A total 216 pathogenic variants reported in gene coiled-coil domain 39 molecular ruler complex subunit (CCDC39)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_181426.2(CCDC39):c.357+1G>C SNV
Germline
Chr3:180661860 Pathogenic Primary ciliary dyskinesia 14
Primary ciliary dyskinesia
Condition: not provided
Infertility disorder
CCDC39-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA338429 rs_397515392

11 SubmittersRCV000024061RCV000199155RCV001092443RCV001327942RCV003914861

NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile) SNV
Germline
Chr3:180651495 Conflicting classifications of pathogenicity not specified
Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 14
Criteria Provided
Conflicting Classifications
CA233637 rs_183413880

12 SubmittersRCV000250032RCV000827145RCV001082090RCV001145787

NM_181426.2(CCDC39):c.2534T>C (p.Ile845Thr) SNV
Germline
Chr3:180616568 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 14
Criteria Provided
Conflicting Classifications
CA241122 rs_139560004

5 SubmittersRCV000250356RCV001087266RCV000724053RCV001145561

NM_181426.2(CCDC39):c.1035-5T>C SNV
Germline
Chr3:180651538 Conflicting classifications of pathogenicity not specified
Condition: not provided
Primary ciliary dyskinesia
Criteria Provided
Conflicting Classifications
CA248275 rs_200089274

3 SubmittersRCV000246088RCV000724057RCV002515301

NM_181426.2(CCDC39):c.610-2A>G SNV
Germline
Chr3:180659582 Pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 14
Criteria Provided
Multiple Submitters
No Conflicts
CA339257 rs_756235547

6 SubmittersRCV000200347RCV001781580

NM_181426.2(CCDC39):c.2548A>G (p.Thr850Ala) SNV
Germline
Chr3:180616554 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 14
Criteria Provided
Conflicting Classifications
CA349495 rs_201963508

5 SubmittersRCV000205337RCV003430762RCV002485338

NM_181426.2(CCDC39):c.2299T>C (p.Leu767=) SNV
Germline
Chr3:180616933 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
not specified
Primary ciliary dyskinesia 14
Condition: not provided
Criteria Provided
Conflicting Classifications
CA350150 rs_200913298

7 SubmittersRCV000206081RCV000244505RCV001094885RCV003430763

NM_181426.2(CCDC39):c.2057A>G (p.Asn686Ser) SNV
Germline
Chr3:180619912 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 14
Condition: not provided
Criteria Provided
Conflicting Classifications
CA349473 rs_201586263

4 SubmittersRCV000205312RCV000765714RCV004791327

NM_181426.2(CCDC39):c.2557C>T (p.Arg853Cys) SNV
Germline
Chr3:180616545 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia 14
Primary ciliary dyskinesia
Criteria Provided
Conflicting Classifications
CA2715643 rs_201097154

5 SubmittersRCV000219574RCV000404918RCV001853433

NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile) SNV
Germline
Chr3:180641993 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 14
CCDC39-related disorder
Criteria Provided
Conflicting Classifications
CA2715852 rs_769223754

5 SubmittersRCV000214679RCV000233515RCV005025350RCV003417772

NM_181426.2(CCDC39):c.1865A>G (p.Glu622Gly) SNV
Germline
Chr3:180642002 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 14
Condition: not provided
CCDC39-related disorder
Criteria Provided
Conflicting Classifications
CA2715854 rs_200277460

5 SubmittersRCV000229530RCV001094925RCV003884429RCV004755824

NM_181426.2(CCDC39):c.1781C>T (p.Thr594Ile) SNV
Germline
Chr3:180642086 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia 14
Condition: not provided
Primary ciliary dyskinesia
CCDC39-related disorder
Criteria Provided
Conflicting Classifications
CA2715875 rs_140505857

12 SubmittersRCV000478638RCV000677328RCV000767051RCV001086160RCV003967673

NM_181426.2(CCDC39):c.2823A>G (p.Lys941=) SNV
Germline
Chr3:180614924 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 14
Criteria Provided
Conflicting Classifications
CA2715586 rs_751844801

3 SubmittersRCV000242620RCV002518665RCV001149887

NM_181426.2(CCDC39):c.1896A>G (p.Leu632=) SNV
Germline
Chr3:180631571 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
not specified
Primary ciliary dyskinesia 14
Criteria Provided
Conflicting Classifications
CA2715831 rs_79353057

4 SubmittersRCV000294522RCV000247466RCV001094924

NM_181426.2(CCDC39):c.900T>A (p.His300Gln) SNV
Germline
Chr3:180654792 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 14
Criteria Provided
Conflicting Classifications
CA2716059 rs_201684898

4 SubmittersRCV000246808RCV000370071RCV001094894

NM_181426.2(CCDC39):c.853G>A (p.Val285Met) SNV
Germline
Chr3:180654839 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Criteria Provided
Conflicting Classifications
CA10586855 rs_886038751

2 SubmittersRCV000242850RCV004822026

NM_181426.2(CCDC39):c.863G>A (p.Arg288His) SNV
Germline
Chr3:180654829 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 14
Criteria Provided
Conflicting Classifications
CA2716066 rs_576805965

3 SubmittersRCV000325833RCV001094896

NM_181426.2(CCDC39):c.654T>C (p.Asn218=) SNV
Germline
Chr3:180659536 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
CA10615346 rs_886058199

2 SubmittersRCV000290800

NM_181426.2(CCDC39):c.396G>A (p.Leu132=) SNV
Germline
Chr3:180660690 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 14
Primary ciliary dyskinesia
Criteria Provided
Conflicting Classifications
CA2716180 rs_201923286

3 SubmittersRCV000335489RCV002057870

NM_181426.2(CCDC39):c.42G>A (p.Gly14=) SNV
Germline
Chr3:180679339 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 14
Primary ciliary dyskinesia
Criteria Provided
Conflicting Classifications
CA2716270 rs_759103433

2 SubmittersRCV000407605RCV002520109

NM_181426.2(CCDC39):c.1833G>A (p.Ala611=) SNV
Germline
Chr3:180642034 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 14
Primary ciliary dyskinesia
Criteria Provided
Conflicting Classifications
CA2715862 rs_371164022

2 SubmittersRCV000380806RCV003114503

NM_181426.2(CCDC39):c.1198G>T (p.Gly400Cys) SNV
Germline
Chr3:180648329 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 14
Criteria Provided
Conflicting Classifications
CA2715989 rs_147383873

4 SubmittersRCV000601626RCV000404264RCV001094814

NM_181426.2(CCDC39):c.880A>G (p.Arg294Gly) SNV
Germline
Chr3:180654812 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 14
CCDC39-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2716064 rs_61733577

5 SubmittersRCV000270726RCV001094895RCV003972455RCV002259338

NM_181426.2(CCDC39):c.2079C>T (p.Tyr693=) SNV
Germline
Chr3:180619890 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 14
Criteria Provided
Conflicting Classifications
CA2715773 rs_376782159

2 SubmittersRCV000330104RCV001094888

NM_181426.2(CCDC39):c.1362+13T>C SNV
Germline
Chr3:180648152 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 14
Primary ciliary dyskinesia
Criteria Provided
Conflicting Classifications
CA2715968 rs_369141426

2 SubmittersRCV000343218RCV002057868

NM_181426.2(CCDC39):c.210+4C>T SNV
Germline
Chr3:180663863 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 14
Criteria Provided
Conflicting Classifications
CA2716228 rs_182803063

3 SubmittersRCV000281391RCV001094765

NM_181426.2(CCDC39):c.2715A>G (p.Lys905=) SNV
Germline
Chr3:180615032 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 14
Primary ciliary dyskinesia
Criteria Provided
Conflicting Classifications
CA10618085 rs_886058198

2 SubmittersRCV000309224RCV003650573

NM_181426.2(CCDC39):c.1818T>C (p.His606=) SNV
Germline
Chr3:180642049 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 14
Criteria Provided
Conflicting Classifications
CA2715865 rs_199503571

3 SubmittersRCV000291362RCV001094926

NM_181426.2(CCDC39):c.1728C>T (p.His576=) SNV
Germline
Chr3:180642139 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 14
Criteria Provided
Conflicting Classifications
CA2715884 rs_376737530

3 SubmittersRCV000346262RCV001094761

NM_181426.2(CCDC39):c.1034+11A>G SNV
Germline
Chr3:180652152 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 14
Primary ciliary dyskinesia
Criteria Provided
Conflicting Classifications
CA2716036 rs_780737889

2 SubmittersRCV000368584RCV002057869

NM_181426.2(CCDC39):c.1167+1261A>G SNV
Germline
Chr3:180650140 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 14
Criteria Provided
Multiple Submitters
No Conflicts
CA16611181 rs_577069249

6 SubmittersRCV000477112RCV003322774RCV004525933

NM_181426.2(CCDC39):c.2226C>A (p.Tyr742Ter) SNV
Germline
Chr3:180619298 Pathogenic/Likely pathogenic Condition: not provided
Primary ciliary dyskinesia 14
Primary ciliary dyskinesia
Criteria Provided
Multiple Submitters
No Conflicts
CA16617854 rs_772219642

5 SubmittersRCV000479757RCV001078460RCV005090933

NM_181426.2(CCDC39):c.2558G>A (p.Arg853His) SNV
Germline
Chr3:180616544 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 14
Criteria Provided
Conflicting Classifications
CA2715642 rs_147183244

3 SubmittersRCV000537244RCV001145559

NM_181426.2(CCDC39):c.2551G>T (p.Glu851Ter) SNV
Germline
Chr3:180616551 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355305143 rs_1553800956

1 SubmittersRCV000558884

NM_181426.2(CCDC39):c.1034+2T>A SNV
Germline
Chr3:180652161 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA355299226 rs_1210953680

2 SubmittersRCV000534994RCV000729528

NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter) SNV
Germline
Chr3:180642072 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Ellis-van Creveld syndrome
Primary ciliary dyskinesia 14
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2715872 rs_201780665

5 SubmittersRCV000552448RCV000754965RCV001289545RCV002223222

NM_181426.2(CCDC39):c.1874+1G>A SNV
Germline
Chr3:180641992 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355308804 rs_1553803540

1 SubmittersRCV000541225

NM_181426.2(CCDC39):c.547T>C (p.Leu183=) SNV
Germline
Chr3:180659739 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 14
Criteria Provided
Conflicting Classifications
CA2716142 rs_375301243

2 SubmittersRCV000551213RCV001150115

NM_181426.2(CCDC39):c.272A>G (p.Gln91Arg) SNV
Germline
Chr3:180661946 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 14
Criteria Provided
Conflicting Classifications
CA2716208 rs_201157338

3 SubmittersRCV000629636RCV003640930

NM_181426.2(CCDC39):c.1363-11A>G SNV
Germline
Chr3:180647254 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA658796400 rs_1553804100

1 SubmittersRCV000629411

NM_181426.2(CCDC39):c.2409T>C (p.Cys803=) SNV
Germline
Chr3:180616693 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
CCDC39-related disorder
Primary ciliary dyskinesia 14
Criteria Provided
Conflicting Classifications
CA2715667 rs_201601768

4 SubmittersRCV000629523RCV003945579RCV001145677

NM_181426.2(CCDC39):c.402T>A (p.Cys134Ter) SNV
Germline
Chr3:180660684 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355303551 rs_1560092440

1 SubmittersRCV000686387

NM_181426.2(CCDC39):c.137G>A (p.Arg46His) SNV
Germline
Chr3:180663940 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 14
Criteria Provided
Conflicting Classifications
CA2716239 rs_376716008

3 SubmittersRCV000690434RCV002485639

NM_181426.2(CCDC39):c.1665+1G>A SNV
Germline
Chr3:180644119 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Respiratory ciliopathies including non-CF bronchiectasis
Criteria Provided
Multiple Submitters
No Conflicts
CA2715908 rs_753580394

3 SubmittersRCV000697641RCV005416036

NM_181426.2(CCDC39):c.286C>T (p.Arg96Ter) SNV
Germline
Chr3:180661932 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA2716207 rs_778577109

1 SubmittersRCV000685321

NM_181426.2(CCDC39):c.1954C>T (p.Pro652Ser) SNV
Germline
Chr3:180631513 Conflicting classifications of pathogenicity not specified
CCDC39-related disorder
Primary ciliary dyskinesia 14
Primary ciliary dyskinesia
Criteria Provided
Conflicting Classifications
CA2715821 rs_145506099

5 SubmittersRCV000825717RCV004756045RCV001150006RCV000861311

NM_181426.2(CCDC39):c.885G>A (p.Thr295=) SNV
Germline
Chr3:180654807 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 14
CCDC39-related disorder
Criteria Provided
Conflicting Classifications
CA2716063 rs_775454434

4 SubmittersRCV000861105RCV001148549RCV003918322

NM_181426.2(CCDC39):c.1176T>C (p.Asp392=) SNV
Germline
Chr3:180648351 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 14
Criteria Provided
Conflicting Classifications
CA2715993 rs_749497447

3 SubmittersRCV000864558RCV001145785

NM_181426.2(CCDC39):c.2596G>T (p.Glu866Ter) SNV
Germline
Chr3:180616354 Pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 14
Criteria Provided
Multiple Submitters
No Conflicts
CA2715618 rs_757823891

2 SubmittersRCV001047685RCV005029609

NM_181426.2(CCDC39):c.493C>T (p.Gln165Ter) SNV
Germline
Chr3:180660593 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355303120 rs_1711717951

1 SubmittersRCV001049637

NM_181426.2(CCDC39):c.2T>C (p.Met1Thr) SNV
Germline
Chr3:180679379 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 14
Criteria Provided
Conflicting Classifications
CA2716280 rs_758493174

4 SubmittersRCV001036193RCV004768796RCV002489541

NM_181426.2(CCDC39):c.1168-2A>C SNV
Germline
Chr3:180648361 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355311057 rs_1468349011

1 SubmittersRCV001046022

NM_181426.2(CCDC39):c.139G>T (p.Glu47Ter) SNV
Germline
Chr3:180663938 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA355304382 rs_774316525

1 SubmittersRCV001092444

NM_181426.2(CCDC39):c.2549C>G (p.Thr850Ser) SNV
Germline
Chr3:180616553 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 14
Primary ciliary dyskinesia
Criteria Provided
Conflicting Classifications
CA2715646 rs_201996796

3 SubmittersRCV001145560RCV002451340

NM_181426.2(CCDC39):c.2526A>G (p.Leu842=) SNV
Germline
Chr3:180616576 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 14
Primary ciliary dyskinesia
Criteria Provided
Conflicting Classifications
CA437070304 rs_1717252361

2 SubmittersRCV001145676RCV003537481

NM_181426.2(CCDC39):c.1137T>C (p.Asp379=) SNV
Germline
Chr3:180651431 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 14
Primary ciliary dyskinesia
CCDC39-related disorder
Criteria Provided
Conflicting Classifications
CA2716008 rs_374132008

3 SubmittersRCV001145786RCV002559408RCV003973104

NM_181426.2(CCDC39):c.2407-8A>T SNV
Germline
Chr3:180616703 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 14
Primary ciliary dyskinesia
Criteria Provided
Conflicting Classifications
CA2715669 rs_769021943

2 SubmittersRCV001145679RCV003537482

NM_181426.2(CCDC39):c.2266-5T>C SNV
Germline
Chr3:180616971 Conflicting classifications of pathogenicity Primary ciliary dyskinesia 14
Primary ciliary dyskinesia
CCDC39-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA2715717 rs_200409307

4 SubmittersRCV001148437RCV002070799RCV003918732RCV005437005

NM_181426.2(CCDC39):c.2795G>A (p.Ser932Asn) SNV
Germline
Chr3:180614952 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2715591 rs_199649763

3 SubmittersRCV001209717RCV003151837

NM_181426.2(CCDC39):c.664G>T (p.Glu222Ter) SNV
Germline
Chr3:180659526 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA88636038 rs_1047910260

1 SubmittersRCV001212775

NM_181426.2(CCDC39):c.2586+1G>A SNV
Germline
Chr3:180616515 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA2715636 rs_758362162

1 SubmittersRCV001206179

NM_181426.2(CCDC39):c.1666-9C>G SNV
Germline
Chr3:180642210 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA1139655831 rs_1717971093

1 SubmittersRCV001217910

NM_181426.2(CCDC39):c.1971G>T (p.Glu657Asp) SNV
Germline
Chr3:180631496 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
CA2715815 rs_111451119

2 SubmittersRCV001244281

NM_181426.2(CCDC39):c.1167G>A (p.Lys389=) SNV
Germline
Chr3:180651401 Likely pathogenic Primary ciliary dyskinesia 14 No Assertion Criteria Provided
CA437079814 rs_1718204545

1 SubmittersRCV001257432

NM_181426.2(CCDC39):c.782T>A (p.Leu261Ter) SNV
Germline
Chr3:180654910 Likely pathogenic Primary ciliary dyskinesia 14 Criteria Provided
Single Submitter
CA355300562 rs_779435800

1 SubmittersRCV001289544

NM_181426.2(CCDC39):c.1969G>A (p.Glu657Lys) SNV
Germline
Chr3:180631498 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 14
Criteria Provided
Conflicting Classifications
CA2715816 rs_200459402

3 SubmittersRCV001327216RCV003640962

NM_181426.2(CCDC39):c.2335C>T (p.Gln779Ter) SNV
Germline
Chr3:180616897 Pathogenic/Likely pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 14
Criteria Provided
Multiple Submitters
No Conflicts
CA355305657 rs_1717267418

2 SubmittersRCV001380089RCV002499789

NM_181426.2(CCDC39):c.1999-2A>T SNV
Germline
Chr3:180619972 Pathogenic/Likely pathogenic Primary ciliary dyskinesia 14
Primary ciliary dyskinesia
Criteria Provided
Multiple Submitters
No Conflicts
CA355307458 rs_1399517463

3 SubmittersRCV001780458RCV002541113

NM_181426.2(CCDC39):c.1356C>A (p.Tyr452Ter) SNV
Germline
Chr3:180648171 Pathogenic Primary ciliary dyskinesia
Respiratory ciliopathies including non-CF bronchiectasis
Criteria Provided
Multiple Submitters
No Conflicts
CA88644682 rs_375839864

3 SubmittersRCV001849601RCV005253901

NM_181426.2(CCDC39):c.531A>G (p.Gln177=) SNV
Germline
Chr3:180659755 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Primary ciliary dyskinesia 14
Criteria Provided
Conflicting Classifications
CA2716145 rs_779897284

2 SubmittersRCV002033961RCV002486768

NM_181426.2(CCDC39):c.2350C>T (p.Gln784Ter) SNV
Germline
Chr3:180616882 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355305622 rs_2108404522

1 SubmittersRCV001877893

NM_181426.2(CCDC39):c.2017G>T (p.Glu673Ter) SNV
Germline
Chr3:180619952 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA2715786 rs_762287443

1 SubmittersRCV001934811

NM_181426.2(CCDC39):c.1874+2T>C SNV
Germline
Chr3:180641991 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355308800 rs_1717963637

1 SubmittersRCV002415156

NM_181426.2(CCDC39):c.277G>T (p.Glu93Ter) SNV
Germline
Chr3:180661941 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355303998 rs_2473826256

1 SubmittersRCV002439723

NM_181426.2(CCDC39):c.1886G>A (p.Arg629His) SNV
Germline
Chr3:180631581 Conflicting classifications of pathogenicity Primary ciliary dyskinesia Criteria Provided
Conflicting Classifications
CA2715836 rs_368439919

2 SubmittersRCV003065048

NM_181426.2(CCDC39):c.610-2A>C SNV
Germline
Chr3:180659582 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355302468 rs_756235547

1 SubmittersRCV002602807

NM_181426.2(CCDC39):c.2194C>T (p.Gln732Ter) SNV
Germline
Chr3:180619330 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355306999 rs_1717357943

1 SubmittersRCV002620560

NM_181426.2(CCDC39):c.841A>T (p.Lys281Ter) SNV
Germline
Chr3:180654851 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355300423 rs_376352893

1 SubmittersRCV002577203

NM_181426.2(CCDC39):c.2470C>T (p.Gln824Ter) SNV
Germline
Chr3:180616632 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355305336 rs_1423596492

1 SubmittersRCV002591242

NM_181426.2(CCDC39):c.210+2T>C SNV
Germline
Chr3:180663865 Pathogenic Primary ciliary dyskinesia
Primary ciliary dyskinesia 14
Criteria Provided
Multiple Submitters
No Conflicts
CA355304160 rs_779447025

2 SubmittersRCV002594438RCV003152801

NM_181426.2(CCDC39):c.891T>G (p.Tyr297Ter) SNV
Germline
Chr3:180654801 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355300317 rs_2473817538

1 SubmittersRCV002918992

NM_181426.2(CCDC39):c.90+1G>C SNV
Unknown
Chr3:180679290 Likely pathogenic Primary ciliary dyskinesia 14 Criteria Provided
Single Submitter
CA355306395 rs_2473845881

1 SubmittersRCV003153221

NM_181426.2(CCDC39):c.983T>C (p.Leu328Pro) SNV
Germline
Chr3:180652214 Pathogenic Primary ciliary dyskinesia 14 No Assertion Criteria Provided
CA355299423 rs_1338737312

1 SubmittersRCV003236698

NM_181426.2(CCDC39):c.516+1G>A SNV
Germline
Chr3:180660569 Likely pathogenic Primary ciliary dyskinesia 14
Primary ciliary dyskinesia
Criteria Provided
Multiple Submitters
No Conflicts
CA355302996 rs_2473824830

2 SubmittersRCV003340982RCV003535013

NM_181426.2(CCDC39):c.1801G>T (p.Glu601Ter) SNV
Germline
Chr3:180642066 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355308971 rs_2473804044

1 SubmittersRCV003536122

NM_181426.2(CCDC39):c.2569C>T (p.Gln857Ter) SNV
Germline
Chr3:180616533 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355305107 rs_2473777138

1 SubmittersRCV003536095

NM_181426.2(CCDC39):c.529C>T (p.Gln177Ter) SNV
Germline
Chr3:180659757 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355302874 rs_1415205563

1 SubmittersRCV003537588

NM_181426.2(CCDC39):c.1579C>T (p.Gln527Ter) SNV
Germline
Chr3:180644206 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355309637 rs_1168132298

1 SubmittersRCV003537825

NM_181426.2(CCDC39):c.931-1G>T SNV
Germline
Chr3:180652267 Pathogenic Primary ciliary dyskinesia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA355299664 rs_1711503031

2 SubmittersRCV003537679RCV004775424

NM_181426.2(CCDC39):c.1705A>T (p.Lys569Ter) SNV
Germline
Chr3:180642162 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355309181 rs_2473804152

1 SubmittersRCV003537547

NM_181426.2(CCDC39):c.1006A>T (p.Lys336Ter) SNV
Germline
Chr3:180652191 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355299313 rs_2473814484

1 SubmittersRCV003539312

NM_181426.2(CCDC39):c.706A>T (p.Lys236Ter) SNV
Germline
Chr3:180659484 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355301980 rs_1210959281

1 SubmittersRCV003537968

NM_181426.2(CCDC39):c.1411G>T (p.Glu471Ter) SNV
Germline
Chr3:180647195 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355310294 rs_2473808850

1 SubmittersRCV003535153

NM_181426.2(CCDC39):c.95C>G (p.Ser32Ter) SNV
Germline
Chr3:180663982 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355304543 rs_992409739

1 SubmittersRCV003536578

NM_181426.2(CCDC39):c.1636G>T (p.Glu546Ter) SNV
Germline
Chr3:180644149 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355309434 rs_2473806198

1 SubmittersRCV003535217

NM_181426.2(CCDC39):c.2387T>G (p.Leu796Ter) SNV
Germline
Chr3:180616845 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355305539 rs_377454931

1 SubmittersRCV003536779

NM_181426.2(CCDC39):c.112A>T (p.Arg38Ter) SNV
Germline
Chr3:180663965 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355304467 rs_1481266590

1 SubmittersRCV003536623

NM_181426.2(CCDC39):c.1693A>T (p.Lys565Ter) SNV
Germline
Chr3:180642174 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355309207 rs_2473804165

1 SubmittersRCV003537023

NM_181426.2(CCDC39):c.1999-1G>C SNV
Germline
Chr3:180619971 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355307455 rs_2473782922

1 SubmittersRCV003538158

NM_181426.2(CCDC39):c.1345G>T (p.Glu449Ter) SNV
Germline
Chr3:180648182 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355310509 rs_1472519086

1 SubmittersRCV003538089

NM_181426.2(CCDC39):c.1528-2A>G SNV
Germline
Chr3:180644259 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355309847 rs_1432128768

1 SubmittersRCV003648079

NM_181426.2(CCDC39):c.930+1G>A SNV
Germline
Chr3:180654761 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355300225 rs_1711543098

1 SubmittersRCV003647352

NM_181426.2(CCDC39):c.1384G>T (p.Glu462Ter) SNV
Germline
Chr3:180647222 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355310351 rs_2473808878

1 SubmittersRCV003652435

NM_181426.2(CCDC39):c.1603G>T (p.Glu535Ter) SNV
Germline
Chr3:180644182 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355309551 rs_1718020912

1 SubmittersRCV003652632

NM_181426.2(CCDC39):c.1875-1G>C SNV
Germline
Chr3:180631593 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355307980 rs_1300257600

1 SubmittersRCV003649856

NM_181426.2(CCDC39):c.1528-2A>T SNV
Germline
Chr3:180644259 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355309846 rs_1432128768

1 SubmittersRCV003650145

NM_181426.2(CCDC39):c.1228C>T (p.Gln410Ter) SNV
Germline
Chr3:180648299 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA88644763 rs_897771164

1 SubmittersRCV003651744

NM_181426.2(CCDC39):c.2266-1G>A SNV
Germline
Chr3:180616967 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355305821 rs_2473778214

1 SubmittersRCV003652956

NM_181426.2(CCDC39):c.1167+1G>A SNV
Germline
Chr3:180651400 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355298517 rs_1292030955

1 SubmittersRCV003842883

NM_181426.2(CCDC39):c.1034+1G>A SNV
Germline
Chr3:180652162 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter
CA355299227 rs_1280721587

1 SubmittersRCV003863122

NM_181426.2(CCDC39):c.676C>T (p.Gln226Ter) SNV
Germline
Chr3:180659514 Likely pathogenic Primary ciliary dyskinesia 14 Criteria Provided
Single Submitter
CA355302135 rs_2473823658

1 SubmittersRCV003991694

NM_181426.2(CCDC39):c.550G>T (p.Glu184Ter) SNV
Germline
Chr3:180659736 Likely pathogenic Primary ciliary dyskinesia 14 Criteria Provided
Single Submitter

1 SubmittersRCV004797311

NM_181426.2(CCDC39):c.2266-2A>T SNV
Germline
Chr3:180616968 Likely pathogenic Primary ciliary dyskinesia 14 Criteria Provided
Single Submitter

1 SubmittersRCV005024531

NM_181426.2(CCDC39):c.2158+1G>A SNV
Germline
Chr3:180619810 Likely pathogenic Primary ciliary dyskinesia 14 Criteria Provided
Single Submitter

1 SubmittersRCV005024532

NM_181426.2(CCDC39):c.1855C>T (p.Gln619Ter) SNV
Germline
Chr3:180642012 Likely pathogenic Primary ciliary dyskinesia 14 Criteria Provided
Single Submitter

1 SubmittersRCV005024533

NM_181426.2(CCDC39):c.1714C>T (p.Arg572Ter) SNV
Germline
Chr3:180642153 Pathogenic Primary ciliary dyskinesia 14 Criteria Provided
Single Submitter

1 SubmittersRCV005035190

NM_181426.2(CCDC39):c.1362+1G>A SNV
Germline
Chr3:180648164 Likely pathogenic Primary ciliary dyskinesia 14
Primary ciliary dyskinesia
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005024536RCV005112820

NM_181426.2(CCDC39):c.799A>T (p.Lys267Ter) SNV
Germline
Chr3:180654893 Likely pathogenic Primary ciliary dyskinesia 14 Criteria Provided
Single Submitter

1 SubmittersRCV005035192

NM_181426.2(CCDC39):c.496C>T (p.Gln166Ter) SNV
Germline
Chr3:180660590 Likely pathogenic Primary ciliary dyskinesia 14 Criteria Provided
Single Submitter

1 SubmittersRCV005035193

NM_181426.2(CCDC39):c.10G>T (p.Glu4Ter) SNV
Germline
Chr3:180679371 Likely pathogenic Primary ciliary dyskinesia 14 Criteria Provided
Single Submitter

1 SubmittersRCV005024540

NM_181426.2(CCDC39):c.892C>T (p.Gln298Ter) SNV
Germline
Chr3:180654800 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter

1 SubmittersRCV005131133

NM_181426.2(CCDC39):c.151C>T (p.Arg51Ter) SNV
Germline
Chr3:180663926 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter

1 SubmittersRCV005200840

NM_181426.2(CCDC39):c.1810A>T (p.Lys604Ter) SNV
Germline
Chr3:180642057 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter

1 SubmittersRCV005196864

NM_181426.2(CCDC39):c.1246G>T (p.Glu416Ter) SNV
Germline
Chr3:180648281 Pathogenic Primary ciliary dyskinesia 14 Criteria Provided
Single Submitter

1 SubmittersRCV005238286

NM_181426.2(CCDC39):c.2404C>T (p.Gln802Ter) SNV
Germline
Chr3:180616828 Likely pathogenic Primary ciliary dyskinesia 14 Criteria Provided
Single Submitter

1 SubmittersRCV005407478