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	13 SubmittersRCV000024061 RCV000199155 RCV001092443 RCV001327942 RCV003914861
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 SubmittersRCV000250032 RCV000827145 RCV001082090 RCV001145787
NM_181426.2(CCDC39):c.2534T>C (p.Ile845Thr)	SNV Germline	Chr3:180616568	Conflicting classifications of pathogenicity	not specified Condition: not provided Primary ciliary dyskinesia Primary ciliary dyskinesia 14	Criteria Provided Conflicting Classifications	CA241122	rs_139560004	5 SubmittersRCV000250356 RCV000724053 RCV001087266 RCV001145561
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 SubmittersRCV000246088 RCV000724057 RCV002515301
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 SubmittersRCV000200347 RCV001781580
NM_181426.2(CCDC39):c.2548A>G (p.Thr850Ala)	SNV Germline	Chr3:180616554	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 14 Condition: not provided	Criteria Provided Conflicting Classifications	CA349495	rs_201963508	5 SubmittersRCV000205337 RCV002485338 RCV003430762
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 SubmittersRCV000206081 RCV000244505 RCV001094885 RCV003430763
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 SubmittersRCV000205312 RCV000765714 RCV004791327
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 SubmittersRCV000219574 RCV000404918 RCV001853433
NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile)	SNV Germline	Chr3:180641993	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia CCDC39-related disorder Primary ciliary dyskinesia 14	Criteria Provided Conflicting Classifications	CA2715852	rs_769223754	5 SubmittersRCV000214679 RCV000233515 RCV003417772 RCV005025350
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 SubmittersRCV000229530 RCV001094925 RCV003884429 RCV004755824
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 SubmittersRCV000478638 RCV000677328 RCV000767051 RCV001086160 RCV003967673
NM_181426.2(CCDC39):c.2823A>G (p.Lys941=)	SNV Germline	Chr3:180614924	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia 14 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA2715586	rs_751844801	3 SubmittersRCV000242620 RCV001149887 RCV002518665
NM_181426.2(CCDC39):c.1896A>G (p.Leu632=)	SNV Germline	Chr3:180631571	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 14	Criteria Provided Conflicting Classifications	CA2715831	rs_79353057	4 SubmittersRCV000247466 RCV000294522 RCV001094924
NM_181426.2(CCDC39):c.1742A>G (p.Glu581Gly)	SNV Germline	Chr3:180642125	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA2715880	rs_768857374	2 SubmittersRCV000246976 RCV005647990
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA2716059	rs_201684898	5 SubmittersRCV000246808 RCV000370071 RCV001094894 RCV006270366
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 SubmittersRCV000242850 RCV004822026
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 SubmittersRCV000325833 RCV001094896
NM_181426.2(CCDC39):c.396G>A (p.Leu132=)	SNV Germline	Chr3:180660690	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia 14 Primary ciliary dyskinesia Condition: not provided	Criteria Provided Conflicting Classifications	CA2716180	rs_201923286	4 SubmittersRCV000335489 RCV002057870 RCV006731930
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	3 SubmittersRCV000407605 RCV002520109
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	3 SubmittersRCV000380806 RCV003114503
NM_181426.2(CCDC39):c.1198G>T (p.Gly400Cys)	SNV Germline	Chr3:180648329	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified Primary ciliary dyskinesia 14	Criteria Provided Conflicting Classifications	CA2715989	rs_147383873	4 SubmittersRCV000404264 RCV000601626 RCV001094814
NM_181426.2(CCDC39):c.880A>G (p.Arg294Gly)	SNV Germline	Chr3:180654812	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 14 Condition: not provided CCDC39-related disorder	Criteria Provided Conflicting Classifications	CA2716064	rs_61733577	5 SubmittersRCV000270726 RCV001094895 RCV002259338 RCV003972455
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 SubmittersRCV000330104 RCV001094888
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 SubmittersRCV000343218 RCV002057868
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 SubmittersRCV000281391 RCV001094765
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 SubmittersRCV000309224 RCV003650573
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 SubmittersRCV000291362 RCV001094926
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 SubmittersRCV000346262 RCV001094761
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 SubmittersRCV000368584 RCV002057869
NM_181426.2(CCDC39):c.1167+1261A>G	SNV Germline	Chr3:180650140	Pathogenic/Likely pathogenic	Primary ciliary dyskinesia Primary ciliary dyskinesia 14 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16611181	rs_577069249	6 SubmittersRCV000477112 RCV004525933 RCV003322774
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 SubmittersRCV000479757 RCV001078460 RCV005090933
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 SubmittersRCV000537244 RCV001145559
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 SubmittersRCV000534994 RCV000729528
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	6 SubmittersRCV000552448 RCV000754965 RCV001289545 RCV002223222
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	3 SubmittersRCV000551213 RCV001150115
NM_181426.2(CCDC39):c.1612C>G (p.Leu538Val)	SNV Germline	Chr3:180644173	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA2715912	rs_377319302	3 SubmittersRCV000629450
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 SubmittersRCV000629636 RCV003640930
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 Primary ciliary dyskinesia 14 CCDC39-related disorder	Criteria Provided Conflicting Classifications	CA2715667	rs_201601768	4 SubmittersRCV000629523 RCV001145677 RCV003945579
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.350A>G (p.Asp117Gly)	SNV Germline	Chr3:180661868	Likely pathogenic	Primary ciliary dyskinesia	Criteria Provided Single Submitter	CA355303841	rs_1560092712	2 SubmittersRCV000694111
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 SubmittersRCV000690434 RCV002485639
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 SubmittersRCV000697641 RCV005416036
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 Primary ciliary dyskinesia Primary ciliary dyskinesia 14 CCDC39-related disorder	Criteria Provided Conflicting Classifications	CA2715821	rs_145506099	5 SubmittersRCV000825717 RCV000861311 RCV001150006 RCV004756045
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 SubmittersRCV000861105 RCV001148549 RCV003918322
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 SubmittersRCV000864558 RCV001145785
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 SubmittersRCV001047685 RCV005029609
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 Primary ciliary dyskinesia 14 Condition: not provided	Criteria Provided Conflicting Classifications	CA2716280	rs_758493174	4 SubmittersRCV001036193 RCV002489541 RCV004768796
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 Malignant tumor of esophagus Gastric cancer	Criteria Provided Conflicting Classifications	CA2715646	rs_201996796	4 SubmittersRCV001145560 RCV002451340 RCV005913880 RCV005913881
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 SubmittersRCV001145676 RCV003537481
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	4 SubmittersRCV001145786 RCV002559408 RCV003973104
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 SubmittersRCV001145679 RCV003537482
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 SubmittersRCV001148437 RCV002070799 RCV003918732 RCV005437005
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 SubmittersRCV001209717 RCV003151837
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 SubmittersRCV001327216 RCV003640962
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 SubmittersRCV001380089 RCV002499789
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 SubmittersRCV001780458 RCV002541113
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 SubmittersRCV001849601 RCV005253901
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 SubmittersRCV002033961 RCV002486768
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.670A>G (p.Ile224Val)	SNV Germline	Chr3:180659520	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 14	Criteria Provided Conflicting Classifications	CA2716107	rs_544311014	3 SubmittersRCV001935249 RCV005023423
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 SubmittersRCV002594438 RCV003152801
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.749G>A (p.Arg250Lys)	SNV Germline	Chr3:180654943	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia 14 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA2716084	rs_545754427	2 SubmittersRCV003144696 RCV006411815
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	Likely pathogenic	Primary ciliary dyskinesia 14	Criteria Provided Single Submitter	CA355299423	rs_1338737312	2 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 SubmittersRCV003340982 RCV003535013
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 SubmittersRCV003537679 RCV004775424
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 SubmittersRCV005024536 RCV005112820
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
NM_181426.2(CCDC39):c.1837C>T (p.Gln613Ter)	SNV Germline	Chr3:180642030	Pathogenic	Primary ciliary dyskinesia	Criteria Provided Single Submitter			1 SubmittersRCV006589437

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

13 SubmittersRCV000024061 RCV000199155 RCV001092443 RCV001327942 RCV003914861

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 SubmittersRCV000250032 RCV000827145 RCV001082090 RCV001145787

NM_181426.2(CCDC39):c.2534T>C (p.Ile845Thr)

SNV
Germline

Chr3:180616568

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 14

Criteria Provided
Conflicting Classifications

CA241122

rs_139560004

5 SubmittersRCV000250356 RCV000724053 RCV001087266 RCV001145561

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 SubmittersRCV000246088 RCV000724057 RCV002515301

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 SubmittersRCV000200347 RCV001781580

NM_181426.2(CCDC39):c.2548A>G (p.Thr850Ala)

SNV
Germline

Chr3:180616554

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 14
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349495

rs_201963508

5 SubmittersRCV000205337 RCV002485338 RCV003430762

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 SubmittersRCV000206081 RCV000244505 RCV001094885 RCV003430763

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 SubmittersRCV000205312 RCV000765714 RCV004791327

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 SubmittersRCV000219574 RCV000404918 RCV001853433

NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile)

SNV
Germline

Chr3:180641993

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
CCDC39-related disorder
Primary ciliary dyskinesia 14

Criteria Provided
Conflicting Classifications

CA2715852

rs_769223754

5 SubmittersRCV000214679 RCV000233515 RCV003417772 RCV005025350

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 SubmittersRCV000229530 RCV001094925 RCV003884429 RCV004755824

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 SubmittersRCV000478638 RCV000677328 RCV000767051 RCV001086160 RCV003967673

NM_181426.2(CCDC39):c.2823A>G (p.Lys941=)

SNV
Germline

Chr3:180614924

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia 14
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA2715586

rs_751844801

3 SubmittersRCV000242620 RCV001149887 RCV002518665

NM_181426.2(CCDC39):c.1896A>G (p.Leu632=)

SNV
Germline

Chr3:180631571

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 14

Criteria Provided
Conflicting Classifications

CA2715831

rs_79353057

4 SubmittersRCV000247466 RCV000294522 RCV001094924

NM_181426.2(CCDC39):c.1742A>G (p.Glu581Gly)

SNV
Germline

Chr3:180642125

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2715880

rs_768857374

2 SubmittersRCV000246976 RCV005647990

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2716059

rs_201684898

5 SubmittersRCV000246808 RCV000370071 RCV001094894 RCV006270366

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 SubmittersRCV000242850 RCV004822026

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 SubmittersRCV000325833 RCV001094896

NM_181426.2(CCDC39):c.396G>A (p.Leu132=)

SNV
Germline

Chr3:180660690

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 14
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2716180

rs_201923286

4 SubmittersRCV000335489 RCV002057870 RCV006731930

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

3 SubmittersRCV000407605 RCV002520109

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

3 SubmittersRCV000380806 RCV003114503

NM_181426.2(CCDC39):c.1198G>T (p.Gly400Cys)

SNV
Germline

Chr3:180648329

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Primary ciliary dyskinesia 14

Criteria Provided
Conflicting Classifications

CA2715989

rs_147383873

4 SubmittersRCV000404264 RCV000601626 RCV001094814

NM_181426.2(CCDC39):c.880A>G (p.Arg294Gly)

SNV
Germline

Chr3:180654812

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 14
Condition: not provided
CCDC39-related disorder

Criteria Provided
Conflicting Classifications

CA2716064

rs_61733577

5 SubmittersRCV000270726 RCV001094895 RCV002259338 RCV003972455

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 SubmittersRCV000330104 RCV001094888

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 SubmittersRCV000343218 RCV002057868

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 SubmittersRCV000281391 RCV001094765

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 SubmittersRCV000309224 RCV003650573

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 SubmittersRCV000291362 RCV001094926

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 SubmittersRCV000346262 RCV001094761

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 SubmittersRCV000368584 RCV002057869

NM_181426.2(CCDC39):c.1167+1261A>G

SNV
Germline

Chr3:180650140

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 14
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16611181

rs_577069249

6 SubmittersRCV000477112 RCV004525933 RCV003322774

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 SubmittersRCV000479757 RCV001078460 RCV005090933

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 SubmittersRCV000537244 RCV001145559

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 SubmittersRCV000534994 RCV000729528

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

6 SubmittersRCV000552448 RCV000754965 RCV001289545 RCV002223222

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

3 SubmittersRCV000551213 RCV001150115

NM_181426.2(CCDC39):c.1612C>G (p.Leu538Val)

SNV
Germline

Chr3:180644173

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA2715912

rs_377319302

3 SubmittersRCV000629450

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 SubmittersRCV000629636 RCV003640930

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
Primary ciliary dyskinesia 14
CCDC39-related disorder

Criteria Provided
Conflicting Classifications

CA2715667

rs_201601768

4 SubmittersRCV000629523 RCV001145677 RCV003945579

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.350A>G (p.Asp117Gly)

SNV
Germline

Chr3:180661868

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA355303841

rs_1560092712

2 SubmittersRCV000694111

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 SubmittersRCV000690434 RCV002485639

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 SubmittersRCV000697641 RCV005416036

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
Primary ciliary dyskinesia
Primary ciliary dyskinesia 14
CCDC39-related disorder

Criteria Provided
Conflicting Classifications

CA2715821

rs_145506099

5 SubmittersRCV000825717 RCV000861311 RCV001150006 RCV004756045

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 SubmittersRCV000861105 RCV001148549 RCV003918322

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 SubmittersRCV000864558 RCV001145785

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 SubmittersRCV001047685 RCV005029609

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
Primary ciliary dyskinesia 14
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2716280

rs_758493174

4 SubmittersRCV001036193 RCV002489541 RCV004768796

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
Malignant tumor of esophagus
Gastric cancer

Criteria Provided
Conflicting Classifications

CA2715646

rs_201996796

4 SubmittersRCV001145560 RCV002451340 RCV005913880 RCV005913881

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 SubmittersRCV001145676 RCV003537481

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

4 SubmittersRCV001145786 RCV002559408 RCV003973104

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 SubmittersRCV001145679 RCV003537482

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 SubmittersRCV001148437 RCV002070799 RCV003918732 RCV005437005

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 SubmittersRCV001209717 RCV003151837

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 SubmittersRCV001327216 RCV003640962

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 SubmittersRCV001380089 RCV002499789

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 SubmittersRCV001780458 RCV002541113

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 SubmittersRCV001849601 RCV005253901

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 SubmittersRCV002033961 RCV002486768

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.670A>G (p.Ile224Val)

SNV
Germline

Chr3:180659520

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 14

Criteria Provided
Conflicting Classifications

CA2716107

rs_544311014

3 SubmittersRCV001935249 RCV005023423

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 SubmittersRCV002594438 RCV003152801

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.749G>A (p.Arg250Lys)

SNV
Germline

Chr3:180654943

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 14
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA2716084

rs_545754427

2 SubmittersRCV003144696 RCV006411815

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

Likely pathogenic

Primary ciliary dyskinesia 14

Criteria Provided
Single Submitter

CA355299423

rs_1338737312

2 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 SubmittersRCV003340982 RCV003535013

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 SubmittersRCV003537679 RCV004775424

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 SubmittersRCV005024536 RCV005112820

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

NM_181426.2(CCDC39):c.1837C>T (p.Gln613Ter)

SNV
Germline

Chr3:180642030

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV006589437