
NM_001369.3(DNAH5):c.661-8C>T SNV
Germline		 Chr5:13920625 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA557875560 rs_1227311322

2 SubmittersRCV001155183RCV002559495
NM_001369.3(DNAH5):c.57+14G>T SNV
Germline		 Chr5:13944368 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3205302 rs_756464306

2 SubmittersRCV001154436RCV003650606
NM_001369.3(DNAH5):c.13413G>A (p.Trp4471Ter) SNV
Unknown		 Chr5:13701362 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA359192900 rs_1742093744

1 SubmittersRCV001170056
NM_001369.3(DNAH5):c.3949C>T (p.Gln1317Ter) SNV
Unknown		 Chr5:13867878 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359229059 rs_1769508571

1 SubmittersRCV001268923
NM_001369.3(DNAH5):c.12813G>A (p.Trp4271Ter) SNV
Germline		 Chr5:13716583 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359204006 rs_763259925

1 SubmittersRCV001219895
NM_001369.3(DNAH5):c.11941G>T (p.Glu3981Ter) SNV
Germline		 Chr5:13727599 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359218277 rs_1745928643

1 SubmittersRCV001218542
NM_001369.3(DNAH5):c.11536C>T (p.Gln3846Ter) SNV
Germline		 Chr5:13735852 Pathogenic Primary ciliary dyskinesia
DNAH5-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359224668 rs_1443845070

2 SubmittersRCV001214836RCV003398948
NM_001369.3(DNAH5):c.8827C>T (p.Arg2943Cys) SNV
Germline		 Chr5:13780953 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
not specified
Respiratory ciliopathies including non-CF bronchiectasis		 Criteria Provided
Conflicting Classifications
 CA3202699 rs_758324905

5 SubmittersRCV001221360RCV005236693RCV005253745
NM_001369.3(DNAH5):c.3912T>G (p.Tyr1304Ter) SNV
Germline		 Chr5:13867915 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359229333 rs_1769515132

1 SubmittersRCV001221240
NM_001369.3(DNAH5):c.2717G>C (p.Ser906Thr) SNV
Germline		 Chr5:13885990 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3204516 rs_540038644

3 SubmittersRCV001217001RCV004761992
NM_001369.3(DNAH5):c.2050C>T (p.Gln684Ter) SNV
Germline		 Chr5:13901254 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359204694 rs_1774569874

1 SubmittersRCV001219794
NM_001369.3(DNAH5):c.886A>T (p.Lys296Ter) SNV
Germline		 Chr5:13919265 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359219014 rs_545061430

1 SubmittersRCV001224890
NM_001369.3(DNAH5):c.13443G>A (p.Trp4481Ter) SNV
Germline		 Chr5:13701332 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359192583 rs_1742088018

3 SubmittersRCV001211559RCV002259385RCV005232174
NM_001369.3(DNAH5):c.12495T>A (p.Tyr4165Ter) SNV
Germline		 Chr5:13718886 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359208777 rs_373536906

1 SubmittersRCV001210718
NM_001369.3(DNAH5):c.11026A>T (p.Lys3676Ter) SNV
Germline		 Chr5:13752136 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359189625 rs_1750322897

1 SubmittersRCV001210646
NM_001369.3(DNAH5):c.10472C>T (p.Thr3491Met) SNV
Germline		 Chr5:13754286 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3202217 rs_760010021

3 SubmittersRCV001208238
NM_001369.3(DNAH5):c.10435G>A (p.Ala3479Thr) SNV
Germline		 Chr5:13754323 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3202225 rs_143295106

5 SubmittersRCV001204898RCV002298902RCV003918778
NM_001369.3(DNAH5):c.9778C>T (p.Gln3260Ter) SNV
Germline		 Chr5:13769079 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Condition: not provided
Respiratory ciliopathies including non-CF bronchiectasis
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359202092 rs_1752923333

5 SubmittersRCV001213300RCV001580018RCV004584146RCV005036470
NM_001369.3(DNAH5):c.5147G>C (p.Arg1716Pro) SNV
Germline		 Chr5:13844961 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359214371 rs_74799487

2 SubmittersRCV001202749
NM_001369.3(DNAH5):c.5131C>T (p.Arg1711Ter) SNV
Germline		 Chr5:13844977 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3203780 rs_760869074

2 SubmittersRCV001208854RCV005040020
NM_001369.3(DNAH5):c.9373+1G>C SNV
Germline		 Chr5:13776438 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359207665 rs_1754098584

1 SubmittersRCV001203624
NM_001369.3(DNAH5):c.7888-2A>G SNV
Germline		 Chr5:13794060 Likely pathogenic Primary ciliary dyskinesia
DNAH5-related disorder		 Criteria Provided
Single Submitter
 CA359222527 rs_1230911299

2 SubmittersRCV001212837RCV004726971
NM_001369.3(DNAH5):c.2578-1G>A SNV
Germline		 Chr5:13886130 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359196963 rs_1166599454

1 SubmittersRCV001208369
NM_001369.3(DNAH5):c.193-1G>A SNV
Germline		 Chr5:13928179 Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359227597 rs_369193065

2 SubmittersRCV001223597RCV005633961
NM_001369.3(DNAH5):c.58-1G>A SNV
Germline		 Chr5:13931245 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359230588 rs_1778386695

1 SubmittersRCV001218629
NM_001369.3(DNAH5):c.12107G>A (p.Trp4036Ter) SNV
Germline		 Chr5:13721172 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3201735 rs_760104757

4 SubmittersRCV001225492RCV001780155
NM_001369.3(DNAH5):c.11263A>T (p.Arg3755Ter) SNV
Germline		 Chr5:13737444 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359228572 rs_1747686698

1 SubmittersRCV001235426
NM_001369.3(DNAH5):c.8966C>G (p.Ser2989Ter) SNV
Germline		 Chr5:13777341 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359211453 rs_1754250771

1 SubmittersRCV001225463
NM_001369.3(DNAH5):c.7276C>T (p.Gln2426Ter) SNV
Germline		 Chr5:13811778 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359189498 rs_1760754570

1 SubmittersRCV001238651
NM_001369.3(DNAH5):c.5658C>G (p.Tyr1886Ter) SNV
Germline		 Chr5:13840957 Pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359209052 rs_6880264

2 SubmittersRCV001231642RCV004796381
NM_001369.3(DNAH5):c.4562A>G (p.Glu1521Gly) SNV
Germline		 Chr5:13864431 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3203955 rs_374248199

3 SubmittersRCV001235641
NM_001369.3(DNAH5):c.4502C>T (p.Thr1501Ile) SNV
Germline		 Chr5:13864491 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3203966 rs_368448770

3 SubmittersRCV001235640
NM_001369.3(DNAH5):c.3259C>T (p.Gln1087Ter) SNV
Germline		 Chr5:13882731 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359191605 rs_1771846004

1 SubmittersRCV001232542
NM_001369.3(DNAH5):c.1823C>G (p.Thr608Arg) SNV
Germline		 Chr5:13901481 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204737 rs_781059966

3 SubmittersRCV001233570
NM_001369.3(DNAH5):c.670C>T (p.Arg224Ter) SNV
Germline		 Chr5:13920608 Pathogenic Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3205119 rs_771463510

2 SubmittersRCV001226504RCV006250976
NM_001369.3(DNAH5):c.13159C>T (p.Gln4387Ter) SNV
Germline		 Chr5:13708302 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359198088 rs_1195383216

1 SubmittersRCV001245501
NM_001369.3(DNAH5):c.12727C>T (p.Arg4243Cys) SNV
Germline		 Chr5:13716669 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3201535 rs_150357258

3 SubmittersRCV001247726
NM_001369.3(DNAH5):c.11803T>A (p.Ser3935Thr) SNV
Germline		 Chr5:13729519 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3201832 rs_145685491

6 SubmittersRCV001241635RCV002264246RCV003393909
NM_001369.3(DNAH5):c.11326G>A (p.Val3776Ile) SNV
Germline		 Chr5:13737381 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3201998 rs_559545340

3 SubmittersRCV001246072RCV003145484
NM_001369.3(DNAH5):c.10774A>C (p.Ile3592Leu) SNV
Germline		 Chr5:13753331 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3202142 rs_758395320

5 SubmittersRCV001239596RCV001815523RCV002491785
NM_001369.3(DNAH5):c.10731C>G (p.Asn3577Lys) SNV
Germline		 Chr5:13753374 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3202146 rs_376292253

4 SubmittersRCV001240939RCV001587270
NM_001369.3(DNAH5):c.10041G>T (p.Met3347Ile) SNV
Germline		 Chr5:13766036 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided
Hepatocellular carcinoma		 Criteria Provided
Conflicting Classifications
 CA3202345 rs_536239913

5 SubmittersRCV001247993RCV003328665RCV005909189
NM_001369.3(DNAH5):c.9626A>G (p.Lys3209Arg) SNV
Germline		 Chr5:13769595 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3202477 rs_201473584

4 SubmittersRCV001241751RCV004793342
NM_001369.3(DNAH5):c.9065C>A (p.Ser3022Ter) SNV
Germline		 Chr5:13777242 Pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359210516 rs_1754226636

2 SubmittersRCV001244126RCV006548013
NM_001369.3(DNAH5):c.8184T>G (p.Asn2728Lys) SNV
Germline		 Chr5:13793555 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA359221063 rs_1469012975

4 SubmittersRCV001245811RCV005051875
NM_001369.3(DNAH5):c.6556C>T (p.Arg2186Trp) SNV
Germline		 Chr5:13824222 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3203362 rs_756444637

3 SubmittersRCV001243648RCV002499408
NM_001369.3(DNAH5):c.6049C>T (p.Arg2017Trp) SNV
Germline		 Chr5:13830609 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3203498 rs_143679999

4 SubmittersRCV001245173RCV001532030
NM_001369.3(DNAH5):c.4269A>G (p.Ile1423Met) SNV
Germline		 Chr5:13865754 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3204030 rs_779020258

4 SubmittersRCV001246602RCV004778029
NM_001369.3(DNAH5):c.3428G>A (p.Arg1143His) SNV
Germline		 Chr5:13871734 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204269 rs_150739124

3 SubmittersRCV001246732
NM_001369.3(DNAH5):c.3037A>G (p.Ser1013Gly) SNV
Germline		 Chr5:13883041 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3204411 rs_369783406

4 SubmittersRCV001243106RCV002484338
NM_001369.3(DNAH5):c.6445-2A>G SNV
Germline		 Chr5:13824335 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359198194 rs_1309120344

1 SubmittersRCV001227038
NM_001369.3(DNAH5):c.2260-2A>G SNV
Germline		 Chr5:13894823 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359201564 rs_1773706886

1 SubmittersRCV001227330
NM_001369.3(DNAH5):c.6444+1G>A SNV
Germline		 Chr5:13829509 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA3203406 rs_781236248

2 SubmittersRCV001245609
NM_001369.3(DNAH5):c.12473G>A (p.Arg4158Gln) SNV
Germline		 Chr5:13718908 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3201630 rs_376927687

5 SubmittersRCV001255286RCV004692358RCV005232222
NM_001369.3(DNAH5):c.6657C>A (p.Tyr2219Ter) SNV
Germline		 Chr5:13823293 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359195655 rs_1270916321

4 SubmittersRCV001255302RCV003485698
NM_001369.3(DNAH5):c.6308C>A (p.Ser2103Ter) SNV
Germline		 Chr5:13829646 Pathogenic/Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Multiple Submitters
No Conflicts
 CA3203430 rs_769260126

2 SubmittersRCV001255288
NM_001369.3(DNAH5):c.5582A>C (p.Gln1861Pro) SNV
Germline		 Chr5:13841033 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
not specified		 Criteria Provided
Conflicting Classifications
 CA3203634 rs_780320440

3 SubmittersRCV001255259RCV005419056
NM_001369.3(DNAH5):c.1602C>A (p.Asp534Glu) SNV
Germline		 Chr5:13911428 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA359211891 rs_753367747

2 SubmittersRCV001255247
NM_001369.3(DNAH5):c.277G>A (p.Gly93Arg) SNV
Germline		 Chr5:13928094 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA359226469 rs_1428534050

3 SubmittersRCV001255291
NM_001369.3(DNAH5):c.11028+2T>C SNV
Germline		 Chr5:13752132 Pathogenic/Likely pathogenic Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359189605 rs_773447251

3 SubmittersRCV001283849RCV001871649
NM_001369.3(DNAH5):c.7967T>C (p.Ile2656Thr) SNV
Germline		 Chr5:13793979 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA3202943 rs_752318477

1 SubmittersRCV001594418
NM_001369.3(DNAH5):c.12250C>T (p.Arg4084Trp) SNV
Germline		 Chr5:13721029 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3201703 rs_752895938

3 SubmittersRCV001316185
NM_001369.3(DNAH5):c.6088T>G (p.Cys2030Gly) SNV
Germline		 Chr5:13830187 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359201718 rs_1763453207

3 SubmittersRCV001315694RCV005038066
NM_001369.3(DNAH5):c.536C>T (p.Thr179Met) SNV
Germline		 Chr5:13922231 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3205157 rs_747116308

3 SubmittersRCV001317298
NM_001369.3(DNAH5):c.12907C>T (p.Gln4303Ter) SNV
Unknown		 Chr5:13716489 Pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359203525 rs_371030180

1 SubmittersRCV001328811
NM_001369.3(DNAH5):c.5552T>C (p.Phe1851Ser) SNV
Germline		 Chr5:13841063 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3203639 rs_368576880

3 SubmittersRCV001342060RCV002486383
NM_001369.3(DNAH5):c.6385G>C (p.Val2129Leu) SNV
Germline		 Chr5:13829569 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3203420 rs_150095347

3 SubmittersRCV001360830
NM_001369.3(DNAH5):c.477C>T (p.Gly159=) SNV
Germline		 Chr5:13922290 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA113967166 rs_897766386

3 SubmittersRCV001372282RCV003416291
NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter) SNV
Germline		 Chr5:13692085 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3201246 rs_758112779

7 SubmittersRCV001376959RCV002493914
NM_001369.3(DNAH5):c.13338+1G>C SNV
Germline		 Chr5:13708122 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Multiple Submitters
No Conflicts
 CA359196212 rs_1219958424

3 SubmittersRCV001379179
NM_001369.3(DNAH5):c.12909+2T>C SNV
Germline		 Chr5:13716485 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359203503 rs_2126503314

1 SubmittersRCV001378540
NM_001369.3(DNAH5):c.11761+2T>A SNV
Germline		 Chr5:13735129 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359222399 rs_2126606448

1 SubmittersRCV001376934
NM_001369.3(DNAH5):c.11570+2T>C SNV
Germline		 Chr5:13735816 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359224473 rs_2126610509

1 SubmittersRCV001379101
NM_001369.3(DNAH5):c.11028+1G>C SNV
Germline		 Chr5:13752133 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359189609 rs_2126694391

1 SubmittersRCV001378608
NM_001369.3(DNAH5):c.9897+1G>A SNV
Germline		 Chr5:13768959 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359201211 rs_914675446

1 SubmittersRCV001377187
NM_001369.3(DNAH5):c.6841+1G>C SNV
Germline		 Chr5:13820345 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359194647 rs_2151814082

1 SubmittersRCV001379561
NM_001369.3(DNAH5):c.6250-2A>G SNV
Germline		 Chr5:13829706 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359200505 rs_2151835519

1 SubmittersRCV001379932
NM_001369.3(DNAH5):c.4054-1G>A SNV
Germline		 Chr5:13866283 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359226974 rs_2151911687

1 SubmittersRCV001377082
NM_001369.3(DNAH5):c.1321-2A>G SNV
Germline		 Chr5:13913960 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359214666 rs_2151981226

1 SubmittersRCV001377584
NM_001369.3(DNAH5):c.12238G>T (p.Glu4080Ter) SNV
Germline		 Chr5:13721041 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359213277 rs_142761474

1 SubmittersRCV001390156
NM_001369.3(DNAH5):c.10825C>T (p.Gln3609Ter) SNV
Germline		 Chr5:13753280 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3202132 rs_749980719

2 SubmittersRCV001385303RCV005038195
NM_001369.3(DNAH5):c.9877G>T (p.Glu3293Ter) SNV
Germline		 Chr5:13768980 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359201339 rs_2126775977

1 SubmittersRCV001386219
NM_001369.3(DNAH5):c.9799C>T (p.Gln3267Ter) SNV
Germline		 Chr5:13769058 Pathogenic Primary ciliary dyskinesia Criteria Provided
Multiple Submitters
No Conflicts
 CA359201959 rs_923842695

3 SubmittersRCV001389475
NM_001369.3(DNAH5):c.9399T>A (p.Tyr3133Ter) SNV
Germline		 Chr5:13770955 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359205312 rs_1753258436

1 SubmittersRCV001382450
NM_001369.3(DNAH5):c.9280A>T (p.Lys3094Ter) SNV
Germline		 Chr5:13776532 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359208558 rs_2126810319

1 SubmittersRCV001387064
NM_001369.3(DNAH5):c.8821-1G>T SNV
Germline		 Chr5:13780960 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359213002 rs_1060501454

1 SubmittersRCV001389949
NM_001369.3(DNAH5):c.8250T>A (p.Cys2750Ter) SNV
Germline		 Chr5:13792192 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359219735 rs_2126901167

1 SubmittersRCV001385491
NM_001369.3(DNAH5):c.7821T>G (p.Tyr2607Ter) SNV
Germline		 Chr5:13807657 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359228212 rs_2126996872

1 SubmittersRCV001390675
NM_001369.3(DNAH5):c.7616G>A (p.Trp2539Ter) SNV
Germline		 Chr5:13809180 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359231069 rs_2127007326

1 SubmittersRCV001389501
NM_001369.3(DNAH5):c.7407+1G>A SNV
Germline		 Chr5:13811646 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Condition: not provided
DNAH5-related disorder
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3203105 rs_749711805

5 SubmittersRCV001386279RCV002259391RCV003898365RCV005232305
NM_001369.3(DNAH5):c.5883-1G>C SNV
Germline		 Chr5:13830776 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359203215 rs_1195745037

1 SubmittersRCV001382794
NM_001369.3(DNAH5):c.5883-1G>A SNV
Germline		 Chr5:13830776 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359203217 rs_1195745037

3 SubmittersRCV001382388RCV005040250
NM_001369.3(DNAH5):c.5769C>G (p.Tyr1923Ter) SNV
Germline		 Chr5:13839469 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359206977 rs_2151857318

1 SubmittersRCV001381691
NM_001369.3(DNAH5):c.4596+1G>T SNV
Germline		 Chr5:13864396 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359223527 rs_2151908362

1 SubmittersRCV001385978
NM_001369.3(DNAH5):c.4201C>T (p.Gln1401Ter) SNV
Germline		 Chr5:13865822 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359225329 rs_1341570153

1 SubmittersRCV001380903
NM_001369.3(DNAH5):c.4084C>T (p.Gln1362Ter) SNV
Germline		 Chr5:13866252 Pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359226371 rs_1210217648

2 SubmittersRCV001389483RCV006548247
NM_001369.3(DNAH5):c.3529C>T (p.Gln1177Ter) SNV
Germline		 Chr5:13871633 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA113982083 rs_1050312639

1 SubmittersRCV001388131
NM_001369.3(DNAH5):c.2752G>T (p.Glu918Ter) SNV
Germline		 Chr5:13885220 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359195893 rs_2151941841

1 SubmittersRCV001382108
NM_001369.3(DNAH5):c.2660T>A (p.Leu887Ter) SNV
Germline		 Chr5:13886047 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359196463 rs_2151943036

1 SubmittersRCV001388278
NM_001369.3(DNAH5):c.1326C>G (p.Tyr442Ter) SNV
Germline		 Chr5:13913953 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359214631 rs_1291311803

1 SubmittersRCV001382991
NM_001369.3(DNAH5):c.985G>T (p.Glu329Ter) SNV
Germline		 Chr5:13917247 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359218212 rs_2151986932

1 SubmittersRCV001390018
NM_001369.3(DNAH5):c.980G>A (p.Trp327Ter) SNV
Germline		 Chr5:13917252 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359218234 rs_1776744623

1 SubmittersRCV001384734
NM_001369.3(DNAH5):c.768C>A (p.Cys256Ter) SNV
Germline		 Chr5:13920510 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359220354 rs_2151992604

1 SubmittersRCV001385023
NM_001369.3(DNAH5):c.9999A>G (p.Lys3333=) SNV
Germline		 Chr5:13766078 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA113928101 rs_1038607014

2 SubmittersRCV001469217
NM_001369.3(DNAH5):c.7734C>T (p.Thr2578=) SNV
Germline		 Chr5:13809062 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA443272352 rs_1222953554

2 SubmittersRCV001478072RCV005038237
NM_001369.3(DNAH5):c.11556C>T (p.Asp3852=) SNV
Germline		 Chr5:13735832 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3201929 rs_745961446

2 SubmittersRCV001487905RCV004571027
NM_001369.3(DNAH5):c.2047C>A (p.Arg683=) SNV
Germline		 Chr5:13901257 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA443536650 rs_182512638

2 SubmittersRCV001499760RCV003438839
NM_001369.3(DNAH5):c.1396G>A (p.Glu466Lys) SNV
Germline		 Chr5:13913883 Conflicting classifications of pathogenicity Condition: not provided
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3204864 rs_377439232

2 SubmittersRCV001532033RCV002568200
NM_001369.3(DNAH5):c.2052+1G>T SNV
Germline		 Chr5:13901251 Likely pathogenic Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359204672 rs_1774569455

3 SubmittersRCV001543668RCV002421183
NM_001369.3(DNAH5):c.1114A>G (p.Thr372Ala) SNV
Germline		 Chr5:13916431 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
DNAH5-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3204949 rs_140227610

7 SubmittersRCV001543694RCV002071964RCV004743545RCV004774458
NM_001369.3(DNAH5):c.9919G>A (p.Ala3307Thr) SNV
Germline		 Chr5:13766158 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3202377 rs_757212818

3 SubmittersRCV001563798RCV002568426
NM_001369.3(DNAH5):c.7309C>G (p.Arg2437Gly) SNV
Germline		 Chr5:13811745 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3203125 rs_201469471

4 SubmittersRCV001563725RCV002072147
NM_001369.3(DNAH5):c.4016T>G (p.Leu1339Arg) SNV
Germline		 Chr5:13867811 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3204116 rs_367816483

4 SubmittersRCV001563726RCV001882660RCV006279688
NM_001369.3(DNAH5):c.2867G>A (p.Arg956His) SNV
Germline		 Chr5:13885105 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3204465 rs_752260329

2 SubmittersRCV001563729RCV001882661
NM_001369.3(DNAH5):c.972G>A (p.Leu324=) SNV
Germline		 Chr5:13919179 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3205022 rs_757404057

2 SubmittersRCV002568427RCV001563799
NM_001369.3(DNAH5):c.7573G>A (p.Gly2525Arg) SNV
Germline		 Chr5:13810095 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3203071 rs_771328747

2 SubmittersRCV001580359
NM_001369.3(DNAH5):c.9088G>C (p.Val3030Leu) SNV
Germline		 Chr5:13777219 Conflicting classifications of pathogenicity Condition: not provided
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3202628 rs_772987380

2 SubmittersRCV001773404RCV002540590
NM_001369.3(DNAH5):c.2578-5G>T SNV
Germline		 Chr5:13886134 Conflicting classifications of pathogenicity Condition: not provided
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA113933851 rs_76559205

2 SubmittersRCV003238544RCV006616554
NM_001369.3(DNAH5):c.4597-1G>A SNV
Germline		 Chr5:13862748 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359222759 rs_2151905981

1 SubmittersRCV001780975
NM_001369.3(DNAH5):c.4924G>A (p.Gly1642Arg) SNV
Germline		 Chr5:13859478 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Condition: not provided
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3203846 rs_150050027

6 SubmittersRCV001804225RCV002221686RCV002542373
NM_001369.3(DNAH5):c.4442C>T (p.Pro1481Leu) SNV
Germline		 Chr5:13864551 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Condition: not provided
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3203977 rs_144958262

5 SubmittersRCV001804233RCV002221687RCV002542374
NM_001369.3(DNAH5):c.8032C>T (p.Gln2678Ter) SNV
Germline		 Chr5:13793707 Pathogenic/Likely pathogenic Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA113961993 rs_988596344

3 SubmittersRCV001815937RCV001869647RCV005038338
NM_001369.3(DNAH5):c.6988+2T>C SNV
Germline		 Chr5:13817546 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359192391 rs_2151806960

2 SubmittersRCV001849586
NM_001369.3(DNAH5):c.1731-2A>T SNV
Germline		 Chr5:13901575 Likely pathogenic Primary ciliary dyskinesia No Assertion Criteria Provided
 CA359207563 rs_2151963411

1 SubmittersRCV001849587
NM_001369.3(DNAH5):c.4117-2A>G SNV
Germline		 Chr5:13865908 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359225886 rs_1467301649

2 SubmittersRCV001849588
NM_001369.3(DNAH5):c.12009G>A (p.Trp4003Ter) SNV
Germline		 Chr5:13727531 Pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359217792 rs_2126564103

3 SubmittersRCV001849589RCV002503344
NM_001369.3(DNAH5):c.11571-1G>A SNV
Germline		 Chr5:13735322 Pathogenic Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359223783 rs_1481337703

2 SubmittersRCV001849888RCV001885424
NM_001369.3(DNAH5):c.12397G>T (p.Glu4133Ter) SNV
Germline		 Chr5:13718984 Pathogenic Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359210417 rs_376372961

2 SubmittersRCV001849891RCV001885425
NM_001369.3(DNAH5):c.12500-1G>A SNV
Germline		 Chr5:13717521 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359208538 rs_1744470051

1 SubmittersRCV001920562
NM_001369.3(DNAH5):c.5926G>T (p.Gly1976Ter) SNV
Germline		 Chr5:13830732 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA3203525 rs_751690064

1 SubmittersRCV001902763
NM_001369.3(DNAH5):c.7288G>T (p.Glu2430Ter) SNV
Germline		 Chr5:13811766 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359189471 rs_575491117

1 SubmittersRCV001958053
NM_001369.3(DNAH5):c.5827C>T (p.Gln1943Ter) SNV
Germline		 Chr5:13839411 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359206459 rs_2151857133

1 SubmittersRCV001974937
NM_001369.3(DNAH5):c.4597-1G>T SNV
Germline		 Chr5:13862748 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359222765 rs_2151905981

1 SubmittersRCV002015486
NM_001369.3(DNAH5):c.8225-2A>G SNV
Germline		 Chr5:13792219 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359219887 rs_2126901340

1 SubmittersRCV002050355
NM_001369.3(DNAH5):c.6757A>T (p.Arg2253Ter) SNV
Germline		 Chr5:13820430 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359194849 rs_2151814381

1 SubmittersRCV001894259
NM_001369.3(DNAH5):c.13798G>A (p.Ala4600Thr) SNV
Germline		 Chr5:13692061 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3201237 rs_774279588

2 SubmittersRCV001878673
NM_001369.3(DNAH5):c.9379G>T (p.Glu3127Ter) SNV
Germline		 Chr5:13770975 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA113933156 rs_758303032

1 SubmittersRCV001994566
NM_001369.3(DNAH5):c.1933C>T (p.Gln645Ter) SNV
Germline		 Chr5:13901371 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359205386 rs_2151962965

1 SubmittersRCV001929586
NM_001369.3(DNAH5):c.6453T>A (p.Tyr2151Ter) SNV
Germline		 Chr5:13824325 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359198099 rs_2151824052

1 SubmittersRCV001941638
NM_001369.3(DNAH5):c.3184C>T (p.Gln1062Ter) SNV
Germline		 Chr5:13882806 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359192460 rs_1440167859

1 SubmittersRCV001921110
NM_001369.3(DNAH5):c.1569C>G (p.Tyr523Ter) SNV
Germline		 Chr5:13911461 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359212040 rs_2151977768

1 SubmittersRCV001960454
NM_001369.3(DNAH5):c.8000G>A (p.Trp2667Ter) SNV
Germline		 Chr5:13793946 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359221788 rs_1757433662

1 SubmittersRCV001900048
NM_001369.3(DNAH5):c.8386G>C (p.Asp2796His) SNV
Germline		 Chr5:13792056 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359219061 rs_2126899976

1 SubmittersRCV002049980
NM_001369.3(DNAH5):c.7888-1G>A SNV
Germline		 Chr5:13794059 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359222506 rs_767603357

1 SubmittersRCV002018232
NM_001369.3(DNAH5):c.7369C>T (p.Gln2457Ter) SNV
Germline		 Chr5:13811685 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359189134 rs_2127026486

2 SubmittersRCV001907348RCV005635239
NM_001369.3(DNAH5):c.3675C>G (p.Tyr1225Ter) SNV
Germline		 Chr5:13870926 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3204200 rs_769582678

2 SubmittersRCV001992469RCV002507665
NM_001369.3(DNAH5):c.850C>T (p.Arg284Ter) SNV
Germline		 Chr5:13919301 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359219175 rs_777361601

1 SubmittersRCV001897039
NM_001369.3(DNAH5):c.9018C>T (p.Gly3006=) SNV
Germline		 Chr5:13777289 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA443257074 rs_1754239719

2 SubmittersRCV001953724RCV005032014
NM_001369.3(DNAH5):c.2113G>T (p.Glu705Ter) SNV
Germline		 Chr5:13900352 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359203739 rs_780489890

1 SubmittersRCV001953779
NM_001369.3(DNAH5):c.12664C>T (p.Gln4222Ter) SNV
Germline		 Chr5:13717356 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359206531 rs_2126508639

1 SubmittersRCV001949318
NM_001369.3(DNAH5):c.12500-14A>G SNV
Germline		 Chr5:13717534 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA2573138431 rs_2126510171

1 SubmittersRCV001964367
NM_001369.3(DNAH5):c.9606-2A>G SNV
Germline		 Chr5:13769617 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359203387 rs_755550738

1 SubmittersRCV001999302
NM_001369.3(DNAH5):c.11761G>C (p.Gly3921Arg) SNV
Germline		 Chr5:13735131 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359222422 rs_2126606457

1 SubmittersRCV002019866
NM_001369.3(DNAH5):c.12716G>A (p.Trp4239Ter) SNV
Germline		 Chr5:13716680 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359204648 rs_1744320103

1 SubmittersRCV001947450
NM_001369.3(DNAH5):c.3262+1G>A SNV
Germline		 Chr5:13882727 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359191585 rs_757275351

1 SubmittersRCV002045266
NM_001369.3(DNAH5):c.4636C>T (p.Gln1546Ter) SNV
Germline		 Chr5:13862708 Pathogenic Primary ciliary dyskinesia Criteria Provided
Multiple Submitters
No Conflicts
 CA359222357 rs_1344601147

2 SubmittersRCV001893388
NM_001369.3(DNAH5):c.3598+1G>A SNV
Germline		 Chr5:13871563 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359232576 rs_2151920209

2 SubmittersRCV001944682RCV002506913
NM_001369.3(DNAH5):c.7574G>A (p.Gly2525Glu) SNV
Germline		 Chr5:13810094 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA359231541 rs_1465026258

3 SubmittersRCV001954976RCV003452180
NM_001369.3(DNAH5):c.2039C>T (p.Ala680Val) SNV
Germline		 Chr5:13901265 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3204697 rs_374086061

2 SubmittersRCV001903094RCV002284499
NM_001369.3(DNAH5):c.2983+1G>A SNV
Germline		 Chr5:13884988 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359195008 rs_1772196982

1 SubmittersRCV002006959
NM_001369.3(DNAH5):c.12380G>A (p.Arg4127His) SNV
Germline		 Chr5:13719001 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3201656 rs_762555871

2 SubmittersRCV002009213RCV003228046
NM_001369.3(DNAH5):c.9976G>A (p.Val3326Ile) SNV
Germline		 Chr5:13766101 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3202361 rs_149452082

2 SubmittersRCV001922633
NM_001369.3(DNAH5):c.4078A>T (p.Lys1360Ter) SNV
Germline		 Chr5:13866258 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359226505 rs_1769232570

1 SubmittersRCV001994820
NM_001369.3(DNAH5):c.6442C>T (p.Gln2148Ter) SNV
Germline		 Chr5:13829512 Pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Single Submitter
 CA3203408 rs_777303718

2 SubmittersRCV001993242RCV002227290
NM_001369.3(DNAH5):c.10960G>C (p.Glu3654Gln) SNV
Germline		 Chr5:13752202 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3202089 rs_138486840

2 SubmittersRCV001985964
NM_001369.3(DNAH5):c.4053+1G>A SNV
Germline		 Chr5:13867773 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359227881 rs_1060501466

2 SubmittersRCV001983809RCV002246643
NM_001369.3(DNAH5):c.8821-1G>A SNV
Germline		 Chr5:13780960 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359213005 rs_1060501454

1 SubmittersRCV002007584
NM_001369.3(DNAH5):c.5485-2A>T SNV
Germline		 Chr5:13841132 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359210514 rs_2151860622

1 SubmittersRCV002016211
NM_001369.3(DNAH5):c.6739C>T (p.Gln2247Ter) SNV
Germline		 Chr5:13820448 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359194888 rs_2151814430

2 SubmittersRCV001939646RCV002484797
NM_001369.3(DNAH5):c.3457G>T (p.Glu1153Ter) SNV
Germline		 Chr5:13871705 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359233241 rs_779799358

1 SubmittersRCV001942209
NM_001369.3(DNAH5):c.9975C>A (p.Cys3325Ter) SNV
Germline		 Chr5:13766102 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359200133 rs_771715883

2 SubmittersRCV001941875RCV002479577
NM_001369.3(DNAH5):c.10522C>T (p.Gln3508Ter) SNV
Germline		 Chr5:13754236 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359193451 rs_1750671525

1 SubmittersRCV001942014
NM_001369.3(DNAH5):c.6779C>T (p.Thr2260Ile) SNV
Germline		 Chr5:13820408 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3203283 rs_370292438

2 SubmittersRCV001895664
NM_001369.3(DNAH5):c.1342A>T (p.Lys448Ter) SNV
Germline		 Chr5:13913937 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359214550 rs_1227276816

1 SubmittersRCV002002470
NM_001369.3(DNAH5):c.9427A>T (p.Lys3143Ter) SNV
Germline		 Chr5:13770927 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA3202545 rs_765325621

1 SubmittersRCV001939346
NM_001369.3(DNAH5):c.5271G>T (p.Lys1757Asn) SNV
Germline		 Chr5:13844837 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA359213492 rs_1293906490

3 SubmittersRCV002022219RCV002222268RCV005925471
NM_001369.3(DNAH5):c.13746C>A (p.Tyr4582Ter) SNV
Germline		 Chr5:13692113 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359188743 rs_369094478

1 SubmittersRCV001951251
NM_001369.3(DNAH5):c.1627C>T (p.Gln543Ter) SNV
Germline		 Chr5:13911403 Pathogenic Primary ciliary dyskinesia
DNAH5-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359211715 rs_2151977668

2 SubmittersRCV001972366RCV003408013
NM_001369.3(DNAH5):c.4270G>T (p.Glu1424Ter) SNV
Germline		 Chr5:13865753 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359224909 rs_2151910789

1 SubmittersRCV001864061
NM_001369.3(DNAH5):c.2563C>T (p.Leu855Phe) SNV
Germline		 Chr5:13890990 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204555 rs_373146819

2 SubmittersRCV002031800
NM_001369.3(DNAH5):c.12495T>G (p.Tyr4165Ter) SNV
Germline		 Chr5:13718886 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA3201623 rs_373536906

1 SubmittersRCV001949516
NM_001369.3(DNAH5):c.10348G>T (p.Glu3450Ter) SNV
Germline		 Chr5:13758917 Pathogenic Primary ciliary dyskinesia Criteria Provided
Multiple Submitters
No Conflicts
 CA359195641 rs_758739748

2 SubmittersRCV001956199
NM_001369.3(DNAH5):c.5883-2A>C SNV
Germline		 Chr5:13830777 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359203226 rs_1580465796

1 SubmittersRCV001956202
NM_001369.3(DNAH5):c.11528C>T (p.Ser3843Leu) SNV
Germline		 Chr5:13735860 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
not specified		 Criteria Provided
Conflicting Classifications
 CA3201933 rs_78346432

2 SubmittersRCV001906686RCV006453798
NM_001369.3(DNAH5):c.7774C>T (p.Gln2592Ter) SNV
Germline		 Chr5:13807704 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359228830 rs_200922851

1 SubmittersRCV002044869
NM_001369.3(DNAH5):c.3443G>A (p.Trp1148Ter) SNV
Germline		 Chr5:13871719 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA113982205 rs_1007367534

1 SubmittersRCV001949580
NM_001369.3(DNAH5):c.10508G>A (p.Trp3503Ter) SNV
Germline		 Chr5:13754250 Pathogenic Primary ciliary dyskinesia
Respiratory ciliopathies including non-CF bronchiectasis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3202204 rs_777987305

2 SubmittersRCV001958770RCV004782838
NM_001369.3(DNAH5):c.5147G>T (p.Arg1716Leu) SNV
Germline		 Chr5:13844961 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA113954672 rs_74799487

1 SubmittersRCV001958774
NM_001369.3(DNAH5):c.4237C>T (p.Gln1413Ter) SNV
Germline		 Chr5:13865786 Pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3204042 rs_752734772

3 SubmittersRCV001975103RCV005042604
NM_001369.3(DNAH5):c.10051C>T (p.Gln3351Ter) SNV
Germline		 Chr5:13766026 Pathogenic Primary ciliary dyskinesia Criteria Provided
Multiple Submitters
No Conflicts
 CA359199723 rs_770720791

2 SubmittersRCV001909665
NM_001369.3(DNAH5):c.232C>T (p.Arg78Ter) SNV
Germline		 Chr5:13928139 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359227174 rs_1314223921

1 SubmittersRCV001863336
NM_001369.3(DNAH5):c.6962G>A (p.Trp2321Ter) SNV
Germline		 Chr5:13817574 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359192547 rs_2151807051

1 SubmittersRCV001863450
NM_001369.3(DNAH5):c.9682G>T (p.Glu3228Ter) SNV
Germline		 Chr5:13769539 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359202966 rs_2126779627

1 SubmittersRCV001918612
NM_001369.3(DNAH5):c.10872+1G>A SNV
Germline		 Chr5:13753232 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359190705 rs_2126700213

1 SubmittersRCV002003960
NM_001369.3(DNAH5):c.3262+2T>G SNV
Germline		 Chr5:13882726 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359191580 rs_2151938077

1 SubmittersRCV002024945
NM_001369.3(DNAH5):c.12033+1G>A SNV
Germline		 Chr5:13727506 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359217563 rs_2126563913

1 SubmittersRCV002024948
NM_001369.3(DNAH5):c.8804T>C (p.Met2935Thr) SNV
Germline		 Chr5:13786195 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3202733 rs_750633804

2 SubmittersRCV002192299
NM_001369.3(DNAH5):c.3745G>A (p.Asp1249Asn) SNV
Germline		 Chr5:13870856 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3204187 rs_140471516

2 SubmittersRCV002220697RCV005032154
NM_001369.3(DNAH5):c.13837G>A (p.Val4613Met) SNV
Germline		 Chr5:13692022 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3201231 rs_147583407

2 SubmittersRCV002203518
NM_001369.3(DNAH5):c.8224+18G>A SNV
Germline		 Chr5:13793497 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3202869 rs_183622722

2 SubmittersRCV002183555
NM_001369.3(DNAH5):c.2170A>G (p.Met724Val) SNV
Germline		 Chr5:13900295 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204648 rs_202195680

2 SubmittersRCV002202282
NM_001369.3(DNAH5):c.8568T>G (p.Gly2856=) SNV
Germline		 Chr5:13788795 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA443262080 rs_1239991919

2 SubmittersRCV002169949
NM_001369.3(DNAH5):c.4821G>T (p.Gln1607His) SNV
Germline		 Chr5:13859581 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3203864 rs_773599958

3 SubmittersRCV002211540RCV004711764
NM_001369.3(DNAH5):c.207T>A (p.Asp69Glu) SNV
Germline		 Chr5:13928164 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3205246 rs_777266031

2 SubmittersRCV002158088
NM_001369.3(DNAH5):c.10324C>T (p.Gln3442Ter) SNV
Germline		 Chr5:13758941 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA359195811 rs_2126728109

1 SubmittersRCV002222307
NM_001369.3(DNAH5):c.1304C>T (p.Ala435Val) SNV
Germline		 Chr5:13914536 Conflicting classifications of pathogenicity Condition: not provided
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3204891 rs_766164602

3 SubmittersRCV002288092RCV002382506
NM_001369.3(DNAH5):c.8624T>A (p.Leu2875Ter) SNV
Unknown		 Chr5:13788739 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359217015 rs_2546723652

1 SubmittersRCV002306504
NM_001369.3(DNAH5):c.8044C>T (p.Gln2682Ter) SNV
Germline		 Chr5:13793695 Pathogenic/Likely pathogenic Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359221560 rs_1199634064

3 SubmittersRCV002306541RCV003120889
NM_001369.3(DNAH5):c.3082G>T (p.Glu1028Ter) SNV
Unknown		 Chr5:13882996 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359193538 rs_2547031222

1 SubmittersRCV002306582
NM_001369.3(DNAH5):c.10201G>T (p.Gly3401Ter) SNV
Unknown		 Chr5:13762802 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359198255 rs_2546640737

1 SubmittersRCV002306586
NM_001369.3(DNAH5):c.11380G>T (p.Glu3794Ter) SNV
Unknown		 Chr5:13737327 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359226457 rs_936673131

1 SubmittersRCV002306740
NM_001369.3(DNAH5):c.9781A>T (p.Lys3261Ter) SNV
Unknown		 Chr5:13769076 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359202067 rs_146215039

1 SubmittersRCV002306808
NM_001369.3(DNAH5):c.4547T>A (p.Leu1516Ter) SNV
Unknown		 Chr5:13864446 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359223831 rs_2546978412

1 SubmittersRCV002309601
NM_001369.3(DNAH5):c.1291A>T (p.Lys431Ter) SNV
Unknown		 Chr5:13914549 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359214895 rs_1446257052

1 SubmittersRCV002309602
NM_001369.3(DNAH5):c.8058T>A (p.Tyr2686Ter) SNV
Unknown		 Chr5:13793681 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359221498 rs_1757372234

1 SubmittersRCV002309704
NM_001369.3(DNAH5):c.6574A>T (p.Lys2192Ter) SNV
Unknown		 Chr5:13824204 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359197067 rs_2546857495

1 SubmittersRCV002309859
NM_001369.3(DNAH5):c.2278C>T (p.Gln760Ter) SNV
Unknown		 Chr5:13894803 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359201353 rs_2547069104

1 SubmittersRCV002309896
NM_001369.3(DNAH5):c.6083G>A (p.Trp2028Ter) SNV
Germline		 Chr5:13830192 Pathogenic/Likely pathogenic Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359201765 rs_2546879148

3 SubmittersRCV002307861RCV005058262
NM_001369.3(DNAH5):c.2087T>A (p.Leu696Ter) SNV
Unknown		 Chr5:13900378 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA113943267 rs_1002831578

1 SubmittersRCV002307906
NM_001369.3(DNAH5):c.3152G>A (p.Trp1051Ter) SNV
Unknown		 Chr5:13882926 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359192736 rs_2547030805

1 SubmittersRCV002307957
NM_001369.3(DNAH5):c.8370T>A (p.Tyr2790Ter) SNV
Unknown		 Chr5:13792072 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359219125 rs_2546736793

1 SubmittersRCV002307964
NM_001369.3(DNAH5):c.8993T>A (p.Leu2998Ter) SNV
Unknown		 Chr5:13777314 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359211187 rs_2546682451

1 SubmittersRCV002308024
NM_001369.3(DNAH5):c.10289T>A (p.Leu3430Ter) SNV
Unknown		 Chr5:13758976 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359196001 rs_2546631246

1 SubmittersRCV002308158
NM_001369.3(DNAH5):c.5593G>T (p.Glu1865Ter) SNV
Unknown		 Chr5:13841022 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359209586 rs_2546908288

1 SubmittersRCV002308196
NM_001369.3(DNAH5):c.4874G>A (p.Trp1625Ter) SNV
Unknown		 Chr5:13859528 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359219792 rs_2546965500

1 SubmittersRCV002308214
NM_001369.3(DNAH5):c.8691T>A (p.Tyr2897Ter) SNV
Unknown		 Chr5:13786308 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359215541 rs_2546713542

1 SubmittersRCV002308218
NM_001369.3(DNAH5):c.7677T>A (p.Tyr2559Ter) SNV
Unknown		 Chr5:13809119 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359230798 rs_2546800840

1 SubmittersRCV002308277
NM_001369.3(DNAH5):c.2780C>A (p.Ser927Ter) SNV
Unknown		 Chr5:13885192 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359195715 rs_2547038533

1 SubmittersRCV002308374
NM_001369.3(DNAH5):c.9292A>T (p.Arg3098Ter) SNV
Unknown		 Chr5:13776520 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359208415 rs_2546678822

1 SubmittersRCV002309027
NM_001369.3(DNAH5):c.11938G>T (p.Glu3980Ter) SNV
Unknown		 Chr5:13727602 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359218285 rs_1221618846

1 SubmittersRCV002309078
NM_001369.3(DNAH5):c.9139G>T (p.Glu3047Ter) SNV
Unknown		 Chr5:13776673 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359209662 rs_2546679549

1 SubmittersRCV002309120
NM_001369.3(DNAH5):c.8321G>A (p.Trp2774Ter) SNV
Unknown		 Chr5:13792121 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359219347 rs_2546737159

1 SubmittersRCV002309129
NM_001369.3(DNAH5):c.8161A>T (p.Lys2721Ter) SNV
Unknown		 Chr5:13793578 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359221207 rs_2546743083

1 SubmittersRCV002309166
NM_001369.3(DNAH5):c.8068A>T (p.Lys2690Ter) SNV
Unknown		 Chr5:13793671 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359221471 rs_2546743814

1 SubmittersRCV002309215
NM_001369.3(DNAH5):c.9555T>A (p.Tyr3185Ter) SNV
Unknown		 Chr5:13770799 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359204347 rs_2546662839

1 SubmittersRCV002309316
NM_001369.3(DNAH5):c.141T>A (p.Cys47Ter) SNV
Unknown		 Chr5:13931161 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359230001 rs_2547182728

1 SubmittersRCV002309359
NM_001369.3(DNAH5):c.11668G>T (p.Glu3890Ter) SNV
Unknown		 Chr5:13735224 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359223211 rs_2546561065

1 SubmittersRCV002309520
NM_001369.3(DNAH5):c.2947A>T (p.Lys983Ter) SNV
Unknown		 Chr5:13885025 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359195085 rs_2547037313

1 SubmittersRCV002309534
NM_001369.3(DNAH5):c.8743C>T (p.Gln2915Ter) SNV
Unknown		 Chr5:13786256 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359215263 rs_2546713117

1 SubmittersRCV002306825
NM_001369.3(DNAH5):c.12298C>T (p.Gln4100Ter) SNV
Unknown		 Chr5:13719083 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359211644 rs_2546519013

1 SubmittersRCV002306877
NM_001369.3(DNAH5):c.3880G>T (p.Glu1294Ter) SNV
Unknown		 Chr5:13867947 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359229664 rs_2546988568

1 SubmittersRCV002306896
NM_001369.3(DNAH5):c.12478G>T (p.Gly4160Ter) SNV
Unknown		 Chr5:13718903 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359208931 rs_2546517357

1 SubmittersRCV002306921
NM_001369.3(DNAH5):c.5458G>T (p.Glu1820Ter) SNV
Unknown		 Chr5:13841718 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359210858 rs_2546910913

1 SubmittersRCV002306947
NM_001369.3(DNAH5):c.11203G>T (p.Glu3735Ter) SNV
Unknown		 Chr5:13751086 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359188820 rs_2546608024

1 SubmittersRCV002307160
NM_001369.3(DNAH5):c.4018C>T (p.Gln1340Ter) SNV
Unknown		 Chr5:13867809 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359228348 rs_2546988009

1 SubmittersRCV002307184
NM_001369.3(DNAH5):c.11857A>T (p.Arg3953Ter) SNV
Unknown		 Chr5:13729465 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359219773 rs_2546546992

1 SubmittersRCV002307251
NM_001369.3(DNAH5):c.9620T>A (p.Leu3207Ter) SNV
Unknown		 Chr5:13769601 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359203307 rs_2546659032

1 SubmittersRCV002307277
NM_001369.3(DNAH5):c.4304C>A (p.Ser1435Ter) SNV
Unknown		 Chr5:13865719 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359224673 rs_2546982546

1 SubmittersRCV002310119
NM_001369.3(DNAH5):c.8659G>T (p.Glu2887Ter) SNV
Unknown		 Chr5:13786340 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359215720 rs_2546713783

1 SubmittersRCV002310132
NM_001369.3(DNAH5):c.10771G>T (p.Gly3591Ter) SNV
Unknown		 Chr5:13753334 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359191321 rs_2546614878

1 SubmittersRCV002310206
NM_001369.3(DNAH5):c.2188G>T (p.Glu730Ter) SNV
Unknown		 Chr5:13900277 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359203466 rs_2547087393

1 SubmittersRCV002310231
NM_001369.3(DNAH5):c.4896G>A (p.Trp1632Ter) SNV
Germline		 Chr5:13859506 Pathogenic/Likely pathogenic Primary ciliary dyskinesia 3
Respiratory ciliopathies including non-CF bronchiectasis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359219638 rs_1056752324

2 SubmittersRCV002310256RCV004782919
NM_001369.3(DNAH5):c.8001G>A (p.Trp2667Ter) SNV
Unknown		 Chr5:13793945 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359221784 rs_2546745553

1 SubmittersRCV002310350
NM_001369.3(DNAH5):c.7240A>T (p.Lys2414Ter) SNV
Unknown		 Chr5:13811814 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359189572 rs_2546815071

1 SubmittersRCV002310381
NM_001369.3(DNAH5):c.9766A>T (p.Lys3256Ter) SNV
Unknown		 Chr5:13769091 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359202193 rs_776993217

1 SubmittersRCV002310386
NM_001369.3(DNAH5):c.3799C>T (p.Gln1267Ter) SNV
Unknown		 Chr5:13870802 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359231400 rs_2546995623

1 SubmittersRCV002310404
NM_001369.3(DNAH5):c.4648C>T (p.Gln1550Ter) SNV
Germline		 Chr5:13862696 Pathogenic/Likely pathogenic Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359222250 rs_2546974004

2 SubmittersRCV002310485RCV003534856
NM_001369.3(DNAH5):c.2382G>A (p.Trp794Ter) SNV
Unknown		 Chr5:13894699 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359200699 rs_2151953467

1 SubmittersRCV002310494
NM_001369.3(DNAH5):c.1411G>T (p.Gly471Ter) SNV
Unknown		 Chr5:13913868 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359214112 rs_2547127397

1 SubmittersRCV002308434
NM_001369.3(DNAH5):c.3210G>C (p.Gln1070His) SNV
Germline		 Chr5:13882780 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204350 rs_372974399

2 SubmittersRCV002324595
NM_001369.3(DNAH5):c.40G>T (p.Val14Phe) SNV
Germline		 Chr5:13944399 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA359189848 rs_1015850611

2 SubmittersRCV002323334
NM_001369.3(DNAH5):c.4257C>A (p.Tyr1419Ter) SNV
Germline		 Chr5:13865766 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359224980 rs_1769153825

1 SubmittersRCV002329907
NM_001369.3(DNAH5):c.3248A>T (p.Glu1083Val) SNV
Germline		 Chr5:13882742 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3204348 rs_370697884

4 SubmittersRCV002324844RCV003491087RCV004809814
NM_001369.3(DNAH5):c.358G>A (p.Asp120Asn) SNV
Germline		 Chr5:13923360 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3205205 rs_779957324

2 SubmittersRCV002455129
NM_001369.3(DNAH5):c.6001G>A (p.Val2001Ile) SNV
Germline		 Chr5:13830657 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3203512 rs_769656114

3 SubmittersRCV002358016RCV004820912
NM_001369.3(DNAH5):c.5389C>T (p.Gln1797Ter) SNV
Germline		 Chr5:13841787 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359211599 rs_2546911328

1 SubmittersRCV002347164
NM_001369.3(DNAH5):c.5902C>T (p.Gln1968Ter) SNV
Germline		 Chr5:13830756 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA3203536 rs_775125740

1 SubmittersRCV002355719
NM_001369.3(DNAH5):c.6265G>A (p.Gly2089Arg) SNV
Germline		 Chr5:13829689 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3203439 rs_767274970

2 SubmittersRCV002368629
NM_001369.3(DNAH5):c.506C>A (p.Ser169Ter) SNV
Germline		 Chr5:13922261 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359223010 rs_749078502

1 SubmittersRCV002335828
NM_001369.3(DNAH5):c.5282G>A (p.Arg1761Gln) SNV
Germline		 Chr5:13841894 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3203709 rs_774020682

2 SubmittersRCV002344465
NM_001369.3(DNAH5):c.532G>A (p.Ala178Thr) SNV
Germline		 Chr5:13922235 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3205159 rs_781356156

2 SubmittersRCV002346834
NM_001369.3(DNAH5):c.5583G>T (p.Gln1861His) SNV
Germline		 Chr5:13841032 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3203633 rs_756945139

2 SubmittersRCV002344766
NM_001369.3(DNAH5):c.4960C>T (p.Arg1654Trp) SNV
Germline		 Chr5:13850806 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3203824 rs_139364454

3 SubmittersRCV002351337RCV006451238
NM_001369.3(DNAH5):c.496C>T (p.Arg166Cys) SNV
Germline		 Chr5:13922271 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3205166 rs_372832680

2 SubmittersRCV002342831
NM_001369.3(DNAH5):c.12223A>G (p.Met4075Val) SNV
Germline		 Chr5:13721056 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA359213464 rs_1423192314

3 SubmittersRCV002361574RCV003403800
NM_001369.3(DNAH5):c.12279C>T (p.Asn4093=) SNV
Germline		 Chr5:13721000 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3201698 rs_572468560

2 SubmittersRCV002364570RCV003615893
NM_001369.3(DNAH5):c.6898C>T (p.Gln2300Ter) SNV
Germline		 Chr5:13817638 Pathogenic Primary ciliary dyskinesia Criteria Provided
Multiple Submitters
No Conflicts
 CA359193188 rs_1157521172

2 SubmittersRCV002362292
NM_001369.3(DNAH5):c.7571C>T (p.Pro2524Leu) SNV
Germline		 Chr5:13810097 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA113979098 rs_369824303

2 SubmittersRCV002394083
NM_001369.3(DNAH5):c.7610-2A>G SNV
Germline		 Chr5:13809188 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359231102 rs_2546801557

1 SubmittersRCV002396213
NM_001369.3(DNAH5):c.793G>A (p.Glu265Lys) SNV
Germline		 Chr5:13920485 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
DNAH5-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3205100 rs_140576123

4 SubmittersRCV002416823RCV003408252RCV004774676
NM_001369.3(DNAH5):c.8311C>T (p.Arg2771Cys) SNV
Germline		 Chr5:13792131 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3202846 rs_769557047

4 SubmittersRCV002430392RCV004554886RCV004823034
NM_001369.3(DNAH5):c.8395C>T (p.Arg2799Trp) SNV
Germline		 Chr5:13792047 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3202834 rs_542159073

3 SubmittersRCV002434859RCV003164540
NM_001369.3(DNAH5):c.8396G>C (p.Arg2799Pro) SNV
Germline		 Chr5:13792046 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359219018 rs_1182948401

1 SubmittersRCV002434860
NM_001369.3(DNAH5):c.12685G>A (p.Asp4229Asn) SNV
Germline		 Chr5:13717335 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3201570 rs_746241201

2 SubmittersRCV002373544
NM_001369.3(DNAH5):c.8751T>G (p.Tyr2917Ter) SNV
Germline		 Chr5:13786248 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359215223 rs_1755980161

1 SubmittersRCV002373560
NM_001369.3(DNAH5):c.8803A>G (p.Met2935Val) SNV
Germline		 Chr5:13786196 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA113954219 rs_929329118

2 SubmittersRCV002373720
NM_001369.3(DNAH5):c.1252G>A (p.Ala418Thr) SNV
Germline		 Chr5:13914588 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3204901 rs_140388814

3 SubmittersRCV002412360RCV003434477
NM_001369.3(DNAH5):c.9125G>T (p.Arg3042Leu) SNV
Germline		 Chr5:13776687 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3202604 rs_200839716

2 SubmittersRCV002378718
NM_001369.3(DNAH5):c.9679A>T (p.Lys3227Ter) SNV
Germline		 Chr5:13769542 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359202985 rs_2546658786

1 SubmittersRCV002386982
NM_001369.3(DNAH5):c.7459G>A (p.Ala2487Thr) SNV
Germline		 Chr5:13810209 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3203087 rs_774699675

2 SubmittersRCV002385140
NM_001369.3(DNAH5):c.8174C>G (p.Ser2725Cys) SNV
Germline		 Chr5:13793565 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3202882 rs_764288193

2 SubmittersRCV002427788
NM_001369.3(DNAH5):c.8537C>T (p.Ala2846Val) SNV
Germline		 Chr5:13788826 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3202792 rs_200457834

2 SubmittersRCV002414442
NM_001369.3(DNAH5):c.9481G>T (p.Val3161Phe) SNV
Germline		 Chr5:13770873 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3202537 rs_773045896

2 SubmittersRCV002374069
NM_001369.3(DNAH5):c.9517G>A (p.Val3173Met) SNV
Germline		 Chr5:13770837 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3202528 rs_552782157

2 SubmittersRCV002374196
NM_001369.3(DNAH5):c.7309C>T (p.Arg2437Cys) SNV
Germline		 Chr5:13811745 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3203124 rs_201469471

2 SubmittersRCV002380028
NM_001369.3(DNAH5):c.7631C>T (p.Thr2544Met) SNV
Germline		 Chr5:13809165 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3203037 rs_766316984

3 SubmittersRCV002396324RCV002466755
NM_001369.3(DNAH5):c.8010+1G>A SNV
Germline		 Chr5:13793935 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359221746 rs_2546745461

1 SubmittersRCV002419220
NM_001369.3(DNAH5):c.9706G>A (p.Asp3236Asn) SNV
Germline		 Chr5:13769515 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3202466 rs_374206128

2 SubmittersRCV002376678
NM_001369.3(DNAH5):c.13485G>A (p.Met4495Ile) SNV
Germline		 Chr5:13701290 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA359192360 rs_1424487626

2 SubmittersRCV002387866
NM_001369.3(DNAH5):c.986A>G (p.Glu329Gly) SNV
Germline		 Chr5:13917246 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3204994 rs_483353127

3 SubmittersRCV002387349RCV003883818
NM_001369.3(DNAH5):c.13332G>A (p.Trp4444Ter) SNV
Germline		 Chr5:13708129 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359196285 rs_2546486911

1 SubmittersRCV002387539
NM_001369.3(DNAH5):c.13385T>C (p.Ile4462Thr) SNV
Germline		 Chr5:13701390 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3201377 rs_750565633

2 SubmittersRCV002387625
NM_001369.3(DNAH5):c.10405A>G (p.Met3469Val) SNV
Germline		 Chr5:13758860 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3202250 rs_755793521

2 SubmittersRCV002389801
NM_001369.3(DNAH5):c.104C>T (p.Ala35Val) SNV
Germline		 Chr5:13931198 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3205282 rs_371414060

2 SubmittersRCV002394888
NM_001369.3(DNAH5):c.10552G>C (p.Val3518Leu) SNV
Germline		 Chr5:13754206 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3202199 rs_558861943

2 SubmittersRCV002406251
NM_001369.3(DNAH5):c.12975G>C (p.Gln4325His) SNV
Germline		 Chr5:13714555 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3201483 rs_780181944

2 SubmittersRCV002380674
NM_001369.3(DNAH5):c.1534C>T (p.Gln512Ter) SNV
Germline		 Chr5:13913745 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA113957613 rs_764935565

1 SubmittersRCV002392578
NM_001369.3(DNAH5):c.1975A>G (p.Ile659Val) SNV
Germline		 Chr5:13901329 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3204706 rs_763360696

3 SubmittersRCV002423563RCV004725275
NM_001369.3(DNAH5):c.2480G>A (p.Arg827His) SNV
Germline		 Chr5:13891073 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3204571 rs_141969815

3 SubmittersRCV002430784RCV005415643
NM_001369.3(DNAH5):c.2599C>T (p.Gln867Ter) SNV
Germline		 Chr5:13886108 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Respiratory ciliopathies including non-CF bronchiectasis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359196843 rs_1484394072

4 SubmittersRCV002426194RCV005032273RCV005254095
NM_001369.3(DNAH5):c.2722A>C (p.Asn908His) SNV
Germline		 Chr5:13885985 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204515 rs_139235944

2 SubmittersRCV002431305
NM_001369.3(DNAH5):c.11128C>T (p.Arg3710Cys) SNV
Germline		 Chr5:13751161 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3202048 rs_750661309

2 SubmittersRCV002437590
NM_001369.3(DNAH5):c.11456-7C>T SNV
Germline		 Chr5:13735939 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA915940842 rs_2546564339

2 SubmittersRCV002466846RCV003775491
NM_001369.3(DNAH5):c.10835T>A (p.Ile3612Asn) SNV
Germline		 Chr5:13753270 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3202131 rs_765033981

2 SubmittersRCV003037194
NM_001369.3(DNAH5):c.464C>T (p.Ala155Val) SNV
Germline		 Chr5:13922303 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3205171 rs_148837179

3 SubmittersRCV003076653RCV003615921
NM_001369.3(DNAH5):c.2914A>C (p.Lys972Gln) SNV
Germline		 Chr5:13885058 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204456 rs_776671484

2 SubmittersRCV003058442
NM_001369.3(DNAH5):c.47G>A (p.Arg16Gln) SNV
Germline		 Chr5:13944392 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3205306 rs_778890170

2 SubmittersRCV003066881
NM_001369.3(DNAH5):c.7601C>T (p.Ala2534Val) SNV
Germline		 Chr5:13810067 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3203069 rs_773382166

2 SubmittersRCV003081301
NM_001369.3(DNAH5):c.9685A>G (p.Lys3229Glu) SNV
Germline		 Chr5:13769536 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3202469 rs_561380021

4 SubmittersRCV003063689RCV003227082RCV004577027
NM_001369.3(DNAH5):c.886A>G (p.Lys296Glu) SNV
Germline		 Chr5:13919265 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3205044 rs_545061430

2 SubmittersRCV003081348
NM_001369.3(DNAH5):c.12037C>T (p.Arg4013Cys) SNV
Germline		 Chr5:13721242 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3201748 rs_148349630

2 SubmittersRCV003073666RCV004775279
NM_001369.3(DNAH5):c.1981C>T (p.Arg661Cys) SNV
Germline		 Chr5:13901323 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204703 rs_763771549

2 SubmittersRCV003068911
NM_001369.3(DNAH5):c.2577+1G>A SNV
Germline		 Chr5:13890975 Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359198834 rs_867422125

2 SubmittersRCV003077641RCV005034646
NM_001369.3(DNAH5):c.769A>G (p.Met257Val) SNV
Germline		 Chr5:13920509 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3205104 rs_759576627

2 SubmittersRCV003079897
NM_001369.3(DNAH5):c.13729C>T (p.Arg4577Ter) SNV
Germline		 Chr5:13692130 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359188775 rs_1365275304

1 SubmittersRCV003086122
NM_001369.3(DNAH5):c.11785G>A (p.Ala3929Thr) SNV
Germline		 Chr5:13729537 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA359220348 rs_1167911121

2 SubmittersRCV003092343
NM_001369.3(DNAH5):c.3487A>C (p.Ser1163Arg) SNV
Germline		 Chr5:13871675 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204248 rs_774760728

2 SubmittersRCV003072908
NM_001369.3(DNAH5):c.2432-1G>C SNV
Germline		 Chr5:13891122 Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359199919 rs_2547057734

2 SubmittersRCV003070528RCV005636724
NM_001369.3(DNAH5):c.4664G>A (p.Trp1555Ter) SNV
Germline		 Chr5:13862680 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA3203917 rs_752620318

1 SubmittersRCV003079059
NM_001369.3(DNAH5):c.8782A>G (p.Met2928Val) SNV
Germline		 Chr5:13786217 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA113954266 rs_946953944

2 SubmittersRCV003072491
NM_001369.3(DNAH5):c.646A>G (p.Ser216Gly) SNV
Germline		 Chr5:13922121 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3205136 rs_757602565

2 SubmittersRCV003082199
NM_001369.3(DNAH5):c.7273C>T (p.Arg2425Cys) SNV
Germline		 Chr5:13811781 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3203136 rs_376707969

2 SubmittersRCV003095347
NM_001369.3(DNAH5):c.5710-6T>A SNV
Germline		 Chr5:13839534 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA2501982442 rs_2546903479

1 SubmittersRCV002581874
NM_001369.3(DNAH5):c.2035A>G (p.Arg679Gly) SNV
Germline		 Chr5:13901269 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204698 rs_774319188

2 SubmittersRCV002581606
NM_001369.3(DNAH5):c.8744A>G (p.Gln2915Arg) SNV
Germline		 Chr5:13786255 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA113954454 rs_1015446414

2 SubmittersRCV002598916
NM_001369.3(DNAH5):c.10138G>T (p.Glu3380Ter) SNV
Germline		 Chr5:13762865 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359198813 rs_1751975175

1 SubmittersRCV003073377
NM_001369.3(DNAH5):c.12644C>T (p.Ala4215Val) SNV
Germline		 Chr5:13717376 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
DNAH5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3201575 rs_200969063

3 SubmittersRCV003081983RCV003420330
NM_001369.3(DNAH5):c.2137C>T (p.Gln713Ter) SNV
Germline		 Chr5:13900328 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359203646 rs_2547087810

2 SubmittersRCV003084427RCV005034683
NM_001369.3(DNAH5):c.1669G>A (p.Val557Ile) SNV
Germline		 Chr5:13902114 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA359208467 rs_1241187163

2 SubmittersRCV003083119RCV004765673
NM_001369.3(DNAH5):c.3304C>T (p.Gln1102Ter) SNV
Germline		 Chr5:13876776 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA3204315 rs_774143246

1 SubmittersRCV002599958
NM_001369.3(DNAH5):c.4324A>C (p.Ile1442Leu) SNV
Germline		 Chr5:13865699 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204018 rs_371141184

2 SubmittersRCV002623557
NM_001369.3(DNAH5):c.1081A>C (p.Ser361Arg) SNV
Germline		 Chr5:13917151 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204977 rs_756837998

2 SubmittersRCV002599453
NM_001369.3(DNAH5):c.2022G>C (p.Glu674Asp) SNV
Germline		 Chr5:13901282 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204699 rs_202042110

2 SubmittersRCV002619092
NM_001369.3(DNAH5):c.7018C>A (p.Pro2340Thr) SNV
Germline		 Chr5:13814817 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3203194 rs_202082284

2 SubmittersRCV002620449RCV005356297
NM_001369.3(DNAH5):c.11129G>A (p.Arg3710His) SNV
Germline		 Chr5:13751160 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3202046 rs_954286214

2 SubmittersRCV002585592
NM_001369.3(DNAH5):c.4773G>T (p.Leu1591Phe) SNV
Germline		 Chr5:13862571 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA113973049 rs_970151715

2 SubmittersRCV002591754
NM_001369.3(DNAH5):c.3438C>G (p.His1146Gln) SNV
Germline		 Chr5:13871724 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204267 rs_779321133

2 SubmittersRCV002615094
NM_001369.3(DNAH5):c.1028A>G (p.Asp343Gly) SNV
Germline		 Chr5:13917204 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204984 rs_778204627

2 SubmittersRCV002647397
NM_001369.3(DNAH5):c.12046A>C (p.Ile4016Leu) SNV
Germline		 Chr5:13721233 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA113920855 rs_144287016

2 SubmittersRCV002640326
NM_001369.3(DNAH5):c.12206A>T (p.Glu4069Val) SNV
Germline		 Chr5:13721073 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3201713 rs_770252526

2 SubmittersRCV002629626
NM_001369.3(DNAH5):c.4309G>A (p.Val1437Met) SNV
Germline		 Chr5:13865714 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA359224652 rs_1390327836

2 SubmittersRCV002624201
NM_001369.3(DNAH5):c.6527C>T (p.Thr2176Met) SNV
Germline		 Chr5:13824251 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3203372 rs_776292592

3 SubmittersRCV002612438RCV005628965
NM_001369.3(DNAH5):c.3446A>G (p.Gln1149Arg) SNV
Germline		 Chr5:13871716 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204264 rs_780846691

2 SubmittersRCV002650873
NM_001369.3(DNAH5):c.9878A>C (p.Glu3293Ala) SNV
Germline		 Chr5:13768979 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3202412 rs_542064804

3 SubmittersRCV002637783RCV005623504
NM_001369.3(DNAH5):c.5539A>G (p.Arg1847Gly) SNV
Germline		 Chr5:13841076 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3203643 rs_774073166

2 SubmittersRCV002634111
NM_001369.3(DNAH5):c.10240G>T (p.Ala3414Ser) SNV
Germline		 Chr5:13762763 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3202303 rs_138951581

2 SubmittersRCV002647886
NM_001369.3(DNAH5):c.1586G>A (p.Arg529Gln) SNV
Germline		 Chr5:13911444 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3204807 rs_761289479

4 SubmittersRCV002620609RCV003143516RCV004823115
NM_001369.3(DNAH5):c.13222C>G (p.Arg4408Gly) SNV
Germline		 Chr5:13708239 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3201420 rs_150046963

2 SubmittersRCV002629443
NM_001369.3(DNAH5):c.11739A>C (p.Glu3913Asp) SNV
Germline		 Chr5:13735153 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3201866 rs_748787177

2 SubmittersRCV002647744RCV004812473
NM_001369.3(DNAH5):c.7407+4A>C SNV
Germline		 Chr5:13811643 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA557876747 rs_1313931851

2 SubmittersRCV002512446RCV003615919
NM_001369.3(DNAH5):c.9151G>A (p.Asp3051Asn) SNV
Germline		 Chr5:13776661 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA359209528 rs_1171709721

2 SubmittersRCV003111682
NM_001369.3(DNAH5):c.9022G>A (p.Gly3008Arg) SNV
Germline		 Chr5:13777285 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA359210931 rs_1348742926

2 SubmittersRCV003117129
NM_001369.3(DNAH5):c.9962G>A (p.Arg3321Gln) SNV
Germline		 Chr5:13766115 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3202367 rs_750927507

2 SubmittersRCV002570854
NM_001369.3(DNAH5):c.12409C>T (p.Gln4137Ter) SNV
Germline		 Chr5:13718972 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359210248 rs_192894455

1 SubmittersRCV002593310
NM_001369.3(DNAH5):c.9961C>T (p.Arg3321Trp) SNV
Germline		 Chr5:13766116 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3202368 rs_763063590

2 SubmittersRCV002601670
NM_001369.3(DNAH5):c.11617G>A (p.Glu3873Lys) SNV
Germline		 Chr5:13735275 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3201890 rs_770233429

2 SubmittersRCV002613435
NM_001369.3(DNAH5):c.13409C>T (p.Ser4470Leu) SNV
Germline		 Chr5:13701366 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3201374 rs_146051262

2 SubmittersRCV002589569
NM_001369.3(DNAH5):c.12279+1G>A SNV
Germline		 Chr5:13720999 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA3201697 rs_765520656

1 SubmittersRCV002594447
NM_001369.3(DNAH5):c.13223G>A (p.Arg4408His) SNV
Germline		 Chr5:13708238 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3201418 rs_202034094

2 SubmittersRCV002590951
NM_001369.3(DNAH5):c.9106-1G>A SNV
Germline		 Chr5:13776707 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA3202612 rs_757846582

2 SubmittersRCV002618653
NM_001369.3(DNAH5):c.6061+1G>A SNV
Germline		 Chr5:13830596 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA3203496 rs_772658660

1 SubmittersRCV002635316
NM_001369.3(DNAH5):c.12705+1G>T SNV
Germline		 Chr5:13717314 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA3201563 rs_779993876

1 SubmittersRCV002614723
NM_001369.3(DNAH5):c.8261G>A (p.Gly2754Asp) SNV
Germline		 Chr5:13792181 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3202854 rs_546101625

2 SubmittersRCV002653001
NM_001369.3(DNAH5):c.13465C>T (p.Gln4489Ter) SNV
Germline		 Chr5:13701310 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359192420 rs_2546469244

1 SubmittersRCV002662473
NM_001369.3(DNAH5):c.9489T>G (p.Tyr3163Ter) SNV
Germline		 Chr5:13770865 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359204700 rs_185605880

1 SubmittersRCV002662497
NM_001369.3(DNAH5):c.2456G>C (p.Arg819Thr) SNV
Germline		 Chr5:13891097 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204581 rs_200486203

2 SubmittersRCV002643548
NM_001369.3(DNAH5):c.7596T>A (p.Tyr2532Ter) SNV
Germline		 Chr5:13810072 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359231351 rs_920106420

1 SubmittersRCV002715233
NM_001369.3(DNAH5):c.11913T>G (p.Ile3971Met) SNV
Germline		 Chr5:13727627 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3201795 rs_147531607

2 SubmittersRCV002725516
NM_001369.3(DNAH5):c.6025C>T (p.Gln2009Ter) SNV
Germline		 Chr5:13830633 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359202312 rs_1763540075

1 SubmittersRCV002716328
NM_001369.3(DNAH5):c.12212G>A (p.Arg4071His) SNV
Germline		 Chr5:13721067 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3201709 rs_745403938

2 SubmittersRCV002735934RCV004593056
NM_001369.3(DNAH5):c.5246T>C (p.Ile1749Thr) SNV
Germline		 Chr5:13844862 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA359213795 rs_770108485

2 SubmittersRCV002731590
NM_001369.3(DNAH5):c.13491+1G>A SNV
Germline		 Chr5:13701283 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359192347 rs_2546469118

1 SubmittersRCV002745513
NM_001369.3(DNAH5):c.3344A>G (p.Glu1115Gly) SNV
Germline		 Chr5:13876736 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA113926943 rs_1004254149

2 SubmittersRCV002760246
NM_001369.3(DNAH5):c.7753-1G>T SNV
Germline		 Chr5:13807726 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359229126 rs_2546794222

2 SubmittersRCV002761704RCV005044971
NM_001369.3(DNAH5):c.6841+1G>A SNV
Germline		 Chr5:13820345 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359194648 rs_2151814082

1 SubmittersRCV002800274
NM_001369.3(DNAH5):c.7168G>A (p.Val2390Ile) SNV
Germline		 Chr5:13814667 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3203165 rs_751936457

2 SubmittersRCV002756739RCV003234207
NM_001369.3(DNAH5):c.2090T>A (p.Leu697Ter) SNV
Germline		 Chr5:13900375 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359203811 rs_1554096143

1 SubmittersRCV002800242
NM_001369.3(DNAH5):c.11038G>T (p.Gly3680Cys) SNV
Germline		 Chr5:13751251 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3202062 rs_777140914

3 SubmittersRCV002785829RCV005233016
NM_001369.3(DNAH5):c.925G>A (p.Val309Met) SNV
Germline		 Chr5:13919226 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3205036 rs_776025009

2 SubmittersRCV002771062
NM_001369.3(DNAH5):c.12028G>A (p.Ala4010Thr) SNV
Germline		 Chr5:13727512 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3201775 rs_758777667

2 SubmittersRCV002756566
NM_001369.3(DNAH5):c.2779T>C (p.Ser927Pro) SNV
Germline		 Chr5:13885193 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204483 rs_752452948

2 SubmittersRCV002770261
NM_001369.3(DNAH5):c.971T>C (p.Leu324Pro) SNV
Germline		 Chr5:13919180 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3205023 rs_138034431

2 SubmittersRCV002780560RCV004546746
NM_001369.3(DNAH5):c.4736C>T (p.Ser1579Leu) SNV
Germline		 Chr5:13862608 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3203904 rs_184151103

2 SubmittersRCV002770726
NM_001369.3(DNAH5):c.5114+1G>A SNV
Germline		 Chr5:13850651 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359216343 rs_878854457

1 SubmittersRCV002823799
NM_001369.3(DNAH5):c.6754C>T (p.Gln2252Ter) SNV
Germline		 Chr5:13820433 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359194855 rs_2546843576

1 SubmittersRCV002815973
NM_001369.3(DNAH5):c.11810G>A (p.Trp3937Ter) SNV
Germline		 Chr5:13729512 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359220131 rs_527387894

1 SubmittersRCV002843103
NM_001369.3(DNAH5):c.11389C>T (p.Gln3797Ter) SNV
Germline		 Chr5:13737318 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359226336 rs_1467939954

2 SubmittersRCV002838695RCV005034441
NM_001369.3(DNAH5):c.4597-2A>T SNV
Germline		 Chr5:13862749 Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3203922 rs_756687157

2 SubmittersRCV002839412RCV005034444
NM_001369.3(DNAH5):c.12280-1G>A SNV
Germline		 Chr5:13719102 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359211806 rs_2546519097

1 SubmittersRCV002847529
NM_001369.3(DNAH5):c.6494T>A (p.Leu2165Ter) SNV
Germline		 Chr5:13824284 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359197760 rs_1762613802

1 SubmittersRCV002847652
NM_001369.3(DNAH5):c.10396G>A (p.Glu3466Lys) SNV
Germline		 Chr5:13758869 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3202254 rs_551833939

3 SubmittersRCV002852256RCV004763469
NM_001369.3(DNAH5):c.7610-1G>A SNV
Germline		 Chr5:13809187 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359231099 rs_2546801549

1 SubmittersRCV002865995
NM_001369.3(DNAH5):c.1989C>A (p.Tyr663Ter) SNV
Germline		 Chr5:13901315 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359205099 rs_2547091952

1 SubmittersRCV002857193
NM_001369.3(DNAH5):c.8951+1G>A SNV
Germline		 Chr5:13780828 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359212604 rs_207465619

1 SubmittersRCV002857909
NM_001369.3(DNAH5):c.1198-1G>A SNV
Germline		 Chr5:13914643 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359215608 rs_2547129868

1 SubmittersRCV002858081
NM_001369.3(DNAH5):c.7625G>A (p.Trp2542Ter) SNV
Germline		 Chr5:13809171 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359231032 rs_2546801418

1 SubmittersRCV002898621
NM_001369.3(DNAH5):c.8746C>G (p.Leu2916Val) SNV
Germline		 Chr5:13786253 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3202752 rs_373025050

3 SubmittersRCV002913945RCV006281091
NM_001369.3(DNAH5):c.10556-1G>A SNV
Germline		 Chr5:13753550 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA3202181 rs_751641706

1 SubmittersRCV002913545
NM_001369.3(DNAH5):c.3175-1G>A SNV
Germline		 Chr5:13882816 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359192507 rs_2547030385

1 SubmittersRCV002886626
NM_001369.3(DNAH5):c.13718A>G (p.Asn4573Ser) SNV
Germline		 Chr5:13700645 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA359190618 rs_1375781764

2 SubmittersRCV002907741
NM_001369.3(DNAH5):c.3918G>A (p.Trp1306Ter) SNV
Germline		 Chr5:13867909 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359229305 rs_2546988372

1 SubmittersRCV002909063
NM_001369.3(DNAH5):c.6989-6T>C SNV
Germline		 Chr5:13814852 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA1073397650 rs_1761231844

2 SubmittersRCV002886224RCV005034453
NM_001369.3(DNAH5):c.3277G>A (p.Ala1093Thr) SNV
Germline		 Chr5:13876803 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3204325 rs_369902145

2 SubmittersRCV002952431RCV004765602
NM_001369.3(DNAH5):c.4372C>T (p.Arg1458Trp) SNV
Germline		 Chr5:13864621 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3203990 rs_376641196

3 SubmittersRCV002914673RCV005639439
NM_001369.3(DNAH5):c.9356A>G (p.Lys3119Arg) SNV
Germline		 Chr5:13776456 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA359207901 rs_1251640049

2 SubmittersRCV002904352
NM_001369.3(DNAH5):c.1654C>T (p.Arg552Trp) SNV
Germline		 Chr5:13902129 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3204770 rs_535313247

2 SubmittersRCV002932103RCV003434521
NM_001369.3(DNAH5):c.13229C>G (p.Thr4410Ser) SNV
Germline		 Chr5:13708232 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3201416 rs_146334067

2 SubmittersRCV002927751
NM_001369.3(DNAH5):c.1518C>A (p.Asp506Glu) SNV
Germline		 Chr5:13913761 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204832 rs_757776893

2 SubmittersRCV002966659
NM_001369.3(DNAH5):c.5110A>G (p.Thr1704Ala) SNV
Germline		 Chr5:13850656 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3203804 rs_766353067

2 SubmittersRCV002943388
NM_001369.3(DNAH5):c.5624C>T (p.Thr1875Met) SNV
Germline		 Chr5:13840991 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3203626 rs_141131693

2 SubmittersRCV002948931
NM_001369.3(DNAH5):c.4290T>A (p.Tyr1430Ter) SNV
Germline		 Chr5:13865733 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359224756 rs_1769147841

1 SubmittersRCV003017871
NM_001369.3(DNAH5):c.8764C>T (p.Arg2922Cys) SNV
Germline		 Chr5:13786235 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3202745 rs_369455386

2 SubmittersRCV002963137RCV004763495
NM_001369.3(DNAH5):c.655G>T (p.Glu219Ter) SNV
Germline		 Chr5:13922112 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359222007 rs_2547155385

1 SubmittersRCV002979257
NM_001369.3(DNAH5):c.4591A>T (p.Ile1531Leu) SNV
Germline		 Chr5:13864402 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3203944 rs_781466090

2 SubmittersRCV002993717
NM_001369.3(DNAH5):c.3917G>A (p.Trp1306Ter) SNV
Germline		 Chr5:13867910 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359229309 rs_2546988377

1 SubmittersRCV002991523
NM_001369.3(DNAH5):c.1856A>C (p.Asn619Thr) SNV
Germline		 Chr5:13901448 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204728 rs_764337568

2 SubmittersRCV003010419
NM_001369.3(DNAH5):c.10963G>T (p.Glu3655Ter) SNV
Germline		 Chr5:13752199 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359190011 rs_2546611663

1 SubmittersRCV003016949
NM_001369.3(DNAH5):c.8225-1G>A SNV
Germline		 Chr5:13792218 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359219884 rs_2546737746

1 SubmittersRCV003018829
NM_001369.3(DNAH5):c.2431+1G>A SNV
Germline		 Chr5:13894649 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359200512 rs_2547068431

1 SubmittersRCV003016387
NM_001369.3(DNAH5):c.8059A>G (p.Asn2687Asp) SNV
Germline		 Chr5:13793680 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3202908 rs_139797525

2 SubmittersRCV003034162
NM_001369.3(DNAH5):c.12109G>T (p.Glu4037Ter) SNV
Germline		 Chr5:13721170 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359214603 rs_775060022

1 SubmittersRCV003027195
NM_001369.3(DNAH5):c.9897+1G>T SNV
Germline		 Chr5:13768959 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359201205 rs_914675446

1 SubmittersRCV003026944
NM_001369.3(DNAH5):c.8755G>T (p.Glu2919Ter) SNV
Germline		 Chr5:13786244 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359215204 rs_796964258

1 SubmittersRCV003030414
NM_001369.3(DNAH5):c.7408-1G>A SNV
Germline		 Chr5:13810261 Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359232565 rs_2546807137

2 SubmittersRCV003030436RCV005034593
NM_001369.3(DNAH5):c.9373+1G>T SNV
Germline		 Chr5:13776438 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359207658 rs_1754098584

1 SubmittersRCV003054922
NM_001369.3(DNAH5):c.10555+1G>T SNV
Germline		 Chr5:13754202 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359193078 rs_2546618242

1 SubmittersRCV003144763
NM_001369.3(DNAH5):c.2432-3A>G SNV
Germline		 Chr5:13891124 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3 Criteria Provided
Conflicting Classifications
 CA1073402451 rs_1773163926

2 SubmittersRCV003146746
NM_001369.3(DNAH5):c.1731-1G>C SNV
Germline		 Chr5:13901574 Pathogenic Condition: not provided
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359207556 rs_2547093291

2 SubmittersRCV003149329RCV004763606
NM_001369.3(DNAH5):c.8750A>C (p.Tyr2917Ser) SNV
Germline		 Chr5:13786249 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA113954421 rs_768141871

2 SubmittersRCV003779682
NM_001369.3(DNAH5):c.2732A>G (p.Asn911Ser) SNV
Germline		 Chr5:13885975 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204514 rs_142386498

2 SubmittersRCV003534993
NM_001369.3(DNAH5):c.13491+8C>A SNV
Germline		 Chr5:13701276 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA2578269570 rs_1742074967

2 SubmittersRCV003214130RCV003649437
NM_001369.3(DNAH5):c.13338+5G>C SNV
Germline		 Chr5:13708118 Pathogenic Primary ciliary dyskinesia 3 No Assertion Criteria Provided
 CA2580613513 rs_374718437

1 SubmittersRCV003228697
NM_001369.3(DNAH5):c.12493T>C (p.Tyr4165His) SNV
Germline		 Chr5:13718888 Pathogenic Primary ciliary dyskinesia 3 No Assertion Criteria Provided
 CA359208800 rs_1744666930

1 SubmittersRCV003234816
NM_001369.3(DNAH5):c.12072T>A (p.Tyr4024Ter) SNV
Germline		 Chr5:13721207 Likely pathogenic DNAH5-related disorder Criteria Provided
Single Submitter
 CA359214768 rs_1375859408

1 SubmittersRCV003404257
NM_001369.3(DNAH5):c.57+1G>A SNV
Germline		 Chr5:13944381 Likely pathogenic DNAH5-related disorder
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA113933363 rs_376118760

4 SubmittersRCV003419133RCV003992768
NM_001369.3(DNAH5):c.2225G>A (p.Arg742Gln) SNV
Germline		 Chr5:13900240 Conflicting classifications of pathogenicity DNAH5-related disorder
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA3204640 rs_560939419

2 SubmittersRCV003420710RCV003647985
NM_001369.3(DNAH5):c.2052+3G>T SNV
Germline		 Chr5:13901249 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA2695198581 rs_2547091579

1 SubmittersRCV003448945
NM_001369.3(DNAH5):c.3599-2A>G SNV
Germline		 Chr5:13871004 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359232497 rs_1187251909

1 SubmittersRCV003448946
NM_001369.3(DNAH5):c.10196T>C (p.Val3399Ala) SNV
Germline		 Chr5:13762807 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA359198282 rs_1398835710

2 SubmittersRCV003486379RCV003779263
NM_001369.3(DNAH5):c.12705+1G>A SNV
Germline		 Chr5:13717314 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359205872 rs_779993876

1 SubmittersRCV003535048
NM_001369.3(DNAH5):c.5399T>A (p.Leu1800Ter) SNV
Germline		 Chr5:13841777 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359211486 rs_1580524265

1 SubmittersRCV003536063
NM_001369.3(DNAH5):c.1717A>T (p.Lys573Ter) SNV
Germline		 Chr5:13902066 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359207898 rs_776722304

1 SubmittersRCV003536111
NM_001369.3(DNAH5):c.10420-1G>A SNV
Germline		 Chr5:13754339 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359194355 rs_2546618925

1 SubmittersRCV003536218
NM_001369.3(DNAH5):c.6580-1G>T SNV
Germline		 Chr5:13823371 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359196138 rs_2546854025

1 SubmittersRCV003536222
NM_001369.3(DNAH5):c.6165T>A (p.Cys2055Ter) SNV
Germline		 Chr5:13830110 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359201136 rs_2546878696

1 SubmittersRCV003536158
NM_001369.3(DNAH5):c.1924C>T (p.Gln642Ter) SNV
Germline		 Chr5:13901380 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359205436 rs_2547092303

1 SubmittersRCV003536319
NM_001369.3(DNAH5):c.2431+1G>T SNV
Germline		 Chr5:13894649 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359200510 rs_2547068431

1 SubmittersRCV003536040
NM_001369.3(DNAH5):c.8010+2T>C SNV
Germline		 Chr5:13793934 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359221739 rs_2546745451

1 SubmittersRCV003536087
NM_001369.3(DNAH5):c.13602T>A (p.Tyr4534Ter) SNV
Germline		 Chr5:13700761 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359191524 rs_1579806394

1 SubmittersRCV003536244
NM_001369.3(DNAH5):c.11923A>T (p.Lys3975Ter) SNV
Germline		 Chr5:13727617 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359218320 rs_2546542097

1 SubmittersRCV003536445
NM_001369.3(DNAH5):c.10399C>T (p.Gln3467Ter) SNV
Germline		 Chr5:13758866 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA3202253 rs_772481807

1 SubmittersRCV003537826
NM_001369.3(DNAH5):c.7870A>G (p.Thr2624Ala) SNV
Germline		 Chr5:13807608 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA359227598 rs_1296034184

2 SubmittersRCV003537829
NM_001369.3(DNAH5):c.5659G>T (p.Glu1887Ter) SNV
Germline		 Chr5:13840956 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359209038 rs_1179042084

1 SubmittersRCV003537675
NM_001369.3(DNAH5):c.11884-1G>C SNV
Germline		 Chr5:13727657 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359218421 rs_2546542315

1 SubmittersRCV003536398
NM_001369.3(DNAH5):c.12264G>T (p.Gln4088His) SNV
Germline		 Chr5:13721015 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3201701 rs_199672743

2 SubmittersRCV003537655
NM_001369.3(DNAH5):c.1417T>C (p.Phe473Leu) SNV
Germline		 Chr5:13913862 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA359214065 rs_1162532498

2 SubmittersRCV003539036
NM_001369.3(DNAH5):c.9721-1G>C SNV
Germline		 Chr5:13769137 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359202543 rs_2546656725

1 SubmittersRCV003537919
NM_001369.3(DNAH5):c.325A>T (p.Lys109Ter) SNV
Germline		 Chr5:13923393 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359224062 rs_2547160581

1 SubmittersRCV003539000
NM_001369.3(DNAH5):c.7097G>A (p.Arg2366Gln) SNV
Germline		 Chr5:13814738 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359190822 rs_2151800505

1 SubmittersRCV003538892
NM_001369.3(DNAH5):c.8497C>A (p.Arg2833Ser) SNV
Germline		 Chr5:13788866 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359217938 rs_766481283

1 SubmittersRCV003538990
NM_001369.3(DNAH5):c.13412G>A (p.Trp4471Ter) SNV
Germline		 Chr5:13701363 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359192908 rs_761077963

1 SubmittersRCV003535207
NM_001369.3(DNAH5):c.8648-2A>T SNV
Germline		 Chr5:13786353 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359215792 rs_2546713854

1 SubmittersRCV003536574
NM_001369.3(DNAH5):c.3683A>T (p.Glu1228Val) SNV
Germline		 Chr5:13870918 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204196 rs_751848182

2 SubmittersRCV003535129
NM_001369.3(DNAH5):c.2259+1G>A SNV
Germline		 Chr5:13900205 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359203174 rs_1341751250

1 SubmittersRCV003535545
NM_001369.3(DNAH5):c.1090-2A>C SNV
Germline		 Chr5:13916457 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359217296 rs_2547135442

1 SubmittersRCV003535525
NM_001369.3(DNAH5):c.9606-1G>A SNV
Germline		 Chr5:13769616 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359203382 rs_1160531469

1 SubmittersRCV003536819
NM_001369.3(DNAH5):c.3834+1G>A SNV
Germline		 Chr5:13870766 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359231160 rs_2546995478

1 SubmittersRCV003536981
NM_001369.3(DNAH5):c.7420G>T (p.Glu2474Ter) SNV
Germline		 Chr5:13810248 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359232503 rs_776559491

1 SubmittersRCV003537031
NM_001369.3(DNAH5):c.12500-2A>G SNV
Germline		 Chr5:13717522 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359208543 rs_2546512953

1 SubmittersRCV003536798
NM_001369.3(DNAH5):c.4488G>A (p.Trp1496Ter) SNV
Germline		 Chr5:13864505 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359224064 rs_2546978701

1 SubmittersRCV003536908
NM_001369.3(DNAH5):c.5485-1G>T SNV
Germline		 Chr5:13841131 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359210482 rs_1765101106

1 SubmittersRCV003536784
NM_001369.3(DNAH5):c.6908G>C (p.Gly2303Ala) SNV
Germline		 Chr5:13817628 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
not specified		 Criteria Provided
Conflicting Classifications
 CA359193036 rs_1580399696

2 SubmittersRCV003538277RCV006269861
NM_001369.3(DNAH5):c.640C>T (p.Gln214Ter) SNV
Germline		 Chr5:13922127 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359222105 rs_2547155495

1 SubmittersRCV003538298
NM_001369.3(DNAH5):c.10735C>T (p.Gln3579Ter) SNV
Germline		 Chr5:13753370 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359191512 rs_2546615030

1 SubmittersRCV003538162
NM_001369.3(DNAH5):c.11211+2T>C SNV
Germline		 Chr5:13751076 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359188795 rs_2546607933

1 SubmittersRCV003538094
NM_001369.3(DNAH5):c.7647C>G (p.Tyr2549Ter) SNV
Germline		 Chr5:13809149 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359230931 rs_2546801150

2 SubmittersRCV003538179RCV005036906
NM_001369.3(DNAH5):c.13018C>T (p.Gln4340Ter) SNV
Germline		 Chr5:13714512 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA3201476 rs_548721070

1 SubmittersRCV003648212
NM_001369.3(DNAH5):c.10870C>T (p.Gln3624Ter) SNV
Germline		 Chr5:13753235 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359190719 rs_1295167678

2 SubmittersRCV003647441RCV004790584
NM_001369.3(DNAH5):c.12262C>T (p.Gln4088Ter) SNV
Germline		 Chr5:13721017 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359213082 rs_1245106080

1 SubmittersRCV003647337
NM_001369.3(DNAH5):c.13338+1G>A SNV
Germline		 Chr5:13708122 Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359196214 rs_1219958424

2 SubmittersRCV003647509RCV005356488
NM_001369.3(DNAH5):c.5271+1G>T SNV
Germline		 Chr5:13844836 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359213481 rs_1288777017

1 SubmittersRCV003647502
NM_001369.3(DNAH5):c.9530C>A (p.Ser3177Ter) SNV
Germline		 Chr5:13770824 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359204487 rs_2546663053

1 SubmittersRCV003649730
NM_001369.3(DNAH5):c.8030G>C (p.Arg2677Pro) SNV
Germline		 Chr5:13793709 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359221624 rs_886043448

1 SubmittersRCV003649759
NM_001369.3(DNAH5):c.12673C>T (p.Gln4225Ter) SNV
Germline		 Chr5:13717347 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359206421 rs_1390701361

1 SubmittersRCV003649826
NM_001369.3(DNAH5):c.9019A>T (p.Lys3007Ter) SNV
Germline		 Chr5:13777288 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359210946 rs_1754239306

1 SubmittersRCV003649732
NM_001369.3(DNAH5):c.8875G>T (p.Gly2959Ter) SNV
Germline		 Chr5:13780905 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359212827 rs_147443285

1 SubmittersRCV003649733
NM_001369.3(DNAH5):c.2577+1G>T SNV
Germline		 Chr5:13890975 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA113936604 rs_867422125

1 SubmittersRCV003649846
NM_001369.3(DNAH5):c.1645-2A>G SNV
Germline		 Chr5:13902140 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359208728 rs_2547095136

1 SubmittersRCV003650871
NM_001369.3(DNAH5):c.3263-2A>G SNV
Germline		 Chr5:13876819 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359190455 rs_1327044106

1 SubmittersRCV003651072
NM_001369.3(DNAH5):c.6026A>G (p.Gln2009Arg) SNV
Germline		 Chr5:13830632 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3203505 rs_561922486

2 SubmittersRCV003651184
NM_001369.3(DNAH5):c.10900A>T (p.Arg3634Ter) SNV
Germline		 Chr5:13752262 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359190456 rs_1204076551

1 SubmittersRCV003651256
NM_001369.3(DNAH5):c.4087G>T (p.Glu1363Ter) SNV
Germline		 Chr5:13866249 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359226326 rs_776835054

1 SubmittersRCV003651296
NM_001369.3(DNAH5):c.3444G>A (p.Trp1148Ter) SNV
Germline		 Chr5:13871718 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA3204266 rs_771350745

1 SubmittersRCV003652423
NM_001369.3(DNAH5):c.1320+2T>C SNV
Germline		 Chr5:13914518 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359214701 rs_2547129339

1 SubmittersRCV003651236
NM_001369.3(DNAH5):c.8848G>T (p.Gly2950Ter) SNV
Germline		 Chr5:13780932 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359212909 rs_1338867680

2 SubmittersRCV003652487RCV005036934
NM_001369.3(DNAH5):c.12630C>A (p.Tyr4210Ter) SNV
Germline		 Chr5:13717390 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359207000 rs_766099303

1 SubmittersRCV003652625
NM_001369.3(DNAH5):c.5272-1G>A SNV
Germline		 Chr5:13841905 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359212572 rs_1765221562

1 SubmittersRCV003652703
NM_001369.3(DNAH5):c.4117-1G>A SNV
Germline		 Chr5:13865907 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359225881 rs_2546983271

1 SubmittersRCV003652619
NM_001369.3(DNAH5):c.6430C>T (p.Gln2144Ter) SNV
Germline		 Chr5:13829524 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA3203409 rs_748882657

1 SubmittersRCV003652784
NM_001369.3(DNAH5):c.694A>T (p.Lys232Ter) SNV
Germline		 Chr5:13920584 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359220827 rs_2547149327

1 SubmittersRCV003652458
NM_001369.3(DNAH5):c.11455+1G>T SNV
Germline		 Chr5:13737251 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359225716 rs_2546568726

1 SubmittersRCV003652492
NM_001369.3(DNAH5):c.6356T>A (p.Leu2119Ter) SNV
Germline		 Chr5:13829598 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359200075 rs_2546875919

1 SubmittersRCV003652547
NM_001369.3(DNAH5):c.476G>T (p.Gly159Val) SNV
Germline		 Chr5:13922291 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3205169 rs_185219431

2 SubmittersRCV003652713
NM_001369.3(DNAH5):c.4054-2A>G SNV
Germline		 Chr5:13866284 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359226976 rs_1769239782

1 SubmittersRCV003653895
NM_001369.3(DNAH5):c.2052+2T>C SNV
Germline		 Chr5:13901250 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359204664 rs_2547091584

1 SubmittersRCV003653929
NM_001369.3(DNAH5):c.8272G>T (p.Glu2758Ter) SNV
Germline		 Chr5:13792170 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359219616 rs_2546737515

1 SubmittersRCV003653935
NM_001369.3(DNAH5):c.9339G>A (p.Trp3113Ter) SNV
Germline		 Chr5:13776473 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359208066 rs_771586458

1 SubmittersRCV003654030
NM_001369.3(DNAH5):c.10996A>T (p.Arg3666Ter) SNV
Germline		 Chr5:13752166 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359189773 rs_2546611536

2 SubmittersRCV003654042RCV005036953
NM_001369.3(DNAH5):c.4409A>G (p.Lys1470Arg) SNV
Germline		 Chr5:13864584 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3203985 rs_746308685

2 SubmittersRCV003654116
NM_001369.3(DNAH5):c.798+1G>A SNV
Germline		 Chr5:13920479 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359220043 rs_1247757066

1 SubmittersRCV003649867
NM_001369.3(DNAH5):c.2744-2A>T SNV
Germline		 Chr5:13885230 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA3204489 rs_780757700

1 SubmittersRCV003649984
NM_001369.3(DNAH5):c.250T>C (p.Tyr84His) SNV
Germline		 Chr5:13928121 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA359226959 rs_1159823492

2 SubmittersRCV003649965
NM_001369.3(DNAH5):c.10363C>G (p.Gln3455Glu) SNV
Germline		 Chr5:13758902 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA359195529 rs_1433859526

2 SubmittersRCV003651325
NM_001369.3(DNAH5):c.1176G>C (p.Lys392Asn) SNV
Germline		 Chr5:13916369 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA113960386 rs_992976251

2 SubmittersRCV003651637
NM_001369.3(DNAH5):c.6307T>C (p.Ser2103Pro) SNV
Germline		 Chr5:13829647 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3		 Criteria Provided
Conflicting Classifications
 CA3203431 rs_777013412

2 SubmittersRCV003651646RCV004577045
NM_001369.3(DNAH5):c.10616G>C (p.Arg3539Pro) SNV
Germline		 Chr5:13753489 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359192142 rs_769458738

1 SubmittersRCV003651339
NM_001369.3(DNAH5):c.1593G>A (p.Met531Ile) SNV
Germline		 Chr5:13911437 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA359211932 rs_1216204013

2 SubmittersRCV003651494
NM_001369.3(DNAH5):c.2440G>T (p.Glu814Ter) SNV
Germline		 Chr5:13891113 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359199899 rs_2547057694

1 SubmittersRCV003651560
NM_001369.3(DNAH5):c.559G>A (p.Glu187Lys) SNV
Germline		 Chr5:13922208 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3205149 rs_759059925

2 SubmittersRCV003653059
NM_001369.3(DNAH5):c.6261T>G (p.Tyr2087Ter) SNV
Germline		 Chr5:13829693 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359200474 rs_1335539930

1 SubmittersRCV003652868
NM_001369.3(DNAH5):c.1717A>C (p.Lys573Gln) SNV
Germline		 Chr5:13902066 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204762 rs_776722304

2 SubmittersRCV003652937
NM_001369.3(DNAH5):c.4106T>C (p.Ile1369Thr) SNV
Germline		 Chr5:13866230 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA359226156 rs_1364768386

2 SubmittersRCV003817597
NM_001369.3(DNAH5):c.10954G>A (p.Val3652Ile) SNV
Germline		 Chr5:13752208 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3202091 rs_756103727

2 SubmittersRCV003823813
NM_001369.3(DNAH5):c.12205G>T (p.Glu4069Ter) SNV
Germline		 Chr5:13721074 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359213715 rs_2546525282

1 SubmittersRCV003822050
NM_001369.3(DNAH5):c.1047T>A (p.Tyr349Ter) SNV
Germline		 Chr5:13917185 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359217784 rs_1776735394

1 SubmittersRCV003822072
NM_001369.3(DNAH5):c.4936A>T (p.Lys1646Ter) SNV
Germline		 Chr5:13859466 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359219439 rs_775506164

1 SubmittersRCV003827637
NM_001369.3(DNAH5):c.3514C>T (p.Gln1172Ter) SNV
Germline		 Chr5:13871648 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359232971 rs_141168110

1 SubmittersRCV003827638
NM_001369.3(DNAH5):c.9286C>T (p.Arg3096Ter) SNV
Germline		 Chr5:13776526 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA113937662 rs_868444911

1 SubmittersRCV003830234
NM_001369.3(DNAH5):c.7469G>A (p.Trp2490Ter) SNV
Germline		 Chr5:13810199 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359232202 rs_2546806644

1 SubmittersRCV003842889
NM_001369.3(DNAH5):c.9575A>G (p.Lys3192Arg) SNV
Germline		 Chr5:13770779 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3202512 rs_771825187

2 SubmittersRCV003845464
NM_001369.3(DNAH5):c.870G>A (p.Trp290Ter) SNV
Germline		 Chr5:13919281 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA113963651 rs_916132038

2 SubmittersRCV003858850RCV005638670
NM_001369.3(DNAH5):c.12827T>C (p.Met4276Thr) SNV
Germline		 Chr5:13716569 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3201523 rs_749125278

2 SubmittersRCV003852031RCV004790632
NM_001369.3(DNAH5):c.10420-2A>G SNV
Germline		 Chr5:13754340 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359194369 rs_2546618928

1 SubmittersRCV003866034
NM_001369.3(DNAH5):c.10229C>T (p.Thr3410Met) SNV
Germline		 Chr5:13762774 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3202306 rs_186180802

4 SubmittersRCV003873295RCV005038606RCV006264179
NM_001369.3(DNAH5):c.1256C>A (p.Ser419Tyr) SNV
Germline		 Chr5:13914584 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3204900 rs_150010518

2 SubmittersRCV003879601
NM_001369.3(DNAH5):c.3784G>T (p.Glu1262Ter) SNV
Germline		 Chr5:13870817 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
 CA359231506 rs_1470329012

1 SubmittersRCV003871743
NM_001369.3(DNAH5):c.9586G>A (p.Val3196Met) SNV
Germline		 Chr5:13770768 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
 CA3202509 rs_369982479

2 SubmittersRCV003878705
NM_001369.3(DNAH5):c.5953G>C (p.Gly1985Arg) SNV
Germline		 Chr5:13830705 Likely pathogenic DNAH5-related disorder No Assertion Criteria Provided
 CA359202813 rs_2546882158

1 SubmittersRCV003893890
NM_001369.3(DNAH5):c.5115G>T (p.Gly1705=) SNV
Germline		 Chr5:13844993 Conflicting classifications of pathogenicity DNAH5-related disorder
Primary ciliary dyskinesia		 No Assertion Criteria Provided
 CA443258363 rs_768906272

2 SubmittersRCV003964325RCV005618331
NM_001369.3(DNAH5):c.1320+1G>A SNV
Germline		 Chr5:13914519 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter
 CA359214711 rs_2547129342

1 SubmittersRCV003993509
NM_001369.3(DNAH5):c.1536+1G>C SNV
Germline		 Chr5:13913742 Likely pathogenic DNAH5-related disorder No Assertion Criteria Provided

1 SubmittersRCV004729916
NM_001369.3(DNAH5):c.2259+1G>T SNV
Germline		 Chr5:13900205 Likely pathogenic DNAH5-related disorder No Assertion Criteria Provided

1 SubmittersRCV004724708
NM_001369.3(DNAH5):c.817C>T (p.Gln273Ter) SNV
Germline		 Chr5:13919334 Pathogenic Respiratory ciliopathies including non-CF bronchiectasis
Primary ciliary dyskinesia		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004783162RCV006565314
NM_001369.3(DNAH5):c.4985G>A (p.Trp1662Ter) SNV
Germline		 Chr5:13850781 Pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter

1 SubmittersRCV004795694
NM_001369.3(DNAH5):c.13141C>T (p.Gln4381Ter) SNV
Germline		 Chr5:13708320 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter

1 SubmittersRCV005043153
NM_001369.3(DNAH5):c.13126-1G>C SNV
Germline		 Chr5:13708336 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter

1 SubmittersRCV005033313
NM_001369.3(DNAH5):c.11883+1G>A SNV
Germline		 Chr5:13729438 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter

1 SubmittersRCV005033316
NM_001369.3(DNAH5):c.10757T>A (p.Leu3586Ter) SNV
Germline		 Chr5:13753348 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter

1 SubmittersRCV005033317
NM_001369.3(DNAH5):c.10555+1G>C SNV
Germline		 Chr5:13754202 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter

1 SubmittersRCV005043156
NM_001369.3(DNAH5):c.10102-1G>C SNV
Germline		 Chr5:13762902 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter

1 SubmittersRCV005043157
NM_001369.3(DNAH5):c.10102-1G>A SNV
Germline		 Chr5:13762902 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter

1 SubmittersRCV005033318
NM_001369.3(DNAH5):c.8692G>T (p.Glu2898Ter) SNV
Germline		 Chr5:13786307 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter

1 SubmittersRCV005033322
NM_001369.3(DNAH5):c.6842-1G>A SNV
Germline		 Chr5:13817695 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter

1 SubmittersRCV005033326
NM_001369.3(DNAH5):c.5271+1G>A SNV
Germline		 Chr5:13844836 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter

1 SubmittersRCV005043160
NM_001369.3(DNAH5):c.3721A>T (p.Lys1241Ter) SNV
Germline		 Chr5:13870880 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter

1 SubmittersRCV005033334
NM_001369.3(DNAH5):c.3598G>A (p.Ala1200Thr) SNV
Germline		 Chr5:13871564 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter

1 SubmittersRCV005033335
NM_001369.3(DNAH5):c.3396+1G>A SNV
Germline		 Chr5:13876683 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter

1 SubmittersRCV005033336
NM_001369.3(DNAH5):c.2695G>T (p.Glu899Ter) SNV
Germline		 Chr5:13886012 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter

1 SubmittersRCV005043163
NM_001369.3(DNAH5):c.2557G>T (p.Glu853Ter) SNV
Germline		 Chr5:13890996 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter

1 SubmittersRCV005033338
NM_001369.3(DNAH5):c.2053-2A>G SNV
Germline		 Chr5:13900414 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter

1 SubmittersRCV005033340
NM_001369.3(DNAH5):c.877A>T (p.Arg293Ter) SNV
Germline		 Chr5:13919274 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter

1 SubmittersRCV005033343
NM_001369.3(DNAH5):c.4389G>A (p.Trp1463Ter) SNV
Germline		 Chr5:13864604 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter

1 SubmittersRCV005074159
NM_001369.3(DNAH5):c.6271C>T (p.Gln2091Ter) SNV
Germline		 Chr5:13829683 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter

1 SubmittersRCV005120471
NM_001369.3(DNAH5):c.12542G>A (p.Trp4181Ter) SNV
Germline		 Chr5:13717478 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter

1 SubmittersRCV005120675
NM_001369.3(DNAH5):c.4146C>A (p.Tyr1382Ter) SNV
Germline		 Chr5:13865877 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter

1 SubmittersRCV005130576
NM_001369.3(DNAH5):c.10590T>A (p.Tyr3530Ter) SNV
Germline		 Chr5:13753515 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter

1 SubmittersRCV005116802
NM_001369.3(DNAH5):c.3115G>T (p.Glu1039Ter) SNV
Germline		 Chr5:13882963 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter

1 SubmittersRCV005125836
NM_001369.3(DNAH5):c.9374-2A>C SNV
Germline		 Chr5:13770982 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter

1 SubmittersRCV005123988
NM_001369.3(DNAH5):c.5485-1G>A SNV
Germline		 Chr5:13841131 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter

1 SubmittersRCV005142469
NM_001369.3(DNAH5):c.119T>G (p.Leu40Ter) SNV
Germline		 Chr5:13931183 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter

1 SubmittersRCV005148290
NM_001369.3(DNAH5):c.11455+1G>C SNV
Germline		 Chr5:13737251 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter

1 SubmittersRCV005151696
NM_001369.3(DNAH5):c.4116+1G>A SNV
Germline		 Chr5:13866219 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter

1 SubmittersRCV005189297
NM_001369.3(DNAH5):c.9883G>T (p.Glu3295Ter) SNV
Germline		 Chr5:13768974 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter

1 SubmittersRCV005183680
NM_001369.3(DNAH5):c.13096A>T (p.Lys4366Ter) SNV
Germline		 Chr5:13714434 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter

2 SubmittersRCV005200478
NM_001369.3(DNAH5):c.2986A>G (p.Ser996Gly) SNV
Germline		 Chr5:13883092 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005326565RCV006278202
NM_001369.3(DNAH5):c.5561A>T (p.Lys1854Ile) SNV
Germline		 Chr5:13841054 Pathogenic Respiratory ciliopathies including non-CF bronchiectasis Criteria Provided
Single Submitter

1 SubmittersRCV005416073
NM_001369.3(DNAH5):c.12640C>T (p.Gln4214Ter) SNV
Germline		 Chr5:13717380 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter

1 SubmittersRCV005431056
NM_001369.3(DNAH5):c.10363C>T (p.Gln3455Ter) SNV
Germline		 Chr5:13758902 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005437551
NM_001369.3(DNAH5):c.4287T>G (p.Tyr1429Ter) SNV
Germline		 Chr5:13865736 Likely pathogenic Primary ciliary dyskinesia No Assertion Criteria Provided

1 SubmittersRCV005615615
NM_001369.3(DNAH5):c.5302C>T (p.Gln1768Ter) SNV
Germline		 Chr5:13841874 Likely pathogenic Primary ciliary dyskinesia No Assertion Criteria Provided

1 SubmittersRCV005615638
NM_001369.3(DNAH5):c.1489C>T (p.Gln497Ter) SNV
Germline		 Chr5:13913790 Pathogenic Primary ciliary dyskinesia No Assertion Criteria Provided

1 SubmittersRCV005615672
NM_001369.3(DNAH5):c.13126-2A>T SNV
Germline		 Chr5:13708337 Likely pathogenic Primary ciliary dyskinesia No Assertion Criteria Provided

1 SubmittersRCV005615699
NM_001369.3(DNAH5):c.3420C>A (p.Cys1140Ter) SNV
Germline		 Chr5:13871742 Likely pathogenic Primary ciliary dyskinesia No Assertion Criteria Provided

1 SubmittersRCV005615485
NM_001369.3(DNAH5):c.2410G>T (p.Glu804Ter) SNV
Germline		 Chr5:13894671 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter

1 SubmittersRCV005636355
NM_001369.3(DNAH5):c.1198-2A>G SNV
Germline		 Chr5:13914644 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter

1 SubmittersRCV005636357
NM_001369.3(DNAH5):c.5114+1G>T SNV
Unknown		 Chr5:13850651 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter

1 SubmittersRCV005637635
NM_001369.3(DNAH5):c.8225-1G>T SNV
Unknown		 Chr5:13792218 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter

1 SubmittersRCV005637636
NM_001369.3(DNAH5):c.12705+1G>C SNV
Unknown		 Chr5:13717314 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter

1 SubmittersRCV005637638
NM_001369.3(DNAH5):c.5527G>T (p.Glu1843Ter) SNV
Germline		 Chr5:13841088 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter

1 SubmittersRCV006486311
NM_001369.3(DNAH5):c.12748C>T (p.Gln4250Ter) SNV
Germline		 Chr5:13716648 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter

1 SubmittersRCV006481947
NM_001369.3(DNAH5):c.1726G>T (p.Glu576Ter) SNV
Germline		 Chr5:13902057 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter

1 SubmittersRCV006499048
NM_001369.3(DNAH5):c.6061+1G>C SNV
Germline		 Chr5:13830596 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter

1 SubmittersRCV006530547
NM_001369.3(DNAH5):c.3675C>A (p.Tyr1225Ter) SNV
Germline		 Chr5:13870926 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter

1 SubmittersRCV006526556
NM_001369.3(DNAH5):c.7970A>T (p.Asp2657Val) SNV
Germline		 Chr5:13793976 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter

1 SubmittersRCV006533557
NM_001369.3(DNAH5):c.7769G>T (p.Gly2590Val) SNV
Germline		 Chr5:13807709 Likely pathogenic Primary ciliary dyskinesia 3 Criteria Provided
Single Submitter

1 SubmittersRCV006553747
NM_001369.3(DNAH5):c.1582C>T (p.Gln528Ter) SNV
Germline		 Chr5:13911448 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter

1 SubmittersRCV006618509