Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_178452.6(DNAAF1):c.811C>T (p.Arg271Ter)	SNV Germline	Chr16:84159744	Pathogenic	Primary ciliary dyskinesia 13 Primary ciliary dyskinesia	Criteria Provided Single Submitter	CA339807	rs_267607225	3 SubmittersRCV000000288 RCV000556400
NM_178452.6(DNAAF1):c.792C>A (p.Tyr264Ter)	SNV Germline	Chr16:84159725	Pathogenic	Primary ciliary dyskinesia 13 Primary ciliary dyskinesia	Criteria Provided Multiple Submitters No Conflicts	CA251402	rs_267607226	4 SubmittersRCV000000289 RCV001063639
NM_178452.6(DNAAF1):c.524T>G (p.Leu175Arg)	SNV Germline	Chr16:84154748	Pathogenic	Primary ciliary dyskinesia 13 Kartagener syndrome	No Assertion Criteria Provided	CA339809	rs_267607227	2 SubmittersRCV000000291 RCV000190914
NM_001010892.3(RSPH4A):c.460C>T (p.Gln154Ter)	SNV Germline	Chr6:116617083	Pathogenic	Primary ciliary dyskinesia 11 Primary ciliary dyskinesia Respiratory ciliopathies including non-CF bronchiectasis	Criteria Provided Multiple Submitters No Conflicts	CA339817	rs_118204041	4 SubmittersRCV000000532 RCV000226196 RCV005252651
NM_001010892.3(RSPH4A):c.325C>T (p.Gln109Ter)	SNV Germline	Chr6:116616948	Pathogenic	Primary ciliary dyskinesia 11 Primary ciliary dyskinesia	Criteria Provided Single Submitter	CA339819	rs_118204042	3 SubmittersRCV000000533 RCV000473371
NM_001010892.3(RSPH4A):c.1468C>T (p.Arg490Ter)	SNV Germline	Chr6:116628175	Pathogenic/Likely pathogenic	Primary ciliary dyskinesia 11 Primary ciliary dyskinesia	Criteria Provided Multiple Submitters No Conflicts	CA339821	rs_118204043	4 SubmittersRCV000000534 RCV000525090
NM_018139.3(DNAAF2):c.23C>A (p.Ser8Ter)	SNV Germline	Chr14:49635127	Pathogenic	Primary ciliary dyskinesia 10 Kartagener syndrome	No Assertion Criteria Provided	CA251489	rs_137853191	2 SubmittersRCV000000559 RCV000190866
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)	SNV Germline	Chr19:12897824	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1 Condition: not provided Abnormality of metabolism/homeostasis Primary ciliary dyskinesia 29 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA252097	rs_121434369	24 SubmittersRCV000002166 RCV000255833 RCV001813936 RCV003447469 RCV002512670
NM_023036.6(DNAI2):c.1494+1G>A	SNV Germline	Chr17:74310164	Pathogenic	Primary ciliary dyskinesia 9 Primary ciliary dyskinesia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA293863657	rs_397515565	5 SubmittersRCV000005241 RCV001383568 RCV004719624
NM_023036.6(DNAI2):c.346-3T>G	SNV Germline	Chr17:74286974	Pathogenic	Primary ciliary dyskinesia 9 Primary ciliary dyskinesia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253357	rs_397515358	3 SubmittersRCV000005242 RCV001385859 RCV004719625
NM_023036.6(DNAI2):c.787C>T (p.Arg263Ter)	SNV Germline	Chr17:74299780	Pathogenic	Primary ciliary dyskinesia 9 Primary ciliary dyskinesia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA340319	rs_137852998	5 SubmittersRCV000005243 RCV000810716 RCV004719626
NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser)	SNV Germline	Chr9:34513165	Pathogenic/Likely pathogenic	Kartagener syndrome Primary ciliary dyskinesia DNAI1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA253533	rs_79833450	7 SubmittersRCV000005956 RCV000468431 RCV003407285
NM_001277115.2(DNAH11):c.8533C>T (p.Arg2845Ter)	SNV Germline	Chr7:21748602	Pathogenic	Primary ciliary dyskinesia 7 CILIARY DYSKINESIA, PRIMARY, 7, WITH SITUS INVERSUS	Criteria Provided Single Submitter	CA340592	rs_121908854	3 SubmittersRCV000006847 RCV000590992
NM_001277115.2(DNAH11):c.12363C>G (p.Tyr4121Ter)	SNV Germline	Chr7:21880869	Pathogenic	Primary ciliary dyskinesia 7 Primary ciliary dyskinesia	Criteria Provided Multiple Submitters No Conflicts	CA340594	rs_121908855	5 SubmittersRCV000006848 RCV002362568
NM_001369.3(DNAH5):c.10555G>C (p.Gly3519Arg)	SNV Germline	Chr5:13754203	Likely pathogenic	Primary ciliary dyskinesia 3 Primary ciliary dyskinesia	Criteria Provided Single Submitter	CA253865	rs_79967166	2 SubmittersRCV000006851 RCV001851706
NM_001369.3(DNAH5):c.1828C>T (p.Gln610Ter)	SNV Germline	Chr5:13901476	Pathogenic	Primary ciliary dyskinesia 3 Primary ciliary dyskinesia	Criteria Provided Multiple Submitters No Conflicts	CA253866	rs_121908853	3 SubmittersRCV000006853 RCV001851707
NM_001034853.2(RPGR):c.823G>A (p.Gly275Ser)	SNV Germline	ChrX:38304746	Pathogenic	Retinitis pigmentosa 3 Condition: not provided Retinitis pigmentosa Primary ciliary dyskinesia RPGR-related retinopathy	Reviewed By Expert Panel	CA226447	rs_62642057	5 SubmittersRCV000010577 RCV000085125 RCV001003203 RCV002512961 RCV005415397
NM_001034853.2(RPGR):c.179G>T (p.Gly60Val)	SNV Germline	ChrX:38322921	Likely pathogenic	Retinitis pigmentosa 3 Condition: not provided Primary ciliary dyskinesia Retinal dystrophy RPGR-related disorder RPGR-related retinopathy	Reviewed By Expert Panel	CA226376	rs_62638634	8 SubmittersRCV000010580 RCV000085072 RCV000822760 RCV001074755 RCV004755727 RCV005415398
NM_001034853.2(RPGR):c.2650G>T (p.Glu884Ter)	SNV Germline	ChrX:38286349	Pathogenic	Retinitis pigmentosa 3 Condition: not provided Primary ciliary dyskinesia	Criteria Provided Multiple Submitters No Conflicts	CA254931	rs_137852549	3 SubmittersRCV000010586 RCV002464059 RCV003534308
NM_031427.4(DNAL1):c.449A>G (p.Asn150Ser)	SNV Germline	Chr14:73689432	Pathogenic	Primary ciliary dyskinesia 16 Kartagener syndrome	No Assertion Criteria Provided	CA342751	rs_387907021	2 SubmittersRCV000023801 RCV000190934
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 SubmittersRCV000024061 RCV000199155 RCV001092443 RCV001327942 RCV003914861
NM_017950.4(CCDC40):c.1951C>T (p.Gln651Ter)	SNV Germline	Chr17:80082020	Pathogenic	Primary ciliary dyskinesia 15 Primary ciliary dyskinesia	Criteria Provided Single Submitter	CA259987	rs_387907092	2 SubmittersRCV000024065 RCV000629328
NM_017950.4(CCDC40):c.1345C>T (p.Arg449Ter)	SNV Germline	Chr17:80058885	Pathogenic	Primary ciliary dyskinesia 15 Primary ciliary dyskinesia	Criteria Provided Multiple Submitters No Conflicts	CA259989	rs_387907093	4 SubmittersRCV000024066 RCV001065148
NM_001256715.2(DNAAF3):c.182T>C (p.Leu61Pro)	SNV Germline	Chr19:55165904	Pathogenic	Primary ciliary dyskinesia 2	Criteria Provided Single Submitter	CA025062	rs_387907151	2 SubmittersRCV000024243
NM_001256715.2(DNAAF3):c.265C>T (p.Arg89Ter)	SNV Germline	Chr19:55165427	Pathogenic	Primary ciliary dyskinesia 2 Primary ciliary dyskinesia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA025069	rs_387907152	5 SubmittersRCV000024244 RCV000629507 RCV004719662
NM_001277115.2(DNAH11):c.8698C>T (p.Arg2900Ter)	SNV Germline	Chr7:21749702	Pathogenic	Primary ciliary dyskinesia 7 Primary ciliary dyskinesia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA260569	rs_368260932	7 SubmittersRCV000030676 RCV000230314 RCV002291548
NM_001364171.2(ODAD1):c.853G>A (p.Ala285Thr)	SNV Germline	Chr19:48303953	Pathogenic	Primary ciliary dyskinesia 20 Kartagener syndrome Primary ciliary dyskinesia Condition: not provided ODAD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA130413	rs_147718607	14 SubmittersRCV000032837 RCV000190918 RCV000231978 RCV001579702 RCV004754279
NM_001364171.2(ODAD1):c.597+1G>A	SNV Germline	Chr19:48311552	Pathogenic/Likely pathogenic	Primary ciliary dyskinesia 20 Primary ciliary dyskinesia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA130416	rs_606231238	5 SubmittersRCV000032838 RCV001387740 RCV004719668
NM_001364171.2(ODAD1):c.598-2A>G	SNV Germline	Chr19:48306325	Pathogenic	Primary ciliary dyskinesia 20 Primary ciliary dyskinesia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA130417	rs_606231239	3 SubmittersRCV000032839 RCV001213308 RCV001093250
NM_001364171.2(ODAD1):c.1502+5G>A	SNV Germline	Chr19:48297995	Pathogenic/Likely pathogenic	Primary ciliary dyskinesia 20 Primary ciliary dyskinesia Condition: not provided ODAD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA130418	rs_201133219	6 SubmittersRCV000032840 RCV000629509 RCV001093249 RCV004754280
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr)	SNV Germline	Chr5:13916424	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia 3 Primary ciliary dyskinesia Condition: not provided	Criteria Provided Conflicting Classifications	CA261198	rs_147499872	12 SubmittersRCV000032855 RCV000228082 RCV000523858
NM_001369.3(DNAH5):c.3139G>A (p.Gly1047Arg)	SNV Germline	Chr5:13882939	Pathogenic	Primary ciliary dyskinesia 3	No Assertion Criteria Provided	CA3204385	rs_751785066	1 SubmittersRCV000032856
NM_017802.4(DNAAF5):c.2384T>C (p.Leu795Pro)	SNV Germline	Chr7:780097	Pathogenic/Likely pathogenic	Primary ciliary dyskinesia 18 Primary ciliary dyskinesia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA343807	rs_397514561	4 SubmittersRCV000032886 RCV000629303 RCV002273938
NM_001270974.2(HYDIN):c.3985G>T (p.Val1329Leu)	SNV Germline	Chr16:70988133	Pathogenic	Primary ciliary dyskinesia 5	No Assertion Criteria Provided	CA261200	rs_397515413	1 SubmittersRCV000032900
NM_001270974.2(HYDIN):c.922A>T (p.Lys308Ter)	SNV Germline	Chr16:71137272	Pathogenic	Primary ciliary dyskinesia 5	No Assertion Criteria Provided	CA261202	rs_397515414	1 SubmittersRCV000032901
NM_012472.6(DNAAF11):c.574C>T (p.Gln192Ter)	SNV Germline	Chr8:132632819	Pathogenic	Primary ciliary dyskinesia 19	Criteria Provided Single Submitter	CA343815	rs_141945265	3 SubmittersRCV000033017
NM_012472.6(DNAAF11):c.436G>C (p.Asp146His)	SNV Germline	Chr8:132632957	Pathogenic/Likely pathogenic	Primary ciliary dyskinesia 19 Heterotaxy Primary ciliary dyskinesia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA343819	rs_200321595	10 SubmittersRCV000033020 RCV001731475 RCV002460894 RCV004696644
NM_145038.5(DRC1):c.2056A>T (p.Lys686Ter)	SNV Germline	Chr2:26454783	Pathogenic	Primary ciliary dyskinesia 21	No Assertion Criteria Provided	CA214694	rs_587776997	1 SubmittersRCV000049260
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter)	SNV Germline	Chr2:26421396	Pathogenic/Likely pathogenic	Primary ciliary dyskinesia 21 Primary ciliary dyskinesia Condition: not provided not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 21 DRC1-related disorder Spermatogenic failure 80	Criteria Provided Multiple Submitters No Conflicts	CA214697	rs_142371860	10 SubmittersRCV000049261 RCV000549203 RCV000725468 RCV000825030 RCV002254519 RCV004752736 RCV005394285
NM_001270974.2(HYDIN):c.3786-1G>T	SNV Germline	Chr16:70991397	Pathogenic	Primary ciliary dyskinesia 5	No Assertion Criteria Provided	CA264787	rs_373501414	1 SubmittersRCV000055663
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr)	SNV Germline	Chr5:13902053	Pathogenic/Likely pathogenic	Primary ciliary dyskinesia 3 Primary ciliary dyskinesia Condition: not provided Respiratory ciliopathies including non-CF bronchiectasis	Criteria Provided Multiple Submitters No Conflicts	CA344956	rs_397515541	8 SubmittersRCV000055850 RCV000629262 RCV004700356 RCV005430957
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp)	SNV Germline	Chr9:34513112	Pathogenic/Likely pathogenic	Kartagener syndrome Primary ciliary dyskinesia DNAI1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA345040	rs_376252276	6 SubmittersRCV000055932 RCV000536539 RCV003390758
NM_012144.4(DNAI1):c.2001+1G>A	SNV Germline	Chr9:34517468	Pathogenic/Likely pathogenic	Kartagener syndrome Primary ciliary dyskinesia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA345043	rs_397515563	3 SubmittersRCV000055933 RCV000698002 RCV000592856
NM_015896.4(ZMYND10):c.47T>G (p.Val16Gly)	SNV Germline	Chr3:50345533	Pathogenic	Primary ciliary dyskinesia 22 Kartagener syndrome Primary ciliary dyskinesia Condition: not provided ZMYND10-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA214439	rs_138815960	11 SubmittersRCV000056264 RCV000190919 RCV000459281 RCV001090588 RCV004754290
NM_015896.4(ZMYND10):c.967C>T (p.Gln323Ter)	SNV Germline	Chr3:50342047	Pathogenic	Primary ciliary dyskinesia 22 Primary ciliary dyskinesia	Criteria Provided Single Submitter	CA214442	rs_397515460	2 SubmittersRCV000056267 RCV005089464
NM_015896.4(ZMYND10):c.797T>C (p.Leu266Pro)	SNV Germline	Chr3:50342473	Pathogenic	Primary ciliary dyskinesia 22 Primary ciliary dyskinesia	Criteria Provided Single Submitter	CA214445	rs_200913791	2 SubmittersRCV000056269 RCV000468778
NM_012472.6(DNAAF11):c.562C>T (p.Gln188Ter)	SNV Germline	Chr8:132632831	Pathogenic	Primary ciliary dyskinesia 19	Criteria Provided Single Submitter	CA144829	rs_397515461	2 SubmittersRCV000056271
NM_018076.5(ODAD2):c.2780T>G (p.Leu927Trp)	SNV Germline	Chr10:27862453	Pathogenic/Likely pathogenic	Primary ciliary dyskinesia 23 Kartagener syndrome	Criteria Provided Multiple Submitters No Conflicts	CA214765	rs_587777047	4 SubmittersRCV000056284 RCV000190922
NM_018076.5(ODAD2):c.2675C>A (p.Ser892Ter)	SNV Germline	Chr10:27862558	Pathogenic	Primary ciliary dyskinesia 23	Criteria Provided Multiple Submitters No Conflicts	CA214699	rs_587777049	3 SubmittersRCV000056286
NM_080860.4(RSPH1):c.85G>T (p.Glu29Ter)	SNV Germline	Chr21:42493049	Pathogenic	Primary ciliary dyskinesia 24 Kartagener syndrome Primary ciliary dyskinesia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA144906	rs_138320978	10 SubmittersRCV000057509 RCV000190923 RCV000543760 RCV004791256
NM_080860.4(RSPH1):c.366-3C>A	SNV Germline	Chr21:42485807	Pathogenic	Primary ciliary dyskinesia 24 Primary ciliary dyskinesia	Criteria Provided Single Submitter	CA144908	rs_587777058	2 SubmittersRCV000057510 RCV003534322
NM_080860.4(RSPH1):c.275-2A>C	SNV Germline	Chr21:42486463	Pathogenic	Primary ciliary dyskinesia 24 Kartagener syndrome Primary ciliary dyskinesia Condition: not provided RSPH1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA144911	rs_151107532	14 SubmittersRCV000057512 RCV000190924 RCV000467674 RCV000726589 RCV003974945
NM_152732.5(RSPH9):c.52C>T (p.Gln18Ter)	SNV Germline	Chr6:43645150	Pathogenic	Primary ciliary dyskinesia 12	No Assertion Criteria Provided	CA264807	rs_397515488	1 SubmittersRCV000057517
NM_130810.4(DNAAF4):c.808C>T (p.Arg270Ter)	SNV Germline	Chr15:55439557	Pathogenic/Likely pathogenic	Primary ciliary dyskinesia 25 Condition: not provided Primary ciliary dyskinesia 25 Dyslexia, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA145164	rs_397515621	4 SubmittersRCV000059318 RCV000726789 RCV002504978
NM_130810.4(DNAAF4):c.325G>T (p.Glu109Ter)	SNV Germline	Chr15:55491203	Pathogenic	Primary ciliary dyskinesia 25 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA145167	rs_397515622	3 SubmittersRCV000059319 RCV003233100
NM_001369.3(DNAH5):c.11322C>T (p.Ser3774=)	SNV Germline	Chr5:13737385	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia DNAH5-related disorder	Criteria Provided Conflicting Classifications	CA246964	rs_267600357	4 SubmittersRCV000179659 RCV001485650 RCV003905034
NM_001369.3(DNAH5):c.1612G>A (p.Glu538Lys)	SNV Germline	Chr5:13911418	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA3204801	rs_141651575	3 SubmittersRCV000689176
NM_001277115.2(DNAH11):c.7471C>T (p.Arg2491Cys)	SNV Germline	Chr7:21735670	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA4181242	rs_267601454	2 SubmittersRCV002971408
NM_003114.5(SPAG1):c.2T>G (p.Met1Arg)	SNV Germline	Chr8:100162282	Pathogenic	Primary ciliary dyskinesia 28	No Assertion Criteria Provided	CA145290	rs_397518458	1 SubmittersRCV000074363
NM_003114.5(SPAG1):c.2014C>T (p.Gln672Ter)	SNV Germline	Chr8:100233436	Pathogenic/Likely pathogenic	Autosomal dominant nocturnal frontal lobe epilepsy 5 Kartagener syndrome Primary ciliary dyskinesia 28 Primary ciliary dyskinesia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA145294	rs_201740530	9 SubmittersRCV000074366 RCV000190929 RCV000556639 RCV001255310 RCV002293416
NM_021254.4(CFAP298):c.292C>T (p.Arg98Ter)	SNV Germline	Chr21:32609853	Pathogenic/Likely pathogenic	Primary ciliary dyskinesia 26 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA021253	rs_143740376	3 SubmittersRCV000074372 RCV001382823
NM_001034853.2(RPGR):c.505G>T (p.Glu169Ter)	SNV Germline	ChrX:38317430	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Primary ciliary dyskinesia	Criteria Provided Multiple Submitters No Conflicts	CA220674	rs_369037463	3 SubmittersRCV000179289 RCV001074291 RCV002514384
NM_001277115.2(DNAH11):c.3853-5C>G	SNV Germline	Chr7:21615109	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia Primary ciliary dyskinesia 7 DNAH11-related disorder	Criteria Provided Conflicting Classifications	CA221634	rs_367628980	5 SubmittersRCV000079618 RCV000393988 RCV002466423 RCV004537328
NM_003611.3(OFD1):c.54A>G (p.Glu18=)	SNV Germline	ChrX:13735289	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome Orofaciodigital syndrome I Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA222228	rs_147114577	6 SubmittersRCV000251169 RCV000723696 RCV001518323 RCV004019554
NM_001034853.2(RPGR):c.1120G>T (p.Glu374Ter)	SNV Germline	ChrX:38299081	Pathogenic	Condition: not provided Retinal dystrophy Primary ciliary dyskinesia RPGR-related retinopathy	Reviewed By Expert Panel	CA226344	rs_62635001	6 SubmittersRCV000085043 RCV001075424 RCV002514519 RCV005623295
NM_001034853.2(RPGR):c.1245+3A>G	SNV Germline	ChrX:38298953	Pathogenic	Retinitis pigmentosa 3 Condition: not provided Retinal dystrophy Primary ciliary dyskinesia RPGR-related retinopathy	Reviewed By Expert Panel	CA226348	rs_62635002	5 SubmittersRCV000010579 RCV000085047 RCV001073791 RCV002514520 RCV005415406
NM_001034853.2(RPGR):c.154G>T (p.Gly52Ter)	SNV Germline	ChrX:38323399	Pathogenic	Condition: not provided Primary ciliary dyskinesia	Criteria Provided Single Submitter	CA226368	rs_281865296	2 SubmittersRCV000085062 RCV002513914
NM_001034853.2(RPGR):c.1573-1G>A	SNV Germline	ChrX:38288042	Pathogenic	Condition: not provided Primary ciliary dyskinesia	Criteria Provided Single Submitter	CA226370	rs_62635010	2 SubmittersRCV000085064 RCV002513915
NM_001034853.2(RPGR):c.1573-2A>G	SNV Germline	ChrX:38288043	Pathogenic	Condition: not provided X-linked cone-rod dystrophy 1 Primary ciliary dyskinesia Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226371	rs_62635009	5 SubmittersRCV000085065 RCV002290961 RCV002513916 RCV004815043
NM_001034853.2(RPGR):c.1573-8A>G	SNV Germline	ChrX:38288049	Likely pathogenic	Condition: not provided Primary ciliary dyskinesia	Criteria Provided Single Submitter	CA226372	rs_62635011	2 SubmittersRCV000085066 RCV002513917
NM_001034853.2(RPGR):c.1747G>T (p.Glu583Ter)	SNV Germline	ChrX:38287867	Pathogenic	Condition: not provided Primary ciliary dyskinesia	Criteria Provided Single Submitter	CA226374	rs_62635013	2 SubmittersRCV000085071 RCV003534331
NM_001034853.2(RPGR):c.28+1G>A	SNV Germline	ChrX:38327339	Pathogenic	Condition: not provided Retinal dystrophy Primary ciliary dyskinesia	Criteria Provided Multiple Submitters No Conflicts	CA226400	rs_62638627	4 SubmittersRCV000085090 RCV001075528 RCV001857419
NM_001034853.2(RPGR):c.28+5G>A	SNV Germline	ChrX:38327335	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Primary ciliary dyskinesia	Criteria Provided Multiple Submitters No Conflicts	CA226401	rs_62638626	3 SubmittersRCV000085091 RCV001074095 RCV002513918
NM_001034853.2(RPGR):c.310+1G>C	SNV Germline	ChrX:38321026	Pathogenic	Condition: not provided Primary ciliary dyskinesia	Criteria Provided Single Submitter	CA226411	rs_62638639	2 SubmittersRCV000085099 RCV005089565
NM_001034853.2(RPGR):c.379A>G (p.Arg127Gly)	SNV Germline	ChrX:38318919	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA226416	rs_62638643	7 SubmittersRCV000085104 RCV001075065 RCV002514524
NM_001034853.2(RPGR):c.581G>A (p.Trp194Ter)	SNV Germline	ChrX:38317354	Pathogenic	Condition: not provided Primary ciliary dyskinesia	Criteria Provided Multiple Submitters No Conflicts	CA226427	rs_62650216	3 SubmittersRCV000085111 RCV001043143
NM_001034853.2(RPGR):c.706C>T (p.Gln236Ter)	SNV Germline	ChrX:38310687	Pathogenic	Condition: not provided Primary ciliary dyskinesia	Criteria Provided Multiple Submitters No Conflicts	CA226437	rs_62638652	4 SubmittersRCV000085117 RCV003534333
NM_001034853.2(RPGR):c.732G>A (p.Lys244=)	SNV Germline	ChrX:38310661	Conflicting classifications of pathogenicity	Condition: not provided not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA203398	rs_62638654	8 SubmittersRCV000085119 RCV000179749 RCV001083777
NM_001034853.2(RPGR):c.779-1G>A	SNV Germline	ChrX:38304791	Pathogenic	Condition: not provided Primary ciliary dyskinesia RPGR-related retinopathy	Reviewed By Expert Panel	CA226446	rs_62638655	4 SubmittersRCV000085124 RCV003534334 RCV005415408
NM_001034853.2(RPGR):c.905G>A (p.Cys302Tyr)	SNV Germline	ChrX:38304664	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia Retinal dystrophy	Criteria Provided Conflicting Classifications	CA226459	rs_62640590	4 SubmittersRCV000085133 RCV001854495 RCV003888465
NM_001034853.2(RPGR):c.934+1G>C	SNV Germline	ChrX:38304634	Pathogenic	Condition: not provided Primary ciliary dyskinesia	Criteria Provided Single Submitter	CA226464	rs_62640592	2 SubmittersRCV000085136 RCV002513920
NM_018076.5(ODAD2):c.1972G>T (p.Glu658Ter)	SNV Germline	Chr10:27940577	Pathogenic	Primary ciliary dyskinesia 23	Criteria Provided Single Submitter	CA214701	rs_587777199	2 SubmittersRCV000087327
NM_021147.5(CCNO):c.961C>T (p.Gln321Ter)	SNV Germline	Chr5:55231467	Likely pathogenic	Primary ciliary dyskinesia 29 Primary ciliary dyskinesia	Criteria Provided Single Submitter	CA163294	rs_587777501	2 SubmittersRCV000128543 RCV003534367
NM_001369.3(DNAH5):c.11570+124G>C	SNV Germline	Chr5:13735694	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia 3	No Assertion Criteria Provided	CA269992	rs_543104462	2 SubmittersRCV000128825
NM_080860.4(RSPH1):c.281G>A (p.Trp94Ter)	SNV Germline	Chr21:42486455	Pathogenic/Likely pathogenic	Primary ciliary dyskinesia 24 Primary ciliary dyskinesia RSPH1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA170575	rs_587777635	4 SubmittersRCV000133520 RCV000705021 RCV003398779
NM_145045.5(ODAD3):c.1256C>A (p.Ser419Ter)	SNV Germline	Chr19:11422722	Pathogenic	Primary ciliary dyskinesia 30 Kartagener syndrome	Criteria Provided Single Submitter	CA170853	rs_587777780	3 SubmittersRCV000144450 RCV000190933
NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu)	SNV Germline	Chr5:13700794	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 3	Criteria Provided Conflicting Classifications	CA175767	rs_151080414	9 SubmittersRCV000150462 RCV000372628 RCV001094952
NM_001369.3(DNAH5):c.8387A>G (p.Asp2796Gly)	SNV Germline	Chr5:13792055	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA175781	rs_727502974	3 SubmittersRCV000150471 RCV000469527
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys)	SNV Germline	Chr5:13871648	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA175797	rs_141168110	10 SubmittersRCV000150483 RCV000199834 RCV000667191 RCV002292476
NM_001369.3(DNAH5):c.1356G>A (p.Lys452=)	SNV Germline	Chr5:13913923	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 3	Criteria Provided Conflicting Classifications	CA182949	rs_144748846	6 SubmittersRCV000155517 RCV000470704 RCV001156731
NM_001369.3(DNAH5):c.624C>T (p.Asn208=)	SNV Germline	Chr5:13922143	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA182951	rs_139640247	9 SubmittersRCV000155518 RCV000204645 RCV001095091 RCV001553168
NM_001369.3(DNAH5):c.8642C>G (p.Ala2881Gly)	SNV Germline	Chr5:13788721	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Condition: not provided Primary ciliary dyskinesia 3 Respiratory ciliopathies including non-CF bronchiectasis	Criteria Provided Conflicting Classifications	CA175780	rs_727502973	6 SubmittersRCV000556876 RCV004783753 RCV005031658 RCV005431495
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro)	SNV Germline	Chr5:13810166	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia 3 Primary ciliary dyskinesia Condition: not provided	Criteria Provided Conflicting Classifications	CA184953	rs_78853309	9 SubmittersRCV000156495 RCV000778752 RCV000556129 RCV002510797
NM_001369.3(DNAH5):c.6731A>T (p.Lys2244Met)	SNV Germline	Chr5:13820456	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 3	Criteria Provided Conflicting Classifications	CA182931	rs_187023993	5 SubmittersRCV000155508 RCV000205957 RCV002498755
NM_001369.3(DNAH5):c.5485-11A>G	SNV Germline	Chr5:13841141	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA175792	rs_372860402	2 SubmittersRCV000150479 RCV002516023
NM_001277115.2(DNAH11):c.470G>A (p.Gly157Glu)	SNV Germline	Chr7:21545124	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Condition: not provided Primary ciliary dyskinesia 7	Criteria Provided Conflicting Classifications	CA175698	rs_185011953	5 SubmittersRCV000150424 RCV000862582 RCV002281964 RCV002227077
NM_001277115.2(DNAH11):c.939C>T (p.Ser313=)	SNV Germline	Chr7:21561127	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Condition: not provided Primary ciliary dyskinesia 7	Criteria Provided Conflicting Classifications	CA182885	rs_72655977	8 SubmittersRCV000155482 RCV000296338 RCV001310953 RCV005229991
NM_001277115.2(DNAH11):c.3853-12T>A	SNV Germline	Chr7:21615102	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA175717	rs_727502966	2 SubmittersRCV000150434 RCV002055961
NM_001277115.2(DNAH11):c.4879C>T (p.Arg1627Cys)	SNV Germline	Chr7:21639000	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 7	Criteria Provided Conflicting Classifications	CA175718	rs_727502967	7 SubmittersRCV000150435 RCV000556593 RCV001263479
NM_001277115.2(DNAH11):c.6437G>A (p.Arg2146His)	SNV Germline	Chr7:21704597	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA185731	rs_727505321	5 SubmittersRCV000156866 RCV001392556
NM_001277115.2(DNAH11):c.8798-5G>A	SNV Germline	Chr7:21750217	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA175737	rs_189821372	5 SubmittersRCV000150445 RCV000234300 RCV003615820 RCV003436958
NM_001277115.2(DNAH11):c.9097A>G (p.Ile3033Val)	SNV Germline	Chr7:21765584	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Condition: not provided Primary ciliary dyskinesia 7	Criteria Provided Conflicting Classifications	CA175741	rs_72657373	7 SubmittersRCV000150448 RCV000205997 RCV001705981 RCV003114294
NM_001277115.2(DNAH11):c.9935A>T (p.Asp3312Val)	SNV Germline	Chr7:21789251	Conflicting classifications of pathogenicity	not specified Condition: not provided Primary ciliary dyskinesia Primary ciliary dyskinesia 7	Criteria Provided Conflicting Classifications	CA175743	rs_72657389	7 SubmittersRCV000150449 RCV000767007 RCV001080094 RCV001164291
NM_001277115.2(DNAH11):c.10441G>A (p.Glu3481Lys)	SNV Germline	Chr7:21816575	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 7	Criteria Provided Conflicting Classifications	CA175747	rs_727502969	3 SubmittersRCV000150451 RCV000705884 RCV002051817
NM_001277115.2(DNAH11):c.12969G>C (p.Gln4323His)	SNV Germline	Chr7:21894919	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 7 DNAH11-related disorder	Criteria Provided Conflicting Classifications	CA175761	rs_191802172	5 SubmittersRCV000150459 RCV000468438 RCV003144142 RCV004544351
NM_001277115.2(DNAH11):c.2166A>G (p.Pro722=)	SNV Germline	Chr7:21589400	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Condition: not provided	Criteria Provided Conflicting Classifications	CA175710	rs_191266255	6 SubmittersRCV000150430 RCV000231791 RCV000724631
NM_001277115.2(DNAH11):c.6970C>G (p.Leu2324Val)	SNV Germline	Chr7:21711847	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 7 DNAH11-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA182894	rs_201323940	6 SubmittersRCV000155487 RCV000629560 RCV002227078 RCV004544440 RCV004724936
NM_001277115.2(DNAH11):c.8990G>A (p.Arg2997Gln)	SNV Germline	Chr7:21765477	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA175740	rs_35865357	7 SubmittersRCV000150447 RCV000230982 RCV001729408 RCV001705980
NM_001277115.2(DNAH11):c.9102+8G>A	SNV Germline	Chr7:21765597	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA182898	rs_72657374	6 SubmittersRCV000155489 RCV000226025 RCV003114304 RCV001706036
NM_001277115.2(DNAH11):c.10411G>A (p.Glu3471Lys)	SNV Germline	Chr7:21816545	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA175745	rs_117729990	4 SubmittersRCV000150450 RCV000305467
NM_001010892.3(RSPH4A):c.584C>G (p.Pro195Arg)	SNV Germline	Chr6:116617207	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 11 Condition: not provided	Criteria Provided Conflicting Classifications	CA177722	rs_141226759	6 SubmittersRCV000151744 RCV000327302 RCV001095098 RCV002272141
NM_152732.5(RSPH9):c.421G>A (p.Val141Met)	SNV Germline	Chr6:43655589	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 12	Criteria Provided Conflicting Classifications	CA177733	rs_2295947	3 SubmittersRCV000151749 RCV000464108 RCV001165017
NM_018139.3(DNAAF2):c.727G>T (p.Glu243Ter)	SNV Germline	Chr14:49634423	Likely pathogenic	Primary ciliary dyskinesia	Criteria Provided Single Submitter	CA273617	rs_727504815	1 SubmittersRCV000156150
NM_031427.4(DNAL1):c.415C>G (p.Leu139Val)	SNV Germline	Chr14:73689398	Conflicting classifications of pathogenicity	not specified Condition: not provided Primary ciliary dyskinesia 16	Criteria Provided Conflicting Classifications	CA182963	rs_141873943	6 SubmittersRCV000155525 RCV000723999 RCV001088090
NM_080860.4(RSPH1):c.563T>G (p.Leu188Ter)	SNV Germline	Chr21:42482647	Pathogenic/Likely pathogenic	Primary ciliary dyskinesia Primary ciliary dyskinesia 24	Criteria Provided Multiple Submitters No Conflicts	CA177720	rs_727503394	3 SubmittersRCV000151743 RCV001333454
NM_017950.4(CCDC40):c.940-7G>A	SNV Germline	Chr17:80050057	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 15 Condition: not provided	Criteria Provided Conflicting Classifications	CA184732	rs_727504972	6 SubmittersRCV000156385 RCV000340912 RCV001094542 RCV001354328
NM_001277115.2(DNAH11):c.640A>G (p.Ile214Val)	SNV Germline	Chr7:21558946	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Condition: not provided Primary ciliary dyskinesia 7	Criteria Provided Conflicting Classifications	CA179973	rs_117064287	7 SubmittersRCV000153155 RCV000196489 RCV001535047 RCV002466448
NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala)	SNV Germline	Chr17:80040052	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified Primary ciliary dyskinesia 15 Condition: not provided	Criteria Provided Conflicting Classifications	CA233639	rs_201709592	7 SubmittersRCV000196597 RCV000218985 RCV001122016 RCV003422043
NM_001277115.2(DNAH11):c.11402C>G (p.Pro3801Arg)	SNV Germline	Chr7:21864563	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA179977	rs_146362213	5 SubmittersRCV000153158 RCV000344393
NM_001277115.2(DNAH11):c.10976C>T (p.Ala3659Val)	SNV Germline	Chr7:21852546	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA179975	rs_150631721	5 SubmittersRCV000153157 RCV000271550
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_178452.6(DNAAF1):c.546C>G (p.Asn182Lys)	SNV Germline	Chr16:84154770	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia Primary ciliary dyskinesia 13	Criteria Provided Conflicting Classifications	CA233904	rs_144018942	10 SubmittersRCV000153154 RCV000232041 RCV001094435
NM_001277115.2(DNAH11):c.5622-7C>A	SNV Germline	Chr7:21687092	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia DNAH11-related disorder	Criteria Provided Conflicting Classifications	CA233906	rs_727503901	3 SubmittersRCV000153156 RCV001078676 RCV004544392
NM_001369.3(DNAH5):c.9218A>G (p.Tyr3073Cys)	SNV Germline	Chr5:13776594	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA334731	rs_138505566	3 SubmittersRCV000168403
NM_001369.3(DNAH5):c.8998C>T (p.Arg3000Ter)	SNV Germline	Chr5:13777309	Pathogenic/Likely pathogenic	Primary ciliary dyskinesia Condition: not provided DNAH5-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA334769	rs_769054713	4 SubmittersRCV000168445 RCV003221832 RCV004742300
NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp)	SNV Germline	Chr5:13786242	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified Primary ciliary dyskinesia 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA203161	rs_115776799	9 SubmittersRCV000168402 RCV000179101 RCV001095072 RCV003436964
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp)	SNV Germline	Chr5:13793948	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia 3 Condition: not provided Primary ciliary dyskinesia DNAH5-related disorder	Criteria Provided Conflicting Classifications	CA334386	rs_148720124	10 SubmittersRCV000218415 RCV000665929 RCV000766289 RCV001030822 RCV004742299
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys)	SNV Germline	Chr5:13914634	Conflicting classifications of pathogenicity	not specified Condition: not provided Primary ciliary dyskinesia 3 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA239195	rs_140782270	14 SubmittersRCV000219496 RCV000724138 RCV000665936 RCV001083198
NM_018139.3(DNAAF2):c.1584T>A (p.Asn528Lys)	SNV Germline	Chr14:49633566	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 10 Condition: not provided	Criteria Provided Conflicting Classifications	CA200549	rs_144077436	5 SubmittersRCV000173463 RCV000196382 RCV001111756 RCV003389758
NM_001277115.2(DNAH11):c.1720A>G (p.Ile574Val)	SNV Germline	Chr7:21588073	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA239193	rs_374359812	3 SubmittersRCV000173733 RCV000704090
NM_001369.3(DNAH5):c.1251C>T (p.Thr417=)	SNV Germline	Chr5:13914589	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 3	Criteria Provided Conflicting Classifications	CA200693	rs_112911055	5 SubmittersRCV000173738 RCV000861759 RCV001151284
NM_001034853.2(RPGR):c.1257A>C (p.Pro419=)	SNV Germline	ChrX:38297441	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA239467	rs_759743089	2 SubmittersRCV000173993 RCV001405879
NM_001034853.2(RPGR):c.1348T>C (p.Cys450Arg)	SNV Germline	ChrX:38297350	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia X-linked cone-rod dystrophy 1 Retinitis pigmentosa 3	Criteria Provided Conflicting Classifications	CA239469	rs_794727019	3 SubmittersRCV000173995 RCV001360742 RCV001353107
NM_023036.6(DNAI2):c.1408G>A (p.Gly470Ser)	SNV Germline	Chr17:74310077	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 9 Condition: not provided	Criteria Provided Conflicting Classifications	CA200855	rs_115299472	6 SubmittersRCV000174160 RCV000298854 RCV001094489 RCV003322757
NM_001369.3(DNAH5):c.1585C>T (p.Arg529Trp)	SNV Germline	Chr5:13911445	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA239818	rs_200452908	4 SubmittersRCV000174297 RCV000463597
NM_012144.4(DNAI1):c.1063+19C>T	SNV Germline	Chr9:34501200	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA239886	rs_794727066	2 SubmittersRCV000174363 RCV003765085
NM_023036.6(DNAI2):c.1615G>A (p.Val539Ile)	SNV Germline	Chr17:74312123	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA239939	rs_199817659	5 SubmittersRCV000174403 RCV001243976
NM_012144.4(DNAI1):c.1222G>A (p.Val408Met)	SNV Germline	Chr9:34506785	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia Kartagener syndrome	Criteria Provided Conflicting Classifications	CA240119	rs_794727103	4 SubmittersRCV000174572 RCV000696257 RCV002470792
NM_001369.3(DNAH5):c.1955G>A (p.Ser652Asn)	SNV Germline	Chr5:13901349	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA240289	rs_749126116	4 SubmittersRCV000174718 RCV000820524
NM_001277115.2(DNAH11):c.2682C>T (p.Leu894=)	SNV Germline	Chr7:21599801	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA240490	rs_149926178	3 SubmittersRCV000174869 RCV002056926
NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=)	SNV Germline	Chr7:21600912	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Condition: not provided	Criteria Provided Conflicting Classifications	CA201265	rs_72657304	8 SubmittersRCV000175028 RCV000372685 RCV001532104
NM_003611.3(OFD1):c.2168C>T (p.Ser723Leu)	SNV Germline	ChrX:13760628	Conflicting classifications of pathogenicity	Condition: not provided Orofaciodigital syndrome I Joubert syndrome Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA240715	rs_746300545	3 SubmittersRCV000175046 RCV000701169 RCV004821992
NM_001277115.2(DNAH11):c.3466G>A (p.Gly1156Arg)	SNV Germline	Chr7:21601436	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia DNAH11-related disorder Primary ciliary dyskinesia 7	Criteria Provided Conflicting Classifications	CA241015	rs_183521702	6 SubmittersRCV000175288 RCV001087376 RCV004539628 RCV005230038
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 SubmittersRCV000250356 RCV001087266 RCV000724053 RCV001145561
NM_018139.3(DNAAF2):c.1953A>G (p.Pro651=)	SNV Germline	Chr14:49628066	Conflicting classifications of pathogenicity	not specified Condition: not provided Primary ciliary dyskinesia Primary ciliary dyskinesia 10	Criteria Provided Conflicting Classifications	CA241738	rs_34352773	9 SubmittersRCV000242612 RCV000724055 RCV001083616 RCV001109442
NM_031427.4(DNAL1):c.4-15T>C	SNV Germline	Chr14:73654832	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia 16	Criteria Provided Conflicting Classifications	CA241808	rs_185924269	2 SubmittersRCV000175955 RCV002054074
NM_017950.4(CCDC40):c.3354C>A (p.Tyr1118Ter)	SNV Germline	Chr17:80099700	Pathogenic/Likely pathogenic	Condition: not provided Primary ciliary dyskinesia Respiratory ciliopathies including non-CF bronchiectasis	Criteria Provided Multiple Submitters No Conflicts	CA275098	rs_374909386	3 SubmittersRCV000176107 RCV000544631 RCV004782285
NM_001277115.2(DNAH11):c.4001T>C (p.Ile1334Thr)	SNV Germline	Chr7:21615262	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia 7 Primary ciliary dyskinesia DNAH11-related disorder	Criteria Provided Conflicting Classifications	CA242059	rs_72657309	6 SubmittersRCV000176180 RCV000515414 RCV001080777 RCV004537394
NM_001369.3(DNAH5):c.3734G>A (p.Arg1245His)	SNV Germline	Chr5:13870867	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia 3 Primary ciliary dyskinesia DNAH5-related disorder	Criteria Provided Conflicting Classifications	CA242429	rs_77939839	7 SubmittersRCV000176468 RCV001156529 RCV001086388 RCV003927625
NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr)	SNV Germline	Chr5:13870826	Conflicting classifications of pathogenicity	not specified Condition: not provided Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA242431	rs_112217391	6 SubmittersRCV000247012 RCV000724084 RCV001089342
NM_001277115.2(DNAH11):c.5936T>C (p.Leu1979Pro)	SNV Germline	Chr7:21690776	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA244772	rs_772070316	3 SubmittersRCV000177834 RCV001221043
NM_001369.3(DNAH5):c.5883-6A>G	SNV Germline	Chr5:13830781	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA244817	rs_763588282	2 SubmittersRCV000177867 RCV001446596
NM_001010892.3(RSPH4A):c.1708G>C (p.Glu570Gln)	SNV Germline	Chr6:116629612	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Condition: not provided Primary ciliary dyskinesia 11	Criteria Provided Conflicting Classifications	CA245163	rs_147003118	7 SubmittersRCV000242421 RCV000543028 RCV000724046 RCV001155427
NM_017950.4(CCDC40):c.630C>T (p.Ser210=)	SNV Germline	Chr17:80047356	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 15 Condition: not provided	Criteria Provided Conflicting Classifications	CA202815	rs_117419007	7 SubmittersRCV000178315 RCV000206735 RCV001094504 RCV001706140
NM_001277115.2(DNAH11):c.7325A>G (p.Lys2442Arg)	SNV Germline	Chr7:21725869	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia Primary ciliary dyskinesia 7 DNAH11-related disorder	Criteria Provided Conflicting Classifications	CA245722	rs_114286628	6 SubmittersRCV000178568 RCV001088819 RCV001836744 RCV004537469
NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp)	SNV Germline	Chr5:13810137	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia 3 Condition: not provided Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA245724	rs_564040169	7 SubmittersRCV000214734 RCV000672878 RCV000724052 RCV001037117
NM_001369.3(DNAH5):c.7752+10T>C	SNV Germline	Chr5:13809034	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 3	Criteria Provided Conflicting Classifications	CA202948	rs_149460805	6 SubmittersRCV000178597 RCV000228235 RCV000674418
NM_012144.4(DNAI1):c.370C>T (p.Arg124Cys)	SNV Germline	Chr9:34489431	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia Kartagener syndrome	Criteria Provided Conflicting Classifications	CA246122	rs_116938457	8 SubmittersRCV000178924 RCV000233417 RCV001095357
NM_001369.3(DNAH5):c.9355A>G (p.Lys3119Glu)	SNV Germline	Chr5:13776457	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 3	Criteria Provided Conflicting Classifications	CA203173	rs_76690956	5 SubmittersRCV000179161 RCV000474676 RCV001151915
NM_001277115.2(DNAH11):c.9640G>A (p.Ala3214Thr)	SNV Germline	Chr7:21786666	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia DNAH11-related disorder	Criteria Provided Conflicting Classifications	CA246500	rs_141979671	4 SubmittersRCV000179219 RCV000629407 RCV004537484
NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His)	SNV Germline	Chr7:21816606	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified Condition: not provided Primary ciliary dyskinesia 7 DNAH11-related disorder Developmental defect during embryogenesis	Criteria Provided Conflicting Classifications	CA246938	rs_370932895	14 SubmittersRCV000226017 RCV000218296 RCV000723974 RCV001160743 RCV004537494 RCV005625388
NM_001369.3(DNAH5):c.11234A>G (p.His3745Arg)	SNV Germline	Chr5:13737473	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA246962	rs_36088710	3 SubmittersRCV000179658 RCV002054138
NM_023036.6(DNAI2):c.1188G>A (p.Arg396=)	SNV Germline	Chr17:74305419	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA248226	rs_139935771	4 SubmittersRCV000180683 RCV001079629
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_031924.8(RSPH3):c.190C>T (p.Gln64Ter)	SNV Germline	Chr6:158993853	Pathogenic	Primary ciliary dyskinesia 32	No Assertion Criteria Provided	CA204021	rs_796052117	1 SubmittersRCV000186567
NM_031924.8(RSPH3):c.766C>T (p.Arg256Ter)	SNV Germline	Chr6:158980867	Pathogenic	Primary ciliary dyskinesia 32	No Assertion Criteria Provided	CA204023	rs_796052118	1 SubmittersRCV000186569
NM_031924.8(RSPH3):c.679C>T (p.Arg227Ter)	SNV Germline	Chr6:158982502	Pathogenic	Primary ciliary dyskinesia 32	No Assertion Criteria Provided	CA204025	rs_796052119	1 SubmittersRCV000186571
NM_001277115.2(DNAH11):c.8746C>T (p.Gln2916Ter)	SNV Germline	Chr7:21749750	Pathogenic	Primary ciliary dyskinesia 7 Primary ciliary dyskinesia	Criteria Provided Multiple Submitters No Conflicts	CA275990	rs_797045085	3 SubmittersRCV000190577 RCV000707003
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter)	SNV Germline	Chr5:13865675	Pathogenic	Kartagener syndrome Primary ciliary dyskinesia 3 Primary ciliary dyskinesia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA346933	rs_771663107	9 SubmittersRCV000190910 RCV000477807 RCV000814567 RCV005051760
NM_001190787.3(MCIDAS):c.1142G>A (p.Arg381His)	SNV Germline	Chr5:55220382	Likely pathogenic	Ciliary dyskinesia, primary, 42 Primary ciliary dyskinesia	Criteria Provided Single Submitter	CA346961	rs_797045152	2 SubmittersRCV000983978 RCV001852538
NM_031924.8(RSPH3):c.205-2A>G	SNV Germline	Chr6:158986423	Pathogenic	Primary ciliary dyskinesia 32 RSPH3-related disorder	Criteria Provided Single Submitter	CA346963	rs_142800871	3 SubmittersRCV000186568 RCV004757155
NM_018076.5(ODAD2):c.1669G>T (p.Glu557Ter)	SNV Germline	Chr10:27944296	Pathogenic	Primary ciliary dyskinesia 23 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA346942	rs_145742175	4 SubmittersRCV000234898 RCV000725126
NM_021254.4(CFAP298):c.735C>G (p.Tyr245Ter)	SNV Germline	Chr21:32602299	Pathogenic	Primary ciliary dyskinesia 26 Condition: not provided	Criteria Provided Single Submitter	CA346951	rs_202094637	2 SubmittersRCV000074371 RCV001386656
NM_080860.4(RSPH1):c.727+5G>A	SNV Germline	Chr21:42477286	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Condition: not provided Primary ciliary dyskinesia 24	Criteria Provided Conflicting Classifications	CA346947	rs_200382776	6 SubmittersRCV000685549 RCV002223814 RCV002285012
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala)	SNV Germline	ChrX:13763840	Conflicting classifications of pathogenicity	not specified Orofaciodigital syndrome I Joubert syndrome Orofaciodigital syndrome I Retinitis pigmentosa 23 Simpson-Golabi-Behmel syndrome type 2 Joubert syndrome 10 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA205192	rs_797045846	4 SubmittersRCV000192398 RCV001223911 RCV002485287 RCV004020331
NM_003611.3(OFD1):c.2619T>A (p.Ile873=)	SNV Germline	ChrX:13767146	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA207194	rs_797045847	2 SubmittersRCV000193601 RCV004020332
NM_003611.3(OFD1):c.2631G>A (p.Lys877=)	SNV Germline	ChrX:13767158	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA209289	rs_797045848	2 SubmittersRCV000194850 RCV004020333
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_001369.3(DNAH5):c.13126-2A>C	SNV Germline	Chr5:13708337	Pathogenic	Primary ciliary dyskinesia	Criteria Provided Single Submitter	CA337114	rs_863224503	1 SubmittersRCV000197324
NM_001369.3(DNAH5):c.10616G>A (p.Arg3539His)	SNV Germline	Chr5:13753489	Pathogenic/Likely pathogenic	Primary ciliary dyskinesia Condition: not provided Primary ciliary dyskinesia 3	Criteria Provided Multiple Submitters No Conflicts	CA337718	rs_769458738	6 SubmittersRCV000198195 RCV000788220 RCV004760429
NM_001369.3(DNAH5):c.9502C>T (p.Arg3168Ter)	SNV Germline	Chr5:13770852	Pathogenic/Likely pathogenic	Primary ciliary dyskinesia Primary ciliary dyskinesia 3 Respiratory ciliopathies including non-CF bronchiectasis	Criteria Provided Multiple Submitters No Conflicts	CA338247	rs_863224504	5 SubmittersRCV000198869 RCV005042422 RCV004782307
NM_001369.3(DNAH5):c.4509C>T (p.Thr1503=)	SNV Germline	Chr5:13864484	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified Condition: not provided Primary ciliary dyskinesia 3	Criteria Provided Conflicting Classifications	CA337705	rs_138157585	5 SubmittersRCV000198161 RCV000243272 RCV001532031 RCV001156312
NM_001010892.3(RSPH4A):c.1917-4A>G	SNV Germline	Chr6:116632203	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified Primary ciliary dyskinesia 11	Criteria Provided Conflicting Classifications	CA337544	rs_201826366	4 SubmittersRCV000197923 RCV000252676 RCV001095100
NM_152732.5(RSPH9):c.798C>T (p.Gly266=)	SNV Germline	Chr6:43670916	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia 12 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA337628	rs_770913202	2 SubmittersRCV000198100 RCV001464323
NM_001277115.2(DNAH11):c.661A>T (p.Met221Leu)	SNV Germline	Chr7:21558967	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA338132	rs_147525173	5 SubmittersRCV000198716 RCV000252558 RCV003437003
NM_018139.3(DNAAF2):c.1417C>T (p.Arg473Trp)	SNV Germline	Chr14:49633733	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 10	Criteria Provided Conflicting Classifications	CA337834	rs_200327783	3 SubmittersRCV000198347 RCV001094153
NM_018139.3(DNAAF2):c.20C>T (p.Ser7Phe)	SNV Germline	Chr14:49635130	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified Primary ciliary dyskinesia 10	Criteria Provided Conflicting Classifications	CA339159	rs_577796590	5 SubmittersRCV000200209 RCV000252552 RCV001094201
NM_178452.6(DNAAF1):c.1354C>A (p.Pro452Thr)	SNV Germline	Chr16:84170182	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 13 not specified Condition: not provided DNAAF1-related disorder	Criteria Provided Conflicting Classifications	CA337003	rs_145680314	8 SubmittersRCV000197156 RCV001120255 RCV001195228 RCV002515467 RCV003977549
NM_017950.4(CCDC40):c.961C>T (p.Arg321Ter)	SNV Germline	Chr17:80050085	Pathogenic	Primary ciliary dyskinesia 15 Primary ciliary dyskinesia	Criteria Provided Multiple Submitters No Conflicts	CA338083	rs_754867753	4 SubmittersRCV000763421 RCV000198649
NM_017950.4(CCDC40):c.1673C>G (p.Thr558Arg)	SNV Germline	Chr17:80081656	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified Condition: not provided Primary ciliary dyskinesia 15 CCDC40-related disorder	Criteria Provided Conflicting Classifications	CA335826	rs_191736683	7 SubmittersRCV000195666 RCV000610187 RCV001657985 RCV001125861 RCV003907743
NM_017950.4(CCDC40):c.2017G>A (p.Asp673Asn)	SNV Germline	Chr17:80084770	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 15 Condition: not provided	Criteria Provided Conflicting Classifications	CA336041	rs_115850223	5 SubmittersRCV000195936 RCV001094485 RCV001357838
NM_017950.4(CCDC40):c.2226C>T (p.Ser742=)	SNV Germline	Chr17:80084979	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 15 Condition: not provided	Criteria Provided Conflicting Classifications	CA337218	rs_72849355	4 SubmittersRCV000197452 RCV001094486 RCV005411367
NM_017950.4(CCDC40):c.3097A>T (p.Lys1033Ter)	SNV Germline	Chr17:80097320	Pathogenic	Primary ciliary dyskinesia	Criteria Provided Single Submitter	CA336158	rs_863224519	1 SubmittersRCV000196101
NM_001277115.2(DNAH11):c.58C>A (p.Arg20Ser)	SNV Germline	Chr7:21543303	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Condition: not provided	Criteria Provided Conflicting Classifications	CA248936	rs_72655967	6 SubmittersRCV000202747 RCV001081984 RCV000430697
NM_001256715.2(DNAAF3):c.1049-3C>T	SNV Germline	Chr19:55160016	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA249243	rs_747311078	2 SubmittersRCV000203038 RCV003534491
NM_001481.3(GAS8):c.927C>A (p.Cys309Ter)	SNV Germline	Chr16:90037764	Pathogenic	Primary ciliary dyskinesia 33	No Assertion Criteria Provided	CA280934	rs_748688175	1 SubmittersRCV000203519
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 SubmittersRCV000205337 RCV003430762 RCV002485338
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_001369.3(DNAH5):c.13778C>T (p.Thr4593Met)	SNV Germline	Chr5:13692081	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Condition: not provided Primary ciliary dyskinesia 3	Criteria Provided Conflicting Classifications	CA348633	rs_142036266	4 SubmittersRCV000204405 RCV000478631 RCV001095124
NM_001369.3(DNAH5):c.12379C>T (p.Arg4127Cys)	SNV Germline	Chr5:13719002	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 3	Criteria Provided Conflicting Classifications	CA350190	rs_148696723	4 SubmittersRCV000206124 RCV000669663
NM_001369.3(DNAH5):c.12251G>A (p.Arg4084Gln)	SNV Germline	Chr5:13721028	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 3 Infertility disorder	Criteria Provided Conflicting Classifications	CA350552	rs_140832239	5 SubmittersRCV000206529 RCV000665808 RCV001327954
NM_001369.3(DNAH5):c.8999G>A (p.Arg3000Gln)	SNV Germline	Chr5:13777308	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA348945	rs_137949961	6 SubmittersRCV000204742 RCV000671435 RCV001560455
NM_001369.3(DNAH5):c.5557A>T (p.Lys1853Ter)	SNV Germline	Chr5:13841058	Pathogenic	Primary ciliary dyskinesia Male infertility Primary ciliary dyskinesia 3	Criteria Provided Multiple Submitters No Conflicts	CA348039	rs_748618094	5 SubmittersRCV000203745 RCV001283735 RCV002221513
NM_001369.3(DNAH5):c.5281C>T (p.Arg1761Ter)	SNV Germline	Chr5:13841895	Pathogenic	Primary ciliary dyskinesia Primary ciliary dyskinesia 3	Criteria Provided Multiple Submitters No Conflicts	CA348934	rs_148891849	5 SubmittersRCV000204721 RCV001781611
NM_001369.3(DNAH5):c.1198G>A (p.Val400Met)	SNV Germline	Chr5:13914642	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 3 DNAH5-related disorder	Criteria Provided Conflicting Classifications	CA350879	rs_144575803	10 SubmittersRCV000206891 RCV000667189 RCV003955226
NM_001369.3(DNAH5):c.574G>A (p.Ala192Thr)	SNV Germline	Chr5:13922193	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Condition: not provided Primary ciliary dyskinesia 3	Criteria Provided Conflicting Classifications	CA350789	rs_140700961	5 SubmittersRCV000206793 RCV000585417 RCV000666957
NM_001369.3(DNAH5):c.88C>T (p.Arg30Trp)	SNV Germline	Chr5:13931214	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified Primary ciliary dyskinesia 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA350348	rs_114220185	9 SubmittersRCV000206301 RCV000242149 RCV000667117 RCV004567464
NM_001277115.2(DNAH11):c.1749T>A (p.Val583=)	SNV Germline	Chr7:21588102	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA349508	rs_368294823	5 SubmittersRCV000205350 RCV003437006 RCV005434700
NM_001277115.2(DNAH11):c.3384C>T (p.Ser1128=)	SNV Germline	Chr7:21601138	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA349929	rs_79955190	5 SubmittersRCV000205811 RCV000244962 RCV003437007
NM_001277115.2(DNAH11):c.4230G>T (p.Trp1410Cys)	SNV Germline	Chr7:21617753	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA348241	rs_367916239	2 SubmittersRCV000203962
NM_001277115.2(DNAH11):c.4501-7A>T	SNV Germline	Chr7:21635864	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified Condition: not provided Primary ciliary dyskinesia 7	Criteria Provided Conflicting Classifications	CA348176	rs_62447794	8 SubmittersRCV000203881 RCV000251895 RCV000762446 RCV003615824
NM_001277115.2(DNAH11):c.5132A>G (p.Gln1711Arg)	SNV Germline	Chr7:21658835	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Condition: not provided not specified DNAH11-related disorder	Criteria Provided Conflicting Classifications	CA349577	rs_189432084	6 SubmittersRCV000205408 RCV000998771 RCV000600436 RCV004541286
NM_001277115.2(DNAH11):c.6295G>A (p.Asp2099Asn)	SNV Germline	Chr7:21704455	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia 7 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA350678	rs_750251384	3 SubmittersRCV002503807 RCV004020521
NM_001277115.2(DNAH11):c.7294C>T (p.Arg2432Trp)	SNV Germline	Chr7:21725838	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA349204	rs_188615176	4 SubmittersRCV000205041 RCV001333063 RCV001559427
NM_001277115.2(DNAH11):c.8478C>T (p.His2826=)	SNV Germline	Chr7:21745031	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA349805	rs_62445328	5 SubmittersRCV000205671 RCV000254484 RCV000762448
NM_001277115.2(DNAH11):c.9468T>C (p.Asp3156=)	SNV Germline	Chr7:21779089	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA349149	rs_201207627	6 SubmittersRCV000204961 RCV000252675 RCV001577340
NM_001277115.2(DNAH11):c.9907A>G (p.Ile3303Val)	SNV Germline	Chr7:21787566	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA349446	rs_376875223	3 SubmittersRCV000205270
NM_001277115.2(DNAH11):c.12561T>G (p.Asp4187Glu)	SNV Germline	Chr7:21892478	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA348046	rs_148429731	7 SubmittersRCV000203756 RCV000214432 RCV000514577
NM_001277115.2(DNAH11):c.12632C>T (p.Pro4211Leu)	SNV Germline	Chr7:21892549	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA348703	rs_142585703	8 SubmittersRCV000204475 RCV000856671 RCV000659071
NM_018076.5(ODAD2):c.2342G>T (p.Gly781Val)	SNV Germline	Chr10:27935163	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia 23 Primary ciliary dyskinesia ODAD2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA350433	rs_145619075	6 SubmittersRCV000206393 RCV002460992 RCV003937790 RCV001531054
NM_017950.4(CCDC40):c.3181-2A>G	SNV Germline	Chr17:80099525	Likely pathogenic	Primary ciliary dyskinesia	Criteria Provided Single Submitter	CA348827	rs_762664261	1 SubmittersRCV000204611
NM_003611.3(OFD1):c.355C>A (p.Pro119Thr)	SNV Germline	ChrX:13738888	Conflicting classifications of pathogenicity	Joubert syndrome Orofaciodigital syndrome I Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA349854	rs_202103941	2 SubmittersRCV002057049 RCV004020507
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 Primary ciliary dyskinesia 14 CCDC39-related disorder	Criteria Provided Conflicting Classifications	CA2715852	rs_769223754	5 SubmittersRCV000214679 RCV000233515 RCV005025350 RCV003417772
NM_001369.3(DNAH5):c.12209C>T (p.Thr4070Ile)	SNV Germline	Chr5:13721070	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA3201712	rs_746662023	4 SubmittersRCV000223150 RCV001833203
NM_001369.3(DNAH5):c.11974G>C (p.Asp3992His)	SNV Germline	Chr5:13727566	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 3	Criteria Provided Conflicting Classifications	CA3201780	rs_143251480	6 SubmittersRCV000214511 RCV000541309 RCV000666941
NM_001369.3(DNAH5):c.11437C>T (p.Arg3813Trp)	SNV Germline	Chr5:13737270	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Condition: not provided Primary ciliary dyskinesia 3 DNAH5-related disorder	Criteria Provided Conflicting Classifications	CA3201981	rs_140948493	8 SubmittersRCV000221456 RCV000226887 RCV001589126 RCV000667684 RCV004742336
NM_001369.3(DNAH5):c.10323G>A (p.Met3441Ile)	SNV Germline	Chr5:13758942	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 3	Criteria Provided Conflicting Classifications	CA3202276	rs_149133845	8 SubmittersRCV000222754 RCV000382477 RCV001095007
NM_001369.3(DNAH5):c.10294G>T (p.Val3432Leu)	SNV Germline	Chr5:13758971	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 3	Criteria Provided Conflicting Classifications	CA3202282	rs_143251588	7 SubmittersRCV000218494 RCV000457798 RCV001153065
NM_001369.3(DNAH5):c.8840C>T (p.Thr2947Ile)	SNV Germline	Chr5:13780940	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA3202693	rs_756216163	4 SubmittersRCV000223383 RCV001833204
NM_001369.3(DNAH5):c.7212T>C (p.Asp2404=)	SNV Germline	Chr5:13814623	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 3	Criteria Provided Conflicting Classifications	CA10576647	rs_876657454	3 SubmittersRCV000223615 RCV001484159 RCV001157581
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile)	SNV Germline	Chr5:13830026	Pathogenic/Likely pathogenic	Primary ciliary dyskinesia Primary ciliary dyskinesia 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA501221	rs_753614861	9 SubmittersRCV000214042 RCV000778755 RCV002253304
NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys)	SNV Germline	Chr5:13844842	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA3203750	rs_116524991	8 SubmittersRCV000220686 RCV000227501 RCV001152320 RCV001582726
NM_001369.3(DNAH5):c.4796+11C>A	SNV Germline	Chr5:13862537	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia 3 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA3203893	rs_146696580	4 SubmittersRCV000221152 RCV001152428 RCV002054371
NM_001369.3(DNAH5):c.4510G>C (p.Gly1504Arg)	SNV Germline	Chr5:13864483	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA3203964	rs_143567667	8 SubmittersRCV000222371 RCV000351920 RCV001095083 RCV005243162
NM_001369.3(DNAH5):c.3534C>T (p.Asn1178=)	SNV Germline	Chr5:13871628	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 3	Criteria Provided Conflicting Classifications	CA3204242	rs_151274810	5 SubmittersRCV000219413 RCV000553639 RCV001156531
NM_001369.3(DNAH5):c.1321-15T>C	SNV Germline	Chr5:13913973	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia 3 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA3204877	rs_202081804	3 SubmittersRCV000215129 RCV000302531 RCV002054945
NM_001010892.3(RSPH4A):c.1662+15C>T	SNV Germline	Chr6:116628384	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia 11 not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA3970992	rs_183372450	3 SubmittersRCV000338468 RCV000222735 RCV002057142
NM_001010892.3(RSPH4A):c.1974A>G (p.Thr658=)	SNV Germline	Chr6:116632264	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia RSPH4A-related disorder Primary ciliary dyskinesia 11 Condition: not provided	Criteria Provided Conflicting Classifications	CA3971096	rs_142977481	6 SubmittersRCV000220808 RCV000531490 RCV003947712 RCV001157112 RCV004721302
NM_001277115.2(DNAH11):c.1426-9T>C	SNV Germline	Chr7:21571797	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Condition: not provided Primary ciliary dyskinesia 7	Criteria Provided Conflicting Classifications	CA4178983	rs_72655983	8 SubmittersRCV000214869 RCV000233997 RCV001731439 RCV003114375
NM_001277115.2(DNAH11):c.4333C>T (p.Arg1445Ter)	SNV Germline	Chr7:21619178	Pathogenic/Likely pathogenic	Primary ciliary dyskinesia Condition: not provided Primary ciliary dyskinesia 7 Respiratory ciliopathies including non-CF bronchiectasis	Criteria Provided Multiple Submitters No Conflicts	CA4179997	rs_72657316	7 SubmittersRCV000218593 RCV003325469 RCV003147415 RCV005252820
NM_001277115.2(DNAH11):c.5152A>G (p.Ile1718Val)	SNV Germline	Chr7:21658855	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia DNAH11-related disorder	Criteria Provided Conflicting Classifications	CA4180322	rs_137855415	5 SubmittersRCV000215305 RCV000299427 RCV004541307
NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter)	SNV Germline	Chr7:21702773	Pathogenic	Primary ciliary dyskinesia Condition: not provided Primary ciliary dyskinesia 7 DNAH11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA4180738	rs_200693106	11 SubmittersRCV000223514 RCV001554971 RCV001782703 RCV004541339
NM_001277115.2(DNAH11):c.6683+13C>G	SNV Germline	Chr7:21707848	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Condition: not provided Primary ciliary dyskinesia 7	Criteria Provided Conflicting Classifications	CA4180934	rs_17145077	6 SubmittersRCV000216890 RCV000326898 RCV001530718 RCV002227095
NM_001277115.2(DNAH11):c.8647G>A (p.Glu2883Lys)	SNV Germline	Chr7:21748716	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA4181664	rs_752605468	3 SubmittersRCV000217601 RCV003765367
NM_001277115.2(DNAH11):c.9435G>A (p.Thr3145=)	SNV Germline	Chr7:21779056	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Condition: not provided Primary ciliary dyskinesia 7	Criteria Provided Conflicting Classifications	CA4181961	rs_72657379	6 SubmittersRCV000222973 RCV000226484 RCV002274964 RCV003615827
NM_001277115.2(DNAH11):c.11233G>A (p.Glu3745Lys)	SNV Germline	Chr7:21861883	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Condition: not provided Primary ciliary dyskinesia 7	Criteria Provided Conflicting Classifications	CA4182677	rs_182389910	8 SubmittersRCV000213329 RCV000231725 RCV000426049 RCV003615825
NM_001277115.2(DNAH11):c.12175G>A (p.Ala4059Thr)	SNV Germline	Chr7:21873481	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 7	Criteria Provided Conflicting Classifications	CA4182980	rs_142372794	5 SubmittersRCV000215582 RCV000536515 RCV001162552
NM_001277115.2(DNAH11):c.12899G>A (p.Arg4300His)	SNV Germline	Chr7:21894771	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified Primary ciliary dyskinesia 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA4183210	rs_377388499	6 SubmittersRCV000349165 RCV000221830 RCV003144164 RCV004767161
NM_001277115.2(DNAH11):c.13050-15C>T	SNV Germline	Chr7:21899321	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA4183273	rs_149634292	4 SubmittersRCV000215532 RCV000336279
NM_012144.4(DNAI1):c.47A>G (p.Gln16Arg)	SNV Germline	Chr9:34459052	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Condition: not provided DNAI1-related disorder	Criteria Provided Conflicting Classifications	CA5033878	rs_148701985	5 SubmittersRCV000216654 RCV000458049 RCV005411376 RCV003977620
NM_012144.4(DNAI1):c.297A>G (p.Gln99=)	SNV Germline	Chr9:34489358	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Condition: not provided	Criteria Provided Conflicting Classifications	CA5034009	rs_77344166	7 SubmittersRCV000216144 RCV000229436 RCV001707555
NM_018139.3(DNAAF2):c.1595A>G (p.Glu532Gly)	SNV Germline	Chr14:49633555	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia 10 Primary ciliary dyskinesia DNAAF2-related disorder	Criteria Provided Conflicting Classifications	CA7172874	rs_143210369	6 SubmittersRCV000221567 RCV000313737 RCV001215568 RCV003407743
NM_018139.3(DNAAF2):c.1463G>A (p.Gly488Glu)	SNV Germline	Chr14:49633687	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia 10 Primary ciliary dyskinesia DNAAF2-related disorder	Criteria Provided Conflicting Classifications	CA7172911	rs_200121200	5 SubmittersRCV000214384 RCV000319641 RCV000983838 RCV003907824
NM_018139.3(DNAAF2):c.697G>A (p.Ala233Thr)	SNV Germline	Chr14:49634453	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA7173050	rs_761407249	3 SubmittersRCV000214611 RCV001041287
NM_018139.3(DNAAF2):c.423C>T (p.Val141=)	SNV Germline	Chr14:49634727	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 10	Criteria Provided Conflicting Classifications	CA7173110	rs_373251065	5 SubmittersRCV000213301 RCV000358214 RCV001094158
NM_178452.6(DNAAF1):c.1499C>G (p.Pro500Arg)	SNV Germline	Chr16:84170327	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Condition: not provided	Criteria Provided Conflicting Classifications	CA8202874	rs_138838276	5 SubmittersRCV000220010 RCV000629577 RCV004725070
NM_178452.6(DNAAF1):c.1988C>T (p.Pro663Leu)	SNV Germline	Chr16:84176222	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA8203073	rs_147393144	3 SubmittersRCV000220957 RCV000813165
NM_023036.6(DNAI2):c.571C>T (p.Pro191Ser)	SNV Germline	Chr17:74289697	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia 9 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA8745397	rs_201457010	5 SubmittersRCV000217045 RCV000667140 RCV000861979
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter)	SNV Germline	Chr17:74309345	Pathogenic/Likely pathogenic	Primary ciliary dyskinesia 9 Primary ciliary dyskinesia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA501229	rs_752924362	10 SubmittersRCV000410372 RCV000220262 RCV004767162
NM_017950.4(CCDC40):c.940-2A>G	SNV Germline	Chr17:80050062	Pathogenic	Primary ciliary dyskinesia	Criteria Provided Multiple Submitters No Conflicts	CA8813631	rs_750708201	3 SubmittersRCV000221299
NM_017950.4(CCDC40):c.1467C>T (p.Ser489=)	SNV Germline	Chr17:80065511	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 15	Criteria Provided Conflicting Classifications	CA8813853	rs_200154414	3 SubmittersRCV000214633 RCV000865598 RCV001125858
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_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln)	SNV Germline	Chr5:13692084	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 3	Criteria Provided Conflicting Classifications	CA3201244	rs_367709427	5 SubmittersRCV000229430 RCV000670498
NM_001369.3(DNAH5):c.12523G>A (p.Val4175Met)	SNV Germline	Chr5:13717497	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA3201602	rs_148123430	7 SubmittersRCV000226198 RCV000674761 RCV001200467
NM_001369.3(DNAH5):c.11231C>A (p.Thr3744Asn)	SNV Germline	Chr5:13737476	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 3	Criteria Provided Conflicting Classifications	CA3202018	rs_529225111	6 SubmittersRCV000231984 RCV000665807
NM_001369.3(DNAH5):c.10384C>T (p.Gln3462Ter)	SNV Germline	Chr5:13758881	Pathogenic	Primary ciliary dyskinesia Primary ciliary dyskinesia 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3202257	rs_571919972	9 SubmittersRCV000233866 RCV000679863 RCV001572953
NM_001369.3(DNAH5):c.10226G>C (p.Trp3409Ser)	SNV Germline	Chr5:13762777	Pathogenic/Likely pathogenic	Primary ciliary dyskinesia	Criteria Provided Multiple Submitters No Conflicts	CA3202307	rs_755407407	2 SubmittersRCV000231062
NM_001369.3(DNAH5):c.9986T>C (p.Leu3329Pro)	SNV Germline	Chr5:13766091	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified	Criteria Provided Conflicting Classifications	CA10582396	rs_878854459	2 SubmittersRCV000226362 RCV004701313
NM_001369.3(DNAH5):c.8029C>T (p.Arg2677Ter)	SNV Germline	Chr5:13793710	Pathogenic	Primary ciliary dyskinesia Heterotaxy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3202915	rs_775946081	5 SubmittersRCV000232132 RCV001731458 RCV004719779
NM_001369.3(DNAH5):c.7034G>A (p.Trp2345Ter)	SNV Germline	Chr5:13814801	Pathogenic	Primary ciliary dyskinesia	Criteria Provided Single Submitter	CA10582397	rs_755596256	1 SubmittersRCV000231665
NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys)	SNV Germline	Chr5:13841763	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 3 Infertility disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3203683	rs_142155986	9 SubmittersRCV000227953 RCV000669971 RCV001327951 RCV003311723
NM_001369.3(DNAH5):c.5290T>C (p.Ser1764Pro)	SNV Germline	Chr5:13841886	Pathogenic/Likely pathogenic	Primary ciliary dyskinesia Primary ciliary dyskinesia 3	Criteria Provided Multiple Submitters No Conflicts	CA3203705	rs_748763552	3 SubmittersRCV000234185 RCV002494641
NM_001369.3(DNAH5):c.5114+1G>C	SNV Germline	Chr5:13850651	Pathogenic	Primary ciliary dyskinesia	Criteria Provided Multiple Submitters No Conflicts	CA10582399	rs_878854457	3 SubmittersRCV000229823
NM_001369.3(DNAH5):c.4961G>A (p.Arg1654Gln)	SNV Germline	Chr5:13850805	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Condition: not provided Primary ciliary dyskinesia 3	Criteria Provided Conflicting Classifications	CA3203823	rs_150868941	10 SubmittersRCV000227048 RCV000519727 RCV000673861
NM_001369.3(DNAH5):c.2861A>C (p.Glu954Ala)	SNV Germline	Chr5:13885111	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA3204469	rs_753696648	3 SubmittersRCV000228036
NM_001369.3(DNAH5):c.1830G>A (p.Gln610=)	SNV Germline	Chr5:13901474	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 3	Criteria Provided Conflicting Classifications	CA3204736	rs_549164618	3 SubmittersRCV000231004 RCV001154229
NM_001369.3(DNAH5):c.841G>A (p.Val281Ile)	SNV Germline	Chr5:13919310	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA3205054	rs_548585661	3 SubmittersRCV000225882
NM_001369.3(DNAH5):c.367C>T (p.Leu123Phe)	SNV Germline	Chr5:13923351	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA3205201	rs_148017278	4 SubmittersRCV000232369 RCV001095094 RCV003311722
NM_001369.3(DNAH5):c.330A>T (p.Lys110Asn)	SNV Germline	Chr5:13923388	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 3	Criteria Provided Conflicting Classifications	CA3205211	rs_138832246	5 SubmittersRCV000231939 RCV001151413
NM_001190787.3(MCIDAS):c.856G>A (p.Glu286Lys)	SNV Germline	Chr5:55220668	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia MCIDAS-related disorder Ciliary dyskinesia, primary, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA3266550	rs_185737637	4 SubmittersRCV000229563 RCV003929950 RCV005396768 RCV004705058
NM_001190787.3(MCIDAS):c.739C>T (p.Arg247Trp)	SNV Germline	Chr5:55220785	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified Ciliary dyskinesia, primary, 42	Criteria Provided Conflicting Classifications	CA3266561	rs_199825346	3 SubmittersRCV000231891 RCV000238760 RCV005230144
NM_001190787.3(MCIDAS):c.120+3G>A	SNV Germline	Chr5:55227016	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Ciliary dyskinesia, primary, 42 Condition: not provided	Criteria Provided Conflicting Classifications	CA3266605	rs_186341559	4 SubmittersRCV000232005 RCV002272187 RCV003430780
NM_001206927.2(DNAH8):c.725G>A (p.Arg242His)	SNV Germline	Chr6:38734588	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Condition: not provided Spermatogenic failure 46	Criteria Provided Conflicting Classifications	CA3788025	rs_142863013	3 SubmittersRCV000232124 RCV003151760 RCV002478849
NM_001206927.2(DNAH8):c.9194+1G>A	SNV Germline	Chr6:38899907	Likely pathogenic	Primary ciliary dyskinesia DNAH8-related disorder	Criteria Provided Single Submitter	CA3790412	rs_144711161	2 SubmittersRCV000228661 RCV003417812
NM_001206927.2(DNAH8):c.9710T>C (p.Val3237Ala)	SNV Germline	Chr6:38909714	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified	Criteria Provided Conflicting Classifications	CA3790531	rs_141147863	2 SubmittersRCV000231429 RCV004020782
NM_001277115.2(DNAH11):c.126G>A (p.Glu42=)	SNV Germline	Chr7:21543371	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA4178618	rs_748250611	2 SubmittersRCV000226948
NM_001277115.2(DNAH11):c.338C>A (p.Ala113Glu)	SNV Germline	Chr7:21543583	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 7	Criteria Provided Conflicting Classifications	CA4178653	rs_772913999	2 SubmittersRCV000232706 RCV002503903
NM_001277115.2(DNAH11):c.563T>G (p.Met188Arg)	SNV Germline	Chr7:21558869	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Condition: not provided	Criteria Provided Conflicting Classifications	CA4178712	rs_768697972	3 SubmittersRCV000229890 RCV005055777
NM_001277115.2(DNAH11):c.998A>G (p.Gln333Arg)	SNV Germline	Chr7:21564201	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA10582477	rs_878854450	2 SubmittersRCV000227399
NM_001277115.2(DNAH11):c.3122G>A (p.Trp1041Ter)	SNV Germline	Chr7:21600797	Pathogenic	Primary ciliary dyskinesia	Criteria Provided Single Submitter	CA10582478	rs_878854441	1 SubmittersRCV000226298
NM_001277115.2(DNAH11):c.3288G>A (p.Met1096Ile)	SNV Germline	Chr7:21601042	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA4179588	rs_575775297	4 SubmittersRCV000232030 RCV003485566 RCV004692853
NM_001277115.2(DNAH11):c.3933A>G (p.Pro1311=)	SNV Germline	Chr7:21615194	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA4179825	rs_138071140	4 SubmittersRCV000229388 RCV001165396 RCV003437018
NM_001277115.2(DNAH11):c.4124G>A (p.Arg1375His)	SNV Germline	Chr7:21617647	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Condition: not provided	Criteria Provided Conflicting Classifications	CA4179909	rs_151018293	3 SubmittersRCV000227209 RCV004721314
NM_001277115.2(DNAH11):c.4438C>T (p.Arg1480Ter)	SNV Germline	Chr7:21620016	Pathogenic	Primary ciliary dyskinesia Primary ciliary dyskinesia 7 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA4180047	rs_72657321	3 SubmittersRCV000230700 RCV004800350 RCV001576866
NM_001277115.2(DNAH11):c.4455A>G (p.Leu1485=)	SNV Germline	Chr7:21620033	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified	Criteria Provided Conflicting Classifications	CA4180052	rs_79119693	4 SubmittersRCV000234696 RCV000250581
NM_001277115.2(DNAH11):c.4598T>G (p.Ile1533Ser)	SNV Germline	Chr7:21635968	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified Primary ciliary dyskinesia 7	Criteria Provided Conflicting Classifications	CA4180105	rs_73682656	5 SubmittersRCV000228531 RCV000246818 RCV003615828
NM_001277115.2(DNAH11):c.4621C>T (p.Arg1541Ter)	SNV Germline	Chr7:21635991	Pathogenic	Primary ciliary dyskinesia	Criteria Provided Multiple Submitters No Conflicts	CA4180111	rs_757013900	2 SubmittersRCV000232517
NM_001277115.2(DNAH11):c.4944+1G>A	SNV Germline	Chr7:21639066	Likely pathogenic	Primary ciliary dyskinesia DNAH11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10582482	rs_878854444	2 SubmittersRCV000228105 RCV004529391
NM_001277115.2(DNAH11):c.5993G>A (p.Gly1998Asp)	SNV Germline	Chr7:21690833	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA4180631	rs_369704964	2 SubmittersRCV000226575
NM_001277115.2(DNAH11):c.6302A>G (p.Asn2101Ser)	SNV Germline	Chr7:21704462	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Condition: not provided	Criteria Provided Conflicting Classifications	CA4180777	rs_201618995	4 SubmittersRCV000229432 RCV000657850
NM_001277115.2(DNAH11):c.8610C>G (p.Tyr2870Ter)	SNV Germline	Chr7:21748679	Pathogenic	Primary ciliary dyskinesia	Criteria Provided Single Submitter	CA10582483	rs_878854446	1 SubmittersRCV000233638
NM_001277115.2(DNAH11):c.8969G>A (p.Arg2990His)	SNV Germline	Chr7:21765456	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Condition: not provided not specified Primary ciliary dyskinesia 7	Criteria Provided Conflicting Classifications	CA4181804	rs_72657371	7 SubmittersRCV000228153 RCV000515080 RCV000253825 RCV002227098
NM_001277115.2(DNAH11):c.9018G>A (p.Thr3006=)	SNV Germline	Chr7:21765505	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified Primary ciliary dyskinesia 7	Criteria Provided Conflicting Classifications	CA4181821	rs_72657372	5 SubmittersRCV000228824 RCV000250385 RCV002227099
NM_001277115.2(DNAH11):c.9449G>A (p.Arg3150Gln)	SNV Germline	Chr7:21779070	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA4181967	rs_181785201	3 SubmittersRCV000229246
NM_001277115.2(DNAH11):c.9783G>C (p.Glu3261Asp)	SNV Germline	Chr7:21787442	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA4182114	rs_201944089	8 SubmittersRCV000229707 RCV000764703 RCV002291605
NM_001277115.2(DNAH11):c.10085A>C (p.Lys3362Thr)	SNV Germline	Chr7:21801195	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA4182225	rs_756499246	2 SubmittersRCV000234358
NM_001277115.2(DNAH11):c.10324C>T (p.Gln3442Ter)	SNV Germline	Chr7:21808041	Pathogenic/Likely pathogenic	Primary ciliary dyskinesia Primary ciliary dyskinesia 7 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA4182316	rs_72657393	4 SubmittersRCV000228211 RCV005031813 RCV005055776
NM_001277115.2(DNAH11):c.10391C>T (p.Thr3464Ile)	SNV Germline	Chr7:21816525	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 7	Criteria Provided Conflicting Classifications	CA4182353	rs_141112088	4 SubmittersRCV000232174 RCV002227097
NM_001277115.2(DNAH11):c.11277C>G (p.Ile3759Met)	SNV Germline	Chr7:21861927	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA4182691	rs_202148932	5 SubmittersRCV000226695 RCV002487063 RCV004791357
NM_001277115.2(DNAH11):c.11381T>A (p.Leu3794Ter)	SNV Germline	Chr7:21864542	Pathogenic	Primary ciliary dyskinesia	Criteria Provided Single Submitter	CA10582486	rs_878854435	1 SubmittersRCV000229548
NM_001277115.2(DNAH11):c.11967+5G>A	SNV Germline	Chr7:21868996	Likely pathogenic	Primary ciliary dyskinesia	Criteria Provided Single Submitter	CA10582487	rs_878854436	1 SubmittersRCV000226238
NM_001277115.2(DNAH11):c.13113G>A (p.Pro4371=)	SNV Germline	Chr7:21899399	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Condition: not provided	Criteria Provided Conflicting Classifications	CA4183299	rs_148707462	4 SubmittersRCV000227626 RCV003992243
NM_016616.5(NME8):c.610A>G (p.Ile204Val)	SNV Germline	Chr7:37865606	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia 6 Condition: not provided NME8-related disorder Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA4222275	rs_146777129	6 SubmittersRCV001086415 RCV000594581 RCV003929989 RCV002356306
NM_017802.4(DNAAF5):c.550C>A (p.Arg184Ser)	SNV Germline	Chr7:727270	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 18 Condition: not provided Congenital heart disease	Criteria Provided Conflicting Classifications	CA10582538	rs_878855039	5 SubmittersRCV000227088 RCV000765976 RCV004692860 RCV005625471
NM_003114.5(SPAG1):c.205G>A (p.Ala69Thr)	SNV Germline	Chr8:100165878	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia 28 SPAG1-related disorder Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA4827199	rs_149271265	4 SubmittersRCV000231674 RCV003907898 RCV002418030
NM_003114.5(SPAG1):c.1360G>C (p.Glu454Gln)	SNV Germline	Chr8:100213353	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia 28 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA10582553	rs_878855237	2 SubmittersRCV000232428 RCV002379030
NM_003114.5(SPAG1):c.2714C>T (p.Ser905Leu)	SNV Germline	Chr8:100240955	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia 28 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA4827851	rs_142031266	3 SubmittersRCV000226642 RCV002429139
NM_012144.4(DNAI1):c.912C>G (p.Tyr304Ter)	SNV Germline	Chr9:34500732	Pathogenic	Primary ciliary dyskinesia	Criteria Provided Single Submitter	CA10582661	rs_878854968	1 SubmittersRCV000232560
NM_012144.4(DNAI1):c.1307G>A (p.Trp436Ter)	SNV Germline	Chr9:34506870	Pathogenic/Likely pathogenic	Primary ciliary dyskinesia Kartagener syndrome	Criteria Provided Multiple Submitters No Conflicts	CA5034342	rs_769284314	2 SubmittersRCV000228761 RCV002500798
NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter)	SNV Germline	Chr9:34514468	Pathogenic/Likely pathogenic	Primary ciliary dyskinesia Kartagener syndrome	Criteria Provided Multiple Submitters No Conflicts	CA5034487	rs_200669099	6 SubmittersRCV000231603 RCV000763195
NM_012144.4(DNAI1):c.1929C>A (p.Ile643=)	SNV Germline	Chr9:34517395	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Kartagener syndrome	Criteria Provided Conflicting Classifications	CA5034584	rs_146434058	5 SubmittersRCV000226585 RCV000667669
NM_018076.5(ODAD2):c.883G>C (p.Val295Leu)	SNV Germline	Chr10:27981519	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia 23 Primary ciliary dyskinesia ODAD2-related disorder	Criteria Provided Conflicting Classifications	CA5453690	rs_143215183	5 SubmittersRCV000228681 RCV001083031 RCV002461014 RCV003955362
NM_018139.3(DNAAF2):c.1405T>A (p.Cys469Ser)	SNV Germline	Chr14:49633745	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 10 Condition: not provided DNAAF2-related disorder	Criteria Provided Conflicting Classifications	CA7172923	rs_202079418	6 SubmittersRCV000234267 RCV001094235 RCV003389768 RCV003947792
NM_018139.3(DNAAF2):c.824C>T (p.Ala275Val)	SNV Germline	Chr14:49634326	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 10 DNAAF2-related disorder	Criteria Provided Conflicting Classifications	CA7173023	rs_200291432	4 SubmittersRCV000225962 RCV001094080 RCV003967661
NM_178452.6(DNAAF1):c.1031-5A>T	SNV Germline	Chr16:84169854	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified Primary ciliary dyskinesia 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA8202746	rs_79772571	8 SubmittersRCV000228003 RCV000249100 RCV001115555 RCV001529164
NM_178452.6(DNAAF1):c.1350G>A (p.Pro450=)	SNV Germline	Chr16:84170178	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified Primary ciliary dyskinesia 13	Criteria Provided Conflicting Classifications	CA8202837	rs_148990251	5 SubmittersRCV000230555 RCV000245879 RCV001120254
NM_178452.6(DNAAF1):c.1495C>A (p.Pro499Thr)	SNV Germline	Chr16:84170323	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 13 DNAAF1-related disorder	Criteria Provided Conflicting Classifications	CA8202872	rs_201519478	4 SubmittersRCV000227306 RCV001094440 RCV003967671
NM_178452.6(DNAAF1):c.1698+1G>A	SNV Germline	Chr16:84174723	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified Primary ciliary dyskinesia 13 Condition: not provided Heterotaxy DNAAF1-related disorder	Criteria Provided Conflicting Classifications	CA8202996	rs_139519641	9 SubmittersRCV000230981 RCV000825066 RCV000778482 RCV001553061 RCV001731543 RCV003919989
NM_178452.6(DNAAF1):c.2082C>T (p.Ala694=)	SNV Germline	Chr16:84177745	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 13	Criteria Provided Conflicting Classifications	CA8203160	rs_769877978	2 SubmittersRCV000228813 RCV001120651
NM_023036.6(DNAI2):c.759G>A (p.Ala253=)	SNV Germline	Chr17:74299752	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified Primary ciliary dyskinesia 9	Criteria Provided Conflicting Classifications	CA8745487	rs_142656395	5 SubmittersRCV000229451 RCV000244008 RCV001094495
NM_023036.6(DNAI2):c.854C>T (p.Thr285Met)	SNV Germline	Chr17:74299847	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Condition: not provided	Criteria Provided Conflicting Classifications	CA8745508	rs_141079076	3 SubmittersRCV000232803 RCV003329268
NM_023036.6(DNAI2):c.1420G>A (p.Gly474Arg)	SNV Germline	Chr17:74310089	Pathogenic	Primary ciliary dyskinesia	Criteria Provided Single Submitter	CA10583671	rs_878855078	1 SubmittersRCV000234217
NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val)	SNV Germline	Chr17:74312082	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified Primary ciliary dyskinesia 9 Condition: not provided	Criteria Provided Conflicting Classifications	CA8745833	rs_145602856	7 SubmittersRCV000232038 RCV000613204 RCV001094498 RCV003417837
NM_023036.6(DNAI2):c.1644C>T (p.Ala548=)	SNV Germline	Chr17:74312152	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 9 DNAI2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA8745853	rs_9908476	7 SubmittersRCV000230112 RCV001124194 RCV003967663 RCV003422157
NM_017950.4(CCDC40):c.490G>A (p.Gly164Arg)	SNV Germline	Chr17:80040208	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA8813453	rs_770564150	2 SubmittersRCV000230462
NM_017950.4(CCDC40):c.1138G>A (p.Ala380Thr)	SNV Germline	Chr17:80050262	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA8813695	rs_199564182	2 SubmittersRCV000228173
NM_017950.4(CCDC40):c.2958C>T (p.Leu986=)	SNV Germline	Chr17:80095388	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified Primary ciliary dyskinesia 15 Condition: not provided	Criteria Provided Conflicting Classifications	CA8814560	rs_78945041	6 SubmittersRCV000228820 RCV000241848 RCV001122306 RCV003422155
NM_018076.5(ODAD2):c.2495+1G>A	SNV Germline	Chr10:27935009	Pathogenic	Primary ciliary dyskinesia 23 Primary ciliary dyskinesia	Criteria Provided Multiple Submitters No Conflicts	CA10584010	rs_879253744	3 SubmittersRCV000234915 RCV000608160
NM_018076.5(ODAD2):c.2219G>A (p.Trp740Ter)	SNV Germline	Chr10:27936759	Pathogenic/Likely pathogenic	Primary ciliary dyskinesia 23 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA5453275	rs_201213030	5 SubmittersRCV000234856 RCV001579688
NM_018076.5(ODAD2):c.2014G>T (p.Glu672Ter)	SNV Germline	Chr10:27939980	Pathogenic	Primary ciliary dyskinesia 23	Criteria Provided Multiple Submitters No Conflicts	CA5453327	rs_771920114	2 SubmittersRCV000234877
NM_018076.5(ODAD2):c.1969C>T (p.Gln657Ter)	SNV Germline	Chr10:27940580	Pathogenic	Primary ciliary dyskinesia 23	Criteria Provided Multiple Submitters No Conflicts	CA10584011	rs_868755574	2 SubmittersRCV000234900
NM_153614.4(DNAJB13):c.833T>G (p.Met278Arg)	SNV Germline	Chr11:73969996	Pathogenic	Primary ciliary dyskinesia 34	No Assertion Criteria Provided	CA10586323	rs_754776389	1 SubmittersRCV000239984
NM_153614.4(DNAJB13):c.68+1G>C	SNV Germline	Chr11:73951138	Pathogenic	Primary ciliary dyskinesia 34	No Assertion Criteria Provided	CA10586324	rs_775700619	1 SubmittersRCV000240325
NM_031421.5(ODAD4):c.114+1G>T	SNV Germline	Chr17:41930838	Pathogenic	Primary ciliary dyskinesia 35	No Assertion Criteria Provided	CA10586334	rs_886037888	1 SubmittersRCV000240603
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 SubmittersRCV000242620 RCV002518665 RCV001149887
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 SubmittersRCV000294522 RCV000247466 RCV001094924
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 SubmittersRCV000246808 RCV000370071 RCV001094894
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_001369.3(DNAH5):c.12367C>T (p.His4123Tyr)	SNV Germline	Chr5:13719014	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 3	Criteria Provided Conflicting Classifications	CA3201662	rs_151145750	6 SubmittersRCV000253565 RCV000361695 RCV001094958
NM_001369.3(DNAH5):c.12279+6G>C	SNV Germline	Chr5:13720994	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA3201695	rs_762179184	2 SubmittersRCV000251840 RCV000812834
NM_001369.3(DNAH5):c.11761+5A>G	SNV Germline	Chr5:13735126	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified Primary ciliary dyskinesia 3	Criteria Provided Conflicting Classifications	CA3201861	rs_780205801	4 SubmittersRCV000307774 RCV000245193 RCV001095003
NM_001369.3(DNAH5):c.11571-9A>G	SNV Germline	Chr5:13735330	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia 3 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA3201905	rs_779715252	3 SubmittersRCV000249849 RCV000303992 RCV002058031
NM_001369.3(DNAH5):c.11570+13G>A	SNV Germline	Chr5:13735805	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia 3 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA3201922	rs_80199741	3 SubmittersRCV000248526 RCV000358718 RCV002519904
NM_001369.3(DNAH5):c.9941G>A (p.Arg3314His)	SNV Germline	Chr5:13766136	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 3	Criteria Provided Conflicting Classifications	CA3202373	rs_143858741	6 SubmittersRCV000250851 RCV000303574 RCV001095071
NM_001369.3(DNAH5):c.9681A>G (p.Lys3227=)	SNV Germline	Chr5:13769540	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA3202471	rs_138639741	7 SubmittersRCV000254406 RCV000861990 RCV001157366 RCV001731548
NM_001369.3(DNAH5):c.9244C>A (p.Leu3082Ile)	SNV Germline	Chr5:13776568	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia 3 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA3202588	rs_147372600	6 SubmittersRCV000243301 RCV001094979 RCV000300115
NM_001369.3(DNAH5):c.8805G>C (p.Met2935Ile)	SNV Germline	Chr5:13786194	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 3	Criteria Provided Conflicting Classifications	CA3202732	rs_77874614	4 SubmittersRCV000246854 RCV000549936 RCV001155773
NM_001369.3(DNAH5):c.8224+15G>A	SNV Germline	Chr5:13793500	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia 3 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA3202871	rs_148099176	4 SubmittersRCV000251149 RCV001157485 RCV002058042
NM_001369.3(DNAH5):c.7753-9C>G	SNV Germline	Chr5:13807734	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia 3 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA3203003	rs_377367981	3 SubmittersRCV000254187 RCV001155873 RCV000861757
NM_001369.3(DNAH5):c.6167A>T (p.Lys2056Ile)	SNV Germline	Chr5:13830108	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia 3 Primary ciliary dyskinesia Condition: not provided	Criteria Provided Conflicting Classifications	CA3203466	rs_578128759	7 SubmittersRCV000245497 RCV001152215 RCV001082173 RCV000487618
NM_001369.3(DNAH5):c.5196G>T (p.Ala1732=)	SNV Germline	Chr5:13844912	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA3203765	rs_201484389	5 SubmittersRCV000245538 RCV000475780 RCV001152321 RCV003430803
NM_001369.3(DNAH5):c.4258A>G (p.Asn1420Asp)	SNV Germline	Chr5:13865765	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA3204035	rs_201841311	7 SubmittersRCV000247645 RCV000530786 RCV001153798 RCV001570739
NM_001369.3(DNAH5):c.3777G>A (p.Ala1259=)	SNV Germline	Chr5:13870824	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 3	Criteria Provided Conflicting Classifications	CA3204177	rs_144893234	5 SubmittersRCV000251762 RCV000266448 RCV001095046
NM_001369.3(DNAH5):c.2708A>C (p.Asn903Thr)	SNV Germline	Chr5:13885999	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA3204517	rs_749503841	4 SubmittersRCV000253527 RCV000456241
NM_001369.3(DNAH5):c.2577+5T>C	SNV Germline	Chr5:13890971	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA3204553	rs_201596289	3 SubmittersRCV000249096 RCV002450772
NM_001369.3(DNAH5):c.2443T>A (p.Leu815Met)	SNV Germline	Chr5:13891110	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA3204582	rs_149654950	6 SubmittersRCV000244322 RCV000467062 RCV001154958 RCV003311732
NM_001369.3(DNAH5):c.2067T>C (p.His689=)	SNV Germline	Chr5:13900398	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 3	Criteria Provided Conflicting Classifications	CA3204665	rs_140630779	3 SubmittersRCV000241812 RCV000862148 RCV001151161
NM_001369.3(DNAH5):c.1644+12A>G	SNV Germline	Chr5:13911374	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia 3 not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA3204788	rs_201116549	4 SubmittersRCV000282674 RCV000248964 RCV002058035
NM_001369.3(DNAH5):c.299G>C (p.Gly100Ala)	SNV Germline	Chr5:13923419	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Condition: not provided Primary ciliary dyskinesia 3	Criteria Provided Conflicting Classifications	CA3205215	rs_144236383	8 SubmittersRCV000244963 RCV000344003 RCV000514353 RCV001094959
NM_001369.3(DNAH5):c.-8C>T	SNV Germline	Chr5:13944446	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia 3	Criteria Provided Conflicting Classifications	CA3205318	rs_199528866	2 SubmittersRCV000250662 RCV001154439
NM_001010892.3(RSPH4A):c.675G>T (p.Ser225=)	SNV Germline	Chr6:116617298	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA3970804	rs_79327004	4 SubmittersRCV000243411 RCV000287901
NM_001010892.3(RSPH4A):c.1563T>C (p.Asn521=)	SNV Germline	Chr6:116628270	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 11	Criteria Provided Conflicting Classifications	CA3970973	rs_143732959	4 SubmittersRCV000253470 RCV002401956 RCV001154592
NM_001277115.2(DNAH11):c.982+8T>A	SNV Germline	Chr7:21561178	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 7	Criteria Provided Conflicting Classifications	CA4178834	rs_72655978	3 SubmittersRCV000244153 RCV001491307 RCV002466480
NM_001277115.2(DNAH11):c.1053G>A (p.Glu351=)	SNV Germline	Chr7:21564256	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified	Criteria Provided Conflicting Classifications	CA4178888	rs_201475447	4 SubmittersRCV000391804 RCV000243349
NM_001277115.2(DNAH11):c.1535T>A (p.Met512Lys)	SNV Germline	Chr7:21571915	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA4179009	rs_72655984	4 SubmittersRCV000245838 RCV000266584
NM_001277115.2(DNAH11):c.2380G>A (p.Glu794Lys)	SNV Germline	Chr7:21591290	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified Condition: not provided Primary ciliary dyskinesia 7	Criteria Provided Conflicting Classifications	CA4179322	rs_78653098	5 SubmittersRCV000341951 RCV000248365 RCV003437039 RCV005230196
NM_001277115.2(DNAH11):c.2783A>T (p.Asp928Val)	SNV Germline	Chr7:21599902	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Condition: not provided DNAH11-related disorder	Criteria Provided Conflicting Classifications	CA4179433	rs_201386161	4 SubmittersRCV000459210 RCV001567623 RCV004529427
NM_001277115.2(DNAH11):c.3425+5C>G	SNV Germline	Chr7:21601184	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA4179616	rs_776140118	3 SubmittersRCV000249727 RCV000284098
NM_001277115.2(DNAH11):c.3765C>T (p.Asp1255=)	SNV Germline	Chr7:21606542	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Condition: not provided Primary ciliary dyskinesia 7	Criteria Provided Conflicting Classifications	CA4179731	rs_190062687	5 SubmittersRCV000247553 RCV000629544 RCV001764232 RCV005230197
NM_001277115.2(DNAH11):c.4202A>G (p.Gln1401Arg)	SNV Germline	Chr7:21617725	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Condition: not provided	Criteria Provided Conflicting Classifications	CA4179937	rs_199629774	5 SubmittersRCV000248567 RCV000274005 RCV003437040
NM_001277115.2(DNAH11):c.4491G>A (p.Glu1497=)	SNV Germline	Chr7:21620069	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA4180060	rs_564202359	6 SubmittersRCV000247144 RCV000373031 RCV001095255 RCV003437041
NM_001277115.2(DNAH11):c.4945-12T>C	SNV Germline	Chr7:21655820	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA4180251	rs_141572016	4 SubmittersRCV000244624 RCV000295728
NM_001277115.2(DNAH11):c.4945-5T>G	SNV Germline	Chr7:21655827	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Condition: not provided	Criteria Provided Conflicting Classifications	CA10586974	rs_886038468	4 SubmittersRCV000249371 RCV001854956 RCV003327391
NM_001277115.2(DNAH11):c.5359T>C (p.Leu1787=)	SNV Germline	Chr7:21681576	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA4180384	rs_75932225	3 SubmittersRCV000245700 RCV000322077
NM_001277115.2(DNAH11):c.5671C>T (p.Pro1891Ser)	SNV Germline	Chr7:21687148	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Condition: not provided	Criteria Provided Conflicting Classifications	CA4180512	rs_201704416	5 SubmittersRCV000244745 RCV000295597 RCV003437042
NM_001277115.2(DNAH11):c.5734A>G (p.Met1912Val)	SNV Germline	Chr7:21687211	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA10586976	rs_886038470	3 SubmittersRCV000247872 RCV003650557
NM_001277115.2(DNAH11):c.6468+14T>C	SNV Germline	Chr7:21704642	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA4180820	rs_114409690	3 SubmittersRCV000244883 RCV000305188
NM_001277115.2(DNAH11):c.6607T>C (p.Leu2203=)	SNV Germline	Chr7:21707759	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified	Criteria Provided Conflicting Classifications	CA4180908	rs_202012891	3 SubmittersRCV000403052 RCV000247810
NM_001277115.2(DNAH11):c.7266+5G>A	SNV Germline	Chr7:21720861	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 7	Criteria Provided Conflicting Classifications	CA4181151	rs_149364992	3 SubmittersRCV000243794 RCV000865578 RCV001161978
NM_001277115.2(DNAH11):c.7332G>A (p.Pro2444=)	SNV Germline	Chr7:21725876	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 7	Criteria Provided Conflicting Classifications	CA4181194	rs_28370951	5 SubmittersRCV000253318 RCV000342893 RCV005230199
NM_001277115.2(DNAH11):c.7334C>T (p.Ser2445Leu)	SNV Germline	Chr7:21725878	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA4181195	rs_180970138	3 SubmittersRCV000245120 RCV001854957
NM_001277115.2(DNAH11):c.7441-19A>G	SNV Germline	Chr7:21735621	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 7	Criteria Provided Conflicting Classifications	CA4181226	rs_10247099	4 SubmittersRCV000254459 RCV002058024 RCV005230200
NM_001277115.2(DNAH11):c.7626G>T (p.Thr2542=)	SNV Germline	Chr7:21735825	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Condition: not provided Primary ciliary dyskinesia 7	Criteria Provided Conflicting Classifications	CA4181291	rs_2072221	5 SubmittersRCV000250868 RCV000306683 RCV001706327 RCV003114422
NM_001277115.2(DNAH11):c.7765G>A (p.Val2589Ile)	SNV Germline	Chr7:21738820	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA4181340	rs_145239537	4 SubmittersRCV000247417 RCV000393969
NM_001277115.2(DNAH11):c.7812-18C>G	SNV Germline	Chr7:21739553	Conflicting classifications of pathogenicity	not specified Condition: not provided Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA4181369	rs_147865931	6 SubmittersRCV000242330 RCV000514259 RCV002058025
NM_001277115.2(DNAH11):c.8023A>G (p.Ile2675Val)	SNV Germline	Chr7:21742035	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA4181445	rs_72657364	6 SubmittersRCV000251849 RCV000299336 RCV001335807 RCV003437043
NM_001277115.2(DNAH11):c.8299G>A (p.Ala2767Thr)	SNV Germline	Chr7:21744582	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia not specified	Criteria Provided Conflicting Classifications	CA4181535	rs_200628085	3 SubmittersRCV000461622 RCV000243334
NM_001277115.2(DNAH11):c.9925-7T>C	SNV Germline	Chr7:21789234	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA4182175	rs_146815254	3 SubmittersRCV000253709 RCV000280039
NM_001277115.2(DNAH11):c.9939G>A (p.Val3313=)	SNV Germline	Chr7:21789255	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA4182178	rs_200349268	4 SubmittersRCV000250251 RCV000334909
NM_001277115.2(DNAH11):c.10692-7C>T	SNV Germline	Chr7:21842537	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia 7 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA4182463	rs_368833367	3 SubmittersRCV000243689 RCV001162361 RCV000528666
NM_001277115.2(DNAH11):c.10782G>A (p.Pro3594=)	SNV Germline	Chr7:21842634	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA4182487	rs_72657400	7 SubmittersRCV000253596 RCV000366124 RCV005230194 RCV003437038
NM_001277115.2(DNAH11):c.11254G>A (p.Asp3752Asn)	SNV Germline	Chr7:21861904	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA4182680	rs_370395919	3 SubmittersRCV000251097 RCV003650555
NM_001277115.2(DNAH11):c.11508C>G (p.Val3836=)	SNV Germline	Chr7:21866481	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia 7 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA4182784	rs_199627577	4 SubmittersRCV000251723 RCV001159576 RCV002450771
NM_001277115.2(DNAH11):c.11805G>A (p.Pro3935=)	SNV Germline	Chr7:21867973	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA4182873	rs_187489343	4 SubmittersRCV000252058 RCV000391629
NM_001277115.2(DNAH11):c.12505C>T (p.Leu4169=)	SNV Germline	Chr7:21884408	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia 7 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA4183095	rs_764262245	4 SubmittersRCV000249701 RCV001159688 RCV002518608
NM_001277115.2(DNAH11):c.13076G>A (p.Arg4359Gln)	SNV Germline	Chr7:21899362	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Condition: not provided	Criteria Provided Conflicting Classifications	CA4183287	rs_113653972	6 SubmittersRCV000247626 RCV000300965 RCV003333965
NM_001277115.2(DNAH11):c.13257A>G (p.Gly4419=)	SNV Germline	Chr7:21900074	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA4183381	rs_200445638	5 SubmittersRCV000243241 RCV000360205 RCV005230195 RCV002058016
NM_001277115.2(DNAH11):c.13278A>G (p.Ala4426=)	SNV Germline	Chr7:21900095	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA4183390	rs_773266815	2 SubmittersRCV000253177 RCV000685303
NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=)	SNV Germline	Chr7:21901008	Conflicting classifications of pathogenicity	not specified Condition: not provided Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA4183448	rs_150682314	8 SubmittersRCV000245209 RCV000726713 RCV000325201
NM_001277115.2(DNAH11):c.13548G>A (p.Ala4516=)	SNV Germline	Chr7:21901251	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 7	Criteria Provided Conflicting Classifications	CA4183522	rs_147454485	4 SubmittersRCV000250463 RCV000861860 RCV001164820
NM_012472.6(DNAAF11):c.1391C>T (p.Pro464Leu)	SNV Germline	Chr8:132572316	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia 19 Primary ciliary dyskinesia Condition: not provided Multiple sclerosis, susceptibility to	Criteria Provided Conflicting Classifications	CA4881072	rs_139131485	7 SubmittersRCV000243911 RCV001085911 RCV002461049 RCV000767176 RCV001823000
NM_012472.6(DNAAF11):c.1245A>G (p.Lys415=)	SNV Germline	Chr8:132572462	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia 19 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA4881092	rs_149631064	4 SubmittersRCV000247518 RCV000526419 RCV002461047
NM_012472.6(DNAAF11):c.1162G>A (p.Gly388Ser)	SNV Germline	Chr8:132583758	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 19 Condition: not provided	Criteria Provided Conflicting Classifications	CA4881135	rs_77289466	6 SubmittersRCV000252589 RCV000391294 RCV000551113 RCV002285295
NM_012472.6(DNAAF11):c.408A>G (p.Val136=)	SNV Germline	Chr8:132637956	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia 19	Criteria Provided Conflicting Classifications	CA4881390	rs_762081490	3 SubmittersRCV000243610 RCV001164737
NM_012144.4(DNAI1):c.180G>A (p.Ala60=)	SNV Germline	Chr9:34485240	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Condition: not provided DNAI1-related disorder Kartagener syndrome	Criteria Provided Conflicting Classifications	CA5033945	rs_201120508	6 SubmittersRCV000538706 RCV001753725 RCV004584648 RCV005044504
NM_018139.3(DNAAF2):c.1494G>A (p.Ser498=)	SNV Germline	Chr14:49633656	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 10 Condition: not provided	Criteria Provided Conflicting Classifications	CA7172901	rs_2985688	7 SubmittersRCV000241963 RCV000354512 RCV001094152 RCV003884437
NM_018139.3(DNAAF2):c.384C>A (p.Gly128=)	SNV Germline	Chr14:49634766	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia 10 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA7173121	rs_200484042	3 SubmittersRCV000251344 RCV001112304 RCV001418278
NM_018139.3(DNAAF2):c.58G>C (p.Val20Leu)	SNV Germline	Chr14:49635092	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA7173165	rs_572322476	3 SubmittersRCV000253494 RCV000792505
NM_031427.4(DNAL1):c.43-4A>G	SNV Germline	Chr14:73658843	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia 16	Criteria Provided Conflicting Classifications	CA7261409	rs_748496499	2 SubmittersRCV000250498 RCV000557911
NM_178452.6(DNAAF1):c.507G>C (p.Leu169=)	SNV Germline	Chr16:84154731	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia 13 not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA8202513	rs_370128838	5 SubmittersRCV000313239 RCV000247163 RCV001443438
NM_178452.6(DNAAF1):c.1227T>G (p.Gly409=)	SNV Germline	Chr16:84170055	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia 13 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA8202795	rs_148674729	5 SubmittersRCV000248811 RCV001116985 RCV000460139
NM_178452.6(DNAAF1):c.1299C>T (p.Asp433=)	SNV Germline	Chr16:84170127	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 13	Criteria Provided Conflicting Classifications	CA8202818	rs_141074491	4 SubmittersRCV000245365 RCV000477474 RCV001120252
NM_178452.6(DNAAF1):c.1496C>T (p.Pro499Leu)	SNV Germline	Chr16:84170324	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 13	Criteria Provided Conflicting Classifications	CA8202873	rs_112114400	4 SubmittersRCV000250607 RCV000476717 RCV001120554
NM_178452.6(DNAAF1):c.1718T>C (p.Ile573Thr)	SNV Germline	Chr16:84175952	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Condition: not provided	Criteria Provided Conflicting Classifications	CA8203017	rs_137862641	3 SubmittersRCV000251600 RCV000861555 RCV002285301
NM_023036.6(DNAI2):c.43G>A (p.Gly15Arg)	SNV Germline	Chr17:74281860	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA8745232	rs_758997612	2 SubmittersRCV000241834 RCV002518653
NM_023036.6(DNAI2):c.754G>A (p.Val252Met)	SNV Germline	Chr17:74299747	Conflicting classifications of pathogenicity	not specified Condition: not provided Primary ciliary dyskinesia Primary ciliary dyskinesia 9	Criteria Provided Conflicting Classifications	CA8745484	rs_140326154	8 SubmittersRCV000253831 RCV000724929 RCV001257056 RCV001124101
NM_023036.6(DNAI2):c.1380G>T (p.Val460=)	SNV Germline	Chr17:74310049	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 9	Criteria Provided Conflicting Classifications	CA8745767	rs_148947094	4 SubmittersRCV000249578 RCV000471278 RCV001123105
NM_023036.6(DNAI2):c.1715C>T (p.Pro572Leu)	SNV Germline	Chr17:74312223	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia 9 not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA8745871	rs_151241589	7 SubmittersRCV000660505 RCV000253780 RCV000629582
NM_017950.4(CCDC40):c.384A>G (p.Ala128=)	SNV Germline	Chr17:80040102	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia 15 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA8813428	rs_375586063	4 SubmittersRCV000246104 RCV001122017 RCV000866028
NM_017950.4(CCDC40):c.470C>T (p.Thr157Ile)	SNV Germline	Chr17:80040188	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA8813446	rs_755159452	2 SubmittersRCV000251033 RCV002328746
NM_017950.4(CCDC40):c.850G>C (p.Asp284His)	SNV Germline	Chr17:80048756	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 15 Male infertility Condition: not provided	Criteria Provided Conflicting Classifications	CA8813582	rs_201042940	8 SubmittersRCV000244307 RCV000399959 RCV001094519 RCV001283738 RCV001544955
NM_017950.4(CCDC40):c.856-18G>A	SNV Germline	Chr17:80049888	Conflicting classifications of pathogenicity	not specified Condition: not provided Primary ciliary dyskinesia Primary ciliary dyskinesia 15	Criteria Provided Conflicting Classifications	CA8813605	rs_189118723	4 SubmittersRCV000248873 RCV000514712 RCV002058281 RCV005230208
NM_017950.4(CCDC40):c.1531G>C (p.Glu511Gln)	SNV Germline	Chr17:80065575	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA8813877	rs_59978698	2 SubmittersRCV000250370 RCV002401959
NM_017950.4(CCDC40):c.2227G>A (p.Glu743Lys)	SNV Germline	Chr17:80084980	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia 15 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA8814135	rs_201166295	5 SubmittersRCV000252684 RCV001122216 RCV000861600
NM_017950.4(CCDC40):c.2251C>A (p.Pro751Thr)	SNV Germline	Chr17:80086018	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 15	Criteria Provided Conflicting Classifications	CA8814156	rs_141343307	5 SubmittersRCV000243481 RCV000370474 RCV001094509
NM_017950.4(CCDC40):c.2332C>T (p.Leu778=)	SNV Germline	Chr17:80086099	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 15	Criteria Provided Conflicting Classifications	CA8814172	rs_202075842	4 SubmittersRCV000243354 RCV000262762 RCV001094512
NM_017950.4(CCDC40):c.2892G>A (p.Ala964=)	SNV Germline	Chr17:80095322	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 15 Condition: not provided	Criteria Provided Conflicting Classifications	CA8814541	rs_146360951	5 SubmittersRCV000242772 RCV000345223 RCV001094547 RCV003422177
NM_017950.4(CCDC40):c.2900G>A (p.Arg967His)	SNV Germline	Chr17:80095330	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 15 Condition: not provided	Criteria Provided Conflicting Classifications	CA8814543	rs_61686936	7 SubmittersRCV000247767 RCV000400322 RCV001094548 RCV001549870
NM_017950.4(CCDC40):c.3027C>T (p.Thr1009=)	SNV Germline	Chr17:80097250	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 15	Criteria Provided Conflicting Classifications	CA8814610	rs_79588289	4 SubmittersRCV000248815 RCV000465786 RCV001122310
NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile)	SNV Germline	Chr17:80097269	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 15 Condition: not provided	Criteria Provided Conflicting Classifications	CA8814614	rs_117307093	9 SubmittersRCV000243717 RCV000355943 RCV001094515 RCV001573244
NM_017950.4(CCDC40):c.3109C>G (p.Leu1037Val)	SNV Germline	Chr17:80097332	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA10587286	rs_886038640	2 SubmittersRCV000249092 RCV000629501
NM_017950.4(CCDC40):c.*17C>T	SNV Germline	Chr17:80099792	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia 15	Criteria Provided Conflicting Classifications	CA8814736	rs_202179507	2 SubmittersRCV000252037 RCV001126070
NM_001364171.2(ODAD1):c.1481C>T (p.Pro494Leu)	SNV Germline	Chr19:48298021	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Condition: not provided	Criteria Provided Conflicting Classifications	CA9548682	rs_148823991	6 SubmittersRCV000243117 RCV000477535 RCV003422182
NM_001364171.2(ODAD1):c.626G>A (p.Ser209Asn)	SNV Germline	Chr19:48306295	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Condition: not provided Fraser syndrome 3	Criteria Provided Conflicting Classifications	CA9549015	rs_367799104	5 SubmittersRCV000250979 RCV001241549 RCV003314585 RCV001251019
NM_001369.3(DNAH5):c.10441C>T (p.Arg3481Ter)	SNV Germline	Chr5:13754317	Pathogenic/Likely pathogenic	Condition: not provided Primary ciliary dyskinesia Primary ciliary dyskinesia 3	Criteria Provided Multiple Submitters No Conflicts	CA10588392	rs_886039500	7 SubmittersRCV000255126 RCV001216552 RCV003137869
NM_001277115.2(DNAH11):c.5924+1G>C	SNV Germline	Chr7:21687528	Pathogenic	Primary ciliary dyskinesia Condition: not provided DNAH11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10588422	rs_886039340	3 SubmittersRCV000629338 RCV000255847 RCV004535234
NM_001277115.2(DNAH11):c.10691+2T>C	SNV Germline	Chr7:21818341	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia 7 Condition: not provided Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA10588423	rs_886039341	3 SubmittersRCV000778827 RCV000254927 RCV002518749
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu)	SNV Germline	Chr5:13780935	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia 3 Primary ciliary dyskinesia See cases	Criteria Provided Conflicting Classifications	CA3202691	rs_147688221	13 SubmittersRCV000405261 RCV000665445 RCV001084271 RCV004584378
NM_001277115.2(DNAH11):c.9499A>C (p.Thr3167Pro)	SNV Germline	Chr7:21784442	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia Primary ciliary dyskinesia 7	Criteria Provided Conflicting Classifications	CA4182012	rs_202224167	6 SubmittersRCV000394667 RCV000538754 RCV003144190
NM_001034853.2(RPGR):c.1709C>T (p.Thr570Met)	SNV Germline	ChrX:38287905	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA10385419	rs_202154504	2 SubmittersRCV000367495 RCV002518820
NM_001277115.2(DNAH11):c.12509C>G (p.Thr4170Ser)	SNV Germline	Chr7:21892426	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia Primary ciliary dyskinesia 7	Criteria Provided Conflicting Classifications	CA4183111	rs_12537531	3 SubmittersRCV000279310 RCV001078867 RCV001161099
NM_017950.4(CCDC40):c.855+4A>G	SNV Germline	Chr17:80048765	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA8813586	rs_138001923	2 SubmittersRCV000351781 RCV001087054
NM_001256715.2(DNAAF3):c.1251C>T (p.Asp417=)	SNV Germline	Chr19:55159437	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA9667817	rs_779990994	3 SubmittersRCV000383745 RCV003535682
NM_178452.6(DNAAF1):c.735C>T (p.Pro245=)	SNV Germline	Chr16:84155743	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA8202584	rs_139566676	3 SubmittersRCV000368296 RCV001084792
NM_001277115.2(DNAH11):c.1220A>C (p.Asp407Ala)	SNV Germline	Chr7:21570094	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia Primary ciliary dyskinesia 7	Criteria Provided Conflicting Classifications	CA4178937	rs_780042783	4 SubmittersRCV000333546 RCV003650567 RCV005230226
NM_001277115.2(DNAH11):c.9706C>T (p.Arg3236Ter)	SNV Germline	Chr7:21786732	Pathogenic/Likely pathogenic	Condition: not provided Primary ciliary dyskinesia 7	Criteria Provided Multiple Submitters No Conflicts	CA4182077	rs_753101269	2 SubmittersRCV000386396 RCV005252857
NM_017950.4(CCDC40):c.2911G>A (p.Val971Ile)	SNV Germline	Chr17:80095341	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Condition: not provided	Criteria Provided Conflicting Classifications	CA8814549	rs_746632559	4 SubmittersRCV000476575 RCV000725355
NM_001277115.2(DNAH11):c.571C>T (p.His191Tyr)	SNV Germline	Chr7:21558877	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA4178716	rs_562163349	2 SubmittersRCV000279404 RCV001314631
NM_001369.3(DNAH5):c.8925C>T (p.Tyr2975=)	SNV Germline	Chr5:13780855	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA3202673	rs_755490391	3 SubmittersRCV000357836 RCV001088517
NM_001369.3(DNAH5):c.8030G>A (p.Arg2677Gln)	SNV Germline	Chr5:13793709	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia Primary ciliary dyskinesia 3	Criteria Provided Conflicting Classifications	CA10605536	rs_886043448	5 SubmittersRCV000369132 RCV000558292 RCV001257434
NM_178452.6(DNAAF1):c.1567G>A (p.Val523Ile)	SNV Germline	Chr16:84172298	Conflicting classifications of pathogenicity	not specified Primary ciliary dyskinesia Primary ciliary dyskinesia 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA8202922	rs_148387367	5 SubmittersRCV000311050 RCV000403609 RCV001094260 RCV002244736
NM_001256715.2(DNAAF3):c.1256G>A (p.Arg419Gln)	SNV Germline	Chr19:55159432	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA9667814	rs_373489149	3 SubmittersRCV000360264 RCV001087282
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln)	SNV Germline	Chr5:13864632	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia 3 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA3203993	rs_542708170	7 SubmittersRCV000266533 RCV000477841 RCV001247795
NM_001277115.2(DNAH11):c.9572C>T (p.Thr3191Ile)	SNV Germline	Chr7:21784515	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA4182028	rs_760597183	2 SubmittersRCV000286665 RCV003650571
NM_003611.3(OFD1):c.276T>C (p.Ser92=)	SNV Germline	ChrX:13736642	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Orofaciodigital syndrome I OFD1-related disorder Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA10351553	rs_201675886	4 SubmittersRCV000334639 RCV002059241 RCV004535414 RCV004021254
NM_017950.4(CCDC40):c.2968G>A (p.Asp990Asn)	SNV Germline	Chr17:80095398	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia Primary ciliary dyskinesia 15 CCDC40-related disorder	Criteria Provided Conflicting Classifications	CA8814566	rs_200958035	5 SubmittersRCV000397708 RCV001082104 RCV001122308 RCV003977801
NM_001369.3(DNAH5):c.10784C>T (p.Thr3595Met)	SNV Germline	Chr5:13753321	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA10606127	rs_886043929	3 SubmittersRCV000312632 RCV003352823
NM_012144.4(DNAI1):c.1703G>C (p.Trp568Ser)	SNV Germline	Chr9:34514527	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia Kartagener syndrome	Criteria Provided Conflicting Classifications	CA5034499	rs_772686744	5 SubmittersRCV000379019 RCV000539548 RCV005044547
NM_001277115.2(DNAH11):c.4818-2A>G	SNV Germline	Chr7:21638937	Pathogenic/Likely pathogenic	Condition: not provided Primary ciliary dyskinesia	Criteria Provided Multiple Submitters No Conflicts	CA10606412	rs_886044152	2 SubmittersRCV000384183 RCV005090394
NM_001277115.2(DNAH11):c.6727C>T (p.Arg2243Ter)	SNV Germline	Chr7:21710596	Pathogenic	Primary ciliary dyskinesia 7 Primary ciliary dyskinesia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA4180969	rs_201943194	9 SubmittersRCV000289819 RCV000461399 RCV000726312
NM_001034853.2(RPGR):c.1387C>T (p.Gln463Ter)	SNV Germline	ChrX:38297311	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Primary ciliary dyskinesia	Criteria Provided Multiple Submitters No Conflicts	CA10606591	rs_886044302	3 SubmittersRCV000395068 RCV001074090 RCV002518106
NM_001364171.2(ODAD1):c.1222C>A (p.Leu408Met)	SNV Germline	Chr19:48302712	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA9548778	rs_150271983	3 SubmittersRCV000303948 RCV001220709
NM_001364171.2(ODAD1):c.361-10T>C	SNV Germline	Chr19:48312126	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA9549058	rs_141961809	2 SubmittersRCV000360978 RCV001087518
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.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 SubmittersRCV000335489 RCV002057870
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 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	2 SubmittersRCV000380806 RCV003114503
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 SubmittersRCV000601626 RCV000404264 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 CCDC39-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA2716064	rs_61733577	5 SubmittersRCV000270726 RCV001094895 RCV003972455 RCV002259338
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_001369.3(DNAH5):c.13817C>A (p.Ala4606Asp)	SNV Germline	Chr5:13692042	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia 3 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA3201233	rs_770244453	3 SubmittersRCV000294020 RCV002520312
NM_001369.3(DNAH5):c.10640G>A (p.Arg3547Gln)	SNV Germline	Chr5:13753465	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia 3 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA3202164	rs_779977337	2 SubmittersRCV000331162 RCV002520317
NM_001369.3(DNAH5):c.10066T>C (p.Leu3356=)	SNV Germline	Chr5:13766011	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia DNAH5-related disorder Primary ciliary dyskinesia 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA3202341	rs_138441172	6 SubmittersRCV000343231 RCV003912495 RCV001095009 RCV005256602
NM_001369.3(DNAH5):c.10036A>G (p.Thr3346Ala)	SNV Germline	Chr5:13766041	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 3	Criteria Provided Conflicting Classifications	CA3202347	rs_141971313	5 SubmittersRCV000401175 RCV001095070
NM_001369.3(DNAH5):c.8726G>A (p.Arg2909His)	SNV Germline	Chr5:13786273	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia 3 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA3202756	rs_756069405	3 SubmittersRCV000370323 RCV001255318
NM_001369.3(DNAH5):c.8725C>T (p.Arg2909Cys)	SNV Germline	Chr5:13786274	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia 3 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA3202757	rs_369744828	2 SubmittersRCV000273353 RCV002520318
NM_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg)	SNV Germline	Chr5:13793944	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Primary ciliary dyskinesia 3 Condition: not provided DNAH5-related disorder	Criteria Provided Conflicting Classifications	CA3202939	rs_147236883	8 SubmittersRCV000378200 RCV001094982 RCV000591046 RCV003932438
NM_001369.3(DNAH5):c.7923T>G (p.Gly2641=)	SNV Germline	Chr5:13794023	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia 3 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA3202953	rs_748304927	2 SubmittersRCV000281416 RCV001501472
NM_001369.3(DNAH5):c.7452C>A (p.Phe2484Leu)	SNV Germline	Chr5:13810216	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia 3 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA3203090	rs_561666802	2 SubmittersRCV000279808 RCV002520319
NM_001369.3(DNAH5):c.7206C>A (p.Ile2402=)	SNV Germline	Chr5:13814629	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia 3 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA10619106	rs_747529694	2 SubmittersRCV000368778 RCV002061254

NM_178452.6(DNAAF1):c.811C>T (p.Arg271Ter)

SNV
Germline

Chr16:84159744

Pathogenic

Primary ciliary dyskinesia 13
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA339807

rs_267607225

3 SubmittersRCV000000288 RCV000556400

NM_178452.6(DNAAF1):c.792C>A (p.Tyr264Ter)

SNV
Germline

Chr16:84159725

Pathogenic

Primary ciliary dyskinesia 13
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA251402

rs_267607226

4 SubmittersRCV000000289 RCV001063639

NM_178452.6(DNAAF1):c.524T>G (p.Leu175Arg)

SNV
Germline

Chr16:84154748

Pathogenic

Primary ciliary dyskinesia 13
Kartagener syndrome

No Assertion Criteria Provided

CA339809

rs_267607227

2 SubmittersRCV000000291 RCV000190914

NM_001010892.3(RSPH4A):c.460C>T (p.Gln154Ter)

SNV
Germline

Chr6:116617083

Pathogenic

Primary ciliary dyskinesia 11
Primary ciliary dyskinesia
Respiratory ciliopathies including non-CF bronchiectasis

Criteria Provided
Multiple Submitters
No Conflicts

CA339817

rs_118204041

4 SubmittersRCV000000532 RCV000226196 RCV005252651

NM_001010892.3(RSPH4A):c.325C>T (p.Gln109Ter)

SNV
Germline

Chr6:116616948

Pathogenic

Primary ciliary dyskinesia 11
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA339819

rs_118204042

3 SubmittersRCV000000533 RCV000473371

NM_001010892.3(RSPH4A):c.1468C>T (p.Arg490Ter)

SNV
Germline

Chr6:116628175

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia 11
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA339821

rs_118204043

4 SubmittersRCV000000534 RCV000525090

NM_018139.3(DNAAF2):c.23C>A (p.Ser8Ter)

SNV
Germline

Chr14:49635127

Pathogenic

Primary ciliary dyskinesia 10
Kartagener syndrome

No Assertion Criteria Provided

CA251489

rs_137853191

2 SubmittersRCV000000559 RCV000190866

NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)

SNV
Germline

Chr19:12897824

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1
Condition: not provided
Abnormality of metabolism/homeostasis
Primary ciliary dyskinesia 29
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA252097

rs_121434369

24 SubmittersRCV000002166 RCV000255833 RCV001813936 RCV003447469 RCV002512670

NM_023036.6(DNAI2):c.1494+1G>A

SNV
Germline

Chr17:74310164

Pathogenic

Primary ciliary dyskinesia 9
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA293863657

rs_397515565

5 SubmittersRCV000005241 RCV001383568 RCV004719624

NM_023036.6(DNAI2):c.346-3T>G

SNV
Germline

Chr17:74286974

Pathogenic

Primary ciliary dyskinesia 9
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253357

rs_397515358

3 SubmittersRCV000005242 RCV001385859 RCV004719625

NM_023036.6(DNAI2):c.787C>T (p.Arg263Ter)

SNV
Germline

Chr17:74299780

Pathogenic

Primary ciliary dyskinesia 9
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340319

rs_137852998

5 SubmittersRCV000005243 RCV000810716 RCV004719626

NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser)

SNV
Germline

Chr9:34513165

Pathogenic/Likely pathogenic

Kartagener syndrome
Primary ciliary dyskinesia
DNAI1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA253533

rs_79833450

7 SubmittersRCV000005956 RCV000468431 RCV003407285

NM_001277115.2(DNAH11):c.8533C>T (p.Arg2845Ter)

SNV
Germline

Chr7:21748602

Pathogenic

Primary ciliary dyskinesia 7
CILIARY DYSKINESIA, PRIMARY, 7, WITH SITUS INVERSUS

Criteria Provided
Single Submitter

CA340592

rs_121908854

3 SubmittersRCV000006847 RCV000590992

NM_001277115.2(DNAH11):c.12363C>G (p.Tyr4121Ter)

SNV
Germline

Chr7:21880869

Pathogenic

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA340594

rs_121908855

5 SubmittersRCV000006848 RCV002362568

NM_001369.3(DNAH5):c.10555G>C (p.Gly3519Arg)

SNV
Germline

Chr5:13754203

Likely pathogenic

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA253865

rs_79967166

2 SubmittersRCV000006851 RCV001851706

NM_001369.3(DNAH5):c.1828C>T (p.Gln610Ter)

SNV
Germline

Chr5:13901476

Pathogenic

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA253866

rs_121908853

3 SubmittersRCV000006853 RCV001851707

NM_001034853.2(RPGR):c.823G>A (p.Gly275Ser)

SNV
Germline

ChrX:38304746

Pathogenic

Retinitis pigmentosa 3
Condition: not provided
Retinitis pigmentosa
Primary ciliary dyskinesia
RPGR-related retinopathy

Reviewed By Expert Panel

CA226447

rs_62642057

5 SubmittersRCV000010577 RCV000085125 RCV001003203 RCV002512961 RCV005415397

NM_001034853.2(RPGR):c.179G>T (p.Gly60Val)

SNV
Germline

ChrX:38322921

Likely pathogenic

Retinitis pigmentosa 3
Condition: not provided
Primary ciliary dyskinesia
Retinal dystrophy
RPGR-related disorder
RPGR-related retinopathy

Reviewed By Expert Panel

CA226376

rs_62638634

8 SubmittersRCV000010580 RCV000085072 RCV000822760 RCV001074755 RCV004755727 RCV005415398

NM_001034853.2(RPGR):c.2650G>T (p.Glu884Ter)

SNV
Germline

ChrX:38286349

Pathogenic

Retinitis pigmentosa 3
Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA254931

rs_137852549

3 SubmittersRCV000010586 RCV002464059 RCV003534308

NM_031427.4(DNAL1):c.449A>G (p.Asn150Ser)

SNV
Germline

Chr14:73689432

Pathogenic

Primary ciliary dyskinesia 16
Kartagener syndrome

No Assertion Criteria Provided

CA342751

rs_387907021

2 SubmittersRCV000023801 RCV000190934

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 SubmittersRCV000024061 RCV000199155 RCV001092443 RCV001327942 RCV003914861

NM_017950.4(CCDC40):c.1951C>T (p.Gln651Ter)

SNV
Germline

Chr17:80082020

Pathogenic

Primary ciliary dyskinesia 15
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA259987

rs_387907092

2 SubmittersRCV000024065 RCV000629328

NM_017950.4(CCDC40):c.1345C>T (p.Arg449Ter)

SNV
Germline

Chr17:80058885

Pathogenic

Primary ciliary dyskinesia 15
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA259989

rs_387907093

4 SubmittersRCV000024066 RCV001065148

NM_001256715.2(DNAAF3):c.182T>C (p.Leu61Pro)

SNV
Germline

Chr19:55165904

Pathogenic

Primary ciliary dyskinesia 2

Criteria Provided
Single Submitter

CA025062

rs_387907151

2 SubmittersRCV000024243

NM_001256715.2(DNAAF3):c.265C>T (p.Arg89Ter)

SNV
Germline

Chr19:55165427

Pathogenic

Primary ciliary dyskinesia 2
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA025069

rs_387907152

5 SubmittersRCV000024244 RCV000629507 RCV004719662

NM_001277115.2(DNAH11):c.8698C>T (p.Arg2900Ter)

SNV
Germline

Chr7:21749702

Pathogenic

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA260569

rs_368260932

7 SubmittersRCV000030676 RCV000230314 RCV002291548

NM_001364171.2(ODAD1):c.853G>A (p.Ala285Thr)

SNV
Germline

Chr19:48303953

Pathogenic

Primary ciliary dyskinesia 20
Kartagener syndrome
Primary ciliary dyskinesia
Condition: not provided
ODAD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA130413

rs_147718607

14 SubmittersRCV000032837 RCV000190918 RCV000231978 RCV001579702 RCV004754279

NM_001364171.2(ODAD1):c.597+1G>A

SNV
Germline

Chr19:48311552

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia 20
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA130416

rs_606231238

5 SubmittersRCV000032838 RCV001387740 RCV004719668

NM_001364171.2(ODAD1):c.598-2A>G

SNV
Germline

Chr19:48306325

Pathogenic

Primary ciliary dyskinesia 20
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA130417

rs_606231239

3 SubmittersRCV000032839 RCV001213308 RCV001093250

NM_001364171.2(ODAD1):c.1502+5G>A

SNV
Germline

Chr19:48297995

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia 20
Primary ciliary dyskinesia
Condition: not provided
ODAD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA130418

rs_201133219

6 SubmittersRCV000032840 RCV000629509 RCV001093249 RCV004754280

NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr)

SNV
Germline

Chr5:13916424

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA261198

rs_147499872

12 SubmittersRCV000032855 RCV000228082 RCV000523858

NM_001369.3(DNAH5):c.3139G>A (p.Gly1047Arg)

SNV
Germline

Chr5:13882939

Pathogenic

Primary ciliary dyskinesia 3

No Assertion Criteria Provided

CA3204385

rs_751785066

1 SubmittersRCV000032856

NM_017802.4(DNAAF5):c.2384T>C (p.Leu795Pro)

SNV
Germline

Chr7:780097

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia 18
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA343807

rs_397514561

4 SubmittersRCV000032886 RCV000629303 RCV002273938

NM_001270974.2(HYDIN):c.3985G>T (p.Val1329Leu)

SNV
Germline

Chr16:70988133

Pathogenic

Primary ciliary dyskinesia 5

No Assertion Criteria Provided

CA261200

rs_397515413

1 SubmittersRCV000032900

NM_001270974.2(HYDIN):c.922A>T (p.Lys308Ter)

SNV
Germline

Chr16:71137272

Pathogenic

Primary ciliary dyskinesia 5

No Assertion Criteria Provided

CA261202

rs_397515414

1 SubmittersRCV000032901

NM_012472.6(DNAAF11):c.574C>T (p.Gln192Ter)

SNV
Germline

Chr8:132632819

Pathogenic

Primary ciliary dyskinesia 19

Criteria Provided
Single Submitter

CA343815

rs_141945265

3 SubmittersRCV000033017

NM_012472.6(DNAAF11):c.436G>C (p.Asp146His)

SNV
Germline

Chr8:132632957

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia 19
Heterotaxy
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA343819

rs_200321595

10 SubmittersRCV000033020 RCV001731475 RCV002460894 RCV004696644

NM_145038.5(DRC1):c.2056A>T (p.Lys686Ter)

SNV
Germline

Chr2:26454783

Pathogenic

Primary ciliary dyskinesia 21

No Assertion Criteria Provided

CA214694

rs_587776997

1 SubmittersRCV000049260

NM_145038.5(DRC1):c.352C>T (p.Gln118Ter)

SNV
Germline

Chr2:26421396

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia 21
Primary ciliary dyskinesia
Condition: not provided
not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 21
DRC1-related disorder
Spermatogenic failure 80

Criteria Provided
Multiple Submitters
No Conflicts

CA214697

rs_142371860

10 SubmittersRCV000049261 RCV000549203 RCV000725468 RCV000825030 RCV002254519 RCV004752736 RCV005394285

NM_001270974.2(HYDIN):c.3786-1G>T

SNV
Germline

Chr16:70991397

Pathogenic

Primary ciliary dyskinesia 5

No Assertion Criteria Provided

CA264787

rs_373501414

1 SubmittersRCV000055663

NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr)

SNV
Germline

Chr5:13902053

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
Condition: not provided
Respiratory ciliopathies including non-CF bronchiectasis

Criteria Provided
Multiple Submitters
No Conflicts

CA344956

rs_397515541

8 SubmittersRCV000055850 RCV000629262 RCV004700356 RCV005430957

NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp)

SNV
Germline

Chr9:34513112

Pathogenic/Likely pathogenic

Kartagener syndrome
Primary ciliary dyskinesia
DNAI1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA345040

rs_376252276

6 SubmittersRCV000055932 RCV000536539 RCV003390758

NM_012144.4(DNAI1):c.2001+1G>A

SNV
Germline

Chr9:34517468

Pathogenic/Likely pathogenic

Kartagener syndrome
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA345043

rs_397515563

3 SubmittersRCV000055933 RCV000698002 RCV000592856

NM_015896.4(ZMYND10):c.47T>G (p.Val16Gly)

SNV
Germline

Chr3:50345533

Pathogenic

Primary ciliary dyskinesia 22
Kartagener syndrome
Primary ciliary dyskinesia
Condition: not provided
ZMYND10-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA214439

rs_138815960

11 SubmittersRCV000056264 RCV000190919 RCV000459281 RCV001090588 RCV004754290

NM_015896.4(ZMYND10):c.967C>T (p.Gln323Ter)

SNV
Germline

Chr3:50342047

Pathogenic

Primary ciliary dyskinesia 22
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA214442

rs_397515460

2 SubmittersRCV000056267 RCV005089464

NM_015896.4(ZMYND10):c.797T>C (p.Leu266Pro)

SNV
Germline

Chr3:50342473

Pathogenic

Primary ciliary dyskinesia 22
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA214445

rs_200913791

2 SubmittersRCV000056269 RCV000468778

NM_012472.6(DNAAF11):c.562C>T (p.Gln188Ter)

SNV
Germline

Chr8:132632831

Pathogenic

Primary ciliary dyskinesia 19

Criteria Provided
Single Submitter

CA144829

rs_397515461

2 SubmittersRCV000056271

NM_018076.5(ODAD2):c.2780T>G (p.Leu927Trp)

SNV
Germline

Chr10:27862453

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia 23
Kartagener syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA214765

rs_587777047

4 SubmittersRCV000056284 RCV000190922

NM_018076.5(ODAD2):c.2675C>A (p.Ser892Ter)

SNV
Germline

Chr10:27862558

Pathogenic

Primary ciliary dyskinesia 23

Criteria Provided
Multiple Submitters
No Conflicts

CA214699

rs_587777049

3 SubmittersRCV000056286

NM_080860.4(RSPH1):c.85G>T (p.Glu29Ter)

SNV
Germline

Chr21:42493049

Pathogenic

Primary ciliary dyskinesia 24
Kartagener syndrome
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA144906

rs_138320978

10 SubmittersRCV000057509 RCV000190923 RCV000543760 RCV004791256

NM_080860.4(RSPH1):c.366-3C>A

SNV
Germline

Chr21:42485807

Pathogenic

Primary ciliary dyskinesia 24
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA144908

rs_587777058

2 SubmittersRCV000057510 RCV003534322

NM_080860.4(RSPH1):c.275-2A>C

SNV
Germline

Chr21:42486463

Pathogenic

Primary ciliary dyskinesia 24
Kartagener syndrome
Primary ciliary dyskinesia
Condition: not provided
RSPH1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA144911

rs_151107532

14 SubmittersRCV000057512 RCV000190924 RCV000467674 RCV000726589 RCV003974945

NM_152732.5(RSPH9):c.52C>T (p.Gln18Ter)

SNV
Germline

Chr6:43645150

Pathogenic

Primary ciliary dyskinesia 12

No Assertion Criteria Provided

CA264807

rs_397515488

1 SubmittersRCV000057517

NM_130810.4(DNAAF4):c.808C>T (p.Arg270Ter)

SNV
Germline

Chr15:55439557

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia 25
Condition: not provided
Primary ciliary dyskinesia 25
Dyslexia, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA145164

rs_397515621

4 SubmittersRCV000059318 RCV000726789 RCV002504978

NM_130810.4(DNAAF4):c.325G>T (p.Glu109Ter)

SNV
Germline

Chr15:55491203

Pathogenic

Primary ciliary dyskinesia 25
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA145167

rs_397515622

3 SubmittersRCV000059319 RCV003233100

NM_001369.3(DNAH5):c.11322C>T (p.Ser3774=)

SNV
Germline

Chr5:13737385

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA246964

rs_267600357

4 SubmittersRCV000179659 RCV001485650 RCV003905034

NM_001369.3(DNAH5):c.1612G>A (p.Glu538Lys)

SNV
Germline

Chr5:13911418

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204801

rs_141651575

3 SubmittersRCV000689176

NM_001277115.2(DNAH11):c.7471C>T (p.Arg2491Cys)

SNV
Germline

Chr7:21735670

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181242

rs_267601454

2 SubmittersRCV002971408

NM_003114.5(SPAG1):c.2T>G (p.Met1Arg)

SNV
Germline

Chr8:100162282

Pathogenic

Primary ciliary dyskinesia 28

No Assertion Criteria Provided

CA145290

rs_397518458

1 SubmittersRCV000074363

NM_003114.5(SPAG1):c.2014C>T (p.Gln672Ter)

SNV
Germline

Chr8:100233436

Pathogenic/Likely pathogenic

Autosomal dominant nocturnal frontal lobe epilepsy 5
Kartagener syndrome
Primary ciliary dyskinesia 28
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA145294

rs_201740530

9 SubmittersRCV000074366 RCV000190929 RCV000556639 RCV001255310 RCV002293416

NM_021254.4(CFAP298):c.292C>T (p.Arg98Ter)

SNV
Germline

Chr21:32609853

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia 26
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA021253

rs_143740376

3 SubmittersRCV000074372 RCV001382823

NM_001034853.2(RPGR):c.505G>T (p.Glu169Ter)

SNV
Germline

ChrX:38317430

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA220674

rs_369037463

3 SubmittersRCV000179289 RCV001074291 RCV002514384

NM_001277115.2(DNAH11):c.3853-5C>G

SNV
Germline

Chr7:21615109

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA221634

rs_367628980

5 SubmittersRCV000079618 RCV000393988 RCV002466423 RCV004537328

NM_003611.3(OFD1):c.54A>G (p.Glu18=)

SNV
Germline

ChrX:13735289

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA222228

rs_147114577

6 SubmittersRCV000251169 RCV000723696 RCV001518323 RCV004019554

NM_001034853.2(RPGR):c.1120G>T (p.Glu374Ter)

SNV
Germline

ChrX:38299081

Pathogenic

Condition: not provided
Retinal dystrophy
Primary ciliary dyskinesia
RPGR-related retinopathy

Reviewed By Expert Panel

CA226344

rs_62635001

6 SubmittersRCV000085043 RCV001075424 RCV002514519 RCV005623295

NM_001034853.2(RPGR):c.1245+3A>G

SNV
Germline

ChrX:38298953

Pathogenic

Retinitis pigmentosa 3
Condition: not provided
Retinal dystrophy
Primary ciliary dyskinesia
RPGR-related retinopathy

Reviewed By Expert Panel

CA226348

rs_62635002

5 SubmittersRCV000010579 RCV000085047 RCV001073791 RCV002514520 RCV005415406

NM_001034853.2(RPGR):c.154G>T (p.Gly52Ter)

SNV
Germline

ChrX:38323399

Pathogenic

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA226368

rs_281865296

2 SubmittersRCV000085062 RCV002513914

NM_001034853.2(RPGR):c.1573-1G>A

SNV
Germline

ChrX:38288042

Pathogenic

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA226370

rs_62635010

2 SubmittersRCV000085064 RCV002513915

NM_001034853.2(RPGR):c.1573-2A>G

SNV
Germline

ChrX:38288043

Pathogenic

Condition: not provided
X-linked cone-rod dystrophy 1
Primary ciliary dyskinesia
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA226371

rs_62635009

5 SubmittersRCV000085065 RCV002290961 RCV002513916 RCV004815043

NM_001034853.2(RPGR):c.1573-8A>G

SNV
Germline

ChrX:38288049

Likely pathogenic

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA226372

rs_62635011

2 SubmittersRCV000085066 RCV002513917

NM_001034853.2(RPGR):c.1747G>T (p.Glu583Ter)

SNV
Germline

ChrX:38287867

Pathogenic

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA226374

rs_62635013

2 SubmittersRCV000085071 RCV003534331

NM_001034853.2(RPGR):c.28+1G>A

SNV
Germline

ChrX:38327339

Pathogenic

Condition: not provided
Retinal dystrophy
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA226400

rs_62638627

4 SubmittersRCV000085090 RCV001075528 RCV001857419

NM_001034853.2(RPGR):c.28+5G>A

SNV
Germline

ChrX:38327335

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA226401

rs_62638626

3 SubmittersRCV000085091 RCV001074095 RCV002513918

NM_001034853.2(RPGR):c.310+1G>C

SNV
Germline

ChrX:38321026

Pathogenic

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA226411

rs_62638639

2 SubmittersRCV000085099 RCV005089565

NM_001034853.2(RPGR):c.379A>G (p.Arg127Gly)

SNV
Germline

ChrX:38318919

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA226416

rs_62638643

7 SubmittersRCV000085104 RCV001075065 RCV002514524

NM_001034853.2(RPGR):c.581G>A (p.Trp194Ter)

SNV
Germline

ChrX:38317354

Pathogenic

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA226427

rs_62650216

3 SubmittersRCV000085111 RCV001043143

NM_001034853.2(RPGR):c.706C>T (p.Gln236Ter)

SNV
Germline

ChrX:38310687

Pathogenic

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA226437

rs_62638652

4 SubmittersRCV000085117 RCV003534333

NM_001034853.2(RPGR):c.732G>A (p.Lys244=)

SNV
Germline

ChrX:38310661

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA203398

rs_62638654

8 SubmittersRCV000085119 RCV000179749 RCV001083777

NM_001034853.2(RPGR):c.779-1G>A

SNV
Germline

ChrX:38304791

Pathogenic

Condition: not provided
Primary ciliary dyskinesia
RPGR-related retinopathy

Reviewed By Expert Panel

CA226446

rs_62638655

4 SubmittersRCV000085124 RCV003534334 RCV005415408

NM_001034853.2(RPGR):c.905G>A (p.Cys302Tyr)

SNV
Germline

ChrX:38304664

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA226459

rs_62640590

4 SubmittersRCV000085133 RCV001854495 RCV003888465

NM_001034853.2(RPGR):c.934+1G>C

SNV
Germline

ChrX:38304634

Pathogenic

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA226464

rs_62640592

2 SubmittersRCV000085136 RCV002513920

NM_018076.5(ODAD2):c.1972G>T (p.Glu658Ter)

SNV
Germline

Chr10:27940577

Pathogenic

Primary ciliary dyskinesia 23

Criteria Provided
Single Submitter

CA214701

rs_587777199

2 SubmittersRCV000087327

NM_021147.5(CCNO):c.961C>T (p.Gln321Ter)

SNV
Germline

Chr5:55231467

Likely pathogenic

Primary ciliary dyskinesia 29
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA163294

rs_587777501

2 SubmittersRCV000128543 RCV003534367

NM_001369.3(DNAH5):c.11570+124G>C

SNV
Germline

Chr5:13735694

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3

No Assertion Criteria Provided

CA269992

rs_543104462

2 SubmittersRCV000128825

NM_080860.4(RSPH1):c.281G>A (p.Trp94Ter)

SNV
Germline

Chr21:42486455

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia 24
Primary ciliary dyskinesia
RSPH1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA170575

rs_587777635

4 SubmittersRCV000133520 RCV000705021 RCV003398779

NM_145045.5(ODAD3):c.1256C>A (p.Ser419Ter)

SNV
Germline

Chr19:11422722

Pathogenic

Primary ciliary dyskinesia 30
Kartagener syndrome

Criteria Provided
Single Submitter

CA170853

rs_587777780

3 SubmittersRCV000144450 RCV000190933

NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu)

SNV
Germline

Chr5:13700794

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA175767

rs_151080414

9 SubmittersRCV000150462 RCV000372628 RCV001094952

NM_001369.3(DNAH5):c.8387A>G (p.Asp2796Gly)

SNV
Germline

Chr5:13792055

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA175781

rs_727502974

3 SubmittersRCV000150471 RCV000469527

NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys)

SNV
Germline

Chr5:13871648

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA175797

rs_141168110

10 SubmittersRCV000150483 RCV000199834 RCV000667191 RCV002292476

NM_001369.3(DNAH5):c.1356G>A (p.Lys452=)

SNV
Germline

Chr5:13913923

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA182949

rs_144748846

6 SubmittersRCV000155517 RCV000470704 RCV001156731

NM_001369.3(DNAH5):c.624C>T (p.Asn208=)

SNV
Germline

Chr5:13922143

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA182951

rs_139640247

9 SubmittersRCV000155518 RCV000204645 RCV001095091 RCV001553168

NM_001369.3(DNAH5):c.8642C>G (p.Ala2881Gly)

SNV
Germline

Chr5:13788721

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3
Respiratory ciliopathies including non-CF bronchiectasis

Criteria Provided
Conflicting Classifications

CA175780

rs_727502973

6 SubmittersRCV000556876 RCV004783753 RCV005031658 RCV005431495

NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro)

SNV
Germline

Chr5:13810166

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA184953

rs_78853309

9 SubmittersRCV000156495 RCV000778752 RCV000556129 RCV002510797

NM_001369.3(DNAH5):c.6731A>T (p.Lys2244Met)

SNV
Germline

Chr5:13820456

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA182931

rs_187023993

5 SubmittersRCV000155508 RCV000205957 RCV002498755

NM_001369.3(DNAH5):c.5485-11A>G

SNV
Germline

Chr5:13841141

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA175792

rs_372860402

2 SubmittersRCV000150479 RCV002516023

NM_001277115.2(DNAH11):c.470G>A (p.Gly157Glu)

SNV
Germline

Chr7:21545124

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA175698

rs_185011953

5 SubmittersRCV000150424 RCV000862582 RCV002281964 RCV002227077

NM_001277115.2(DNAH11):c.939C>T (p.Ser313=)

SNV
Germline

Chr7:21561127

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA182885

rs_72655977

8 SubmittersRCV000155482 RCV000296338 RCV001310953 RCV005229991

NM_001277115.2(DNAH11):c.3853-12T>A

SNV
Germline

Chr7:21615102

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA175717

rs_727502966

2 SubmittersRCV000150434 RCV002055961

NM_001277115.2(DNAH11):c.4879C>T (p.Arg1627Cys)

SNV
Germline

Chr7:21639000

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA175718

rs_727502967

7 SubmittersRCV000150435 RCV000556593 RCV001263479

NM_001277115.2(DNAH11):c.6437G>A (p.Arg2146His)

SNV
Germline

Chr7:21704597

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA185731

rs_727505321

5 SubmittersRCV000156866 RCV001392556

NM_001277115.2(DNAH11):c.8798-5G>A

SNV
Germline

Chr7:21750217

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA175737

rs_189821372

5 SubmittersRCV000150445 RCV000234300 RCV003615820 RCV003436958

NM_001277115.2(DNAH11):c.9097A>G (p.Ile3033Val)

SNV
Germline

Chr7:21765584

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA175741

rs_72657373

7 SubmittersRCV000150448 RCV000205997 RCV001705981 RCV003114294

NM_001277115.2(DNAH11):c.9935A>T (p.Asp3312Val)

SNV
Germline

Chr7:21789251

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA175743

rs_72657389

7 SubmittersRCV000150449 RCV000767007 RCV001080094 RCV001164291

NM_001277115.2(DNAH11):c.10441G>A (p.Glu3481Lys)

SNV
Germline

Chr7:21816575

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA175747

rs_727502969

3 SubmittersRCV000150451 RCV000705884 RCV002051817

NM_001277115.2(DNAH11):c.12969G>C (p.Gln4323His)

SNV
Germline

Chr7:21894919

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA175761

rs_191802172

5 SubmittersRCV000150459 RCV000468438 RCV003144142 RCV004544351

NM_001277115.2(DNAH11):c.2166A>G (p.Pro722=)

SNV
Germline

Chr7:21589400

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA175710

rs_191266255

6 SubmittersRCV000150430 RCV000231791 RCV000724631

NM_001277115.2(DNAH11):c.6970C>G (p.Leu2324Val)

SNV
Germline

Chr7:21711847

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
DNAH11-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA182894

rs_201323940

6 SubmittersRCV000155487 RCV000629560 RCV002227078 RCV004544440 RCV004724936

NM_001277115.2(DNAH11):c.8990G>A (p.Arg2997Gln)

SNV
Germline

Chr7:21765477

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA175740

rs_35865357

7 SubmittersRCV000150447 RCV000230982 RCV001729408 RCV001705980

NM_001277115.2(DNAH11):c.9102+8G>A

SNV
Germline

Chr7:21765597

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA182898

rs_72657374

6 SubmittersRCV000155489 RCV000226025 RCV003114304 RCV001706036

NM_001277115.2(DNAH11):c.10411G>A (p.Glu3471Lys)

SNV
Germline

Chr7:21816545

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA175745

rs_117729990

4 SubmittersRCV000150450 RCV000305467

NM_001010892.3(RSPH4A):c.584C>G (p.Pro195Arg)

SNV
Germline

Chr6:116617207

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA177722

rs_141226759

6 SubmittersRCV000151744 RCV000327302 RCV001095098 RCV002272141

NM_152732.5(RSPH9):c.421G>A (p.Val141Met)

SNV
Germline

Chr6:43655589

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 12

Criteria Provided
Conflicting Classifications

CA177733

rs_2295947

3 SubmittersRCV000151749 RCV000464108 RCV001165017

NM_018139.3(DNAAF2):c.727G>T (p.Glu243Ter)

SNV
Germline

Chr14:49634423

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA273617

rs_727504815

1 SubmittersRCV000156150

NM_031427.4(DNAL1):c.415C>G (p.Leu139Val)

SNV
Germline

Chr14:73689398

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Primary ciliary dyskinesia 16

Criteria Provided
Conflicting Classifications

CA182963

rs_141873943

6 SubmittersRCV000155525 RCV000723999 RCV001088090

NM_080860.4(RSPH1):c.563T>G (p.Leu188Ter)

SNV
Germline

Chr21:42482647

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 24

Criteria Provided
Multiple Submitters
No Conflicts

CA177720

rs_727503394

3 SubmittersRCV000151743 RCV001333454

NM_017950.4(CCDC40):c.940-7G>A

SNV
Germline

Chr17:80050057

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA184732

rs_727504972

6 SubmittersRCV000156385 RCV000340912 RCV001094542 RCV001354328

NM_001277115.2(DNAH11):c.640A>G (p.Ile214Val)

SNV
Germline

Chr7:21558946

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA179973

rs_117064287

7 SubmittersRCV000153155 RCV000196489 RCV001535047 RCV002466448

NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala)

SNV
Germline

Chr17:80040052

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Primary ciliary dyskinesia 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA233639

rs_201709592

7 SubmittersRCV000196597 RCV000218985 RCV001122016 RCV003422043

NM_001277115.2(DNAH11):c.11402C>G (p.Pro3801Arg)

SNV
Germline

Chr7:21864563

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA179977

rs_146362213

5 SubmittersRCV000153158 RCV000344393

NM_001277115.2(DNAH11):c.10976C>T (p.Ala3659Val)

SNV
Germline

Chr7:21852546

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA179975

rs_150631721

5 SubmittersRCV000153157 RCV000271550

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_178452.6(DNAAF1):c.546C>G (p.Asn182Lys)

SNV
Germline

Chr16:84154770

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 13

Criteria Provided
Conflicting Classifications

CA233904

rs_144018942

10 SubmittersRCV000153154 RCV000232041 RCV001094435

NM_001277115.2(DNAH11):c.5622-7C>A

SNV
Germline

Chr7:21687092

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA233906

rs_727503901

3 SubmittersRCV000153156 RCV001078676 RCV004544392

NM_001369.3(DNAH5):c.9218A>G (p.Tyr3073Cys)

SNV
Germline

Chr5:13776594

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA334731

rs_138505566

3 SubmittersRCV000168403

NM_001369.3(DNAH5):c.8998C>T (p.Arg3000Ter)

SNV
Germline

Chr5:13777309

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Condition: not provided
DNAH5-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA334769

rs_769054713

4 SubmittersRCV000168445 RCV003221832 RCV004742300

NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp)

SNV
Germline

Chr5:13786242

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA203161

rs_115776799

9 SubmittersRCV000168402 RCV000179101 RCV001095072 RCV003436964

NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp)

SNV
Germline

Chr5:13793948

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia 3
Condition: not provided
Primary ciliary dyskinesia
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA334386

rs_148720124

10 SubmittersRCV000218415 RCV000665929 RCV000766289 RCV001030822 RCV004742299

NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys)

SNV
Germline

Chr5:13914634

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA239195

rs_140782270

14 SubmittersRCV000219496 RCV000724138 RCV000665936 RCV001083198

NM_018139.3(DNAAF2):c.1584T>A (p.Asn528Lys)

SNV
Germline

Chr14:49633566

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 10
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200549

rs_144077436

5 SubmittersRCV000173463 RCV000196382 RCV001111756 RCV003389758

NM_001277115.2(DNAH11):c.1720A>G (p.Ile574Val)

SNV
Germline

Chr7:21588073

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA239193

rs_374359812

3 SubmittersRCV000173733 RCV000704090

NM_001369.3(DNAH5):c.1251C>T (p.Thr417=)

SNV
Germline

Chr5:13914589

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA200693

rs_112911055

5 SubmittersRCV000173738 RCV000861759 RCV001151284

NM_001034853.2(RPGR):c.1257A>C (p.Pro419=)

SNV
Germline

ChrX:38297441

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA239467

rs_759743089

2 SubmittersRCV000173993 RCV001405879

NM_001034853.2(RPGR):c.1348T>C (p.Cys450Arg)

SNV
Germline

ChrX:38297350

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
X-linked cone-rod dystrophy 1
Retinitis pigmentosa 3

Criteria Provided
Conflicting Classifications

CA239469

rs_794727019

3 SubmittersRCV000173995 RCV001360742 RCV001353107

NM_023036.6(DNAI2):c.1408G>A (p.Gly470Ser)

SNV
Germline

Chr17:74310077

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200855

rs_115299472

6 SubmittersRCV000174160 RCV000298854 RCV001094489 RCV003322757

NM_001369.3(DNAH5):c.1585C>T (p.Arg529Trp)

SNV
Germline

Chr5:13911445

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA239818

rs_200452908

4 SubmittersRCV000174297 RCV000463597

NM_012144.4(DNAI1):c.1063+19C>T

SNV
Germline

Chr9:34501200

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA239886

rs_794727066

2 SubmittersRCV000174363 RCV003765085

NM_023036.6(DNAI2):c.1615G>A (p.Val539Ile)

SNV
Germline

Chr17:74312123

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA239939

rs_199817659

5 SubmittersRCV000174403 RCV001243976

NM_012144.4(DNAI1):c.1222G>A (p.Val408Met)

SNV
Germline

Chr9:34506785

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
Kartagener syndrome

Criteria Provided
Conflicting Classifications

CA240119

rs_794727103

4 SubmittersRCV000174572 RCV000696257 RCV002470792

NM_001369.3(DNAH5):c.1955G>A (p.Ser652Asn)

SNV
Germline

Chr5:13901349

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA240289

rs_749126116

4 SubmittersRCV000174718 RCV000820524

NM_001277115.2(DNAH11):c.2682C>T (p.Leu894=)

SNV
Germline

Chr7:21599801

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA240490

rs_149926178

3 SubmittersRCV000174869 RCV002056926

NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=)

SNV
Germline

Chr7:21600912

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA201265

rs_72657304

8 SubmittersRCV000175028 RCV000372685 RCV001532104

NM_003611.3(OFD1):c.2168C>T (p.Ser723Leu)

SNV
Germline

ChrX:13760628

Conflicting classifications of pathogenicity

Condition: not provided
Orofaciodigital syndrome I
Joubert syndrome
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA240715

rs_746300545

3 SubmittersRCV000175046 RCV000701169 RCV004821992

NM_001277115.2(DNAH11):c.3466G>A (p.Gly1156Arg)

SNV
Germline

Chr7:21601436

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
DNAH11-related disorder
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA241015

rs_183521702

6 SubmittersRCV000175288 RCV001087376 RCV004539628 RCV005230038

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 SubmittersRCV000250356 RCV001087266 RCV000724053 RCV001145561

NM_018139.3(DNAAF2):c.1953A>G (p.Pro651=)

SNV
Germline

Chr14:49628066

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 10

Criteria Provided
Conflicting Classifications

CA241738

rs_34352773

9 SubmittersRCV000242612 RCV000724055 RCV001083616 RCV001109442

NM_031427.4(DNAL1):c.4-15T>C

SNV
Germline

Chr14:73654832

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia 16

Criteria Provided
Conflicting Classifications

CA241808

rs_185924269

2 SubmittersRCV000175955 RCV002054074

NM_017950.4(CCDC40):c.3354C>A (p.Tyr1118Ter)

SNV
Germline

Chr17:80099700

Pathogenic/Likely pathogenic

Condition: not provided
Primary ciliary dyskinesia
Respiratory ciliopathies including non-CF bronchiectasis

Criteria Provided
Multiple Submitters
No Conflicts

CA275098

rs_374909386

3 SubmittersRCV000176107 RCV000544631 RCV004782285

NM_001277115.2(DNAH11):c.4001T>C (p.Ile1334Thr)

SNV
Germline

Chr7:21615262

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia 7
Primary ciliary dyskinesia
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA242059

rs_72657309

6 SubmittersRCV000176180 RCV000515414 RCV001080777 RCV004537394

NM_001369.3(DNAH5):c.3734G>A (p.Arg1245His)

SNV
Germline

Chr5:13870867

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA242429

rs_77939839

7 SubmittersRCV000176468 RCV001156529 RCV001086388 RCV003927625

NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr)

SNV
Germline

Chr5:13870826

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA242431

rs_112217391

6 SubmittersRCV000247012 RCV000724084 RCV001089342

NM_001277115.2(DNAH11):c.5936T>C (p.Leu1979Pro)

SNV
Germline

Chr7:21690776

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA244772

rs_772070316

3 SubmittersRCV000177834 RCV001221043

NM_001369.3(DNAH5):c.5883-6A>G

SNV
Germline

Chr5:13830781

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA244817

rs_763588282

2 SubmittersRCV000177867 RCV001446596

NM_001010892.3(RSPH4A):c.1708G>C (p.Glu570Gln)

SNV
Germline

Chr6:116629612

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 11

Criteria Provided
Conflicting Classifications

CA245163

rs_147003118

7 SubmittersRCV000242421 RCV000543028 RCV000724046 RCV001155427

NM_017950.4(CCDC40):c.630C>T (p.Ser210=)

SNV
Germline

Chr17:80047356

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA202815

rs_117419007

7 SubmittersRCV000178315 RCV000206735 RCV001094504 RCV001706140

NM_001277115.2(DNAH11):c.7325A>G (p.Lys2442Arg)

SNV
Germline

Chr7:21725869

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA245722

rs_114286628

6 SubmittersRCV000178568 RCV001088819 RCV001836744 RCV004537469

NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp)

SNV
Germline

Chr5:13810137

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia 3
Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA245724

rs_564040169

7 SubmittersRCV000214734 RCV000672878 RCV000724052 RCV001037117

NM_001369.3(DNAH5):c.7752+10T>C

SNV
Germline

Chr5:13809034

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA202948

rs_149460805

6 SubmittersRCV000178597 RCV000228235 RCV000674418

NM_012144.4(DNAI1):c.370C>T (p.Arg124Cys)

SNV
Germline

Chr9:34489431

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
Kartagener syndrome

Criteria Provided
Conflicting Classifications

CA246122

rs_116938457

8 SubmittersRCV000178924 RCV000233417 RCV001095357

NM_001369.3(DNAH5):c.9355A>G (p.Lys3119Glu)

SNV
Germline

Chr5:13776457

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA203173

rs_76690956

5 SubmittersRCV000179161 RCV000474676 RCV001151915

NM_001277115.2(DNAH11):c.9640G>A (p.Ala3214Thr)

SNV
Germline

Chr7:21786666

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA246500

rs_141979671

4 SubmittersRCV000179219 RCV000629407 RCV004537484

NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His)

SNV
Germline

Chr7:21816606

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Condition: not provided
Primary ciliary dyskinesia 7
DNAH11-related disorder
Developmental defect during embryogenesis

Criteria Provided
Conflicting Classifications

CA246938

rs_370932895

14 SubmittersRCV000226017 RCV000218296 RCV000723974 RCV001160743 RCV004537494 RCV005625388

NM_001369.3(DNAH5):c.11234A>G (p.His3745Arg)

SNV
Germline

Chr5:13737473

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA246962

rs_36088710

3 SubmittersRCV000179658 RCV002054138

NM_023036.6(DNAI2):c.1188G>A (p.Arg396=)

SNV
Germline

Chr17:74305419

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA248226

rs_139935771

4 SubmittersRCV000180683 RCV001079629

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_031924.8(RSPH3):c.190C>T (p.Gln64Ter)

SNV
Germline

Chr6:158993853

Pathogenic

Primary ciliary dyskinesia 32

No Assertion Criteria Provided

CA204021

rs_796052117

1 SubmittersRCV000186567

NM_031924.8(RSPH3):c.766C>T (p.Arg256Ter)

SNV
Germline

Chr6:158980867

Pathogenic

Primary ciliary dyskinesia 32

No Assertion Criteria Provided

CA204023

rs_796052118

1 SubmittersRCV000186569

NM_031924.8(RSPH3):c.679C>T (p.Arg227Ter)

SNV
Germline

Chr6:158982502

Pathogenic

Primary ciliary dyskinesia 32

No Assertion Criteria Provided

CA204025

rs_796052119

1 SubmittersRCV000186571

NM_001277115.2(DNAH11):c.8746C>T (p.Gln2916Ter)

SNV
Germline

Chr7:21749750

Pathogenic

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA275990

rs_797045085

3 SubmittersRCV000190577 RCV000707003

NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter)

SNV
Germline

Chr5:13865675

Pathogenic

Kartagener syndrome
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346933

rs_771663107

9 SubmittersRCV000190910 RCV000477807 RCV000814567 RCV005051760

NM_001190787.3(MCIDAS):c.1142G>A (p.Arg381His)

SNV
Germline

Chr5:55220382

Likely pathogenic

Ciliary dyskinesia, primary, 42
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA346961

rs_797045152

2 SubmittersRCV000983978 RCV001852538

NM_031924.8(RSPH3):c.205-2A>G

SNV
Germline

Chr6:158986423

Pathogenic

Primary ciliary dyskinesia 32
RSPH3-related disorder

Criteria Provided
Single Submitter

CA346963

rs_142800871

3 SubmittersRCV000186568 RCV004757155

NM_018076.5(ODAD2):c.1669G>T (p.Glu557Ter)

SNV
Germline

Chr10:27944296

Pathogenic

Primary ciliary dyskinesia 23
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346942

rs_145742175

4 SubmittersRCV000234898 RCV000725126

NM_021254.4(CFAP298):c.735C>G (p.Tyr245Ter)

SNV
Germline

Chr21:32602299

Pathogenic

Primary ciliary dyskinesia 26
Condition: not provided

Criteria Provided
Single Submitter

CA346951

rs_202094637

2 SubmittersRCV000074371 RCV001386656

NM_080860.4(RSPH1):c.727+5G>A

SNV
Germline

Chr21:42477286

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 24

Criteria Provided
Conflicting Classifications

CA346947

rs_200382776

6 SubmittersRCV000685549 RCV002223814 RCV002285012

NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala)

SNV
Germline

ChrX:13763840

Conflicting classifications of pathogenicity

not specified
Orofaciodigital syndrome I
Joubert syndrome
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA205192

rs_797045846

4 SubmittersRCV000192398 RCV001223911 RCV002485287 RCV004020331

NM_003611.3(OFD1):c.2619T>A (p.Ile873=)

SNV
Germline

ChrX:13767146

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA207194

rs_797045847

2 SubmittersRCV000193601 RCV004020332

NM_003611.3(OFD1):c.2631G>A (p.Lys877=)

SNV
Germline

ChrX:13767158

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA209289

rs_797045848

2 SubmittersRCV000194850 RCV004020333

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_001369.3(DNAH5):c.13126-2A>C

SNV
Germline

Chr5:13708337

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA337114

rs_863224503

1 SubmittersRCV000197324

NM_001369.3(DNAH5):c.10616G>A (p.Arg3539His)

SNV
Germline

Chr5:13753489

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA337718

rs_769458738

6 SubmittersRCV000198195 RCV000788220 RCV004760429

NM_001369.3(DNAH5):c.9502C>T (p.Arg3168Ter)

SNV
Germline

Chr5:13770852

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Respiratory ciliopathies including non-CF bronchiectasis

Criteria Provided
Multiple Submitters
No Conflicts

CA338247

rs_863224504

5 SubmittersRCV000198869 RCV005042422 RCV004782307

NM_001369.3(DNAH5):c.4509C>T (p.Thr1503=)

SNV
Germline

Chr5:13864484

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Condition: not provided
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA337705

rs_138157585

5 SubmittersRCV000198161 RCV000243272 RCV001532031 RCV001156312

NM_001010892.3(RSPH4A):c.1917-4A>G

SNV
Germline

Chr6:116632203

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Primary ciliary dyskinesia 11

Criteria Provided
Conflicting Classifications

CA337544

rs_201826366

4 SubmittersRCV000197923 RCV000252676 RCV001095100

NM_152732.5(RSPH9):c.798C>T (p.Gly266=)

SNV
Germline

Chr6:43670916

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 12
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA337628

rs_770913202

2 SubmittersRCV000198100 RCV001464323

NM_001277115.2(DNAH11):c.661A>T (p.Met221Leu)

SNV
Germline

Chr7:21558967

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA338132

rs_147525173

5 SubmittersRCV000198716 RCV000252558 RCV003437003

NM_018139.3(DNAAF2):c.1417C>T (p.Arg473Trp)

SNV
Germline

Chr14:49633733

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 10

Criteria Provided
Conflicting Classifications

CA337834

rs_200327783

3 SubmittersRCV000198347 RCV001094153

NM_018139.3(DNAAF2):c.20C>T (p.Ser7Phe)

SNV
Germline

Chr14:49635130

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Primary ciliary dyskinesia 10

Criteria Provided
Conflicting Classifications

CA339159

rs_577796590

5 SubmittersRCV000200209 RCV000252552 RCV001094201

NM_178452.6(DNAAF1):c.1354C>A (p.Pro452Thr)

SNV
Germline

Chr16:84170182

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 13
not specified
Condition: not provided
DNAAF1-related disorder

Criteria Provided
Conflicting Classifications

CA337003

rs_145680314

8 SubmittersRCV000197156 RCV001120255 RCV001195228 RCV002515467 RCV003977549

NM_017950.4(CCDC40):c.961C>T (p.Arg321Ter)

SNV
Germline

Chr17:80050085

Pathogenic

Primary ciliary dyskinesia 15
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA338083

rs_754867753

4 SubmittersRCV000763421 RCV000198649

NM_017950.4(CCDC40):c.1673C>G (p.Thr558Arg)

SNV
Germline

Chr17:80081656

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Condition: not provided
Primary ciliary dyskinesia 15
CCDC40-related disorder

Criteria Provided
Conflicting Classifications

CA335826

rs_191736683

7 SubmittersRCV000195666 RCV000610187 RCV001657985 RCV001125861 RCV003907743

NM_017950.4(CCDC40):c.2017G>A (p.Asp673Asn)

SNV
Germline

Chr17:80084770

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA336041

rs_115850223

5 SubmittersRCV000195936 RCV001094485 RCV001357838

NM_017950.4(CCDC40):c.2226C>T (p.Ser742=)

SNV
Germline

Chr17:80084979

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA337218

rs_72849355

4 SubmittersRCV000197452 RCV001094486 RCV005411367

NM_017950.4(CCDC40):c.3097A>T (p.Lys1033Ter)

SNV
Germline

Chr17:80097320

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA336158

rs_863224519

1 SubmittersRCV000196101

NM_001277115.2(DNAH11):c.58C>A (p.Arg20Ser)

SNV
Germline

Chr7:21543303

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA248936

rs_72655967

6 SubmittersRCV000202747 RCV001081984 RCV000430697

NM_001256715.2(DNAAF3):c.1049-3C>T

SNV
Germline

Chr19:55160016

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA249243

rs_747311078

2 SubmittersRCV000203038 RCV003534491

NM_001481.3(GAS8):c.927C>A (p.Cys309Ter)

SNV
Germline

Chr16:90037764

Pathogenic

Primary ciliary dyskinesia 33

No Assertion Criteria Provided

CA280934

rs_748688175

1 SubmittersRCV000203519

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 SubmittersRCV000205337 RCV003430762 RCV002485338

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_001369.3(DNAH5):c.13778C>T (p.Thr4593Met)

SNV
Germline

Chr5:13692081

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA348633

rs_142036266

4 SubmittersRCV000204405 RCV000478631 RCV001095124

NM_001369.3(DNAH5):c.12379C>T (p.Arg4127Cys)

SNV
Germline

Chr5:13719002

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA350190

rs_148696723

4 SubmittersRCV000206124 RCV000669663

NM_001369.3(DNAH5):c.12251G>A (p.Arg4084Gln)

SNV
Germline

Chr5:13721028

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Infertility disorder

Criteria Provided
Conflicting Classifications

CA350552

rs_140832239

5 SubmittersRCV000206529 RCV000665808 RCV001327954

NM_001369.3(DNAH5):c.8999G>A (p.Arg3000Gln)

SNV
Germline

Chr5:13777308

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA348945

rs_137949961

6 SubmittersRCV000204742 RCV000671435 RCV001560455

NM_001369.3(DNAH5):c.5557A>T (p.Lys1853Ter)

SNV
Germline

Chr5:13841058

Pathogenic

Primary ciliary dyskinesia
Male infertility
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA348039

rs_748618094

5 SubmittersRCV000203745 RCV001283735 RCV002221513

NM_001369.3(DNAH5):c.5281C>T (p.Arg1761Ter)

SNV
Germline

Chr5:13841895

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA348934

rs_148891849

5 SubmittersRCV000204721 RCV001781611

NM_001369.3(DNAH5):c.1198G>A (p.Val400Met)

SNV
Germline

Chr5:13914642

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA350879

rs_144575803

10 SubmittersRCV000206891 RCV000667189 RCV003955226

NM_001369.3(DNAH5):c.574G>A (p.Ala192Thr)

SNV
Germline

Chr5:13922193

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA350789

rs_140700961

5 SubmittersRCV000206793 RCV000585417 RCV000666957

NM_001369.3(DNAH5):c.88C>T (p.Arg30Trp)

SNV
Germline

Chr5:13931214

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350348

rs_114220185

9 SubmittersRCV000206301 RCV000242149 RCV000667117 RCV004567464

NM_001277115.2(DNAH11):c.1749T>A (p.Val583=)

SNV
Germline

Chr7:21588102

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA349508

rs_368294823

5 SubmittersRCV000205350 RCV003437006 RCV005434700

NM_001277115.2(DNAH11):c.3384C>T (p.Ser1128=)

SNV
Germline

Chr7:21601138

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349929

rs_79955190

5 SubmittersRCV000205811 RCV000244962 RCV003437007

NM_001277115.2(DNAH11):c.4230G>T (p.Trp1410Cys)

SNV
Germline

Chr7:21617753

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA348241

rs_367916239

2 SubmittersRCV000203962

NM_001277115.2(DNAH11):c.4501-7A>T

SNV
Germline

Chr7:21635864

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Condition: not provided
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA348176

rs_62447794

8 SubmittersRCV000203881 RCV000251895 RCV000762446 RCV003615824

NM_001277115.2(DNAH11):c.5132A>G (p.Gln1711Arg)

SNV
Germline

Chr7:21658835

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
not specified
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA349577

rs_189432084

6 SubmittersRCV000205408 RCV000998771 RCV000600436 RCV004541286

NM_001277115.2(DNAH11):c.6295G>A (p.Asp2099Asn)

SNV
Germline

Chr7:21704455

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA350678

rs_750251384

3 SubmittersRCV002503807 RCV004020521

NM_001277115.2(DNAH11):c.7294C>T (p.Arg2432Trp)

SNV
Germline

Chr7:21725838

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349204

rs_188615176

4 SubmittersRCV000205041 RCV001333063 RCV001559427

NM_001277115.2(DNAH11):c.8478C>T (p.His2826=)

SNV
Germline

Chr7:21745031

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349805

rs_62445328

5 SubmittersRCV000205671 RCV000254484 RCV000762448

NM_001277115.2(DNAH11):c.9468T>C (p.Asp3156=)

SNV
Germline

Chr7:21779089

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349149

rs_201207627

6 SubmittersRCV000204961 RCV000252675 RCV001577340

NM_001277115.2(DNAH11):c.9907A>G (p.Ile3303Val)

SNV
Germline

Chr7:21787566

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA349446

rs_376875223

3 SubmittersRCV000205270

NM_001277115.2(DNAH11):c.12561T>G (p.Asp4187Glu)

SNV
Germline

Chr7:21892478

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA348046

rs_148429731

7 SubmittersRCV000203756 RCV000214432 RCV000514577

NM_001277115.2(DNAH11):c.12632C>T (p.Pro4211Leu)

SNV
Germline

Chr7:21892549

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA348703

rs_142585703

8 SubmittersRCV000204475 RCV000856671 RCV000659071

NM_018076.5(ODAD2):c.2342G>T (p.Gly781Val)

SNV
Germline

Chr10:27935163

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 23
Primary ciliary dyskinesia
ODAD2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350433

rs_145619075

6 SubmittersRCV000206393 RCV002460992 RCV003937790 RCV001531054

NM_017950.4(CCDC40):c.3181-2A>G

SNV
Germline

Chr17:80099525

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA348827

rs_762664261

1 SubmittersRCV000204611

NM_003611.3(OFD1):c.355C>A (p.Pro119Thr)

SNV
Germline

ChrX:13738888

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA349854

rs_202103941

2 SubmittersRCV002057049 RCV004020507

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
Primary ciliary dyskinesia 14
CCDC39-related disorder

Criteria Provided
Conflicting Classifications

CA2715852

rs_769223754

5 SubmittersRCV000214679 RCV000233515 RCV005025350 RCV003417772

NM_001369.3(DNAH5):c.12209C>T (p.Thr4070Ile)

SNV
Germline

Chr5:13721070

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201712

rs_746662023

4 SubmittersRCV000223150 RCV001833203

NM_001369.3(DNAH5):c.11974G>C (p.Asp3992His)

SNV
Germline

Chr5:13727566

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3201780

rs_143251480

6 SubmittersRCV000214511 RCV000541309 RCV000666941

NM_001369.3(DNAH5):c.11437C>T (p.Arg3813Trp)

SNV
Germline

Chr5:13737270

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA3201981

rs_140948493

8 SubmittersRCV000221456 RCV000226887 RCV001589126 RCV000667684 RCV004742336

NM_001369.3(DNAH5):c.10323G>A (p.Met3441Ile)

SNV
Germline

Chr5:13758942

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202276

rs_149133845

8 SubmittersRCV000222754 RCV000382477 RCV001095007

NM_001369.3(DNAH5):c.10294G>T (p.Val3432Leu)

SNV
Germline

Chr5:13758971

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202282

rs_143251588

7 SubmittersRCV000218494 RCV000457798 RCV001153065

NM_001369.3(DNAH5):c.8840C>T (p.Thr2947Ile)

SNV
Germline

Chr5:13780940

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202693

rs_756216163

4 SubmittersRCV000223383 RCV001833204

NM_001369.3(DNAH5):c.7212T>C (p.Asp2404=)

SNV
Germline

Chr5:13814623

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA10576647

rs_876657454

3 SubmittersRCV000223615 RCV001484159 RCV001157581

NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile)

SNV
Germline

Chr5:13830026

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA501221

rs_753614861

9 SubmittersRCV000214042 RCV000778755 RCV002253304

NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys)

SNV
Germline

Chr5:13844842

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3203750

rs_116524991

8 SubmittersRCV000220686 RCV000227501 RCV001152320 RCV001582726

NM_001369.3(DNAH5):c.4796+11C>A

SNV
Germline

Chr5:13862537

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203893

rs_146696580

4 SubmittersRCV000221152 RCV001152428 RCV002054371

NM_001369.3(DNAH5):c.4510G>C (p.Gly1504Arg)

SNV
Germline

Chr5:13864483

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3203964

rs_143567667

8 SubmittersRCV000222371 RCV000351920 RCV001095083 RCV005243162

NM_001369.3(DNAH5):c.3534C>T (p.Asn1178=)

SNV
Germline

Chr5:13871628

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3204242

rs_151274810

5 SubmittersRCV000219413 RCV000553639 RCV001156531

NM_001369.3(DNAH5):c.1321-15T>C

SNV
Germline

Chr5:13913973

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204877

rs_202081804

3 SubmittersRCV000215129 RCV000302531 RCV002054945

NM_001010892.3(RSPH4A):c.1662+15C>T

SNV
Germline

Chr6:116628384

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 11
not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3970992

rs_183372450

3 SubmittersRCV000338468 RCV000222735 RCV002057142

NM_001010892.3(RSPH4A):c.1974A>G (p.Thr658=)

SNV
Germline

Chr6:116632264

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
RSPH4A-related disorder
Primary ciliary dyskinesia 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3971096

rs_142977481

6 SubmittersRCV000220808 RCV000531490 RCV003947712 RCV001157112 RCV004721302

NM_001277115.2(DNAH11):c.1426-9T>C

SNV
Germline

Chr7:21571797

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4178983

rs_72655983

8 SubmittersRCV000214869 RCV000233997 RCV001731439 RCV003114375

NM_001277115.2(DNAH11):c.4333C>T (p.Arg1445Ter)

SNV
Germline

Chr7:21619178

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 7
Respiratory ciliopathies including non-CF bronchiectasis

Criteria Provided
Multiple Submitters
No Conflicts

CA4179997

rs_72657316

7 SubmittersRCV000218593 RCV003325469 RCV003147415 RCV005252820

NM_001277115.2(DNAH11):c.5152A>G (p.Ile1718Val)

SNV
Germline

Chr7:21658855

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA4180322

rs_137855415

5 SubmittersRCV000215305 RCV000299427 RCV004541307

NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter)

SNV
Germline

Chr7:21702773

Pathogenic

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 7
DNAH11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA4180738

rs_200693106

11 SubmittersRCV000223514 RCV001554971 RCV001782703 RCV004541339

NM_001277115.2(DNAH11):c.6683+13C>G

SNV
Germline

Chr7:21707848

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4180934

rs_17145077

6 SubmittersRCV000216890 RCV000326898 RCV001530718 RCV002227095

NM_001277115.2(DNAH11):c.8647G>A (p.Glu2883Lys)

SNV
Germline

Chr7:21748716

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181664

rs_752605468

3 SubmittersRCV000217601 RCV003765367

NM_001277115.2(DNAH11):c.9435G>A (p.Thr3145=)

SNV
Germline

Chr7:21779056

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4181961

rs_72657379

6 SubmittersRCV000222973 RCV000226484 RCV002274964 RCV003615827

NM_001277115.2(DNAH11):c.11233G>A (p.Glu3745Lys)

SNV
Germline

Chr7:21861883

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4182677

rs_182389910

8 SubmittersRCV000213329 RCV000231725 RCV000426049 RCV003615825

NM_001277115.2(DNAH11):c.12175G>A (p.Ala4059Thr)

SNV
Germline

Chr7:21873481

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4182980

rs_142372794

5 SubmittersRCV000215582 RCV000536515 RCV001162552

NM_001277115.2(DNAH11):c.12899G>A (p.Arg4300His)

SNV
Germline

Chr7:21894771

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4183210

rs_377388499

6 SubmittersRCV000349165 RCV000221830 RCV003144164 RCV004767161

NM_001277115.2(DNAH11):c.13050-15C>T

SNV
Germline

Chr7:21899321

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4183273

rs_149634292

4 SubmittersRCV000215532 RCV000336279

NM_012144.4(DNAI1):c.47A>G (p.Gln16Arg)

SNV
Germline

Chr9:34459052

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Condition: not provided
DNAI1-related disorder

Criteria Provided
Conflicting Classifications

CA5033878

rs_148701985

5 SubmittersRCV000216654 RCV000458049 RCV005411376 RCV003977620

NM_012144.4(DNAI1):c.297A>G (p.Gln99=)

SNV
Germline

Chr9:34489358

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5034009

rs_77344166

7 SubmittersRCV000216144 RCV000229436 RCV001707555

NM_018139.3(DNAAF2):c.1595A>G (p.Glu532Gly)

SNV
Germline

Chr14:49633555

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia 10
Primary ciliary dyskinesia
DNAAF2-related disorder

Criteria Provided
Conflicting Classifications

CA7172874

rs_143210369

6 SubmittersRCV000221567 RCV000313737 RCV001215568 RCV003407743

NM_018139.3(DNAAF2):c.1463G>A (p.Gly488Glu)

SNV
Germline

Chr14:49633687

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia 10
Primary ciliary dyskinesia
DNAAF2-related disorder

Criteria Provided
Conflicting Classifications

CA7172911

rs_200121200

5 SubmittersRCV000214384 RCV000319641 RCV000983838 RCV003907824

NM_018139.3(DNAAF2):c.697G>A (p.Ala233Thr)

SNV
Germline

Chr14:49634453

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA7173050

rs_761407249

3 SubmittersRCV000214611 RCV001041287

NM_018139.3(DNAAF2):c.423C>T (p.Val141=)

SNV
Germline

Chr14:49634727

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 10

Criteria Provided
Conflicting Classifications

CA7173110

rs_373251065

5 SubmittersRCV000213301 RCV000358214 RCV001094158

NM_178452.6(DNAAF1):c.1499C>G (p.Pro500Arg)

SNV
Germline

Chr16:84170327

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8202874

rs_138838276

5 SubmittersRCV000220010 RCV000629577 RCV004725070

NM_178452.6(DNAAF1):c.1988C>T (p.Pro663Leu)

SNV
Germline

Chr16:84176222

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8203073

rs_147393144

3 SubmittersRCV000220957 RCV000813165

NM_023036.6(DNAI2):c.571C>T (p.Pro191Ser)

SNV
Germline

Chr17:74289697

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia 9
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8745397

rs_201457010

5 SubmittersRCV000217045 RCV000667140 RCV000861979

NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter)

SNV
Germline

Chr17:74309345

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia 9
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA501229

rs_752924362

10 SubmittersRCV000410372 RCV000220262 RCV004767162

NM_017950.4(CCDC40):c.940-2A>G

SNV
Germline

Chr17:80050062

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA8813631

rs_750708201

3 SubmittersRCV000221299

NM_017950.4(CCDC40):c.1467C>T (p.Ser489=)

SNV
Germline

Chr17:80065511

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 15

Criteria Provided
Conflicting Classifications

CA8813853

rs_200154414

3 SubmittersRCV000214633 RCV000865598 RCV001125858

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_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln)

SNV
Germline

Chr5:13692084

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3201244

rs_367709427

5 SubmittersRCV000229430 RCV000670498

NM_001369.3(DNAH5):c.12523G>A (p.Val4175Met)

SNV
Germline

Chr5:13717497

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3201602

rs_148123430

7 SubmittersRCV000226198 RCV000674761 RCV001200467

NM_001369.3(DNAH5):c.11231C>A (p.Thr3744Asn)

SNV
Germline

Chr5:13737476

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202018

rs_529225111

6 SubmittersRCV000231984 RCV000665807

NM_001369.3(DNAH5):c.10384C>T (p.Gln3462Ter)

SNV
Germline

Chr5:13758881

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3202257

rs_571919972

9 SubmittersRCV000233866 RCV000679863 RCV001572953

NM_001369.3(DNAH5):c.10226G>C (p.Trp3409Ser)

SNV
Germline

Chr5:13762777

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA3202307

rs_755407407

2 SubmittersRCV000231062

NM_001369.3(DNAH5):c.9986T>C (p.Leu3329Pro)

SNV
Germline

Chr5:13766091

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA10582396

rs_878854459

2 SubmittersRCV000226362 RCV004701313

NM_001369.3(DNAH5):c.8029C>T (p.Arg2677Ter)

SNV
Germline

Chr5:13793710

Pathogenic

Primary ciliary dyskinesia
Heterotaxy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3202915

rs_775946081

5 SubmittersRCV000232132 RCV001731458 RCV004719779

NM_001369.3(DNAH5):c.7034G>A (p.Trp2345Ter)

SNV
Germline

Chr5:13814801

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA10582397

rs_755596256

1 SubmittersRCV000231665

NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys)

SNV
Germline

Chr5:13841763

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Infertility disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3203683

rs_142155986

9 SubmittersRCV000227953 RCV000669971 RCV001327951 RCV003311723

NM_001369.3(DNAH5):c.5290T>C (p.Ser1764Pro)

SNV
Germline

Chr5:13841886

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA3203705

rs_748763552

3 SubmittersRCV000234185 RCV002494641

NM_001369.3(DNAH5):c.5114+1G>C

SNV
Germline

Chr5:13850651

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA10582399

rs_878854457

3 SubmittersRCV000229823

NM_001369.3(DNAH5):c.4961G>A (p.Arg1654Gln)

SNV
Germline

Chr5:13850805

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3203823

rs_150868941

10 SubmittersRCV000227048 RCV000519727 RCV000673861

NM_001369.3(DNAH5):c.2861A>C (p.Glu954Ala)

SNV
Germline

Chr5:13885111

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204469

rs_753696648

3 SubmittersRCV000228036

NM_001369.3(DNAH5):c.1830G>A (p.Gln610=)

SNV
Germline

Chr5:13901474

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3204736

rs_549164618

3 SubmittersRCV000231004 RCV001154229

NM_001369.3(DNAH5):c.841G>A (p.Val281Ile)

SNV
Germline

Chr5:13919310

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3205054

rs_548585661

3 SubmittersRCV000225882

NM_001369.3(DNAH5):c.367C>T (p.Leu123Phe)

SNV
Germline

Chr5:13923351

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3205201

rs_148017278

4 SubmittersRCV000232369 RCV001095094 RCV003311722

NM_001369.3(DNAH5):c.330A>T (p.Lys110Asn)

SNV
Germline

Chr5:13923388

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3205211

rs_138832246

5 SubmittersRCV000231939 RCV001151413

NM_001190787.3(MCIDAS):c.856G>A (p.Glu286Lys)

SNV
Germline

Chr5:55220668

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
MCIDAS-related disorder
Ciliary dyskinesia, primary, 42
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3266550

rs_185737637

4 SubmittersRCV000229563 RCV003929950 RCV005396768 RCV004705058

NM_001190787.3(MCIDAS):c.739C>T (p.Arg247Trp)

SNV
Germline

Chr5:55220785

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Ciliary dyskinesia, primary, 42

Criteria Provided
Conflicting Classifications

CA3266561

rs_199825346

3 SubmittersRCV000231891 RCV000238760 RCV005230144

NM_001190787.3(MCIDAS):c.120+3G>A

SNV
Germline

Chr5:55227016

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Ciliary dyskinesia, primary, 42
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3266605

rs_186341559

4 SubmittersRCV000232005 RCV002272187 RCV003430780

NM_001206927.2(DNAH8):c.725G>A (p.Arg242His)

SNV
Germline

Chr6:38734588

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
Spermatogenic failure 46

Criteria Provided
Conflicting Classifications

CA3788025

rs_142863013

3 SubmittersRCV000232124 RCV003151760 RCV002478849

NM_001206927.2(DNAH8):c.9194+1G>A

SNV
Germline

Chr6:38899907

Likely pathogenic

Primary ciliary dyskinesia
DNAH8-related disorder

Criteria Provided
Single Submitter

CA3790412

rs_144711161

2 SubmittersRCV000228661 RCV003417812

NM_001206927.2(DNAH8):c.9710T>C (p.Val3237Ala)

SNV
Germline

Chr6:38909714

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA3790531

rs_141147863

2 SubmittersRCV000231429 RCV004020782

NM_001277115.2(DNAH11):c.126G>A (p.Glu42=)

SNV
Germline

Chr7:21543371

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178618

rs_748250611

2 SubmittersRCV000226948

NM_001277115.2(DNAH11):c.338C>A (p.Ala113Glu)

SNV
Germline

Chr7:21543583

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4178653

rs_772913999

2 SubmittersRCV000232706 RCV002503903

NM_001277115.2(DNAH11):c.563T>G (p.Met188Arg)

SNV
Germline

Chr7:21558869

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4178712

rs_768697972

3 SubmittersRCV000229890 RCV005055777

NM_001277115.2(DNAH11):c.998A>G (p.Gln333Arg)

SNV
Germline

Chr7:21564201

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10582477

rs_878854450

2 SubmittersRCV000227399

NM_001277115.2(DNAH11):c.3122G>A (p.Trp1041Ter)

SNV
Germline

Chr7:21600797

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA10582478

rs_878854441

1 SubmittersRCV000226298

NM_001277115.2(DNAH11):c.3288G>A (p.Met1096Ile)

SNV
Germline

Chr7:21601042

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4179588

rs_575775297

4 SubmittersRCV000232030 RCV003485566 RCV004692853

NM_001277115.2(DNAH11):c.3933A>G (p.Pro1311=)

SNV
Germline

Chr7:21615194

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4179825

rs_138071140

4 SubmittersRCV000229388 RCV001165396 RCV003437018

NM_001277115.2(DNAH11):c.4124G>A (p.Arg1375His)

SNV
Germline

Chr7:21617647

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4179909

rs_151018293

3 SubmittersRCV000227209 RCV004721314

NM_001277115.2(DNAH11):c.4438C>T (p.Arg1480Ter)

SNV
Germline

Chr7:21620016

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4180047

rs_72657321

3 SubmittersRCV000230700 RCV004800350 RCV001576866

NM_001277115.2(DNAH11):c.4455A>G (p.Leu1485=)

SNV
Germline

Chr7:21620033

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA4180052

rs_79119693

4 SubmittersRCV000234696 RCV000250581

NM_001277115.2(DNAH11):c.4598T>G (p.Ile1533Ser)

SNV
Germline

Chr7:21635968

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4180105

rs_73682656

5 SubmittersRCV000228531 RCV000246818 RCV003615828

NM_001277115.2(DNAH11):c.4621C>T (p.Arg1541Ter)

SNV
Germline

Chr7:21635991

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA4180111

rs_757013900

2 SubmittersRCV000232517

NM_001277115.2(DNAH11):c.4944+1G>A

SNV
Germline

Chr7:21639066

Likely pathogenic

Primary ciliary dyskinesia
DNAH11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10582482

rs_878854444

2 SubmittersRCV000228105 RCV004529391

NM_001277115.2(DNAH11):c.5993G>A (p.Gly1998Asp)

SNV
Germline

Chr7:21690833

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180631

rs_369704964

2 SubmittersRCV000226575

NM_001277115.2(DNAH11):c.6302A>G (p.Asn2101Ser)

SNV
Germline

Chr7:21704462

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4180777

rs_201618995

4 SubmittersRCV000229432 RCV000657850

NM_001277115.2(DNAH11):c.8610C>G (p.Tyr2870Ter)

SNV
Germline

Chr7:21748679

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA10582483

rs_878854446

1 SubmittersRCV000233638

NM_001277115.2(DNAH11):c.8969G>A (p.Arg2990His)

SNV
Germline

Chr7:21765456

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
not specified
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4181804

rs_72657371

7 SubmittersRCV000228153 RCV000515080 RCV000253825 RCV002227098

NM_001277115.2(DNAH11):c.9018G>A (p.Thr3006=)

SNV
Germline

Chr7:21765505

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4181821

rs_72657372

5 SubmittersRCV000228824 RCV000250385 RCV002227099

NM_001277115.2(DNAH11):c.9449G>A (p.Arg3150Gln)

SNV
Germline

Chr7:21779070

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181967

rs_181785201

3 SubmittersRCV000229246

NM_001277115.2(DNAH11):c.9783G>C (p.Glu3261Asp)

SNV
Germline

Chr7:21787442

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4182114

rs_201944089

8 SubmittersRCV000229707 RCV000764703 RCV002291605

NM_001277115.2(DNAH11):c.10085A>C (p.Lys3362Thr)

SNV
Germline

Chr7:21801195

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182225

rs_756499246

2 SubmittersRCV000234358

NM_001277115.2(DNAH11):c.10324C>T (p.Gln3442Ter)

SNV
Germline

Chr7:21808041

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4182316

rs_72657393

4 SubmittersRCV000228211 RCV005031813 RCV005055776

NM_001277115.2(DNAH11):c.10391C>T (p.Thr3464Ile)

SNV
Germline

Chr7:21816525

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4182353

rs_141112088

4 SubmittersRCV000232174 RCV002227097

NM_001277115.2(DNAH11):c.11277C>G (p.Ile3759Met)

SNV
Germline

Chr7:21861927

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4182691

rs_202148932

5 SubmittersRCV000226695 RCV002487063 RCV004791357

NM_001277115.2(DNAH11):c.11381T>A (p.Leu3794Ter)

SNV
Germline

Chr7:21864542

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA10582486

rs_878854435

1 SubmittersRCV000229548

NM_001277115.2(DNAH11):c.11967+5G>A

SNV
Germline

Chr7:21868996

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA10582487

rs_878854436

1 SubmittersRCV000226238

NM_001277115.2(DNAH11):c.13113G>A (p.Pro4371=)

SNV
Germline

Chr7:21899399

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4183299

rs_148707462

4 SubmittersRCV000227626 RCV003992243

NM_016616.5(NME8):c.610A>G (p.Ile204Val)

SNV
Germline

Chr7:37865606

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 6
Condition: not provided
NME8-related disorder
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4222275

rs_146777129

6 SubmittersRCV001086415 RCV000594581 RCV003929989 RCV002356306

NM_017802.4(DNAAF5):c.550C>A (p.Arg184Ser)

SNV
Germline

Chr7:727270

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 18
Condition: not provided
Congenital heart disease

Criteria Provided
Conflicting Classifications

CA10582538

rs_878855039

5 SubmittersRCV000227088 RCV000765976 RCV004692860 RCV005625471

NM_003114.5(SPAG1):c.205G>A (p.Ala69Thr)

SNV
Germline

Chr8:100165878

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 28
SPAG1-related disorder
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4827199

rs_149271265

4 SubmittersRCV000231674 RCV003907898 RCV002418030

NM_003114.5(SPAG1):c.1360G>C (p.Glu454Gln)

SNV
Germline

Chr8:100213353

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 28
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10582553

rs_878855237

2 SubmittersRCV000232428 RCV002379030

NM_003114.5(SPAG1):c.2714C>T (p.Ser905Leu)

SNV
Germline

Chr8:100240955

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 28
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4827851

rs_142031266

3 SubmittersRCV000226642 RCV002429139

NM_012144.4(DNAI1):c.912C>G (p.Tyr304Ter)

SNV
Germline

Chr9:34500732

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA10582661

rs_878854968

1 SubmittersRCV000232560

NM_012144.4(DNAI1):c.1307G>A (p.Trp436Ter)

SNV
Germline

Chr9:34506870

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Kartagener syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA5034342

rs_769284314

2 SubmittersRCV000228761 RCV002500798

NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter)

SNV
Germline

Chr9:34514468

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Kartagener syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA5034487

rs_200669099

6 SubmittersRCV000231603 RCV000763195

NM_012144.4(DNAI1):c.1929C>A (p.Ile643=)

SNV
Germline

Chr9:34517395

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Kartagener syndrome

Criteria Provided
Conflicting Classifications

CA5034584

rs_146434058

5 SubmittersRCV000226585 RCV000667669

NM_018076.5(ODAD2):c.883G>C (p.Val295Leu)

SNV
Germline

Chr10:27981519

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia 23
Primary ciliary dyskinesia
ODAD2-related disorder

Criteria Provided
Conflicting Classifications

CA5453690

rs_143215183

5 SubmittersRCV000228681 RCV001083031 RCV002461014 RCV003955362

NM_018139.3(DNAAF2):c.1405T>A (p.Cys469Ser)

SNV
Germline

Chr14:49633745

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 10
Condition: not provided
DNAAF2-related disorder

Criteria Provided
Conflicting Classifications

CA7172923

rs_202079418

6 SubmittersRCV000234267 RCV001094235 RCV003389768 RCV003947792

NM_018139.3(DNAAF2):c.824C>T (p.Ala275Val)

SNV
Germline

Chr14:49634326

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 10
DNAAF2-related disorder

Criteria Provided
Conflicting Classifications

CA7173023

rs_200291432

4 SubmittersRCV000225962 RCV001094080 RCV003967661

NM_178452.6(DNAAF1):c.1031-5A>T

SNV
Germline

Chr16:84169854

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Primary ciliary dyskinesia 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8202746

rs_79772571

8 SubmittersRCV000228003 RCV000249100 RCV001115555 RCV001529164

NM_178452.6(DNAAF1):c.1350G>A (p.Pro450=)

SNV
Germline

Chr16:84170178

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Primary ciliary dyskinesia 13

Criteria Provided
Conflicting Classifications

CA8202837

rs_148990251

5 SubmittersRCV000230555 RCV000245879 RCV001120254

NM_178452.6(DNAAF1):c.1495C>A (p.Pro499Thr)

SNV
Germline

Chr16:84170323

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 13
DNAAF1-related disorder

Criteria Provided
Conflicting Classifications

CA8202872

rs_201519478

4 SubmittersRCV000227306 RCV001094440 RCV003967671

NM_178452.6(DNAAF1):c.1698+1G>A

SNV
Germline

Chr16:84174723

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Primary ciliary dyskinesia 13
Condition: not provided
Heterotaxy
DNAAF1-related disorder

Criteria Provided
Conflicting Classifications

CA8202996

rs_139519641

9 SubmittersRCV000230981 RCV000825066 RCV000778482 RCV001553061 RCV001731543 RCV003919989

NM_178452.6(DNAAF1):c.2082C>T (p.Ala694=)

SNV
Germline

Chr16:84177745

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 13

Criteria Provided
Conflicting Classifications

CA8203160

rs_769877978

2 SubmittersRCV000228813 RCV001120651

NM_023036.6(DNAI2):c.759G>A (p.Ala253=)

SNV
Germline

Chr17:74299752

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Primary ciliary dyskinesia 9

Criteria Provided
Conflicting Classifications

CA8745487

rs_142656395

5 SubmittersRCV000229451 RCV000244008 RCV001094495

NM_023036.6(DNAI2):c.854C>T (p.Thr285Met)

SNV
Germline

Chr17:74299847

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8745508

rs_141079076

3 SubmittersRCV000232803 RCV003329268

NM_023036.6(DNAI2):c.1420G>A (p.Gly474Arg)

SNV
Germline

Chr17:74310089

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA10583671

rs_878855078

1 SubmittersRCV000234217

NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val)

SNV
Germline

Chr17:74312082

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Primary ciliary dyskinesia 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8745833

rs_145602856

7 SubmittersRCV000232038 RCV000613204 RCV001094498 RCV003417837

NM_023036.6(DNAI2):c.1644C>T (p.Ala548=)

SNV
Germline

Chr17:74312152

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 9
DNAI2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8745853

rs_9908476

7 SubmittersRCV000230112 RCV001124194 RCV003967663 RCV003422157

NM_017950.4(CCDC40):c.490G>A (p.Gly164Arg)

SNV
Germline

Chr17:80040208

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8813453

rs_770564150

2 SubmittersRCV000230462

NM_017950.4(CCDC40):c.1138G>A (p.Ala380Thr)

SNV
Germline

Chr17:80050262

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8813695

rs_199564182

2 SubmittersRCV000228173

NM_017950.4(CCDC40):c.2958C>T (p.Leu986=)

SNV
Germline

Chr17:80095388

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Primary ciliary dyskinesia 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8814560

rs_78945041

6 SubmittersRCV000228820 RCV000241848 RCV001122306 RCV003422155

NM_018076.5(ODAD2):c.2495+1G>A

SNV
Germline

Chr10:27935009

Pathogenic

Primary ciliary dyskinesia 23
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA10584010

rs_879253744

3 SubmittersRCV000234915 RCV000608160

NM_018076.5(ODAD2):c.2219G>A (p.Trp740Ter)

SNV
Germline

Chr10:27936759

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia 23
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA5453275

rs_201213030

5 SubmittersRCV000234856 RCV001579688

NM_018076.5(ODAD2):c.2014G>T (p.Glu672Ter)

SNV
Germline

Chr10:27939980

Pathogenic

Primary ciliary dyskinesia 23

Criteria Provided
Multiple Submitters
No Conflicts

CA5453327

rs_771920114

2 SubmittersRCV000234877

NM_018076.5(ODAD2):c.1969C>T (p.Gln657Ter)

SNV
Germline

Chr10:27940580

Pathogenic

Primary ciliary dyskinesia 23

Criteria Provided
Multiple Submitters
No Conflicts

CA10584011

rs_868755574

2 SubmittersRCV000234900

NM_153614.4(DNAJB13):c.833T>G (p.Met278Arg)

SNV
Germline

Chr11:73969996

Pathogenic

Primary ciliary dyskinesia 34

No Assertion Criteria Provided

CA10586323

rs_754776389

1 SubmittersRCV000239984

NM_153614.4(DNAJB13):c.68+1G>C

SNV
Germline

Chr11:73951138

Pathogenic

Primary ciliary dyskinesia 34

No Assertion Criteria Provided

CA10586324

rs_775700619

1 SubmittersRCV000240325

NM_031421.5(ODAD4):c.114+1G>T

SNV
Germline

Chr17:41930838

Pathogenic

Primary ciliary dyskinesia 35

No Assertion Criteria Provided

CA10586334

rs_886037888

1 SubmittersRCV000240603

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 SubmittersRCV000242620 RCV002518665 RCV001149887

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 SubmittersRCV000294522 RCV000247466 RCV001094924

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 SubmittersRCV000246808 RCV000370071 RCV001094894

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_001369.3(DNAH5):c.12367C>T (p.His4123Tyr)

SNV
Germline

Chr5:13719014

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3201662

rs_151145750

6 SubmittersRCV000253565 RCV000361695 RCV001094958

NM_001369.3(DNAH5):c.12279+6G>C

SNV
Germline

Chr5:13720994

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201695

rs_762179184

2 SubmittersRCV000251840 RCV000812834

NM_001369.3(DNAH5):c.11761+5A>G

SNV
Germline

Chr5:13735126

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3201861

rs_780205801

4 SubmittersRCV000307774 RCV000245193 RCV001095003

NM_001369.3(DNAH5):c.11571-9A>G

SNV
Germline

Chr5:13735330

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201905

rs_779715252

3 SubmittersRCV000249849 RCV000303992 RCV002058031

NM_001369.3(DNAH5):c.11570+13G>A

SNV
Germline

Chr5:13735805

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201922

rs_80199741

3 SubmittersRCV000248526 RCV000358718 RCV002519904

NM_001369.3(DNAH5):c.9941G>A (p.Arg3314His)

SNV
Germline

Chr5:13766136

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202373

rs_143858741

6 SubmittersRCV000250851 RCV000303574 RCV001095071

NM_001369.3(DNAH5):c.9681A>G (p.Lys3227=)

SNV
Germline

Chr5:13769540

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3202471

rs_138639741

7 SubmittersRCV000254406 RCV000861990 RCV001157366 RCV001731548

NM_001369.3(DNAH5):c.9244C>A (p.Leu3082Ile)

SNV
Germline

Chr5:13776568

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202588

rs_147372600

6 SubmittersRCV000243301 RCV001094979 RCV000300115

NM_001369.3(DNAH5):c.8805G>C (p.Met2935Ile)

SNV
Germline

Chr5:13786194

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202732

rs_77874614

4 SubmittersRCV000246854 RCV000549936 RCV001155773

NM_001369.3(DNAH5):c.8224+15G>A

SNV
Germline

Chr5:13793500

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202871

rs_148099176

4 SubmittersRCV000251149 RCV001157485 RCV002058042

NM_001369.3(DNAH5):c.7753-9C>G

SNV
Germline

Chr5:13807734

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203003

rs_377367981

3 SubmittersRCV000254187 RCV001155873 RCV000861757

NM_001369.3(DNAH5):c.6167A>T (p.Lys2056Ile)

SNV
Germline

Chr5:13830108

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3203466

rs_578128759

7 SubmittersRCV000245497 RCV001152215 RCV001082173 RCV000487618

NM_001369.3(DNAH5):c.5196G>T (p.Ala1732=)

SNV
Germline

Chr5:13844912

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3203765

rs_201484389

5 SubmittersRCV000245538 RCV000475780 RCV001152321 RCV003430803

NM_001369.3(DNAH5):c.4258A>G (p.Asn1420Asp)

SNV
Germline

Chr5:13865765

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3204035

rs_201841311

7 SubmittersRCV000247645 RCV000530786 RCV001153798 RCV001570739

NM_001369.3(DNAH5):c.3777G>A (p.Ala1259=)

SNV
Germline

Chr5:13870824

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3204177

rs_144893234

5 SubmittersRCV000251762 RCV000266448 RCV001095046

NM_001369.3(DNAH5):c.2708A>C (p.Asn903Thr)

SNV
Germline

Chr5:13885999

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204517

rs_749503841

4 SubmittersRCV000253527 RCV000456241

NM_001369.3(DNAH5):c.2577+5T>C

SNV
Germline

Chr5:13890971

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204553

rs_201596289

3 SubmittersRCV000249096 RCV002450772

NM_001369.3(DNAH5):c.2443T>A (p.Leu815Met)

SNV
Germline

Chr5:13891110

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3204582

rs_149654950

6 SubmittersRCV000244322 RCV000467062 RCV001154958 RCV003311732

NM_001369.3(DNAH5):c.2067T>C (p.His689=)

SNV
Germline

Chr5:13900398

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3204665

rs_140630779

3 SubmittersRCV000241812 RCV000862148 RCV001151161

NM_001369.3(DNAH5):c.1644+12A>G

SNV
Germline

Chr5:13911374

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204788

rs_201116549

4 SubmittersRCV000282674 RCV000248964 RCV002058035

NM_001369.3(DNAH5):c.299G>C (p.Gly100Ala)

SNV
Germline

Chr5:13923419

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3205215

rs_144236383

8 SubmittersRCV000244963 RCV000344003 RCV000514353 RCV001094959

NM_001369.3(DNAH5):c.-8C>T

SNV
Germline

Chr5:13944446

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3205318

rs_199528866

2 SubmittersRCV000250662 RCV001154439

NM_001010892.3(RSPH4A):c.675G>T (p.Ser225=)

SNV
Germline

Chr6:116617298

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3970804

rs_79327004

4 SubmittersRCV000243411 RCV000287901

NM_001010892.3(RSPH4A):c.1563T>C (p.Asn521=)

SNV
Germline

Chr6:116628270

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 11

Criteria Provided
Conflicting Classifications

CA3970973

rs_143732959

4 SubmittersRCV000253470 RCV002401956 RCV001154592

NM_001277115.2(DNAH11):c.982+8T>A

SNV
Germline

Chr7:21561178

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4178834

rs_72655978

3 SubmittersRCV000244153 RCV001491307 RCV002466480

NM_001277115.2(DNAH11):c.1053G>A (p.Glu351=)

SNV
Germline

Chr7:21564256

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA4178888

rs_201475447

4 SubmittersRCV000391804 RCV000243349

NM_001277115.2(DNAH11):c.1535T>A (p.Met512Lys)

SNV
Germline

Chr7:21571915

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179009

rs_72655984

4 SubmittersRCV000245838 RCV000266584

NM_001277115.2(DNAH11):c.2380G>A (p.Glu794Lys)

SNV
Germline

Chr7:21591290

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Condition: not provided
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4179322

rs_78653098

5 SubmittersRCV000341951 RCV000248365 RCV003437039 RCV005230196

NM_001277115.2(DNAH11):c.2783A>T (p.Asp928Val)

SNV
Germline

Chr7:21599902

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA4179433

rs_201386161

4 SubmittersRCV000459210 RCV001567623 RCV004529427

NM_001277115.2(DNAH11):c.3425+5C>G

SNV
Germline

Chr7:21601184

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179616

rs_776140118

3 SubmittersRCV000249727 RCV000284098

NM_001277115.2(DNAH11):c.3765C>T (p.Asp1255=)

SNV
Germline

Chr7:21606542

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4179731

rs_190062687

5 SubmittersRCV000247553 RCV000629544 RCV001764232 RCV005230197

NM_001277115.2(DNAH11):c.4202A>G (p.Gln1401Arg)

SNV
Germline

Chr7:21617725

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4179937

rs_199629774

5 SubmittersRCV000248567 RCV000274005 RCV003437040

NM_001277115.2(DNAH11):c.4491G>A (p.Glu1497=)

SNV
Germline

Chr7:21620069

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4180060

rs_564202359

6 SubmittersRCV000247144 RCV000373031 RCV001095255 RCV003437041

NM_001277115.2(DNAH11):c.4945-12T>C

SNV
Germline

Chr7:21655820

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180251

rs_141572016

4 SubmittersRCV000244624 RCV000295728

NM_001277115.2(DNAH11):c.4945-5T>G

SNV
Germline

Chr7:21655827

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10586974

rs_886038468

4 SubmittersRCV000249371 RCV001854956 RCV003327391

NM_001277115.2(DNAH11):c.5359T>C (p.Leu1787=)

SNV
Germline

Chr7:21681576

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180384

rs_75932225

3 SubmittersRCV000245700 RCV000322077

NM_001277115.2(DNAH11):c.5671C>T (p.Pro1891Ser)

SNV
Germline

Chr7:21687148

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4180512

rs_201704416

5 SubmittersRCV000244745 RCV000295597 RCV003437042

NM_001277115.2(DNAH11):c.5734A>G (p.Met1912Val)

SNV
Germline

Chr7:21687211

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10586976

rs_886038470

3 SubmittersRCV000247872 RCV003650557

NM_001277115.2(DNAH11):c.6468+14T>C

SNV
Germline

Chr7:21704642

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180820

rs_114409690

3 SubmittersRCV000244883 RCV000305188

NM_001277115.2(DNAH11):c.6607T>C (p.Leu2203=)

SNV
Germline

Chr7:21707759

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA4180908

rs_202012891

3 SubmittersRCV000403052 RCV000247810

NM_001277115.2(DNAH11):c.7266+5G>A

SNV
Germline

Chr7:21720861

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4181151

rs_149364992

3 SubmittersRCV000243794 RCV000865578 RCV001161978

NM_001277115.2(DNAH11):c.7332G>A (p.Pro2444=)

SNV
Germline

Chr7:21725876

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4181194

rs_28370951

5 SubmittersRCV000253318 RCV000342893 RCV005230199

NM_001277115.2(DNAH11):c.7334C>T (p.Ser2445Leu)

SNV
Germline

Chr7:21725878

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181195

rs_180970138

3 SubmittersRCV000245120 RCV001854957

NM_001277115.2(DNAH11):c.7441-19A>G

SNV
Germline

Chr7:21735621

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4181226

rs_10247099

4 SubmittersRCV000254459 RCV002058024 RCV005230200

NM_001277115.2(DNAH11):c.7626G>T (p.Thr2542=)

SNV
Germline

Chr7:21735825

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4181291

rs_2072221

5 SubmittersRCV000250868 RCV000306683 RCV001706327 RCV003114422

NM_001277115.2(DNAH11):c.7765G>A (p.Val2589Ile)

SNV
Germline

Chr7:21738820

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181340

rs_145239537

4 SubmittersRCV000247417 RCV000393969

NM_001277115.2(DNAH11):c.7812-18C>G

SNV
Germline

Chr7:21739553

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181369

rs_147865931

6 SubmittersRCV000242330 RCV000514259 RCV002058025

NM_001277115.2(DNAH11):c.8023A>G (p.Ile2675Val)

SNV
Germline

Chr7:21742035

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4181445

rs_72657364

6 SubmittersRCV000251849 RCV000299336 RCV001335807 RCV003437043

NM_001277115.2(DNAH11):c.8299G>A (p.Ala2767Thr)

SNV
Germline

Chr7:21744582

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA4181535

rs_200628085

3 SubmittersRCV000461622 RCV000243334

NM_001277115.2(DNAH11):c.9925-7T>C

SNV
Germline

Chr7:21789234

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182175

rs_146815254

3 SubmittersRCV000253709 RCV000280039

NM_001277115.2(DNAH11):c.9939G>A (p.Val3313=)

SNV
Germline

Chr7:21789255

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182178

rs_200349268

4 SubmittersRCV000250251 RCV000334909

NM_001277115.2(DNAH11):c.10692-7C>T

SNV
Germline

Chr7:21842537

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182463

rs_368833367

3 SubmittersRCV000243689 RCV001162361 RCV000528666

NM_001277115.2(DNAH11):c.10782G>A (p.Pro3594=)

SNV
Germline

Chr7:21842634

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4182487

rs_72657400

7 SubmittersRCV000253596 RCV000366124 RCV005230194 RCV003437038

NM_001277115.2(DNAH11):c.11254G>A (p.Asp3752Asn)

SNV
Germline

Chr7:21861904

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182680

rs_370395919

3 SubmittersRCV000251097 RCV003650555

NM_001277115.2(DNAH11):c.11508C>G (p.Val3836=)

SNV
Germline

Chr7:21866481

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182784

rs_199627577

4 SubmittersRCV000251723 RCV001159576 RCV002450771

NM_001277115.2(DNAH11):c.11805G>A (p.Pro3935=)

SNV
Germline

Chr7:21867973

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182873

rs_187489343

4 SubmittersRCV000252058 RCV000391629

NM_001277115.2(DNAH11):c.12505C>T (p.Leu4169=)

SNV
Germline

Chr7:21884408

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4183095

rs_764262245

4 SubmittersRCV000249701 RCV001159688 RCV002518608

NM_001277115.2(DNAH11):c.13076G>A (p.Arg4359Gln)

SNV
Germline

Chr7:21899362

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4183287

rs_113653972

6 SubmittersRCV000247626 RCV000300965 RCV003333965

NM_001277115.2(DNAH11):c.13257A>G (p.Gly4419=)

SNV
Germline

Chr7:21900074

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4183381

rs_200445638

5 SubmittersRCV000243241 RCV000360205 RCV005230195 RCV002058016

NM_001277115.2(DNAH11):c.13278A>G (p.Ala4426=)

SNV
Germline

Chr7:21900095

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4183390

rs_773266815

2 SubmittersRCV000253177 RCV000685303

NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=)

SNV
Germline

Chr7:21901008

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4183448

rs_150682314

8 SubmittersRCV000245209 RCV000726713 RCV000325201

NM_001277115.2(DNAH11):c.13548G>A (p.Ala4516=)

SNV
Germline

Chr7:21901251

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4183522

rs_147454485

4 SubmittersRCV000250463 RCV000861860 RCV001164820

NM_012472.6(DNAAF11):c.1391C>T (p.Pro464Leu)

SNV
Germline

Chr8:132572316

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia 19
Primary ciliary dyskinesia
Condition: not provided
Multiple sclerosis, susceptibility to

Criteria Provided
Conflicting Classifications

CA4881072

rs_139131485

7 SubmittersRCV000243911 RCV001085911 RCV002461049 RCV000767176 RCV001823000

NM_012472.6(DNAAF11):c.1245A>G (p.Lys415=)

SNV
Germline

Chr8:132572462

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia 19
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4881092

rs_149631064

4 SubmittersRCV000247518 RCV000526419 RCV002461047

NM_012472.6(DNAAF11):c.1162G>A (p.Gly388Ser)

SNV
Germline

Chr8:132583758

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 19
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4881135

rs_77289466

6 SubmittersRCV000252589 RCV000391294 RCV000551113 RCV002285295

NM_012472.6(DNAAF11):c.408A>G (p.Val136=)

SNV
Germline

Chr8:132637956

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia 19

Criteria Provided
Conflicting Classifications

CA4881390

rs_762081490

3 SubmittersRCV000243610 RCV001164737

NM_012144.4(DNAI1):c.180G>A (p.Ala60=)

SNV
Germline

Chr9:34485240

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
DNAI1-related disorder
Kartagener syndrome

Criteria Provided
Conflicting Classifications

CA5033945

rs_201120508

6 SubmittersRCV000538706 RCV001753725 RCV004584648 RCV005044504

NM_018139.3(DNAAF2):c.1494G>A (p.Ser498=)

SNV
Germline

Chr14:49633656

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 10
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7172901

rs_2985688

7 SubmittersRCV000241963 RCV000354512 RCV001094152 RCV003884437

NM_018139.3(DNAAF2):c.384C>A (p.Gly128=)

SNV
Germline

Chr14:49634766

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia 10
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA7173121

rs_200484042

3 SubmittersRCV000251344 RCV001112304 RCV001418278

NM_018139.3(DNAAF2):c.58G>C (p.Val20Leu)

SNV
Germline

Chr14:49635092

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA7173165

rs_572322476

3 SubmittersRCV000253494 RCV000792505

NM_031427.4(DNAL1):c.43-4A>G

SNV
Germline

Chr14:73658843

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia 16

Criteria Provided
Conflicting Classifications

CA7261409

rs_748496499

2 SubmittersRCV000250498 RCV000557911

NM_178452.6(DNAAF1):c.507G>C (p.Leu169=)

SNV
Germline

Chr16:84154731

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 13
not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8202513

rs_370128838

5 SubmittersRCV000313239 RCV000247163 RCV001443438

NM_178452.6(DNAAF1):c.1227T>G (p.Gly409=)

SNV
Germline

Chr16:84170055

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia 13
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8202795

rs_148674729

5 SubmittersRCV000248811 RCV001116985 RCV000460139

NM_178452.6(DNAAF1):c.1299C>T (p.Asp433=)

SNV
Germline

Chr16:84170127

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 13

Criteria Provided
Conflicting Classifications

CA8202818

rs_141074491

4 SubmittersRCV000245365 RCV000477474 RCV001120252

NM_178452.6(DNAAF1):c.1496C>T (p.Pro499Leu)

SNV
Germline

Chr16:84170324

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 13

Criteria Provided
Conflicting Classifications

CA8202873

rs_112114400

4 SubmittersRCV000250607 RCV000476717 RCV001120554

NM_178452.6(DNAAF1):c.1718T>C (p.Ile573Thr)

SNV
Germline

Chr16:84175952

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8203017

rs_137862641

3 SubmittersRCV000251600 RCV000861555 RCV002285301

NM_023036.6(DNAI2):c.43G>A (p.Gly15Arg)

SNV
Germline

Chr17:74281860

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8745232

rs_758997612

2 SubmittersRCV000241834 RCV002518653

NM_023036.6(DNAI2):c.754G>A (p.Val252Met)

SNV
Germline

Chr17:74299747

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 9

Criteria Provided
Conflicting Classifications

CA8745484

rs_140326154

8 SubmittersRCV000253831 RCV000724929 RCV001257056 RCV001124101

NM_023036.6(DNAI2):c.1380G>T (p.Val460=)

SNV
Germline

Chr17:74310049

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 9

Criteria Provided
Conflicting Classifications

CA8745767

rs_148947094

4 SubmittersRCV000249578 RCV000471278 RCV001123105

NM_023036.6(DNAI2):c.1715C>T (p.Pro572Leu)

SNV
Germline

Chr17:74312223

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 9
not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8745871

rs_151241589

7 SubmittersRCV000660505 RCV000253780 RCV000629582

NM_017950.4(CCDC40):c.384A>G (p.Ala128=)

SNV
Germline

Chr17:80040102

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia 15
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8813428

rs_375586063

4 SubmittersRCV000246104 RCV001122017 RCV000866028

NM_017950.4(CCDC40):c.470C>T (p.Thr157Ile)

SNV
Germline

Chr17:80040188

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8813446

rs_755159452

2 SubmittersRCV000251033 RCV002328746

NM_017950.4(CCDC40):c.850G>C (p.Asp284His)

SNV
Germline

Chr17:80048756

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 15
Male infertility
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8813582

rs_201042940

8 SubmittersRCV000244307 RCV000399959 RCV001094519 RCV001283738 RCV001544955

NM_017950.4(CCDC40):c.856-18G>A

SNV
Germline

Chr17:80049888

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 15

Criteria Provided
Conflicting Classifications

CA8813605

rs_189118723

4 SubmittersRCV000248873 RCV000514712 RCV002058281 RCV005230208

NM_017950.4(CCDC40):c.1531G>C (p.Glu511Gln)

SNV
Germline

Chr17:80065575

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8813877

rs_59978698

2 SubmittersRCV000250370 RCV002401959

NM_017950.4(CCDC40):c.2227G>A (p.Glu743Lys)

SNV
Germline

Chr17:80084980

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia 15
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8814135

rs_201166295

5 SubmittersRCV000252684 RCV001122216 RCV000861600

NM_017950.4(CCDC40):c.2251C>A (p.Pro751Thr)

SNV
Germline

Chr17:80086018

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 15

Criteria Provided
Conflicting Classifications

CA8814156

rs_141343307

5 SubmittersRCV000243481 RCV000370474 RCV001094509

NM_017950.4(CCDC40):c.2332C>T (p.Leu778=)

SNV
Germline

Chr17:80086099

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 15

Criteria Provided
Conflicting Classifications

CA8814172

rs_202075842

4 SubmittersRCV000243354 RCV000262762 RCV001094512

NM_017950.4(CCDC40):c.2892G>A (p.Ala964=)

SNV
Germline

Chr17:80095322

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8814541

rs_146360951

5 SubmittersRCV000242772 RCV000345223 RCV001094547 RCV003422177

NM_017950.4(CCDC40):c.2900G>A (p.Arg967His)

SNV
Germline

Chr17:80095330

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8814543

rs_61686936

7 SubmittersRCV000247767 RCV000400322 RCV001094548 RCV001549870

NM_017950.4(CCDC40):c.3027C>T (p.Thr1009=)

SNV
Germline

Chr17:80097250

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 15

Criteria Provided
Conflicting Classifications

CA8814610

rs_79588289

4 SubmittersRCV000248815 RCV000465786 RCV001122310

NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile)

SNV
Germline

Chr17:80097269

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8814614

rs_117307093

9 SubmittersRCV000243717 RCV000355943 RCV001094515 RCV001573244

NM_017950.4(CCDC40):c.3109C>G (p.Leu1037Val)

SNV
Germline

Chr17:80097332

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10587286

rs_886038640

2 SubmittersRCV000249092 RCV000629501

NM_017950.4(CCDC40):c.*17C>T

SNV
Germline

Chr17:80099792

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia 15

Criteria Provided
Conflicting Classifications

CA8814736

rs_202179507

2 SubmittersRCV000252037 RCV001126070

NM_001364171.2(ODAD1):c.1481C>T (p.Pro494Leu)

SNV
Germline

Chr19:48298021

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9548682

rs_148823991

6 SubmittersRCV000243117 RCV000477535 RCV003422182

NM_001364171.2(ODAD1):c.626G>A (p.Ser209Asn)

SNV
Germline

Chr19:48306295

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Condition: not provided
Fraser syndrome 3

Criteria Provided
Conflicting Classifications

CA9549015

rs_367799104

5 SubmittersRCV000250979 RCV001241549 RCV003314585 RCV001251019

NM_001369.3(DNAH5):c.10441C>T (p.Arg3481Ter)

SNV
Germline

Chr5:13754317

Pathogenic/Likely pathogenic

Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA10588392

rs_886039500

7 SubmittersRCV000255126 RCV001216552 RCV003137869

NM_001277115.2(DNAH11):c.5924+1G>C

SNV
Germline

Chr7:21687528

Pathogenic

Primary ciliary dyskinesia
Condition: not provided
DNAH11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10588422

rs_886039340

3 SubmittersRCV000629338 RCV000255847 RCV004535234

NM_001277115.2(DNAH11):c.10691+2T>C

SNV
Germline

Chr7:21818341

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10588423

rs_886039341

3 SubmittersRCV000778827 RCV000254927 RCV002518749

NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu)

SNV
Germline

Chr5:13780935

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
See cases

Criteria Provided
Conflicting Classifications

CA3202691

rs_147688221

13 SubmittersRCV000405261 RCV000665445 RCV001084271 RCV004584378

NM_001277115.2(DNAH11):c.9499A>C (p.Thr3167Pro)

SNV
Germline

Chr7:21784442

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4182012

rs_202224167

6 SubmittersRCV000394667 RCV000538754 RCV003144190

NM_001034853.2(RPGR):c.1709C>T (p.Thr570Met)

SNV
Germline

ChrX:38287905

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10385419

rs_202154504

2 SubmittersRCV000367495 RCV002518820

NM_001277115.2(DNAH11):c.12509C>G (p.Thr4170Ser)

SNV
Germline

Chr7:21892426

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4183111

rs_12537531

3 SubmittersRCV000279310 RCV001078867 RCV001161099

NM_017950.4(CCDC40):c.855+4A>G

SNV
Germline

Chr17:80048765

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8813586

rs_138001923

2 SubmittersRCV000351781 RCV001087054

NM_001256715.2(DNAAF3):c.1251C>T (p.Asp417=)

SNV
Germline

Chr19:55159437

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA9667817

rs_779990994

3 SubmittersRCV000383745 RCV003535682

NM_178452.6(DNAAF1):c.735C>T (p.Pro245=)

SNV
Germline

Chr16:84155743

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8202584

rs_139566676

3 SubmittersRCV000368296 RCV001084792

NM_001277115.2(DNAH11):c.1220A>C (p.Asp407Ala)

SNV
Germline

Chr7:21570094

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4178937

rs_780042783

4 SubmittersRCV000333546 RCV003650567 RCV005230226

NM_001277115.2(DNAH11):c.9706C>T (p.Arg3236Ter)

SNV
Germline

Chr7:21786732

Pathogenic/Likely pathogenic

Condition: not provided
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA4182077

rs_753101269

2 SubmittersRCV000386396 RCV005252857

NM_017950.4(CCDC40):c.2911G>A (p.Val971Ile)

SNV
Germline

Chr17:80095341

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8814549

rs_746632559

4 SubmittersRCV000476575 RCV000725355

NM_001277115.2(DNAH11):c.571C>T (p.His191Tyr)

SNV
Germline

Chr7:21558877

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178716

rs_562163349

2 SubmittersRCV000279404 RCV001314631

NM_001369.3(DNAH5):c.8925C>T (p.Tyr2975=)

SNV
Germline

Chr5:13780855

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202673

rs_755490391

3 SubmittersRCV000357836 RCV001088517

NM_001369.3(DNAH5):c.8030G>A (p.Arg2677Gln)

SNV
Germline

Chr5:13793709

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA10605536

rs_886043448

5 SubmittersRCV000369132 RCV000558292 RCV001257434

NM_178452.6(DNAAF1):c.1567G>A (p.Val523Ile)

SNV
Germline

Chr16:84172298

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Primary ciliary dyskinesia 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8202922

rs_148387367

5 SubmittersRCV000311050 RCV000403609 RCV001094260 RCV002244736

NM_001256715.2(DNAAF3):c.1256G>A (p.Arg419Gln)

SNV
Germline

Chr19:55159432

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA9667814

rs_373489149

3 SubmittersRCV000360264 RCV001087282

NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln)

SNV
Germline

Chr5:13864632

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203993

rs_542708170

7 SubmittersRCV000266533 RCV000477841 RCV001247795

NM_001277115.2(DNAH11):c.9572C>T (p.Thr3191Ile)

SNV
Germline

Chr7:21784515

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182028

rs_760597183

2 SubmittersRCV000286665 RCV003650571

NM_003611.3(OFD1):c.276T>C (p.Ser92=)

SNV
Germline

ChrX:13736642

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Orofaciodigital syndrome I
OFD1-related disorder
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351553

rs_201675886

4 SubmittersRCV000334639 RCV002059241 RCV004535414 RCV004021254

NM_017950.4(CCDC40):c.2968G>A (p.Asp990Asn)

SNV
Germline

Chr17:80095398

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 15
CCDC40-related disorder

Criteria Provided
Conflicting Classifications

CA8814566

rs_200958035

5 SubmittersRCV000397708 RCV001082104 RCV001122308 RCV003977801

NM_001369.3(DNAH5):c.10784C>T (p.Thr3595Met)

SNV
Germline

Chr5:13753321

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10606127

rs_886043929

3 SubmittersRCV000312632 RCV003352823

NM_012144.4(DNAI1):c.1703G>C (p.Trp568Ser)

SNV
Germline

Chr9:34514527

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
Kartagener syndrome

Criteria Provided
Conflicting Classifications

CA5034499

rs_772686744

5 SubmittersRCV000379019 RCV000539548 RCV005044547

NM_001277115.2(DNAH11):c.4818-2A>G

SNV
Germline

Chr7:21638937

Pathogenic/Likely pathogenic

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA10606412

rs_886044152

2 SubmittersRCV000384183 RCV005090394

NM_001277115.2(DNAH11):c.6727C>T (p.Arg2243Ter)

SNV
Germline

Chr7:21710596

Pathogenic

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4180969

rs_201943194

9 SubmittersRCV000289819 RCV000461399 RCV000726312

NM_001034853.2(RPGR):c.1387C>T (p.Gln463Ter)

SNV
Germline

ChrX:38297311

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA10606591

rs_886044302

3 SubmittersRCV000395068 RCV001074090 RCV002518106

NM_001364171.2(ODAD1):c.1222C>A (p.Leu408Met)

SNV
Germline

Chr19:48302712

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA9548778

rs_150271983

3 SubmittersRCV000303948 RCV001220709

NM_001364171.2(ODAD1):c.361-10T>C

SNV
Germline

Chr19:48312126

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA9549058

rs_141961809

2 SubmittersRCV000360978 RCV001087518

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.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 SubmittersRCV000335489 RCV002057870

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 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

2 SubmittersRCV000380806 RCV003114503

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 SubmittersRCV000601626 RCV000404264 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
CCDC39-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2716064

rs_61733577

5 SubmittersRCV000270726 RCV001094895 RCV003972455 RCV002259338

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_001369.3(DNAH5):c.13817C>A (p.Ala4606Asp)

SNV
Germline

Chr5:13692042

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201233

rs_770244453

3 SubmittersRCV000294020 RCV002520312

NM_001369.3(DNAH5):c.10640G>A (p.Arg3547Gln)

SNV
Germline

Chr5:13753465

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202164

rs_779977337

2 SubmittersRCV000331162 RCV002520317

NM_001369.3(DNAH5):c.10066T>C (p.Leu3356=)

SNV
Germline

Chr5:13766011

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
DNAH5-related disorder
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3202341

rs_138441172

6 SubmittersRCV000343231 RCV003912495 RCV001095009 RCV005256602

NM_001369.3(DNAH5):c.10036A>G (p.Thr3346Ala)

SNV
Germline

Chr5:13766041

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202347

rs_141971313

5 SubmittersRCV000401175 RCV001095070

NM_001369.3(DNAH5):c.8726G>A (p.Arg2909His)

SNV
Germline

Chr5:13786273

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202756

rs_756069405

3 SubmittersRCV000370323 RCV001255318

NM_001369.3(DNAH5):c.8725C>T (p.Arg2909Cys)

SNV
Germline

Chr5:13786274

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202757

rs_369744828

2 SubmittersRCV000273353 RCV002520318

NM_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg)

SNV
Germline

Chr5:13793944

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA3202939

rs_147236883

8 SubmittersRCV000378200 RCV001094982 RCV000591046 RCV003932438

NM_001369.3(DNAH5):c.7923T>G (p.Gly2641=)

SNV
Germline

Chr5:13794023

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202953

rs_748304927

2 SubmittersRCV000281416 RCV001501472

NM_001369.3(DNAH5):c.7452C>A (p.Phe2484Leu)

SNV
Germline

Chr5:13810216

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203090

rs_561666802

2 SubmittersRCV000279808 RCV002520319

NM_001369.3(DNAH5):c.7206C>A (p.Ile2402=)

SNV
Germline

Chr5:13814629

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10619106

rs_747529694

2 SubmittersRCV000368778 RCV002061254

NM_001369.3(DNAH5):c.5643G>A (p.Thr1881=)

SNV
Germline

Chr5:13840972

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA3203621

rs_150429110

4 SubmittersRCV000291049 RCV001095121 RCV003957816

NM_001369.3(DNAH5):c.5425G>A (p.Ala1809Thr)

SNV
Germline

Chr5:13841751

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203678

rs_758513686

3 SubmittersRCV000286231 RCV002348104

NM_001369.3(DNAH5):c.4703G>A (p.Arg1568His)

SNV
Germline

Chr5:13862641

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3203909

rs_200994058

4 SubmittersRCV000306730 RCV001094993

NM_001369.3(DNAH5):c.4596+5A>C

SNV
Germline

Chr5:13864392

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA3203942

rs_182677317

5 SubmittersRCV000292300 RCV001095082 RCV003437118 RCV003950244

NM_001369.3(DNAH5):c.2400G>A (p.Glu800=)

SNV
Germline

Chr5:13894681

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3204605

rs_199951976

5 SubmittersRCV000368246 RCV001095052

NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp)

SNV
Germline

Chr5:13902068

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3204763

rs_137878131

12 SubmittersRCV000336304 RCV000825330 RCV000765816 RCV001770279

NM_001369.3(DNAH5):c.946C>T (p.Leu316Phe)

SNV
Germline

Chr5:13919205

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3205031

rs_201706790

3 SubmittersRCV000371569 RCV001095059

NM_001369.3(DNAH5):c.13072C>T (p.Arg4358Trp)

SNV
Germline

Chr5:13714458

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201458

rs_753960777

4 SubmittersRCV000264300 RCV001309468

NM_001369.3(DNAH5):c.13070C>G (p.Ala4357Gly)

SNV
Germline

Chr5:13714460

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201460

rs_368776967

4 SubmittersRCV000378813 RCV000596408 RCV002520314

NM_001369.3(DNAH5):c.12500-11G>A

SNV
Germline

Chr5:13717531

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201607

rs_200056509

2 SubmittersRCV000301182 RCV002058508

NM_001369.3(DNAH5):c.11586G>A (p.Pro3862=)

SNV
Germline

Chr5:13735306

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
not specified

Criteria Provided
Conflicting Classifications

CA3201898

rs_755874851

5 SubmittersRCV000393714 RCV001095005 RCV005434862

NM_001369.3(DNAH5):c.5848A>G (p.Thr1950Ala)

SNV
Germline

Chr5:13839390

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203561

rs_368863709

3 SubmittersRCV000670281 RCV002520320

NM_001369.3(DNAH5):c.4707A>G (p.Gly1569=)

SNV
Germline

Chr5:13862637

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10620251

rs_886059985

2 SubmittersRCV000272615 RCV002058510

NM_001369.3(DNAH5):c.3650T>C (p.Ile1217Thr)

SNV
Germline

Chr5:13870951

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA3204207

rs_112124692

6 SubmittersRCV000262746 RCV001095085 RCV002466489 RCV003902362

NM_001369.3(DNAH5):c.3179A>T (p.Lys1060Met)

SNV
Germline

Chr5:13882811

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3204354

rs_145672251

7 SubmittersRCV000288879 RCV001095000 RCV001584067

NM_001369.3(DNAH5):c.3084A>G (p.Glu1028=)

SNV
Germline

Chr5:13882994

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3204400

rs_766451124

2 SubmittersRCV000384642 RCV001095025

NM_001369.3(DNAH5):c.2203G>C (p.Ala735Pro)

SNV
Germline

Chr5:13900262

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204644

rs_150793327

2 SubmittersRCV000384177 RCV002520323

NM_001369.3(DNAH5):c.1475C>A (p.Thr492Lys)

SNV
Germline

Chr5:13913804

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3204844

rs_189145014

4 SubmittersRCV000314410 RCV001246219 RCV005256603

NM_001369.3(DNAH5):c.393C>T (p.Ile131=)

SNV
Germline

Chr5:13923325

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA3205195

rs_202190908

3 SubmittersRCV000387751 RCV001095093 RCV003897793

NM_001010892.3(RSPH4A):c.930C>T (p.Asn310=)

SNV
Germline

Chr6:116627637

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 11

Criteria Provided
Conflicting Classifications

CA3970868

rs_180881714

4 SubmittersRCV000396720 RCV001094961

NM_001010892.3(RSPH4A):c.1990C>T (p.Pro664Ser)

SNV
Germline

Chr6:116632280

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 11
Condition: not provided
RSPH4A-related disorder

Criteria Provided
Conflicting Classifications

CA3971101

rs_146142715

4 SubmittersRCV000271851 RCV001095101 RCV000598056 RCV003932466

NM_001369.3(DNAH5):c.13672A>G (p.Lys4558Glu)

SNV
Germline

Chr5:13700691

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3201285

rs_752010216

6 SubmittersRCV000315624 RCV001094951 RCV004695832

NM_001369.3(DNAH5):c.11349C>T (p.Val3783=)

SNV
Germline

Chr5:13737358

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA3201994

rs_774415631

4 SubmittersRCV000355744 RCV001472305 RCV003922546

NM_001369.3(DNAH5):c.10593T>A (p.Ser3531=)

SNV
Germline

Chr5:13753512

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202170

rs_200974254

3 SubmittersRCV000385697 RCV001094975

NM_001369.3(DNAH5):c.10556-15T>C

SNV
Germline

Chr5:13753564

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202182

rs_754992743

2 SubmittersRCV000291711 RCV003535692

NM_001369.3(DNAH5):c.13155A>T (p.Pro4385=)

SNV
Germline

Chr5:13708306

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3201433

rs_202103048

4 SubmittersRCV000356653 RCV001094955

NM_001369.3(DNAH5):c.13005C>T (p.Thr4335=)

SNV
Germline

Chr5:13714525

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201479

rs_755271975

4 SubmittersRCV000286802

NM_001369.3(DNAH5):c.12937G>C (p.Val4313Leu)

SNV
Germline

Chr5:13714593

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201488

rs_769666008

3 SubmittersRCV000325468 RCV002523505

NM_001369.3(DNAH5):c.12546G>A (p.Lys4182=)

SNV
Germline

Chr5:13717474

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA3201598

rs_146330391

3 SubmittersRCV000391520 RCV001432231 RCV003970017

NM_001369.3(DNAH5):c.12396C>T (p.Thr4132=)

SNV
Germline

Chr5:13718985

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201652

rs_776715085

2 SubmittersRCV000304708 RCV001465695

NM_001369.3(DNAH5):c.12234C>T (p.Gly4078=)

SNV
Germline

Chr5:13721045

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10622710

rs_886059967

2 SubmittersRCV000332702 RCV002520315

NM_001369.3(DNAH5):c.11694G>T (p.Leu3898Phe)

SNV
Germline

Chr5:13735198

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3201872

rs_200798994

5 SubmittersRCV000343991 RCV001095004 RCV005241356

NM_001369.3(DNAH5):c.11463G>A (p.Thr3821=)

SNV
Germline

Chr5:13735925

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA3201947

rs_200744540

4 SubmittersRCV000263973 RCV001095067 RCV003957815

NM_001369.3(DNAH5):c.8273A>C (p.Glu2758Ala)

SNV
Germline

Chr5:13792169

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202852

rs_527914224

4 SubmittersRCV000327201 RCV001095111

NM_001369.3(DNAH5):c.7684A>T (p.Ile2562Phe)

SNV
Germline

Chr5:13809112

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3203026

rs_151287187

7 SubmittersRCV000398949 RCV001095078 RCV005415565

NM_001369.3(DNAH5):c.7091G>C (p.Gly2364Ala)

SNV
Germline

Chr5:13814744

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3203184

rs_373657849

4 SubmittersRCV002365418 RCV000660416

NM_001369.3(DNAH5):c.6956C>T (p.Thr2319Met)

SNV
Germline

Chr5:13817580

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA3203229

rs_144983881

4 SubmittersRCV000362455 RCV001094985 RCV003912496

NM_001369.3(DNAH5):c.6791G>A (p.Ser2264Asn)

SNV
Germline

Chr5:13820396

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3203278

rs_78484669

1 SubmittersRCV000807221

NM_001369.3(DNAH5):c.6230T>C (p.Phe2077Ser)

SNV
Germline

Chr5:13830045

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3203461

rs_141196027

4 SubmittersRCV000360369 RCV001094989

NM_001369.3(DNAH5):c.4139G>A (p.Arg1380Gln)

SNV
Germline

Chr5:13865884

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204050

rs_779980906

2 SubmittersRCV000295196

NM_001369.3(DNAH5):c.3643G>C (p.Val1215Leu)

SNV
Germline

Chr5:13870958

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204211

rs_763448297

2 SubmittersRCV000317984 RCV002520322

NM_001369.3(DNAH5):c.2431+5G>A

SNV
Germline

Chr5:13894645

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3
not specified
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA3204595

rs_369244905

7 SubmittersRCV000311206 RCV000489824 RCV001095051 RCV005418093 RCV004742396

NM_001369.3(DNAH5):c.1341C>T (p.His447=)

SNV
Germline

Chr5:13913938

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10622782

rs_886060014

2 SubmittersRCV000273143 RCV002061255

NM_001369.3(DNAH5):c.1090-6T>C

SNV
Germline

Chr5:13916461

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10622783

rs_886060015

2 SubmittersRCV000267248 RCV003650575

NM_001369.3(DNAH5):c.967C>T (p.Leu323=)

SNV
Germline

Chr5:13919184

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3205024

rs_746109550

3 SubmittersRCV000323971 RCV001435868

NM_001369.3(DNAH5):c.535A>G (p.Thr179Ala)

SNV
Germline

Chr5:13922232

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3205158

rs_755082450

2 SubmittersRCV000292355 RCV002520324

NM_001369.3(DNAH5):c.465G>A (p.Ala155=)

SNV
Germline

Chr5:13922302

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3205170

rs_763709302

3 SubmittersRCV000349615 RCV001095092

NM_001369.3(DNAH5):c.8765G>A (p.Arg2922His)

SNV
Germline

Chr5:13786234

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202744

rs_148539877

4 SubmittersRCV000260521 RCV001241887

NM_001010892.3(RSPH4A):c.237A>G (p.Thr79=)

SNV
Germline

Chr6:116616860

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 11

Criteria Provided
Conflicting Classifications

CA3970725

rs_145831200

3 SubmittersRCV000385358 RCV001095096

NM_001010892.3(RSPH4A):c.2101G>C (p.Glu701Gln)

SNV
Germline

Chr6:116632391

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 11
Condition: not provided
Primary ciliary dyskinesia
RSPH4A-related disorder

Criteria Provided
Conflicting Classifications

CA3971115

rs_140660854

6 SubmittersRCV000381582 RCV000593752 RCV002058555 RCV003972491

NM_001369.3(DNAH5):c.8268A>C (p.Ser2756=)

SNV
Germline

Chr5:13792174

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202853

rs_775185371

4 SubmittersRCV000379430 RCV001095112

NM_001369.3(DNAH5):c.8099T>C (p.Ile2700Thr)

SNV
Germline

Chr5:13793640

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202898

rs_760739660

2 SubmittersRCV000287171 RCV002058509

NM_001369.3(DNAH5):c.6018T>C (p.Cys2006=)

SNV
Germline

Chr5:13830640

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3203508

rs_368456533

4 SubmittersRCV000302335 RCV001095017

NM_001369.3(DNAH5):c.5472C>T (p.Ser1824=)

SNV
Germline

Chr5:13841704

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203670

rs_372046349

2 SubmittersRCV000382876 RCV001461186

NM_001369.3(DNAH5):c.4338C>G (p.Leu1446=)

SNV
Germline

Chr5:13865685

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3204015

rs_377432140

4 SubmittersRCV000355193 RCV001094994

NM_001369.3(DNAH5):c.4054-4T>C

SNV
Germline

Chr5:13866286

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3204092

rs_200608915

3 SubmittersRCV000397256 RCV001095125

NM_001369.3(DNAH5):c.3733C>T (p.Arg1245Cys)

SNV
Germline

Chr5:13870868

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3204189

rs_149609746

5 SubmittersRCV000353133 RCV001095084

NM_001369.3(DNAH5):c.1870G>A (p.Ala624Thr)

SNV
Germline

Chr5:13901434

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10622891

rs_373727231

2 SubmittersRCV000282915 RCV001850859

NM_001369.3(DNAH5):c.1362A>G (p.Lys454=)

SNV
Germline

Chr5:13913917

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3204869

rs_371157628

4 SubmittersRCV000365396 RCV001095090

NM_001277115.2(DNAH11):c.447A>G (p.Gly149=)

SNV
Germline

Chr7:21545101

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10623599

rs_886062170

2 SubmittersRCV000318023

NM_001277115.2(DNAH11):c.2156A>G (p.Asn719Ser)

SNV
Germline

Chr7:21589390

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179233

rs_551038953

3 SubmittersRCV000375086

NM_001277115.2(DNAH11):c.2824C>A (p.Pro942Thr)

SNV
Germline

Chr7:21599943

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4179446

rs_189569144

6 SubmittersRCV000278005 RCV000858614

NM_001277115.2(DNAH11):c.3422A>T (p.Asp1141Val)

SNV
Germline

Chr7:21601176

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179613

rs_373365959

3 SubmittersRCV000378405

NM_001277115.2(DNAH11):c.5157A>G (p.Thr1719=)

SNV
Germline

Chr7:21658860

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180324

rs_149538783

2 SubmittersRCV000356623

NM_001277115.2(DNAH11):c.5519C>T (p.Thr1840Ile)

SNV
Germline

Chr7:21683842

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4180464

rs_374351807

5 SubmittersRCV000272871 RCV000764702 RCV002264931

NM_001277115.2(DNAH11):c.6274-5T>C

SNV
Germline

Chr7:21704429

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
DNAH11-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA4180773

rs_74365849

5 SubmittersRCV000279094 RCV004737456 RCV004586692

NM_001277115.2(DNAH11):c.6867A>G (p.Ala2289=)

SNV
Germline

Chr7:21711744

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181029

rs_745494770

2 SubmittersRCV000387114

NM_001277115.2(DNAH11):c.7292G>T (p.Ser2431Ile)

SNV
Germline

Chr7:21725836

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181182

rs_185039462

2 SubmittersRCV000372086

NM_001277115.2(DNAH11):c.8521A>G (p.Ser2841Gly)

SNV
Germline

Chr7:21748590

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA4181635

rs_199789835

6 SubmittersRCV000321005 RCV003114514 RCV003437125 RCV004530451

NM_001277115.2(DNAH11):c.8533C>G (p.Arg2845Gly)

SNV
Germline

Chr7:21748602

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4181638

rs_121908854

7 SubmittersRCV000378006 RCV001731634 RCV002466491

NM_001277115.2(DNAH11):c.8534G>A (p.Arg2845Gln)

SNV
Germline

Chr7:21748603

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181639

rs_372633683

2 SubmittersRCV000290418

NM_001277115.2(DNAH11):c.8572G>A (p.Gly2858Ser)

SNV
Germline

Chr7:21748641

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181647

rs_201501951

3 SubmittersRCV000347664

NM_001277115.2(DNAH11):c.8888C>A (p.Ser2963Tyr)

SNV
Germline

Chr7:21750312

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4181771

rs_374033085

6 SubmittersRCV000289296 RCV002272215 RCV003437126

NM_001277115.2(DNAH11):c.8972C>T (p.Thr2991Met)

SNV
Germline

Chr7:21765459

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181807

rs_375595192

3 SubmittersRCV000398962

NM_001277115.2(DNAH11):c.9013T>C (p.Cys3005Arg)

SNV
Germline

Chr7:21765500

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181817

rs_369196786

2 SubmittersRCV000392966

NM_001277115.2(DNAH11):c.9312A>G (p.Gln3104=)

SNV
Germline

Chr7:21773975

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10623627

rs_886062181

2 SubmittersRCV000327364

NM_001277115.2(DNAH11):c.9773A>G (p.Tyr3258Cys)

SNV
Germline

Chr7:21787432

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA4182112

rs_182808328

4 SubmittersRCV000292972 RCV004530452

NM_001277115.2(DNAH11):c.10573T>C (p.Leu3525=)

SNV
Germline

Chr7:21818221

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10623632

rs_886062182

2 SubmittersRCV000391227

NM_001277115.2(DNAH11):c.11546G>T (p.Gly3849Val)

SNV
Germline

Chr7:21866519

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4182793

rs_145735492

4 SubmittersRCV000391631 RCV002481234

NM_001277115.2(DNAH11):c.13162+12C>T

SNV
Germline

Chr7:21899460

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4183318

rs_191638909

2 SubmittersRCV000265911

NM_001277115.2(DNAH11):c.-27C>A

SNV
Germline

Chr7:21543219

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4178605

rs_72655966

2 SubmittersRCV000405390 RCV001574469

NM_001277115.2(DNAH11):c.845T>C (p.Met282Thr)

SNV
Germline

Chr7:21559755

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178794

rs_747087320

2 SubmittersRCV000345115

NM_001277115.2(DNAH11):c.891A>G (p.Ala297=)

SNV
Germline

Chr7:21561079

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178819

rs_201934527

3 SubmittersRCV000391812

NM_001277115.2(DNAH11):c.1170G>A (p.Glu390=)

SNV
Germline

Chr7:21564373

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178917

rs_776924184

3 SubmittersRCV000355707

NM_001277115.2(DNAH11):c.1978T>C (p.Leu660=)

SNV
Germline

Chr7:21589212

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179191

rs_771896570

2 SubmittersRCV000333179

NM_001277115.2(DNAH11):c.2050A>T (p.Ser684Cys)

SNV
Germline

Chr7:21589284

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179203

rs_367670668

3 SubmittersRCV000348500

NM_001277115.2(DNAH11):c.4012-8G>A

SNV
Germline

Chr7:21616201

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179865

rs_374349753

2 SubmittersRCV000314014

NM_001277115.2(DNAH11):c.4306C>T (p.Arg1436Trp)

SNV
Germline

Chr7:21619151

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4179993

rs_183489539

3 SubmittersRCV000312768 RCV002225606

NM_001277115.2(DNAH11):c.6152C>T (p.Thr2051Met)

SNV
Germline

Chr7:21698185

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA4180699

rs_375341444

4 SubmittersRCV000337723 RCV000606454

NM_001277115.2(DNAH11):c.6621T>A (p.Ala2207=)

SNV
Germline

Chr7:21707773

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180913

rs_574427839

2 SubmittersRCV000308755

NM_001277115.2(DNAH11):c.6717A>G (p.Ser2239=)

SNV
Germline

Chr7:21710586

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180962

rs_373930042

2 SubmittersRCV000277598

NM_001277115.2(DNAH11):c.7800T>C (p.Asp2600=)

SNV
Germline

Chr7:21738855

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181350

rs_774129338

2 SubmittersRCV000366860

NM_001277115.2(DNAH11):c.8145C>T (p.Asn2715=)

SNV
Germline

Chr7:21742157

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181468

rs_201592689

3 SubmittersRCV000356555

NM_001277115.2(DNAH11):c.8511-15G>A

SNV
Germline

Chr7:21748565

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181630

rs_111471486

2 SubmittersRCV000268304

NM_001277115.2(DNAH11):c.9966A>G (p.Gln3322=)

SNV
Germline

Chr7:21789282

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182184

rs_201050208

3 SubmittersRCV000401279

NM_001277115.2(DNAH11):c.10569-15C>T

SNV
Germline

Chr7:21818202

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4182406

rs_371205337

3 SubmittersRCV000360141 RCV004696017

NM_001277115.2(DNAH11):c.12174C>T (p.Ala4058=)

SNV
Germline

Chr7:21873480

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4182979

rs_185794149

5 SubmittersRCV000370062 RCV001565307

NM_001277115.2(DNAH11):c.12601C>T (p.Pro4201Ser)

SNV
Germline

Chr7:21892518

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4183130

rs_200166341

3 SubmittersRCV000383936 RCV001557906

NM_001277115.2(DNAH11):c.13398C>T (p.Pro4466=)

SNV
Germline

Chr7:21901101

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4183480

rs_72658836

4 SubmittersRCV000271471 RCV003437128

NM_152732.5(RSPH9):c.512G>A (p.Arg171Gln)

SNV
Germline

Chr6:43655680

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 12
RSPH9-related disorder

Criteria Provided
Conflicting Classifications

CA3828314

rs_201032669

4 SubmittersRCV000360854 RCV001095288 RCV003932472

NM_152732.5(RSPH9):c.819C>T (p.Pro273=)

SNV
Germline

Chr6:43670937

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 12

Criteria Provided
Conflicting Classifications

CA3828430

rs_79412180

3 SubmittersRCV000265038 RCV001095134

NM_012144.4(DNAI1):c.389-15C>T

SNV
Germline

Chr9:34489997

Conflicting classifications of pathogenicity

Kartagener syndrome
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10627265

rs_886063881

2 SubmittersRCV000314091 RCV003766108

NM_012144.4(DNAI1):c.1195G>A (p.Val399Met)

SNV
Germline

Chr9:34506758

Conflicting classifications of pathogenicity

Kartagener syndrome
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA5034317

rs_150261456

5 SubmittersRCV000266377 RCV001244888

NM_012144.4(DNAI1):c.1489+8C>A

SNV
Germline

Chr9:34512432

Conflicting classifications of pathogenicity

Kartagener syndrome
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA5034414

rs_547508610

2 SubmittersRCV000291502 RCV001484320

NM_001277115.2(DNAH11):c.180C>T (p.Arg60=)

SNV
Germline

Chr7:21543425

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4178627

rs_781089233

3 SubmittersRCV000367750 RCV000869031

NM_001277115.2(DNAH11):c.569A>T (p.Tyr190Phe)

SNV
Germline

Chr7:21558875

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4178715

rs_201793112

4 SubmittersRCV000354120 RCV003437124

NM_001277115.2(DNAH11):c.982+12G>A

SNV
Germline

Chr7:21561182

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178836

rs_546259810

2 SubmittersRCV000351221

NM_001277115.2(DNAH11):c.1535T>C (p.Met512Thr)

SNV
Germline

Chr7:21571915

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179010

rs_72655984

2 SubmittersRCV000321749

NM_001277115.2(DNAH11):c.2038G>A (p.Asp680Asn)

SNV
Germline

Chr7:21589272

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4179201

rs_201121146

7 SubmittersRCV000293480 RCV001335804 RCV000731493

NM_001277115.2(DNAH11):c.2419G>C (p.Asp807His)

SNV
Germline

Chr7:21591329

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179333

rs_369849556

3 SubmittersRCV000402697

NM_001277115.2(DNAH11):c.2499C>T (p.Asn833=)

SNV
Germline

Chr7:21591409

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179356

rs_201231307

2 SubmittersRCV000366197

NM_001277115.2(DNAH11):c.2504A>G (p.Lys835Arg)

SNV
Germline

Chr7:21591414

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179359

rs_745305844

3 SubmittersRCV000272070

NM_001277115.2(DNAH11):c.2547A>G (p.Leu849=)

SNV
Germline

Chr7:21591457

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179368

rs_535761458

3 SubmittersRCV000308442

NM_001277115.2(DNAH11):c.3470T>G (p.Leu1157Arg)

SNV
Germline

Chr7:21601440

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4179649

rs_117830543

8 SubmittersRCV000339106 RCV002464189 RCV001257433

NM_001277115.2(DNAH11):c.4713T>C (p.Asp1571=)

SNV
Germline

Chr7:21636083

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180131

rs_72657324

3 SubmittersRCV000376368

NM_001277115.2(DNAH11):c.4891G>A (p.Val1631Ile)

SNV
Germline

Chr7:21639012

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180212

rs_766901693

3 SubmittersRCV000287520

NM_001277115.2(DNAH11):c.4964A>G (p.Lys1655Arg)

SNV
Germline

Chr7:21655851

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180257

rs_371049362

2 SubmittersRCV000348417

NM_001277115.2(DNAH11):c.5241A>G (p.Gln1747=)

SNV
Germline

Chr7:21658944

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180339

rs_372802443

2 SubmittersRCV000304711

NM_001277115.2(DNAH11):c.6594G>A (p.Pro2198=)

SNV
Germline

Chr7:21707746

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180902

rs_200894470

3 SubmittersRCV000357603

NM_001277115.2(DNAH11):c.6664C>G (p.Arg2222Gly)

SNV
Germline

Chr7:21707816

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4180922

rs_773498002

4 SubmittersRCV000365804 RCV003615835

NM_001277115.2(DNAH11):c.6664C>T (p.Arg2222Ter)

SNV
Germline

Chr7:21707816

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA4180923

rs_773498002

3 SubmittersRCV000269539 RCV001782860

NM_001277115.2(DNAH11):c.8316+7G>A

SNV
Germline

Chr7:21744606

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA4181542

rs_369837420

3 SubmittersRCV000259524 RCV004544689

NM_001277115.2(DNAH11):c.11374A>G (p.Ile3792Val)

SNV
Germline

Chr7:21864535

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA4182733

rs_201700629

4 SubmittersRCV000289431 RCV004530453

NM_001277115.2(DNAH11):c.12336C>T (p.Asp4112=)

SNV
Germline

Chr7:21880842

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4183039

rs_779489580

2 SubmittersRCV000357497

NM_001277115.2(DNAH11):c.12407G>A (p.Arg4136His)

SNV
Germline

Chr7:21884310

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4183077

rs_372603233

3 SubmittersRCV000322538 RCV004725185

NM_001277115.2(DNAH11):c.12534A>G (p.Pro4178=)

SNV
Germline

Chr7:21892451

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4183120

rs_752183095

2 SubmittersRCV000381932

NM_001277115.2(DNAH11):c.13049+15C>T

SNV
Germline

Chr7:21895014

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4183255

rs_200860431

3 SubmittersRCV000313970 RCV003615836

NM_001277115.2(DNAH11):c.13050-12C>T

SNV
Germline

Chr7:21899324

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4183274

rs_187048874

2 SubmittersRCV000406684

NM_001277115.2(DNAH11):c.13176G>A (p.Thr4392=)

SNV
Germline

Chr7:21899993

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4183359

rs_79449551

3 SubmittersRCV000302293

NM_001277115.2(DNAH11):c.684A>G (p.Ser228=)

SNV
Germline

Chr7:21558990

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10628811

rs_886062171

2 SubmittersRCV000284172

NM_001277115.2(DNAH11):c.695C>T (p.Pro232Leu)

SNV
Germline

Chr7:21559605

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4178761

rs_200454446

5 SubmittersRCV000320459 RCV001573593

NM_001277115.2(DNAH11):c.794G>A (p.Arg265His)

SNV
Germline

Chr7:21559704

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA4178782

rs_192989152

4 SubmittersRCV000290136 RCV004544688

NM_001277115.2(DNAH11):c.1995C>T (p.His665=)

SNV
Germline

Chr7:21589229

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4179195

rs_752831166

3 SubmittersRCV000387850 RCV003430936

NM_001277115.2(DNAH11):c.2328G>A (p.Thr776=)

SNV
Germline

Chr7:21591238

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179310

rs_372387032

3 SubmittersRCV000305810

NM_001277115.2(DNAH11):c.3497A>C (p.His1166Pro)

SNV
Germline

Chr7:21601467

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179658

rs_575476197

2 SubmittersRCV000393983

NM_001277115.2(DNAH11):c.5318A>G (p.His1773Arg)

SNV
Germline

Chr7:21659021

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4180354

rs_200295318

4 SubmittersRCV000361690 RCV001764327

NM_001277115.2(DNAH11):c.5702A>C (p.Glu1901Ala)

SNV
Germline

Chr7:21687179

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180519

rs_750672801

2 SubmittersRCV000334258

NM_001277115.2(DNAH11):c.6017C>T (p.Pro2006Leu)

SNV
Germline

Chr7:21690857

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4180639

rs_117803903

7 SubmittersRCV000386425 RCV002466490

NM_001277115.2(DNAH11):c.7553T>C (p.Val2518Ala)

SNV
Germline

Chr7:21735752

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4181262

rs_141807661

5 SubmittersRCV000284216 RCV002264932 RCV002504178

NM_001277115.2(DNAH11):c.8973G>A (p.Thr2991=)

SNV
Germline

Chr7:21765460

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4181809

rs_200978576

4 SubmittersRCV000311828 RCV003437127

NM_001277115.2(DNAH11):c.9103-15T>C

SNV
Germline

Chr7:21773751

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181881

rs_551974653

2 SubmittersRCV000357525

NM_001277115.2(DNAH11):c.9292C>T (p.Arg3098Cys)

SNV
Germline

Chr7:21773955

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181913

rs_769695221

3 SubmittersRCV000265185

NM_001277115.2(DNAH11):c.9869C>G (p.Ser3290Cys)

SNV
Germline

Chr7:21787528

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182138

rs_201494403

3 SubmittersRCV000388352

NM_001277115.2(DNAH11):c.10121A>G (p.Lys3374Arg)

SNV
Germline

Chr7:21801231

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182236

rs_763155183

3 SubmittersRCV000281061

NM_001277115.2(DNAH11):c.11081A>T (p.Asn3694Ile)

SNV
Germline

Chr7:21854334

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4182613

rs_528354205

5 SubmittersRCV000331271 RCV002480244 RCV005243211

NM_001277115.2(DNAH11):c.11249T>G (p.Val3750Gly)

SNV
Germline

Chr7:21861899

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4182679

rs_199864090

7 SubmittersRCV000319457 RCV000764704 RCV004586693 RCV004696018

NM_001277115.2(DNAH11):c.12008A>T (p.Lys4003Met)

SNV
Germline

Chr7:21873314

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182948

rs_751059559

3 SubmittersRCV000315398

NM_001277115.2(DNAH11):c.13035T>C (p.Tyr4345=)

SNV
Germline

Chr7:21894985

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10628862

rs_545264816

3 SubmittersRCV000398514 RCV004696019

NM_001277115.2(DNAH11):c.13262C>T (p.Pro4421Leu)

SNV
Germline

Chr7:21900079

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4183385

rs_780579730

2 SubmittersRCV000270231

NM_001277115.2(DNAH11):c.13399G>A (p.Val4467Met)

SNV
Germline

Chr7:21901102

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA4183481

rs_200609513

4 SubmittersRCV000331216 RCV004530454

NM_012144.4(DNAI1):c.1999A>G (p.Lys667Glu)

SNV
Germline

Chr9:34517465

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA5034595

rs_560719255

3 SubmittersRCV000401036

NM_012472.6(DNAAF11):c.974+14C>A

SNV
Germline

Chr8:132615024

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 19

Criteria Provided
Conflicting Classifications

CA4881238

rs_780037666

2 SubmittersRCV000353374

NM_012144.4(DNAI1):c.169T>C (p.Leu57=)

SNV
Germline

Chr9:34485229

Conflicting classifications of pathogenicity

Kartagener syndrome
Primary ciliary dyskinesia
DNAI1-related disorder

Criteria Provided
Conflicting Classifications

CA5033941

rs_779175158

3 SubmittersRCV000283437 RCV002058799 RCV003932521

NM_012144.4(DNAI1):c.638C>T (p.Thr213Met)

SNV
Germline

Chr9:34491511

Conflicting classifications of pathogenicity

Kartagener syndrome
Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA5034133

rs_201754555

4 SubmittersRCV000368210 RCV002275027 RCV002356503

NM_012144.4(DNAI1):c.1020-14A>T

SNV
Germline

Chr9:34501124

Conflicting classifications of pathogenicity

Kartagener syndrome
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA5034269

rs_777973486

2 SubmittersRCV000360963 RCV003650576

NM_012144.4(DNAI1):c.1719-11C>T

SNV
Germline

Chr9:34514629

Conflicting classifications of pathogenicity

Kartagener syndrome
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA5034523

rs_774758389

3 SubmittersRCV000672311 RCV002058800

NM_018139.3(DNAAF2):c.1315G>C (p.Asp439His)

SNV
Germline

Chr14:49633835

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 10
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA7172941

rs_371126037

3 SubmittersRCV000379966 RCV002379191

NM_178452.6(DNAAF1):c.181C>G (p.Gln61Glu)

SNV
Germline

Chr16:84149063

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 13

Criteria Provided
Conflicting Classifications

CA10638468

rs_886052366

2 SubmittersRCV004609359 RCV000383354

NM_178452.6(DNAAF1):c.1664A>T (p.Asp555Val)

SNV
Germline

Chr16:84174688

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
DNAAF1-related disorder
Primary ciliary dyskinesia 13

Criteria Provided
Conflicting Classifications

CA8202980

rs_145973397

6 SubmittersRCV000358696 RCV001770258 RCV003922356 RCV001094261

NM_018139.3(DNAAF2):c.734C>T (p.Ala245Val)

SNV
Germline

Chr14:49634416

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 10
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA7173040

rs_754858452

3 SubmittersRCV000346072 RCV001247006

NM_018139.3(DNAAF2):c.731C>A (p.Ala244Glu)

SNV
Germline

Chr14:49634419

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 10

Criteria Provided
Conflicting Classifications

CA7173042

rs_112700048

4 SubmittersRCV000391959 RCV001094140

NM_023036.6(DNAI2):c.468-4G>T

SNV
Germline

Chr17:74289590

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 9
DNAI2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8745383

rs_146462823

8 SubmittersRCV000358485 RCV001094488 RCV003912348 RCV003418021

NM_017950.4(CCDC40):c.966C>T (p.Ala322=)

SNV
Germline

Chr17:80050090

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 15

Criteria Provided
Conflicting Classifications

CA8813637

rs_369089505

2 SubmittersRCV000297078 RCV001094544

NM_017950.4(CCDC40):c.1440+15C>T

SNV
Germline

Chr17:80058995

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 15
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8813820

rs_779133902

2 SubmittersRCV000327324 RCV005090503

NM_017950.4(CCDC40):c.1459G>A (p.Ala487Thr)

SNV
Germline

Chr17:80065503

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 15

Criteria Provided
Conflicting Classifications

CA8813850

rs_185157579

2 SubmittersRCV000277959 RCV001094507

NM_017950.4(CCDC40):c.1468G>A (p.Val490Met)

SNV
Germline

Chr17:80065512

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 15

Criteria Provided
Conflicting Classifications

CA8813854

rs_200902099

3 SubmittersRCV000387606 RCV001094521

NM_017950.4(CCDC40):c.1806+15G>A

SNV
Germline

Chr17:80081804

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 15
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8814016

rs_767093580

2 SubmittersRCV000280290 RCV002056641

NM_017950.4(CCDC40):c.1897C>T (p.Arg633Trp)

SNV
Germline

Chr17:80081966

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 15
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8814047

rs_200551690

3 SubmittersRCV000340743 RCV001492204

NM_017950.4(CCDC40):c.2169C>T (p.Ile723=)

SNV
Germline

Chr17:80084922

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8814122

rs_200641382

2 SubmittersRCV000365221

NM_017950.4(CCDC40):c.2236-15G>A

SNV
Germline

Chr17:80085988

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 15
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8814151

rs_148674510

2 SubmittersRCV000306505 RCV002056642

NM_017950.4(CCDC40):c.2387C>G (p.Ala796Gly)

SNV
Germline

Chr17:80086154

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 15
CCDC40-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8814184

rs_139435501

5 SubmittersRCV000372636 RCV001094514 RCV003969926 RCV005625550

NM_017950.4(CCDC40):c.2832+4A>T

SNV
Germline

Chr17:80089888

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 15
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8814358

rs_756602466

3 SubmittersRCV000339509 RCV002436177 RCV004767231

NM_017950.4(CCDC40):c.3013G>A (p.Val1005Ile)

SNV
Germline

Chr17:80095443

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 15
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8814574

rs_775788498

3 SubmittersRCV000391607 RCV004021718

NM_001256715.2(DNAAF3):c.1589C>T (p.Pro530Leu)

SNV
Germline

Chr19:55159099

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 2
not specified
DNAAF3-related disorder

Criteria Provided
Conflicting Classifications

CA9667750

rs_200673226

5 SubmittersRCV000326937 RCV000765474 RCV005431620 RCV003969946

NM_001256715.2(DNAAF3):c.832G>A (p.Ala278Thr)

SNV
Germline

Chr19:55161145

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
DNAAF3-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9668037

rs_200775946

6 SubmittersRCV000392333 RCV003912383 RCV000595456

NM_018139.3(DNAAF2):c.2388C>T (p.His796=)

SNV
Germline

Chr14:49625668

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 10

Criteria Provided
Conflicting Classifications

CA7172708

rs_140997181

3 SubmittersRCV000407129 RCV001094231

NM_018139.3(DNAAF2):c.1687G>T (p.Ala563Ser)

SNV
Germline

Chr14:49633463

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 10
DNAAF2-related disorder

Criteria Provided
Conflicting Classifications

CA7172845

rs_138511448

4 SubmittersRCV000312770 RCV001094134 RCV003910174

NM_018139.3(DNAAF2):c.263G>A (p.Cys88Tyr)

SNV
Germline

Chr14:49634887

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 10

Criteria Provided
Conflicting Classifications

CA7173137

rs_549457480

3 SubmittersRCV000364322 RCV001094159

NM_178452.6(DNAAF1):c.1245C>G (p.Thr415=)

SNV
Germline

Chr16:84170073

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Primary ciliary dyskinesia 13

Criteria Provided
Conflicting Classifications

CA8202805

rs_147804813

4 SubmittersRCV000351290 RCV000591206 RCV001094297

NM_178452.6(DNAAF1):c.2070G>A (p.Pro690=)

SNV
Germline

Chr16:84177733

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 13
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8203155

rs_772036783

3 SubmittersRCV000373165 RCV002418172

NM_018139.3(DNAAF2):c.471C>T (p.His157=)

SNV
Germline

Chr14:49634679

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 10

Criteria Provided
Conflicting Classifications

CA10645412

rs_886050528

2 SubmittersRCV000303384 RCV001094145

NM_023036.6(DNAI2):c.828G>A (p.Thr276=)

SNV
Germline

Chr17:74299821

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 9

Criteria Provided
Conflicting Classifications

CA8745500

rs_149918986

4 SubmittersRCV000356335 RCV001094496

NM_017950.4(CCDC40):c.1221C>T (p.Ile407=)

SNV
Germline

Chr17:80058555

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 15
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8813740

rs_760734578

2 SubmittersRCV000357622 RCV002524447

NM_017950.4(CCDC40):c.1739A>G (p.Gln580Arg)

SNV
Germline

Chr17:80081722

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 15
CCDC40-related disorder

Criteria Provided
Conflicting Classifications

CA8814006

rs_200815406

4 SubmittersRCV000374794 RCV001094522 RCV003910246

NM_017950.4(CCDC40):c.3245G>A (p.Arg1082His)

SNV
Germline

Chr17:80099591

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 15

Criteria Provided
Conflicting Classifications

CA8814681

rs_773033304

3 SubmittersRCV000297156 RCV001094516

NM_178452.4(DNAAF1):c.-172G>A

SNV
Germline

Chr16:84145269

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10648149

rs_558403928

3 SubmittersRCV000372231 RCV003418008

NM_178452.6(DNAAF1):c.1083C>T (p.Gly361=)

SNV
Germline

Chr16:84169911

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8202762

rs_200487337

4 SubmittersRCV000271707 RCV001094294 RCV002275012

NM_178452.6(DNAAF1):c.1173G>A (p.Pro391=)

SNV
Germline

Chr16:84170001

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 13
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8202780

rs_370819090

2 SubmittersRCV000381310 RCV002061207

NM_178452.6(DNAAF1):c.1423C>T (p.Leu475=)

SNV
Germline

Chr16:84170251

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 13
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8202855

rs_368651695

3 SubmittersRCV000338642 RCV002061208

NM_001256715.2(DNAAF3):c.1414G>A (p.Gly472Arg)

SNV
Germline

Chr19:55159274

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA9667782

rs_201919395

2 SubmittersRCV000383877

NM_001256715.2(DNAAF3):c.1049-1G>A

SNV
Germline

Chr19:55160014

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA9667927

rs_199590885

2 SubmittersRCV000280281

NM_023036.6(DNAI2):c.134A>G (p.Asn45Ser)

SNV
Germline

Chr17:74281951

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8745255

rs_148073122

5 SubmittersRCV000347857 RCV001094536 RCV003226921

NM_023036.6(DNAI2):c.318C>T (p.Tyr106=)

SNV
Germline

Chr17:74285174

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 9
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8745314

rs_764812763

2 SubmittersRCV000389949 RCV001443496

NM_023036.6(DNAI2):c.610+12C>T

SNV
Germline

Chr17:74289748

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 9
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8745407

rs_374447879

2 SubmittersRCV000304866 RCV002523008

NM_023036.6(DNAI2):c.1533G>T (p.Glu511Asp)

SNV
Germline

Chr17:74312041

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 9
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8745825

rs_150710001

5 SubmittersRCV000311666 RCV001242829 RCV003229828

NM_023036.6(DNAI2):c.1248C>T (p.Ser416=)

SNV
Germline

Chr17:74309289

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 9

Criteria Provided
Conflicting Classifications

CA10650901

rs_886053378

2 SubmittersRCV000343228 RCV001094538

NM_023036.6(DNAI2):c.1602T>C (p.Asp534=)

SNV
Germline

Chr17:74312110

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 9

Criteria Provided
Conflicting Classifications

CA8745843

rs_376541043

2 SubmittersRCV001400509 RCV000362489

NM_017950.4(CCDC40):c.2293G>A (p.Glu765Lys)

SNV
Germline

Chr17:80086060

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 15
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8814165

rs_199850214

3 SubmittersRCV000330944 RCV001476319

NM_001369.3(DNAH5):c.5177T>C (p.Leu1726Pro)

SNV
Germline

Chr5:13844931

Pathogenic

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3203769

rs_138890576

4 SubmittersRCV000408603 RCV000525295 RCV005434895

NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter)

SNV
Germline

Chr5:13841112

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
DNAH5-related disorder
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3203650

rs_761622153

10 SubmittersRCV000413667 RCV000539827 RCV004742412 RCV001283848

NM_001277115.2(DNAH11):c.8335C>A (p.Leu2779Met)

SNV
Germline

Chr7:21744888

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181574

rs_760409547

3 SubmittersRCV000440563 RCV000467981

NM_016616.5(NME8):c.271-11T>A

SNV
Germline

Chr7:37862017

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia 6

Criteria Provided
Conflicting Classifications

CA4222135

rs_760643364

2 SubmittersRCV000422636 RCV002524836

NM_001369.3(DNAH5):c.11583C>A (p.Ser3861Arg)

SNV
Germline

Chr5:13735309

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201900

rs_576096758

8 SubmittersRCV001155590 RCV000439859 RCV001835797

NM_001277115.2(DNAH11):c.11267G>A (p.Arg3756His)

SNV
Germline

Chr7:21861917

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182686

rs_554657293

3 SubmittersRCV000455418 RCV000467103

NM_001206927.2(DNAH8):c.11771C>T (p.Thr3924Met)

SNV
Germline

Chr6:38938181

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Spermatogenic failure 46
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3791176

rs_61757218

6 SubmittersRCV000455359 RCV000474097 RCV001265115 RCV003128799

NM_178452.6(DNAAF1):c.1205A>T (p.Glu402Val)

SNV
Germline

Chr16:84170033

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 13

Criteria Provided
Conflicting Classifications

CA8202792

rs_144034147

8 SubmittersRCV000454591 RCV000472616 RCV000727276 RCV001333097

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 SubmittersRCV000477112 RCV003322774 RCV004525933

NM_015896.4(ZMYND10):c.229G>A (p.Ala77Thr)

SNV
Germline

Chr3:50343823

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 22
ZMYND10-related disorder

Criteria Provided
Conflicting Classifications

CA2417271

rs_146847253

5 SubmittersRCV000473916 RCV000765749 RCV003970288

NM_015896.4(ZMYND10):c.85T>C (p.Ser29Pro)

SNV
Germline

Chr3:50345495

Pathogenic

Primary ciliary dyskinesia
ZMYND10-related disorder

Criteria Provided
Single Submitter

CA2417323

rs_587621539

2 SubmittersRCV000474323 RCV004754439

NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter)

SNV
Germline

Chr5:13701289

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided
Respiratory ciliopathies including non-CF bronchiectasis

Criteria Provided
Multiple Submitters
No Conflicts

CA3201351

rs_200901816

9 SubmittersRCV000471460 RCV000763130 RCV001662425 RCV004782385

NM_001369.3(DNAH5):c.13174T>C (p.Phe4392Leu)

SNV
Germline

Chr5:13708287

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3201428

rs_369714206

4 SubmittersRCV000467947 RCV004711112

NM_001369.3(DNAH5):c.12265C>T (p.Gln4089Ter)

SNV
Germline

Chr5:13721014

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16611765

rs_1060501456

2 SubmittersRCV000469460 RCV000760474

NM_001369.3(DNAH5):c.8940C>T (p.Ile2980=)

SNV
Germline

Chr5:13780840

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202670

rs_144001451

3 SubmittersRCV000461655 RCV001153167

NM_001369.3(DNAH5):c.8018A>G (p.Asn2673Ser)

SNV
Germline

Chr5:13793721

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3202916

rs_200591493

3 SubmittersRCV000456577 RCV001532029

NM_001369.3(DNAH5):c.7475C>T (p.Ala2492Val)

SNV
Germline

Chr5:13810193

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3203085

rs_529080443

3 SubmittersRCV000464819 RCV003615840

NM_001369.3(DNAH5):c.5983C>T (p.Arg1995Ter)

SNV
Germline

Chr5:13830675

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3203516

rs_773711154

3 SubmittersRCV000459469

NM_001369.3(DNAH5):c.4797-7A>G

SNV
Germline

Chr5:13859612

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3203873

rs_374917069

2 SubmittersRCV000474475 RCV001157899

NM_001369.3(DNAH5):c.11725C>T (p.Arg3909Ter)

SNV
Germline

Chr5:13735167

Pathogenic

Primary ciliary dyskinesia
Heterotaxy
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA16611798

rs_1060501464

3 SubmittersRCV000461296 RCV001731690 RCV000763131

NM_001369.3(DNAH5):c.975+6C>T

SNV
Germline

Chr5:13919170

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3205019

rs_151000177

4 SubmittersRCV000473809 RCV001154347 RCV005243246

NM_001369.3(DNAH5):c.257A>G (p.Asp86Gly)

SNV
Germline

Chr5:13928114

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3205240

rs_147441805

3 SubmittersRCV000468468

NM_001369.3(DNAH5):c.7943C>T (p.Ala2648Val)

SNV
Germline

Chr5:13794003

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202947

rs_201939338

4 SubmittersRCV000464127 RCV001153276

NM_001369.3(DNAH5):c.7688T>G (p.Leu2563Arg)

SNV
Germline

Chr5:13809108

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3203024

rs_187551830

3 SubmittersRCV000473303 RCV001155875

NM_001369.3(DNAH5):c.6748G>A (p.Glu2250Lys)

SNV
Germline

Chr5:13820439

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3203289

rs_201285946

3 SubmittersRCV000468270 RCV004696213

NM_001369.3(DNAH5):c.6304C>T (p.Arg2102Cys)

SNV
Germline

Chr5:13829650

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA3203432

rs_767019228

3 SubmittersRCV000457921 RCV001268786 RCV005033975

NM_001369.3(DNAH5):c.506C>T (p.Ser169Leu)

SNV
Germline

Chr5:13922261

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3205163

rs_749078502

3 SubmittersRCV000477129

NM_001369.3(DNAH5):c.13331G>A (p.Trp4444Ter)

SNV
Germline

Chr5:13708130

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA16611863

rs_1060501467

1 SubmittersRCV000462143

NM_001369.3(DNAH5):c.11533C>T (p.Arg3845Cys)

SNV
Germline

Chr5:13735855

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201932

rs_565819640

3 SubmittersRCV000464708

NM_001369.3(DNAH5):c.10367C>T (p.Ala3456Val)

SNV
Germline

Chr5:13758898

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3202266

rs_149956015

6 SubmittersRCV000477490 RCV001153064 RCV004797813

NM_001369.3(DNAH5):c.8465G>A (p.Trp2822Ter)

SNV
Germline

Chr5:13788898

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA16611868

rs_1060501455

1 SubmittersRCV000457343

NM_001369.3(DNAH5):c.4053+1G>T

SNV
Germline

Chr5:13867773

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA16611874

rs_1060501466

1 SubmittersRCV000469666

NM_001369.3(DNAH5):c.3202G>C (p.Ala1068Pro)

SNV
Germline

Chr5:13882788

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3204351

rs_200249508

4 SubmittersRCV000460245 RCV001152845 RCV001755713

NM_001369.3(DNAH5):c.2533C>T (p.Gln845Ter)

SNV
Germline

Chr5:13891020

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA16611879

rs_1060501458

2 SubmittersRCV000469993 RCV005044668

NM_001369.3(DNAH5):c.962C>T (p.Ser321Leu)

SNV
Germline

Chr5:13919189

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3205026

rs_201077964

7 SubmittersRCV000463187 RCV000625551 RCV003884546

NM_001369.3(DNAH5):c.193-6T>G

SNV
Germline

Chr5:13928184

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA3205253

rs_762313659

3 SubmittersRCV000474434 RCV003970318

NM_001369.3(DNAH5):c.57G>T (p.Thr19=)

SNV
Germline

Chr5:13944382

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3205304

rs_142969794

3 SubmittersRCV000471523 RCV002244941

NM_001206927.2(DNAH8):c.13823C>T (p.Thr4608Met)

SNV
Germline

Chr6:39026654

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Spermatogenic failure 46

Criteria Provided
Conflicting Classifications

CA3791778

rs_142438011

3 SubmittersRCV000457038 RCV002496818

NM_021147.5(CCNO):c.638T>C (p.Leu213Pro)

SNV
Germline

Chr5:55231790

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3266707

rs_775051461

1 SubmittersRCV000470093

NM_021147.5(CCNO):c.134C>A (p.Pro45His)

SNV
Germline

Chr5:55233390

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 29
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3266854

rs_139606873

3 SubmittersRCV000473732 RCV000660536 RCV001311652

NM_001369.3(DNAH5):c.13437C>T (p.Cys4479=)

SNV
Germline

Chr5:13701338

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3201367

rs_376510352

2 SubmittersRCV000466536 RCV001154226

NM_001369.3(DNAH5):c.8821-1G>C

SNV
Germline

Chr5:13780960

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA16612001

rs_1060501454

1 SubmittersRCV000467095

NM_001369.3(DNAH5):c.8314C>T (p.Arg2772Ter)

SNV
Germline

Chr5:13792128

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3202844

rs_781469274

7 SubmittersRCV000473928 RCV001849377 RCV004822052

NM_001369.3(DNAH5):c.8137C>T (p.Arg2713Cys)

SNV
Germline

Chr5:13793602

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202891

rs_111912673

5 SubmittersRCV000475199 RCV001662438 RCV001157487

NM_001369.3(DNAH5):c.6544A>G (p.Met2182Val)

SNV
Germline

Chr5:13824234

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3203366

rs_778507942

3 SubmittersRCV000467231 RCV004771473

NM_001369.3(DNAH5):c.6529G>C (p.Glu2177Gln)

SNV
Germline

Chr5:13824249

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3203370

rs_116069486

4 SubmittersRCV000460304 RCV004711122

NM_001369.3(DNAH5):c.6409C>A (p.Leu2137Ile)

SNV
Germline

Chr5:13829545

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3203415

rs_181884470

4 SubmittersRCV000464982 RCV004711113

NM_001369.3(DNAH5):c.3064G>A (p.Val1022Ile)

SNV
Germline

Chr5:13883014

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA3204404

rs_375218798

3 SubmittersRCV000470933 RCV004526678

NM_001369.3(DNAH5):c.2571G>A (p.Met857Ile)

SNV
Germline

Chr5:13890982

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204554

rs_199667661

3 SubmittersRCV000462683

NM_001369.3(DNAH5):c.559G>T (p.Glu187Ter)

SNV
Germline

Chr5:13922208

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA16612017

rs_759059925

1 SubmittersRCV000465113

NM_001206927.2(DNAH8):c.5545A>T (p.Ile1849Leu)

SNV
Germline

Chr6:38852772

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3789409

rs_145036630

4 SubmittersRCV000468080 RCV003431017 RCV004022627

NM_001206927.2(DNAH8):c.7866G>A (p.Trp2622Ter)

SNV
Germline

Chr6:38882917

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3790040

rs_766256391

1 SubmittersRCV000461675

NM_001277115.2(DNAH11):c.19G>A (p.Ala7Thr)

SNV
Germline

Chr7:21543264

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178606

rs_755966311

2 SubmittersRCV000465342

NM_001277115.2(DNAH11):c.179G>C (p.Arg60Pro)

SNV
Germline

Chr7:21543424

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178626

rs_757349371

2 SubmittersRCV000476838

NM_001277115.2(DNAH11):c.4463C>T (p.Ser1488Phe)

SNV
Germline

Chr7:21620041

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA4180054

rs_200581574

4 SubmittersRCV000466429 RCV004591408 RCV004535489

NM_001277115.2(DNAH11):c.5155A>G (p.Thr1719Ala)

SNV
Germline

Chr7:21658858

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4180323

rs_369965539

4 SubmittersRCV000470107 RCV002470863

NM_001277115.2(DNAH11):c.5740G>T (p.Val1914Phe)

SNV
Germline

Chr7:21687217

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA4180530

rs_201671992

3 SubmittersRCV000457354 RCV004737535

NM_001277115.2(DNAH11):c.6143C>G (p.Thr2048Arg)

SNV
Germline

Chr7:21698176

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA4180697

rs_184241449

3 SubmittersRCV001442535 RCV004586726

NM_001277115.2(DNAH11):c.6923C>T (p.Pro2308Leu)

SNV
Germline

Chr7:21711800

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA16612073

rs_376475480

5 SubmittersRCV000469872 RCV001160315 RCV002056712 RCV004737536

NM_001277115.2(DNAH11):c.8563G>A (p.Gly2855Arg)

SNV
Germline

Chr7:21748632

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA16612081

rs_1060503056

1 SubmittersRCV000463577

NM_001277115.2(DNAH11):c.10789C>T (p.Gln3597Ter)

SNV
Germline

Chr7:21842641

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA16612083

rs_1060503063

1 SubmittersRCV000459493

NM_001277115.2(DNAH11):c.13213C>T (p.Arg4405Cys)

SNV
Germline

Chr7:21900030

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4183372

rs_371929703

3 SubmittersRCV000465688 RCV001161198

NM_021147.5(CCNO):c.775C>T (p.Gln259Ter)

SNV
Germline

Chr5:55231653

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA16612090

rs_1060503388

1 SubmittersRCV000464206

NM_001010892.3(RSPH4A):c.1068G>A (p.Trp356Ter)

SNV
Germline

Chr6:116627775

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA16612098

rs_371374918

1 SubmittersRCV000473134

NM_001277115.2(DNAH11):c.1133A>C (p.Tyr378Ser)

SNV
Germline

Chr7:21564336

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4178908

rs_375636554

3 SubmittersRCV000468824 RCV001160009 RCV002274035

NM_001277115.2(DNAH11):c.2993A>G (p.Asn998Ser)

SNV
Germline

Chr7:21600112

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179482

rs_368692202

2 SubmittersRCV000464679

NM_001206927.2(DNAH8):c.9574A>G (p.Met3192Val)

SNV
Germline

Chr6:38909578

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
DNAH8-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3790506

rs_140935840

3 SubmittersRCV000476023 RCV003915297 RCV005365338

NM_001277115.2(DNAH11):c.3870G>C (p.Glu1290Asp)

SNV
Germline

Chr7:21615131

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4179811

rs_200954442

3 SubmittersRCV000475932 RCV003105916

NM_001277115.2(DNAH11):c.4142C>T (p.Thr1381Met)

SNV
Germline

Chr7:21617665

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179917

rs_551195183

2 SubmittersRCV000457868

NM_001277115.2(DNAH11):c.6514G>C (p.Val2172Leu)

SNV
Germline

Chr7:21705505

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA16612170

rs_375008007

5 SubmittersRCV000477052 RCV004797816 RCV002470864

NM_001277115.2(DNAH11):c.7379A>G (p.Lys2460Arg)

SNV
Germline

Chr7:21725923

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181205

rs_770671851

2 SubmittersRCV000477293

NM_001277115.2(DNAH11):c.7472G>A (p.Arg2491His)

SNV
Germline

Chr7:21735671

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
DNAH11-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4181244

rs_369438218

4 SubmittersRCV000468903 RCV004529599 RCV001764434

NM_001277115.2(DNAH11):c.11165T>C (p.Leu3722Pro)

SNV
Germline

Chr7:21854418

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA16612187

rs_1060503064

2 SubmittersRCV000470004 RCV004782387

NM_001277115.2(DNAH11):c.991G>A (p.Glu331Lys)

SNV
Germline

Chr7:21564194

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4178872

rs_550602612

6 SubmittersRCV000461338 RCV001164926 RCV001565535

NM_001277115.2(DNAH11):c.4884C>G (p.Phe1628Leu)

SNV
Germline

Chr7:21639005

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180209

rs_762090852

2 SubmittersRCV000458384

NM_001277115.2(DNAH11):c.6527C>T (p.Ala2176Val)

SNV
Germline

Chr7:21705518

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
not specified

Criteria Provided
Conflicting Classifications

CA4180855

rs_770279400

4 SubmittersRCV000471454 RCV005033989 RCV004689745

NM_001277115.2(DNAH11):c.9176A>C (p.Tyr3059Ser)

SNV
Germline

Chr7:21773839

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181894

rs_781116833

2 SubmittersRCV000458967

NM_001277115.2(DNAH11):c.13243A>C (p.Lys4415Gln)

SNV
Germline

Chr7:21900060

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4183378

rs_372325290

3 SubmittersRCV000458237 RCV002475883

NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe)

SNV
Germline

Chr7:761781

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 18
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4110766

rs_144405450

7 SubmittersRCV000463290 RCV000764723 RCV003235226

NM_017802.4(DNAAF5):c.2345A>G (p.Tyr782Cys)

SNV
Germline

Chr7:780058

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4111169

rs_61755909

3 SubmittersRCV000788150 RCV001082767

NM_001277115.2(DNAH11):c.1700C>G (p.Ala567Gly)

SNV
Germline

Chr7:21582011

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4179063

rs_545970834

3 SubmittersRCV000463456 RCV003319359

NM_001277115.2(DNAH11):c.2412A>G (p.Thr804=)

SNV
Germline

Chr7:21591322

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA4179332

rs_564401238

3 SubmittersRCV000457474 RCV001163075 RCV004535488

NM_001277115.2(DNAH11):c.4734G>C (p.Met1578Ile)

SNV
Germline

Chr7:21637619

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4180152

rs_202009583

4 SubmittersRCV000468667 RCV002293442 RCV003144272

NM_001277115.2(DNAH11):c.5864T>A (p.Leu1955Gln)

SNV
Germline

Chr7:21687467

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180578

rs_370052217

2 SubmittersRCV000459805

NM_001277115.2(DNAH11):c.6352G>A (p.Gly2118Ser)

SNV
Germline

Chr7:21704512

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4180791

rs_72657342

5 SubmittersRCV000470695 RCV000998772 RCV003114587

NM_003114.5(SPAG1):c.319A>T (p.Lys107Ter)

SNV
Germline

Chr8:100177834

Pathogenic

Primary ciliary dyskinesia 28

Criteria Provided
Single Submitter

CA4827228

rs_752479330

1 SubmittersRCV000468151

NM_003114.5(SPAG1):c.1226C>G (p.Thr409Ser)

SNV
Germline

Chr8:100213219

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 28
Primary ciliary dyskinesia
SPAG1-related disorder

Criteria Provided
Conflicting Classifications

CA4827471

rs_544372581

4 SubmittersRCV000463219 RCV002365656 RCV003932713

NM_001277115.2(DNAH11):c.8673+1G>A

SNV
Germline

Chr7:21748743

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA16612339

rs_1060503041

1 SubmittersRCV000459116

NM_001277115.2(DNAH11):c.11232C>G (p.Ile3744Met)

SNV
Germline

Chr7:21861882

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4182675

rs_201120788

3 SubmittersRCV000469208 RCV001753904

NM_001277115.2(DNAH11):c.13075C>T (p.Arg4359Ter)

SNV
Germline

Chr7:21899361

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA4183285

rs_774903187

1 SubmittersRCV000472650

NM_016616.5(NME8):c.401C>T (p.Pro134Leu)

SNV
Germline

Chr7:37863409

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 6
not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4222179

rs_369201077

3 SubmittersRCV000458472 RCV000613297 RCV004022731

NM_017802.4(DNAAF5):c.697G>A (p.Ala233Thr)

SNV
Germline

Chr7:729764

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4110403

rs_149139347

3 SubmittersRCV000458109 RCV004696234

NM_017802.4(DNAAF5):c.1487G>A (p.Arg496His)

SNV
Germline

Chr7:761769

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 18
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4110763

rs_149610399

5 SubmittersRCV000471696 RCV000764722 RCV004696235

NM_017802.4(DNAAF5):c.2024C>T (p.Thr675Met)

SNV
Germline

Chr7:774140

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 18

Criteria Provided
Conflicting Classifications

CA4111042

rs_757110526

3 SubmittersRCV000472341 RCV003651837

NM_003114.5(SPAG1):c.140+1G>A

SNV
Germline

Chr8:100162421

Likely pathogenic

Primary ciliary dyskinesia 28

Criteria Provided
Single Submitter

CA16612448

rs_1060503104

1 SubmittersRCV000468769

NM_003114.5(SPAG1):c.713C>T (p.Ala238Val)

SNV
Germline

Chr8:100187131

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 28
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4827344

rs_755306741

2 SubmittersRCV000476762 RCV004022859

NM_003114.5(SPAG1):c.2265A>T (p.Lys755Asn)

SNV
Germline

Chr8:100239389

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 28
Primary ciliary dyskinesia
SPAG1-related disorder

Criteria Provided
Conflicting Classifications

CA4827704

rs_148883126

4 SubmittersRCV000469814 RCV001255300 RCV003932714

NM_012144.4(DNAI1):c.1204G>A (p.Gly402Ser)

SNV
Germline

Chr9:34506767

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Kartagener syndrome

Criteria Provided
Conflicting Classifications

CA5034319

rs_746647838

5 SubmittersRCV000466629 RCV004689748 RCV005044703

NM_018076.5(ODAD2):c.3086C>T (p.Ser1029Phe)

SNV
Germline

Chr10:27812561

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 23
Condition: not provided
Primary ciliary dyskinesia
ODAD2-related disorder

Criteria Provided
Conflicting Classifications

CA5452985

rs_138588942

5 SubmittersRCV000462681 RCV001824322 RCV002461235 RCV003925396

NM_018076.5(ODAD2):c.2935G>A (p.Val979Met)

SNV
Germline

Chr10:27860711

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 23
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA5453063

rs_150655393

3 SubmittersRCV000477219 RCV003168868

NM_018076.5(ODAD2):c.1709G>A (p.Arg570Gln)

SNV
Germline

Chr10:27944256

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 23
Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA5453449

rs_140569195

6 SubmittersRCV000471496 RCV001529868 RCV002461214

NM_018139.3(DNAAF2):c.1969C>T (p.Leu657Phe)

SNV
Germline

Chr14:49628050

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 10

Criteria Provided
Conflicting Classifications

CA7172784

rs_187863107

4 SubmittersRCV000468312 RCV000765166

NM_018139.3(DNAAF2):c.388G>T (p.Glu130Ter)

SNV
Germline

Chr14:49634762

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA7173119

rs_752795172

1 SubmittersRCV000456977

NM_031427.4(DNAL1):c.486G>A (p.Trp162Ter)

SNV
Germline

Chr14:73689469

Pathogenic

Primary ciliary dyskinesia 16

Criteria Provided
Single Submitter

CA7261501

rs_372572996

1 SubmittersRCV000468574

NM_178452.6(DNAAF1):c.1300G>A (p.Gly434Arg)

SNV
Germline

Chr16:84170128

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8202820

rs_117114021

5 SubmittersRCV000472670 RCV001120253 RCV004721387

NM_178452.6(DNAAF1):c.1506G>A (p.Pro502=)

SNV
Germline

Chr16:84170334

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 13
Condition: not provided
DNAAF1-related disorder

Criteria Provided
Conflicting Classifications

CA8202879

rs_373515859

5 SubmittersRCV000457026 RCV001120555 RCV004721386 RCV004754444

NM_178452.6(DNAAF1):c.190C>T (p.Gln64Ter)

SNV
Germline

Chr16:84149072

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA16615014

rs_1060502829

2 SubmittersRCV000468722

NM_023036.6(DNAI2):c.317A>T (p.Tyr106Phe)

SNV
Germline

Chr17:74285173

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 9

Criteria Provided
Conflicting Classifications

CA8745313

rs_761389658

5 SubmittersRCV000458143 RCV001127062

NM_023036.6(DNAI2):c.876G>A (p.Trp292Ter)

SNV
Germline

Chr17:74301057

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA16615677

rs_1060502202

1 SubmittersRCV000474701

NM_023036.6(DNAI2):c.197G>T (p.Arg66Leu)

SNV
Germline

Chr17:74285053

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 9
DNAI2-related disorder

Criteria Provided
Conflicting Classifications

CA8745291

rs_147470752

4 SubmittersRCV000477163 RCV001127060 RCV003932748

NM_023036.6(DNAI2):c.1142T>C (p.Leu381Pro)

SNV
Germline

Chr17:74305373

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA8745615

rs_373836524

3 SubmittersRCV000466031 RCV003235225

NM_023036.6(DNAI2):c.883C>T (p.Arg295Ter)

SNV
Germline

Chr17:74301064

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 9

Criteria Provided
Multiple Submitters
No Conflicts

CA8745538

rs_200708870

4 SubmittersRCV000471217 RCV003223639 RCV004698835

NM_017950.4(CCDC40):c.1276G>T (p.Glu426Ter)

SNV
Germline

Chr17:80058610

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 15

Criteria Provided
Multiple Submitters
No Conflicts

CA16615716

rs_775299709

3 SubmittersRCV000472562 RCV001782939

NM_017950.4(CCDC40):c.1860C>T (p.Gly620=)

SNV
Germline

Chr17:80081929

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 15

Criteria Provided
Conflicting Classifications

CA8814040

rs_571288423

2 SubmittersRCV000471671 RCV001127967

NM_017950.4(CCDC40):c.2712-1G>T

SNV
Germline

Chr17:80089763

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 15
Condition: not provided
CCDC40-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA8814325

rs_370706991

8 SubmittersRCV000465864 RCV000779234 RCV002223847 RCV003902644

NM_017950.4(CCDC40):c.1187A>T (p.Asn396Ile)

SNV
Germline

Chr17:80058521

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8813733

rs_200701665

5 SubmittersRCV000459225 RCV001122109 RCV003418174

NM_023036.6(DNAI2):c.1516C>T (p.Arg506Ter)

SNV
Germline

Chr17:74312024

Pathogenic

Primary ciliary dyskinesia
DNAI2-related disorder

Criteria Provided
Single Submitter

CA8745821

rs_141581673

2 SubmittersRCV000456361 RCV004754437

NM_017950.4(CCDC40):c.2450-1G>A

SNV
Germline

Chr17:80087606

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA8814217

rs_774081599

1 SubmittersRCV000471764

NM_017950.4(CCDC40):c.2798T>G (p.Ile933Ser)

SNV
Germline

Chr17:80089850

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8814346

rs_564504598

5 SubmittersRCV000463546 RCV001421091

NM_001256715.2(DNAAF3):c.1252G>A (p.Val418Met)

SNV
Germline

Chr19:55159436

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA9667816

rs_201231901

2 SubmittersRCV000466523

NM_001256715.2(DNAAF3):c.755A>G (p.Asn252Ser)

SNV
Germline

Chr19:55161327

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA9668082

rs_757536895

1 SubmittersRCV000462954

NM_001256715.2(DNAAF3):c.789+1G>C

SNV
Germline

Chr19:55161292

Likely pathogenic

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA9668068

rs_770143722

2 SubmittersRCV000464578 RCV002508215

NM_145045.5(ODAD3):c.254G>A (p.Arg85Gln)

SNV
Germline

Chr19:11431011

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 30
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9212475

rs_143192349

6 SubmittersRCV000472321 RCV003221998 RCV004022943

NC_000019.10:g.55166647A>G

SNV
Germline

Chr19:55166647

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9668334

rs_200365972

5 SubmittersRCV000463492 RCV003480649

NM_080860.4(RSPH1):c.907A>G (p.Arg303Gly)

SNV
Germline

Chr21:42472841

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 24
Inborn genetic diseases
RSPH1-related disorder

Criteria Provided
Conflicting Classifications

CA10043694

rs_150629342

5 SubmittersRCV000469271 RCV001333455 RCV002526411 RCV004755921

NM_001364171.2(ODAD1):c.988+5G>A

SNV
Germline

Chr19:48303645

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA16616309

rs_1060500990

1 SubmittersRCV000474496

NM_001256715.2(DNAAF3):c.228+5G>C

SNV
Germline

Chr19:55165853

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA9668206

rs_372166228

1 SubmittersRCV000472407

NM_001034853.2(RPGR):c.1366C>T (p.Gln456Ter)

SNV
Germline

ChrX:38297332

Pathogenic

Primary ciliary dyskinesia
Retinitis pigmentosa 3

Criteria Provided
Multiple Submitters
No Conflicts

CA16616540

rs_1060501181

2 SubmittersRCV000473079 RCV001591081

NM_003611.3(OFD1):c.2725C>T (p.Arg909Ter)

SNV
Germline

ChrX:13767252

Pathogenic

Orofaciodigital syndrome I
Joubert syndrome
OFD1-related disorder
Primary ciliary dyskinesia
Respiratory ciliopathies including non-CF bronchiectasis
Orofaciodigital syndrome I

Criteria Provided
Multiple Submitters
No Conflicts

CA16616638

rs_1060500123

5 SubmittersRCV000465580 RCV002279956 RCV003448908 RCV005252898 RCV003448310

NM_001034853.2(RPGR):c.1708A>G (p.Thr570Ala)

SNV
Germline

ChrX:38287906

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
X-linked cone-rod dystrophy 1
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
Macular degeneration, X-linked atrophic
Retinitis pigmentosa 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10385420

rs_768169831

4 SubmittersRCV000468234 RCV002496810 RCV003128244

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_001369.3(DNAH5):c.6427G>T (p.Glu2143Ter)

SNV
Germline

Chr5:13829527

Pathogenic

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA16618118

rs_1064795496

2 SubmittersRCV000482090 RCV001865463

NM_001277115.2(DNAH11):c.1426-2A>G

SNV
Germline

Chr7:21571804

Pathogenic/Likely pathogenic

Condition: not provided
Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA16618448

rs_1064794014

3 SubmittersRCV000481858 RCV005252908 RCV003766672

NM_001364171.2(ODAD1):c.740C>T (p.Ala247Val)

SNV
Germline

Chr19:48304066

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA9548970

rs_774954250

2 SubmittersRCV000479555 RCV004023154

NM_001034853.2(RPGR):c.2898G>A (p.Gly966=)

SNV
Germline

ChrX:38286101

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10385239

rs_1064797363

4 SubmittersRCV000488224 RCV002526006

NM_001369.3(DNAH5):c.8731A>G (p.Asn2911Asp)

SNV
Germline

Chr5:13786268

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202755

rs_142852982

4 SubmittersRCV000489353 RCV001086514

NM_001369.3(DNAH5):c.5647C>T (p.Arg1883Ter)

SNV
Germline

Chr5:13840968

Pathogenic

Condition: not provided
Primary ciliary dyskinesia
DNAH5-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA3203619

rs_575017579

4 SubmittersRCV000494045 RCV000629506 RCV004742451

NM_001277115.2(DNAH11):c.4000A>G (p.Ile1334Val)

SNV
Germline

Chr7:21615261

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179836

rs_117965307

3 SubmittersRCV000498937 RCV003535787

NM_003611.3(OFD1):c.1102C>G (p.Leu368Val)

SNV
Germline

ChrX:13753414

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351747

rs_192285113

3 SubmittersRCV000500732 RCV002056861 RCV004023391

NM_003611.3(OFD1):c.2758-4A>G

SNV
Germline

ChrX:13768050

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA645372669

rs_1555908820

2 SubmittersRCV000502971 RCV004023390

NM_001277115.2(DNAH11):c.2T>G (p.Met1Arg)

SNV
Germline

Chr7:21543247

Likely pathogenic

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA366930944

rs_1355068287

2 SubmittersRCV000513429 RCV003535805

NM_001277115.2(DNAH11):c.1459C>G (p.Leu487Val)

SNV
Germline

Chr7:21571839

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178992

rs_759291863

2 SubmittersRCV000512756 RCV001857855

NM_001277115.2(DNAH11):c.3476G>A (p.Arg1159Lys)

SNV
Germline

Chr7:21601446

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366946920

rs_1192624503

2 SubmittersRCV000513117 RCV003766896

NM_001277115.2(DNAH11):c.8279A>G (p.Gln2760Arg)

SNV
Germline

Chr7:21744562

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181531

rs_72657366

4 SubmittersRCV000514331 RCV001088593

NM_178452.6(DNAAF1):c.353-18G>A

SNV
Germline

Chr16:84154559

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8202470

rs_201504436

2 SubmittersRCV000514425 RCV002060208

NM_001270974.2(HYDIN):c.14857C>T (p.Arg4953Trp)

SNV
Germline

Chr16:70809809

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia 5

Criteria Provided
Conflicting Classifications

CA8148356

rs_79607350

3 SubmittersRCV000514429 RCV002466526

NM_001369.3(DNAH5):c.3320A>T (p.Tyr1107Phe)

SNV
Germline

Chr5:13876760

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA3204309

rs_367913308

3 SubmittersRCV000523333 RCV001087092 RCV003915469

NM_001277115.2(DNAH11):c.6566G>A (p.Arg2189Gln)

SNV
Germline

Chr7:21707718

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180894

rs_747789567

2 SubmittersRCV000521113 RCV002525150

NM_001034853.2(RPGR):c.617C>T (p.Thr206Ile)

SNV
Germline

ChrX:38317318

Likely pathogenic

Condition: not provided
Primary ciliary dyskinesia
RPGR-related retinopathy
Retinitis pigmentosa 3

Reviewed By Expert Panel

CA412744378

rs_1555967757

4 SubmittersRCV000520033 RCV005091207 RCV005415434 RCV005252942

NM_001277115.2(DNAH11):c.2966G>A (p.Arg989Gln)

SNV
Germline

Chr7:21600085

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
not specified

Criteria Provided
Conflicting Classifications

CA366944802

rs_1178187217

5 SubmittersRCV000690703 RCV000560698 RCV004782425

NM_145038.5(DRC1):c.1029-1G>T

SNV
Germline

Chr2:26444221

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA1562122

rs_745800344

1 SubmittersRCV000551561

NM_145038.5(DRC1):c.1581G>T (p.Arg527Ser)

SNV
Germline

Chr2:26450067

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1562311

rs_145400360

2 SubmittersRCV000532548 RCV001770403

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

5 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

2 SubmittersRCV000551213 RCV001150115

NM_001369.3(DNAH5):c.13448C>T (p.Thr4483Met)

SNV
Germline

Chr5:13701327

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3201364

rs_141828476

5 SubmittersRCV000550344 RCV001154225 RCV003431067

NM_001369.3(DNAH5):c.13175T>G (p.Phe4392Cys)

SNV
Germline

Chr5:13708286

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3201427

rs_145400611

7 SubmittersRCV000532414 RCV000660460 RCV004597816

NM_001369.3(DNAH5):c.5118C>G (p.Tyr1706Ter)

SNV
Germline

Chr5:13844990

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA359214532

rs_1554074565

2 SubmittersRCV000536501 RCV003317256

NM_001369.3(DNAH5):c.3943G>T (p.Glu1315Ter)

SNV
Germline

Chr5:13867884

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359229120

rs_753397685

1 SubmittersRCV000546605

NM_001369.3(DNAH5):c.12709G>T (p.Val4237Phe)

SNV
Germline

Chr5:13716687

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201539

rs_138045391

3 SubmittersRCV000532779

NM_001369.3(DNAH5):c.3656G>A (p.Arg1219His)

SNV
Germline

Chr5:13870945

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3204204

rs_73055857

4 SubmittersRCV000527499 RCV003338643 RCV003431069

NM_001369.3(DNAH5):c.12104C>T (p.Thr4035Met)

SNV
Germline

Chr5:13721175

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3201738

rs_200894344

4 SubmittersRCV000526097 RCV002476082

NM_001369.3(DNAH5):c.11211+1G>A

SNV
Germline

Chr5:13751077

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359188799

rs_1554033855

1 SubmittersRCV000559780

NM_001369.3(DNAH5):c.11168T>A (p.Leu3723Gln)

SNV
Germline

Chr5:13751121

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA359188897

rs_1554033862

3 SubmittersRCV000549379 RCV004586763

NM_001369.3(DNAH5):c.2944C>T (p.Arg982Cys)

SNV
Germline

Chr5:13885028

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204450

rs_143673459

3 SubmittersRCV000536018

NM_001369.3(DNAH5):c.2504T>A (p.Met835Lys)

SNV
Germline

Chr5:13891049

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
DNAH5-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA359199612

rs_1554092890

3 SubmittersRCV000559049 RCV003403249 RCV005239139

NM_001369.3(DNAH5):c.9720+5G>A

SNV
Germline

Chr5:13769496

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3202461

rs_763440781

5 SubmittersRCV000530414 RCV001542573 RCV005621965

NM_001369.3(DNAH5):c.9590G>A (p.Arg3197Gln)

SNV
Germline

Chr5:13770764

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202507

rs_573476401

2 SubmittersRCV000542714 RCV001157368

NM_001369.3(DNAH5):c.1611C>G (p.Tyr537Ter)

SNV
Germline

Chr5:13911419

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359211831

rs_367877988

1 SubmittersRCV000531107

NM_001369.3(DNAH5):c.1432C>T (p.Arg478Ter)

SNV
Germline

Chr5:13913847

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA3204856

rs_747900131

5 SubmittersRCV000538695 RCV002283489

NM_001369.3(DNAH5):c.1250C>G (p.Thr417Ser)

SNV
Germline

Chr5:13914590

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3204902

rs_149202369

5 SubmittersRCV000539440 RCV004711144

NM_001369.3(DNAH5):c.9230G>A (p.Arg3077Gln)

SNV
Germline

Chr5:13776582

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3202591

rs_113742238

4 SubmittersRCV000531192 RCV004691841

NM_001369.3(DNAH5):c.349G>A (p.Glu117Lys)

SNV
Germline

Chr5:13923369

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3205206

rs_116128702

3 SubmittersRCV000550569

NM_001369.3(DNAH5):c.3013A>T (p.Asn1005Tyr)

SNV
Germline

Chr5:13883065

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3204415

rs_770975422

4 SubmittersRCV000550903 RCV001197264

NM_001369.3(DNAH5):c.2710G>T (p.Glu904Ter)

SNV
Germline

Chr5:13885997

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359196177

rs_1554090927

1 SubmittersRCV000543311

NM_001369.3(DNAH5):c.342C>T (p.Phe114=)

SNV
Germline

Chr5:13923376

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3205210

rs_145920072

4 SubmittersRCV000535661 RCV001156830 RCV003431068

NM_001369.3(DNAH5):c.13426C>T (p.Arg4476Ter)

SNV
Germline

Chr5:13701349

Pathogenic

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3201370

rs_767716511

3 SubmittersRCV000535464 RCV002223858

NM_001369.3(DNAH5):c.8828G>A (p.Arg2943His)

SNV
Germline

Chr5:13780952

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3202698

rs_184758570

6 SubmittersRCV000528776 RCV001155771 RCV004691840

NM_001369.3(DNAH5):c.8498G>A (p.Arg2833His)

SNV
Germline

Chr5:13788865

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3202796

rs_753130398

4 SubmittersRCV000535963 RCV005208142 RCV005429250

NM_001369.3(DNAH5):c.6970A>G (p.Thr2324Ala)

SNV
Germline

Chr5:13817566

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA3203227

rs_143074036

8 SubmittersRCV000541637 RCV001152114 RCV005426093 RCV004742485

NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter)

SNV
Germline

Chr5:13820424

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Infertility disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3203285

rs_745918507

12 SubmittersRCV000549276 RCV000670288 RCV001327941 RCV002223859

NM_001369.3(DNAH5):c.6407C>T (p.Thr2136Met)

SNV
Germline

Chr5:13829547

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3203417

rs_140690090

3 SubmittersRCV000545638 RCV002481750

NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter)

SNV
Germline

Chr5:13830621

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA359202191

rs_1273352530

6 SubmittersRCV000547103 RCV000671066

NM_001369.3(DNAH5):c.5482C>T (p.Gln1828Ter)

SNV
Germline

Chr5:13841694

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359210648

rs_1354919632

2 SubmittersRCV000555592

NM_001369.3(DNAH5):c.5438A>G (p.Glu1813Gly)

SNV
Germline

Chr5:13841738

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA3203675

rs_199910966

4 SubmittersRCV000524973 RCV005239140

NM_001369.3(DNAH5):c.5146C>T (p.Arg1716Trp)

SNV
Germline

Chr5:13844962

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3203776

rs_368644722

2 SubmittersRCV000551412

NM_001369.3(DNAH5):c.4133T>C (p.Ile1378Thr)

SNV
Germline

Chr5:13865890

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204053

rs_536502106

3 SubmittersRCV000552355

NM_001369.3(DNAH5):c.3415G>C (p.Asp1139His)

SNV
Germline

Chr5:13871747

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA359233389

rs_1554085372

5 SubmittersRCV000524800 RCV004526697 RCV005034079

NM_001369.3(DNAH5):c.13633T>C (p.Trp4545Arg)

SNV
Germline

Chr5:13700730

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359191333

rs_1161303371

1 SubmittersRCV000535071

NM_001369.3(DNAH5):c.10858C>T (p.Arg3620Ter)

SNV
Germline

Chr5:13753247

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359190783

rs_1283070426

1 SubmittersRCV000534613

NM_001369.3(DNAH5):c.9230G>T (p.Arg3077Leu)

SNV
Germline

Chr5:13776582

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3202590

rs_113742238

6 SubmittersRCV000541370 RCV001151917 RCV002298642

NM_001369.3(DNAH5):c.8398G>A (p.Val2800Ile)

SNV
Germline

Chr5:13792044

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3202832

rs_770453841

4 SubmittersRCV000542977 RCV004791516

NM_001369.3(DNAH5):c.6551T>C (p.Val2184Ala)

SNV
Germline

Chr5:13824227

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3203363

rs_200805455

4 SubmittersRCV000534344 RCV001358439

NM_001369.3(DNAH5):c.5710-2A>G

SNV
Germline

Chr5:13839530

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3203585

rs_548521732

5 SubmittersRCV000532226 RCV000763132 RCV005429249

NM_001369.3(DNAH5):c.4972A>G (p.Ile1658Val)

SNV
Germline

Chr5:13850794

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3203821

rs_535557021

5 SubmittersRCV000548363 RCV003338644 RCV003437239

NM_001369.3(DNAH5):c.4796+1G>A

SNV
Germline

Chr5:13862547

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA113973020

rs_989235687

1 SubmittersRCV000537994

NM_001369.3(DNAH5):c.2224C>T (p.Arg742Ter)

SNV
Germline

Chr5:13900241

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3
Respiratory ciliopathies including non-CF bronchiectasis

Criteria Provided
Multiple Submitters
No Conflicts

CA3204641

rs_776686983

5 SubmittersRCV000559327 RCV000760890 RCV000763133 RCV004787839

NM_001369.3(DNAH5):c.349G>T (p.Glu117Ter)

SNV
Germline

Chr5:13923369

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA359223945

rs_116128702

2 SubmittersRCV000528988

NM_001206927.2(DNAH8):c.9349-1G>T

SNV
Germline

Chr6:38907955

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA364001581

rs_1554132747

1 SubmittersRCV000535093

NM_001206927.2(DNAH8):c.10685C>T (p.Thr3562Met)

SNV
Germline

Chr6:38923080

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
DNAH8-related disorder

Criteria Provided
Conflicting Classifications

CA3790809

rs_373914023

3 SubmittersRCV000529121 RCV004023700 RCV003960244

NM_001206927.2(DNAH8):c.2037A>G (p.Gln679=)

SNV
Germline

Chr6:38778462

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3788383

rs_761979645

2 SubmittersRCV000529688 RCV004791514

NM_001206927.2(DNAH8):c.2139+1G>A

SNV
Germline

Chr6:38780066

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3788416

rs_376576474

1 SubmittersRCV000545575

NM_152732.5(RSPH9):c.228-6T>A

SNV
Germline

Chr6:43650369

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA566814934

rs_775136764

1 SubmittersRCV000548387

NM_001010892.3(RSPH4A):c.1453C>T (p.Arg485Ter)

SNV
Germline

Chr6:116628160

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA145927295

rs_1034327724

3 SubmittersRCV000554729 RCV002470901 RCV004820042

NM_001010892.3(RSPH4A):c.1351C>T (p.Gln451Ter)

SNV
Germline

Chr6:116628058

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 11
Respiratory ciliopathies including non-CF bronchiectasis

Criteria Provided
Multiple Submitters
No Conflicts

CA3970931

rs_750528020

4 SubmittersRCV000539991 RCV002497041 RCV004782426

NM_031924.8(RSPH3):c.374G>A (p.Arg125His)

SNV
Germline

Chr6:158983780

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 32
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4075910

rs_556783606

2 SubmittersRCV002060362 RCV004659113

NM_001206927.2(DNAH8):c.13904T>C (p.Met4635Thr)

SNV
Germline

Chr6:39030172

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA3791814

rs_372017066

2 SubmittersRCV000542574 RCV004023703

NM_001206927.2(DNAH8):c.10773C>G (p.Phe3591Leu)

SNV
Germline

Chr6:38923168

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3790824

rs_147574550

2 SubmittersRCV001478058 RCV003325489

NM_001277115.2(DNAH11):c.4334G>A (p.Arg1445Gln)

SNV
Germline

Chr7:21619179

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179998

rs_751896015

2 SubmittersRCV000543304

NM_001277115.2(DNAH11):c.5669C>G (p.Ala1890Gly)

SNV
Germline

Chr7:21687146

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4180511

rs_772740368

3 SubmittersRCV000552410 RCV001163797

NM_001277115.2(DNAH11):c.7295G>A (p.Arg2432Gln)

SNV
Germline

Chr7:21725839

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181183

rs_769003090

2 SubmittersRCV000553275

NM_001277115.2(DNAH11):c.8870C>G (p.Ala2957Gly)

SNV
Germline

Chr7:21750294

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 7
not specified

Criteria Provided
Conflicting Classifications

CA4181765

rs_369875222

4 SubmittersRCV000536038 RCV000658448 RCV003989554 RCV004586762

NM_001277115.2(DNAH11):c.13321C>T (p.Gln4441Ter)

SNV
Germline

Chr7:21901024

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366956536

rs_1261703349

1 SubmittersRCV000552871

NM_017802.4(DNAAF5):c.1784-1G>T

SNV
Germline

Chr7:770470

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA4110929

rs_765025514

1 SubmittersRCV000538800

NM_001277115.2(DNAH11):c.546T>A (p.Cys182Ter)

SNV
Germline

Chr7:21558852

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366932352

rs_1554309352

1 SubmittersRCV000542438

NM_001277115.2(DNAH11):c.647C>T (p.Thr216Ile)

SNV
Germline

Chr7:21558953

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178730

rs_375238384

2 SubmittersRCV000557164

NM_001277115.2(DNAH11):c.2515C>G (p.Gln839Glu)

SNV
Germline

Chr7:21591425

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366942870

rs_1427132712

2 SubmittersRCV000526627

NM_001277115.2(DNAH11):c.4567C>T (p.Gln1523Ter)

SNV
Germline

Chr7:21635937

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366933261

rs_1286036654

1 SubmittersRCV000557975

NM_001277115.2(DNAH11):c.5296G>A (p.Glu1766Lys)

SNV
Germline

Chr7:21658999

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180351

rs_371235859

2 SubmittersRCV000534716

NM_001277115.2(DNAH11):c.5778+1G>A

SNV
Germline

Chr7:21687256

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4180538

rs_72657333

5 SubmittersRCV000540575 RCV001706661 RCV001528709

NM_001277115.2(DNAH11):c.6004C>T (p.Arg2002Ter)

SNV
Germline

Chr7:21690844

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA4180633

rs_373844629

3 SubmittersRCV000544125 RCV000763173

NM_001277115.2(DNAH11):c.6130C>T (p.Arg2044Ter)

SNV
Germline

Chr7:21698163

Pathogenic

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4180694

rs_767595964

4 SubmittersRCV000559628 RCV002461276

NM_001277115.2(DNAH11):c.6131G>A (p.Arg2044Gln)

SNV
Germline

Chr7:21698164

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180695

rs_372051486

2 SubmittersRCV000533413

NM_001277115.2(DNAH11):c.12934-1G>T

SNV
Germline

Chr7:21894883

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
DNAH11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA366954776

rs_1554293484

3 SubmittersRCV000539529 RCV002497042 RCV004737606

NM_001277115.2(DNAH11):c.13069C>T (p.Arg4357Ter)

SNV
Germline

Chr7:21899355

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA4183283

rs_775720394

5 SubmittersRCV000538299 RCV000987856

NM_001277115.2(DNAH11):c.1A>G (p.Met1Val)

SNV
Germline

Chr7:21543246

Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA366930940

rs_1162526607

3 SubmittersRCV000537312 RCV001783025

NM_001277115.2(DNAH11):c.1108C>A (p.Leu370Met)

SNV
Germline

Chr7:21564311

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Infertility disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4178901

rs_189175047

4 SubmittersRCV000530437 RCV001327952 RCV004691839

NM_001277115.2(DNAH11):c.1486A>T (p.Lys496Ter)

SNV
Germline

Chr7:21571866

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366935876

rs_769637393

1 SubmittersRCV000535200

NM_001277115.2(DNAH11):c.1593+1G>A

SNV
Germline

Chr7:21571974

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366936112

rs_1554312483

1 SubmittersRCV000545538

NM_001277115.2(DNAH11):c.3494A>G (p.Asp1165Gly)

SNV
Germline

Chr7:21601464

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA4179655

rs_370436662

3 SubmittersRCV000540000 RCV001449752

NM_001277115.2(DNAH11):c.5368G>T (p.Glu1790Ter)

SNV
Germline

Chr7:21681585

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366946721

rs_1164659091

1 SubmittersRCV000527450

NM_001277115.2(DNAH11):c.6265G>T (p.Glu2089Ter)

SNV
Germline

Chr7:21702794

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366936297

rs_1275718084

1 SubmittersRCV000558577

NM_001277115.2(DNAH11):c.7279C>T (p.Gln2427Ter)

SNV
Germline

Chr7:21725823

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA366945492

rs_202236144

2 SubmittersRCV000528063 RCV004594072

NM_001277115.2(DNAH11):c.8023A>T (p.Ile2675Phe)

SNV
Germline

Chr7:21742035

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4181446

rs_72657364

2 SubmittersRCV000529698 RCV003441910

NM_001277115.2(DNAH11):c.9884G>A (p.Gly3295Asp)

SNV
Germline

Chr7:21787543

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182141

rs_554507939

2 SubmittersRCV000543160

NM_001277115.2(DNAH11):c.10332+2T>C

SNV
Germline

Chr7:21808051

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA155116012

rs_972753865

1 SubmittersRCV000550822

NM_017802.4(DNAAF5):c.1258T>C (p.Cys420Arg)

SNV
Germline

Chr7:756782

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA4110676

rs_147811057

2 SubmittersRCV000555677

NM_017802.4(DNAAF5):c.1976C>T (p.Ala659Val)

SNV
Germline

Chr7:774092

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4111031

rs_137924231

2 SubmittersRCV000532406

NM_017802.4(DNAAF5):c.2346C>G (p.Tyr782Ter)

SNV
Germline

Chr7:780059

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA152356881

rs_950490534

1 SubmittersRCV000546359

NM_001277115.2(DNAH11):c.4224G>T (p.Arg1408Ser)

SNV
Germline

Chr7:21617747

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179939

rs_200216579

2 SubmittersRCV000532813

NM_001277115.2(DNAH11):c.6273+9A>G

SNV
Germline

Chr7:21702811

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4180749

rs_192777767

3 SubmittersRCV000536610 RCV001160229

NM_001277115.2(DNAH11):c.11804C>T (p.Pro3935Leu)

SNV
Germline

Chr7:21867972

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Male infertility
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4182872

rs_72658814

9 SubmittersRCV000559527 RCV001283744 RCV001335803 RCV001547987

NM_001277115.2(DNAH11):c.11924C>T (p.Ala3975Val)

SNV
Germline

Chr7:21868948

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
DNAH11-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4182919

rs_374560534

3 SubmittersRCV000543523 RCV004541639 RCV004777706

NM_001277115.2(DNAH11):c.12196-2A>G

SNV
Germline

Chr7:21880700

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366963833

rs_1554291973

1 SubmittersRCV000551406

NM_003114.5(SPAG1):c.1307C>T (p.Pro436Leu)

SNV
Germline

Chr8:100213300

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 28
Primary ciliary dyskinesia
SPAG1-related disorder

Criteria Provided
Conflicting Classifications

CA4827474

rs_761617724

3 SubmittersRCV000543358 RCV002384240 RCV003935517

NM_003114.5(SPAG1):c.311C>A (p.Ser104Ter)

SNV
Germline

Chr8:100177826

Pathogenic

Primary ciliary dyskinesia 28

Criteria Provided
Single Submitter

CA371800300

rs_1275662909

1 SubmittersRCV000538474

NM_003114.5(SPAG1):c.1156C>T (p.Gln386Ter)

SNV
Germline

Chr8:100213149

Pathogenic

Primary ciliary dyskinesia 28

Criteria Provided
Single Submitter

CA371808745

rs_1229952265

1 SubmittersRCV000541958

NM_012472.6(DNAAF11):c.610G>A (p.Ala204Thr)

SNV
Germline

Chr8:132632783

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 19
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4881345

rs_772453135

2 SubmittersRCV000528852 RCV005540109

NM_012472.6(DNAAF11):c.949A>G (p.Ile317Val)

SNV
Germline

Chr8:132615063

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 19
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4881242

rs_146067670

2 SubmittersRCV000553224 RCV003372752

NM_017802.4(DNAAF5):c.788G>A (p.Arg263Gln)

SNV
Germline

Chr7:740826

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 18
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4110463

rs_201059622

3 SubmittersRCV001330783 RCV002413430

NM_012144.4(DNAI1):c.389-1G>C

SNV
Germline

Chr9:34490011

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Kartagener syndrome
Condition: not provided
DNAI1-related disorder

Criteria Provided
Conflicting Classifications

CA5034046

rs_200488444

10 SubmittersRCV000552711 RCV000667327 RCV001551769 RCV004754461

NM_012144.4(DNAI1):c.1569+1G>T

SNV
Germline

Chr9:34513192

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373261907

rs_1465404366

1 SubmittersRCV000525621

NM_012144.4(DNAI1):c.1145G>A (p.Ser382Asn)

SNV
Germline

Chr9:34506708

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Kartagener syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5034303

rs_141690214

5 SubmittersRCV000559024 RCV000764832 RCV005411473

NM_018076.5(ODAD2):c.2218T>C (p.Trp740Arg)

SNV
Germline

Chr10:27936760

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 23
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA5453276

rs_148764188

2 SubmittersRCV000538381 RCV002461335

NM_018076.5(ODAD2):c.1277G>A (p.Ser426Asn)

SNV
Germline

Chr10:27961677

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 23
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5453591

rs_143513621

3 SubmittersRCV000544285 RCV002461332 RCV004691902

NM_018076.5(ODAD2):c.26C>T (p.Thr9Met)

SNV
Germline

Chr10:27995117

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 23
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA5453921

rs_181484327

2 SubmittersRCV000526837 RCV002461337

NM_018076.5(ODAD2):c.844G>A (p.Val282Ile)

SNV
Germline

Chr10:27981558

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 23
Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA5453695

rs_191594899

3 SubmittersRCV000530907 RCV004024289 RCV003330794

NM_018076.5(ODAD2):c.86C>T (p.Ala29Val)

SNV
Germline

Chr10:27995057

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 23
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA5453905

rs_200574441

2 SubmittersRCV000543806 RCV004822107

NM_018139.3(DNAAF2):c.804C>G (p.Tyr268Ter)

SNV
Germline

Chr14:49634346

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA389630282

rs_1555328022

1 SubmittersRCV000559884

NM_018139.3(DNAAF2):c.1597A>G (p.Thr533Ala)

SNV
Germline

Chr14:49633553

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA7172871

rs_547924178

2 SubmittersRCV000551204

NM_178452.6(DNAAF1):c.1645-2A>C

SNV
Germline

Chr16:84174667

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 13

Criteria Provided
Conflicting Classifications

CA8202974

rs_764066045

3 SubmittersRCV000554590 RCV005357546

NM_023036.6(DNAI2):c.610+1G>A

SNV
Germline

Chr17:74289737

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Respiratory ciliopathies including non-CF bronchiectasis
Primary ciliary dyskinesia 9

Criteria Provided
Multiple Submitters
No Conflicts

CA8745404

rs_758109864

5 SubmittersRCV000527031 RCV004584143 RCV005018900

NM_023036.6(DNAI2):c.1202T>C (p.Met401Thr)

SNV
Germline

Chr17:74305433

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8745633

rs_146769635

3 SubmittersRCV000557153

NM_017950.4(CCDC40):c.1275C>T (p.Ala425=)

SNV
Germline

Chr17:80058609

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 15

Criteria Provided
Conflicting Classifications

CA8813758

rs_145013523

3 SubmittersRCV000559181 RCV001122111

NM_023036.6(DNAI2):c.1414C>T (p.Gln472Ter)

SNV
Germline

Chr17:74310083

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 9

Criteria Provided
Multiple Submitters
No Conflicts

CA8745772

rs_756868374

2 SubmittersRCV000560492 RCV002490939

NM_017950.4(CCDC40):c.2671G>T (p.Glu891Ter)

SNV
Germline

Chr17:80088062

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA401349741

rs_773796940

1 SubmittersRCV000549409

NM_017950.4(CCDC40):c.2712-1G>A

SNV
Germline

Chr17:80089763

Pathogenic

Primary ciliary dyskinesia
CCDC40-related disorder

Criteria Provided
Single Submitter

CA401350743

rs_370706991

2 SubmittersRCV000528091 RCV004754462

NM_145045.5(ODAD3):c.367-1G>C

SNV
Germline

Chr19:11430777

Likely pathogenic

Primary ciliary dyskinesia 30

Criteria Provided
Single Submitter

CA404126971

rs_1186608353

1 SubmittersRCV000527261

NM_001364171.2(ODAD1):c.1423G>A (p.Asp475Asn)

SNV
Germline

Chr19:48298079

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 20

Criteria Provided
Conflicting Classifications

CA9548696

rs_199600077

3 SubmittersRCV000530107 RCV003651943

NM_080860.4(RSPH1):c.785T>C (p.Met262Thr)

SNV
Germline

Chr21:42475990

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10043746

rs_139390401

2 SubmittersRCV000550740 RCV002525273

NM_003611.3(OFD1):c.2025G>T (p.Leu675Phe)

SNV
Germline

ChrX:13760485

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351920

rs_149473481

2 SubmittersRCV000545002 RCV004023911

NM_001034853.2(RPGR):c.752G>A (p.Gly251Asp)

SNV
Germline

ChrX:38310641

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA412742559

rs_1555966699

2 SubmittersRCV000536819 RCV002464247

NM_001369.3(DNAH5):c.6000C>A (p.Tyr2000Ter)

SNV
Germline

Chr5:13830658

Pathogenic/Likely pathogenic

Kartagener syndrome
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA359202544

rs_773208371

3 SubmittersRCV000578182 RCV002466541 RCV003652053

NM_017950.4(CCDC40):c.1989+1G>A

SNV
Germline

Chr17:80082059

Pathogenic

Kartagener syndrome
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA8814067

rs_745993158

2 SubmittersRCV000578202 RCV002530363

NM_001034853.2(RPGR):c.2605G>T (p.Glu869Ter)

SNV
Germline

ChrX:38286394

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412730244

rs_1555961677

5 SubmittersRCV000584983 RCV001199544 RCV002530868

NM_031427.4(DNAL1):c.517C>T (p.Leu173=)

SNV
Germline

Chr14:73689500

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia 16
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7261507

rs_35284335

3 SubmittersRCV000591815 RCV002065144 RCV002341515

NM_001369.3(DNAH5):c.9898-6C>T

SNV
Germline

Chr5:13766185

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA658796502

rs_1554039568

2 SubmittersRCV000594365 RCV003767360

NM_018139.3(DNAAF2):c.2106C>T (p.Asn702=)

SNV
Germline

Chr14:49625950

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA486350802

rs_1555327430

2 SubmittersRCV000594649 RCV003647783

NM_001369.3(DNAH5):c.6752C>T (p.Thr2251Met)

SNV
Germline

Chr5:13820435

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3203288

rs_146392250

6 SubmittersRCV000597441 RCV001084272 RCV001153379

NM_001277115.2(DNAH11):c.2631C>A (p.Ile877=)

SNV
Germline

Chr7:21591541

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA155077461

rs_1003575600

2 SubmittersRCV000595324 RCV003767368

NM_001034853.2(RPGR):c.36T>G (p.Gly12=)

SNV
Germline

ChrX:38323517

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10385738

rs_769123303

3 SubmittersRCV000594237 RCV002532482

NM_001277115.2(DNAH11):c.10041T>A (p.Asn3347Lys)

SNV
Germline

Chr7:21801151

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182214

rs_772016314

3 SubmittersRCV000596799 RCV002532576

NM_001034853.2(RPGR):c.1145A>T (p.Asp382Val)

SNV
Germline

ChrX:38299056

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10385532

rs_757714144

2 SubmittersRCV000592660 RCV001521129

NM_152732.5(RSPH9):c.466C>T (p.Arg156Ter)

SNV
Germline

Chr6:43655634

Pathogenic

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA3828303

rs_376496894

3 SubmittersRCV000593569 RCV001854108

NM_001369.3(DNAH5):c.11570+8T>C

SNV
Germline

Chr5:13735810

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Primary ciliary dyskinesia 3
Condition: not provided
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA3201925

rs_369789559

5 SubmittersRCV000629643 RCV000606834 RCV001155591 RCV003437299 RCV003915747

NM_001369.3(DNAH5):c.10195G>A (p.Val3399Ile)

SNV
Germline

Chr5:13762808

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202312

rs_749397968

3 SubmittersRCV000613757 RCV000629269

NM_001369.3(DNAH5):c.3895G>T (p.Val1299Phe)

SNV
Germline

Chr5:13867932

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA3204138

rs_767853104

4 SubmittersRCV000612487 RCV001829709 RCV004742535

NM_001277115.2(DNAH11):c.68C>T (p.Ser23Leu)

SNV
Germline

Chr7:21543313

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA155057668

rs_745842220

2 SubmittersRCV000606297 RCV003767441

NM_001369.3(DNAH5):c.2577+5T>G

SNV
Germline

Chr5:13890971

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204552

rs_201596289

2 SubmittersRCV000609909 RCV002531196

NM_001369.3(DNAH5):c.8512A>C (p.Ser2838Arg)

SNV
Germline

Chr5:13788851

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202793

rs_763198301

4 SubmittersRCV000629297 RCV000765815

NM_001369.3(DNAH5):c.7915C>T (p.Arg2639Ter)

SNV
Germline

Chr5:13794031

Pathogenic

Inborn genetic diseases
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA3202956

rs_375053470

4 SubmittersRCV000622966 RCV000629487

NM_001369.3(DNAH5):c.3598+2T>C

SNV
Germline

Chr5:13871562

Pathogenic/Likely pathogenic

Inborn genetic diseases
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided
DNAH5-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA113982044

rs_981267400

8 SubmittersRCV000623850 RCV001234224 RCV002272304 RCV004721483 RCV004742538

NM_145045.5(ODAD3):c.1060C>T (p.Gln354Ter)

SNV
Germline

Chr19:11423933

Pathogenic

Inborn genetic diseases
Primary ciliary dyskinesia 30

Criteria Provided
Multiple Submitters
No Conflicts

CA404121616

rs_1555721837

2 SubmittersRCV000624668 RCV003767830

NM_145038.5(DRC1):c.1599+1G>A

SNV
Germline

Chr2:26450086

Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 21

Criteria Provided
Multiple Submitters
No Conflicts

CA1562315

rs_146412095

2 SubmittersRCV000629480 RCV002483770

NM_145038.5(DRC1):c.2075C>G (p.Thr692Ser)

SNV
Germline

Chr2:26455142

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 21
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1562511

rs_201260214

3 SubmittersRCV000629310 RCV003117438 RCV004975718

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
CCDC39-related disorder
Primary ciliary dyskinesia 14

Criteria Provided
Conflicting Classifications

CA2715667

rs_201601768

4 SubmittersRCV000629523 RCV003945579 RCV001145677

NM_001369.3(DNAH5):c.12586C>T (p.Gln4196Ter)

SNV
Germline

Chr5:13717434

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA359207619

rs_886059965

2 SubmittersRCV000629363 RCV005034204

NM_001369.3(DNAH5):c.7892C>T (p.Thr2631Met)

SNV
Germline

Chr5:13794054

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA3202959

rs_375200875

6 SubmittersRCV000629433 RCV002298714 RCV003918000

NM_001369.3(DNAH5):c.5932C>G (p.Pro1978Ala)

SNV
Germline

Chr5:13830726

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203523

rs_138222058

3 SubmittersRCV000629292

NM_001369.3(DNAH5):c.2481C>T (p.Arg827=)

SNV
Germline

Chr5:13891072

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3204570

rs_777353326

2 SubmittersRCV000629624 RCV001154957

NM_001369.3(DNAH5):c.252T>G (p.Tyr84Ter)

SNV
Germline

Chr5:13928119

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA3205241

rs_754982008

2 SubmittersRCV000629311

NM_001369.3(DNAH5):c.13689G>C (p.Leu4563Phe)

SNV
Germline

Chr5:13700674

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201282

rs_374221053

3 SubmittersRCV000629391

NM_001369.3(DNAH5):c.9461A>C (p.Asp3154Ala)

SNV
Germline

Chr5:13770893

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202542

rs_149187750

4 SubmittersRCV000629403 RCV001151914

NM_001369.3(DNAH5):c.8236G>T (p.Val2746Leu)

SNV
Germline

Chr5:13792206

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202856

rs_773643407

3 SubmittersRCV000629367 RCV001591405

NM_001369.3(DNAH5):c.4480C>T (p.Arg1494Trp)

SNV
Germline

Chr5:13864513

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3203970

rs_535366955

5 SubmittersRCV000629378 RCV001563797

NM_001369.3(DNAH5):c.13073G>A (p.Arg4358Gln)

SNV
Germline

Chr5:13714457

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3201457

rs_144949095

4 SubmittersRCV000629601 RCV001154342 RCV002263848

NM_001369.3(DNAH5):c.11653C>T (p.Arg3885Ter)

SNV
Germline

Chr5:13735239

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Respiratory ciliopathies including non-CF bronchiectasis

Criteria Provided
Multiple Submitters
No Conflicts

CA3201881

rs_756032160

5 SubmittersRCV000629266 RCV000778750 RCV005431820

NM_001369.3(DNAH5):c.11529G>A (p.Ser3843=)

SNV
Germline

Chr5:13735859

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA443260304

rs_1024441903

2 SubmittersRCV000629641 RCV001155592

NM_001369.3(DNAH5):c.10877C>T (p.Thr3626Met)

SNV
Germline

Chr5:13752285

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202106

rs_376067762

3 SubmittersRCV000629393 RCV001526762

NM_001369.3(DNAH5):c.8528T>C (p.Phe2843Ser)

SNV
Germline

Chr5:13788835

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA113956772

rs_77377082

2 SubmittersRCV000629431 RCV002499026

NM_001369.3(DNAH5):c.7741A>G (p.Lys2581Glu)

SNV
Germline

Chr5:13809055

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203018

rs_142302585

4 SubmittersRCV000629287

NM_001369.3(DNAH5):c.12614G>T (p.Gly4205Val)

SNV
Germline

Chr5:13717406

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA113919224

rs_79185772

1 SubmittersRCV000629313

NM_001369.3(DNAH5):c.10615C>T (p.Arg3539Cys)

SNV
Germline

Chr5:13753490

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA359192148

rs_1304504006

4 SubmittersRCV000629442 RCV004696964 RCV005044918

NM_001369.3(DNAH5):c.8404C>T (p.Gln2802Ter)

SNV
Germline

Chr5:13792038

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Condition: not provided
Respiratory ciliopathies including non-CF bronchiectasis

Criteria Provided
Multiple Submitters
No Conflicts

CA359218951

rs_1193586811

3 SubmittersRCV000629446 RCV000760376 RCV005253011

NM_021147.5(CCNO):c.563A>G (p.Lys188Arg)

SNV
Germline

Chr5:55232365

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359722594

rs_1554019966

1 SubmittersRCV000629400

NM_001010892.3(RSPH4A):c.11C>G (p.Ser4Ter)

SNV
Germline

Chr6:116616634

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA365388071

rs_1554247978

1 SubmittersRCV000629364

NM_001206927.2(DNAH8):c.9277A>G (p.Ile3093Val)

SNV
Germline

Chr6:38906336

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
DNAH8-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA3790442

rs_139533720

4 SubmittersRCV000629305 RCV001310912 RCV003917999 RCV004025358

NM_001010892.3(RSPH4A):c.690T>G (p.Tyr230Ter)

SNV
Germline

Chr6:116622771

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA365397323

rs_1554248617

1 SubmittersRCV000629302

NM_001010892.3(RSPH4A):c.430C>T (p.Gln144Ter)

SNV
Germline

Chr6:116617053

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA3970763

rs_756868889

2 SubmittersRCV000629320 RCV000778772

NM_001010892.3(RSPH4A):c.1690C>T (p.Gln564Ter)

SNV
Germline

Chr6:116629594

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA365408677

rs_1554249521

1 SubmittersRCV000629375

NM_001206927.2(DNAH8):c.10335G>A (p.Trp3445Ter)

SNV
Germline

Chr6:38917951

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA364008540

rs_1437893220

1 SubmittersRCV000629371

NM_001206927.2(DNAH8):c.12100C>T (p.Leu4034Phe)

SNV
Germline

Chr6:38945559

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
not specified
DNAH8-related disorder

Criteria Provided
Conflicting Classifications

CA3791260

rs_146505940

6 SubmittersRCV000629319 RCV001815422 RCV004025360 RCV004754510

NM_152732.5(RSPH9):c.117C>A (p.Tyr39Ter)

SNV
Germline

Chr6:43645215

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA364287230

rs_1233811324

2 SubmittersRCV000629323

NM_001277115.2(DNAH11):c.5143C>T (p.Arg1715Cys)

SNV
Germline

Chr7:21658846

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180319

rs_531475386

2 SubmittersRCV000629355

NM_001277115.2(DNAH11):c.6983C>T (p.Pro2328Leu)

SNV
Germline

Chr7:21711860

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4181052

rs_745645801

3 SubmittersRCV000629648 RCV001160316

NM_001277115.2(DNAH11):c.8456A>G (p.Asn2819Ser)

SNV
Germline

Chr7:21745009

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181593

rs_371215793

2 SubmittersRCV000629373

NM_001277115.2(DNAH11):c.13346G>A (p.Arg4449His)

SNV
Germline

Chr7:21901049

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4183461

rs_138945257

2 SubmittersRCV000629459

NM_001277115.2(DNAH11):c.806G>T (p.Gly269Val)

SNV
Germline

Chr7:21559716

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178783

rs_374505775

2 SubmittersRCV000629342

NM_001277115.2(DNAH11):c.8072A>G (p.Gln2691Arg)

SNV
Germline

Chr7:21742084

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA4181452

rs_183682756

6 SubmittersRCV000629274 RCV002492937 RCV003437333 RCV004544818

NM_001277115.2(DNAH11):c.8093T>C (p.Leu2698Ser)

SNV
Germline

Chr7:21742105

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4181457

rs_187533108

4 SubmittersRCV000629268 RCV001555784

NM_001277115.2(DNAH11):c.8098A>G (p.Thr2700Ala)

SNV
Germline

Chr7:21742110

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181459

rs_376421903

2 SubmittersRCV000629451

NM_001277115.2(DNAH11):c.9924+1G>A

SNV
Germline

Chr7:21787584

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366941965

rs_1554281038

1 SubmittersRCV000629491

NM_001277115.2(DNAH11):c.11882A>G (p.Asn3961Ser)

SNV
Germline

Chr7:21868906

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182908

rs_186794216

2 SubmittersRCV000629455

NM_001277115.2(DNAH11):c.13183C>T (p.Arg4395Ter)

SNV
Germline

Chr7:21900000

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA4183364

rs_757784023

1 SubmittersRCV000629322

NM_001277115.2(DNAH11):c.13429G>T (p.Glu4477Ter)

SNV
Germline

Chr7:21901132

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366957050

rs_551275210

1 SubmittersRCV000629359

NM_001277115.2(DNAH11):c.811C>T (p.His271Tyr)

SNV
Germline

Chr7:21559721

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178785

rs_751575627

2 SubmittersRCV000629470

NM_001277115.2(DNAH11):c.1147C>T (p.Arg383Trp)

SNV
Germline

Chr7:21564350

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178912

rs_200648006

2 SubmittersRCV000629345

NM_001277115.2(DNAH11):c.2772G>A (p.Met924Ile)

SNV
Germline

Chr7:21599891

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4179428

rs_766050153

3 SubmittersRCV000629272 RCV003329315 RCV005367462

NM_001277115.2(DNAH11):c.4466A>G (p.Asp1489Gly)

SNV
Germline

Chr7:21620044

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180056

rs_371659661

2 SubmittersRCV000629490

NM_001277115.2(DNAH11):c.5138C>T (p.Thr1713Met)

SNV
Germline

Chr7:21658841

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA4180315

rs_202034810

3 SubmittersRCV000629318 RCV004544819

NM_001277115.2(DNAH11):c.10091G>T (p.Arg3364Leu)

SNV
Germline

Chr7:21801201

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4182229

rs_369682703

3 SubmittersRCV000629472 RCV002499027

NM_001277115.2(DNAH11):c.10274C>A (p.Thr3425Lys)

SNV
Germline

Chr7:21807991

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4182303

rs_367800491

2 SubmittersRCV000629278 RCV002492938

NM_001277115.2(DNAH11):c.10631A>G (p.Glu3544Gly)

SNV
Germline

Chr7:21818279

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA155123172

rs_928335497

4 SubmittersRCV000629324 RCV000734391 RCV001542426

NM_001277115.2(DNAH11):c.11678C>T (p.Thr3893Met)

SNV
Germline

Chr7:21866651

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182826

rs_763843747

2 SubmittersRCV000629344

NM_012472.6(DNAAF11):c.633C>A (p.Tyr211Ter)

SNV
Germline

Chr8:132632760

Pathogenic

Primary ciliary dyskinesia 19

Criteria Provided
Single Submitter

CA372294975

rs_750603177

1 SubmittersRCV000650322

NM_012472.6(DNAAF11):c.2T>A (p.Met1Lys)

SNV
Germline

Chr8:132675492

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 19
Primary ciliary dyskinesia
DNAAF11-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4881538

rs_377278570

4 SubmittersRCV000650320 RCV002461967 RCV003403499 RCV003736869

NM_001277115.2(DNAH11):c.1848G>A (p.Gln616=)

SNV
Germline

Chr7:21588201

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4179111

rs_369146775

4 SubmittersRCV000629263 RCV001165048 RCV004691951

NM_001277115.2(DNAH11):c.2440G>A (p.Glu814Lys)

SNV
Germline

Chr7:21591350

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179340

rs_529566924

2 SubmittersRCV000629493

NM_001277115.2(DNAH11):c.10048A>T (p.Arg3350Ter)

SNV
Germline

Chr7:21801158

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366943689

rs_1554282583

1 SubmittersRCV000629360

NM_001277115.2(DNAH11):c.12329C>A (p.Pro4110His)

SNV
Germline

Chr7:21880835

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4183037

rs_753983449

2 SubmittersRCV000629485

NM_017802.4(DNAAF5):c.781G>A (p.Val261Ile)

SNV
Germline

Chr7:740819

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 18
DNAAF5-related disorder

Criteria Provided
Conflicting Classifications

CA4110458

rs_138915052

4 SubmittersRCV000629394 RCV000765977 RCV003905681

NM_012472.6(DNAAF11):c.574C>G (p.Gln192Glu)

SNV
Germline

Chr8:132632819

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 19
Condition: not provided
Primary ciliary dyskinesia
DNAAF11-related disorder

Criteria Provided
Conflicting Classifications

CA4881350

rs_141945265

7 SubmittersRCV000650330 RCV001565975 RCV002461970 RCV003937962

NM_012472.6(DNAAF11):c.299T>C (p.Ile100Thr)

SNV
Germline

Chr8:132638065

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 19
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4881409

rs_139008774

4 SubmittersRCV000650327 RCV001815364

NM_003114.5(SPAG1):c.413T>C (p.Leu138Pro)

SNV
Germline

Chr8:100177928

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 28
Primary ciliary dyskinesia
SPAG1-related disorder

Criteria Provided
Conflicting Classifications

CA4827241

rs_141605537

4 SubmittersRCV000651835 RCV002331259 RCV003892485

NM_012144.4(DNAI1):c.625C>T (p.Arg209Ter)

SNV
Germline

Chr9:34491498

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA5034127

rs_769224534

1 SubmittersRCV000629374

NM_012144.4(DNAI1):c.1019+5G>C

SNV
Germline

Chr9:34500844

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
DNAI1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA5034249

rs_747121305

2 SubmittersRCV000629474 RCV003424200

NM_018076.5(ODAD2):c.1143-1G>T

SNV
Germline

Chr10:27969019

Likely pathogenic

Primary ciliary dyskinesia 23

Criteria Provided
Single Submitter

CA376393848

rs_1554822213

1 SubmittersRCV000651794

NM_012144.4(DNAI1):c.1003G>T (p.Val335Phe)

SNV
Germline

Chr9:34500823

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Kartagener syndrome
not specified

Criteria Provided
Conflicting Classifications

CA5034245

rs_11793196

3 SubmittersRCV000629513 RCV000995536 RCV004702212

NM_012144.4(DNAI1):c.1523T>C (p.Ile508Thr)

SNV
Germline

Chr9:34513145

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Kartagener syndrome

Criteria Provided
Conflicting Classifications

CA5034436

rs_148238282

2 SubmittersRCV000629613 RCV001169803

NM_018139.3(DNAAF2):c.484C>T (p.Gln162Ter)

SNV
Germline

Chr14:49634666

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA389631757

rs_1555328087

1 SubmittersRCV000629423

NM_130810.4(DNAAF4):c.56T>A (p.Leu19Gln)

SNV
Germline

Chr15:55498274

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia 25

Criteria Provided
Conflicting Classifications

CA392553864

rs_1200826286

2 SubmittersRCV001377564 RCV005367464

NM_178452.6(DNAAF1):c.115T>C (p.Cys39Arg)

SNV
Germline

Chr16:84145555

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8202349

rs_373512514

2 SubmittersRCV000629505

NM_178452.6(DNAAF1):c.2079C>T (p.Ser693=)

SNV
Germline

Chr16:84177742

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 13
DNAAF1-related disorder

Criteria Provided
Conflicting Classifications

CA8203157

rs_145469545

4 SubmittersRCV000629573 RCV001118707 RCV003935744

NM_023036.6(DNAI2):c.701G>A (p.Gly234Asp)

SNV
Germline

Chr17:74291110

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA293850094

rs_897911822

2 SubmittersRCV000629457

NM_017950.4(CCDC40):c.1248C>T (p.Arg416=)

SNV
Germline

Chr17:80058582

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 15

Criteria Provided
Conflicting Classifications

CA8813750

rs_375199947

3 SubmittersRCV000629650 RCV001122110

NM_017950.4(CCDC40):c.660C>T (p.Phe220=)

SNV
Germline

Chr17:80047386

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8813515

rs_200678214

2 SubmittersRCV000629616

NM_017950.4(CCDC40):c.1479G>T (p.Arg493Ser)

SNV
Germline

Chr17:80065523

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 15
CCDC40-related disorder

Criteria Provided
Conflicting Classifications

CA8813857

rs_201739201

4 SubmittersRCV000629497 RCV001125859 RCV003420089

NM_023036.6(DNAI2):c.598A>C (p.Ile200Leu)

SNV
Germline

Chr17:74289724

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 9

Criteria Provided
Conflicting Classifications

CA8745401

rs_144786630

4 SubmittersRCV000629593 RCV001124100

NM_023036.6(DNAI2):c.718C>T (p.Gln240Ter)

SNV
Germline

Chr17:74291127

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 9

Criteria Provided
Multiple Submitters
No Conflicts

CA8745453

rs_780116486

2 SubmittersRCV000629414 RCV002477376

NM_023036.6(DNAI2):c.1629G>A (p.Ala543=)

SNV
Germline

Chr17:74312137

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 9

Criteria Provided
Conflicting Classifications

CA8745850

rs_201925425

3 SubmittersRCV000629649 RCV001124193

NM_001364171.2(ODAD1):c.1198C>T (p.Arg400Cys)

SNV
Germline

Chr19:48302736

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 20

Criteria Provided
Conflicting Classifications

CA9548784

rs_149354918

3 SubmittersRCV000629483 RCV000765456

NM_001364171.2(ODAD1):c.697C>T (p.Arg233Trp)

SNV
Germline

Chr19:48304109

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA9548986

rs_200168343

4 SubmittersRCV000788406 RCV001088327

NM_001277115.2(DNAH11):c.6376G>A (p.Val2126Met)

SNV
Germline

Chr7:21704536

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180798

rs_772530809

2 SubmittersRCV000659070 RCV002536335

NM_001369.3(DNAH5):c.12114A>T (p.Glu4038Asp)

SNV
Germline

Chr5:13721165

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201732

rs_749640233

3 SubmittersRCV000660382 RCV001245743

NM_001277115.2(DNAH11):c.12569G>A (p.Gly4190Asp)

SNV
Germline

Chr7:21892486

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4183126

rs_374787771

3 SubmittersRCV000660496 RCV001036806

NM_001270974.2(HYDIN):c.131G>A (p.Arg44Gln)

SNV
Germline

Chr16:71186765

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 5
Condition: not provided
HYDIN-related disorder

Criteria Provided
Conflicting Classifications

CA8151690

rs_113448164

5 SubmittersRCV000660538 RCV003424266 RCV003918104

NM_080860.4(RSPH1):c.315C>G (p.Tyr105Ter)

SNV
Germline

Chr21:42486421

Pathogenic

Primary ciliary dyskinesia 24

Criteria Provided
Single Submitter

CA410366142

rs_144037391

1 SubmittersRCV000662169

NM_001369.3(DNAH5):c.7096C>T (p.Arg2366Trp)

SNV
Germline

Chr5:13814739

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA113925311

rs_868151020

4 SubmittersRCV000662279 RCV004768517

NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter)

SNV
Germline

Chr5:13717403

Pathogenic

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA3201583

rs_372118787

6 SubmittersRCV000674101 RCV000689854

NM_001369.3(DNAH5):c.11140A>G (p.Ile3714Val)

SNV
Germline

Chr5:13751149

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Condition: not provided
Primary ciliary dyskinesia
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA3202043

rs_143185806

6 SubmittersRCV000667283 RCV000732319 RCV000798835 RCV003945700

NM_012144.4(DNAI1):c.520G>A (p.Glu174Lys)

SNV
Germline

Chr9:34490387

Conflicting classifications of pathogenicity

Kartagener syndrome
Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA5034094

rs_141157671

4 SubmittersRCV000666986 RCV001756128 RCV000860525

NM_023036.6(DNAI2):c.1723-1G>T

SNV
Germline

Chr17:74314120

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 9
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8745910

rs_201909971

5 SubmittersRCV000667141 RCV000861095 RCV003442012

NM_001369.3(DNAH5):c.382G>A (p.Val128Met)

SNV
Germline

Chr5:13923336

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3205198

rs_200553244

5 SubmittersRCV000680160 RCV000796103 RCV001756145

NM_145038.5(DRC1):c.26C>T (p.Ala9Val)

SNV
Germline

Chr2:26402015

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1561720

rs_146049908

4 SubmittersRCV000692831 RCV002532224 RCV004692123

NM_015896.4(ZMYND10):c.1118G>A (p.Arg373Gln)

SNV
Germline

Chr3:50341813

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2416992

rs_373018717

2 SubmittersRCV000699716 RCV004686607

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_015896.4(ZMYND10):c.724A>G (p.Ser242Gly)

SNV
Germline

Chr3:50342546

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2417091

rs_761674579

2 SubmittersRCV000706955 RCV004026735

NM_001369.3(DNAH5):c.13591G>A (p.Glu4531Lys)

SNV
Germline

Chr5:13700772

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3201302

rs_201242847

6 SubmittersRCV000699961 RCV001151155 RCV004792404

NM_001369.3(DNAH5):c.12910-1G>C

SNV
Germline

Chr5:13714621

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359202700

rs_1561097225

2 SubmittersRCV000686699 RCV001845051

NM_001369.3(DNAH5):c.9897+1G>C

SNV
Germline

Chr5:13768959

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
DNAH5-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA113930688

rs_914675446

2 SubmittersRCV000689365 RCV003403594

NM_001369.3(DNAH5):c.8010+3A>G

SNV
Germline

Chr5:13793933

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA3202936

rs_748171209

5 SubmittersRCV000703704 RCV002223924 RCV005034324

NM_001369.3(DNAH5):c.5992G>A (p.Gly1998Arg)

SNV
Germline

Chr5:13830666

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA359202599

rs_1298790222

2 SubmittersRCV000691163

NM_001369.3(DNAH5):c.5059C>T (p.Gln1687Ter)

SNV
Germline

Chr5:13850707

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA359216914

rs_1188507108

2 SubmittersRCV000698857 RCV001078462

NM_001369.3(DNAH5):c.1958C>T (p.Thr653Met)

SNV
Germline

Chr5:13901346

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3204711

rs_201020293

4 SubmittersRCV000707154 RCV002282343

NM_001369.3(DNAH5):c.13346G>A (p.Trp4449Ter)

SNV
Germline

Chr5:13701429

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359193774

rs_1561073938

1 SubmittersRCV000692447

NM_001369.3(DNAH5):c.9374-2A>T

SNV
Germline

Chr5:13770982

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359205429

rs_1561215953

1 SubmittersRCV000701709

NM_001369.3(DNAH5):c.9235C>T (p.Arg3079Ter)

SNV
Germline

Chr5:13776577

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA359208925

rs_1175877764

2 SubmittersRCV000697619 RCV005034309

NM_001369.3(DNAH5):c.9034A>T (p.Ile3012Phe)

SNV
Germline

Chr5:13777273

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202637

rs_368476008

3 SubmittersRCV000691569

NM_001369.3(DNAH5):c.5198C>A (p.Ser1733Ter)

SNV
Germline

Chr5:13844910

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359214105

rs_146087064

1 SubmittersRCV000700397

NM_001369.3(DNAH5):c.3821T>C (p.Val1274Ala)

SNV
Germline

Chr5:13870780

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3204173

rs_761168416

3 SubmittersRCV000687990 RCV001154862

NM_001369.3(DNAH5):c.1089+1G>A

SNV
Germline

Chr5:13917142

Pathogenic

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Single Submitter

CA3204974

rs_574586008

4 SubmittersRCV000694519 RCV001580126

NM_001369.3(DNAH5):c.632C>T (p.Ser211Leu)

SNV
Germline

Chr5:13922135

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA3205142

rs_139857637

6 SubmittersRCV000691815 RCV003432737 RCV004742577

NM_001206927.2(DNAH8):c.6131+1G>A

SNV
Germline

Chr6:38860630

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3789566

rs_145974361

1 SubmittersRCV000704988

NM_001206927.2(DNAH8):c.10963-1G>A

SNV
Germline

Chr6:38926054

Likely pathogenic

Primary ciliary dyskinesia
Spermatogenic failure 46

Criteria Provided
Multiple Submitters
No Conflicts

CA3790885

rs_376903331

2 SubmittersRCV000704751 RCV004760742

NM_001206927.2(DNAH8):c.11602C>T (p.Arg3868Ter)

SNV
Germline

Chr6:38938012

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3791134

rs_769929539

1 SubmittersRCV000685592

NM_152732.5(RSPH9):c.283C>T (p.Gln95Ter)

SNV
Germline

Chr6:43650430

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA364288520

rs_1436804091

1 SubmittersRCV000705479

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_001277115.2(DNAH11):c.5500C>T (p.Arg1834Cys)

SNV
Germline

Chr7:21683823

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA4180457

rs_180897552

1 SubmittersRCV000703527

NM_001277115.2(DNAH11):c.9839A>C (p.Glu3280Ala)

SNV
Germline

Chr7:21787498

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182131

rs_747943621

2 SubmittersRCV000705958

NM_001277115.2(DNAH11):c.11114A>G (p.Tyr3705Cys)

SNV
Germline

Chr7:21854367

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182622

rs_370580628

2 SubmittersRCV000685097

NM_017802.4(DNAAF5):c.502C>G (p.Leu168Val)

SNV
Germline

Chr7:727222

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366530879

rs_900496106

2 SubmittersRCV000687187

NM_001277115.2(DNAH11):c.355C>G (p.Pro119Ala)

SNV
Germline

Chr7:21545009

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178664

rs_747193364

2 SubmittersRCV000705572

NM_001277115.2(DNAH11):c.3134G>A (p.Arg1045Gln)

SNV
Germline

Chr7:21600809

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4179537

rs_754350576

2 SubmittersRCV000692949 RCV001766489

NM_001277115.2(DNAH11):c.3544C>T (p.Arg1182Ter)

SNV
Germline

Chr7:21601514

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
DNAH11-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4179667

rs_374107286

5 SubmittersRCV000699843 RCV002477602 RCV004535743 RCV004721563

NM_001277115.2(DNAH11):c.4095+2C>A

SNV
Germline

Chr7:21616294

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA366951569

rs_532007878

4 SubmittersRCV000704362 RCV004737968

NM_001277115.2(DNAH11):c.4318G>C (p.Val1440Leu)

SNV
Germline

Chr7:21619163

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4179995

rs_753773546

3 SubmittersRCV000690805 RCV000764700

NM_001277115.2(DNAH11):c.4609A>G (p.Met1537Val)

SNV
Germline

Chr7:21635979

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180109

rs_371095430

2 SubmittersRCV000697902

NM_001277115.2(DNAH11):c.5991G>A (p.Pro1997=)

SNV
Germline

Chr7:21690831

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180629

rs_763685245

2 SubmittersRCV000696348

NM_001277115.2(DNAH11):c.6847G>A (p.Ala2283Thr)

SNV
Germline

Chr7:21711724

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181023

rs_372264255

2 SubmittersRCV000690685

NM_001277115.2(DNAH11):c.6984G>T (p.Pro2328=)

SNV
Germline

Chr7:21717775

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4181081

rs_761918179

3 SubmittersRCV000705449 RCV003437404

NM_001277115.2(DNAH11):c.10641A>G (p.Ile3547Met)

SNV
Germline

Chr7:21818289

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4182425

rs_368052967

3 SubmittersRCV000705055 RCV001162360

NM_001277115.2(DNAH11):c.11373+1G>A

SNV
Germline

Chr7:21862024

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366961536

rs_1175443221

1 SubmittersRCV000688720

NM_003114.5(SPAG1):c.1084G>A (p.Gly362Ser)

SNV
Germline

Chr8:100194256

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 28
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4827432

rs_755866717

2 SubmittersRCV000694692 RCV004025211

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_001369.3(DNAH5):c.11907G>A (p.Trp3969Ter)

SNV
Germline

Chr5:13727633

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359218363

rs_1561122898

1 SubmittersRCV000686675

NM_001369.3(DNAH5):c.11476C>T (p.Leu3826Phe)

SNV
Germline

Chr5:13735912

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided
Situs inversus

Criteria Provided
Conflicting Classifications

CA3201943

rs_146750552

11 SubmittersRCV000702699 RCV001155593 RCV001729690 RCV005250097

NM_001369.3(DNAH5):c.8449G>T (p.Asp2817Tyr)

SNV
Germline

Chr5:13788914

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359218211

rs_745885469

1 SubmittersRCV000693465

NM_001369.3(DNAH5):c.6268C>T (p.Arg2090Trp)

SNV
Germline

Chr5:13829686

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA3203437

rs_774191944

3 SubmittersRCV000686568 RCV005240464

NM_001369.3(DNAH5):c.2984-2A>C

SNV
Germline

Chr5:13883096

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3204426

rs_757801770

2 SubmittersRCV000700996 RCV002223921

NM_001369.3(DNAH5):c.2260-1G>A

SNV
Germline

Chr5:13894822

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359201556

rs_1561524235

1 SubmittersRCV000686385

NM_001369.3(DNAH5):c.2200C>G (p.Leu734Val)

SNV
Germline

Chr5:13900265

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3204645

rs_139180192

4 SubmittersRCV000698730 RCV003144544

NM_001369.3(DNAH5):c.997C>T (p.Arg333Ter)

SNV
Germline

Chr5:13917235

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359218134

rs_771956532

1 SubmittersRCV000694717

NM_001369.3(DNAH5):c.193-2A>G

SNV
Germline

Chr5:13928180

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3205251

rs_769267893

2 SubmittersRCV000706569

NM_015896.4(ZMYND10):c.700+1G>A

SNV
Germline

Chr3:50342917

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA352941549

rs_1297857806

1 SubmittersRCV000701037

NM_012144.4(DNAI1):c.40C>T (p.His14Tyr)

SNV
Germline

Chr9:34459045

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA5033876

rs_146501326

3 SubmittersRCV000703682

NM_001010892.3(RSPH4A):c.1393C>T (p.Arg465Ter)

SNV
Germline

Chr6:116628100

Pathogenic

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Single Submitter

CA3970938

rs_755782051

2 SubmittersRCV000699729 RCV001357232

NM_001206927.2(DNAH8):c.3333+1G>A

SNV
Germline

Chr6:38814130

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3788802

rs_756616538

1 SubmittersRCV000700010

NM_001206927.2(DNAH8):c.4800A>T (p.Arg1600Ser)

SNV
Germline

Chr6:38842858

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3789206

rs_141012833

3 SubmittersRCV000703159 RCV004584795 RCV005328363

NM_012144.4(DNAI1):c.1454C>T (p.Thr485Met)

SNV
Germline

Chr9:34512389

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Kartagener syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5034406

rs_137935543

5 SubmittersRCV000691726 RCV001167944 RCV004692116

NM_001277115.2(DNAH11):c.1055C>T (p.Thr352Met)

SNV
Germline

Chr7:21564258

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178889

rs_200824684

2 SubmittersRCV000697103

NM_001277115.2(DNAH11):c.3356G>A (p.Ser1119Asn)

SNV
Germline

Chr7:21601110

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4179601

rs_754921505

6 SubmittersRCV000697962 RCV000765954 RCV001766512

NM_001277115.2(DNAH11):c.10637C>T (p.Thr3546Met)

SNV
Germline

Chr7:21818285

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4182423

rs_374549012

3 SubmittersRCV000687277 RCV004588107

NM_001277115.2(DNAH11):c.11271C>G (p.Ile3757Met)

SNV
Germline

Chr7:21861921

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182689

rs_757371608

2 SubmittersRCV000694409

NM_016616.5(NME8):c.311C>T (p.Pro104Leu)

SNV
Germline

Chr7:37862068

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 6
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4222145

rs_567620217

2 SubmittersRCV000685597 RCV002325351

NM_016616.5(NME8):c.742C>A (p.Pro248Thr)

SNV
Germline

Chr7:37867822

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 6
Primary ciliary dyskinesia
NME8-related disorder

Criteria Provided
Conflicting Classifications

CA4222324

rs_201277639

3 SubmittersRCV000691609 RCV004822172 RCV004754532

NM_017802.4(DNAAF5):c.1470+1G>A

SNV
Germline

Chr7:756995

Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 18

Criteria Provided
Multiple Submitters
No Conflicts

CA4110733

rs_767713588

2 SubmittersRCV000694858 RCV003453459

NM_018076.5(ODAD2):c.2800-2A>G

SNV
Germline

Chr10:27860848

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia 23

Criteria Provided
Multiple Submitters
No Conflicts

CA376492387

rs_1297261096

2 SubmittersRCV000699778

NM_018076.5(ODAD2):c.1076G>A (p.Trp359Ter)

SNV
Germline

Chr10:27971174

Pathogenic

Primary ciliary dyskinesia 23

Criteria Provided
Single Submitter

CA5453641

rs_768447289

1 SubmittersRCV000692492

NM_012472.6(DNAAF11):c.644A>G (p.Asn215Ser)

SNV
Germline

Chr8:132632749

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 19
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4881340

rs_143717300

2 SubmittersRCV000707176 RCV002462060

NM_001369.3(DNAH5):c.13338+5G>A

SNV
Germline

Chr5:13708118

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3201398

rs_374718437

1 SubmittersRCV000693637

NM_001369.3(DNAH5):c.12499+2T>G

SNV
Germline

Chr5:13718880

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359208717

rs_1484826593

1 SubmittersRCV000695016

NM_001369.3(DNAH5):c.9410G>A (p.Cys3137Tyr)

SNV
Germline

Chr5:13770944

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3202548

rs_143357437

2 SubmittersRCV000701844 RCV003236836

NM_001369.3(DNAH5):c.9125G>A (p.Arg3042Gln)

SNV
Germline

Chr5:13776687

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202605

rs_200839716

3 SubmittersRCV000705507 RCV002477628

NM_001369.3(DNAH5):c.6444G>A (p.Gln2148=)

SNV
Germline

Chr5:13829510

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3203407

rs_769544175

2 SubmittersRCV000698945

NM_001369.3(DNAH5):c.439-2A>G

SNV
Germline

Chr5:13922330

Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA3205175

rs_565076112

3 SubmittersRCV000692449 RCV005046938

NM_031924.8(RSPH3):c.685C>T (p.Arg229Ter)

SNV
Germline

Chr6:158982496

Pathogenic

Primary ciliary dyskinesia 32

Criteria Provided
Single Submitter

CA366280353

rs_1158185476

1 SubmittersRCV000690816

NM_031924.8(RSPH3):c.548C>T (p.Thr183Ile)

SNV
Germline

Chr6:158982633

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 32
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4075871

rs_201137146

2 SubmittersRCV000705617 RCV002536400

NM_001206927.2(DNAH8):c.619C>T (p.Arg207Ter)

SNV
Germline

Chr6:38734482

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3787999

rs_776176679

1 SubmittersRCV000700884

NM_001206927.2(DNAH8):c.9304G>T (p.Glu3102Ter)

SNV
Germline

Chr6:38906363

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA364001472

rs_1223799853

1 SubmittersRCV000703864

NM_001206927.2(DNAH8):c.11563+1G>T

SNV
Germline

Chr6:38935698

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA3791089

rs_776791493

2 SubmittersRCV000690985

NM_152732.5(RSPH9):c.98T>C (p.Met33Thr)

SNV
Germline

Chr6:43645196

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3828209

rs_374043705

2 SubmittersRCV000697174

NM_012144.4(DNAI1):c.1612G>A (p.Ala538Thr)

SNV
Germline

Chr9:34514436

Pathogenic

Primary ciliary dyskinesia
See cases
Kartagener syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA5034482

rs_368248592

6 SubmittersRCV000707353 RCV004584407 RCV005046969

NM_001277115.2(DNAH11):c.1084G>C (p.Ala362Pro)

SNV
Germline

Chr7:21564287

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366933812

rs_771256529

2 SubmittersRCV000688859

NM_001277115.2(DNAH11):c.2689G>A (p.Ala897Thr)

SNV
Germline

Chr7:21599808

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179407

rs_767822847

2 SubmittersRCV000692539

NM_001277115.2(DNAH11):c.6383G>A (p.Arg2128Gln)

SNV
Germline

Chr7:21704543

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4180802

rs_544234928

3 SubmittersRCV000702317 RCV001163601 RCV002298745

NM_001277115.2(DNAH11):c.12100C>G (p.Pro4034Ala)

SNV
Germline

Chr7:21873406

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182967

rs_759056367

2 SubmittersRCV000697458

NM_012144.4(DNAI1):c.1352T>A (p.Phe451Tyr)

SNV
Germline

Chr9:34512149

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA5034362

rs_148810969

1 SubmittersRCV000694022

NM_017950.4(CCDC40):c.855+1G>A

SNV
Germline

Chr17:80048762

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA401354453

rs_1346603171

2 SubmittersRCV000701340 RCV001090256

NM_017950.4(CCDC40):c.1312A>T (p.Lys438Ter)

SNV
Germline

Chr17:80058646

Pathogenic

Primary ciliary dyskinesia
CCDC40-related disorder
Primary ciliary dyskinesia 15

Criteria Provided
Multiple Submitters
No Conflicts

CA8813770

rs_371595543

3 SubmittersRCV000696160 RCV003965446 RCV004556816

NM_178452.6(DNAAF1):c.694C>G (p.Leu232Val)

SNV
Germline

Chr16:84155702

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA8202574

rs_761851970

1 SubmittersRCV000702471

NM_178452.6(DNAAF1):c.1906C>T (p.Arg636Ter)

SNV
Germline

Chr16:84176140

Pathogenic

Primary ciliary dyskinesia
Respiratory ciliopathies including non-CF bronchiectasis

Criteria Provided
Multiple Submitters
No Conflicts

CA8203055

rs_748869874

2 SubmittersRCV000690583 RCV004782515

NM_001256715.2(DNAAF3):c.350G>A (p.Trp117Ter)

SNV
Germline

Chr19:55162263

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 2

Criteria Provided
Multiple Submitters
No Conflicts

CA310155304

rs_770403610

2 SubmittersRCV000693702 RCV000763441

NM_023036.6(DNAI2):c.546C>A (p.Tyr182Ter)

SNV
Germline

Chr17:74289672

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA8745393

rs_770946088

1 SubmittersRCV000686069

NM_017950.4(CCDC40):c.415C>T (p.Gln139Ter)

SNV
Germline

Chr17:80040133

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA8813438

rs_764551914

1 SubmittersRCV000698577

NM_017950.4(CCDC40):c.697G>A (p.Asp233Asn)

SNV
Germline

Chr17:80048603

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 15
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8813550

rs_201815496

5 SubmittersRCV001125772 RCV000707624 RCV003480797

NM_145045.5(ODAD3):c.964-1G>A

SNV
Germline

Chr19:11424030

Likely pathogenic

Primary ciliary dyskinesia 30
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA404122049

rs_1480671731

2 SubmittersRCV000690912 RCV004817931

NM_017950.4(CCDC40):c.424C>T (p.Gln142Ter)

SNV
Germline

Chr17:80040142

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 15

Criteria Provided
Multiple Submitters
No Conflicts

CA401348365

rs_1568667609

2 SubmittersRCV000693536 RCV002507205

NM_017950.4(CCDC40):c.1105G>A (p.Ala369Thr)

SNV
Germline

Chr17:80050229

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 15

Criteria Provided
Conflicting Classifications

CA8813683

rs_371071557

3 SubmittersRCV000686924 RCV001127876

NM_017950.4(CCDC40):c.1591G>A (p.Asp531Asn)

SNV
Germline

Chr17:80081574

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8813979

rs_758243927

2 SubmittersRCV000693143

NM_017950.4(CCDC40):c.1594G>A (p.Gly532Ser)

SNV
Germline

Chr17:80081577

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA294858796

rs_936824026

3 SubmittersRCV000690312 RCV005414530

NM_017950.4(CCDC40):c.2235+1G>T

SNV
Germline

Chr17:80084989

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA401344394

rs_1568709952

1 SubmittersRCV000691179

NM_017950.4(CCDC40):c.2440C>T (p.Arg814Ter)

SNV
Germline

Chr17:80086207

Pathogenic

Primary ciliary dyskinesia
Combined immunodeficiency due to DOCK8 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA8814192

rs_747233125

3 SubmittersRCV000689717 RCV003448338

NM_001256715.2(DNAAF3):c.86-64G>A

SNV
Germline

Chr19:55166064

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA9668242

rs_543369426

1 SubmittersRCV000696666

NM_003611.3(OFD1):c.919G>A (p.Val307Ile)

SNV
Germline

ChrX:13749517

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Orofaciodigital syndrome I
OFD1-related disorder
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351711

rs_139444990

4 SubmittersRCV000712459 RCV002060889 RCV004535766 RCV004026820

NM_003611.3(OFD1):c.655-2A>G

SNV
Germline

ChrX:13746778

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412337767

rs_1569122408

1 SubmittersRCV004026883

NM_003611.3(OFD1):c.2192C>T (p.Ser731Phe)

SNV
Germline

ChrX:13760652

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351946

rs_375698090

2 SubmittersRCV002060911 RCV004026864

NM_001277115.2(DNAH11):c.2486G>A (p.Arg829His)

SNV
Germline

Chr7:21591396

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA4179350

rs_201261243

7 SubmittersRCV000728245 RCV001079918 RCV002227215 RCV004737981

NM_001034853.2(RPGR):c.154G>A (p.Gly52Arg)

SNV
Germline

ChrX:38323399

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Primary ciliary dyskinesia
Retinitis pigmentosa 3

Criteria Provided
Conflicting Classifications

CA412745725

rs_281865296

7 SubmittersRCV000728997 RCV001073452 RCV002536421 RCV004546559

NM_001369.3(DNAH5):c.4797-1G>C

SNV
Germline

Chr5:13859606

Pathogenic/Likely pathogenic

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA359220333

rs_1561449604

2 SubmittersRCV000730516 RCV003647803

NM_001369.3(DNAH5):c.271G>T (p.Glu91Ter)

SNV
Germline

Chr5:13928100

Pathogenic

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA3205237

rs_750649191

2 SubmittersRCV000732076 RCV001384589

NM_001277115.2(DNAH11):c.5501G>A (p.Arg1834His)

SNV
Germline

Chr7:21683824

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4180458

rs_750430725

5 SubmittersRCV000732078 RCV002343600 RCV005253100

NM_001277115.2(DNAH11):c.1671A>C (p.Glu557Asp)

SNV
Germline

Chr7:21581982

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA366937312

rs_764968620

4 SubmittersRCV000732081 RCV001855672 RCV003221305

NM_001369.3(DNAH5):c.9203A>G (p.Glu3068Gly)

SNV
Germline

Chr5:13776609

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA3202596

rs_141571121

5 SubmittersRCV000732316 RCV001083277 RCV003485638 RCV003955465

NM_001369.3(DNAH5):c.2306C>T (p.Ala769Val)

SNV
Germline

Chr5:13894775

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3204614

rs_200101760

6 SubmittersRCV000734675 RCV000800504 RCV001156629

NM_018897.3(DNAH7):c.8209G>A (p.Gly2737Ser)

SNV
Germline

Chr2:195857582

Pathogenic

Primary ciliary dyskinesia
Abdominal situs inversus

No Assertion Criteria Provided

CA2034688

rs_770861172

1 SubmittersRCV000736281

NM_018897.3(DNAH7):c.11947C>T (p.Arg3983Trp)

SNV
Germline

Chr2:195738049

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Abdominal situs inversus
Condition: not provided
Male infertility with azoospermia or oligozoospermia due to single gene mutation

Criteria Provided
Conflicting Classifications

CA2033582

rs_114621989

5 SubmittersRCV000736282 RCV000963426 RCV005357980

NM_003611.3(OFD1):c.2815G>T (p.Glu939Ter)

SNV
Germline

ChrX:13768111

Pathogenic

Joubert syndrome
Primary ciliary dyskinesia

No Assertion Criteria Provided

CA412312920

rs_1569164829

1 SubmittersRCV000758012

NM_003611.3(OFD1):c.2797G>T (p.Glu933Ter)

SNV
Germline

ChrX:13768093

Pathogenic

Joubert syndrome
Primary ciliary dyskinesia

No Assertion Criteria Provided

CA412312731

rs_1569164733

1 SubmittersRCV000758013

NM_001277115.2(DNAH11):c.3133C>T (p.Arg1045Ter)

SNV
Germline

Chr7:21600808

Pathogenic/Likely pathogenic

Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA4179536

rs_377691013

4 SubmittersRCV000760753 RCV001069750 RCV002282360

NM_001277115.2(DNAH11):c.11533C>T (p.Arg3845Ter)

SNV
Germline

Chr7:21866506

Pathogenic/Likely pathogenic

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA366961900

rs_1309805676

2 SubmittersRCV000760669 RCV001041829

NM_001277115.2(DNAH11):c.7646-1G>T

SNV
Germline

Chr7:21738700

Likely pathogenic

Condition: not provided
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA366950128

rs_1327282449

2 SubmittersRCV000762447 RCV005253112

NM_001277115.2(DNAH11):c.5047G>T (p.Glu1683Ter)

SNV
Germline

Chr7:21655934

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA366938203

rs_767308949

2 SubmittersRCV000778826 RCV001389256

NM_018139.3(DNAAF2):c.1585C>T (p.Gln529Ter)

SNV
Germline

Chr14:49633565

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
DNAAF2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7172880

rs_139416233

3 SubmittersRCV000802832 RCV003392589

NM_023036.6(DNAI2):c.725-2A>C

SNV
Germline

Chr17:74299716

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA400907907

rs_1448501611

1 SubmittersRCV001869133

NM_001256715.2(DNAAF3):c.1051G>A (p.Ala351Thr)

SNV
Germline

Chr19:55160011

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA9667925

rs_748600370

1 SubmittersRCV003652445

NM_000397.4(CYBB):c.1103C>T (p.Ala368Val)

SNV
Germline/somatic

ChrX:37804082

Conflicting classifications of pathogenicity

Recurrent bronchitis
Primary ciliary dyskinesia
Dynein arm defect of respiratory motile cilia
Granulomatous disease, chronic, X-linked

Criteria Provided
Conflicting Classifications

CA10383829

rs_781935760

2 SubmittersRCV000785880 RCV002067386

NM_001034853.2(RPGR):c.1234C>T (p.Arg412Ter)

SNV
Germline

ChrX:38298967

Pathogenic

Retinitis pigmentosa
Retinal dystrophy
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412739725

rs_1601943268

5 SubmittersRCV000787706 RCV001075872 RCV001856213 RCV002464319

NM_001277115.2(DNAH11):c.698C>T (p.Pro233Leu)

SNV
Germline

Chr7:21559608

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4178762

rs_776376992

6 SubmittersRCV000788157 RCV001856221 RCV002466582

NM_001277115.2(DNAH11):c.8104A>G (p.Ile2702Val)

SNV
Germline

Chr7:21742116

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181464

rs_760332753

2 SubmittersRCV000788297 RCV002535772

NM_015896.4(ZMYND10):c.485G>A (p.Gly162Glu)

SNV
Germline

Chr3:50343332

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2417198

rs_141261384

2 SubmittersRCV000791769 RCV004027395

NM_001369.3(DNAH5):c.12880A>G (p.Thr4294Ala)

SNV
Germline

Chr5:13716516

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3201513

rs_765649176

4 SubmittersRCV000792988 RCV001155176

NM_001369.3(DNAH5):c.12631G>T (p.Glu4211Ter)

SNV
Germline

Chr5:13717389

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA359206981

rs_762673561

2 SubmittersRCV000817510 RCV005036206

NM_001369.3(DNAH5):c.11804C>A (p.Ser3935Ter)

SNV
Germline

Chr5:13729518

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359220186

rs_1579942510

1 SubmittersRCV000816252

NM_001369.3(DNAH5):c.11320T>C (p.Ser3774Pro)

SNV
Germline

Chr5:13737387

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202001

rs_766646786

6 SubmittersRCV000806450 RCV004693319 RCV002477854

NM_001369.3(DNAH5):c.11300G>A (p.Arg3767His)

SNV
Germline

Chr5:13737407

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202007

rs_138838869

3 SubmittersRCV000805249 RCV005367575

NM_001369.3(DNAH5):c.10789G>T (p.Ala3597Ser)

SNV
Germline

Chr5:13753316

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202139

rs_368959723

4 SubmittersRCV000810306 RCV001250557

NM_001369.3(DNAH5):c.10084T>A (p.Phe3362Ile)

SNV
Germline

Chr5:13765993

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202335

rs_373406041

3 SubmittersRCV000799462

NM_001369.3(DNAH5):c.9694C>T (p.Gln3232Ter)

SNV
Germline

Chr5:13769527

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA113931330

rs_369683202

2 SubmittersRCV000821903 RCV005036222

NM_001369.3(DNAH5):c.9534C>A (p.Tyr3178Ter)

SNV
Germline

Chr5:13770820

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359204463

rs_1580150353

1 SubmittersRCV000807854

NM_001369.3(DNAH5):c.9480T>A (p.Cys3160Ter)

SNV
Germline

Chr5:13770874

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA3202538

rs_764948792

2 SubmittersRCV000807882

NM_001369.3(DNAH5):c.9124C>T (p.Arg3042Ter)

SNV
Germline

Chr5:13776688

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Glycine encephalopathy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA3202606

rs_760595654

3 SubmittersRCV000797061 RCV001250558 RCV005256684

NM_001369.3(DNAH5):c.8926G>A (p.Val2976Ile)

SNV
Germline

Chr5:13780854

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3202672

rs_752086486

4 SubmittersRCV000795554 RCV004692271

NM_001369.3(DNAH5):c.8837G>A (p.Arg2946His)

SNV
Germline

Chr5:13780943

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3202696

rs_140975593

4 SubmittersRCV000818210 RCV004693375

NM_001369.3(DNAH5):c.8383C>T (p.Arg2795Ter)

SNV
Germline

Chr5:13792059

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA3202835

rs_560398270

4 SubmittersRCV000812139

NM_001369.3(DNAH5):c.8167C>T (p.Gln2723Ter)

SNV
Germline

Chr5:13793572

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359221180

rs_1309660408

2 SubmittersRCV000823387

NM_001369.3(DNAH5):c.7985C>G (p.Pro2662Arg)

SNV
Germline

Chr5:13793961

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA113962414

rs_981622980

1 SubmittersRCV000793946

NM_001369.3(DNAH5):c.7823A>T (p.Asp2608Val)

SNV
Germline

Chr5:13807655

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202994

rs_189971831

3 SubmittersRCV000802292 RCV001153279

NM_001369.3(DNAH5):c.5266G>T (p.Glu1756Ter)

SNV
Germline

Chr5:13844842

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359213557

rs_116524991

1 SubmittersRCV000818476

NM_001369.3(DNAH5):c.5162C>G (p.Ser1721Ter)

SNV
Germline

Chr5:13844946

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359214286

rs_1580543538

1 SubmittersRCV000808890

NM_001369.3(DNAH5):c.5037T>A (p.Cys1679Ter)

SNV
Germline

Chr5:13850729

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359217070

rs_1580578744

1 SubmittersRCV000815168

NM_001369.3(DNAH5):c.5036G>A (p.Cys1679Tyr)

SNV
Germline

Chr5:13850730

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359217075

rs_1221785647

1 SubmittersRCV000796716

NM_001369.3(DNAH5):c.4116G>C (p.Gln1372His)

SNV
Germline

Chr5:13866220

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3204076

rs_139463637

5 SubmittersRCV000821322 RCV004702458 RCV005047114

NM_001369.3(DNAH5):c.3302T>C (p.Val1101Ala)

SNV
Germline

Chr5:13876778

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3204316

rs_376453450

4 SubmittersRCV000817390 RCV004777895

NM_001369.3(DNAH5):c.2471T>C (p.Ile824Thr)

SNV
Germline

Chr5:13891082

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204576

rs_147108941

3 SubmittersRCV000805569

NM_001369.3(DNAH5):c.2462A>G (p.Asn821Ser)

SNV
Germline

Chr5:13891091

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204579

rs_750670743

3 SubmittersRCV000801304

NM_001369.3(DNAH5):c.1915C>T (p.Gln639Ter)

SNV
Germline

Chr5:13901389

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359205483

rs_1580809557

1 SubmittersRCV000796160

NM_001369.3(DNAH5):c.1852C>T (p.Arg618Ter)

SNV
Germline

Chr5:13901452

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA113944430

rs_778780449

4 SubmittersRCV000798089 RCV003448348 RCV003128704

NM_001369.3(DNAH5):c.1837G>A (p.Asp613Asn)

SNV
Germline

Chr5:13901467

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3204734

rs_141072655

4 SubmittersRCV000817524 RCV001154228

NM_001369.3(DNAH5):c.935T>G (p.Val312Gly)

SNV
Germline

Chr5:13919216

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3205034

rs_762677340

3 SubmittersRCV000824597 RCV005036231

NM_001369.3(DNAH5):c.553G>A (p.Glu185Lys)

SNV
Germline

Chr5:13922214

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3205151

rs_752339132

3 SubmittersRCV000821914 RCV002487847

NM_001369.3(DNAH5):c.46C>T (p.Arg16Ter)

SNV
Germline

Chr5:13944393

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3205308

rs_772230378

4 SubmittersRCV000810523 RCV004723224 RCV002507409

NM_001010892.3(RSPH4A):c.1103T>G (p.Val368Gly)

SNV
Germline

Chr6:116627810

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 11

Criteria Provided
Conflicting Classifications

CA3970899

rs_747419302

2 SubmittersRCV000805555 RCV001809821

NM_001010892.3(RSPH4A):c.1391G>A (p.Gly464Glu)

SNV
Germline

Chr6:116628098

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3970937

rs_753041231

1 SubmittersRCV000793143

NM_031924.8(RSPH3):c.169C>T (p.Arg57Ter)

SNV
Germline

Chr6:158993874

Pathogenic

Primary ciliary dyskinesia 32

Criteria Provided
Single Submitter

CA4075976

rs_760122351

1 SubmittersRCV000805504

NM_031924.8(RSPH3):c.-386A>G

SNV
Germline

Chr6:158999936

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 32
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA151052649

rs_754166423

2 SubmittersRCV000800117 RCV004669123

NM_001206927.2(DNAH8):c.767C>T (p.Ala256Val)

SNV
Germline

Chr6:38737071

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA3788046

rs_776968317

2 SubmittersRCV000822718 RCV004029112

NM_001206927.2(DNAH8):c.8632C>T (p.Arg2878Ter)

SNV
Germline

Chr6:38894749

Pathogenic

Primary ciliary dyskinesia
Inherited obesity

Criteria Provided
Multiple Submitters
No Conflicts

CA3790260

rs_149070832

2 SubmittersRCV000809648 RCV005414539

NM_001206927.2(DNAH8):c.8752A>G (p.Ile2918Val)

SNV
Germline

Chr6:38896037

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA3790308

rs_148193715

2 SubmittersRCV000802394 RCV004028107

NM_001206927.2(DNAH8):c.9748C>T (p.Arg3250Ter)

SNV
Germline

Chr6:38911475

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3790563

rs_747123680

1 SubmittersRCV000822721

NM_152732.5(RSPH9):c.799G>T (p.Glu267Ter)

SNV
Germline

Chr6:43670917

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA364278540

rs_1554149875

1 SubmittersRCV000803010

NM_001277115.2(DNAH11):c.618G>C (p.Met206Ile)

SNV
Germline

Chr7:21558924

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178724

rs_374350787

2 SubmittersRCV000796915

NM_001277115.2(DNAH11):c.1311T>A (p.Tyr437Ter)

SNV
Germline

Chr7:21570185

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA4178951

rs_559143773

1 SubmittersRCV000821002

NM_001277115.2(DNAH11):c.2102A>G (p.Asn701Ser)

SNV
Germline

Chr7:21589336

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4179220

rs_369770445

3 SubmittersRCV000796916 RCV005427299

NM_001277115.2(DNAH11):c.2579C>T (p.Ala860Val)

SNV
Germline

Chr7:21591489

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179377

rs_200459876

2 SubmittersRCV000805952

NM_001277115.2(DNAH11):c.2874A>C (p.Lys958Asn)

SNV
Germline

Chr7:21599993

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4179457

rs_180920616

2 SubmittersRCV000823998 RCV001161649

NM_001277115.2(DNAH11):c.3109C>G (p.His1037Asp)

SNV
Germline

Chr7:21600784

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4179532

rs_370878348

3 SubmittersRCV000806649 RCV003151813

NM_001277115.2(DNAH11):c.3208G>T (p.Glu1070Ter)

SNV
Germline

Chr7:21600883

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366945340

rs_949492765

1 SubmittersRCV000810427

NM_001277115.2(DNAH11):c.3281T>A (p.Val1094Asp)

SNV
Germline

Chr7:21601035

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179584

rs_369213196

2 SubmittersRCV000806984

NM_001277115.2(DNAH11):c.5266A>G (p.Ile1756Val)

SNV
Germline

Chr7:21658969

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4180345

rs_201257328

3 SubmittersRCV000823824 RCV005054274

NM_001277115.2(DNAH11):c.5350A>G (p.Ile1784Val)

SNV
Germline

Chr7:21681567

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180382

rs_764134388

2 SubmittersRCV000806482

NM_001277115.2(DNAH11):c.5434G>A (p.Val1812Met)

SNV
Germline

Chr7:21681651

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180406

rs_376798792

2 SubmittersRCV000812805

NM_001277115.2(DNAH11):c.5846G>A (p.Arg1949Gln)

SNV
Germline

Chr7:21687449

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
not specified

Criteria Provided
Conflicting Classifications

CA155116706

rs_761919869

4 SubmittersRCV000794798 RCV005253128 RCV005407967

NM_001277115.2(DNAH11):c.5875G>A (p.Ala1959Thr)

SNV
Germline

Chr7:21687478

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180580

rs_373077301

2 SubmittersRCV000817307

NM_001277115.2(DNAH11):c.6506C>T (p.Ser2169Leu)

SNV
Germline

Chr7:21705497

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA4180849

rs_373946181

5 SubmittersRCV000814773 RCV005036198

NM_001277115.2(DNAH11):c.7279C>G (p.Gln2427Glu)

SNV
Germline

Chr7:21725823

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA4181180

rs_202236144

3 SubmittersRCV000824513 RCV004702464

NM_001277115.2(DNAH11):c.7864G>A (p.Ala2622Thr)

SNV
Germline

Chr7:21739623

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181386

rs_200462132

2 SubmittersRCV000815001

NM_001277115.2(DNAH11):c.8141C>G (p.Ser2714Ter)

SNV
Germline

Chr7:21742153

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366952288

rs_1237605731

1 SubmittersRCV000809053

NM_001277115.2(DNAH11):c.8353A>G (p.Ile2785Val)

SNV
Germline

Chr7:21744906

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181578

rs_776228270

2 SubmittersRCV000798122

NM_001277115.2(DNAH11):c.8516G>A (p.Arg2839His)

SNV
Germline

Chr7:21748585

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366955046

rs_1253630975

2 SubmittersRCV000824587

NM_001277115.2(DNAH11):c.8764T>C (p.Phe2922Leu)

SNV
Germline

Chr7:21749768

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4181707

rs_552567607

3 SubmittersRCV000800156 RCV005235482

NM_001277115.2(DNAH11):c.9733A>G (p.Met3245Val)

SNV
Germline

Chr7:21786759

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366940877

rs_1307575374

2 SubmittersRCV000794752

NM_001277115.2(DNAH11):c.10286G>A (p.Arg3429His)

SNV
Germline

Chr7:21808003

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA4182307

rs_756115857

1 SubmittersRCV000824321

NM_001277115.2(DNAH11):c.12232A>T (p.Lys4078Ter)

SNV
Germline

Chr7:21880738

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366963922

rs_1583806864

1 SubmittersRCV000796478

NM_001277115.2(DNAH11):c.12673C>G (p.Leu4225Val)

SNV
Germline

Chr7:21892590

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4183145

rs_777887934

2 SubmittersRCV000797928

NM_001277115.2(DNAH11):c.13171C>T (p.Gln4391Ter)

SNV
Germline

Chr7:21899988

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA4183356

rs_761855200

1 SubmittersRCV000808606

NM_017802.4(DNAAF5):c.221C>A (p.Ala74Glu)

SNV
Germline

Chr7:726941

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4110355

rs_756968294

2 SubmittersRCV000820920

NM_017802.4(DNAAF5):c.926G>A (p.Trp309Ter)

SNV
Germline

Chr7:741367

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 18

Criteria Provided
Multiple Submitters
No Conflicts

CA366534377

rs_1489856215

2 SubmittersRCV000806857 RCV002478871

NM_017802.4(DNAAF5):c.948G>A (p.Trp316Ter)

SNV
Germline

Chr7:741389

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA4110544

rs_201507046

1 SubmittersRCV000821491

NM_017802.4(DNAAF5):c.1328C>T (p.Thr443Met)

SNV
Germline

Chr7:756852

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4110690

rs_777008597

2 SubmittersRCV000798487

NM_017802.4(DNAAF5):c.1816G>A (p.Val606Met)

SNV
Germline

Chr7:770503

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4110942

rs_200034358

3 SubmittersRCV000814889 RCV003106075

NM_017802.4(DNAAF5):c.2006C>T (p.Thr669Ile)

SNV
Germline

Chr7:774122

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4111039

rs_141955563

3 SubmittersRCV000813383 RCV004792515

NM_003114.5(SPAG1):c.878G>A (p.Arg293Gln)

SNV
Germline

Chr8:100191435

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 28
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4827389

rs_750321216

2 SubmittersRCV000803072 RCV002370128

NM_003114.5(SPAG1):c.1663C>T (p.Gln555Ter)

SNV
Germline

Chr8:100220406

Pathogenic

Primary ciliary dyskinesia 28

Criteria Provided
Single Submitter

CA4827557

rs_770251775

1 SubmittersRCV000802804

NM_012144.4(DNAI1):c.1163G>A (p.Cys388Tyr)

SNV
Germline

Chr9:34506726

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Kartagener syndrome

Criteria Provided
Conflicting Classifications

CA5034309

rs_767667443

5 SubmittersRCV000800816 RCV001167342

NM_012144.4(DNAI1):c.1693G>A (p.Val565Met)

SNV
Germline

Chr9:34514517

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Kartagener syndrome

Criteria Provided
Conflicting Classifications

CA5034497

rs_139953639

4 SubmittersRCV000792439 RCV001333655

NM_018076.5(ODAD2):c.724C>T (p.Gln242Ter)

SNV
Germline

Chr10:27983938

Pathogenic

Primary ciliary dyskinesia 23
ODAD2-related disorder

Criteria Provided
Single Submitter

CA5453735

rs_369669370

2 SubmittersRCV000816238 RCV003892749

NM_033124.5(CCDC65):c.718C>T (p.Arg240Ter)

SNV
Germline

Chr12:48918383

Pathogenic

Primary ciliary dyskinesia 27

Criteria Provided
Single Submitter

CA384629684

rs_1003676784

1 SubmittersRCV000798737

NM_018139.3(DNAAF2):c.982G>A (p.Asp328Asn)

SNV
Germline

Chr14:49634168

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 10

Criteria Provided
Conflicting Classifications

CA7172979

rs_201566715

3 SubmittersRCV000819693 RCV003145202

NM_178452.6(DNAAF1):c.1876A>T (p.Lys626Ter)

SNV
Germline

Chr16:84176110

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA396950857

rs_1489377964

1 SubmittersRCV000821017

NM_023036.6(DNAI2):c.1132A>T (p.Lys378Ter)

SNV
Germline

Chr17:74305363

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA400910235

rs_1598330492

1 SubmittersRCV000818675

NM_017950.4(CCDC40):c.2647C>T (p.Gln883Ter)

SNV
Germline

Chr17:80088038

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA8814290

rs_755004291

1 SubmittersRCV000822169

NM_017950.4(CCDC40):c.3344G>A (p.Arg1115Gln)

SNV
Germline

Chr17:80099690

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA294882515

rs_771414681

2 SubmittersRCV000823742

NM_145045.5(ODAD3):c.487C>T (p.Gln163Ter)

SNV
Germline

Chr19:11426998

Pathogenic

Primary ciliary dyskinesia 30

Criteria Provided
Single Submitter

CA404125303

rs_1277185772

1 SubmittersRCV000801732

NM_001364171.2(ODAD1):c.1175C>T (p.Ser392Leu)

SNV
Germline

Chr19:48302759

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA9548795

rs_201978870

2 SubmittersRCV000812145

NM_001256715.2(DNAAF3):c.1135C>T (p.Arg379Ter)

SNV
Germline

Chr19:55159927

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA9667897

rs_763874734

1 SubmittersRCV000817818

NM_001256715.2(DNAAF3):c.705C>G (p.Asp235Glu)

SNV
Germline

Chr19:55161377

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA9668087

rs_371668705

3 SubmittersRCV000803820

NM_080860.4(RSPH1):c.196C>T (p.Arg66Ter)

SNV
Germline

Chr21:42492836

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 24

Criteria Provided
Multiple Submitters
No Conflicts

CA10044020

rs_753105954

2 SubmittersRCV000823003 RCV001784456

NM_015896.4(ZMYND10):c.510+1G>A

SNV
Germline

Chr3:50343306

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2417192

rs_373312648

2 SubmittersRCV000799364 RCV002223245

NM_001369.3(DNAH5):c.11029-2A>T

SNV
Germline

Chr5:13751262

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
DNAH5-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA3202064

rs_369312501

3 SubmittersRCV000799026 RCV003983207

NM_001369.3(DNAH5):c.9105+2T>C

SNV
Germline

Chr5:13777200

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359210012

rs_1580179985

1 SubmittersRCV000815740

NM_021147.5(CCNO):c.382-1G>T

SNV
Germline

Chr5:55232547

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359723679

rs_1580411207

1 SubmittersRCV000803761

NM_001369.3(DNAH5):c.5883-2A>G

SNV
Germline

Chr5:13830777

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359203229

rs_1580465796

1 SubmittersRCV000819877

NM_001369.3(DNAH5):c.12499+1G>A

SNV
Germline

Chr5:13718881

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359208738

rs_1579894454

1 SubmittersRCV000817359

NM_001206927.2(DNAH8):c.763-1G>A

SNV
Germline

Chr6:38737066

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA363986405

rs_1582865345

1 SubmittersRCV000813448

NM_001206927.2(DNAH8):c.1516-2A>C

SNV
Germline

Chr6:38761700

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA363986887

rs_200115379

1 SubmittersRCV000794179

NM_001206927.2(DNAH8):c.12007+1G>T

SNV
Germline

Chr6:38938989

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA137597927

rs_372080325

1 SubmittersRCV000803454

NM_001277115.2(DNAH11):c.5328+3A>G

SNV
Germline

Chr7:21659034

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA915944890

rs_1583570354

1 SubmittersRCV000821465

NM_001277115.2(DNAH11):c.7266+1G>A

SNV
Germline

Chr7:21720857

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA155088794

rs_72657354

1 SubmittersRCV000797963

NM_012472.6(DNAAF11):c.10+1G>A

SNV
Germline

Chr8:132675483

Pathogenic

Primary ciliary dyskinesia 19

Criteria Provided
Single Submitter

CA4881535

rs_767624733

1 SubmittersRCV000808662

NM_012144.4(DNAI1):c.1402-1G>A

SNV
Germline

Chr9:34512336

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373260765

rs_1587089935

1 SubmittersRCV000795563

NM_012144.4(DNAI1):c.180+2T>G

SNV
Germline

Chr9:34485242

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373242263

rs_1587067513

1 SubmittersRCV000797597

NM_012144.4(DNAI1):c.1570-1G>T

SNV
Germline

Chr9:34514393

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373262940

rs_1587091911

2 SubmittersRCV000822101

NM_018076.5(ODAD2):c.2097+1G>T

SNV
Germline

Chr10:27939896

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 23
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA5453313

rs_149368374

3 SubmittersRCV000811028 RCV002462174

NM_145045.5(ODAD3):c.1117-1G>C

SNV
Germline

Chr19:11422862

Likely pathogenic

Primary ciliary dyskinesia 30

Criteria Provided
Single Submitter

CA9212106

rs_746849797

1 SubmittersRCV000802194

NM_023036.6(DNAI2):c.184-1G>A

SNV
Germline

Chr17:74285039

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA400903575

rs_1598278059

1 SubmittersRCV000806403

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 SubmittersRCV000825717 RCV004756045 RCV001150006 RCV000861311

NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter)

SNV
Germline

Chr6:116616739

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3970702

rs_368110732

7 SubmittersRCV000825543 RCV002282387 RCV004792546

NM_023036.6(DNAI2):c.891G>A (p.Met297Ile)

SNV
Germline

Chr17:74301072

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8745539

rs_750750518

3 SubmittersRCV000825752 RCV002372368

NM_001277115.2(DNAH11):c.10176C>T (p.Arg3392=)

SNV
Germline

Chr7:21807893

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182278

rs_370857029

3 SubmittersRCV000827585 RCV002062217

NM_153614.4(DNAJB13):c.757G>A (p.Asp253Asn)

SNV
Germline

Chr11:73969282

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 34
Condition: not provided
DNAJB13-related disorder

Criteria Provided
Conflicting Classifications

CA6180886

rs_140556652

4 SubmittersRCV000853219 RCV000972297 RCV003955562

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_001369.3(DNAH5):c.12105G>A (p.Thr4035=)

SNV
Germline

Chr5:13721174

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3201737

rs_199735129

4 SubmittersRCV000860546 RCV001155366

NM_001369.3(DNAH5):c.10194C>T (p.Arg3398=)

SNV
Germline

Chr5:13762809

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202313

rs_371663826

3 SubmittersRCV000862440 RCV001153066

NM_001369.3(DNAH5):c.8960A>T (p.Asn2987Ile)

SNV
Germline

Chr5:13777347

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202647

rs_149489069

4 SubmittersRCV000862485 RCV001153166

NM_001369.3(DNAH5):c.7525C>T (p.Arg2509Cys)

SNV
Germline

Chr5:13810143

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA3203078

rs_531393117

5 SubmittersRCV000861789 RCV001155876 RCV003948061

NM_001369.3(DNAH5):c.2047C>T (p.Arg683Trp)

SNV
Germline

Chr5:13901257

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3204695

rs_182512638

3 SubmittersRCV000862925 RCV001151162 RCV004792558

NM_001369.3(DNAH5):c.1752T>C (p.Gly584=)

SNV
Germline

Chr5:13901552

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3204745

rs_201028861

4 SubmittersRCV000862450 RCV001154230

NM_001010892.3(RSPH4A):c.1377G>A (p.Lys459=)

SNV
Germline

Chr6:116628084

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 11
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3970935

rs_563352149

3 SubmittersRCV001154590 RCV001412513

NM_001206927.2(DNAH8):c.737C>T (p.Ala246Val)

SNV
Germline

Chr6:38734600

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
DNAH8-related disorder

Criteria Provided
Conflicting Classifications

CA3788028

rs_146560083

3 SubmittersRCV000863208 RCV004029331 RCV003938239

NM_001206927.2(DNAH8):c.7346G>T (p.Arg2449Leu)

SNV
Germline

Chr6:38873014

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3789898

rs_149449115

3 SubmittersRCV004027615 RCV002064484 RCV004707427

NM_001277115.2(DNAH11):c.727A>G (p.Ile243Val)

SNV
Germline

Chr7:21559637

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4178769

rs_189000268

4 SubmittersRCV000863618 RCV001162865

NM_001277115.2(DNAH11):c.5761G>A (p.Glu1921Lys)

SNV
Germline

Chr7:21687238

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
DNAH11-related disorder
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4180536

rs_199613080

4 SubmittersRCV000860652 RCV002286793 RCV004540146 RCV001836913

NM_001277115.2(DNAH11):c.8247A>G (p.Lys2749=)

SNV
Germline

Chr7:21744530

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4181519

rs_367806628

4 SubmittersRCV000860649 RCV001164083 RCV003437443

NM_012144.4(DNAI1):c.551A>G (p.Lys184Arg)

SNV
Germline

Chr9:34490418

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Kartagener syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5034102

rs_146203427

5 SubmittersRCV000860822 RCV001165754 RCV004792556

NM_012144.4(DNAI1):c.2064G>A (p.Leu688=)

SNV
Germline

Chr9:34520720

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Kartagener syndrome

Criteria Provided
Conflicting Classifications

CA5034619

rs_750785483

4 SubmittersRCV000864112 RCV001165833

NM_018139.3(DNAAF2):c.2281A>G (p.Thr761Ala)

SNV
Germline

Chr14:49625775

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA7172730

rs_148936584

2 SubmittersRCV000863770 RCV001491315

NM_178452.6(DNAAF1):c.684G>A (p.Ser228=)

SNV
Germline

Chr16:84155692

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 13
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA285505706

rs_200109125

2 SubmittersRCV001120460 RCV002538919

NM_017950.4(CCDC40):c.1057G>A (p.Ala353Thr)

SNV
Germline

Chr17:80050181

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8813669

rs_202123909

3 SubmittersRCV000863131 RCV001462521

NM_017950.4(CCDC40):c.2229G>C (p.Glu743Asp)

SNV
Germline

Chr17:80084982

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 15

Criteria Provided
Conflicting Classifications

CA8814136

rs_377219039

3 SubmittersRCV000862632 RCV001122217

NM_001364171.2(ODAD1):c.2056G>A (p.Val686Ile)

SNV
Germline

Chr19:48297044

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9548487

rs_144128773

3 SubmittersRCV000862271 RCV003226986

NM_001256715.2(DNAAF3):c.1255C>T (p.Arg419Trp)

SNV
Germline

Chr19:55159433

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9667815

rs_201929981

3 SubmittersRCV000860864 RCV004720020

NM_001369.3(DNAH5):c.7752+3A>G

SNV
Germline

Chr5:13809041

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3203017

rs_200385399

3 SubmittersRCV000860730 RCV001155874

NM_001277115.2(DNAH11):c.7811+4A>T

SNV
Germline

Chr7:21738870

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 7
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA4181352

rs_374167556

5 SubmittersRCV000860531 RCV001759643 RCV002227222 RCV004538171

NM_178452.6(DNAAF1):c.2065+5G>A

SNV
Germline

Chr16:84176304

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 13
DNAAF1-related disorder

Criteria Provided
Conflicting Classifications

CA8203098

rs_774606576

3 SubmittersRCV000862548 RCV001118706 RCV003908178

NM_001034853.2(RPGR):c.1414+5C>T

SNV
Germline

ChrX:38297279

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10385484

rs_367627674

3 SubmittersRCV000862174 RCV002464341

NM_145038.5(DRC1):c.1519A>C (p.Ile507Leu)

SNV
Germline

Chr2:26450005

Conflicting classifications of pathogenicity

Inborn genetic diseases
Primary ciliary dyskinesia
DRC1-related disorder

Criteria Provided
Conflicting Classifications

CA1562303

rs_188055173

3 SubmittersRCV002538957 RCV001474071 RCV003975405

NM_145038.5(DRC1):c.1957C>T (p.Arg653Cys)

SNV
Germline

Chr2:26454684

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1562461

rs_139106371

3 SubmittersRCV000868353 RCV004711328 RCV005328418

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_001369.3(DNAH5):c.11826A>G (p.Thr3942=)

SNV
Germline

Chr5:13729496

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3201828

rs_140220517

3 SubmittersRCV000865664 RCV001152950

NM_001369.3(DNAH5):c.11376C>T (p.Ala3792=)

SNV
Germline

Chr5:13737331

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3201988

rs_755149967

3 SubmittersRCV000866917 RCV001155594

NM_001369.3(DNAH5):c.9781A>G (p.Lys3261Glu)

SNV
Germline

Chr5:13769076

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3202427

rs_146215039

3 SubmittersRCV000866370 RCV001157363 RCV001569850

NM_001369.3(DNAH5):c.9751G>T (p.Ala3251Ser)

SNV
Germline

Chr5:13769106

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202432

rs_139293893

4 SubmittersRCV000866385 RCV003485653

NM_001369.3(DNAH5):c.9549G>A (p.Gln3183=)

SNV
Germline

Chr5:13770805

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA3202522

rs_147865593

5 SubmittersRCV000865250 RCV001151913 RCV003955626

NM_001369.3(DNAH5):c.4525G>A (p.Val1509Met)

SNV
Germline

Chr5:13864468

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA3203962

rs_140345677

6 SubmittersRCV000864428 RCV001156311 RCV002290485 RCV004742662

NM_001369.3(DNAH5):c.4071C>T (p.Ser1357=)

SNV
Germline

Chr5:13866265

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3204087

rs_201264488

3 SubmittersRCV000864552 RCV001158090

NM_001369.3(DNAH5):c.1335C>T (p.Cys445=)

SNV
Germline

Chr5:13913944

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3204872

rs_192739957

2 SubmittersRCV000865981 RCV001156732

NM_001369.3(DNAH5):c.1126G>T (p.Ala376Ser)

SNV
Germline

Chr5:13916419

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA3204948

rs_201469505

5 SubmittersRCV000865226 RCV001151285 RCV003928373

NM_001010892.3(RSPH4A):c.307G>T (p.Asp103Tyr)

SNV
Germline

Chr6:116616930

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3970741

rs_139745647

3 SubmittersRCV000866349 RCV001731957

NM_001277115.2(DNAH11):c.3786A>G (p.Arg1262=)

SNV
Germline

Chr7:21606667

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179766

rs_756045492

2 SubmittersRCV001163290 RCV002064528

NM_001277115.2(DNAH11):c.6018G>A (p.Pro2006=)

SNV
Germline

Chr7:21690858

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4180640

rs_368842512

3 SubmittersRCV000864689 RCV003145214

NM_001277115.2(DNAH11):c.10953C>T (p.Asp3651=)

SNV
Germline

Chr7:21852523

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4182561

rs_766635238

3 SubmittersRCV000865880 RCV001164406

NM_001277115.2(DNAH11):c.12712C>A (p.Leu4238Ile)

SNV
Germline

Chr7:21892629

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4183155

rs_761368563

2 SubmittersRCV000865066

NM_023036.6(DNAI2):c.123C>T (p.Phe41=)

SNV
Germline

Chr17:74281940

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 9
DNAI2-related disorder

Criteria Provided
Conflicting Classifications

CA8745251

rs_542439989

5 SubmittersRCV000865271 RCV001127058 RCV003948100

NM_023036.6(DNAI2):c.1683G>A (p.Lys561=)

SNV
Germline

Chr17:74312191

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 9

Criteria Provided
Conflicting Classifications

CA8745863

rs_767757416

2 SubmittersRCV000870835 RCV001126879

NM_023036.6(DNAI2):c.1776G>A (p.Ala592=)

SNV
Germline

Chr17:74314174

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 9

Criteria Provided
Conflicting Classifications

CA8745920

rs_200861036

4 SubmittersRCV000864501 RCV001126881

NM_017950.4(CCDC40):c.1201C>G (p.Leu401Val)

SNV
Germline

Chr17:80058535

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8813735

rs_201126001

3 SubmittersRCV000866772 RCV001333980 RCV004777908

NM_001369.3(DNAH5):c.5272-9C>T

SNV
Germline

Chr5:13841913

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203717

rs_555481241

3 SubmittersRCV001152319 RCV001280313

NM_001369.3(DNAH5):c.3397-8G>T

SNV
Germline

Chr5:13871773

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3204279

rs_200694593

2 SubmittersRCV000868160 RCV001156532

NM_001369.3(DNAH5):c.11016G>T (p.Gly3672=)

SNV
Germline

Chr5:13752146

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA443248589

rs_1580060938

2 SubmittersRCV000875205 RCV001157269

NM_001369.3(DNAH5):c.5817G>A (p.Ala1939=)

SNV
Germline

Chr5:13839421

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3203568

rs_556936569

3 SubmittersRCV000875222 RCV001157798

NM_001369.3(DNAH5):c.2235C>T (p.Tyr745=)

SNV
Germline

Chr5:13900230

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3204639

rs_139916610

3 SubmittersRCV000874476 RCV001156630

NM_031924.8(RSPH3):c.157A>G (p.Arg53Gly)

SNV
Germline

Chr6:158993886

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 32
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4075979

rs_200757145

3 SubmittersRCV001485105 RCV003432864 RCV004027914

NM_018139.3(DNAAF2):c.411C>A (p.Ser137Arg)

SNV
Germline

Chr14:49634739

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 10
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA7173115

rs_541232616

3 SubmittersRCV001112303 RCV003768719

NM_023036.6(DNAI2):c.1194G>A (p.Ser398=)

SNV
Germline

Chr17:74305425

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 9

Criteria Provided
Conflicting Classifications

CA8745632

rs_556547267

3 SubmittersRCV000872695 RCV001127178

NM_003611.3(OFD1):c.569G>A (p.Arg190His)

SNV
Germline

ChrX:13746370

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351646

rs_150560046

2 SubmittersRCV001520548 RCV004027844

NM_001369.3(DNAH5):c.7888-4A>G

SNV
Germline

Chr5:13794062

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3202962

rs_775268409

5 SubmittersRCV000871656 RCV001703242

NM_001369.3(DNAH5):c.12123A>C (p.Pro4041=)

SNV
Germline

Chr5:13721156

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3201731

rs_149580135

3 SubmittersRCV000951988 RCV001154534

NM_001369.3(DNAH5):c.9975C>T (p.Cys3325=)

SNV
Germline

Chr5:13766102

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202363

rs_771715883

4 SubmittersRCV000946138 RCV001155681

NM_012472.6(DNAAF11):c.232A>G (p.Ile78Val)

SNV
Germline

Chr8:132656854

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 19
Primary ciliary dyskinesia
DNAAF11-related disorder

Criteria Provided
Conflicting Classifications

CA4881436

rs_146175329

4 SubmittersRCV001332967 RCV004029883 RCV004749566

NM_012472.6(DNAAF11):c.31C>T (p.Arg11Trp)

SNV
Germline

Chr8:132661607

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 19
Condition: not provided
DNAAF11-related disorder
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4881488

rs_115536785

5 SubmittersRCV000951798 RCV003128730 RCV004749561 RCV002462234

NM_031924.8(RSPH3):c.208G>A (p.Gly70Arg)

SNV
Germline

Chr6:158986418

Conflicting classifications of pathogenicity

Inborn genetic diseases
RSPH3-related disorder
Primary ciliary dyskinesia 32

Criteria Provided
Conflicting Classifications

CA4075950

rs_199716916

3 SubmittersRCV002548346 RCV003928490 RCV002066418

NM_001369.3(DNAH5):c.8016G>A (p.Thr2672=)

SNV
Germline

Chr5:13793723

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA113962050

rs_112594597

2 SubmittersRCV000897614 RCV001152009

NM_012144.4(DNAI1):c.501+10A>C

SNV
Germline

Chr9:34490134

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Kartagener syndrome

Criteria Provided
Conflicting Classifications

CA5034068

rs_765805502

2 SubmittersRCV000924160 RCV001169738

NM_023036.6(DNAI2):c.39G>A (p.Glu13=)

SNV
Germline

Chr17:74281856

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 9

Criteria Provided
Conflicting Classifications

CA8745230

rs_533814143

3 SubmittersRCV000942587 RCV001126667

NM_021147.5(CCNO):c.206A>G (p.Asp69Gly)

SNV
Germline

Chr5:55233318

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3266839

rs_372247606

2 SubmittersRCV000983847 RCV002549609

NM_031924.8(RSPH3):c.992A>G (p.His331Arg)

SNV
Germline

Chr6:158977803

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 32
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4075743

rs_78116655

3 SubmittersRCV001406872 RCV004030091

NM_001277115.2(DNAH11):c.1655G>T (p.Gly552Val)

SNV
Germline

Chr7:21581966

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179055

rs_187510989

2 SubmittersRCV000981743

NM_018139.3(DNAAF2):c.2428C>T (p.Gln810Ter)

SNV
Germline

Chr14:49625628

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 10
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA7172702

rs_747290752

2 SubmittersRCV000989215 RCV001858703

NM_001034853.2(RPGR):c.749G>A (p.Cys250Tyr)

SNV
Germline

ChrX:38310644

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412742575

rs_1601961064

2 SubmittersRCV000990777 RCV002549752

NM_001034853.2(RPGR):c.194G>A (p.Gly65Asp)

SNV
Germline

ChrX:38322906

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA412745614

rs_1601982532

2 SubmittersRCV001387577 RCV000990782

NM_001277115.2(DNAH11):c.7267-1G>T

SNV
Germline

Chr7:21725810

Likely pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA366945464

rs_759302236

2 SubmittersRCV000991380

NM_001277115.2(DNAH11):c.6895G>T (p.Glu2299Ter)

SNV
Germline

Chr7:21711772

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA366941451

rs_1156473739

2 SubmittersRCV000998773 RCV005253673

NM_001277115.2(DNAH11):c.5695A>G (p.Lys1899Glu)

SNV
Germline

Chr7:21687172

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA366949354

rs_1190944498

6 SubmittersRCV001229823 RCV000995535 RCV001545154

NM_001034853.2(RPGR):c.2173C>T (p.Gln725Ter)

SNV
Germline

ChrX:38286826

Pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412731273

rs_907856232

3 SubmittersRCV001003198 RCV003329357 RCV002549203

NM_001034853.2(RPGR):c.592G>A (p.Gly198Arg)

SNV
Germline

ChrX:38317343

Pathogenic

Retinitis pigmentosa
Primary ciliary dyskinesia
Retinitis pigmentosa 3

Criteria Provided
Single Submitter

CA412744489

rs_1601972255

3 SubmittersRCV001003204 RCV002549204 RCV001251549

NM_001034853.2(RPGR):c.1572+1G>A

SNV
Germline

ChrX:38290958

Pathogenic

Retinitis pigmentosa
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412737551

rs_1601931052

2 SubmittersRCV001003199 RCV002551700

NM_018076.5(ODAD2):c.2765G>A (p.Gly922Glu)

SNV
Germline

Chr10:27862468

Likely pathogenic

Primary ciliary dyskinesia
Male infertility

No Assertion Criteria Provided

CA376492464

rs_1564439559

1 SubmittersRCV001003514

NM_018076.5(ODAD2):c.2097+1G>A

SNV
Germline

Chr10:27939896

Pathogenic

Primary ciliary dyskinesia
Male infertility
Primary ciliary dyskinesia 23

Criteria Provided
Single Submitter

CA376392060

rs_149368374

2 SubmittersRCV001003515 RCV005093035

NM_145038.5(DRC1):c.39C>A (p.Asn13Lys)

SNV
Germline

Chr2:26402028

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1561722

rs_757114521

2 SubmittersRCV001056030 RCV005328500

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
Condition: not provided
Primary ciliary dyskinesia 14

Criteria Provided
Conflicting Classifications

CA2716280

rs_758493174

4 SubmittersRCV001036193 RCV004768796 RCV002489541

NM_001369.3(DNAH5):c.13285C>T (p.Arg4429Ter)

SNV
Germline

Chr5:13708176

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA359196686

rs_1743041017

3 SubmittersRCV001062192 RCV005036364

NM_001369.3(DNAH5):c.12779A>T (p.Asp4260Val)

SNV
Germline

Chr5:13716617

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359204168

rs_1744309029

2 SubmittersRCV001061194

NM_001369.3(DNAH5):c.12596G>A (p.Arg4199His)

SNV
Germline

Chr5:13717424

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA113919237

rs_375694023

3 SubmittersRCV001045457 RCV001155177 RCV004812377

NM_001369.3(DNAH5):c.12287G>A (p.Trp4096Ter)

SNV
Germline

Chr5:13719094

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359211726

rs_1744699899

1 SubmittersRCV001041285

NM_001369.3(DNAH5):c.11512G>A (p.Glu3838Lys)

SNV
Germline

Chr5:13735876

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201936

rs_190450522

3 SubmittersRCV001038084

NM_001369.3(DNAH5):c.11438G>A (p.Arg3813Gln)

SNV
Germline

Chr5:13737269

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201980

rs_143612682

3 SubmittersRCV001046804

NM_001369.3(DNAH5):c.10930G>T (p.Gly3644Ter)

SNV
Germline

Chr5:13752232

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359190253

rs_1750339039

1 SubmittersRCV001047561

NM_001369.3(DNAH5):c.10658G>A (p.Arg3553Gln)

SNV
Germline

Chr5:13753447

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3202158

rs_144393366

4 SubmittersRCV001047486 RCV002481936 RCV004597953

NM_001369.3(DNAH5):c.10378G>A (p.Val3460Met)

SNV
Germline

Chr5:13758887

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202260

rs_200012281

3 SubmittersRCV001046571

NM_001369.3(DNAH5):c.9907C>A (p.Pro3303Thr)

SNV
Germline

Chr5:13766170

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202383

rs_770166503

3 SubmittersRCV001064812 RCV003145326

NM_001369.3(DNAH5):c.9346C>T (p.Arg3116Ter)

SNV
Germline

Chr5:13776466

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA359207968

rs_1264701182

2 SubmittersRCV001067712 RCV005036378

NM_001369.3(DNAH5):c.8497C>T (p.Arg2833Cys)

SNV
Germline

Chr5:13788866

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3202797

rs_766481283

3 SubmittersRCV001064655 RCV001759831

NM_001369.3(DNAH5):c.6682A>T (p.Arg2228Ter)

SNV
Germline

Chr5:13823268

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359195511

rs_1762460445

1 SubmittersRCV001041058

NM_001369.3(DNAH5):c.5692G>A (p.Asp1898Asn)

SNV
Germline

Chr5:13840923

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203606

rs_149834171

3 SubmittersRCV001057080

NM_001369.3(DNAH5):c.4880C>T (p.Thr1627Met)

SNV
Germline

Chr5:13859522

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203853

rs_745381842

3 SubmittersRCV001068187

NM_001369.3(DNAH5):c.4360C>T (p.Arg1454Ter)

SNV
Germline

Chr5:13864633

Pathogenic

Primary ciliary dyskinesia
DNAH5-related disorder
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA3203994

rs_148139814

4 SubmittersRCV001058415 RCV003405268 RCV003230628

NM_001369.3(DNAH5):c.3760C>T (p.Arg1254Trp)

SNV
Germline

Chr5:13870841

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204181

rs_749162833

3 SubmittersRCV001058180

NM_001369.3(DNAH5):c.3484C>T (p.Gln1162Ter)

SNV
Germline

Chr5:13871678

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA3204249

rs_760081822

3 SubmittersRCV001057512 RCV001542575

NM_001369.3(DNAH5):c.2734G>T (p.Glu912Ter)

SNV
Germline

Chr5:13885973

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359196053

rs_1772369775

1 SubmittersRCV001058985

NM_001369.3(DNAH5):c.1810T>C (p.Ser604Pro)

SNV
Germline

Chr5:13901494

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3204739

rs_769275003

4 SubmittersRCV001064396 RCV004761918

NM_001369.3(DNAH5):c.1648G>A (p.Glu550Lys)

SNV
Germline

Chr5:13902135

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3204771

rs_145962029

3 SubmittersRCV001069124 RCV005432568

NM_001369.3(DNAH5):c.1054G>T (p.Glu352Ter)

SNV
Germline

Chr5:13917178

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3204980

rs_189080233

1 SubmittersRCV001061349

NM_001190787.3(MCIDAS):c.1004T>A (p.Leu335Ter)

SNV
Germline

Chr5:55220520

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA359730806

rs_1291689114

2 SubmittersRCV001044059

NM_001010892.3(RSPH4A):c.296C>T (p.Pro99Leu)

SNV
Germline

Chr6:116616919

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA365391550

rs_1775514576

2 SubmittersRCV001058610

NM_001010892.3(RSPH4A):c.1082G>T (p.Gly361Val)

SNV
Germline

Chr6:116627789

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3970894

rs_757303224

1 SubmittersRCV001040129

NM_001206927.2(DNAH8):c.3787G>T (p.Glu1263Ter)

SNV
Germline

Chr6:38823628

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA363992842

rs_1416631904

1 SubmittersRCV001046662

NM_001277115.2(DNAH11):c.1232G>A (p.Gly411Glu)

SNV
Germline

Chr7:21570106

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4178940

rs_552249954

4 SubmittersRCV001035660 RCV004726806 RCV003145258

NM_001277115.2(DNAH11):c.1358G>A (p.Trp453Ter)

SNV
Germline

Chr7:21570232

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366935039

rs_749372718

1 SubmittersRCV001040125

NM_001277115.2(DNAH11):c.1452T>G (p.Phe484Leu)

SNV
Germline

Chr7:21571832

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA4178991

rs_755256285

2 SubmittersRCV001039913 RCV005236549

NM_001277115.2(DNAH11):c.2569C>T (p.Arg857Ter)

SNV
Germline

Chr7:21591479

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA4179373

rs_72655998

2 SubmittersRCV001048502 RCV005235509

NM_001277115.2(DNAH11):c.2887A>G (p.Arg963Gly)

SNV
Germline

Chr7:21600006

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4179458

rs_185803317

3 SubmittersRCV001054553 RCV005409765

NM_001277115.2(DNAH11):c.3040C>G (p.Gln1014Glu)

SNV
Germline

Chr7:21600715

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179518

rs_375314297

2 SubmittersRCV001059096

NM_001277115.2(DNAH11):c.3220G>A (p.Glu1074Lys)

SNV
Germline

Chr7:21600895

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4179555

rs_765778415

2 SubmittersRCV001044431 RCV001165271

NM_001277115.2(DNAH11):c.3220G>T (p.Glu1074Ter)

SNV
Germline

Chr7:21600895

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366945367

rs_765778415

1 SubmittersRCV001038732

NM_001277115.2(DNAH11):c.3751T>G (p.Cys1251Gly)

SNV
Germline

Chr7:21606528

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4179728

rs_765674180

2 SubmittersRCV001035677 RCV005432533

NM_001277115.2(DNAH11):c.5591C>G (p.Pro1864Arg)

SNV
Germline

Chr7:21683914

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180473

rs_367858452

2 SubmittersRCV001036422

NM_001277115.2(DNAH11):c.6190G>A (p.Asp2064Asn)

SNV
Germline

Chr7:21702719

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180725

rs_756809691

2 SubmittersRCV001041677

NM_001277115.2(DNAH11):c.6916G>A (p.Ala2306Thr)

SNV
Germline

Chr7:21711793

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181041

rs_200223750

2 SubmittersRCV001065147

NM_001277115.2(DNAH11):c.8059A>G (p.Ile2687Val)

SNV
Germline

Chr7:21742071

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA155115836

rs_777290108

3 SubmittersRCV001042594 RCV001772232

NM_001277115.2(DNAH11):c.8230C>T (p.Arg2744Cys)

SNV
Germline

Chr7:21744513

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4181513

rs_374826188

5 SubmittersRCV001034901 RCV001164082 RCV004820141

NM_001277115.2(DNAH11):c.8336T>C (p.Leu2779Pro)

SNV
Germline

Chr7:21744889

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181575

rs_770508431

2 SubmittersRCV001040225

NM_001277115.2(DNAH11):c.8699G>A (p.Arg2900Gln)

SNV
Germline

Chr7:21749703

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4181698

rs_534013804

3 SubmittersRCV001041208 RCV005036317

NM_001277115.2(DNAH11):c.8878A>G (p.Met2960Val)

SNV
Germline

Chr7:21750302

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181767

rs_766857244

2 SubmittersRCV001066809

NM_001277115.2(DNAH11):c.9121A>G (p.Ile3041Val)

SNV
Germline

Chr7:21773784

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181887

rs_755550337

2 SubmittersRCV001053465

NM_001277115.2(DNAH11):c.9818A>C (p.Glu3273Ala)

SNV
Germline

Chr7:21787477

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4182122

rs_753829743

3 SubmittersRCV001065104 RCV003314667

NM_001277115.2(DNAH11):c.11398G>C (p.Asp3800His)

SNV
Germline

Chr7:21864559

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4182737

rs_553943791

2 SubmittersRCV001054508 RCV002489636

NM_001277115.2(DNAH11):c.11458G>A (p.Val3820Ile)

SNV
Germline

Chr7:21864619

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4182754

rs_777011433

3 SubmittersRCV001054552 RCV001759995

NM_001277115.2(DNAH11):c.12697C>T (p.Gln4233Ter)

SNV
Germline

Chr7:21892614

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4183149

rs_72658823

3 SubmittersRCV001038487 RCV005056810 RCV004792644

NM_001277115.2(DNAH11):c.13008G>A (p.Trp4336Ter)

SNV
Germline

Chr7:21894958

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366954936

rs_1162823375

1 SubmittersRCV001045513

NM_001277115.2(DNAH11):c.13306G>A (p.Ala4436Thr)

SNV
Germline

Chr7:21901009

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA4183449

rs_370565524

1 SubmittersRCV001058223

NM_017802.4(DNAAF5):c.208C>T (p.Gln70Ter)

SNV
Germline

Chr7:726928

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA4110354

rs_746849639

1 SubmittersRCV001046529

NM_003114.5(SPAG1):c.1193G>A (p.Arg398Gln)

SNV
Germline

Chr8:100213186

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 28
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4827468

rs_772098225

2 SubmittersRCV001053211 RCV004031675

NM_012472.6(DNAAF11):c.538C>T (p.Arg180Ter)

SNV
Germline

Chr8:132632855

Pathogenic

Primary ciliary dyskinesia 19

Criteria Provided
Single Submitter

CA186274930

rs_979934112

1 SubmittersRCV001035550

NM_012472.6(DNAAF11):c.32G>A (p.Arg11Gln)

SNV
Germline

Chr8:132661606

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 19
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4881486

rs_149894438

3 SubmittersRCV001048785 RCV002462284

NM_023036.6(DNAI2):c.421G>T (p.Glu141Ter)

SNV
Germline

Chr17:74287052

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 9

Criteria Provided
Multiple Submitters
No Conflicts

CA8745354

rs_772133192

2 SubmittersRCV001056487 RCV005029629

NM_023036.6(DNAI2):c.433G>T (p.Glu145Ter)

SNV
Germline

Chr17:74287064

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA400904866

rs_2051792816

1 SubmittersRCV001056656

NM_023036.6(DNAI2):c.1244G>A (p.Trp415Ter)

SNV
Germline

Chr17:74309285

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA400911736

rs_2053367000

1 SubmittersRCV001057264

NM_017950.4(CCDC40):c.2597A>G (p.Asn866Ser)

SNV
Germline

Chr17:80087754

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA401349125

rs_2038617610

1 SubmittersRCV001068100

NM_001364171.2(ODAD1):c.1313G>A (p.Ser438Asn)

SNV
Germline

Chr19:48298268

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA9548742

rs_201757586

2 SubmittersRCV001059329

NM_080860.4(RSPH1):c.847C>T (p.Gln283Ter)

SNV
Germline

Chr21:42475928

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 24

Criteria Provided
Conflicting Classifications

CA410362003

rs_2054042523

2 SubmittersRCV001057163 RCV001329606

NM_001034853.2(RPGR):c.442G>A (p.Gly148Arg)

SNV
Germline

ChrX:38318856

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412745042

rs_2067876063

1 SubmittersRCV001070967

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_012472.6(DNAAF11):c.1226+1G>A

SNV
Germline

Chr8:132583693

Pathogenic

Primary ciliary dyskinesia 19

Criteria Provided
Single Submitter

CA372292114

rs_1815572053

1 SubmittersRCV001066754

NM_012144.4(DNAI1):c.1063+1G>T

SNV
Germline

Chr9:34501182

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373254156

rs_1268770869

1 SubmittersRCV001067358

NM_001277115.2(DNAH11):c.6181-1G>A

SNV
Germline

Chr7:21702709

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366936122

rs_1360420006

1 SubmittersRCV001058458

NM_001369.3(DNAH5):c.2744-1G>T

SNV
Germline

Chr5:13885229

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359195926

rs_1772232595

1 SubmittersRCV001058417

NM_001277115.2(DNAH11):c.3426-1G>A

SNV
Germline

Chr7:21601395

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA4179638

rs_774855011

4 SubmittersRCV001058221 RCV003985835

NM_017950.4(CCDC40):c.940-1G>C

SNV
Germline

Chr17:80050063

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA401354957

rs_2037540861

3 SubmittersRCV001056046 RCV004697036

NM_001206927.2(DNAH8):c.2664+2T>C

SNV
Germline

Chr6:38789885

Likely pathogenic

Primary ciliary dyskinesia
Spermatogenic failure 46

Criteria Provided
Multiple Submitters
No Conflicts

CA3788573

rs_753831132

2 SubmittersRCV001048431 RCV005400485

NM_145045.5(ODAD3):c.244+1G>T

SNV
Germline

Chr19:11434772

Likely pathogenic

Primary ciliary dyskinesia 30

Criteria Provided
Single Submitter

CA305341142

rs_937290981

1 SubmittersRCV001064961

NM_001277115.2(DNAH11):c.3765+1G>A

SNV
Germline

Chr7:21606543

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA155091284

rs_766759197

1 SubmittersRCV001059147

NM_001034853.2(RPGR):c.3109G>T (p.Glu1037Ter)

SNV
Germline

ChrX:38285890

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412728993

rs_866524368

2 SubmittersRCV001074990 RCV001251570 RCV003650599

NM_001034853.2(RPGR):c.2917G>T (p.Glu973Ter)

SNV
Germline

ChrX:38286082

Pathogenic

Macular degeneration, X-linked atrophic
Retinal dystrophy
Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412729458

rs_2067140471

3 SubmittersRCV000010591 RCV001073899 RCV001251534 RCV002554689

NM_001034853.2(RPGR):c.2695G>T (p.Glu899Ter)

SNV
Germline

ChrX:38286304

Pathogenic/Likely pathogenic

Retinal dystrophy
Primary ciliary dyskinesia
Retinitis pigmentosa 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412730005

rs_2067161139

3 SubmittersRCV001074199 RCV002554703 RCV001251621 RCV002464375

NM_001034853.2(RPGR):c.2665G>T (p.Glu889Ter)

SNV
Germline

ChrX:38286334

Pathogenic

Retinal dystrophy
Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412730085

rs_2067163605

3 SubmittersRCV001073958 RCV001251620 RCV002554691

NM_001034853.2(RPGR):c.2479G>T (p.Glu827Ter)

SNV
Germline

ChrX:38286520

Conflicting classifications of pathogenicity

Retinal dystrophy
Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA412730546

rs_2067179538

2 SubmittersRCV001075387 RCV001251606 RCV003650600

NM_001034853.2(RPGR):c.2419G>T (p.Glu807Ter)

SNV
Germline

ChrX:38286580

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412730684

rs_2067182354

2 SubmittersRCV001075737 RCV001251602 RCV002555916

NM_001034853.2(RPGR):c.2377C>T (p.Gln793Ter)

SNV
Germline

ChrX:38286622

Pathogenic

Retinal dystrophy
Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412730783

rs_2067184023

2 SubmittersRCV001074219 RCV001251596 RCV003537469

NM_001034853.2(RPGR):c.2146G>T (p.Glu716Ter)

SNV
Germline

ChrX:38286853

Pathogenic

Retinal dystrophy
Retinitis pigmentosa 3
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412731339

rs_2067191335

3 SubmittersRCV001075438 RCV001251580 RCV003537471 RCV002464380

NM_001034853.2(RPGR):c.2106G>A (p.Trp702Ter)

SNV
Germline

ChrX:38286893

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412731439

rs_2067193056

3 SubmittersRCV001073828 RCV001251565 RCV002554681

NM_001034853.2(RPGR):c.2059G>T (p.Glu687Ter)

SNV
Germline

ChrX:38286940

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412731549

rs_2067194648

2 SubmittersRCV001074138 RCV001251563 RCV002554699

NM_001034853.2(RPGR):c.1345C>T (p.Arg449Ter)

SNV
Germline

ChrX:38297353

Pathogenic

Retinal dystrophy
Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412739485

rs_2067406342

4 SubmittersRCV001074651 RCV002464377 RCV002554731

NM_001034853.2(RPGR):c.1126G>T (p.Glu376Ter)

SNV
Germline

ChrX:38299075

Pathogenic/Likely pathogenic

Retinal dystrophy
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412739955

rs_2067451355

2 SubmittersRCV001075575 RCV002554761

NM_001034853.2(RPGR):c.823G>C (p.Gly275Arg)

SNV
Germline

ChrX:38304746

Pathogenic/Likely pathogenic

Retinal dystrophy
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412741596

rs_62642057

2 SubmittersRCV001074807 RCV003537470

NM_001034853.2(RPGR):c.679C>T (p.Gln227Ter)

SNV
Germline

ChrX:38310714

Pathogenic

Retinal dystrophy
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412742873

rs_2067700774

2 SubmittersRCV001074818 RCV005093410

NM_001034853.2(RPGR):c.493G>C (p.Gly165Arg)

SNV
Germline

ChrX:38317442

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA412744919

rs_2067847091

3 SubmittersRCV001074182 RCV003128259 RCV003537468

NM_001034853.2(RPGR):c.335G>A (p.Gly112Asp)

SNV
Germline

ChrX:38318963

Pathogenic/Likely pathogenic

Retinal dystrophy
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412745285

rs_2067878321

2 SubmittersRCV001073580 RCV003117738

NM_001034853.2(RPGR):c.1754-9G>A

SNV
Germline

ChrX:38287254

Conflicting classifications of pathogenicity

Retinal dystrophy
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10385333

rs_762495217

2 SubmittersRCV001075601 RCV001862624

NM_001034853.2(RPGR):c.247+5G>A

SNV
Germline

ChrX:38322848

Conflicting classifications of pathogenicity

Retinal dystrophy
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA916083926

rs_2067974156

3 SubmittersRCV001073448 RCV003650597

NM_001369.3(DNAH5):c.12973C>T (p.Gln4325Ter)

SNV
Germline

Chr5:13714557

Pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359202079

rs_1273109738

1 SubmittersRCV001078446

NM_001369.3(DNAH5):c.8396G>A (p.Arg2799Gln)

SNV
Germline

Chr5:13792046

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA359219019

rs_1182948401

3 SubmittersRCV001078455 RCV002436699

NM_001369.3(DNAH5):c.4643T>C (p.Leu1548Pro)

SNV
Germline

Chr5:13862701

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359222305

rs_1768634470

1 SubmittersRCV001078445

NM_001277115.2(DNAH11):c.785C>G (p.Ser262Ter)

SNV
Germline

Chr7:21559695

Pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

CA366932888

rs_1298746949

1 SubmittersRCV001078448

NM_001277115.2(DNAH11):c.9523G>T (p.Glu3175Ter)

SNV
Germline

Chr7:21784466

Pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

CA366939153

rs_1788086604

1 SubmittersRCV001078459

NM_001277115.2(DNAH11):c.10260C>G (p.Tyr3420Ter)

SNV
Germline

Chr7:21807977

Pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

CA366946295

rs_1789346276

1 SubmittersRCV001078450

NM_021254.4(CFAP298):c.721C>T (p.Gln241Ter)

SNV
Germline

Chr21:32602313

Pathogenic

Primary ciliary dyskinesia 26

Criteria Provided
Single Submitter

CA410072740

rs_2038760864

1 SubmittersRCV001078453

NM_001277115.2(DNAH11):c.11968-1G>C

SNV
Germline

Chr7:21873273

Pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA366962925

rs_1783569129

2 SubmittersRCV001078451

NM_001034853.2(RPGR):c.935-2A>G

SNV
Germline

ChrX:38301373

Pathogenic

Condition: not provided
Primary ciliary dyskinesia
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412740505

rs_2067498092

3 SubmittersRCV001092672 RCV003537474 RCV003890234

NM_001034853.2(RPGR):c.619+8A>G

SNV
Germline

ChrX:38317308

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA640872851

rs_1230328335

2 SubmittersRCV001092673 RCV002554852

NM_001277115.2(DNAH11):c.6983+1G>A

SNV
Germline

Chr7:21711861

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA4181054

rs_771953930

4 SubmittersRCV001095711 RCV003769038

NM_018139.3(DNAAF2):c.1781C>T (p.Ala594Val)

SNV
Germline

Chr14:49633369

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 10
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA7172828

rs_181040532

3 SubmittersRCV001109444 RCV003537475

NM_018139.3(DNAAF2):c.1596A>G (p.Glu532=)

SNV
Germline

Chr14:49633554

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 10

Criteria Provided
Conflicting Classifications

CA7172873

rs_374369407

2 SubmittersRCV003537476 RCV001111755

NM_018139.3(DNAAF2):c.1552G>A (p.Gly518Arg)

SNV
Germline

Chr14:49633598

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 10
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA7172889

rs_145008882

2 SubmittersRCV001111758 RCV004032167

NM_018139.3(DNAAF2):c.270G>C (p.Val90=)

SNV
Germline

Chr14:49634880

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 10

Criteria Provided
Conflicting Classifications

CA7173135

rs_767758073

3 SubmittersRCV002429759 RCV001112305

NM_178452.6(DNAAF1):c.1735T>C (p.Leu579=)

SNV
Germline

Chr16:84175969

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 13
Primary ciliary dyskinesia
DNAAF1-related disorder

Criteria Provided
Conflicting Classifications

CA8203020

rs_764511452

4 SubmittersRCV001115647 RCV001482693 RCV003945822

NM_178452.6(DNAAF1):c.1031-11T>G

SNV
Germline

Chr16:84169848

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 13
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8202743

rs_200286840

2 SubmittersRCV001115554 RCV003537477

NM_178452.6(DNAAF1):c.1528+11C>T

SNV
Germline

Chr16:84170367

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 13
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8202884

rs_375586650

2 SubmittersRCV001120557 RCV002069959

NM_178452.6(DNAAF1):c.1528+12G>A

SNV
Germline

Chr16:84170368

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 13
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8202885

rs_765784723

2 SubmittersRCV001120558 RCV002069960

NM_023036.6(DNAI2):c.1455C>G (p.Leu485=)

SNV
Germline

Chr17:74310124

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 9
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA293863615

rs_901923607

2 SubmittersRCV001123107 RCV001458247

NM_017950.4(CCDC40):c.1898G>A (p.Arg633Gln)

SNV
Germline

Chr17:80081967

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 15
Usher syndrome
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8814048

rs_759468416

4 SubmittersRCV001127969 RCV003389486 RCV003769225

NM_017950.4(CCDC40):c.2497A>G (p.Met833Val)

SNV
Germline

Chr17:80087654

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 15
Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8814227

rs_376911979

3 SubmittersRCV001124987 RCV001355801 RCV004032258

NM_017950.4(CCDC40):c.2841C>T (p.Leu947=)

SNV
Germline

Chr17:80095271

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 15
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8814528

rs_573028412

2 SubmittersRCV001128068 RCV002070491

NM_017950.4(CCDC40):c.2967C>T (p.Thr989=)

SNV
Germline

Chr17:80095397

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 15
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8814565

rs_199575834

2 SubmittersRCV001122307 RCV002556635

NM_023036.6(DNAI2):c.1348-15C>G

SNV
Germline

Chr17:74310002

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 9
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8745754

rs_755825865

2 SubmittersRCV001123104 RCV003537479

NM_017950.4(CCDC40):c.2711+11G>T

SNV
Germline

Chr17:80088113

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 15
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA627696527

rs_1434924240

2 SubmittersRCV001125961 RCV003650602

NM_017950.4(CCDC40):c.3021+13G>A

SNV
Germline

Chr17:80095464

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 15
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8814578

rs_762011731

2 SubmittersRCV001122309 RCV002069992

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 SubmittersRCV001145560 RCV002451340

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

3 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_001369.3(DNAH5):c.*84C>T

SNV
Germline

Chr5:13691900

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA113905393

rs_151143347

3 SubmittersRCV003438687 RCV001158087

NM_001369.3(DNAH5):c.13364G>A (p.Gly4455Asp)

SNV
Germline

Chr5:13701411

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3201379

rs_370684795

7 SubmittersRCV001154227 RCV001239110 RCV003153933

NM_001369.3(DNAH5):c.13255G>C (p.Asp4419His)

SNV
Germline

Chr5:13708206

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201412

rs_373749995

2 SubmittersRCV001151280 RCV002557262

NM_001369.3(DNAH5):c.12513C>A (p.Asp4171Glu)

SNV
Germline

Chr5:13717507

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201605

rs_547445590

4 SubmittersRCV001156826 RCV001239528

NM_001369.3(DNAH5):c.12217G>A (p.Val4073Met)

SNV
Germline

Chr5:13721062

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201707

rs_757109346

8 SubmittersRCV001154532 RCV001245183

NM_001369.3(DNAH5):c.11998A>T (p.Ile4000Phe)

SNV
Germline

Chr5:13727542

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA359217887

rs_1490888369

3 SubmittersRCV001151710 RCV002557272 RCV004694951

NM_001369.3(DNAH5):c.11969C>A (p.Ser3990Tyr)

SNV
Germline

Chr5:13727571

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA359218109

rs_1000624148

3 SubmittersRCV001152949 RCV002559474 RCV004694957

NM_001369.3(DNAH5):c.11616C>G (p.Ile3872Met)

SNV
Germline

Chr5:13735276

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201891

rs_773699669

3 SubmittersRCV001152951 RCV002032409

NM_001369.3(DNAH5):c.11614A>T (p.Ile3872Phe)

SNV
Germline

Chr5:13735278

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201895

rs_572139897

3 SubmittersRCV001152952 RCV002559475

NM_001369.3(DNAH5):c.10639C>T (p.Arg3547Trp)

SNV
Germline

Chr5:13753466

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202165

rs_747041428

2 SubmittersRCV001151816 RCV002559464

NM_001369.3(DNAH5):c.10470C>T (p.Ser3490=)

SNV
Germline

Chr5:13754288

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA443249982

rs_1750680564

2 SubmittersRCV001151817 RCV002070840

NM_001369.3(DNAH5):c.10451A>T (p.His3484Leu)

SNV
Germline

Chr5:13754307

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202221

rs_150532311

3 SubmittersRCV001151819 RCV002559465

NM_001369.3(DNAH5):c.10442G>A (p.Arg3481Gln)

SNV
Germline

Chr5:13754316

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3202222

rs_202169624

4 SubmittersRCV001151820 RCV002557277 RCV005255653

NM_001369.3(DNAH5):c.10377C>T (p.Asp3459=)

SNV
Germline

Chr5:13758888

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202262

rs_139317626

3 SubmittersRCV001153063 RCV001414776

NM_001369.3(DNAH5):c.10192C>T (p.Arg3398Cys)

SNV
Germline

Chr5:13762811

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202315

rs_147882360

2 SubmittersRCV001153067 RCV002559477

NM_001369.3(DNAH5):c.9995G>A (p.Arg3332Lys)

SNV
Germline

Chr5:13766082

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202358

rs_138968139

3 SubmittersRCV001155680 RCV002379660

NM_001369.3(DNAH5):c.9912G>A (p.Ser3304=)

SNV
Germline

Chr5:13766165

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202380

rs_188218914

2 SubmittersRCV001155683 RCV001485068

NM_001369.3(DNAH5):c.9705C>T (p.Asn3235=)

SNV
Germline

Chr5:13769516

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202467

rs_770064361

3 SubmittersRCV001157365 RCV001442574

NM_001369.3(DNAH5):c.9678G>A (p.Ala3226=)

SNV
Germline

Chr5:13769543

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202472

rs_547729937

3 SubmittersRCV001157367 RCV001458154

NM_001369.3(DNAH5):c.9347G>A (p.Arg3116Gln)

SNV
Germline

Chr5:13776465

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202578

rs_745557874

2 SubmittersRCV001151916 RCV001882472

NM_001369.3(DNAH5):c.8936A>G (p.Gln2979Arg)

SNV
Germline

Chr5:13780844

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202671

rs_148666497

3 SubmittersRCV001153168 RCV002070865

NM_001369.3(DNAH5):c.8836C>T (p.Arg2946Cys)

SNV
Germline

Chr5:13780944

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202697

rs_150899380

3 SubmittersRCV001153169 RCV002557297

NM_001369.3(DNAH5):c.8085C>G (p.Thr2695=)

SNV
Germline

Chr5:13793654

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202902

rs_147427207

2 SubmittersRCV001152007 RCV001489189

NM_001369.3(DNAH5):c.7881G>A (p.Met2627Ile)

SNV
Germline

Chr5:13807597

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202985

rs_369279743

5 SubmittersRCV001153277 RCV002557300

NM_001369.3(DNAH5):c.7867A>G (p.Thr2623Ala)

SNV
Germline

Chr5:13807611

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202988

rs_371099382

2 SubmittersRCV001153278 RCV002557302

NM_001369.3(DNAH5):c.7306T>C (p.Tyr2436His)

SNV
Germline

Chr5:13811748

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203126

rs_373885245

3 SubmittersRCV001157579 RCV002559513

NM_001369.3(DNAH5):c.7098G>C (p.Arg2366=)

SNV
Germline

Chr5:13814737

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203182

rs_768567429

2 SubmittersRCV001152111 RCV001446963

NM_001369.3(DNAH5):c.6659C>T (p.Pro2220Leu)

SNV
Germline

Chr5:13823291

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203323

rs_144308691

3 SubmittersRCV001153381 RCV002070866

NM_001369.3(DNAH5):c.6217A>G (p.Met2073Val)

SNV
Germline

Chr5:13830058

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3203463

rs_752077073

5 SubmittersRCV001152214 RCV001247854 RCV001759908

NM_001369.3(DNAH5):c.6109A>G (p.Ile2037Val)

SNV
Germline

Chr5:13830166

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203473

rs_200551639

2 SubmittersRCV001152216 RCV002557284

NM_001369.3(DNAH5):c.6053T>C (p.Ile2018Thr)

SNV
Germline

Chr5:13830605

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203497

rs_117989731

3 SubmittersRCV001153507 RCV002070870

NM_001369.3(DNAH5):c.5880C>T (p.Asp1960=)

SNV
Germline

Chr5:13839358

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
Situs inversus

Criteria Provided
Conflicting Classifications

CA443254894

rs_1764848840

3 SubmittersRCV001156109 RCV001409312 RCV005250141

NM_001369.3(DNAH5):c.5608T>C (p.Leu1870=)

SNV
Germline

Chr5:13841007

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203631

rs_763656985

3 SubmittersRCV001157799 RCV001456363

NM_001369.3(DNAH5):c.4855A>G (p.Thr1619Ala)

SNV
Germline

Chr5:13859547

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203859

rs_80164898

2 SubmittersRCV001157897 RCV002558388

NM_001369.3(DNAH5):c.4614G>A (p.Ala1538=)

SNV
Germline

Chr5:13862730

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203919

rs_78667898

3 SubmittersRCV001152429 RCV001469195

NM_001369.3(DNAH5):c.4587G>A (p.Glu1529=)

SNV
Germline

Chr5:13864406

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3203945

rs_569428035

3 SubmittersRCV001156310 RCV001497051 RCV003433055

NM_001369.3(DNAH5):c.4262G>A (p.Ser1421Asn)

SNV
Germline

Chr5:13865761

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204033

rs_774855042

3 SubmittersRCV001153797 RCV002558332

NM_001369.3(DNAH5):c.3934C>T (p.Arg1312Cys)

SNV
Germline

Chr5:13867893

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204132

rs_781667158

2 SubmittersRCV001154860 RCV002558342

NM_001369.3(DNAH5):c.3892A>G (p.Lys1298Glu)

SNV
Germline

Chr5:13867935

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204139

rs_774680760

3 SubmittersRCV001154861 RCV002558343

NM_001369.3(DNAH5):c.3655C>T (p.Arg1219Cys)

SNV
Germline

Chr5:13870946

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA3204205

rs_745321705

5 SubmittersRCV001156530 RCV001243030 RCV003413960

NM_001369.3(DNAH5):c.2951G>A (p.Arg984His)

SNV
Germline

Chr5:13885021

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204447

rs_780758815

2 SubmittersRCV001154122 RCV002557313

NM_001369.3(DNAH5):c.1882T>G (p.Leu628Val)

SNV
Germline

Chr5:13901422

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA3204723

rs_143745645

4 SubmittersRCV001151163 RCV001858988 RCV003918741

NM_001369.3(DNAH5):c.1578A>G (p.Leu526=)

SNV
Germline

Chr5:13911452

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA443275610

rs_1775984639

2 SubmittersRCV001155068 RCV001456666

NM_001369.3(DNAH5):c.1305G>A (p.Ala435=)

SNV
Germline

Chr5:13914535

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204890

rs_766746657

2 SubmittersRCV001151283 RCV002070832

NM_001369.3(DNAH5):c.1092A>G (p.Leu364=)

SNV
Germline

Chr5:13916453

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204953

rs_759149687

2 SubmittersRCV001151286 RCV001492218

NM_001369.3(DNAH5):c.1035G>A (p.Val345=)

SNV
Germline

Chr5:13917197

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA113961620

rs_150335023

2 SubmittersRCV001154345 RCV002070889

NM_001369.3(DNAH5):c.983G>A (p.Arg328Gln)

SNV
Germline

Chr5:13917249

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204995

rs_376626613

3 SubmittersRCV001154346 RCV002379659

NM_001369.3(DNAH5):c.950C>T (p.Ala317Val)

SNV
Germline

Chr5:13919201

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3205030

rs_199691556

3 SubmittersRCV001155178 RCV002070902

NM_001369.3(DNAH5):c.917G>A (p.Ser306Asn)

SNV
Germline

Chr5:13919234

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3205038

rs_144128250

3 SubmittersRCV001155179 RCV002070903

NM_001369.3(DNAH5):c.777A>G (p.Val259=)

SNV
Germline

Chr5:13920501

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA443276070

rs_1580893242

2 SubmittersRCV001155180 RCV002070904

NM_001369.3(DNAH5):c.765T>C (p.Asp255=)

SNV
Germline

Chr5:13920513

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3205105

rs_767772613

2 SubmittersRCV001155181 RCV002070905

NM_001369.3(DNAH5):c.727C>G (p.Leu243Val)

SNV
Germline

Chr5:13920551

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3205110

rs_761877376

2 SubmittersRCV001155182 RCV002559494

NM_001369.3(DNAH5):c.362T>C (p.Val121Ala)

SNV
Germline

Chr5:13923356

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3205202

rs_752992572

3 SubmittersRCV001156829 RCV002558367

NM_001369.3(DNAH5):c.294A>T (p.Leu98=)

SNV
Germline

Chr5:13923424

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA443276452

rs_1458038548

2 SubmittersRCV001151414 RCV001394406

NM_001369.3(DNAH5):c.40G>A (p.Val14Ile)

SNV
Germline

Chr5:13944399

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA113933395

rs_1015850611

2 SubmittersRCV001154438 RCV002558337

NM_001010892.3(RSPH4A):c.287C>T (p.Pro96Leu)

SNV
Germline

Chr6:116616910

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 11
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3970739

rs_201187909

3 SubmittersRCV001156994 RCV002559508

NM_001010892.3(RSPH4A):c.711G>A (p.Leu237=)

SNV
Germline

Chr6:116622792

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 11
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3970825

rs_752300778

3 SubmittersRCV001151578 RCV002558314

NM_001010892.3(RSPH4A):c.1764G>A (p.Gly588=)

SNV
Germline

Chr6:116629668

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 11
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3971025

rs_376516018

2 SubmittersRCV001155429 RCV002558348

NM_001369.3(DNAH5):c.13492-11G>T

SNV
Germline

Chr5:13700882

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201319

rs_749125197

2 SubmittersRCV001151156 RCV003650604

NM_001369.3(DNAH5):c.8821-14G>A

SNV
Germline

Chr5:13780973

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA1139658763

rs_769508388

2 SubmittersRCV001155772 RCV003647827

NM_001369.3(DNAH5):c.7408-14T>C

SNV
Germline

Chr5:13810274

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA557876643

rs_1454703878

2 SubmittersRCV001157577 RCV002070940

NM_001369.3(DNAH5):c.6989-14G>T

SNV
Germline

Chr5:13814860

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203198

rs_368353964

2 SubmittersRCV001152113 RCV002070845

NM_001369.3(DNAH5):c.4116+15T>C

SNV
Germline

Chr5:13866205

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204074

rs_201947846

2 SubmittersRCV001156427 RCV002070923

NM_001369.3(DNAH5):c.2743+12G>A

SNV
Germline

Chr5:13885952

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA557877045

rs_1380292180

2 SubmittersRCV001154123 RCV003650605

NM_001369.3(DNAH5):c.1537-10A>T

SNV
Germline

Chr5:13911503

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204814

rs_777597757

2 SubmittersRCV001155069 RCV001494730

NM_001369.3(DNAH5):c.1090-14G>T

SNV
Germline

Chr5:13916469

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204958

rs_150627172

2 SubmittersRCV001154344 RCV002070888

NM_001369.3(DNAH5):c.661-8C>T

SNV
Germline

Chr5:13920625

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA557875560

rs_1227311322

2 SubmittersRCV001155183 RCV002559495

NM_001369.3(DNAH5):c.57+14G>T

SNV
Germline

Chr5:13944368

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3205302

rs_756464306

2 SubmittersRCV001154436 RCV003650606

NM_001277115.2(DNAH11):c.346C>G (p.Gln116Glu)

SNV
Germline

Chr7:21543591

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178654

rs_374802008

3 SubmittersRCV001164818 RCV002460132

NM_001277115.2(DNAH11):c.395A>G (p.Lys132Arg)

SNV
Germline

Chr7:21545049

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178669

rs_374076948

2 SubmittersRCV001164819 RCV001235462

NM_001277115.2(DNAH11):c.1035C>T (p.His345=)

SNV
Germline

Chr7:21564238

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178883

rs_139391790

2 SubmittersRCV001164927 RCV003537489

NM_001277115.2(DNAH11):c.1567T>C (p.Tyr523His)

SNV
Germline

Chr7:21571947

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4179020

rs_200126117

5 SubmittersRCV001162965 RCV001214628 RCV004792747

NM_001277115.2(DNAH11):c.1794G>T (p.Met598Ile)

SNV
Germline

Chr7:21588147

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179102

rs_573727689

3 SubmittersRCV001162966 RCV002557391

NM_001277115.2(DNAH11):c.1929A>G (p.Gln643=)

SNV
Germline

Chr7:21588592

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179156

rs_374406494

2 SubmittersRCV001165050 RCV002558600

NM_001277115.2(DNAH11):c.2196A>G (p.Lys732=)

SNV
Germline

Chr7:21590944

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179264

rs_757207387

3 SubmittersRCV001161544 RCV003650609

NM_001277115.2(DNAH11):c.2226A>G (p.Ile742Met)

SNV
Germline

Chr7:21590974

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366942023

rs_1335609772

2 SubmittersRCV001161545 RCV001859046

NM_001277115.2(DNAH11):c.2388G>A (p.Leu796=)

SNV
Germline

Chr7:21591298

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179323

rs_771017427

2 SubmittersRCV001163074 RCV002558562

NM_001277115.2(DNAH11):c.2463C>T (p.Ser821=)

SNV
Germline

Chr7:21591373

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179345

rs_530406993

2 SubmittersRCV001165167 RCV002068003

NM_001277115.2(DNAH11):c.3263T>C (p.Ile1088Thr)

SNV
Germline

Chr7:21601017

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4179581

rs_755583135

4 SubmittersRCV001165272 RCV001235103 RCV004695076

NM_001277115.2(DNAH11):c.3545G>A (p.Arg1182Gln)

SNV
Germline

Chr7:21601515

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179668

rs_368316519

3 SubmittersRCV001161764 RCV003650610

NM_001277115.2(DNAH11):c.4315A>G (p.Arg1439Gly)

SNV
Germline

Chr7:21619160

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA155109086

rs_1035326227

2 SubmittersRCV001161878 RCV003769779

NM_001277115.2(DNAH11):c.4353G>A (p.Ala1451=)

SNV
Germline

Chr7:21619198

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180002

rs_373969291

3 SubmittersRCV001161879 RCV002327412

NM_001277115.2(DNAH11):c.5984T>C (p.Met1995Thr)

SNV
Germline

Chr7:21690824

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366950552

rs_1465555535

3 SubmittersRCV001158888 RCV003284004

NM_001277115.2(DNAH11):c.6513T>C (p.Phe2171=)

SNV
Germline

Chr7:21705504

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180851

rs_377635623

2 SubmittersRCV001163919 RCV003769791

NM_001277115.2(DNAH11):c.6662C>T (p.Thr2221Ile)

SNV
Germline

Chr7:21707814

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180921

rs_373624232

3 SubmittersRCV001163921 RCV003353183

NM_001277115.2(DNAH11):c.8223A>G (p.Glu2741=)

SNV
Germline

Chr7:21744506

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181510

rs_371453443

2 SubmittersRCV001164081 RCV003537487

NM_001277115.2(DNAH11):c.8275T>C (p.Phe2759Leu)

SNV
Germline

Chr7:21744558

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181530

rs_148656615

3 SubmittersRCV001164084 RCV002557403

NM_001277115.2(DNAH11):c.8386C>G (p.Pro2796Ala)

SNV
Germline

Chr7:21744939

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181586

rs_139912794

3 SubmittersRCV001159177 RCV002070965

NM_001277115.2(DNAH11):c.8515C>T (p.Arg2839Cys)

SNV
Germline

Chr7:21748584

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4181634

rs_770483579

3 SubmittersRCV001159178 RCV003537484 RCV004726906

NM_001277115.2(DNAH11):c.9209C>G (p.Thr3070Ser)

SNV
Germline

Chr7:21773872

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181900

rs_527922611

2 SubmittersRCV001159285 RCV003537485

NM_001277115.2(DNAH11):c.9280G>A (p.Glu3094Lys)

SNV
Germline

Chr7:21773943

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181911

rs_368259931

3 SubmittersRCV001160641 RCV002375046

NM_001277115.2(DNAH11):c.9627C>T (p.Pro3209=)

SNV
Germline

Chr7:21786653

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182056

rs_200256329

2 SubmittersRCV001164289 RCV002067999

NM_001277115.2(DNAH11):c.10158T>C (p.Leu3386=)

SNV
Germline

Chr7:21801268

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182246

rs_778649796

2 SubmittersRCV001159375 RCV003537486

NM_001277115.2(DNAH11):c.10380G>A (p.Thr3460=)

SNV
Germline

Chr7:21816514

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182350

rs_535847014

3 SubmittersRCV001159376 RCV002393373

NM_001277115.2(DNAH11):c.11534G>A (p.Arg3845Gln)

SNV
Germline

Chr7:21866507

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182790

rs_371438607

3 SubmittersRCV001160960 RCV002348584

NM_001277115.2(DNAH11):c.11793C>T (p.Phe3931=)

SNV
Germline

Chr7:21867961

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182870

rs_774332996

2 SubmittersRCV001160961 RCV001462961

NM_012472.6(DNAAF11):c.*239T>C

SNV
Germline

Chr8:132572067

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 19
Condition: not provided

Criteria Provided
Conflicting Classifications

CA186268534

rs_116329113

2 SubmittersRCV001164632 RCV001571238

NM_012472.6(DNAAF11):c.*5T>G

SNV
Germline

Chr8:132572301

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 19
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4881067

rs_144068846

2 SubmittersRCV001159717 RCV002462333

NM_012472.6(DNAAF11):c.719T>C (p.Leu240Ser)

SNV
Germline

Chr8:132625389

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 19
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4881316

rs_147849568

4 SubmittersRCV001164736 RCV002462335 RCV002508292

NM_001277115.2(DNAH11):c.693-14C>G

SNV
Germline

Chr7:21559589

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178759

rs_574585676

2 SubmittersRCV001161307 RCV002071000

NM_001277115.2(DNAH11):c.3649-14C>G

SNV
Germline

Chr7:21606412

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179706

rs_750945230

2 SubmittersRCV001163289 RCV003647829

NM_001277115.2(DNAH11):c.7135-14T>G

SNV
Germline

Chr7:21720711

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA1139659991

rs_1784841830

2 SubmittersRCV001161977 RCV003769781

NM_001277115.2(DNAH11):c.8797+12A>C

SNV
Germline

Chr7:21749813

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181727

rs_372924996

2 SubmittersRCV001160535 RCV003650608

NM_001277115.2(DNAH11):c.9924+12A>G

SNV
Germline

Chr7:21787595

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182153

rs_760445518

2 SubmittersRCV001164290 RCV003650611

NM_001277115.2(DNAH11):c.12388-4A>G

SNV
Germline

Chr7:21884287

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA155162835

rs_758561213

2 SubmittersRCV001164599 RCV003537488

NM_012472.6(DNAAF11):c.178+13A>G

SNV
Germline

Chr8:132661447

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 19

Criteria Provided
Conflicting Classifications

CA4881455

rs_200580615

2 SubmittersRCV001159822

NM_012144.4(DNAI1):c.1551G>A (p.Glu517=)

SNV
Germline

Chr9:34513173

Conflicting classifications of pathogenicity

Kartagener syndrome
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA5034441

rs_751010917

2 SubmittersRCV001169804 RCV002068045

NM_001369.3(DNAH5):c.3949C>T (p.Gln1317Ter)

SNV
Unknown

Chr5:13867878

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359229059

rs_1769508571

1 SubmittersRCV001268923

NM_001277115.2(DNAH11):c.13288G>C (p.Gly4430Arg)

SNV
Germline

Chr7:21900105

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA366956303

rs_1275074212

2 SubmittersRCV001268928 RCV005253728

NM_001277115.2(DNAH11):c.13373C>T (p.Pro4458Leu)

SNV
Germline

Chr7:21901076

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA4183469

rs_72658835

5 SubmittersRCV001594411 RCV001268926

NM_130810.4(DNAAF4):c.856G>T (p.Glu286Ter)

SNV
Germline

Chr15:55439509

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA7574909

rs_770136467

1 SubmittersRCV001268924

NM_017950.4(CCDC40):c.2832+297G>T

SNV
Unknown

Chr17:80090181

Likely pathogenic

Primary ciliary dyskinesia 15

Criteria Provided
Single Submitter

CA401351584

rs_1187849857

1 SubmittersRCV001198567

NM_001369.3(DNAH5):c.12813G>A (p.Trp4271Ter)

SNV
Germline

Chr5:13716583

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359204006

rs_763259925

1 SubmittersRCV001219895

NM_001369.3(DNAH5):c.11941G>T (p.Glu3981Ter)

SNV
Germline

Chr5:13727599

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359218277

rs_1745928643

1 SubmittersRCV001218542

NM_001369.3(DNAH5):c.11536C>T (p.Gln3846Ter)

SNV
Germline

Chr5:13735852

Pathogenic

Primary ciliary dyskinesia
DNAH5-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA359224668

rs_1443845070

2 SubmittersRCV001214836 RCV003398948

NM_001369.3(DNAH5):c.8827C>T (p.Arg2943Cys)

SNV
Germline

Chr5:13780953

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Respiratory ciliopathies including non-CF bronchiectasis

Criteria Provided
Conflicting Classifications

CA3202699

rs_758324905

5 SubmittersRCV001221360 RCV005236693 RCV005253745

NM_001369.3(DNAH5):c.3912T>G (p.Tyr1304Ter)

SNV
Germline

Chr5:13867915

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359229333

rs_1769515132

1 SubmittersRCV001221240

NM_001369.3(DNAH5):c.2717G>C (p.Ser906Thr)

SNV
Germline

Chr5:13885990

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3204516

rs_540038644

3 SubmittersRCV001217001 RCV004761992

NM_001369.3(DNAH5):c.2050C>T (p.Gln684Ter)

SNV
Germline

Chr5:13901254

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359204694

rs_1774569874

1 SubmittersRCV001219794

NM_001369.3(DNAH5):c.886A>T (p.Lys296Ter)

SNV
Germline

Chr5:13919265

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359219014

rs_545061430

1 SubmittersRCV001224890

NM_001277115.2(DNAH11):c.2243C>T (p.Ala748Val)

SNV
Germline

Chr7:21590991

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4179271

rs_372819257

3 SubmittersRCV001223909 RCV005040045

NM_001277115.2(DNAH11):c.6706G>C (p.Gly2236Arg)

SNV
Germline

Chr7:21710575

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366939974

rs_1583616682

1 SubmittersRCV001220599

NM_001277115.2(DNAH11):c.6898A>G (p.Ile2300Val)

SNV
Germline

Chr7:21711775

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181036

rs_767273694

2 SubmittersRCV001221673

NM_001277115.2(DNAH11):c.7472G>C (p.Arg2491Pro)

SNV
Germline

Chr7:21735671

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4181243

rs_369438218

3 SubmittersRCV001218887 RCV003148949 RCV002504271

NM_001277115.2(DNAH11):c.7511A>G (p.Lys2504Arg)

SNV
Germline

Chr7:21735710

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181252

rs_775730577

2 SubmittersRCV001225038

NM_001277115.2(DNAH11):c.10264G>A (p.Gly3422Arg)

SNV
Germline

Chr7:21807981

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA4182302

rs_764509824

2 SubmittersRCV001224395 RCV003447580

NM_001277115.2(DNAH11):c.11650C>G (p.Leu3884Val)

SNV
Germline

Chr7:21866623

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182816

rs_748676766

2 SubmittersRCV001220730

NM_001277115.2(DNAH11):c.12310C>T (p.Arg4104Ter)

SNV
Germline

Chr7:21880816

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA4183031

rs_775230957

2 SubmittersRCV001224515 RCV005236697

NM_001277115.2(DNAH11):c.12848T>C (p.Leu4283Pro)

SNV
Germline

Chr7:21894720

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4183203

rs_373110271

2 SubmittersRCV001221042

NM_001277115.2(DNAH11):c.13288G>A (p.Gly4430Arg)

SNV
Germline

Chr7:21900105

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA366956301

rs_1275074212

4 SubmittersRCV001214607 RCV004690018 RCV005036475

NM_003114.5(SPAG1):c.1561A>G (p.Met521Val)

SNV
Germline

Chr8:100220304

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 28
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4827536

rs_745418167

2 SubmittersRCV001217154 RCV004822324

NM_012472.6(DNAAF11):c.682C>T (p.Gln228Ter)

SNV
Germline

Chr8:132625426

Pathogenic

Primary ciliary dyskinesia 19

Criteria Provided
Single Submitter

CA372294859

rs_1170838072

1 SubmittersRCV001224609

NM_012144.4(DNAI1):c.1212T>G (p.Tyr404Ter)

SNV
Germline

Chr9:34506775

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Kartagener syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA192646101

rs_926347298

5 SubmittersRCV001224667 RCV003234003

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_001369.3(DNAH5):c.13443G>A (p.Trp4481Ter)

SNV
Germline

Chr5:13701332

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA359192583

rs_1742088018

3 SubmittersRCV001211559 RCV002259385 RCV005232174

NM_001369.3(DNAH5):c.12495T>A (p.Tyr4165Ter)

SNV
Germline

Chr5:13718886

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359208777

rs_373536906

1 SubmittersRCV001210718

NM_001369.3(DNAH5):c.11026A>T (p.Lys3676Ter)

SNV
Germline

Chr5:13752136

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359189625

rs_1750322897

1 SubmittersRCV001210646

NM_001369.3(DNAH5):c.10472C>T (p.Thr3491Met)

SNV
Germline

Chr5:13754286

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202217

rs_760010021

3 SubmittersRCV001208238

NM_001369.3(DNAH5):c.10435G>A (p.Ala3479Thr)

SNV
Germline

Chr5:13754323

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA3202225

rs_143295106

5 SubmittersRCV002298902 RCV001204898 RCV003918778

NM_001369.3(DNAH5):c.9778C>T (p.Gln3260Ter)

SNV
Germline

Chr5:13769079

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Condition: not provided
Respiratory ciliopathies including non-CF bronchiectasis
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA359202092

rs_1752923333

5 SubmittersRCV001213300 RCV001580018 RCV004584146 RCV005036470

NM_001369.3(DNAH5):c.5147G>C (p.Arg1716Pro)

SNV
Germline

Chr5:13844961

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359214371

rs_74799487

2 SubmittersRCV001202749

NM_001369.3(DNAH5):c.5131C>T (p.Arg1711Ter)

SNV
Germline

Chr5:13844977

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA3203780

rs_760869074

2 SubmittersRCV001208854 RCV005040020

NM_001190787.3(MCIDAS):c.625C>T (p.Gln209Ter)

SNV
Germline

Chr5:55221108

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359731644

rs_1745348853

1 SubmittersRCV001202944

NM_001277115.2(DNAH11):c.133G>A (p.Ala45Thr)

SNV
Germline

Chr7:21543378

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178620

rs_772333047

2 SubmittersRCV001204234

NM_001277115.2(DNAH11):c.472C>T (p.His158Tyr)

SNV
Germline

Chr7:21545126

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4178675

rs_374186868

3 SubmittersRCV001209288 RCV002484133

NM_001277115.2(DNAH11):c.932A>G (p.Gln311Arg)

SNV
Germline

Chr7:21561120

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4178826

rs_199579217

2 SubmittersRCV001206500 RCV003318668

NM_001277115.2(DNAH11):c.1097A>T (p.His366Leu)

SNV
Germline

Chr7:21564300

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366933862

rs_1220335751

2 SubmittersRCV001214116

NM_001277115.2(DNAH11):c.3050T>G (p.Met1017Arg)

SNV
Germline

Chr7:21600725

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA155087728

rs_949130021

3 SubmittersRCV001208655 RCV001838433

NM_001277115.2(DNAH11):c.3117C>G (p.Tyr1039Ter)

SNV
Germline

Chr7:21600792

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366945144

rs_760622693

1 SubmittersRCV001209116

NM_001277115.2(DNAH11):c.5144G>A (p.Arg1715His)

SNV
Germline

Chr7:21658847

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4180320

rs_763926220

2 SubmittersRCV001206290 RCV002497704

NM_001277115.2(DNAH11):c.5593C>T (p.Arg1865Ter)

SNV
Germline

Chr7:21683916

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA4180474

rs_767101212

1 SubmittersRCV001206865

NM_001277115.2(DNAH11):c.8345A>T (p.Gln2782Leu)

SNV
Germline

Chr7:21744898

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366953960

rs_1420930266

2 SubmittersRCV001203488

NM_001277115.2(DNAH11):c.10036C>T (p.Arg3346Ter)

SNV
Germline

Chr7:21801146

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA4182212

rs_773851007

2 SubmittersRCV001213439 RCV005036471

NM_001277115.2(DNAH11):c.11714G>C (p.Gly3905Ala)

SNV
Germline

Chr7:21867882

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4182853

rs_767288107

3 SubmittersRCV001206037 RCV003147595

NM_003114.5(SPAG1):c.1096A>T (p.Lys366Ter)

SNV
Germline

Chr8:100194268

Pathogenic

Primary ciliary dyskinesia 28

Criteria Provided
Single Submitter

CA4827437

rs_747483177

1 SubmittersRCV001204513

NM_017950.4(CCDC40):c.2156G>A (p.Arg719His)

SNV
Germline

Chr17:80084909

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8814117

rs_572440259

2 SubmittersRCV001206331

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_001369.3(DNAH5):c.9373+1G>C

SNV
Germline

Chr5:13776438

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359207665

rs_1754098584

1 SubmittersRCV001203624

NM_001369.3(DNAH5):c.7888-2A>G

SNV
Germline

Chr5:13794060

Likely pathogenic

Primary ciliary dyskinesia
DNAH5-related disorder

Criteria Provided
Single Submitter

CA359222527

rs_1230911299

2 SubmittersRCV001212837 RCV004726971

NM_001369.3(DNAH5):c.2578-1G>A

SNV
Germline

Chr5:13886130

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359196963

rs_1166599454

1 SubmittersRCV001208369

NM_152732.5(RSPH9):c.393+1G>A

SNV
Germline

Chr6:43650541

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA138333358

rs_1054247330

1 SubmittersRCV001204684

NM_152732.5(RSPH9):c.523+1G>C

SNV
Germline

Chr6:43655692

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3828316

rs_762292335

1 SubmittersRCV001206944

NM_001277115.2(DNAH11):c.1710+1G>C

SNV
Germline

Chr7:21582022

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA366937467

rs_1784326790

2 SubmittersRCV001202391 RCV002480660

NM_012144.4(DNAI1):c.49-1G>C

SNV
Germline

Chr9:34483447

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA5033904

rs_748042738

2 SubmittersRCV001212000

NM_012144.4(DNAI1):c.501+1G>A

SNV
Germline

Chr9:34490125

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373246357

rs_1824556879

1 SubmittersRCV001210157

NM_023036.6(DNAI2):c.864+1G>T

SNV
Germline

Chr17:74299858

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA400908893

rs_1177965342

1 SubmittersRCV001202302

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_001369.3(DNAH5):c.193-1G>A

SNV
Germline

Chr5:13928179

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359227597

rs_369193065

1 SubmittersRCV001223597

NM_001369.3(DNAH5):c.58-1G>A

SNV
Germline

Chr5:13931245

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359230588

rs_1778386695

1 SubmittersRCV001218629

NM_001277115.2(DNAH11):c.10691+5G>C

SNV
Germline

Chr7:21818344

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA572919287

rs_1429978132

1 SubmittersRCV001224508

NM_012144.4(DNAI1):c.1489+2T>G

SNV
Germline

Chr9:34512426

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373261482

rs_1825084931

1 SubmittersRCV001216195

NM_001369.3(DNAH5):c.12107G>A (p.Trp4036Ter)

SNV
Germline

Chr5:13721172

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA3201735

rs_760104757

4 SubmittersRCV001225492 RCV001780155

NM_001369.3(DNAH5):c.11263A>T (p.Arg3755Ter)

SNV
Germline

Chr5:13737444

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359228572

rs_1747686698

1 SubmittersRCV001235426

NM_001369.3(DNAH5):c.8966C>G (p.Ser2989Ter)

SNV
Germline

Chr5:13777341

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359211453

rs_1754250771

1 SubmittersRCV001225463

NM_001369.3(DNAH5):c.7276C>T (p.Gln2426Ter)

SNV
Germline

Chr5:13811778

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359189498

rs_1760754570

1 SubmittersRCV001238651

NM_001369.3(DNAH5):c.5658C>G (p.Tyr1886Ter)

SNV
Germline

Chr5:13840957

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA359209052

rs_6880264

2 SubmittersRCV001231642 RCV004796381

NM_001369.3(DNAH5):c.3259C>T (p.Gln1087Ter)

SNV
Germline

Chr5:13882731

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359191605

rs_1771846004

1 SubmittersRCV001232542

NM_001369.3(DNAH5):c.670C>T (p.Arg224Ter)

SNV
Germline

Chr5:13920608

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3205119

rs_771463510

1 SubmittersRCV001226504

NM_001206927.2(DNAH8):c.253C>T (p.Arg85Ter)

SNV
Germline

Chr6:38723062

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3787891

rs_545867507

1 SubmittersRCV001225896

NM_001206927.2(DNAH8):c.2699T>A (p.Leu900Ter)

SNV
Germline

Chr6:38790323

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA363990767

rs_1769605097

1 SubmittersRCV001230655

NM_001206927.2(DNAH8):c.3511A>T (p.Lys1171Ter)

SNV
Germline

Chr6:38815645

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA363990316

rs_1772190647

1 SubmittersRCV001226235

NM_001206927.2(DNAH8):c.13835G>T (p.Gly4612Val)

SNV
Germline

Chr6:39026666

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA3791786

rs_371583300

2 SubmittersRCV001225879 RCV005550192

NM_001277115.2(DNAH11):c.168C>G (p.Asp56Glu)

SNV
Germline

Chr7:21543413

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA155057857

rs_978373825

2 SubmittersRCV001237612

NM_001277115.2(DNAH11):c.1006G>A (p.Glu336Lys)

SNV
Germline

Chr7:21564209

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4178877

rs_374332166

2 SubmittersRCV001227845 RCV004774325

NM_001277115.2(DNAH11):c.2248T>G (p.Phe750Val)

SNV
Germline

Chr7:21590996

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179274

rs_776959465

2 SubmittersRCV001226709

NM_001277115.2(DNAH11):c.3910C>T (p.Arg1304Cys)

SNV
Germline

Chr7:21615171

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179821

rs_759530635

2 SubmittersRCV001225369

NM_001277115.2(DNAH11):c.4772C>T (p.Thr1591Met)

SNV
Germline

Chr7:21637657

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180154

rs_778000913

2 SubmittersRCV001229715

NM_001277115.2(DNAH11):c.6541A>G (p.Ser2181Gly)

SNV
Germline

Chr7:21705532

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366938297

rs_1415270608

1 SubmittersRCV001229824

NM_001277115.2(DNAH11):c.6817G>A (p.Val2273Ile)

SNV
Germline

Chr7:21710686

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4180989

rs_772793348

2 SubmittersRCV001232776 RCV003615869

NM_001277115.2(DNAH11):c.7594A>G (p.Ile2532Val)

SNV
Germline

Chr7:21735793

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4181279

rs_752203815

3 SubmittersRCV001233040 RCV004695243

NM_001277115.2(DNAH11):c.7973A>G (p.Tyr2658Cys)

SNV
Germline

Chr7:21741985

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181437

rs_377216163

2 SubmittersRCV001235463

NM_001277115.2(DNAH11):c.9022A>G (p.Ile3008Val)

SNV
Germline

Chr7:21765509

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4181822

rs_369862935

5 SubmittersRCV001231094 RCV003145440 RCV004706072

NM_001277115.2(DNAH11):c.11087G>A (p.Arg3696Lys)

SNV
Germline

Chr7:21854340

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA366959809

rs_1262229619

5 SubmittersRCV001229822 RCV001568136 RCV002282492

NM_001277115.2(DNAH11):c.12700C>T (p.Pro4234Ser)

SNV
Germline

Chr7:21892617

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4183150

rs_376606944

2 SubmittersRCV001228476

NM_012144.4(DNAI1):c.544C>T (p.Gln182Ter)

SNV
Germline

Chr9:34490411

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373246784

rs_1824564325

1 SubmittersRCV001232528

NM_130810.4(DNAAF4):c.988C>T (p.Arg330Trp)

SNV
Germline

Chr15:55434964

Pathogenic/Likely pathogenic

Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 25

Criteria Provided
Multiple Submitters
No Conflicts

CA7574865

rs_201173498

5 SubmittersRCV001229428 RCV001255276 RCV003142192

NM_001256715.2(DNAAF3):c.1075G>A (p.Val359Ile)

SNV
Germline

Chr19:55159987

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA9667916

rs_774136369

2 SubmittersRCV001226015

NM_001256715.2(DNAAF3):c.86-60A>C

SNV
Germline

Chr19:55166060

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA9668240

rs_771361438

2 SubmittersRCV001232055

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_001369.3(DNAH5):c.13159C>T (p.Gln4387Ter)

SNV
Germline

Chr5:13708302

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359198088

rs_1195383216

1 SubmittersRCV001245501

NM_001369.3(DNAH5):c.12727C>T (p.Arg4243Cys)

SNV
Germline

Chr5:13716669

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201535

rs_150357258

3 SubmittersRCV001247726

NM_001369.3(DNAH5):c.11803T>A (p.Ser3935Thr)

SNV
Germline

Chr5:13729519

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA3201832

rs_145685491

6 SubmittersRCV001241635 RCV002264246 RCV003393909

NM_001369.3(DNAH5):c.11326G>A (p.Val3776Ile)

SNV
Germline

Chr5:13737381

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3201998

rs_559545340

3 SubmittersRCV001246072 RCV003145484

NM_001369.3(DNAH5):c.10774A>C (p.Ile3592Leu)

SNV
Germline

Chr5:13753331

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202142

rs_758395320

4 SubmittersRCV001239596 RCV001815523 RCV002491785

NM_001369.3(DNAH5):c.10731C>G (p.Asn3577Lys)

SNV
Germline

Chr5:13753374

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202146

rs_376292253

4 SubmittersRCV001240939 RCV001587270

NM_001369.3(DNAH5):c.10041G>T (p.Met3347Ile)

SNV
Germline

Chr5:13766036

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3202345

rs_536239913

4 SubmittersRCV001247993 RCV003328665

NM_001369.3(DNAH5):c.9626A>G (p.Lys3209Arg)

SNV
Germline

Chr5:13769595

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3202477

rs_201473584

4 SubmittersRCV001241751 RCV004793342

NM_001369.3(DNAH5):c.9065C>A (p.Ser3022Ter)

SNV
Germline

Chr5:13777242

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359210516

rs_1754226636

1 SubmittersRCV001244126

NM_001369.3(DNAH5):c.8184T>G (p.Asn2728Lys)

SNV
Germline

Chr5:13793555

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA359221063

rs_1469012975

4 SubmittersRCV001245811 RCV005051875

NM_001369.3(DNAH5):c.6556C>T (p.Arg2186Trp)

SNV
Germline

Chr5:13824222

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3203362

rs_756444637

3 SubmittersRCV001243648 RCV002499408

NM_001369.3(DNAH5):c.6049C>T (p.Arg2017Trp)

SNV
Germline

Chr5:13830609

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3203498

rs_143679999

4 SubmittersRCV001245173 RCV001532030

NM_001369.3(DNAH5):c.4269A>G (p.Ile1423Met)

SNV
Germline

Chr5:13865754

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3204030

rs_779020258

4 SubmittersRCV001246602 RCV004778029

NM_001369.3(DNAH5):c.3428G>A (p.Arg1143His)

SNV
Germline

Chr5:13871734

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204269

rs_150739124

3 SubmittersRCV001246732

NM_001369.3(DNAH5):c.3037A>G (p.Ser1013Gly)

SNV
Germline

Chr5:13883041

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3204411

rs_369783406

4 SubmittersRCV001243106 RCV002484338

NM_001206927.2(DNAH8):c.9079C>T (p.Arg3027Ter)

SNV
Germline

Chr6:38899791

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3790390

rs_747550558

1 SubmittersRCV001243071

NM_001206927.2(DNAH8):c.13747C>T (p.Arg4583Cys)

SNV
Germline

Chr6:39026578

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
DNAH8-related disorder
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3791760

rs_144505769

4 SubmittersRCV001245518 RCV003945942 RCV004034830 RCV004793355

NM_001277115.2(DNAH11):c.2570G>A (p.Arg857Gln)

SNV
Germline

Chr7:21591480

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179374

rs_376572966

2 SubmittersRCV001245390

NM_001277115.2(DNAH11):c.2750A>T (p.Glu917Val)

SNV
Germline

Chr7:21599869

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4179424

rs_543944909

6 SubmittersRCV001245671 RCV001732092 RCV004706073

NM_001277115.2(DNAH11):c.5199G>A (p.Trp1733Ter)

SNV
Germline

Chr7:21658902

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366939773

rs_1782130455

1 SubmittersRCV001246824

NM_001277115.2(DNAH11):c.8255A>T (p.Asp2752Val)

SNV
Germline

Chr7:21744538

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181524

rs_768309014

2 SubmittersRCV001239603

NM_001277115.2(DNAH11):c.11717C>T (p.Ala3906Val)

SNV
Germline

Chr7:21867885

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182854

rs_200664169

2 SubmittersRCV001247813

NM_017802.4(DNAAF5):c.1796G>A (p.Gly599Glu)

SNV
Germline

Chr7:770483

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4110934

rs_149924115

2 SubmittersRCV001245616

NM_012144.4(DNAI1):c.119A>G (p.Asp40Gly)

SNV
Germline

Chr9:34485179

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA5033935

rs_553371109

3 SubmittersRCV001240410

NM_012144.4(DNAI1):c.994C>A (p.Arg332Ser)

SNV
Germline

Chr9:34500814

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Kartagener syndrome

Criteria Provided
Conflicting Classifications

CA5034241

rs_182015909

4 SubmittersRCV001241013 RCV002491801

NM_001034853.2(RPGR):c.1371G>C (p.Glu457Asp)

SNV
Germline

ChrX:38297327

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10385488

rs_371226433

2 SubmittersRCV001245288

NM_001369.3(DNAH5):c.6445-2A>G

SNV
Germline

Chr5:13824335

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359198194

rs_1309120344

1 SubmittersRCV001227038

NM_001369.3(DNAH5):c.2260-2A>G

SNV
Germline

Chr5:13894823

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359201564

rs_1773706886

1 SubmittersRCV001227330

NM_001277115.2(DNAH11):c.983-1G>T

SNV
Germline

Chr7:21564185

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4178869

rs_777285019

4 SubmittersRCV001236294 RCV005359978 RCV003438726

NM_001277115.2(DNAH11):c.3766-8A>G

SNV
Germline

Chr7:21606639

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA1139659989

rs_1785297774

1 SubmittersRCV001231738

NM_012144.4(DNAI1):c.262-2A>G

SNV
Germline

Chr9:34489321

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373244209

rs_1824533495

1 SubmittersRCV001229173

NM_001369.3(DNAH5):c.6444+1G>A

SNV
Germline

Chr5:13829509

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3203406

rs_781236248

2 SubmittersRCV001245609

NM_001277115.2(DNAH11):c.11203-1G>C

SNV
Germline

Chr7:21861852

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA366960999

rs_1783074775

2 SubmittersRCV001245195

NM_001277115.2(DNAH11):c.6565C>T (p.Arg2189Ter)

SNV
Germline

Chr7:21707717

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4180893

rs_778698443

4 SubmittersRCV001251124 RCV003652115 RCV005423945

NM_001034853.2(RPGR):c.3160G>T (p.Glu1054Ter)

SNV
Germline

ChrX:38285839

Pathogenic

Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412728870

rs_2067118339

2 SubmittersRCV001251571 RCV003647834

NM_001034853.2(RPGR):c.2865G>A (p.Trp955Ter)

SNV
Germline

ChrX:38286134

Pathogenic

Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412729593

rs_2067146202

2 SubmittersRCV001251530 RCV002570455

NM_001034853.2(RPGR):c.2509G>T (p.Glu837Ter)

SNV
Germline

ChrX:38286490

Pathogenic

Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412730478

rs_2067177281

2 SubmittersRCV001251610 RCV002568717

NM_001034853.2(RPGR):c.2006G>A (p.Trp669Ter)

SNV
Germline

ChrX:38286993

Pathogenic

Retinitis pigmentosa 3
Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412731791

rs_2067196800

3 SubmittersRCV001251560 RCV004719117 RCV002570459

NM_001034853.2(RPGR):c.1787C>A (p.Ser596Ter)

SNV
Germline

ChrX:38287212

Pathogenic

Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412732961

rs_2067202860

2 SubmittersRCV001251557 RCV002570458

NM_001369.3(DNAH5):c.12473G>A (p.Arg4158Gln)

SNV
Germline

Chr5:13718908

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3201630

rs_376927687

5 SubmittersRCV001255286 RCV005232222 RCV004692358

NM_001369.3(DNAH5):c.6657C>A (p.Tyr2219Ter)

SNV
Germline

Chr5:13823293

Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA359195655

rs_1270916321

3 SubmittersRCV001255302 RCV003485698

NM_001369.3(DNAH5):c.6308C>A (p.Ser2103Ter)

SNV
Germline

Chr5:13829646

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA3203430

rs_769260126

2 SubmittersRCV001255288

NM_001369.3(DNAH5):c.5582A>C (p.Gln1861Pro)

SNV
Germline

Chr5:13841033

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA3203634

rs_780320440

3 SubmittersRCV001255259 RCV005419056

NM_001369.3(DNAH5):c.1602C>A (p.Asp534Glu)

SNV
Germline

Chr5:13911428

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA359211891

rs_753367747

2 SubmittersRCV001255247

NM_001369.3(DNAH5):c.277G>A (p.Gly93Arg)

SNV
Germline

Chr5:13928094

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA359226469

rs_1428534050

3 SubmittersRCV001255291

NM_001010892.3(RSPH4A):c.1838C>G (p.Ser613Ter)

SNV
Germline

Chr6:116630474

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA365409963

rs_1775776645

1 SubmittersRCV001255268

NM_001277115.2(DNAH11):c.2500G>A (p.Val834Met)

SNV
Germline

Chr7:21591410

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4179357

rs_368578923

4 SubmittersRCV001255301 RCV003481038

NM_001277115.2(DNAH11):c.3173C>A (p.Ala1058Asp)

SNV
Germline

Chr7:21600848

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179544

rs_756753955

2 SubmittersRCV001255257

NM_001277115.2(DNAH11):c.7525G>A (p.Val2509Ile)

SNV
Germline

Chr7:21735724

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366948618

rs_1259559217

2 SubmittersRCV001255252

NM_001277115.2(DNAH11):c.12796T>A (p.Phe4266Ile)

SNV
Germline

Chr7:21894668

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4183187

rs_186358036

3 SubmittersRCV001255256

NM_001277115.2(DNAH11):c.13184G>A (p.Arg4395Gln)

SNV
Germline

Chr7:21900001

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4183365

rs_368249392

3 SubmittersRCV001255292 RCV004727054

NM_003114.5(SPAG1):c.401C>G (p.Ser134Ter)

SNV
Germline

Chr8:100177916

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA371800803

rs_934869420

1 SubmittersRCV001255266

NM_012144.4(DNAI1):c.1163G>T (p.Cys388Phe)

SNV
Germline

Chr9:34506726

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA5034310

rs_767667443

1 SubmittersRCV001255241

NM_145045.5(ODAD3):c.98C>A (p.Ser33Ter)

SNV
Germline

Chr19:11434919

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA404128515

rs_1969627663

1 SubmittersRCV001255308

NM_003611.3(OFD1):c.2273C>G (p.Ser758Ter)

SNV
Germline

ChrX:13761097

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412344893

rs_2047909739

1 SubmittersRCV001255273

NM_001034853.2(RPGR):c.2135A>G (p.Gln712Arg)

SNV
Germline

ChrX:38286864

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10385304

rs_749852225

2 SubmittersRCV001255269

NM_001034853.2(RPGR):c.1763A>G (p.Glu588Gly)

SNV
Germline

ChrX:38287236

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA412733078

rs_1222240619

2 SubmittersRCV001255311

NM_003611.3(OFD1):c.2669G>A (p.Arg890Gln)

SNV
Germline

ChrX:13767196

Conflicting classifications of pathogenicity

Rare genetic intellectual disability
Primary ciliary dyskinesia
Joubert syndrome
Orofaciodigital syndrome I
not specified

Criteria Provided
Conflicting Classifications

CA10352061

rs_748643730

4 SubmittersRCV001257024 RCV004035368 RCV003770338 RCV004800761

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_001277115.2(DNAH11):c.10183C>G (p.Gln3395Glu)

SNV
Germline

Chr7:21807900

Conflicting classifications of pathogenicity

Inborn genetic diseases
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182280

rs_759904861

2 SubmittersRCV001267120 RCV003652118

NM_001034853.2(RPGR):c.779-5T>G

SNV
Germline

ChrX:38304795

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA1139667471

rs_2067565504

2 SubmittersRCV001268762 RCV002411921

NM_001369.3(DNAH5):c.11028+2T>C

SNV
Germline

Chr5:13752132

Likely pathogenic

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359189605

rs_773447251

2 SubmittersRCV001283849 RCV001871649

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_001190787.3(MCIDAS):c.964G>A (p.Ala322Thr)

SNV
Germline

Chr5:55220560

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA118981343

rs_113717721

2 SubmittersRCV001305795 RCV002543141

NM_001277115.2(DNAH11):c.2278A>G (p.Ile760Val)

SNV
Germline

Chr7:21591188

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366942243

rs_768205792

2 SubmittersRCV001296603

NM_001277115.2(DNAH11):c.4926A>C (p.Lys1642Asn)

SNV
Germline

Chr7:21639047

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180218

rs_770520414

2 SubmittersRCV001304980

NM_001277115.2(DNAH11):c.8684C>T (p.Ala2895Val)

SNV
Germline

Chr7:21749688

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181695

rs_530087550

2 SubmittersRCV001309955

NM_001277115.2(DNAH11):c.9745G>A (p.Asp3249Asn)

SNV
Germline

Chr7:21787404

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4182108

rs_537824201

3 SubmittersRCV001301213 RCV002267102

NM_001277115.2(DNAH11):c.10796A>G (p.Gln3599Arg)

SNV
Germline

Chr7:21842648

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4182489

rs_371437266

3 SubmittersRCV001307464 RCV001773615

NM_001277115.2(DNAH11):c.11884G>A (p.Val3962Met)

SNV
Germline

Chr7:21868908

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4182910

rs_199719583

4 SubmittersRCV001296837 RCV005051885

NM_003114.5(SPAG1):c.547A>G (p.Ile183Val)

SNV
Germline

Chr8:100184014

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 28
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4827292

rs_751142825

2 SubmittersRCV001296836 RCV005492991

NM_012144.4(DNAI1):c.1676G>A (p.Cys559Tyr)

SNV
Germline

Chr9:34514500

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
DNAI1-related disorder
Condition: not provided
Kartagener syndrome

Criteria Provided
Conflicting Classifications

CA373263708

rs_1335386227

5 SubmittersRCV001304661 RCV003399080 RCV005051889 RCV005040155

NM_018139.3(DNAAF2):c.343C>G (p.Pro115Ala)

SNV
Germline

Chr14:49634807

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA260669947

rs_931555570

2 SubmittersRCV001296975

NM_017950.4(CCDC40):c.3130T>A (p.Phe1044Ile)

SNV
Germline

Chr17:80097353

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8814626

rs_377222257

3 SubmittersRCV001294729 RCV004692418

NM_001364171.2(ODAD1):c.707C>T (p.Ala236Val)

SNV
Germline

Chr19:48304099

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA9548979

rs_374990723

3 SubmittersRCV001824438 RCV001296711

NC_000019.10:g.55166633C>G

SNV
Germline

Chr19:55166633

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA9668332

rs_774308391

2 SubmittersRCV001309846

NM_001369.3(DNAH5):c.7967T>C (p.Ile2656Thr)

SNV
Germline

Chr5:13793979

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA3202943

rs_752318477

1 SubmittersRCV001594418

NM_001277115.2(DNAH11):c.7441-1G>C

SNV
Germline

Chr7:21735639

Pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA366948094

rs_2128489042

2 SubmittersRCV001594425

NM_001277115.2(DNAH11):c.9454A>T (p.Lys3152Ter)

SNV
Germline

Chr7:21779075

Pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

CA366937803

rs_2127982555

1 SubmittersRCV001594441

NM_178452.6(DNAAF1):c.1930A>T (p.Arg644Ter)

SNV
Germline

Chr16:84176164

Pathogenic

Primary ciliary dyskinesia 13

Criteria Provided
Single Submitter

CA396951078

rs_1359241037

1 SubmittersRCV001594422

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_001369.3(DNAH5):c.12250C>T (p.Arg4084Trp)

SNV
Germline

Chr5:13721029

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201703

rs_752895938

3 SubmittersRCV001316185

NM_001369.3(DNAH5):c.6088T>G (p.Cys2030Gly)

SNV
Germline

Chr5:13830187

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
not specified

Criteria Provided
Conflicting Classifications

CA359201718

rs_1763453207

3 SubmittersRCV001315694 RCV005038066 RCV004690073

NM_001277115.2(DNAH11):c.32G>A (p.Arg11Gln)

SNV
Germline

Chr7:21543277

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366931004

rs_1471867391

2 SubmittersRCV001315184

NM_001277115.2(DNAH11):c.5836G>A (p.Glu1946Lys)

SNV
Germline

Chr7:21687439

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA366949663

rs_1165469663

2 SubmittersRCV001323616 RCV005437085

NM_001277115.2(DNAH11):c.5843A>C (p.Asn1948Thr)

SNV
Germline

Chr7:21687446

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4180575

rs_754385182

2 SubmittersRCV001315390 RCV003442840

NM_001277115.2(DNAH11):c.11260C>G (p.Gln3754Glu)

SNV
Germline

Chr7:21861910

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182683

rs_372918576

2 SubmittersRCV001320093

NM_001277115.2(DNAH11):c.11459T>C (p.Val3820Ala)

SNV
Germline

Chr7:21864620

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182756

rs_760795257

2 SubmittersRCV001322552

NM_001277115.2(DNAH11):c.12052G>A (p.Val4018Ile)

SNV
Germline

Chr7:21873358

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182959

rs_578153138

2 SubmittersRCV001320446

NM_001277115.2(DNAH11):c.13112C>T (p.Pro4371Leu)

SNV
Germline

Chr7:21899398

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA366955402

rs_1238638659

3 SubmittersRCV001327342 RCV002493709 RCV004692515

NM_178452.6(DNAAF1):c.2083G>A (p.Ala695Thr)

SNV
Germline

Chr16:84177746

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8203161

rs_775618173

2 SubmittersRCV001317860

NM_017950.4(CCDC40):c.1067C>T (p.Ser356Leu)

SNV
Germline

Chr17:80050191

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8813674

rs_200448007

2 SubmittersRCV001314642

NM_001369.3(DNAH5):c.12907C>T (p.Gln4303Ter)

SNV
Unknown

Chr5:13716489

Pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359203525

rs_371030180

1 SubmittersRCV001328811

NM_001277115.2(DNAH11):c.3223C>T (p.Gln1075Ter)

SNV
Germline

Chr7:21600898

Pathogenic

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA366945375

rs_1785058598

2 SubmittersRCV001331863 RCV003652180

NM_001277115.2(DNAH11):c.8809G>A (p.Asp2937Asn)

SNV
Germline

Chr7:21750233

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4181756

rs_538735006

5 SubmittersRCV001333064 RCV001363910 RCV004692562

NM_001277115.2(DNAH11):c.11534G>T (p.Arg3845Leu)

SNV
Germline

Chr7:21866507

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366961902

rs_371438607

3 SubmittersRCV001331861 RCV001859287

NM_001277115.2(DNAH11):c.12992C>T (p.Thr4331Met)

SNV
Germline

Chr7:21894942

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4183241

rs_760795047

2 SubmittersRCV001331862 RCV003770838

NM_145038.5(DRC1):c.1009C>T (p.Gln337Ter)

SNV
Germline

Chr2:26440498

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia 21
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA346107187

rs_1435637520

2 SubmittersRCV003232034 RCV003534995

NM_001277115.2(DNAH11):c.3456G>A (p.Glu1152=)

SNV
Germline

Chr7:21601426

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA454139540

rs_761664847

2 SubmittersRCV001335805 RCV003652181

NM_001277115.2(DNAH11):c.5845C>T (p.Arg1949Ter)

SNV
Germline

Chr7:21687448

Pathogenic

Primary ciliary dyskinesia
DNAH11-related disorder
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA155116704

rs_372143147

5 SubmittersRCV002353303 RCV004738575 RCV005042813

NM_001270974.2(HYDIN):c.11638G>A (p.Asp3880Asn)

SNV
Germline

Chr16:70862187

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8148955

rs_199690569

2 SubmittersRCV001333897 RCV005243512

NM_017950.4(CCDC40):c.3184C>G (p.Leu1062Val)

SNV
Germline

Chr17:80099530

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 15
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8814666

rs_369522039

4 SubmittersRCV001333982 RCV002546665

NM_001034853.2(RPGR):c.1059+9A>G

SNV
Germline

ChrX:38301238

Conflicting classifications of pathogenicity

X-linked cone-rod dystrophy 1
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10385558

rs_781086486

2 SubmittersRCV001335254 RCV002546723

NM_001369.3(DNAH5):c.5552T>C (p.Phe1851Ser)

SNV
Germline

Chr5:13841063

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3203639

rs_368576880

3 SubmittersRCV001342060 RCV002486383

NM_001277115.2(DNAH11):c.938G>T (p.Ser313Ile)

SNV
Germline

Chr7:21561126

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366932138

rs_1388667729

2 SubmittersRCV001343596

NM_001277115.2(DNAH11):c.1513C>T (p.His505Tyr)

SNV
Germline

Chr7:21571893

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4179006

rs_771891040

3 SubmittersRCV001350495 RCV003485708

NM_001277115.2(DNAH11):c.3139G>A (p.Glu1047Lys)

SNV
Germline

Chr7:21600814

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA4179538

rs_77008420

3 SubmittersRCV001346444 RCV001655716 RCV004531142

NM_001277115.2(DNAH11):c.11695T>G (p.Phe3899Val)

SNV
Germline

Chr7:21867863

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182851

rs_751430515

2 SubmittersRCV001347552

NM_001277115.2(DNAH11):c.11872A>C (p.Lys3958Gln)

SNV
Germline

Chr7:21868896

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366962710

rs_1360840874

2 SubmittersRCV001351458

NM_001277115.2(DNAH11):c.12146C>T (p.Pro4049Leu)

SNV
Germline

Chr7:21873452

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366963325

rs_1428231658

2 SubmittersRCV001346943

NM_001277115.2(DNAH11):c.13132G>A (p.Gly4378Ser)

SNV
Germline

Chr7:21899418

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4183309

rs_374818694

3 SubmittersRCV001348144 RCV005423972

NM_178452.6(DNAAF1):c.1592C>T (p.Thr531Met)

SNV
Germline

Chr16:84172323

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8202929

rs_193291760

2 SubmittersRCV001343715

NM_178452.6(DNAAF1):c.2080G>A (p.Ala694Thr)

SNV
Germline

Chr16:84177743

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8203158

rs_376164700

2 SubmittersRCV001348531

NM_001277115.2(DNAH11):c.1987C>G (p.Pro663Ala)

SNV
Germline

Chr7:21589221

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179193

rs_546189940

2 SubmittersRCV001353364 RCV003538725

NM_001277115.2(DNAH11):c.7360G>T (p.Val2454Leu)

SNV
Germline

Chr7:21725904

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA4181203

rs_536942937

3 SubmittersRCV001357886 RCV003771047 RCV004690092

NM_000328.3(RPGR):c.2152T>C (p.Tyr718His)

SNV
Germline

ChrX:38273475

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10385081

rs_762173989

3 SubmittersRCV001357826 RCV003169771

NM_001369.3(DNAH5):c.6385G>C (p.Val2129Leu)

SNV
Germline

Chr5:13829569

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203420

rs_150095347

3 SubmittersRCV001360830

NM_001369.3(DNAH5):c.477C>T (p.Gly159=)

SNV
Germline

Chr5:13922290

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA113967166

rs_897766386

3 SubmittersRCV001372282 RCV003416291

NM_001277115.2(DNAH11):c.1974-3C>T

SNV
Germline

Chr7:21589205

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Respiratory ciliopathies including non-CF bronchiectasis

Criteria Provided
Conflicting Classifications

CA4179190

rs_761630483

2 SubmittersRCV001361657 RCV005416038

NM_001277115.2(DNAH11):c.2374A>C (p.Ile792Leu)

SNV
Germline

Chr7:21591284

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4179320

rs_762314534

3 SubmittersRCV001363692 RCV003485710

NM_001277115.2(DNAH11):c.5639C>A (p.Thr1880Asn)

SNV
Germline

Chr7:21687116

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366949040

rs_1245853002

1 SubmittersRCV001373747

NM_001277115.2(DNAH11):c.8821G>A (p.Asp2941Asn)

SNV
Germline

Chr7:21750245

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181759

rs_776368544

2 SubmittersRCV001374227

NM_012144.4(DNAI1):c.1109T>C (p.Leu370Pro)

SNV
Germline

Chr9:34506672

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5034300

rs_201677978

4 SubmittersRCV001366377 RCV001796464

NM_001034853.2(RPGR):c.2071G>T (p.Glu691Ter)

SNV
Germline

ChrX:38286928

Pathogenic/Likely pathogenic

Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412731522

rs_2147199844

2 SubmittersRCV001376511 RCV002550240

NM_001034853.2(RPGR):c.1754-3C>G

SNV
Germline

ChrX:38287248

Pathogenic

Retinitis pigmentosa 3
Primary ciliary dyskinesia
RPGR-related retinopathy

Reviewed By Expert Panel

CA412733107

rs_2147201026

3 SubmittersRCV001376287 RCV002550232 RCV005623428

NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter)

SNV
Germline

Chr5:13692085

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA3201246

rs_758112779

6 SubmittersRCV001376959 RCV002493914

NM_001369.3(DNAH5):c.13338+1G>C

SNV
Germline

Chr5:13708122

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA359196212

rs_1219958424

3 SubmittersRCV001379179

NM_001369.3(DNAH5):c.12909+2T>C

SNV
Germline

Chr5:13716485

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359203503

rs_2126503314

1 SubmittersRCV001378540

NM_001369.3(DNAH5):c.11761+2T>A

SNV
Germline

Chr5:13735129

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359222399

rs_2126606448

1 SubmittersRCV001376934

NM_001369.3(DNAH5):c.11570+2T>C

SNV
Germline

Chr5:13735816

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359224473

rs_2126610509

1 SubmittersRCV001379101

NM_001369.3(DNAH5):c.11028+1G>C

SNV
Germline

Chr5:13752133

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359189609

rs_2126694391

1 SubmittersRCV001378608

NM_001369.3(DNAH5):c.9897+1G>A

SNV
Germline

Chr5:13768959

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359201211

rs_914675446

1 SubmittersRCV001377187

NM_001369.3(DNAH5):c.6841+1G>C

SNV
Germline

Chr5:13820345

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359194647

rs_2151814082

1 SubmittersRCV001379561

NM_001369.3(DNAH5):c.6250-2A>G

SNV
Germline

Chr5:13829706

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359200505

rs_2151835519

1 SubmittersRCV001379932

NM_001369.3(DNAH5):c.4054-1G>A

SNV
Germline

Chr5:13866283

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359226974

rs_2151911687

1 SubmittersRCV001377082

NM_001369.3(DNAH5):c.1321-2A>G

SNV
Germline

Chr5:13913960

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359214666

rs_2151981226

1 SubmittersRCV001377584

NM_001277115.2(DNAH11):c.2671A>G (p.Asn891Asp)

SNV
Germline

Chr7:21599790

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366943676

rs_1354416117

1 SubmittersRCV001378520

NM_001277115.2(DNAH11):c.4254+1G>A

SNV
Germline

Chr7:21617778

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366952472

rs_2128453160

1 SubmittersRCV001378642

NM_001277115.2(DNAH11):c.4254+5G>C

SNV
Germline

Chr7:21617782

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA2499218849

rs_72657312

1 SubmittersRCV001377560

NM_012144.4(DNAI1):c.180+1G>T

SNV
Germline

Chr9:34485241

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373242245

rs_2132057443

1 SubmittersRCV001377638

NM_012144.4(DNAI1):c.681+1G>A

SNV
Germline

Chr9:34491555

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA5034146

rs_532919927

1 SubmittersRCV001378385

NM_012144.4(DNAI1):c.1063+1G>A

SNV
Germline

Chr9:34501182

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Kartagener syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA373254172

rs_1268770869

4 SubmittersRCV001378038 RCV005040238

NM_012144.4(DNAI1):c.1490-2A>G

SNV
Germline

Chr9:34513110

Likely pathogenic

Primary ciliary dyskinesia
Condition: not provided
Kartagener syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA5034431

rs_775831317

6 SubmittersRCV001378338 RCV001580155 RCV004796617

NM_012144.4(DNAI1):c.1490G>T (p.Gly497Val)

SNV
Germline

Chr9:34513112

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA192650684

rs_376252276

1 SubmittersRCV001379375

NM_012144.4(DNAI1):c.1718+1G>A

SNV
Germline

Chr9:34514543

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373264010

rs_2132084012

1 SubmittersRCV001376757

NM_012144.4(DNAI1):c.1818+1G>T

SNV
Germline

Chr9:34514740

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Kartagener syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA192651910

rs_904790792

3 SubmittersRCV001377875 RCV005050362

NM_023036.6(DNAI2):c.468-2A>G

SNV
Germline

Chr17:74289592

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA400905684

rs_2143940594

1 SubmittersRCV001377385

NM_145038.5(DRC1):c.427G>T (p.Glu143Ter)

SNV
Germline

Chr2:26424341

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA346099064

rs_1663226917

1 SubmittersRCV001388503

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_001369.3(DNAH5):c.12238G>T (p.Glu4080Ter)

SNV
Germline

Chr5:13721041

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359213277

rs_142761474

1 SubmittersRCV001390156

NM_001369.3(DNAH5):c.10825C>T (p.Gln3609Ter)

SNV
Germline

Chr5:13753280

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA3202132

rs_749980719

2 SubmittersRCV001385303 RCV005038195

NM_001369.3(DNAH5):c.9877G>T (p.Glu3293Ter)

SNV
Germline

Chr5:13768980

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359201339

rs_2126775977

1 SubmittersRCV001386219

NM_001369.3(DNAH5):c.9799C>T (p.Gln3267Ter)

SNV
Germline

Chr5:13769058

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA359201959

rs_923842695

3 SubmittersRCV001389475

NM_001369.3(DNAH5):c.9399T>A (p.Tyr3133Ter)

SNV
Germline

Chr5:13770955

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359205312

rs_1753258436

1 SubmittersRCV001382450

NM_001369.3(DNAH5):c.9280A>T (p.Lys3094Ter)

SNV
Germline

Chr5:13776532

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359208558

rs_2126810319

1 SubmittersRCV001387064

NM_001369.3(DNAH5):c.8821-1G>T

SNV
Germline

Chr5:13780960

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359213002

rs_1060501454

1 SubmittersRCV001389949

NM_001369.3(DNAH5):c.8250T>A (p.Cys2750Ter)

SNV
Germline

Chr5:13792192

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359219735

rs_2126901167

1 SubmittersRCV001385491

NM_001369.3(DNAH5):c.7821T>G (p.Tyr2607Ter)

SNV
Germline

Chr5:13807657

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359228212

rs_2126996872

1 SubmittersRCV001390675

NM_001369.3(DNAH5):c.7616G>A (p.Trp2539Ter)

SNV
Germline

Chr5:13809180

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359231069

rs_2127007326

1 SubmittersRCV001389501

NM_001369.3(DNAH5):c.7407+1G>A

SNV
Germline

Chr5:13811646

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Condition: not provided
DNAH5-related disorder
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA3203105

rs_749711805

5 SubmittersRCV001386279 RCV002259391 RCV003898365 RCV005232305

NM_001369.3(DNAH5):c.5883-1G>C

SNV
Germline

Chr5:13830776

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359203215

rs_1195745037

1 SubmittersRCV001382794

NM_001369.3(DNAH5):c.5883-1G>A

SNV
Germline

Chr5:13830776

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA359203217

rs_1195745037

3 SubmittersRCV001382388 RCV005040250

NM_001369.3(DNAH5):c.5769C>G (p.Tyr1923Ter)

SNV
Germline

Chr5:13839469

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359206977

rs_2151857318

1 SubmittersRCV001381691

NM_001369.3(DNAH5):c.4596+1G>T

SNV
Germline

Chr5:13864396

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359223527

rs_2151908362

1 SubmittersRCV001385978

NM_001369.3(DNAH5):c.4201C>T (p.Gln1401Ter)

SNV
Germline

Chr5:13865822

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359225329

rs_1341570153

1 SubmittersRCV001380903

NM_001369.3(DNAH5):c.4084C>T (p.Gln1362Ter)

SNV
Germline

Chr5:13866252

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359226371

rs_1210217648

1 SubmittersRCV001389483

NM_001369.3(DNAH5):c.3529C>T (p.Gln1177Ter)

SNV
Germline

Chr5:13871633

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA113982083

rs_1050312639

1 SubmittersRCV001388131

NM_001369.3(DNAH5):c.2752G>T (p.Glu918Ter)

SNV
Germline

Chr5:13885220

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359195893

rs_2151941841

1 SubmittersRCV001382108

NM_001369.3(DNAH5):c.2660T>A (p.Leu887Ter)

SNV
Germline

Chr5:13886047

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359196463

rs_2151943036

1 SubmittersRCV001388278

NM_001369.3(DNAH5):c.1326C>G (p.Tyr442Ter)

SNV
Germline

Chr5:13913953

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359214631

rs_1291311803

1 SubmittersRCV001382991

NM_001369.3(DNAH5):c.985G>T (p.Glu329Ter)

SNV
Germline

Chr5:13917247

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359218212

rs_2151986932

1 SubmittersRCV001390018

NM_001369.3(DNAH5):c.980G>A (p.Trp327Ter)

SNV
Germline

Chr5:13917252

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359218234

rs_1776744623

1 SubmittersRCV001384734

NM_001369.3(DNAH5):c.768C>A (p.Cys256Ter)

SNV
Germline

Chr5:13920510

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359220354

rs_2151992604

1 SubmittersRCV001385023

NM_001010892.3(RSPH4A):c.1558C>T (p.Arg520Ter)

SNV
Germline

Chr6:116628265

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA3970971

rs_767646489

2 SubmittersRCV001381360 RCV003987856

NM_001206927.2(DNAH8):c.2919G>A (p.Trp973Ter)

SNV
Germline

Chr6:38803196

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3788672

rs_767180208

1 SubmittersRCV001389130

NM_001206927.2(DNAH8):c.5635C>T (p.Gln1879Ter)

SNV
Germline

Chr6:38853249

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA364015350

rs_1297488496

1 SubmittersRCV001383007

NM_001206927.2(DNAH8):c.9898A>T (p.Lys3300Ter)

SNV
Germline

Chr6:38913887

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA364005382

rs_2150536009

1 SubmittersRCV001389347

NM_001206927.2(DNAH8):c.12496C>T (p.Arg4166Ter)

SNV
Germline

Chr6:38971636

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3791360

rs_150428096

1 SubmittersRCV001386442

NM_001277115.2(DNAH11):c.5218C>T (p.Gln1740Ter)

SNV
Germline

Chr7:21658921

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA155090771

rs_958055112

1 SubmittersRCV001386176

NM_001277115.2(DNAH11):c.5924+2T>A

SNV
Germline

Chr7:21687529

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366949891

rs_2128474056

1 SubmittersRCV001389747

NM_001277115.2(DNAH11):c.9478C>T (p.Arg3160Ter)

SNV
Germline

Chr7:21779099

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366937854

rs_1787819788

1 SubmittersRCV001386959

NM_001277115.2(DNAH11):c.11188C>T (p.Gln3730Ter)

SNV
Germline

Chr7:21854441

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366960238

rs_2128025477

1 SubmittersRCV001380343

NM_001277115.2(DNAH11):c.11521C>T (p.Arg3841Ter)

SNV
Germline

Chr7:21866494

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA366961876

rs_988794959

4 SubmittersRCV001387359 RCV002469391 RCV005038201

NM_012144.4(DNAI1):c.458T>A (p.Leu153Ter)

SNV
Germline

Chr9:34490081

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373246055

rs_2132061817

1 SubmittersRCV001384782

NM_012144.4(DNAI1):c.859G>T (p.Glu287Ter)

SNV
Germline

Chr9:34497157

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373251057

rs_1290572246

1 SubmittersRCV001389846

NM_178452.6(DNAAF1):c.922C>T (p.Gln308Ter)

SNV
Germline

Chr16:84165841

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA8202662

rs_372303284

1 SubmittersRCV001381191

NM_023036.6(DNAI2):c.21C>G (p.Tyr7Ter)

SNV
Germline

Chr17:74281838

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA400911610

rs_764381446

1 SubmittersRCV001387980

NM_023036.6(DNAI2):c.732G>A (p.Trp244Ter)

SNV
Germline

Chr17:74299725

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA400907951

rs_2144026301

1 SubmittersRCV001382308

NM_023036.6(DNAI2):c.739C>T (p.Arg247Ter)

SNV
Germline

Chr17:74299732

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 9

Criteria Provided
Multiple Submitters
No Conflicts

CA8745480

rs_545536618

3 SubmittersRCV001389419 RCV005014546

NM_017950.4(CCDC40):c.3349G>T (p.Glu1117Ter)

SNV
Germline

Chr17:80099695

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA401358103

rs_145595957

1 SubmittersRCV001389986

NM_012144.4(DNAI1):c.81+61A>G

SNV
Germline

Chr9:34483541

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA192625894

rs_192896482

3 SubmittersRCV001751757 RCV001409404

NM_001369.3(DNAH5):c.9999A>G (p.Lys3333=)

SNV
Germline

Chr5:13766078

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA113928101

rs_1038607014

2 SubmittersRCV001469217

NM_001369.3(DNAH5):c.7734C>T (p.Thr2578=)

SNV
Germline

Chr5:13809062

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA443272352

rs_1222953554

2 SubmittersRCV001478072 RCV005038237

NM_001277115.2(DNAH11):c.3412T>C (p.Phe1138Leu)

SNV
Germline

Chr7:21601166

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4179609

rs_200099996

3 SubmittersRCV001476334 RCV005232346

NM_001277115.2(DNAH11):c.11042T>C (p.Val3681Ala)

SNV
Germline

Chr7:21852612

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA4182582

rs_372733227

4 SubmittersRCV001463887 RCV003485718 RCV004540381

NM_001034853.2(RPGR):c.1170T>G (p.Phe390Leu)

SNV
Germline

ChrX:38299031

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10385527

rs_765979499

2 SubmittersRCV001478119

NM_001369.3(DNAH5):c.11556C>T (p.Asp3852=)

SNV
Germline

Chr5:13735832

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3201929

rs_745961446

2 SubmittersRCV001487905 RCV004571027

NM_001369.3(DNAH5):c.2047C>A (p.Arg683=)

SNV
Germline

Chr5:13901257

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA443536650

rs_182512638

2 SubmittersRCV001499760 RCV003438839

NM_003611.3(OFD1):c.494C>T (p.Ser165Leu)

SNV
Germline

ChrX:13744496

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Joubert syndrome 10
Simpson-Golabi-Behmel syndrome type 2
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351619

rs_756793358

3 SubmittersRCV001517035 RCV002501798 RCV004037941

NM_003611.3(OFD1):c.1742G>A (p.Cys581Tyr)

SNV
Germline

ChrX:13760202

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia
OFD1-related disorder

Criteria Provided
Conflicting Classifications

CA10351884

rs_201230660

3 SubmittersRCV001521664 RCV004037954 RCV004738329

NM_001034853.2(RPGR):c.30T>A (p.Asp10Glu)

SNV
Germline

ChrX:38323523

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10385740

rs_202156474

3 SubmittersRCV001510468 RCV002464458

NM_001277115.2(DNAH11):c.11352C>A (p.Phe3784Leu)

SNV
Germline

Chr7:21862002

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182711

rs_553539918

2 SubmittersRCV001647328 RCV003653480

NM_001369.3(DNAH5):c.1396G>A (p.Glu466Lys)

SNV
Germline

Chr5:13913883

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204864

rs_377439232

2 SubmittersRCV001532033 RCV002568200

NM_017802.4(DNAAF5):c.1866C>T (p.Arg622=)

SNV
Germline

Chr7:770553

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4110956

rs_754316026

3 SubmittersRCV001532570 RCV002071908

NM_001034853.2(RPGR):c.415G>A (p.Glu139Lys)

SNV
Germline

ChrX:38318883

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10385663

rs_62638645

3 SubmittersRCV001531769 RCV002071900

NM_001277115.2(DNAH11):c.4951T>C (p.Cys1651Arg)

SNV
Germline

Chr7:21655838

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180253

rs_374946621

3 SubmittersRCV001536578 RCV001873804

NM_001369.3(DNAH5):c.2052+1G>T

SNV
Germline

Chr5:13901251

Likely pathogenic

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA359204672

rs_1774569455

3 SubmittersRCV001543668 RCV002421183

NM_001369.3(DNAH5):c.1114A>G (p.Thr372Ala)

SNV
Germline

Chr5:13916431

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
Condition: not provided
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA3204949

rs_140227610

7 SubmittersRCV001543694 RCV002071964 RCV004774458 RCV004743545

NM_003114.5(SPAG1):c.2089C>T (p.Arg697Ter)

SNV
Germline

Chr8:100233511

Pathogenic

Condition: not provided
Primary ciliary dyskinesia 28

Criteria Provided
Multiple Submitters
No Conflicts

CA371815883

rs_1434601711

2 SubmittersRCV001548503 RCV002568301

NM_018139.3(DNAAF2):c.26C>A (p.Ser9Ter)

SNV
Germline

Chr14:49635124

Pathogenic

Primary ciliary dyskinesia 10

No Assertion Criteria Provided

CA260670421

rs_867153082

1 SubmittersRCV001549290

NM_018139.3(DNAAF2):c.156C>A (p.Tyr52Ter)

SNV
Germline

Chr14:49634994

Pathogenic

Primary ciliary dyskinesia 10

No Assertion Criteria Provided

CA389632483

rs_2139584419

1 SubmittersRCV001549291

NM_001369.3(DNAH5):c.9919G>A (p.Ala3307Thr)

SNV
Germline

Chr5:13766158

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202377

rs_757212818

2 SubmittersRCV001563798 RCV002568426

NM_001369.3(DNAH5):c.7309C>G (p.Arg2437Gly)

SNV
Germline

Chr5:13811745

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203125

rs_201469471

4 SubmittersRCV001563725 RCV002072147

NM_001369.3(DNAH5):c.4016T>G (p.Leu1339Arg)

SNV
Germline

Chr5:13867811

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204116

rs_367816483

3 SubmittersRCV001563726 RCV001882660

NM_001369.3(DNAH5):c.2867G>A (p.Arg956His)

SNV
Germline

Chr5:13885105

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204465

rs_752260329

2 SubmittersRCV001563729 RCV001882661

NM_001369.3(DNAH5):c.972G>A (p.Leu324=)

SNV
Germline

Chr5:13919179

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3205022

rs_757404057

2 SubmittersRCV001563799 RCV002568427

NM_001270974.2(HYDIN):c.9223C>T (p.Arg3075Cys)

SNV
Germline

Chr16:70894474

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia 5

Criteria Provided
Conflicting Classifications

CA8149576

rs_199706377

6 SubmittersRCV001573289 RCV002282565

NM_001369.3(DNAH5):c.7573G>A (p.Gly2525Arg)

SNV
Germline

Chr5:13810095

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203071

rs_771328747

2 SubmittersRCV001580359

NM_001277115.2(DNAH11):c.6118C>T (p.Arg2040Cys)

SNV
Germline

Chr7:21698151

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180691

rs_199772877

3 SubmittersRCV001580361

NM_001034853.2(RPGR):c.2863T>G (p.Trp955Gly)

SNV
Germline

ChrX:38286136

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10385242

rs_765224300

4 SubmittersRCV001609128 RCV002539559

NM_001034853.2(RPGR):c.2218G>T (p.Glu740Ter)

SNV
Germline

ChrX:38286781

Pathogenic

Condition: not provided
Retinitis pigmentosa 3
Primary ciliary dyskinesia
RPGR-related retinopathy

Reviewed By Expert Panel

CA327916189

rs_983693027

6 SubmittersRCV001682656 RCV002246455 RCV002538608 RCV005623439

NM_001034853.2(RPGR):c.2801A>G (p.Glu934Gly)

SNV
Germline

ChrX:38286198

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA10385247

rs_751314374

4 SubmittersRCV001694771 RCV002538612 RCV004815590

NM_152732.5(RSPH9):c.2T>C (p.Met1Thr)

SNV
Germline

Chr6:43645100

Pathogenic

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA364286815

rs_1395940101

3 SubmittersRCV001723457 RCV003538815

NM_001277115.2(DNAH11):c.10055C>T (p.Thr3352Met)

SNV
Germline

Chr7:21801165

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182219

rs_369182142

3 SubmittersRCV001730129 RCV002539787

NM_178821.3(DAW1):c.1116G>T (p.Trp372Cys)

SNV
Germline

Chr2:227921464

Pathogenic

Primary ciliary dyskinesia
Ciliary dyskinesia, primary, 52

No Assertion Criteria Provided

CA350882445

rs_1435687311

2 SubmittersRCV002246112 RCV003389345

NM_178821.3(DAW1):c.197T>A (p.Leu66Ter)

SNV
Germline

Chr2:227889939

Pathogenic

Primary ciliary dyskinesia
Ciliary dyskinesia, primary, 52

No Assertion Criteria Provided

CA2149640

rs_747333172

2 SubmittersRCV002246111 RCV003389344

NM_178821.3(DAW1):c.1091G>C (p.Ser364Thr)

SNV
Germline

Chr2:227921439

Pathogenic

Primary ciliary dyskinesia
Ciliary dyskinesia, primary, 52

No Assertion Criteria Provided

CA2149990

rs_541693633

2 SubmittersRCV002246110 RCV003389343

NM_178821.3(DAW1):c.357G>A (p.Trp119Ter)

SNV
Germline

Chr2:227893834

Pathogenic

Ciliary dyskinesia, primary, 52
Primary ciliary dyskinesia

No Assertion Criteria Provided

CA350879667

rs_2106197058

2 SubmittersRCV003389342 RCV002246109

NM_178821.3(DAW1):c.427A>G (p.Asn143Asp)

SNV
Germline

Chr2:227893904

Pathogenic

Primary ciliary dyskinesia
Ciliary dyskinesia, primary, 52

No Assertion Criteria Provided

CA350879814

rs_1265774517

2 SubmittersRCV002246108 RCV003389341

NM_003611.3(OFD1):c.2223A>G (p.Lys741=)

SNV
Germline

ChrX:13760683

Conflicting classifications of pathogenicity

Condition: not provided
Orofaciodigital syndrome I
Joubert syndrome
Primary ciliary dyskinesia
OFD1-related disorder

Criteria Provided
Conflicting Classifications

CA515624183

rs_1355239331

4 SubmittersRCV001758295 RCV002077186 RCV004040083 RCV004738366

NM_001277115.2(DNAH11):c.11275A>G (p.Ile3759Val)

SNV
Germline

Chr7:21861925

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366961320

rs_1247510142

2 SubmittersRCV001752261 RCV002543969

NM_001277115.2(DNAH11):c.9017C>T (p.Thr3006Met)

SNV
Germline

Chr7:21765504

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181820

rs_537395849

4 SubmittersRCV001752300 RCV002074004

NM_003611.3(OFD1):c.656T>G (p.Leu219Trp)

SNV
Germline

ChrX:13746781

Conflicting classifications of pathogenicity

Condition: not provided
Orofaciodigital syndrome I
Joubert syndrome
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351669

rs_780055525

3 SubmittersRCV001771053 RCV001861107 RCV004040147

NM_001277115.2(DNAH11):c.6005G>A (p.Arg2002Gln)

SNV
Germline

Chr7:21690845

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180634

rs_755849132

3 SubmittersRCV001760579 RCV003771963

NM_017950.4(CCDC40):c.1520A>T (p.Lys507Met)

SNV
Germline

Chr17:80065564

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 15

Criteria Provided
Conflicting Classifications

CA8813871

rs_563467821

4 SubmittersRCV001770798 RCV002388642 RCV003146231

NM_001277115.2(DNAH11):c.9044C>T (p.Pro3015Leu)

SNV
Germline

Chr7:21765531

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181828

rs_749849152

3 SubmittersRCV001765603 RCV003163859

NM_023036.6(DNAI2):c.740G>A (p.Arg247Gln)

SNV
Germline

Chr17:74299733

Pathogenic/Likely pathogenic

Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 9

Criteria Provided
Multiple Submitters
No Conflicts

CA8745481

rs_755060592

4 SubmittersRCV001755147 RCV002539154 RCV004813185

NM_001277115.2(DNAH11):c.7169C>T (p.Pro2390Leu)

SNV
Germline

Chr7:21720759

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366943701

rs_1395315449

2 SubmittersRCV001755187 RCV003647856

NM_001369.3(DNAH5):c.9088G>C (p.Val3030Leu)

SNV
Germline

Chr5:13777219

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202628

rs_772987380

2 SubmittersRCV001773404 RCV002540590

NM_001364171.2(ODAD1):c.742C>T (p.Gln248Ter)

SNV
Germline

Chr19:48304064

Pathogenic

Primary ciliary dyskinesia 20

Criteria Provided
Single Submitter

CA406662106

rs_1174052172

1 SubmittersRCV001780457

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_001270974.2(HYDIN):c.8008C>T (p.Gln2670Ter)

SNV
Germline

Chr16:70908858

Pathogenic

Primary ciliary dyskinesia 5

Criteria Provided
Single Submitter

CA396614729

rs_2143778936

1 SubmittersRCV001783446

NM_001270974.2(HYDIN):c.3175C>T (p.Arg1059Ter)

SNV
Germline

Chr16:71025394

Pathogenic

Primary ciliary dyskinesia 5

Criteria Provided
Single Submitter

CA283523855

rs_916834956

1 SubmittersRCV001783448

NM_018076.5(ODAD2):c.576-2A>T

SNV
Germline

Chr10:27984292

Likely pathogenic

Primary ciliary dyskinesia 23

Criteria Provided
Single Submitter

CA5453772

rs_149274011

1 SubmittersRCV001784794

NM_003114.5(SPAG1):c.742C>T (p.Arg248Ter)

SNV
Germline

Chr8:100187160

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA4827351

rs_770777381

1 SubmittersRCV002386562

NM_018076.5(ODAD2):c.2799+1G>A

SNV
Germline

Chr10:27862433

Likely pathogenic

Primary ciliary dyskinesia 23

Criteria Provided
Single Submitter

rs_2133342065

1 SubmittersRCV005396371

NM_001364171.2(ODAD1):c.448C>T (p.Arg150Ter)

SNV
Germline

Chr19:48312029

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia 20
Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA9549048

rs_752269093

6 SubmittersRCV001780729 RCV001849571 RCV005005283

NM_145045.5(ODAD3):c.423C>A (p.Tyr141Ter)

SNV
Germline

Chr19:11430720

Likely pathogenic

Primary ciliary dyskinesia 30

Criteria Provided
Single Submitter

CA404126681

rs_2144780130

1 SubmittersRCV001780730

NM_001256715.2(DNAAF3):c.901C>T (p.Gln301Ter)

SNV
Germline

Chr19:55161076

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia 2
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA407452085

rs_2085819579

2 SubmittersRCV001780967 RCV002440873

NM_001256714.1(DNAAF3):c.23C>A (p.Ser8Ter)

SNV
Germline

Chr19:55166626

Likely pathogenic

Primary ciliary dyskinesia 2

Criteria Provided
Single Submitter

CA9668329

rs_779603085

1 SubmittersRCV001780969

NM_001277115.2(DNAH11):c.3256-2A>C

SNV
Germline

Chr7:21601008

Likely pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA366945460

rs_2128447056

2 SubmittersRCV001780972

NM_001277115.2(DNAH11):c.8511-1G>C

SNV
Germline

Chr7:21748579

Likely pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

CA366955032

rs_2128492584

1 SubmittersRCV001780974

NM_001369.3(DNAH5):c.4597-1G>A

SNV
Germline

Chr5:13862748

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359222759

rs_2151905981

1 SubmittersRCV001780975

NM_001270974.2(HYDIN):c.9397C>T (p.Gln3133Ter)

SNV
Germline

Chr16:70892381

Likely pathogenic

Primary ciliary dyskinesia 5

Criteria Provided
Single Submitter

CA8149514

rs_753701495

1 SubmittersRCV001782278

NM_031924.8(RSPH3):c.-273G>T

SNV
Germline

Chr6:158999823

Pathogenic

Primary ciliary dyskinesia 32

Criteria Provided
Single Submitter

CA4076093

rs_767979912

1 SubmittersRCV003756292

NM_031421.5(ODAD4):c.316C>T (p.Arg106Ter)

SNV
Germline

Chr17:41935668

Likely pathogenic

Primary ciliary dyskinesia 35

Criteria Provided
Single Submitter

CA290708681

rs_868938106

1 SubmittersRCV001783924

NM_001277115.2(DNAH11):c.12933+1G>A

SNV
Germline

Chr7:21894806

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA155106017

rs_371022970

2 SubmittersRCV001795614

NM_001010892.3(RSPH4A):c.1631G>A (p.Trp544Ter)

SNV
Unknown

Chr6:116628338

Pathogenic

Primary ciliary dyskinesia 11

Criteria Provided
Single Submitter

CA365407192

rs_2115362674

1 SubmittersRCV001801327

NM_017802.4(DNAAF5):c.1471-12G>A

SNV
Germline

Chr7:761741

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4110757

rs_370817681

2 SubmittersRCV001806629 RCV002077244

NM_001369.3(DNAH5):c.4924G>A (p.Gly1642Arg)

SNV
Germline

Chr5:13859478

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203846

rs_150050027

5 SubmittersRCV001804225 RCV002221686 RCV002542373

NM_001369.3(DNAH5):c.4442C>T (p.Pro1481Leu)

SNV
Germline

Chr5:13864551

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203977

rs_144958262

4 SubmittersRCV001804233 RCV002221687 RCV002542374

NM_012144.4(DNAI1):c.1216G>A (p.Gly406Ser)

SNV
Germline

Chr9:34506779

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
See cases
Kartagener syndrome

Criteria Provided
Conflicting Classifications

CA5034323

rs_769177784

4 SubmittersRCV001814805 RCV002287508 RCV004584449 RCV005040392

NM_001369.3(DNAH5):c.8032C>T (p.Gln2678Ter)

SNV
Germline

Chr5:13793707

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA113961993

rs_988596344

3 SubmittersRCV001869647 RCV001815937 RCV005038338

NM_003611.3(OFD1):c.2726G>A (p.Arg909Gln)

SNV
Germline

ChrX:13767253

Conflicting classifications of pathogenicity

not specified
Orofaciodigital syndrome I
Joubert syndrome
Joubert syndrome 10
Orofaciodigital syndrome I
Simpson-Golabi-Behmel syndrome type 2
Retinitis pigmentosa 23
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10352070

rs_371848382

4 SubmittersRCV001817300 RCV002074279 RCV005040396 RCV004040963

NM_001277115.2(DNAH11):c.5247G>A (p.Trp1749Ter)

SNV
Germline

Chr7:21658950

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA366939977

rs_2128465955

2 SubmittersRCV001824249 RCV002542758

NM_080860.4(RSPH1):c.637C>T (p.Gln213Ter)

SNV
Germline

Chr21:42477381

Likely pathogenic

Primary ciliary dyskinesia 24

Criteria Provided
Single Submitter

CA10043857

rs_146298259

1 SubmittersRCV001824266

NM_001369.3(DNAH5):c.6988+2T>C

SNV
Germline

Chr5:13817546

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359192391

rs_2151806960

2 SubmittersRCV001849586

NM_001369.3(DNAH5):c.1731-2A>T

SNV
Germline

Chr5:13901575

Likely pathogenic

Primary ciliary dyskinesia

No Assertion Criteria Provided

CA359207563

rs_2151963411

1 SubmittersRCV001849587

NM_001369.3(DNAH5):c.4117-2A>G

SNV
Germline

Chr5:13865908

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359225886

rs_1467301649

2 SubmittersRCV001849588

NM_001369.3(DNAH5):c.12009G>A (p.Trp4003Ter)

SNV
Germline

Chr5:13727531

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA359217792

rs_2126564103

3 SubmittersRCV001849589 RCV002503344

NM_178452.6(DNAAF1):c.831C>G (p.Tyr277Ter)

SNV
Germline

Chr16:84159764

Likely pathogenic

Primary ciliary dyskinesia

No Assertion Criteria Provided

CA396945200

rs_1396269749

1 SubmittersRCV001849596

NM_178452.6(DNAAF1):c.778C>T (p.Gln260Ter)

SNV
Germline

Chr16:84159711

Pathogenic

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA396945014

rs_2087613070

3 SubmittersRCV001849597 RCV003228004

NM_173494.2(DNAAF6):c.332+1G>A

SNV
Unknown

ChrX:107218970

Likely pathogenic

Primary ciliary dyskinesia

No Assertion Criteria Provided

CA413888370

rs_2147829163

1 SubmittersRCV001849599

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_017950.4(CCDC40):c.1093G>T (p.Glu365Ter)

SNV
Germline

Chr17:80050217

Likely pathogenic

Primary ciliary dyskinesia

No Assertion Criteria Provided

CA401355734

rs_1434356376

1 SubmittersRCV001849605

NM_017950.4(CCDC40):c.3358C>T (p.Gln1120Ter)

SNV
Germline

Chr17:80099704

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA401358123

rs_2143789412

2 SubmittersRCV001849606

NM_017950.4(CCDC40):c.93+2T>C

SNV
Germline

Chr17:80038188

Likely pathogenic

Primary ciliary dyskinesia

No Assertion Criteria Provided

CA401345508

rs_2037179047

1 SubmittersRCV001849607

NM_001271049.2(CFAP221):c.2318+1G>A

SNV
Germline

Chr2:119647051

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Young syndrome

No Assertion Criteria Provided

CA348160191

rs_759274091

2 SubmittersRCV001849699 RCV005437954

NM_001378189.1(CFAP57):c.1762C>T (p.Arg588Ter)

SNV
Germline

Chr1:43209749

Likely pathogenic

Primary ciliary dyskinesia

No Assertion Criteria Provided

CA804774

rs_369556067

1 SubmittersRCV001849739

NM_001369.3(DNAH5):c.11571-1G>A

SNV
Germline

Chr5:13735322

Pathogenic

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA359223783

rs_1481337703

2 SubmittersRCV001849888 RCV001885424

NM_001369.3(DNAH5):c.12397G>T (p.Glu4133Ter)

SNV
Germline

Chr5:13718984

Pathogenic

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA359210417

rs_376372961

2 SubmittersRCV001849891 RCV001885425

NM_017950.4(CCDC40):c.2216G>A (p.Arg739Gln)

SNV
Germline

Chr17:80084969

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8814133

rs_774558527

2 SubmittersRCV002047744

NM_017802.4(DNAAF5):c.718G>A (p.Gly240Arg)

SNV
Germline

Chr7:729785

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4110409

rs_142141660

2 SubmittersRCV001927370

NM_017950.4(CCDC40):c.901C>T (p.Arg301Ter)

SNV
Germline

Chr17:80049951

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA8813609

rs_201223986

1 SubmittersRCV001867529

NM_001369.3(DNAH5):c.12500-1G>A

SNV
Germline

Chr5:13717521

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359208538

rs_1744470051

1 SubmittersRCV001920562

NM_001277115.2(DNAH11):c.5329-2A>G

SNV
Germline

Chr7:21681544

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA155110337

rs_932177093

1 SubmittersRCV002034204

NM_001010892.3(RSPH4A):c.2135A>G (p.Glu712Gly)

SNV
Germline

Chr6:116632425

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3971123

rs_765412618

2 SubmittersRCV001880601

NM_001206927.2(DNAH8):c.5251C>T (p.Arg1751Ter)

SNV
Germline

Chr6:38850302

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3789331

rs_201568629

1 SubmittersRCV001924917

NM_001369.3(DNAH5):c.5926G>T (p.Gly1976Ter)

SNV
Germline

Chr5:13830732

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3203525

rs_751690064

1 SubmittersRCV001902763

NM_001277115.2(DNAH11):c.793C>T (p.Arg265Cys)

SNV
Germline

Chr7:21559703

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178780

rs_769397639

2 SubmittersRCV002049016

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_001369.3(DNAH5):c.7288G>T (p.Glu2430Ter)

SNV
Germline

Chr5:13811766

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359189471

rs_575491117

1 SubmittersRCV001958053

NM_001369.3(DNAH5):c.5827C>T (p.Gln1943Ter)

SNV
Germline

Chr5:13839411

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359206459

rs_2151857133

1 SubmittersRCV001974937

NM_001277115.2(DNAH11):c.10967G>A (p.Arg3656His)

SNV
Germline

Chr7:21852537

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182564

rs_765797284

2 SubmittersRCV001989211

NM_001277115.2(DNAH11):c.4805A>G (p.Asp1602Gly)

SNV
Germline

Chr7:21637690

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180165

rs_548213797

2 SubmittersRCV001877179

NM_001034853.2(RPGR):c.308C>T (p.Thr103Ile)

SNV
Germline

ChrX:38321029

Likely pathogenic

Primary ciliary dyskinesia
RPGR-related retinopathy

Reviewed By Expert Panel

CA412745351

rs_2147285611

2 SubmittersRCV001867282 RCV005415477

NM_003611.3(OFD1):c.1205G>A (p.Arg402His)

SNV
Germline

ChrX:13755226

Conflicting classifications of pathogenicity

Orofaciodigital syndrome I
Joubert syndrome
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA412342432

rs_1283023888

2 SubmittersRCV001892845 RCV004822950

NM_015512.5(DNAH1):c.6212T>G (p.Leu2071Arg)

SNV
Germline

Chr3:52370183

Conflicting classifications of pathogenicity

Spermatogenic failure 18
Ciliary dyskinesia, primary, 37
Spermatogenic failure 18
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA2434454

rs_757396103

4 SubmittersRCV002012666 RCV004796699 RCV005361900

NM_001369.3(DNAH5):c.4597-1G>T

SNV
Germline

Chr5:13862748

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359222765

rs_2151905981

1 SubmittersRCV002015486

NM_017950.4(CCDC40):c.1159+3A>T

SNV
Germline

Chr17:80050286

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA628017835

rs_1185054167

1 SubmittersRCV002028558

NM_012144.4(DNAI1):c.261+2T>G

SNV
Germline

Chr9:34485519

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373242777

rs_1266767011

1 SubmittersRCV002036637

NM_001369.3(DNAH5):c.8225-2A>G

SNV
Germline

Chr5:13792219

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359219887

rs_2126901340

1 SubmittersRCV002050355

NM_001369.3(DNAH5):c.6757A>T (p.Arg2253Ter)

SNV
Germline

Chr5:13820430

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359194849

rs_2151814381

1 SubmittersRCV001894259

NM_001369.3(DNAH5):c.13798G>A (p.Ala4600Thr)

SNV
Germline

Chr5:13692061

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201237

rs_774279588

2 SubmittersRCV001878673

NM_001277115.2(DNAH11):c.13096C>T (p.Gln4366Ter)

SNV
Germline

Chr7:21899382

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366955338

rs_748084362

1 SubmittersRCV001881437

NM_001369.3(DNAH5):c.9379G>T (p.Glu3127Ter)

SNV
Germline

Chr5:13770975

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA113933156

rs_758303032

1 SubmittersRCV001994566

NM_001277115.2(DNAH11):c.643C>T (p.Pro215Ser)

SNV
Germline

Chr7:21558949

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA155074492

rs_995773912

2 SubmittersRCV001991090

NM_001277115.2(DNAH11):c.5413A>G (p.Ile1805Val)

SNV
Germline

Chr7:21681630

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4180398

rs_776549742

3 SubmittersRCV002021975 RCV002484915

NM_001277115.2(DNAH11):c.10379C>T (p.Thr3460Met)

SNV
Germline

Chr7:21816513

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182349

rs_573384750

2 SubmittersRCV002040668

NM_001277115.2(DNAH11):c.8444T>G (p.Leu2815Ter)

SNV
Germline

Chr7:21744997

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366954196

rs_1293819249

1 SubmittersRCV001933457

NM_001277115.2(DNAH11):c.9896G>C (p.Trp3299Ser)

SNV
Germline

Chr7:21787555

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA4182143

rs_758224118

1 SubmittersRCV001949793

NM_001369.3(DNAH5):c.1933C>T (p.Gln645Ter)

SNV
Germline

Chr5:13901371

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359205386

rs_2151962965

1 SubmittersRCV001929586

NM_001369.3(DNAH5):c.6453T>A (p.Tyr2151Ter)

SNV
Germline

Chr5:13824325

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359198099

rs_2151824052

1 SubmittersRCV001941638

NM_001277115.2(DNAH11):c.7273G>C (p.Asp2425His)

SNV
Germline

Chr7:21725817

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181178

rs_374151422

2 SubmittersRCV001871344

NM_012144.4(DNAI1):c.530T>A (p.Leu177Ter)

SNV
Germline

Chr9:34490397

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Kartagener syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA5034097

rs_749302505

2 SubmittersRCV001978710 RCV005361853

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_001369.3(DNAH5):c.3184C>T (p.Gln1062Ter)

SNV
Germline

Chr5:13882806

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359192460

rs_1440167859

1 SubmittersRCV001921110

NM_001277115.2(DNAH11):c.6500G>A (p.Arg2167Gln)

SNV
Germline

Chr7:21705491

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180846

rs_760400353

2 SubmittersRCV001953255

NM_001369.3(DNAH5):c.1569C>G (p.Tyr523Ter)

SNV
Germline

Chr5:13911461

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359212040

rs_2151977768

1 SubmittersRCV001960454

NM_023036.6(DNAI2):c.1494C>T (p.Ser498=)

SNV
Germline

Chr17:74310163

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8745790

rs_761516740

2 SubmittersRCV002033913

NM_001369.3(DNAH5):c.8000G>A (p.Trp2667Ter)

SNV
Germline

Chr5:13793946

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359221788

rs_1757433662

1 SubmittersRCV001900048

NM_001369.3(DNAH5):c.8386G>C (p.Asp2796His)

SNV
Germline

Chr5:13792056

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359219061

rs_2126899976

1 SubmittersRCV002049980

NM_001277115.2(DNAH11):c.8782G>A (p.Asp2928Asn)

SNV
Germline

Chr7:21749786

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181717

rs_768758217

2 SubmittersRCV002050005

NM_001206927.2(DNAH8):c.6679C>T (p.Gln2227Ter)

SNV
Germline

Chr6:38866862

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3789726

rs_777610268

1 SubmittersRCV001950767

NM_001369.3(DNAH5):c.7888-1G>A

SNV
Germline

Chr5:13794059

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359222506

rs_767603357

1 SubmittersRCV002018232

NM_001277115.2(DNAH11):c.3587C>T (p.Thr1196Met)

SNV
Germline

Chr7:21601557

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4179675

rs_779537030

2 SubmittersRCV001905907 RCV002267129

NM_178452.6(DNAAF1):c.1712C>T (p.Pro571Leu)

SNV
Germline

Chr16:84175946

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8203014

rs_199727292

2 SubmittersRCV001969743

NM_001277115.2(DNAH11):c.4886A>G (p.Tyr1629Cys)

SNV
Germline

Chr7:21639007

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180210

rs_750494795

2 SubmittersRCV002031513

NM_001034853.2(RPGR):c.2893G>T (p.Glu965Ter)

SNV
Germline

ChrX:38286106

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412729521

rs_1420285326

3 SubmittersRCV001874221 RCV004719183 RCV004815677

NM_001369.3(DNAH5):c.7369C>T (p.Gln2457Ter)

SNV
Germline

Chr5:13811685

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359189134

rs_2127026486

1 SubmittersRCV001907348

NM_001369.3(DNAH5):c.3675C>G (p.Tyr1225Ter)

SNV
Germline

Chr5:13870926

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA3204200

rs_769582678

2 SubmittersRCV002507665 RCV001992469

NM_001277115.2(DNAH11):c.4681G>A (p.Val1561Met)

SNV
Germline

Chr7:21636051

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180124

rs_752129504

2 SubmittersRCV001937400

NM_012144.4(DNAI1):c.598C>T (p.Gln200Ter)

SNV
Germline

Chr9:34490465

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373247207

rs_763505357

1 SubmittersRCV001942384

NM_003611.3(OFD1):c.1128A>C (p.Lys376Asn)

SNV
Germline

ChrX:13753440

Conflicting classifications of pathogenicity

Orofaciodigital syndrome I
Joubert syndrome
not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351751

rs_758883184

3 SubmittersRCV001905376 RCV003987921 RCV004822943

NM_001277115.2(DNAH11):c.6116C>T (p.Ala2039Val)

SNV
Germline

Chr7:21698149

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4180688

rs_371460473

2 SubmittersRCV001940624 RCV003438896

NM_001277115.2(DNAH11):c.6922C>G (p.Pro2308Ala)

SNV
Germline

Chr7:21711799

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181043

rs_373358447

2 SubmittersRCV001910356

NM_023036.6(DNAI2):c.1348-1G>A

SNV
Germline

Chr17:74310016

Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 9

Criteria Provided
Multiple Submitters
No Conflicts

CA8745758

rs_745755917

2 SubmittersRCV002043982 RCV005014695

NM_001369.3(DNAH5):c.850C>T (p.Arg284Ter)

SNV
Germline

Chr5:13919301

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359219175

rs_777361601

1 SubmittersRCV001897039

NM_023036.6(DNAI2):c.1795G>T (p.Glu599Ter)

SNV
Germline

Chr17:74314193

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA400914743

rs_1374403931

1 SubmittersRCV001949220

NM_001369.3(DNAH5):c.9018C>T (p.Gly3006=)

SNV
Germline

Chr5:13777289

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA443257074

rs_1754239719

2 SubmittersRCV001953724 RCV005032014

NM_001369.3(DNAH5):c.2113G>T (p.Glu705Ter)

SNV
Germline

Chr5:13900352

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359203739

rs_780489890

1 SubmittersRCV001953779

NM_001369.3(DNAH5):c.12664C>T (p.Gln4222Ter)

SNV
Germline

Chr5:13717356

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359206531

rs_2126508639

1 SubmittersRCV001949318

NM_001256715.2(DNAAF3):c.-4-1G>A

SNV
Germline

Chr19:55166418

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA407463527

rs_2147311724

1 SubmittersRCV001964329

NM_001369.3(DNAH5):c.12500-14A>G

SNV
Germline

Chr5:13717534

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA2573138431

rs_2126510171

1 SubmittersRCV001964367

NM_001369.3(DNAH5):c.9606-2A>G

SNV
Germline

Chr5:13769617

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359203387

rs_755550738

1 SubmittersRCV001999302

NM_023036.6(DNAI2):c.1347+1G>T

SNV
Germline

Chr17:74309389

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA400912480

rs_1567875399

1 SubmittersRCV002013322

NM_001256715.2(DNAAF3):c.960C>G (p.Asp320Glu)

SNV
Germline

Chr19:55160728

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA9667991

rs_200938793

2 SubmittersRCV002017551

NM_001369.3(DNAH5):c.11761G>C (p.Gly3921Arg)

SNV
Germline

Chr5:13735131

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359222422

rs_2126606457

1 SubmittersRCV002019866

NM_031924.8(RSPH3):c.-95G>A

SNV
Germline

Chr6:158999645

Pathogenic

Primary ciliary dyskinesia 32

Criteria Provided
Multiple Submitters
No Conflicts

CA4076040

rs_374014611

2 SubmittersRCV001944496

NM_001277115.2(DNAH11):c.11506G>A (p.Val3836Ile)

SNV
Germline

Chr7:21866479

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4182783

rs_767109418

3 SubmittersRCV001927202 RCV003147696

NM_001277115.2(DNAH11):c.4900G>A (p.Ala1634Thr)

SNV
Germline

Chr7:21639021

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180215

rs_375527837

2 SubmittersRCV001976376

NM_012144.4(DNAI1):c.817-2A>G

SNV
Germline

Chr9:34497113

Likely pathogenic

Primary ciliary dyskinesia
Kartagener syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA373250674

rs_2132068900

2 SubmittersRCV002011185 RCV002498019

NM_001369.3(DNAH5):c.12716G>A (p.Trp4239Ter)

SNV
Germline

Chr5:13716680

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359204648

rs_1744320103

1 SubmittersRCV001947450

NM_012144.4(DNAI1):c.1001C>T (p.Ser334Phe)

SNV
Germline

Chr9:34500821

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Kartagener syndrome

Criteria Provided
Conflicting Classifications

CA373253318

rs_1451350869

3 SubmittersRCV001912527 RCV002490154

NM_031924.8(RSPH3):c.-417A>T

SNV
Germline

Chr6:158999967

Pathogenic

Primary ciliary dyskinesia 32

Criteria Provided
Single Submitter

CA366286110

rs_775284185

1 SubmittersRCV001923582

NM_003114.5(SPAG1):c.488+1G>A

SNV
Germline

Chr8:100183437

Likely pathogenic

Primary ciliary dyskinesia 28

Criteria Provided
Single Submitter

CA371801614

rs_1330765503

1 SubmittersRCV001973781

NM_001369.3(DNAH5):c.3262+1G>A

SNV
Germline

Chr5:13882727

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359191585

rs_757275351

1 SubmittersRCV002045266

NM_023036.6(DNAI2):c.865-1G>C

SNV
Germline

Chr17:74301045

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA8745535

rs_776777011

1 SubmittersRCV002048662

NM_012144.4(DNAI1):c.1312-2A>G

SNV
Germline

Chr9:34512107

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373259862

rs_1188227820

1 SubmittersRCV002048682

NM_001277115.2(DNAH11):c.3898C>A (p.Gln1300Lys)

SNV
Germline

Chr7:21615159

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA155104049

rs_375160708

2 SubmittersRCV001905402

NM_001369.3(DNAH5):c.4636C>T (p.Gln1546Ter)

SNV
Germline

Chr5:13862708

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA359222357

rs_1344601147

2 SubmittersRCV001893388

NM_152732.5(RSPH9):c.1A>G (p.Met1Val)

SNV
Germline

Chr6:43645099

Pathogenic

Primary ciliary dyskinesia
RSPH9-related disorder

Criteria Provided
Single Submitter

CA364286809

rs_775745422

2 SubmittersRCV001911254 RCV004757490

NM_001277115.2(DNAH11):c.2829T>G (p.Phe943Leu)

SNV
Germline

Chr7:21599948

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179448

rs_367640600

2 SubmittersRCV001987864

NM_017802.4(DNAAF5):c.1027C>T (p.Arg343Cys)

SNV
Germline

Chr7:754591

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 18

Criteria Provided
Conflicting Classifications

CA4110577

rs_773921234

3 SubmittersRCV001988088 RCV002492085

NM_001369.3(DNAH5):c.3598+1G>A

SNV
Germline

Chr5:13871563

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA359232576

rs_2151920209

2 SubmittersRCV001944682 RCV002506913

NM_001277115.2(DNAH11):c.5094+1G>A

SNV
Germline

Chr7:21655982

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA4180282

rs_746014324

1 SubmittersRCV002020511

NM_001369.3(DNAH5):c.2039C>T (p.Ala680Val)

SNV
Germline

Chr5:13901265

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3204697

rs_374086061

2 SubmittersRCV001903094 RCV002284499

NM_001277115.2(DNAH11):c.3901G>T (p.Glu1301Ter)

SNV
Germline

Chr7:21615162

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA155104055

rs_72657308

1 SubmittersRCV001946142

NM_023036.6(DNAI2):c.1494+1G>T

SNV
Germline

Chr17:74310164

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA8745791

rs_397515565

1 SubmittersRCV001960164

NM_001277115.2(DNAH11):c.2329C>T (p.Leu777Phe)

SNV
Germline

Chr7:21591239

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366942464

rs_1163253626

2 SubmittersRCV001972170

NM_001277115.2(DNAH11):c.3790A>G (p.Arg1264Gly)

SNV
Germline

Chr7:21606671

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179768

rs_749057056

2 SubmittersRCV001894581

NM_001369.3(DNAH5):c.2983+1G>A

SNV
Germline

Chr5:13884988

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359195008

rs_1772196982

1 SubmittersRCV002006959

NM_001369.3(DNAH5):c.12380G>A (p.Arg4127His)

SNV
Germline

Chr5:13719001

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3201656

rs_762555871

2 SubmittersRCV002009213 RCV003228046

NM_015896.4(ZMYND10):c.83G>A (p.Gly28Asp)

SNV
Germline

Chr3:50345497

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA352945941

rs_1703516836

1 SubmittersRCV001864502

NM_001369.3(DNAH5):c.9976G>A (p.Val3326Ile)

SNV
Germline

Chr5:13766101

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202361

rs_149452082

2 SubmittersRCV001922633

NM_001277115.2(DNAH11):c.2406G>A (p.Trp802Ter)

SNV
Germline

Chr7:21591316

Pathogenic

Primary ciliary dyskinesia
Laterality defects, autosomal dominant

Criteria Provided
Single Submitter

CA366942632

rs_1310930757

2 SubmittersRCV002002372 RCV004764977

NM_021147.5(CCNO):c.307C>T (p.Gln103Ter)

SNV
Germline

Chr5:55233217

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA3266811

rs_746493440

2 SubmittersRCV002002408

NM_001369.3(DNAH5):c.4078A>T (p.Lys1360Ter)

SNV
Germline

Chr5:13866258

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359226505

rs_1769232570

1 SubmittersRCV001994820

NM_001369.3(DNAH5):c.6442C>T (p.Gln2148Ter)

SNV
Germline

Chr5:13829512

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA3203408

rs_777303718

2 SubmittersRCV001993242 RCV002227290

NM_001369.3(DNAH5):c.4053+1G>A

SNV
Germline

Chr5:13867773

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA359227881

rs_1060501466

2 SubmittersRCV001983809 RCV002246643

NM_001277115.2(DNAH11):c.875A>G (p.Tyr292Cys)

SNV
Germline

Chr7:21559785

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4178802

rs_768404895

2 SubmittersRCV001890272 RCV004693864

NM_003114.5(SPAG1):c.1785G>A (p.Trp595Ter)

SNV
Germline

Chr8:100225269

Pathogenic

Primary ciliary dyskinesia 28

Criteria Provided
Single Submitter

CA371814127

rs_1818457032

1 SubmittersRCV001993386

NM_145038.5(DRC1):c.732G>A (p.Trp244Ter)

SNV
Germline

Chr2:26430839

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA1561999

rs_371220148

1 SubmittersRCV002007472

NM_001277115.2(DNAH11):c.3020T>G (p.Leu1007Ter)

SNV
Germline

Chr7:21600695

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366944938

rs_1480698078

1 SubmittersRCV002007526

NM_001369.3(DNAH5):c.8821-1G>A

SNV
Germline

Chr5:13780960

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359213005

rs_1060501454

1 SubmittersRCV002007584

NM_001277115.2(DNAH11):c.8680C>G (p.Leu2894Val)

SNV
Germline

Chr7:21749684

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181694

rs_778125255

2 SubmittersRCV002016057

NM_001369.3(DNAH5):c.5485-2A>T

SNV
Germline

Chr5:13841132

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359210514

rs_2151860622

1 SubmittersRCV002016211

NM_033124.5(CCDC65):c.470+1G>A

SNV
Germline

Chr12:48914574

Likely pathogenic

Primary ciliary dyskinesia 27

Criteria Provided
Single Submitter

CA384626500

rs_751672400

1 SubmittersRCV002016234

NM_023036.6(DNAI2):c.928A>T (p.Lys310Ter)

SNV
Germline

Chr17:74301109

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA400909271

rs_755714858

1 SubmittersRCV001896711

NM_001369.3(DNAH5):c.6739C>T (p.Gln2247Ter)

SNV
Germline

Chr5:13820448

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA359194888

rs_2151814430

2 SubmittersRCV001939646 RCV002484797

NM_001369.3(DNAH5):c.3457G>T (p.Glu1153Ter)

SNV
Germline

Chr5:13871705

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359233241

rs_779799358

1 SubmittersRCV001942209

NM_001277115.2(DNAH11):c.8573G>A (p.Gly2858Asp)

SNV
Germline

Chr7:21748642

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181649

rs_757621175

2 SubmittersRCV001917902

NM_001277115.2(DNAH11):c.1084G>A (p.Ala362Thr)

SNV
Germline

Chr7:21564287

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
See cases

Criteria Provided
Conflicting Classifications

CA4178896

rs_771256529

3 SubmittersRCV001933523 RCV002252729

NM_001369.3(DNAH5):c.9975C>A (p.Cys3325Ter)

SNV
Germline

Chr5:13766102

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA359200133

rs_771715883

2 SubmittersRCV001941875 RCV002479577

NM_017802.4(DNAAF5):c.2374C>T (p.Arg792Ter)

SNV
Germline

Chr7:780087

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA366547990

rs_1216182303

2 SubmittersRCV001939559

NM_001369.3(DNAH5):c.10522C>T (p.Gln3508Ter)

SNV
Germline

Chr5:13754236

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359193451

rs_1750671525

1 SubmittersRCV001942014

NM_012144.4(DNAI1):c.682-1G>A

SNV
Germline

Chr9:34493193

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373248894

rs_2132065273

1 SubmittersRCV001989075

NM_001369.3(DNAH5):c.6779C>T (p.Thr2260Ile)

SNV
Germline

Chr5:13820408

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203283

rs_370292438

2 SubmittersRCV001895664

NM_015896.4(ZMYND10):c.778G>A (p.Gly260Arg)

SNV
Germline

Chr3:50342492

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 22

Criteria Provided
Conflicting Classifications

CA2417084

rs_774583071

3 SubmittersRCV001934308 RCV003228033 RCV003989736

NM_001277115.2(DNAH11):c.7226C>T (p.Ala2409Val)

SNV
Germline

Chr7:21720816

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181148

rs_769281862

2 SubmittersRCV001957892

NM_017950.4(CCDC40):c.3175C>T (p.Arg1059Ter)

SNV
Germline

Chr17:80097398

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 15

Criteria Provided
Multiple Submitters
No Conflicts

CA401356832

rs_1312712049

2 SubmittersRCV001864564 RCV002503443

NM_001277115.2(DNAH11):c.11363T>C (p.Met3788Thr)

SNV
Germline

Chr7:21862013

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182715

rs_374799169

2 SubmittersRCV001957587

NM_178452.6(DNAAF1):c.1957G>T (p.Glu653Ter)

SNV
Germline

Chr16:84176191

Pathogenic

Primary ciliary dyskinesia
DNAAF1-related disorder

Criteria Provided
Single Submitter

CA8203066

rs_201034372

2 SubmittersRCV002037936 RCV003418250

NM_001369.3(DNAH5):c.1342A>T (p.Lys448Ter)

SNV
Germline

Chr5:13913937

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359214550

rs_1227276816

1 SubmittersRCV002002470

NM_001206927.2(DNAH8):c.5762G>A (p.Trp1921Ter)

SNV
Germline

Chr6:38857546

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA364017900

rs_2150400998

1 SubmittersRCV002002540

NM_001369.3(DNAH5):c.9427A>T (p.Lys3143Ter)

SNV
Germline

Chr5:13770927

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3202545

rs_765325621

1 SubmittersRCV001939346

NM_080860.4(RSPH1):c.1A>C (p.Met1Leu)

SNV
Germline

Chr21:42496186

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA10044115

rs_566463967

1 SubmittersRCV001960515

NM_001369.3(DNAH5):c.5271G>T (p.Lys1757Asn)

SNV
Germline

Chr5:13844837

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA359213492

rs_1293906490

2 SubmittersRCV002022219 RCV002222268

NM_012144.4(DNAI1):c.1613C>T (p.Ala538Val)

SNV
Germline

Chr9:34514437

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373263299

rs_2132083804

1 SubmittersRCV002022236

NM_001277115.2(DNAH11):c.12548C>T (p.Pro4183Leu)

SNV
Germline

Chr7:21892465

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4183123

rs_746934962

2 SubmittersRCV002017666 RCV005254014

NM_018139.3(DNAAF2):c.1300A>T (p.Lys434Ter)

SNV
Germline

Chr14:49633850

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA389628115

rs_2139581674

1 SubmittersRCV001972408

NM_001034853.2(RPGR):c.1220C>A (p.Ser407Ter)

SNV
Germline

ChrX:38298981

Pathogenic

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412739752

rs_772201779

2 SubmittersRCV001972421 RCV003312028

NM_001369.3(DNAH5):c.13746C>A (p.Tyr4582Ter)

SNV
Germline

Chr5:13692113

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359188743

rs_369094478

1 SubmittersRCV001951251

NM_001277115.2(DNAH11):c.773T>C (p.Ile258Thr)

SNV
Germline

Chr7:21559683

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4178777

rs_771437656

2 SubmittersRCV001912923 RCV002482785

NM_001277115.2(DNAH11):c.12724G>T (p.Glu4242Ter)

SNV
Germline

Chr7:21892641

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366953511

rs_1408664815

1 SubmittersRCV001946818

NM_001369.3(DNAH5):c.1627C>T (p.Gln543Ter)

SNV
Germline

Chr5:13911403

Pathogenic

Primary ciliary dyskinesia
DNAH5-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA359211715

rs_2151977668

2 SubmittersRCV001972366 RCV003408013

NM_003114.5(SPAG1):c.290G>A (p.Gly97Asp)

SNV
Germline

Chr8:100165963

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 28
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA371819887

rs_1175188961

2 SubmittersRCV002044129 RCV004038791

NM_001369.3(DNAH5):c.4270G>T (p.Glu1424Ter)

SNV
Germline

Chr5:13865753

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359224909

rs_2151910789

1 SubmittersRCV001864061

NM_017950.4(CCDC40):c.1246C>T (p.Arg416Cys)

SNV
Germline

Chr17:80058580

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA401324220

rs_1489341724

2 SubmittersRCV001948550

NM_001369.3(DNAH5):c.12495T>G (p.Tyr4165Ter)

SNV
Germline

Chr5:13718886

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3201623

rs_373536906

1 SubmittersRCV001949516

NM_080860.4(RSPH1):c.727+16G>A

SNV
Germline

Chr21:42477275

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10043804

rs_571130499

2 SubmittersRCV001914485 RCV004693848

NM_015896.4(ZMYND10):c.709C>T (p.Gln237Ter)

SNV
Germline

Chr3:50342561

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
ZMYND10-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA352940495

rs_2109356957

2 SubmittersRCV001956096 RCV003408015

NM_001369.3(DNAH5):c.10348G>T (p.Glu3450Ter)

SNV
Germline

Chr5:13758917

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA359195641

rs_758739748

2 SubmittersRCV001956199

NM_001369.3(DNAH5):c.5883-2A>C

SNV
Germline

Chr5:13830777

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359203226

rs_1580465796

1 SubmittersRCV001956202

NM_001034853.2(RPGR):c.800G>T (p.Gly267Val)

SNV
Germline

ChrX:38304769

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412741686

rs_2147248019

1 SubmittersRCV002008677

NM_001277115.2(DNAH11):c.9602A>G (p.Asn3201Ser)

SNV
Germline

Chr7:21786628

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182053

rs_762025592

2 SubmittersRCV001932950

NM_001277115.2(DNAH11):c.1901A>T (p.Asn634Ile)

SNV
Germline

Chr7:21588564

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179149

rs_575221219

2 SubmittersRCV001952971

NM_080860.4(RSPH1):c.377G>T (p.Gly126Val)

SNV
Germline

Chr21:42485793

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA410365957

rs_1334138475

1 SubmittersRCV001931855

NM_001277115.2(DNAH11):c.1116G>C (p.Trp372Cys)

SNV
Germline

Chr7:21564319

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178903

rs_372700740

2 SubmittersRCV001906506

NM_001277115.2(DNAH11):c.13175C>T (p.Thr4392Met)

SNV
Germline

Chr7:21899992

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4183357

rs_181603431

4 SubmittersRCV002023107 RCV002486700 RCV003883741

NM_001369.3(DNAH5):c.11528C>T (p.Ser3843Leu)

SNV
Germline

Chr5:13735860

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3201933

rs_78346432

1 SubmittersRCV001906686

NM_017802.4(DNAAF5):c.943C>T (p.Gln315Ter)

SNV
Germline

Chr7:741384

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA4110543

rs_756233808

1 SubmittersRCV001944058

NM_001034853.2(RPGR):c.2293G>T (p.Glu765Ter)

SNV
Germline

ChrX:38286706

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412730985

rs_2147198765

1 SubmittersRCV001951491

NM_001277115.2(DNAH11):c.3058G>C (p.Val1020Leu)

SNV
Germline

Chr7:21600733

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4179523

rs_779573927

2 SubmittersRCV001937806 RCV005038484

NM_001277115.2(DNAH11):c.5622-1G>T

SNV
Germline

Chr7:21687098

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366948923

rs_2128473916

1 SubmittersRCV001941179

NM_012144.4(DNAI1):c.180+1G>A

SNV
Germline

Chr9:34485241

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373242252

rs_2132057443

1 SubmittersRCV002029461

NM_001369.3(DNAH5):c.7774C>T (p.Gln2592Ter)

SNV
Germline

Chr5:13807704

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359228830

rs_200922851

1 SubmittersRCV002044869

NM_023036.6(DNAI2):c.1407C>A (p.Cys469Ter)

SNV
Germline

Chr17:74310076

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 9

Criteria Provided
Conflicting Classifications

CA400912752

rs_143723454

2 SubmittersRCV001937715 RCV003989732

NM_001277115.2(DNAH11):c.10978G>C (p.Ala3660Pro)

SNV
Germline

Chr7:21852548

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182567

rs_200057913

2 SubmittersRCV001934805

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_017950.4(CCDC40):c.1225C>T (p.Gln409Ter)

SNV
Germline

Chr17:80058559

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA401324174

rs_1472033145

1 SubmittersRCV001910836

NM_001369.3(DNAH5):c.3443G>A (p.Trp1148Ter)

SNV
Germline

Chr5:13871719

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA113982205

rs_1007367534

1 SubmittersRCV001949580

NM_001369.3(DNAH5):c.10508G>A (p.Trp3503Ter)

SNV
Germline

Chr5:13754250

Pathogenic

Primary ciliary dyskinesia
Respiratory ciliopathies including non-CF bronchiectasis

Criteria Provided
Multiple Submitters
No Conflicts

CA3202204

rs_777987305

2 SubmittersRCV001958770 RCV004782838

NM_001369.3(DNAH5):c.5147G>T (p.Arg1716Leu)

SNV
Germline

Chr5:13844961

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA113954672

rs_74799487

1 SubmittersRCV001958774

NM_001369.3(DNAH5):c.4237C>T (p.Gln1413Ter)

SNV
Germline

Chr5:13865786

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA3204042

rs_752734772

2 SubmittersRCV001975103 RCV005042604

NM_031924.8(RSPH3):c.859+1G>A

SNV
Germline

Chr6:158980773

Pathogenic

Primary ciliary dyskinesia 32

Criteria Provided
Single Submitter

CA151039462

rs_758891825

1 SubmittersRCV002018624

NM_001277115.2(DNAH11):c.2476A>G (p.Arg826Gly)

SNV
Germline

Chr7:21591386

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179348

rs_760855822

2 SubmittersRCV001984588

NM_023036.6(DNAI2):c.1348-1G>T

SNV
Germline

Chr17:74310016

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA400912620

rs_745755917

1 SubmittersRCV001983404

NM_001206927.2(DNAH8):c.5734-1G>T

SNV
Germline

Chr6:38857517

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3789474

rs_781634544

1 SubmittersRCV002040921

NM_017802.4(DNAAF5):c.1615-2A>G

SNV
Germline

Chr7:763804

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA4110804

rs_371542660

2 SubmittersRCV002026949

NM_001277115.2(DNAH11):c.10153G>T (p.Glu3385Ter)

SNV
Germline

Chr7:21801263

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366944319

rs_1208384558

1 SubmittersRCV001909620

NM_001369.3(DNAH5):c.10051C>T (p.Gln3351Ter)

SNV
Germline

Chr5:13766026

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA359199723

rs_770720791

2 SubmittersRCV001909665

NM_001277115.2(DNAH11):c.2402C>T (p.Thr801Met)

SNV
Germline

Chr7:21591312

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179328

rs_370878968

2 SubmittersRCV001960194

NM_012144.4(DNAI1):c.902-2A>G

SNV
Germline

Chr9:34500720

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373252981

rs_2132071947

1 SubmittersRCV001978177

NM_001369.3(DNAH5):c.232C>T (p.Arg78Ter)

SNV
Germline

Chr5:13928139

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359227174

rs_1314223921

1 SubmittersRCV001863336

NM_001369.3(DNAH5):c.6962G>A (p.Trp2321Ter)

SNV
Germline

Chr5:13817574

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359192547

rs_2151807051

1 SubmittersRCV001863450

NM_012144.4(DNAI1):c.1569+1G>A

SNV
Germline

Chr9:34513192

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373261904

rs_1465404366

1 SubmittersRCV001987117

NM_001277115.2(DNAH11):c.11266C>T (p.Arg3756Cys)

SNV
Germline

Chr7:21861916

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4182684

rs_766141716

3 SubmittersRCV001943435 RCV003146358 RCV003159219

NM_018139.3(DNAAF2):c.1612A>C (p.Ile538Leu)

SNV
Germline

Chr14:49633538

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA7172866

rs_531303883

2 SubmittersRCV001988144

NM_012144.4(DNAI1):c.48+1G>C

SNV
Germline

Chr9:34459054

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373247933

rs_2132034522

1 SubmittersRCV002020203

NM_012144.4(DNAI1):c.1311+1G>C

SNV
Germline

Chr9:34506875

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373257869

rs_2132077044

1 SubmittersRCV002009002

NM_001277115.2(DNAH11):c.6029A>G (p.Lys2010Arg)

SNV
Germline

Chr7:21690869

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4180643

rs_183609678

3 SubmittersRCV001886249 RCV004812420

NM_001369.3(DNAH5):c.9682G>T (p.Glu3228Ter)

SNV
Germline

Chr5:13769539

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359202966

rs_2126779627

1 SubmittersRCV001918612

NM_001277115.2(DNAH11):c.4667T>C (p.Ile1556Thr)

SNV
Germline

Chr7:21636037

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4180120

rs_370239008

3 SubmittersRCV001892533 RCV002269374

NM_018139.3(DNAAF2):c.1312C>T (p.Gln438Ter)

SNV
Germline

Chr14:49633838

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA389628061

rs_1213557289

1 SubmittersRCV001957688

NM_001277115.2(DNAH11):c.6089T>C (p.Leu2030Ser)

SNV
Germline

Chr7:21698122

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA155070363

rs_769169485

2 SubmittersRCV001960895

NM_012144.4(DNAI1):c.1819-2A>G

SNV
Germline

Chr9:34517283

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373266091

rs_2132086408

1 SubmittersRCV001983838

NM_001369.3(DNAH5):c.10872+1G>A

SNV
Germline

Chr5:13753232

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359190705

rs_2126700213

1 SubmittersRCV002003960

NM_001277115.2(DNAH11):c.10027-2A>G

SNV
Germline

Chr7:21801135

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA155108643

rs_868294039

1 SubmittersRCV001986078

NM_001369.3(DNAH5):c.3262+2T>G

SNV
Germline

Chr5:13882726

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359191580

rs_2151938077

1 SubmittersRCV002024945

NM_001369.3(DNAH5):c.12033+1G>A

SNV
Germline

Chr5:13727506

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359217563

rs_2126563913

1 SubmittersRCV002024948

NM_031924.8(RSPH3):c.346+1G>T

SNV
Germline

Chr6:158986279

Likely pathogenic

Primary ciliary dyskinesia 32

Criteria Provided
Single Submitter

CA366282387

rs_2128607933

1 SubmittersRCV002052228

NM_001369.3(DNAH5):c.8804T>C (p.Met2935Thr)

SNV
Germline

Chr5:13786195

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202733

rs_750633804

2 SubmittersRCV002192299

NM_001369.3(DNAH5):c.3745G>A (p.Asp1249Asn)

SNV
Germline

Chr5:13870856

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3204187

rs_140471516

2 SubmittersRCV002220697 RCV005032154

NM_003611.3(OFD1):c.1837A>G (p.Thr613Ala)

SNV
Germline

ChrX:13760297

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
OFD1-related disorder
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351895

rs_775062213

3 SubmittersRCV002086032 RCV004531349 RCV004045760

NM_001369.3(DNAH5):c.13837G>A (p.Val4613Met)

SNV
Germline

Chr5:13692022

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201231

rs_147583407

2 SubmittersRCV002203518

NM_001277115.2(DNAH11):c.1711-4A>T

SNV
Germline

Chr7:21588060

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179082

rs_372207653

2 SubmittersRCV002109330

NM_001369.3(DNAH5):c.8224+18G>A

SNV
Germline

Chr5:13793497

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202869

rs_183622722

2 SubmittersRCV002183555

NM_001206927.2(DNAH8):c.1352T>C (p.Val451Ala)

SNV
Germline

Chr6:38750534

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA3788202

rs_200355421

2 SubmittersRCV002114387 RCV005542723

NM_001369.3(DNAH5):c.2170A>G (p.Met724Val)

SNV
Germline

Chr5:13900295

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204648

rs_202195680

2 SubmittersRCV002202282

NM_003611.3(OFD1):c.2708A>T (p.Glu903Val)

SNV
Germline

ChrX:13767235

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10352068

rs_761100130

2 SubmittersRCV002114734 RCV004046547

NM_003611.3(OFD1):c.3027C>G (p.Asp1009Glu)

SNV
Germline

ChrX:13769096

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Retinitis pigmentosa 23
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA10352147

rs_758646234

3 SubmittersRCV002121294 RCV004046541 RCV005042739

NM_001277115.2(DNAH11):c.7603C>T (p.Arg2535Cys)

SNV
Germline

Chr7:21735802

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181283

rs_374335908

2 SubmittersRCV002181916

NM_001277115.2(DNAH11):c.10867A>G (p.Ile3623Val)

SNV
Germline

Chr7:21842719

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4182506

rs_370443558

3 SubmittersRCV002172482 RCV003481259

NM_178452.6(DNAAF1):c.1645-19G>A

SNV
Germline

Chr16:84174650

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8202971

rs_192432193

3 SubmittersRCV002132328 RCV004710417

NM_003611.3(OFD1):c.345T>G (p.Ile115Met)

SNV
Germline

ChrX:13738878

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351576

rs_751918276

2 SubmittersRCV002218623 RCV004045640

NM_145038.5(DRC1):c.191A>G (p.Glu64Gly)

SNV
Germline

Chr2:26414379

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1561793

rs_138917435

2 SubmittersRCV002199307 RCV004047162

NM_001206927.2(DNAH8):c.5528A>G (p.Asp1843Gly)

SNV
Germline

Chr6:38852755

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA3789404

rs_140442435

2 SubmittersRCV002192080 RCV004045071

NM_001369.3(DNAH5):c.4821G>T (p.Gln1607His)

SNV
Germline

Chr5:13859581

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3203864

rs_773599958

3 SubmittersRCV002211540 RCV004711764

NM_001277115.2(DNAH11):c.8778T>G (p.Ile2926Met)

SNV
Germline

Chr7:21749782

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181715

rs_781151745

2 SubmittersRCV002105414

NM_001190787.3(MCIDAS):c.121-19C>A

SNV
Germline

Chr5:55226950

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Ciliary dyskinesia, primary, 42

Criteria Provided
Conflicting Classifications

CA3266600

rs_181955833

2 SubmittersRCV002080784 RCV003120811

NM_001277115.2(DNAH11):c.2525G>T (p.Arg842Met)

SNV
Germline

Chr7:21591435

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179363

rs_546817580

2 SubmittersRCV002117894

NM_001277115.2(DNAH11):c.3253C>T (p.Gln1085Ter)

SNV
Unknown

Chr7:21600928

Likely pathogenic

Situs inversus
Primary ciliary dyskinesia

No Assertion Criteria Provided

CA366945446

rs_1562691736

1 SubmittersRCV002226186

NM_018076.5(ODAD2):c.97G>T (p.Glu33Ter)

SNV
Germline

Chr10:27995046

Pathogenic

Primary ciliary dyskinesia 23

Criteria Provided
Single Submitter

CA5453903

rs_752348839

1 SubmittersRCV002238983

NM_145045.5(ODAD3):c.320G>A (p.Arg107His)

SNV
Germline

Chr19:11430945

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9212460

rs_376087461

2 SubmittersRCV002237706 RCV003164342

NM_001364171.2(ODAD1):c.467A>G (p.Glu156Gly)

SNV
Germline

Chr19:48312010

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA406664560

rs_1281163225

2 SubmittersRCV002237783

NM_001364171.2(ODAD1):c.377C>T (p.Thr126Met)

SNV
Germline

Chr19:48312100

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 20

Criteria Provided
Conflicting Classifications

CA9549057

rs_137875815

5 SubmittersRCV002237786 RCV003443010 RCV003146525

NM_001364171.2(ODAD1):c.358C>T (p.Gln120Ter)

SNV
Germline

Chr19:48318389

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 20

Criteria Provided
Multiple Submitters
No Conflicts

CA406665934

rs_1179449592

2 SubmittersRCV002237787 RCV003653585

NM_001277115.2(DNAH11):c.2923G>T (p.Glu975Ter)

SNV
Germline

Chr7:21600042

Pathogenic

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA4179466

rs_776980207

2 SubmittersRCV002249919 RCV003094025

NM_001034853.2(RPGR):c.2470G>T (p.Gly824Ter)

SNV
Germline

ChrX:38286529

Pathogenic

Retinitis pigmentosa 3
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412730567

rs_2147197584

2 SubmittersRCV002250299 RCV005095830

NM_001277115.2(DNAH11):c.9860G>A (p.Arg3287Gln)

SNV
Germline

Chr7:21787519

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182136

rs_750119982

2 SubmittersRCV002248244 RCV003653587

NM_001277115.2(DNAH11):c.8099C>T (p.Thr2700Met)

SNV
Germline

Chr7:21742111

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181460

rs_369684624

3 SubmittersRCV002250903 RCV002416538

NM_015896.4(ZMYND10):c.490C>T (p.Gln164Ter)

SNV
Germline

Chr3:50343327

Pathogenic

Primary ciliary dyskinesia 22
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA2417196

rs_376314608

2 SubmittersRCV002283820 RCV003096375

NM_001010892.3(RSPH4A):c.-13T>A

SNV
Germline

Chr6:116616611

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3970682

rs_567530388

2 SubmittersRCV002286144 RCV004017922

NM_001034853.2(RPGR):c.2149C>T (p.Gln717Ter)

SNV
Germline

ChrX:38286850

Pathogenic

X-linked cone-rod dystrophy 1
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412731331

rs_2519793311

2 SubmittersRCV002287220 RCV003653594

NM_001277115.2(DNAH11):c.9376G>A (p.Glu3126Lys)

SNV
Germline

Chr7:21778997

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4181946

rs_767994393

4 SubmittersRCV002287999 RCV002373079 RCV005051956

NM_001369.3(DNAH5):c.1304C>T (p.Ala435Val)

SNV
Germline

Chr5:13914536

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3204891

rs_766164602

3 SubmittersRCV002382506 RCV002288092

NM_001277115.2(DNAH11):c.11911G>A (p.Val3971Met)

SNV
Germline

Chr7:21868935

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182918

rs_774648747

2 SubmittersRCV002288169 RCV003534854

NM_001364171.2(ODAD1):c.97C>T (p.Arg33Ter)

SNV
Germline

Chr19:48318786

Likely pathogenic

Primary ciliary dyskinesia 20

Criteria Provided
Single Submitter

CA309317837

rs_868110599

1 SubmittersRCV002308501

NM_001369.3(DNAH5):c.8624T>A (p.Leu2875Ter)

SNV
Unknown

Chr5:13788739

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359217015

rs_2546723652

1 SubmittersRCV002306504

NM_001369.3(DNAH5):c.8044C>T (p.Gln2682Ter)

SNV
Germline

Chr5:13793695

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA359221560

rs_1199634064

3 SubmittersRCV002306541 RCV003120889

NM_001369.3(DNAH5):c.3082G>T (p.Glu1028Ter)

SNV
Unknown

Chr5:13882996

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359193538

rs_2547031222

1 SubmittersRCV002306582

NM_001369.3(DNAH5):c.10201G>T (p.Gly3401Ter)

SNV
Unknown

Chr5:13762802

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359198255

rs_2546640737

1 SubmittersRCV002306586

NM_001369.3(DNAH5):c.11380G>T (p.Glu3794Ter)

SNV
Unknown

Chr5:13737327

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359226457

rs_936673131

1 SubmittersRCV002306740

NM_001369.3(DNAH5):c.9781A>T (p.Lys3261Ter)

SNV
Unknown

Chr5:13769076

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359202067

rs_146215039

1 SubmittersRCV002306808

NM_001369.3(DNAH5):c.4547T>A (p.Leu1516Ter)

SNV
Unknown

Chr5:13864446

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359223831

rs_2546978412

1 SubmittersRCV002309601

NM_001369.3(DNAH5):c.1291A>T (p.Lys431Ter)

SNV
Unknown

Chr5:13914549

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359214895

rs_1446257052

1 SubmittersRCV002309602

NM_001369.3(DNAH5):c.8058T>A (p.Tyr2686Ter)

SNV
Unknown

Chr5:13793681

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359221498

rs_1757372234

1 SubmittersRCV002309704

NM_001369.3(DNAH5):c.6574A>T (p.Lys2192Ter)

SNV
Unknown

Chr5:13824204

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359197067

rs_2546857495

1 SubmittersRCV002309859

NM_001369.3(DNAH5):c.2278C>T (p.Gln760Ter)

SNV
Unknown

Chr5:13894803

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359201353

rs_2547069104

1 SubmittersRCV002309896

NM_001369.3(DNAH5):c.6083G>A (p.Trp2028Ter)

SNV
Germline

Chr5:13830192

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA359201765

rs_2546879148

3 SubmittersRCV002307861 RCV005058262

NM_001369.3(DNAH5):c.2087T>A (p.Leu696Ter)

SNV
Unknown

Chr5:13900378

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA113943267

rs_1002831578

1 SubmittersRCV002307906

NM_001369.3(DNAH5):c.3152G>A (p.Trp1051Ter)

SNV
Unknown

Chr5:13882926

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359192736

rs_2547030805

1 SubmittersRCV002307957

NM_001369.3(DNAH5):c.8370T>A (p.Tyr2790Ter)

SNV
Unknown

Chr5:13792072

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359219125

rs_2546736793

1 SubmittersRCV002307964

NM_001369.3(DNAH5):c.8993T>A (p.Leu2998Ter)

SNV
Unknown

Chr5:13777314

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359211187

rs_2546682451

1 SubmittersRCV002308024

NM_001369.3(DNAH5):c.10289T>A (p.Leu3430Ter)

SNV
Unknown

Chr5:13758976

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359196001

rs_2546631246

1 SubmittersRCV002308158

NM_001369.3(DNAH5):c.5593G>T (p.Glu1865Ter)

SNV
Unknown

Chr5:13841022

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359209586

rs_2546908288

1 SubmittersRCV002308196

NM_001369.3(DNAH5):c.4874G>A (p.Trp1625Ter)

SNV
Unknown

Chr5:13859528

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359219792

rs_2546965500

1 SubmittersRCV002308214

NM_001369.3(DNAH5):c.8691T>A (p.Tyr2897Ter)

SNV
Unknown

Chr5:13786308

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359215541

rs_2546713542

1 SubmittersRCV002308218

NM_001369.3(DNAH5):c.7677T>A (p.Tyr2559Ter)

SNV
Unknown

Chr5:13809119

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359230798

rs_2546800840

1 SubmittersRCV002308277

NM_001369.3(DNAH5):c.2780C>A (p.Ser927Ter)

SNV
Unknown

Chr5:13885192

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359195715

rs_2547038533

1 SubmittersRCV002308374

NM_001369.3(DNAH5):c.9292A>T (p.Arg3098Ter)

SNV
Unknown

Chr5:13776520

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359208415

rs_2546678822

1 SubmittersRCV002309027

NM_001369.3(DNAH5):c.11938G>T (p.Glu3980Ter)

SNV
Unknown

Chr5:13727602

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359218285

rs_1221618846

1 SubmittersRCV002309078

NM_001369.3(DNAH5):c.9139G>T (p.Glu3047Ter)

SNV
Unknown

Chr5:13776673

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359209662

rs_2546679549

1 SubmittersRCV002309120

NM_001369.3(DNAH5):c.8321G>A (p.Trp2774Ter)

SNV
Unknown

Chr5:13792121

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359219347

rs_2546737159

1 SubmittersRCV002309129

NM_001369.3(DNAH5):c.8161A>T (p.Lys2721Ter)

SNV
Unknown

Chr5:13793578

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359221207

rs_2546743083

1 SubmittersRCV002309166

NM_001369.3(DNAH5):c.8068A>T (p.Lys2690Ter)

SNV
Unknown

Chr5:13793671

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359221471

rs_2546743814

1 SubmittersRCV002309215

NM_001369.3(DNAH5):c.9555T>A (p.Tyr3185Ter)

SNV
Unknown

Chr5:13770799

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359204347

rs_2546662839

1 SubmittersRCV002309316

NM_001369.3(DNAH5):c.141T>A (p.Cys47Ter)

SNV
Unknown

Chr5:13931161

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359230001

rs_2547182728

1 SubmittersRCV002309359

NM_001369.3(DNAH5):c.11668G>T (p.Glu3890Ter)

SNV
Unknown

Chr5:13735224

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359223211

rs_2546561065

1 SubmittersRCV002309520

NM_001369.3(DNAH5):c.2947A>T (p.Lys983Ter)

SNV
Unknown

Chr5:13885025

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359195085

rs_2547037313

1 SubmittersRCV002309534

NM_001369.3(DNAH5):c.8743C>T (p.Gln2915Ter)

SNV
Unknown

Chr5:13786256

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359215263

rs_2546713117

1 SubmittersRCV002306825

NM_001369.3(DNAH5):c.12298C>T (p.Gln4100Ter)

SNV
Unknown

Chr5:13719083

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359211644

rs_2546519013

1 SubmittersRCV002306877

NM_001369.3(DNAH5):c.3880G>T (p.Glu1294Ter)

SNV
Unknown

Chr5:13867947

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359229664

rs_2546988568

1 SubmittersRCV002306896

NM_001369.3(DNAH5):c.12478G>T (p.Gly4160Ter)

SNV
Unknown

Chr5:13718903

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359208931

rs_2546517357

1 SubmittersRCV002306921

NM_001369.3(DNAH5):c.5458G>T (p.Glu1820Ter)

SNV
Unknown

Chr5:13841718

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359210858

rs_2546910913

1 SubmittersRCV002306947

NM_001369.3(DNAH5):c.11203G>T (p.Glu3735Ter)

SNV
Unknown

Chr5:13751086

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359188820

rs_2546608024

1 SubmittersRCV002307160

NM_001369.3(DNAH5):c.4018C>T (p.Gln1340Ter)

SNV
Unknown

Chr5:13867809

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359228348

rs_2546988009

1 SubmittersRCV002307184

NM_001369.3(DNAH5):c.11857A>T (p.Arg3953Ter)

SNV
Unknown

Chr5:13729465

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359219773

rs_2546546992

1 SubmittersRCV002307251

NM_001369.3(DNAH5):c.9620T>A (p.Leu3207Ter)

SNV
Unknown

Chr5:13769601

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359203307

rs_2546659032

1 SubmittersRCV002307277

NM_001369.3(DNAH5):c.4304C>A (p.Ser1435Ter)

SNV
Unknown

Chr5:13865719

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359224673

rs_2546982546

1 SubmittersRCV002310119

NM_001369.3(DNAH5):c.8659G>T (p.Glu2887Ter)

SNV
Unknown

Chr5:13786340

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359215720

rs_2546713783

1 SubmittersRCV002310132

NM_001369.3(DNAH5):c.10771G>T (p.Gly3591Ter)

SNV
Unknown

Chr5:13753334

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359191321

rs_2546614878

1 SubmittersRCV002310206

NM_001369.3(DNAH5):c.2188G>T (p.Glu730Ter)

SNV
Unknown

Chr5:13900277

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359203466

rs_2547087393

1 SubmittersRCV002310231

NM_001369.3(DNAH5):c.4896G>A (p.Trp1632Ter)

SNV
Germline

Chr5:13859506

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia 3
Respiratory ciliopathies including non-CF bronchiectasis

Criteria Provided
Multiple Submitters
No Conflicts

CA359219638

rs_1056752324

2 SubmittersRCV002310256 RCV004782919

NM_001369.3(DNAH5):c.8001G>A (p.Trp2667Ter)

SNV
Unknown

Chr5:13793945

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359221784

rs_2546745553

1 SubmittersRCV002310350

NM_001369.3(DNAH5):c.7240A>T (p.Lys2414Ter)

SNV
Unknown

Chr5:13811814

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359189572

rs_2546815071

1 SubmittersRCV002310381

NM_001369.3(DNAH5):c.9766A>T (p.Lys3256Ter)

SNV
Unknown

Chr5:13769091

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359202193

rs_776993217

1 SubmittersRCV002310386

NM_001369.3(DNAH5):c.3799C>T (p.Gln1267Ter)

SNV
Unknown

Chr5:13870802

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359231400

rs_2546995623

1 SubmittersRCV002310404

NM_001369.3(DNAH5):c.4648C>T (p.Gln1550Ter)

SNV
Germline

Chr5:13862696

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA359222250

rs_2546974004

2 SubmittersRCV002310485 RCV003534856

NM_001369.3(DNAH5):c.2382G>A (p.Trp794Ter)

SNV
Unknown

Chr5:13894699

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359200699

rs_2151953467

1 SubmittersRCV002310494

NM_001369.3(DNAH5):c.1411G>T (p.Gly471Ter)

SNV
Unknown

Chr5:13913868

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359214112

rs_2547127397

1 SubmittersRCV002308434

NM_001369.3(DNAH5):c.3210G>C (p.Gln1070His)

SNV
Germline

Chr5:13882780

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204350

rs_372974399

2 SubmittersRCV002324595

NM_001369.3(DNAH5):c.40G>T (p.Val14Phe)

SNV
Germline

Chr5:13944399

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA359189848

rs_1015850611

2 SubmittersRCV002323334

NM_001277115.2(DNAH11):c.4106C>T (p.Ser1369Leu)

SNV
Germline

Chr7:21617629

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179904

rs_768789429

2 SubmittersRCV002323376

NM_001369.3(DNAH5):c.4257C>A (p.Tyr1419Ter)

SNV
Germline

Chr5:13865766

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359224980

rs_1769153825

1 SubmittersRCV002329907

NM_001277115.2(DNAH11):c.4037C>T (p.Thr1346Ile)

SNV
Germline

Chr7:21616234

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179868

rs_367884384

2 SubmittersRCV002375766

NM_001277115.2(DNAH11):c.4168A>G (p.Met1390Val)

SNV
Germline

Chr7:21617691

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179929

rs_759282487

2 SubmittersRCV002333365

NM_001277115.2(DNAH11):c.346C>T (p.Gln116Ter)

SNV
Germline

Chr7:21543591

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA366931665

rs_374802008

2 SubmittersRCV002457280 RCV005254065

NM_001277115.2(DNAH11):c.3635A>G (p.Tyr1212Cys)

SNV
Germline

Chr7:21601605

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179685

rs_199911435

2 SubmittersRCV002452383

NM_001369.3(DNAH5):c.3248A>T (p.Glu1083Val)

SNV
Germline

Chr5:13882742

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3204348

rs_370697884

4 SubmittersRCV002324844 RCV003491087 RCV004809814

NM_001369.3(DNAH5):c.358G>A (p.Asp120Asn)

SNV
Germline

Chr5:13923360

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3205205

rs_779957324

2 SubmittersRCV002455129

NM_018139.3(DNAAF2):c.1159G>T (p.Glu387Ter)

SNV
Germline

Chr14:49633991

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA389629274

rs_1439733262

1 SubmittersRCV002321105

NM_001277115.2(DNAH11):c.3969A>G (p.Ile1323Met)

SNV
Germline

Chr7:21615230

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179831

rs_779250701

2 SubmittersRCV002375474

NM_001277115.2(DNAH11):c.4127T>A (p.Val1376Asp)

SNV
Germline

Chr7:21617650

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179912

rs_373292392

2 SubmittersRCV002333031

NM_001277115.2(DNAH11):c.4425C>A (p.Tyr1475Ter)

SNV
Germline

Chr7:21620003

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA4180043

rs_373706559

2 SubmittersRCV002333927 RCV005254066

NM_178452.6(DNAAF1):c.491G>A (p.Arg164His)

SNV
Germline

Chr16:84154715

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8202510

rs_750513286

2 SubmittersRCV002340714

NM_001277115.2(DNAH11):c.495+1G>T

SNV
Germline

Chr7:21545150

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178678

rs_377623604

2 SubmittersRCV002342730

NM_001277115.2(DNAH11):c.11956G>A (p.Val3986Ile)

SNV
Germline

Chr7:21868980

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366962886

rs_1431407809

2 SubmittersRCV002338358

NM_001010892.3(RSPH4A):c.517C>T (p.Gln173Ter)

SNV
Germline

Chr6:116617140

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA365394109

rs_1244173581

1 SubmittersRCV002338434

NM_001369.3(DNAH5):c.6001G>A (p.Val2001Ile)

SNV
Germline

Chr5:13830657

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3203512

rs_769656114

3 SubmittersRCV002358016 RCV004820912

NM_001277115.2(DNAH11):c.6032C>T (p.Ala2011Val)

SNV
Germline

Chr7:21690872

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180644

rs_375824434

2 SubmittersRCV002358179

NM_001277115.2(DNAH11):c.10166-1G>C

SNV
Germline

Chr7:21807882

Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA366945772

rs_1166330097

3 SubmittersRCV002340552 RCV005254070

NM_001277115.2(DNAH11):c.514T>G (p.Ser172Ala)

SNV
Germline

Chr7:21558820

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366932249

rs_1337921591

2 SubmittersRCV002338260

NM_001369.3(DNAH5):c.5389C>T (p.Gln1797Ter)

SNV
Germline

Chr5:13841787

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359211599

rs_2546911328

1 SubmittersRCV002347164

NM_001277115.2(DNAH11):c.5692G>A (p.Gly1898Arg)

SNV
Germline

Chr7:21687169

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA155116260

rs_767246053

3 SubmittersRCV002347490 RCV005254072

NM_001369.3(DNAH5):c.5902C>T (p.Gln1968Ter)

SNV
Germline

Chr5:13830756

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3203536

rs_775125740

1 SubmittersRCV002355719

NM_023036.6(DNAI2):c.1212-2A>C

SNV
Germline

Chr17:74309251

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA400911541

rs_2509762743

1 SubmittersRCV002355874

NM_001277115.2(DNAH11):c.5947A>G (p.Ile1983Val)

SNV
Germline

Chr7:21690787

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366950432

rs_536513593

2 SubmittersRCV002355950

NM_001277115.2(DNAH11):c.6245G>C (p.Arg2082Pro)

SNV
Germline

Chr7:21702774

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA4180740

rs_563280837

3 SubmittersRCV002366631 RCV004534066

NM_001369.3(DNAH5):c.6265G>A (p.Gly2089Arg)

SNV
Germline

Chr5:13829689

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203439

rs_767274970

2 SubmittersRCV002368629

NM_001369.3(DNAH5):c.506C>A (p.Ser169Ter)

SNV
Germline

Chr5:13922261

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359223010

rs_749078502

1 SubmittersRCV002335828

NM_001277115.2(DNAH11):c.11929G>T (p.Glu3977Ter)

SNV
Germline

Chr7:21868953

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA4182921

rs_72658817

3 SubmittersRCV002335848 RCV005254071

NM_001256715.2(DNAAF3):c.988A>G (p.Thr330Ala)

SNV
Germline

Chr19:55160700

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA9667988

rs_775837121

2 SubmittersRCV002351460

NM_001369.3(DNAH5):c.5282G>A (p.Arg1761Gln)

SNV
Germline

Chr5:13841894

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203709

rs_774020682

2 SubmittersRCV002344465

NM_001277115.2(DNAH11):c.5294A>G (p.Tyr1765Cys)

SNV
Germline

Chr7:21658997

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180349

rs_771040551

2 SubmittersRCV002344627

NM_001369.3(DNAH5):c.532G>A (p.Ala178Thr)

SNV
Germline

Chr5:13922235

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3205159

rs_781356156

2 SubmittersRCV002346834

NM_001369.3(DNAH5):c.5583G>T (p.Gln1861His)

SNV
Germline

Chr5:13841032

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203633

rs_756945139

2 SubmittersRCV002344766

NM_001277115.2(DNAH11):c.12058A>G (p.Met4020Val)

SNV
Germline

Chr7:21873364

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182961

rs_765636819

2 SubmittersRCV002344863

NM_001277115.2(DNAH11):c.4504C>T (p.Gln1502Ter)

SNV
Germline

Chr7:21635874

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA366933113

rs_774689207

3 SubmittersRCV002339861 RCV005254067

NM_001369.3(DNAH5):c.4960C>T (p.Arg1654Trp)

SNV
Germline

Chr5:13850806

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203824

rs_139364454

2 SubmittersRCV002351337

NM_001369.3(DNAH5):c.496C>T (p.Arg166Cys)

SNV
Germline

Chr5:13922271

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3205166

rs_372832680

2 SubmittersRCV002342831

NM_001277115.2(DNAH11):c.11900G>T (p.Gly3967Val)

SNV
Germline

Chr7:21868924

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182914

rs_376276056

2 SubmittersRCV002343019

NM_001277115.2(DNAH11):c.5242A>G (p.Ile1748Val)

SNV
Germline

Chr7:21658945

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180340

rs_377210446

2 SubmittersRCV002344339

NM_001277115.2(DNAH11):c.5258A>G (p.Asp1753Gly)

SNV
Germline

Chr7:21658961

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA155090807

rs_916862604

2 SubmittersRCV002340974

NM_001277115.2(DNAH11):c.6078C>G (p.Ile2026Met)

SNV
Germline

Chr7:21698111

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180682

rs_769000578

2 SubmittersRCV002359968

NM_001369.3(DNAH5):c.12223A>G (p.Met4075Val)

SNV
Germline

Chr5:13721056

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA359213464

rs_1423192314

3 SubmittersRCV002361574 RCV003403800

NM_001277115.2(DNAH11):c.6406C>T (p.Gln2136Ter)

SNV
Germline

Chr7:21704566

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA366937315

rs_1261633400

2 SubmittersRCV002361597

NM_001369.3(DNAH5):c.12279C>T (p.Asn4093=)

SNV
Germline

Chr5:13721000

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3201698

rs_572468560

2 SubmittersRCV002364570 RCV003615893

NM_001369.3(DNAH5):c.6898C>T (p.Gln2300Ter)

SNV
Germline

Chr5:13817638

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA359193188

rs_1157521172

2 SubmittersRCV002362292

NM_001277115.2(DNAH11):c.7258C>G (p.Gln2420Glu)

SNV
Germline

Chr7:21720848

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366944298

rs_1207409225

2 SubmittersRCV002371133

NM_001277115.2(DNAH11):c.7559T>C (p.Val2520Ala)

SNV
Germline

Chr7:21735758

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181265

rs_777454538

2 SubmittersRCV002394003

NM_001369.3(DNAH5):c.7571C>T (p.Pro2524Leu)

SNV
Germline

Chr5:13810097

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA113979098

rs_369824303

2 SubmittersRCV002394083

NM_001277115.2(DNAH11):c.7604G>A (p.Arg2535His)

SNV
Germline

Chr7:21735803

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181284

rs_115598432

2 SubmittersRCV002396185

NM_001277115.2(DNAH11):c.1247C>A (p.Ser416Ter)

SNV
Germline

Chr7:21570121

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA366934553

rs_1783826754

2 SubmittersRCV002396186 RCV005254076

NM_001369.3(DNAH5):c.7610-2A>G

SNV
Germline

Chr5:13809188

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359231102

rs_2546801557

1 SubmittersRCV002396213

NM_001369.3(DNAH5):c.793G>A (p.Glu265Lys)

SNV
Germline

Chr5:13920485

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
DNAH5-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3205100

rs_140576123

4 SubmittersRCV002416823 RCV003408252 RCV004774676

NM_001369.3(DNAH5):c.8311C>T (p.Arg2771Cys)

SNV
Germline

Chr5:13792131

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3202846

rs_769557047

4 SubmittersRCV002430392 RCV004554886 RCV004823034

NM_001369.3(DNAH5):c.8395C>T (p.Arg2799Trp)

SNV
Germline

Chr5:13792047

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3202834

rs_542159073

3 SubmittersRCV002434859 RCV003164540

NM_001369.3(DNAH5):c.8396G>C (p.Arg2799Pro)

SNV
Germline

Chr5:13792046

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359219018

rs_1182948401

1 SubmittersRCV002434860

NM_001369.3(DNAH5):c.12685G>A (p.Asp4229Asn)

SNV
Germline

Chr5:13717335

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201570

rs_746241201

2 SubmittersRCV002373544

NM_001369.3(DNAH5):c.8751T>G (p.Tyr2917Ter)

SNV
Germline

Chr5:13786248

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359215223

rs_1755980161

1 SubmittersRCV002373560

NM_001369.3(DNAH5):c.8803A>G (p.Met2935Val)

SNV
Germline

Chr5:13786196

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA113954219

rs_929329118

2 SubmittersRCV002373720

NM_001277115.2(DNAH11):c.883-4T>G

SNV
Germline

Chr7:21561067

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA572912839

rs_781560218

2 SubmittersRCV002449813

NM_001277115.2(DNAH11):c.12317A>T (p.Tyr4106Phe)

SNV
Germline

Chr7:21880823

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4183033

rs_763870754

2 SubmittersRCV002369566

NM_001277115.2(DNAH11):c.7186G>A (p.Asp2396Asn)

SNV
Germline

Chr7:21720776

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366943791

rs_1267150542

2 SubmittersRCV002370758

NM_001277115.2(DNAH11):c.7812-2A>G

SNV
Germline

Chr7:21739569

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA366950755

rs_1166463469

3 SubmittersRCV002412128 RCV005254077

NM_001369.3(DNAH5):c.1252G>A (p.Ala418Thr)

SNV
Germline

Chr5:13914588

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3204901

rs_140388814

3 SubmittersRCV002412360 RCV003434477

NM_003114.5(SPAG1):c.826G>A (p.Val276Ile)

SNV
Germline

Chr8:100187244

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 28

Criteria Provided
Conflicting Classifications

CA371803229

rs_556715100

2 SubmittersRCV002430215 RCV003108061

NM_001277115.2(DNAH11):c.12670A>G (p.Thr4224Ala)

SNV
Germline

Chr7:21892587

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4183143

rs_748398869

3 SubmittersRCV002373416 RCV003146551

NM_001277115.2(DNAH11):c.8720C>A (p.Pro2907His)

SNV
Germline

Chr7:21749724

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181700

rs_762986683

2 SubmittersRCV002449746

NM_001369.3(DNAH5):c.9125G>T (p.Arg3042Leu)

SNV
Germline

Chr5:13776687

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202604

rs_200839716

2 SubmittersRCV002378718

NM_001277115.2(DNAH11):c.9664G>A (p.Val3222Met)

SNV
Germline

Chr7:21786690

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182065

rs_535546772

2 SubmittersRCV002376520

NM_001369.3(DNAH5):c.9679A>T (p.Lys3227Ter)

SNV
Germline

Chr5:13769542

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359202985

rs_2546658786

1 SubmittersRCV002386982

NM_001277115.2(DNAH11):c.674A>G (p.Gln225Arg)

SNV
Germline

Chr7:21558980

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA155074535

rs_970001175

2 SubmittersRCV002369213

NM_001369.3(DNAH5):c.7459G>A (p.Ala2487Thr)

SNV
Germline

Chr5:13810209

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203087

rs_774699675

2 SubmittersRCV002385140

NM_001369.3(DNAH5):c.8174C>G (p.Ser2725Cys)

SNV
Germline

Chr5:13793565

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202882

rs_764288193

2 SubmittersRCV002427788

NM_001369.3(DNAH5):c.8537C>T (p.Ala2846Val)

SNV
Germline

Chr5:13788826

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202792

rs_200457834

2 SubmittersRCV002414442

NM_001277115.2(DNAH11):c.9430C>T (p.Gln3144Ter)

SNV
Germline

Chr7:21779051

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA366937754

rs_1428188386

2 SubmittersRCV002443458 RCV005254080

NM_001369.3(DNAH5):c.9481G>T (p.Val3161Phe)

SNV
Germline

Chr5:13770873

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202537

rs_773045896

2 SubmittersRCV002374069

NM_001369.3(DNAH5):c.9517G>A (p.Val3173Met)

SNV
Germline

Chr5:13770837

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202528

rs_552782157

2 SubmittersRCV002374196

NM_001369.3(DNAH5):c.7309C>T (p.Arg2437Cys)

SNV
Germline

Chr5:13811745

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203124

rs_201469471

2 SubmittersRCV002380028

NM_001369.3(DNAH5):c.7631C>T (p.Thr2544Met)

SNV
Germline

Chr5:13809165

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3203037

rs_766316984

3 SubmittersRCV002396324 RCV002466755

NM_001369.3(DNAH5):c.8010+1G>A

SNV
Germline

Chr5:13793935

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359221746

rs_2546745461

1 SubmittersRCV002419220

NM_001277115.2(DNAH11):c.847A>G (p.Met283Val)

SNV
Germline

Chr7:21559757

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178797

rs_368102189

2 SubmittersRCV002447618

NM_001277115.2(DNAH11):c.8880G>A (p.Met2960Ile)

SNV
Germline

Chr7:21750304

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181768

rs_80267624

2 SubmittersRCV002375984

NM_001277115.2(DNAH11):c.9325A>T (p.Thr3109Ser)

SNV
Germline

Chr7:21773988

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181925

rs_202139668

2 SubmittersRCV002371617

NM_001277115.2(DNAH11):c.9448C>T (p.Arg3150Trp)

SNV
Germline

Chr7:21779069

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181965

rs_761102719

2 SubmittersRCV002443447

NM_001369.3(DNAH5):c.9706G>A (p.Asp3236Asn)

SNV
Germline

Chr5:13769515

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202466

rs_374206128

2 SubmittersRCV002376678

NM_001034853.2(RPGR):c.972C>T (p.His324=)

SNV
Germline

ChrX:38301334

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
RPGR-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA10385565

rs_771739225

4 SubmittersRCV002387052 RCV004756395 RCV003889112

NM_001369.3(DNAH5):c.13485G>A (p.Met4495Ile)

SNV
Germline

Chr5:13701290

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA359192360

rs_1424487626

2 SubmittersRCV002387866

NM_001034853.2(RPGR):c.1500A>C (p.Leu500Phe)

SNV
Germline

ChrX:38291399

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10385475

rs_375014257

2 SubmittersRCV002389916

NM_001277115.2(DNAH11):c.1667G>A (p.Cys556Tyr)

SNV
Germline

Chr7:21581978

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179057

rs_370752481

2 SubmittersRCV002403916

NM_001369.3(DNAH5):c.986A>G (p.Glu329Gly)

SNV
Germline

Chr5:13917246

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3204994

rs_483353127

3 SubmittersRCV002387349 RCV003883818

NM_001369.3(DNAH5):c.13332G>A (p.Trp4444Ter)

SNV
Germline

Chr5:13708129

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359196285

rs_2546486911

1 SubmittersRCV002387539

NM_001369.3(DNAH5):c.13385T>C (p.Ile4462Thr)

SNV
Germline

Chr5:13701390

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201377

rs_750565633

2 SubmittersRCV002387625

NM_001277115.2(DNAH11):c.1408C>A (p.Arg470Ser)

SNV
Germline

Chr7:21570282

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178965

rs_374144841

2 SubmittersRCV002389429

NM_001277115.2(DNAH11):c.1411T>G (p.Leu471Val)

SNV
Germline

Chr7:21570285

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178967

rs_536932803

2 SubmittersRCV002389534

NM_001369.3(DNAH5):c.10405A>G (p.Met3469Val)

SNV
Germline

Chr5:13758860

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202250

rs_755793521

2 SubmittersRCV002389801

NM_001277115.2(DNAH11):c.13120G>A (p.Val4374Met)

SNV
Germline

Chr7:21899406

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366955429

rs_560018723

2 SubmittersRCV002385470

NM_001277115.2(DNAH11):c.10333-5T>G

SNV
Germline

Chr7:21816462

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA572919024

rs_1416530706

2 SubmittersRCV002389203

NM_001369.3(DNAH5):c.104C>T (p.Ala35Val)

SNV
Germline

Chr5:13931198

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3205282

rs_371414060

2 SubmittersRCV002394888

NM_001369.3(DNAH5):c.10552G>C (p.Val3518Leu)

SNV
Germline

Chr5:13754206

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202199

rs_558861943

2 SubmittersRCV002406251

NM_178452.6(DNAAF1):c.1780G>A (p.Val594Met)

SNV
Germline

Chr16:84176014

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA396950526

rs_2088633060

2 SubmittersRCV002404087

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_001034853.2(RPGR):c.1880C>G (p.Ser627Ter)

SNV
Germline

ChrX:38287119

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412732439

rs_2147200625

2 SubmittersRCV002415301

NM_001369.3(DNAH5):c.12975G>C (p.Gln4325His)

SNV
Germline

Chr5:13714555

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201483

rs_780181944

2 SubmittersRCV002380674

NM_001277115.2(DNAH11):c.13070G>A (p.Arg4357Gln)

SNV
Germline

Chr7:21899356

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4183284

rs_369549112

2 SubmittersRCV002380975

NM_001277115.2(DNAH11):c.10303T>A (p.Cys3435Ser)

SNV
Germline

Chr7:21808020

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366946512

rs_1325718181

2 SubmittersRCV002383595

NM_001369.3(DNAH5):c.1534C>T (p.Gln512Ter)

SNV
Germline

Chr5:13913745

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA113957613

rs_764935565

1 SubmittersRCV002392578

NM_012144.4(DNAI1):c.1684G>A (p.Asp562Asn)

SNV
Germline

Chr9:34514508

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Kartagener syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA373263762

rs_1371519471

3 SubmittersRCV002406075 RCV005050573

NM_001277115.2(DNAH11):c.1688A>G (p.Asn563Ser)

SNV
Germline

Chr7:21581999

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179062

rs_746506506

2 SubmittersRCV002414595

NM_001277115.2(DNAH11):c.1966C>T (p.Arg656Cys)

SNV
Germline

Chr7:21588629

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179164

rs_780931328

2 SubmittersRCV002423401

NM_001369.3(DNAH5):c.1975A>G (p.Ile659Val)

SNV
Germline

Chr5:13901329

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3204706

rs_763360696

3 SubmittersRCV002423563 RCV004725275

NM_017802.4(DNAAF5):c.2152C>T (p.Arg718Ter)

SNV
Germline

Chr7:775075

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366546284

rs_1778714650

1 SubmittersRCV002432493

NM_001369.3(DNAH5):c.2480G>A (p.Arg827His)

SNV
Germline

Chr5:13891073

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3204571

rs_141969815

3 SubmittersRCV002430784 RCV005415643

NM_001369.3(DNAH5):c.2599C>T (p.Gln867Ter)

SNV
Germline

Chr5:13886108

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Respiratory ciliopathies including non-CF bronchiectasis

Criteria Provided
Multiple Submitters
No Conflicts

CA359196843

rs_1484394072

4 SubmittersRCV002426194 RCV005032273 RCV005254095

NM_001277115.2(DNAH11):c.11062-4A>G

SNV
Germline

Chr7:21854311

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182609

rs_376085865

2 SubmittersRCV002426249

NM_001277115.2(DNAH11):c.10748T>C (p.Leu3583Pro)

SNV
Germline

Chr7:21842600

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366956705

rs_1238887554

2 SubmittersRCV002417215

NM_016616.5(NME8):c.1090G>T (p.Glu364Ter)

SNV
Germline

Chr7:37884398

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 6

Criteria Provided
Conflicting Classifications

CA4222418

rs_150497712

3 SubmittersRCV002446319 RCV003098793

NM_001277115.2(DNAH11):c.11096A>G (p.Asn3699Ser)

SNV
Germline

Chr7:21854349

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182616

rs_370458679

2 SubmittersRCV002428751

NM_017950.4(CCDC40):c.2778C>T (p.Ser926=)

SNV
Germline

Chr17:80089830

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 15

Criteria Provided
Conflicting Classifications

CA8814337

rs_779599093

3 SubmittersRCV002439686 RCV003146570

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_001277115.2(DNAH11):c.2965C>T (p.Arg989Ter)

SNV
Germline

Chr7:21600084

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA366944800

rs_753010997

3 SubmittersRCV002442026 RCV005254099

NM_001369.3(DNAH5):c.2722A>C (p.Asn908His)

SNV
Germline

Chr5:13885985

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204515

rs_139235944

2 SubmittersRCV002431305

NM_001369.3(DNAH5):c.11128C>T (p.Arg3710Cys)

SNV
Germline

Chr5:13751161

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202048

rs_750661309

2 SubmittersRCV002437590

NM_017950.4(CCDC40):c.2920C>T (p.Gln974Ter)

SNV
Germline

Chr17:80095350

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA294876598

rs_977416538

2 SubmittersRCV002439957

NM_003114.5(SPAG1):c.301-2A>G

SNV
Germline

Chr8:100177814

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA371800271

rs_2489308738

1 SubmittersRCV002435790

NM_001277115.2(DNAH11):c.3025C>G (p.Leu1009Val)

SNV
Germline

Chr7:21600700

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179515

rs_542059067

2 SubmittersRCV002435929

NM_001364171.2(ODAD1):c.170+1G>A

SNV
Germline

Chr19:48318712

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA406666454

rs_1326332740

1 SubmittersRCV002463322

NM_001364171.2(ODAD1):c.598-5C>G

SNV
Germline

Chr19:48306328

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA309306873

rs_10416590

2 SubmittersRCV002460785

NM_012472.6(DNAAF11):c.1024C>T (p.Arg342Ter)

SNV
Germline

Chr8:132611314

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 19

Criteria Provided
Multiple Submitters
No Conflicts

CA4881197

rs_150975285

2 SubmittersRCV002461458 RCV003653635

NM_012472.6(DNAAF11):c.328C>T (p.Gln110Ter)

SNV
Germline

Chr8:132638036

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA372295676

rs_777779770

1 SubmittersRCV002461521

NM_001034853.2(RPGR):c.470-1G>A

SNV
Germline

ChrX:38317466

Pathogenic/Likely pathogenic

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412744980

rs_2519889525

2 SubmittersRCV002465117 RCV005098428

NM_000328.3(RPGR):c.2241+5G>A

SNV
Germline

ChrX:38273381

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA640865472

rs_1264379650

2 SubmittersRCV003534902 RCV002465125

NM_001034853.2(RPGR):c.619+5G>C

SNV
Germline

ChrX:38317311

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA2580100809

rs_62638649

2 SubmittersRCV002465128 RCV003534903

NM_001034853.2(RPGR):c.2716G>T (p.Glu906Ter)

SNV
Germline

ChrX:38286283

Pathogenic/Likely pathogenic

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412729953

rs_2067160069

2 SubmittersRCV002465141 RCV003534905

NM_001034853.2(RPGR):c.1443A>C (p.Glu481Asp)

SNV
Germline

ChrX:38291456

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10385478

rs_144863059

3 SubmittersRCV002465153 RCV002573570

NM_001034853.2(RPGR):c.1534G>T (p.Glu512Ter)

SNV
Germline

ChrX:38290997

Pathogenic/Likely pathogenic

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412737643

rs_2519806288

2 SubmittersRCV002465155 RCV002573571

NM_001369.3(DNAH5):c.11456-7C>T

SNV
Germline

Chr5:13735939

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA915940842

rs_2546564339

2 SubmittersRCV002466846 RCV003775491

NM_001277115.2(DNAH11):c.13130C>T (p.Ser4377Phe)

SNV
Germline

Chr7:21899416

Likely pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

CA366955466

rs_759005216

1 SubmittersRCV002466960

NM_017950.4(CCDC40):c.1481G>A (p.Arg494His)

SNV
Germline

Chr17:80065525

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia 15
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8813861

rs_200084360

3 SubmittersRCV002469514 RCV005232989 RCV005308767

NM_001277115.2(DNAH11):c.12064G>C (p.Ala4022Pro)

SNV
Germline

Chr7:21873370

Likely pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

CA155148973

rs_72658819

1 SubmittersRCV002471353

NM_001277115.2(DNAH11):c.7999C>T (p.Gln2667Ter)

SNV
Germline

Chr7:21742011

Pathogenic

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA366951795

rs_1191615331

2 SubmittersRCV002472082 RCV003653638

NM_001277115.2(DNAH11):c.12371T>C (p.Leu4124Ser)

SNV
Germline

Chr7:21880877

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366964219

rs_1388130536

2 SubmittersRCV002472090 RCV003653639

NM_001277115.2(DNAH11):c.4552C>T (p.Gln1518Ter)

SNV
Germline

Chr7:21635922

Pathogenic

Condition: not provided
Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA366933225

rs_369681389

4 SubmittersRCV002508593 RCV003647942 RCV005254107

NM_001277115.2(DNAH11):c.10569-2A>G

SNV
Germline

Chr7:21818215

Likely pathogenic

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA155123096

rs_867382922

2 SubmittersRCV002508725 RCV003534909

NM_001190787.3(MCIDAS):c.607-1G>T

SNV
Germline

Chr5:55221127

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359731709

rs_1745349301

1 SubmittersRCV004798962

NM_001369.3(DNAH5):c.10835T>A (p.Ile3612Asn)

SNV
Germline

Chr5:13753270

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202131

rs_765033981

2 SubmittersRCV003037194

NM_001277115.2(DNAH11):c.10431A>C (p.Arg3477Ser)

SNV
Germline

Chr7:21816565

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182362

rs_578086869

2 SubmittersRCV003058670

NM_001369.3(DNAH5):c.464C>T (p.Ala155Val)

SNV
Germline

Chr5:13922303

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3205171

rs_148837179

3 SubmittersRCV003076653 RCV003615921

NM_001034853.2(RPGR):c.2644G>T (p.Glu882Ter)

SNV
Germline

ChrX:38286355

Pathogenic

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412730140

rs_2519788643

2 SubmittersRCV003071375 RCV003128324

NM_178452.6(DNAAF1):c.1462C>T (p.Arg488Ter)

SNV
Germline

Chr16:84170290

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA285523991

rs_375641621

1 SubmittersRCV003041264

NM_003611.3(OFD1):c.1879T>C (p.Phe627Leu)

SNV
Germline

ChrX:13760339

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351902

rs_752808249

2 SubmittersRCV003064381 RCV005445763

NM_001277115.2(DNAH11):c.11504C>T (p.Ala3835Val)

SNV
Germline

Chr7:21866477

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4182781

rs_72658810

2 SubmittersRCV003070829 RCV004817206

NM_080860.4(RSPH1):c.376G>A (p.Gly126Ser)

SNV
Germline

Chr21:42485794

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA321555688

rs_1037411448

1 SubmittersRCV003070858

NM_012144.4(DNAI1):c.901+1G>T

SNV
Germline

Chr9:34497200

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA192635113

rs_908149058

1 SubmittersRCV003073909

NM_012144.4(DNAI1):c.501+1G>T

SNV
Germline

Chr9:34490125

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373246362

rs_1824556879

1 SubmittersRCV003067146

NM_012472.6(DNAAF11):c.974+1G>T

SNV
Germline

Chr8:132615037

Pathogenic

Primary ciliary dyskinesia 19

Criteria Provided
Single Submitter

CA372293485

rs_2537813639

1 SubmittersRCV003065482

NM_018076.5(ODAD2):c.1003G>T (p.Glu335Ter)

SNV
Germline

Chr10:27971247

Pathogenic

Primary ciliary dyskinesia 23

Criteria Provided
Multiple Submitters
No Conflicts

CA5453655

rs_771640361

2 SubmittersRCV003058379

NM_001369.3(DNAH5):c.2914A>C (p.Lys972Gln)

SNV
Germline

Chr5:13885058

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204456

rs_776671484

2 SubmittersRCV003058442

NM_001277115.2(DNAH11):c.10399G>T (p.Ala3467Ser)

SNV
Germline

Chr7:21816533

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366948278

rs_2214326

2 SubmittersRCV003076326

NM_003611.3(OFD1):c.2940G>C (p.Lys980Asn)

SNV
Germline

ChrX:13768729

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Orofaciodigital syndrome I
Retinitis pigmentosa 23

Criteria Provided
Conflicting Classifications

CA10352116

rs_762218314

3 SubmittersRCV003076358 RCV004823092 RCV005045213

NM_001369.3(DNAH5):c.7601C>T (p.Ala2534Val)

SNV
Germline

Chr5:13810067

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203069

rs_773382166

2 SubmittersRCV003081301

NM_001369.3(DNAH5):c.9685A>G (p.Lys3229Glu)

SNV
Germline

Chr5:13769536

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202469

rs_561380021

4 SubmittersRCV003063689 RCV003227082 RCV004577027

NM_001256715.2(DNAAF3):c.553C>T (p.Pro185Ser)

SNV
Germline

Chr19:55161753

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA310153960

rs_1018709493

2 SubmittersRCV003065299

NM_001034853.2(RPGR):c.2965G>T (p.Glu989Ter)

SNV
Germline

ChrX:38286034

Pathogenic

Primary ciliary dyskinesia
Condition: not provided
RPGR-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA412729341

rs_1199880148

3 SubmittersRCV003041437 RCV003223767 RCV003898716

NM_001034853.2(RPGR):c.2614G>T (p.Glu872Ter)

SNV
Germline

ChrX:38286385

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412730220

rs_2519789004

1 SubmittersRCV003064700

NM_001034853.2(RPGR):c.2437G>T (p.Glu813Ter)

SNV
Germline

ChrX:38286562

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412730640

rs_2519790959

2 SubmittersRCV003064701 RCV003889215

NM_001034853.2(RPGR):c.2212G>T (p.Gly738Ter)

SNV
Germline

ChrX:38286787

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412731175

rs_2519792921

1 SubmittersRCV003064702

NM_001034853.2(RPGR):c.2007G>A (p.Trp669Ter)

SNV
Germline

ChrX:38286992

Pathogenic

Primary ciliary dyskinesia
Retinal dystrophy
RPGR-related retinopathy

Reviewed By Expert Panel

CA412731784

rs_2519794257

3 SubmittersRCV003064703 RCV003889216 RCV005623499

NM_001034853.2(RPGR):c.1591G>T (p.Glu531Ter)

SNV
Germline

ChrX:38288023

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412737501

rs_2519798980

1 SubmittersRCV003041438

NM_001034853.2(RPGR):c.1245+1G>T

SNV
Germline

ChrX:38298955

Pathogenic

Primary ciliary dyskinesia
Retinal dystrophy

Criteria Provided
Single Submitter

CA412739703

rs_2147232242

2 SubmittersRCV003064704 RCV004817204

NM_001034853.2(RPGR):c.814G>T (p.Gly272Cys)

SNV
Germline

ChrX:38304755

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412741630

rs_2519847311

1 SubmittersRCV003064705

NM_001034853.2(RPGR):c.350G>A (p.Gly117Glu)

SNV
Germline

ChrX:38318948

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412745249

rs_2519895135

1 SubmittersRCV003064706

NM_001034853.2(RPGR):c.248-1G>T

SNV
Germline

ChrX:38321090

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412745483

rs_2519902491

1 SubmittersRCV003050608

NM_001369.3(DNAH5):c.12037C>T (p.Arg4013Cys)

SNV
Germline

Chr5:13721242

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3201748

rs_148349630

2 SubmittersRCV003073666 RCV004775279

NM_001277115.2(DNAH11):c.7729G>A (p.Asp2577Asn)

SNV
Germline

Chr7:21738784

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4181334

rs_770532527

3 SubmittersRCV003053094 RCV003443113

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_023036.6(DNAI2):c.1288G>A (p.Gly430Arg)

SNV
Germline

Chr17:74309329

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 9

Criteria Provided
Conflicting Classifications

CA8745684

rs_765285682

3 SubmittersRCV003077091 RCV005433309

NM_001369.3(DNAH5):c.1981C>T (p.Arg661Cys)

SNV
Germline

Chr5:13901323

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204703

rs_763771549

2 SubmittersRCV003068911

NM_001369.3(DNAH5):c.2577+1G>A

SNV
Germline

Chr5:13890975

Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA359198834

rs_867422125

2 SubmittersRCV003077641 RCV005034646

NM_001277115.2(DNAH11):c.10091G>A (p.Arg3364Gln)

SNV
Germline

Chr7:21801201

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182228

rs_369682703

2 SubmittersRCV003072114

NM_001034853.2(RPGR):c.2617G>T (p.Glu873Ter)

SNV
Germline

ChrX:38286382

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412730212

rs_2519788962

1 SubmittersRCV003075630

NM_001277115.2(DNAH11):c.4273G>T (p.Glu1425Ter)

SNV
Germline

Chr7:21619118

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA366952526

rs_1448862370

2 SubmittersRCV003069757 RCV005034661

NM_001369.3(DNAH5):c.769A>G (p.Met257Val)

SNV
Germline

Chr5:13920509

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3205104

rs_759576627

2 SubmittersRCV003079897

NM_001369.3(DNAH5):c.13729C>T (p.Arg4577Ter)

SNV
Germline

Chr5:13692130

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359188775

rs_1365275304

1 SubmittersRCV003086122

NM_001277115.2(DNAH11):c.9089C>A (p.Thr3030Asn)

SNV
Germline

Chr7:21765576

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181837

rs_202014541

2 SubmittersRCV003074736

NM_001369.3(DNAH5):c.11785G>A (p.Ala3929Thr)

SNV
Germline

Chr5:13729537

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA359220348

rs_1167911121

2 SubmittersRCV003092343

NM_001277115.2(DNAH11):c.10669A>G (p.Arg3557Gly)

SNV
Germline

Chr7:21818317

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182431

rs_375507992

2 SubmittersRCV003069106

NM_001364171.2(ODAD1):c.151C>T (p.Gln51Ter)

SNV
Germline

Chr19:48318732

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA406666498

rs_1357552630

1 SubmittersRCV003069178

NM_001369.3(DNAH5):c.3487A>C (p.Ser1163Arg)

SNV
Germline

Chr5:13871675

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204248

rs_774760728

2 SubmittersRCV003072908

NM_178452.6(DNAAF1):c.649C>T (p.Gln217Ter)

SNV
Germline

Chr16:84155657

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA8202561

rs_201630226

1 SubmittersRCV003087818

NM_001369.3(DNAH5):c.2432-1G>C

SNV
Germline

Chr5:13891122

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359199919

rs_2547057734

1 SubmittersRCV003070528

NM_001369.3(DNAH5):c.4664G>A (p.Trp1555Ter)

SNV
Germline

Chr5:13862680

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3203917

rs_752620318

1 SubmittersRCV003079059

NM_001034853.2(RPGR):c.1600C>T (p.Gln534Ter)

SNV
Germline

ChrX:38288014

Pathogenic

Primary ciliary dyskinesia
Retinitis pigmentosa 3

Criteria Provided
Multiple Submitters
No Conflicts

CA412737481

rs_2519798907

2 SubmittersRCV003079244 RCV003989145

NM_001034853.2(RPGR):c.247+2T>C

SNV
Germline

ChrX:38322851

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412745488

rs_2519909164

1 SubmittersRCV003075000

NM_001034853.2(RPGR):c.93G>A (p.Trp31Ter)

SNV
Germline

ChrX:38323460

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412745922

rs_2519912364

1 SubmittersRCV003075001

NM_001369.3(DNAH5):c.8782A>G (p.Met2928Val)

SNV
Germline

Chr5:13786217

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA113954266

rs_946953944

2 SubmittersRCV003072491

NM_001277115.2(DNAH11):c.8143A>G (p.Asn2715Asp)

SNV
Germline

Chr7:21742155

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181466

rs_549585242

2 SubmittersRCV002581945

NM_145038.5(DRC1):c.357-2A>G

SNV
Germline

Chr2:26424269

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA346098711

rs_2465381819

1 SubmittersRCV002595100

NM_001369.3(DNAH5):c.646A>G (p.Ser216Gly)

SNV
Germline

Chr5:13922121

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3205136

rs_757602565

2 SubmittersRCV003082199

NM_178452.6(DNAAF1):c.58C>T (p.Gln20Ter)

SNV
Germline

Chr16:84145498

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA396938028

rs_2086855300

1 SubmittersRCV003080137

NM_001369.3(DNAH5):c.7273C>T (p.Arg2425Cys)

SNV
Germline

Chr5:13811781

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203136

rs_376707969

2 SubmittersRCV003095347

NM_001369.3(DNAH5):c.5710-6T>A

SNV
Germline

Chr5:13839534

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA2501982442

rs_2546903479

1 SubmittersRCV002581874

NM_001206927.2(DNAH8):c.3268C>T (p.Arg1090Ter)

SNV
Germline

Chr6:38814064

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Spermatogenic failure 46

Criteria Provided
Multiple Submitters
No Conflicts

CA3788787

rs_199969537

2 SubmittersRCV002579020 RCV005356284

NM_001034853.2(RPGR):c.2764G>T (p.Glu922Ter)

SNV
Germline

ChrX:38286235

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412729836

rs_2519787265

1 SubmittersRCV002602708

NM_003611.3(OFD1):c.1300A>G (p.Met434Val)

SNV
Germline

ChrX:13756656

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA412342682

rs_1191893961

2 SubmittersRCV002598892 RCV005455703

NM_001369.3(DNAH5):c.10138G>T (p.Glu3380Ter)

SNV
Germline

Chr5:13762865

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359198813

rs_1751975175

1 SubmittersRCV003073377

NM_001369.3(DNAH5):c.12644C>T (p.Ala4215Val)

SNV
Germline

Chr5:13717376

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
DNAH5-related disorder

Criteria Provided
Conflicting Classifications

CA3201575

rs_200969063

3 SubmittersRCV003081983 RCV003420330

NM_001277115.2(DNAH11):c.9790C>G (p.Pro3264Ala)

SNV
Germline

Chr7:21787449

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA366941370

rs_571709285

3 SubmittersRCV003089965 RCV004738675

NM_001369.3(DNAH5):c.2137C>T (p.Gln713Ter)

SNV
Germline

Chr5:13900328

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA359203646

rs_2547087810

2 SubmittersRCV003084427 RCV005034683

NM_001277115.2(DNAH11):c.1915C>T (p.Gln639Ter)

SNV
Germline

Chr7:21588578

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4179154

rs_200073714

4 SubmittersRCV003082748 RCV005034690

NM_001256715.2(DNAAF3):c.85+2T>G

SNV
Germline

Chr19:55166327

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA407462947

rs_1263006158

1 SubmittersRCV003095613

NM_001277115.2(DNAH11):c.11570G>A (p.Trp3857Ter)

SNV
Germline

Chr7:21866543

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366961981

rs_2535505726

1 SubmittersRCV003090581

NM_001369.3(DNAH5):c.1669G>A (p.Val557Ile)

SNV
Germline

Chr5:13902114

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA359208467

rs_1241187163

2 SubmittersRCV003083119 RCV004765673

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_001369.3(DNAH5):c.3304C>T (p.Gln1102Ter)

SNV
Germline

Chr5:13876776

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3204315

rs_774143246

1 SubmittersRCV002599958

NM_001277115.2(DNAH11):c.11426G>A (p.Arg3809Gln)

SNV
Germline

Chr7:21864587

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182745

rs_753081155

2 SubmittersRCV002623499

NM_001369.3(DNAH5):c.1081A>C (p.Ser361Arg)

SNV
Germline

Chr5:13917151

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204977

rs_756837998

2 SubmittersRCV002599453

NM_001369.3(DNAH5):c.2022G>C (p.Glu674Asp)

SNV
Germline

Chr5:13901282

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204699

rs_202042110

2 SubmittersRCV002619092

NM_001206927.2(DNAH8):c.551C>T (p.Ala184Val)

SNV
Germline

Chr6:38729927

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA3787971

rs_368460226

2 SubmittersRCV002602734 RCV005542948

NM_001034853.2(RPGR):c.1607C>T (p.Thr536Ile)

SNV
Germline

ChrX:38288007

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA412737465

rs_1380365858

2 SubmittersRCV002619223

NM_001277115.2(DNAH11):c.5974T>C (p.Phe1992Leu)

SNV
Germline

Chr7:21690814

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180624

rs_776830736

2 SubmittersRCV002596164

NM_001369.3(DNAH5):c.7018C>A (p.Pro2340Thr)

SNV
Germline

Chr5:13814817

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3203194

rs_202082284

2 SubmittersRCV002620449 RCV005356297

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_012144.4(DNAI1):c.658A>G (p.Asn220Asp)

SNV
Germline

Chr9:34491531

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA5034138

rs_201974671

2 SubmittersRCV002620175

NM_001369.3(DNAH5):c.11129G>A (p.Arg3710His)

SNV
Germline

Chr5:13751160

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202046

rs_954286214

2 SubmittersRCV002585592

NM_001369.3(DNAH5):c.4773G>T (p.Leu1591Phe)

SNV
Germline

Chr5:13862571

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA113973049

rs_970151715

2 SubmittersRCV002591754

NM_003114.5(SPAG1):c.1097-11C>G

SNV
Germline

Chr8:100213079

Pathogenic

Primary ciliary dyskinesia 28
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4827463

rs_751103088

2 SubmittersRCV002591755 RCV004721114

NM_001369.3(DNAH5):c.3438C>G (p.His1146Gln)

SNV
Germline

Chr5:13871724

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204267

rs_779321133

2 SubmittersRCV002615094

NM_001369.3(DNAH5):c.1028A>G (p.Asp343Gly)

SNV
Germline

Chr5:13917204

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204984

rs_778204627

2 SubmittersRCV002647397

NM_001277115.2(DNAH11):c.529C>T (p.His177Tyr)

SNV
Germline

Chr7:21558835

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366932315

rs_752016007

2 SubmittersRCV002637233

NM_001369.3(DNAH5):c.12046A>C (p.Ile4016Leu)

SNV
Germline

Chr5:13721233

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA113920855

rs_144287016

2 SubmittersRCV002640326

NM_001369.3(DNAH5):c.12206A>T (p.Glu4069Val)

SNV
Germline

Chr5:13721073

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201713

rs_770252526

2 SubmittersRCV002629626

NM_017950.4(CCDC40):c.1040A>G (p.Lys347Arg)

SNV
Germline

Chr17:80050164

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8813660

rs_778572911

2 SubmittersRCV002620982

NM_001369.3(DNAH5):c.4309G>A (p.Val1437Met)

SNV
Germline

Chr5:13865714

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA359224652

rs_1390327836

2 SubmittersRCV002624201

NM_001369.3(DNAH5):c.3446A>G (p.Gln1149Arg)

SNV
Germline

Chr5:13871716

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204264

rs_780846691

2 SubmittersRCV002650873

NM_001369.3(DNAH5):c.9878A>C (p.Glu3293Ala)

SNV
Germline

Chr5:13768979

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3202412

rs_542064804

3 SubmittersRCV002637783 RCV005623504

NM_001369.3(DNAH5):c.5539A>G (p.Arg1847Gly)

SNV
Germline

Chr5:13841076

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203643

rs_774073166

2 SubmittersRCV002634111

NM_017950.4(CCDC40):c.677-2A>G

SNV
Germline

Chr17:80048581

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA8813544

rs_752419274

1 SubmittersRCV002634121

NM_001369.3(DNAH5):c.1586G>A (p.Arg529Gln)

SNV
Germline

Chr5:13911444

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3204807

rs_761289479

4 SubmittersRCV002620609 RCV003143516 RCV004823115

NM_001277115.2(DNAH11):c.6073C>G (p.Leu2025Val)

SNV
Germline

Chr7:21698106

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180680

rs_368561050

2 SubmittersRCV002651123

NM_001277115.2(DNAH11):c.1444T>G (p.Leu482Val)

SNV
Germline

Chr7:21571824

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4178988

rs_575246582

2 SubmittersRCV002629185 RCV004790391

NM_001369.3(DNAH5):c.13222C>G (p.Arg4408Gly)

SNV
Germline

Chr5:13708239

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201420

rs_150046963

2 SubmittersRCV002629443

NM_178452.6(DNAAF1):c.155G>A (p.Gly52Asp)

SNV
Germline

Chr16:84149037

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8202387

rs_146725281

2 SubmittersRCV002654583

NM_001034853.2(RPGR):c.1282C>G (p.Leu428Val)

SNV
Germline

ChrX:38297416

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10385496

rs_182345461

2 SubmittersRCV002625206 RCV003128328

NM_003611.3(OFD1):c.2372C>T (p.Pro791Leu)

SNV
Germline

ChrX:13761196

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Retinal dystrophy
Primary ciliary dyskinesia
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Retinitis pigmentosa 23
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA10351984

rs_753498008

4 SubmittersRCV002625211 RCV003889261 RCV004823119 RCV005045360

NM_001277115.2(DNAH11):c.3775G>A (p.Ala1259Thr)

SNV
Germline

Chr7:21606656

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179759

rs_763751899

2 SubmittersRCV002625232

NM_001369.3(DNAH5):c.11739A>C (p.Glu3913Asp)

SNV
Germline

Chr5:13735153

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3201866

rs_748787177

2 SubmittersRCV002647744 RCV004812473

NM_001369.3(DNAH5):c.7407+4A>C

SNV
Germline

Chr5:13811643

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA557876747

rs_1313931851

2 SubmittersRCV002512446 RCV003615919

NM_001034853.2(RPGR):c.1561C>T (p.Gln521Ter)

SNV
Germline

ChrX:38290970

Pathogenic

Condition: not provided
Primary ciliary dyskinesia
Retinal dystrophy
RPGR-related retinopathy

Reviewed By Expert Panel

CA412737582

rs_755725531

4 SubmittersRCV003128330 RCV003114987 RCV003889278 RCV005623513

NM_001369.3(DNAH5):c.9151G>A (p.Asp3051Asn)

SNV
Germline

Chr5:13776661

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA359209528

rs_1171709721

2 SubmittersRCV003111682

NM_145038.5(DRC1):c.391C>T (p.Gln131Ter)

SNV
Germline

Chr2:26424305

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA346098902

rs_2465381898

1 SubmittersRCV003121730

NM_001277115.2(DNAH11):c.10977G>A (p.Ala3659=)

SNV
Germline

Chr7:21852547

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4182566

rs_778096489

2 SubmittersRCV003110422 RCV003228139

NM_017802.4(DNAAF5):c.11T>C (p.Leu4Pro)

SNV
Germline

Chr7:726731

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366529571

rs_1314198845

2 SubmittersRCV003108521

NM_012472.6(DNAAF11):c.1A>G (p.Met1Val)

SNV
Germline

Chr8:132675493

Pathogenic

Primary ciliary dyskinesia 19

Criteria Provided
Single Submitter

CA372296489

rs_2538396993

1 SubmittersRCV003115882

NM_001369.3(DNAH5):c.9022G>A (p.Gly3008Arg)

SNV
Germline

Chr5:13777285

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA359210931

rs_1348742926

2 SubmittersRCV003117129

NM_001277115.2(DNAH11):c.259C>T (p.Arg87Trp)

SNV
Germline

Chr7:21543504

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178641

rs_560422553

2 SubmittersRCV002572146

NM_012144.4(DNAI1):c.1019G>A (p.Trp340Ter)

SNV
Germline

Chr9:34500839

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Kartagener syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA373253445

rs_2132072131

2 SubmittersRCV002573144 RCV003614200

NM_001277115.2(DNAH11):c.11875T>G (p.Phe3959Val)

SNV
Germline

Chr7:21868899

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182906

rs_374323457

2 SubmittersRCV002583599

NM_178452.6(DNAAF1):c.1618G>T (p.Glu540Ter)

SNV
Germline

Chr16:84172349

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA396949225

rs_752285725

1 SubmittersRCV002583654

NM_023036.6(DNAI2):c.1028T>G (p.Ile343Ser)

SNV
Germline

Chr17:74305259

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA400909816

rs_2509752143

1 SubmittersRCV002589246

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_001277115.2(DNAH11):c.58C>T (p.Arg20Cys)

SNV
Germline

Chr7:21543303

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4178610

rs_72655967

2 SubmittersRCV002569676 RCV004786725

NM_001369.3(DNAH5):c.9962G>A (p.Arg3321Gln)

SNV
Germline

Chr5:13766115

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202367

rs_750927507

2 SubmittersRCV002570854

NM_001277115.2(DNAH11):c.10064T>C (p.Phe3355Ser)

SNV
Germline

Chr7:21801174

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182222

rs_757740647

2 SubmittersRCV002583546

NM_001277115.2(DNAH11):c.10333-1G>A

SNV
Germline

Chr7:21816466

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366947956

rs_769279343

1 SubmittersRCV002578340

NM_001369.3(DNAH5):c.12409C>T (p.Gln4137Ter)

SNV
Germline

Chr5:13718972

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359210248

rs_192894455

1 SubmittersRCV002593310

NM_001277115.2(DNAH11):c.7727A>G (p.Asp2576Gly)

SNV
Germline

Chr7:21738782

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366950311

rs_2535096116

1 SubmittersRCV002617359

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_001369.3(DNAH5):c.11617G>A (p.Glu3873Lys)

SNV
Germline

Chr5:13735275

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201890

rs_770233429

2 SubmittersRCV002613435

NM_001369.3(DNAH5):c.13409C>T (p.Ser4470Leu)

SNV
Germline

Chr5:13701366

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201374

rs_146051262

2 SubmittersRCV002589569

NM_003611.3(OFD1):c.2672G>A (p.Arg891Lys)

SNV
Germline

ChrX:13767199

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Retinitis pigmentosa 23
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA10352062

rs_769469366

3 SubmittersRCV002589811 RCV004823043 RCV005042887

NM_017802.4(DNAAF5):c.757C>T (p.Arg253Ter)

SNV
Germline

Chr7:729824

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 18

Criteria Provided
Multiple Submitters
No Conflicts

CA366532159

rs_1781507295

2 SubmittersRCV002597713 RCV005356155

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_001369.3(DNAH5):c.12279+1G>A

SNV
Germline

Chr5:13720999

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3201697

rs_765520656

1 SubmittersRCV002594447

NM_001034853.2(RPGR):c.1810C>T (p.Gln604Ter)

SNV
Germline

ChrX:38287189

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412732837

rs_2519795201

1 SubmittersRCV002601899

NM_001369.3(DNAH5):c.13223G>A (p.Arg4408His)

SNV
Germline

Chr5:13708238

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201418

rs_202034094

2 SubmittersRCV002590951

NM_001369.3(DNAH5):c.9106-1G>A

SNV
Germline

Chr5:13776707

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3202612

rs_757846582

2 SubmittersRCV002618653

NM_001369.3(DNAH5):c.6061+1G>A

SNV
Germline

Chr5:13830596

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3203496

rs_772658660

1 SubmittersRCV002635316

NM_003611.3(OFD1):c.1809G>T (p.Met603Ile)

SNV
Germline

ChrX:13760269

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351894

rs_771742424

2 SubmittersRCV002625973 RCV004065845

NM_001369.3(DNAH5):c.12705+1G>T

SNV
Germline

Chr5:13717314

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3201563

rs_779993876

1 SubmittersRCV002614723

NM_001277115.2(DNAH11):c.9816T>G (p.Asn3272Lys)

SNV
Germline

Chr7:21787475

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366941479

rs_779389497

2 SubmittersRCV002614668

NM_001369.3(DNAH5):c.8261G>A (p.Gly2754Asp)

SNV
Germline

Chr5:13792181

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202854

rs_546101625

2 SubmittersRCV002653001

NM_001206927.2(DNAH8):c.4198C>T (p.Gln1400Ter)

SNV
Germline

Chr6:38832331

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3789067

rs_753062783

1 SubmittersRCV002662549

NM_001034853.2(RPGR):c.1579C>T (p.Gln527Ter)

SNV
Germline

ChrX:38288035

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412737524

rs_1601926772

1 SubmittersRCV002667144

NM_001369.3(DNAH5):c.13465C>T (p.Gln4489Ter)

SNV
Germline

Chr5:13701310

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359192420

rs_2546469244

1 SubmittersRCV002662473

NM_001369.3(DNAH5):c.9489T>G (p.Tyr3163Ter)

SNV
Germline

Chr5:13770865

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359204700

rs_185605880

1 SubmittersRCV002662497

NM_001369.3(DNAH5):c.2456G>C (p.Arg819Thr)

SNV
Germline

Chr5:13891097

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204581

rs_200486203

2 SubmittersRCV002643548

NM_001277115.2(DNAH11):c.11104C>T (p.Arg3702Ter)

SNV
Germline

Chr7:21854357

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA155123584

rs_375983999

2 SubmittersRCV002695435 RCV004817097

NM_001277115.2(DNAH11):c.8578G>A (p.Gly2860Ser)

SNV
Germline

Chr7:21748647

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4181652

rs_377630570

3 SubmittersRCV002695588 RCV005254128

NM_001034853.2(RPGR):c.334G>A (p.Gly112Ser)

SNV
Germline

ChrX:38318964

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412745288

rs_2519895230

1 SubmittersRCV002726275

NM_001369.3(DNAH5):c.7596T>A (p.Tyr2532Ter)

SNV
Germline

Chr5:13810072

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359231351

rs_920106420

1 SubmittersRCV002715233

NM_001369.3(DNAH5):c.11913T>G (p.Ile3971Met)

SNV
Germline

Chr5:13727627

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201795

rs_147531607

2 SubmittersRCV002725516

NM_001369.3(DNAH5):c.6025C>T (p.Gln2009Ter)

SNV
Germline

Chr5:13830633

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359202312

rs_1763540075

1 SubmittersRCV002716328

NM_017802.4(DNAAF5):c.218G>A (p.Trp73Ter)

SNV
Germline

Chr7:726938

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366529996

rs_915848808

1 SubmittersRCV002691106

NM_145045.5(ODAD3):c.367-1G>A

SNV
Germline

Chr19:11430777

Likely pathogenic

Primary ciliary dyskinesia 30

Criteria Provided
Single Submitter

CA404126974

rs_1186608353

1 SubmittersRCV002701498

NM_001034853.2(RPGR):c.1068T>A (p.Cys356Ter)

SNV
Germline

ChrX:38299133

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412740076

rs_2519829828

1 SubmittersRCV002760609

NM_018076.5(ODAD2):c.820-1G>A

SNV
Germline

Chr10:27981583

Likely pathogenic

Primary ciliary dyskinesia 23

Criteria Provided
Single Submitter

CA204531663

rs_988722926

1 SubmittersRCV002712130

NM_001277115.2(DNAH11):c.812A>G (p.His271Arg)

SNV
Germline

Chr7:21559722

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA366932943

rs_1240440566

2 SubmittersRCV002735690 RCV003319530

NM_017950.4(CCDC40):c.2711+1G>A

SNV
Germline

Chr17:80088103

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA401349890

rs_2143755133

1 SubmittersRCV002711773

NM_001369.3(DNAH5):c.12212G>A (p.Arg4071His)

SNV
Germline

Chr5:13721067

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3201709

rs_745403938

2 SubmittersRCV002735934 RCV004593056

NM_001369.3(DNAH5):c.5246T>C (p.Ile1749Thr)

SNV
Germline

Chr5:13844862

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA359213795

rs_770108485

2 SubmittersRCV002731590

NM_001369.3(DNAH5):c.13491+1G>A

SNV
Germline

Chr5:13701283

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359192347

rs_2546469118

1 SubmittersRCV002745513

NM_001369.3(DNAH5):c.3344A>G (p.Glu1115Gly)

SNV
Germline

Chr5:13876736

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA113926943

rs_1004254149

2 SubmittersRCV002760246

NM_001034853.2(RPGR):c.1414+1G>A

SNV
Germline

ChrX:38297283

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412739327

rs_2519822407

1 SubmittersRCV002740736

NM_001369.3(DNAH5):c.7753-1G>T

SNV
Germline

Chr5:13807726

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA359229126

rs_2546794222

2 SubmittersRCV002761704 RCV005044971

NM_001277115.2(DNAH11):c.5037G>A (p.Met1679Ile)

SNV
Germline

Chr7:21655924

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180269

rs_764579746

2 SubmittersRCV002751182

NM_001369.3(DNAH5):c.6841+1G>A

SNV
Germline

Chr5:13820345

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359194648

rs_2151814082

1 SubmittersRCV002800274

NM_001277115.2(DNAH11):c.6530G>A (p.Gly2177Asp)

SNV
Germline

Chr7:21705521

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366938250

rs_1190251540

1 SubmittersRCV002805480

NM_001277115.2(DNAH11):c.1042T>C (p.Cys348Arg)

SNV
Germline

Chr7:21564245

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178886

rs_371654954

2 SubmittersRCV002765950

NM_001369.3(DNAH5):c.7168G>A (p.Val2390Ile)

SNV
Germline

Chr5:13814667

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3203165

rs_751936457

2 SubmittersRCV002756739 RCV003234207

NM_001369.3(DNAH5):c.2090T>A (p.Leu697Ter)

SNV
Germline

Chr5:13900375

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359203811

rs_1554096143

1 SubmittersRCV002800242

NM_001369.3(DNAH5):c.11038G>T (p.Gly3680Cys)

SNV
Germline

Chr5:13751251

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202062

rs_777140914

3 SubmittersRCV002785829 RCV005233016

NM_001277115.2(DNAH11):c.6210T>G (p.Ile2070Met)

SNV
Germline

Chr7:21702739

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180732

rs_773630976

2 SubmittersRCV002756628

NM_001277115.2(DNAH11):c.11203-2A>G

SNV
Germline

Chr7:21861851

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA155135542

rs_1017444476

1 SubmittersRCV002780834

NM_001369.3(DNAH5):c.925G>A (p.Val309Met)

SNV
Germline

Chr5:13919226

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3205036

rs_776025009

2 SubmittersRCV002771062

NM_001277115.2(DNAH11):c.6763T>C (p.Trp2255Arg)

SNV
Germline

Chr7:21710632

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366940424

rs_2534986391

1 SubmittersRCV002750935

NM_001256715.2(DNAAF3):c.1421C>T (p.Pro474Leu)

SNV
Germline

Chr19:55159267

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA310152109

rs_200919669

2 SubmittersRCV002756260

NM_001277115.2(DNAH11):c.10352A>G (p.Glu3451Gly)

SNV
Germline

Chr7:21816486

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA366948030

rs_1250266065

2 SubmittersRCV002795209 RCV003435827

NM_012144.4(DNAI1):c.397G>T (p.Glu133Ter)

SNV
Germline

Chr9:34490020

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Kartagener syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA373245574

rs_2492033381

2 SubmittersRCV002770098 RCV005044976

NM_001369.3(DNAH5):c.12028G>A (p.Ala4010Thr)

SNV
Germline

Chr5:13727512

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201775

rs_758777667

2 SubmittersRCV002756566

NM_001369.3(DNAH5):c.2779T>C (p.Ser927Pro)

SNV
Germline

Chr5:13885193

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204483

rs_752452948

2 SubmittersRCV002770261

NM_001369.3(DNAH5):c.971T>C (p.Leu324Pro)

SNV
Germline

Chr5:13919180

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3205023

rs_138034431

2 SubmittersRCV002780560 RCV004546746

NM_001369.3(DNAH5):c.4736C>T (p.Ser1579Leu)

SNV
Germline

Chr5:13862608

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203904

rs_184151103

2 SubmittersRCV002770726

NM_001034853.2(RPGR):c.430C>T (p.Gln144Ter)

SNV
Germline

ChrX:38318868

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412745065

rs_2519894537

2 SubmittersRCV002814827 RCV003128316

NM_016616.5(NME8):c.1417G>A (p.Val473Ile)

SNV
Germline

Chr7:37894483

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 6
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA367216604

rs_1176910976

2 SubmittersRCV002820054 RCV005445703

NM_001369.3(DNAH5):c.5114+1G>A

SNV
Germline

Chr5:13850651

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359216343

rs_878854457

1 SubmittersRCV002823799

NM_001034853.2(RPGR):c.3250G>T (p.Glu1084Ter)

SNV
Germline

ChrX:38285749

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412727547

rs_2519780558

1 SubmittersRCV002810181

NM_001277115.2(DNAH11):c.4378-1G>A

SNV
Germline

Chr7:21619955

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366952758

rs_2534710940

1 SubmittersRCV002815677

NM_001034853.2(RPGR):c.3313A>T (p.Lys1105Ter)

SNV
Germline

ChrX:38285686

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412727175

rs_2519780233

1 SubmittersRCV002833216

NM_080860.4(RSPH1):c.502-1G>A

SNV
Germline

Chr21:42482709

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA410364837

rs_2517340869

1 SubmittersRCV002820672

NM_001034853.2(RPGR):c.2953G>T (p.Glu985Ter)

SNV
Germline

ChrX:38286046

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412729369

rs_2519784367

1 SubmittersRCV002819686

NM_001034853.2(RPGR):c.2482G>T (p.Glu828Ter)

SNV
Germline

ChrX:38286517

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Retinal dystrophy
Retinitis pigmentosa 3

Criteria Provided
Multiple Submitters
No Conflicts

CA412730538

rs_2519790541

3 SubmittersRCV002810681 RCV004817123 RCV005254135

NM_001369.3(DNAH5):c.6754C>T (p.Gln2252Ter)

SNV
Germline

Chr5:13820433

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359194855

rs_2546843576

1 SubmittersRCV002815973

NM_001369.3(DNAH5):c.11810G>A (p.Trp3937Ter)

SNV
Germline

Chr5:13729512

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359220131

rs_527387894

1 SubmittersRCV002843103

NM_145038.5(DRC1):c.1600-2A>G

SNV
Germline

Chr2:26450590

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA1562340

rs_748345425

1 SubmittersRCV002846869

NM_018076.5(ODAD2):c.936+1G>T

SNV
Germline

Chr10:27981465

Likely pathogenic

Primary ciliary dyskinesia 23

Criteria Provided
Single Submitter

CA376395111

rs_1237311934

1 SubmittersRCV002811954

NM_001369.3(DNAH5):c.11389C>T (p.Gln3797Ter)

SNV
Germline

Chr5:13737318

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA359226336

rs_1467939954

2 SubmittersRCV002838695 RCV005034441

NM_001277115.2(DNAH11):c.7915-1G>A

SNV
Germline

Chr7:21741926

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366951606

rs_2535107151

1 SubmittersRCV002856562

NM_001369.3(DNAH5):c.4597-2A>T

SNV
Germline

Chr5:13862749

Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA3203922

rs_756687157

2 SubmittersRCV002839412 RCV005034444

NM_001277115.2(DNAH11):c.10311G>A (p.Trp3437Ter)

SNV
Germline

Chr7:21808028

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366946576

rs_2535331758

1 SubmittersRCV002835126

NM_012144.4(DNAI1):c.92C>G (p.Ser31Ter)

SNV
Germline

Chr9:34485152

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373241807

rs_2492025436

1 SubmittersRCV002833760

NM_001206927.2(DNAH8):c.3139G>T (p.Glu1047Ter)

SNV
Germline

Chr6:38805585

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA363995660

rs_2532519909

1 SubmittersRCV002837619

NM_012144.4(DNAI1):c.718A>T (p.Lys240Ter)

SNV
Germline

Chr9:34493230

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373249072

rs_2492044745

1 SubmittersRCV002843512

NM_003114.5(SPAG1):c.1024C>T (p.Gln342Ter)

SNV
Germline

Chr8:100194196

Pathogenic

Primary ciliary dyskinesia 28

Criteria Provided
Single Submitter

CA371804680

rs_2489349339

1 SubmittersRCV002861610

NM_017802.4(DNAAF5):c.1258-2A>G

SNV
Germline

Chr7:756780

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366537796

rs_1782497993

1 SubmittersRCV002835363

NM_001034853.2(RPGR):c.2803G>T (p.Glu935Ter)

SNV
Germline

ChrX:38286196

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412729742

rs_2519786858

1 SubmittersRCV002866168

NM_001206927.2(DNAH8):c.10309-1G>A

SNV
Germline

Chr6:38917924

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA137579827

rs_201009563

1 SubmittersRCV002866859

NM_001369.3(DNAH5):c.12280-1G>A

SNV
Germline

Chr5:13719102

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359211806

rs_2546519097

1 SubmittersRCV002847529

NM_001369.3(DNAH5):c.6494T>A (p.Leu2165Ter)

SNV
Germline

Chr5:13824284

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359197760

rs_1762613802

1 SubmittersRCV002847652

NM_012144.4(DNAI1):c.43A>T (p.Lys15Ter)

SNV
Germline

Chr9:34459048

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373247895

rs_2491983663

1 SubmittersRCV002847671

NM_001034853.2(RPGR):c.2992G>T (p.Glu998Ter)

SNV
Germline

ChrX:38286007

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412729267

rs_2067131596

1 SubmittersRCV002881353

NM_001369.3(DNAH5):c.10396G>A (p.Glu3466Lys)

SNV
Germline

Chr5:13758869

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3202254

rs_551833939

3 SubmittersRCV002852256 RCV004763469

NM_001369.3(DNAH5):c.7610-1G>A

SNV
Germline

Chr5:13809187

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359231099

rs_2546801549

1 SubmittersRCV002865995

NM_001034853.2(RPGR):c.2845G>T (p.Glu949Ter)

SNV
Germline

ChrX:38286154

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412729641

rs_1601919951

1 SubmittersRCV002852326

NM_001369.3(DNAH5):c.1989C>A (p.Tyr663Ter)

SNV
Germline

Chr5:13901315

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359205099

rs_2547091952

1 SubmittersRCV002857193

NM_001369.3(DNAH5):c.8951+1G>A

SNV
Germline

Chr5:13780828

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359212604

rs_207465619

1 SubmittersRCV002857909

NM_001369.3(DNAH5):c.1198-1G>A

SNV
Germline

Chr5:13914643

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359215608

rs_2547129868

1 SubmittersRCV002858081

NM_001034853.2(RPGR):c.2215G>T (p.Glu739Ter)

SNV
Germline

ChrX:38286784

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412731171

rs_1459539276

1 SubmittersRCV002858110

NM_001369.3(DNAH5):c.7625G>A (p.Trp2542Ter)

SNV
Germline

Chr5:13809171

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359231032

rs_2546801418

1 SubmittersRCV002898621

NM_012144.4(DNAI1):c.1134C>G (p.Tyr378Ter)

SNV
Germline

Chr9:34506697

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373256478

rs_2132076769

1 SubmittersRCV002898622

NM_023036.6(DNAI2):c.875G>A (p.Trp292Ter)

SNV
Germline

Chr17:74301056

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA400909031

rs_2509737683

1 SubmittersRCV002876644

NM_001369.3(DNAH5):c.8746C>G (p.Leu2916Val)

SNV
Germline

Chr5:13786253

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202752

rs_373025050

2 SubmittersRCV002913945

NM_001277115.2(DNAH11):c.6693C>G (p.Tyr2231Ter)

SNV
Germline

Chr7:21710562

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366939880

rs_758391967

1 SubmittersRCV002885916

NM_018139.3(DNAAF2):c.1510C>T (p.Gln504Ter)

SNV
Germline

Chr14:49633640

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 10

Criteria Provided
Multiple Submitters
No Conflicts

CA7172895

rs_748693944

2 SubmittersRCV002899698 RCV003598145

NM_023036.6(DNAI2):c.1628C>T (p.Ala543Val)

SNV
Germline

Chr17:74312136

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8745849

rs_770547622

3 SubmittersRCV002899860 RCV004763471

NM_001277115.2(DNAH11):c.2464G>A (p.Glu822Lys)

SNV
Germline

Chr7:21591374

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179346

rs_200388651

2 SubmittersRCV002908165

NM_145045.5(ODAD3):c.1116+1G>A

SNV
Germline

Chr19:11423876

Likely pathogenic

Primary ciliary dyskinesia 30

Criteria Provided
Single Submitter

CA404121380

rs_761992279

1 SubmittersRCV002900240

NM_001369.3(DNAH5):c.10556-1G>A

SNV
Germline

Chr5:13753550

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3202181

rs_751641706

1 SubmittersRCV002913545

NM_001369.3(DNAH5):c.3175-1G>A

SNV
Germline

Chr5:13882816

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359192507

rs_2547030385

1 SubmittersRCV002886626

NM_001369.3(DNAH5):c.13718A>G (p.Asn4573Ser)

SNV
Germline

Chr5:13700645

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA359190618

rs_1375781764

2 SubmittersRCV002907741

NM_015896.4(ZMYND10):c.1A>G (p.Met1Val)

SNV
Germline

Chr3:50345579

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA352946249

rs_1703520578

1 SubmittersRCV002890801

NM_001369.3(DNAH5):c.3918G>A (p.Trp1306Ter)

SNV
Germline

Chr5:13867909

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359229305

rs_2546988372

1 SubmittersRCV002909063

NM_001369.3(DNAH5):c.6989-6T>C

SNV
Germline

Chr5:13814852

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA1073397650

rs_1761231844

2 SubmittersRCV002886224 RCV005034453

NM_023036.6(DNAI2):c.1052C>T (p.Thr351Met)

SNV
Germline

Chr17:74305283

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8745597

rs_548988225

2 SubmittersRCV002913087 RCV004763474

NM_023036.6(DNAI2):c.823A>T (p.Lys275Ter)

SNV
Germline

Chr17:74299816

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA400908729

rs_2509734575

1 SubmittersRCV002937543

NM_001034853.2(RPGR):c.1175C>T (p.Pro392Leu)

SNV
Germline

ChrX:38299026

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10385526

rs_372004762

2 SubmittersRCV002904911

NM_003114.5(SPAG1):c.939+1G>A

SNV
Germline

Chr8:100191497

Likely pathogenic

Primary ciliary dyskinesia 28

Criteria Provided
Multiple Submitters
No Conflicts

CA4827402

rs_761092656

2 SubmittersRCV002922654

NM_001369.3(DNAH5):c.3277G>A (p.Ala1093Thr)

SNV
Germline

Chr5:13876803

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3204325

rs_369902145

2 SubmittersRCV002952431 RCV004765602

NM_001277115.2(DNAH11):c.6941C>G (p.Ala2314Gly)

SNV
Germline

Chr7:21711818

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181046

rs_372541483

2 SubmittersRCV002947937

NM_001277115.2(DNAH11):c.7982T>C (p.Ile2661Thr)

SNV
Germline

Chr7:21741994

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181440

rs_372730542

2 SubmittersRCV002947940

NM_001277115.2(DNAH11):c.10260C>A (p.Tyr3420Ter)

SNV
Germline

Chr7:21807977

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366946293

rs_1789346276

1 SubmittersRCV002927124

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_001277115.2(DNAH11):c.5789A>G (p.Asn1930Ser)

SNV
Germline

Chr7:21687392

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180562

rs_368502112

2 SubmittersRCV002937987

NM_001010892.3(RSPH4A):c.1261G>T (p.Glu421Ter)

SNV
Germline

Chr6:116627968

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3970916

rs_751963395

1 SubmittersRCV002947128

NM_001369.3(DNAH5):c.4372C>T (p.Arg1458Trp)

SNV
Germline

Chr5:13864621

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203990

rs_376641196

2 SubmittersRCV002914673

NM_001369.3(DNAH5):c.9356A>G (p.Lys3119Arg)

SNV
Germline

Chr5:13776456

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA359207901

rs_1251640049

2 SubmittersRCV002904352

NM_001277115.2(DNAH11):c.7450G>A (p.Val2484Ile)

SNV
Germline

Chr7:21735649

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4181234

rs_572118148

3 SubmittersRCV002904664 RCV003435837

NM_001277115.2(DNAH11):c.9218G>A (p.Ser3073Asn)

SNV
Germline

Chr7:21773881

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181902

rs_766622461

2 SubmittersRCV002909336

NM_001369.3(DNAH5):c.1654C>T (p.Arg552Trp)

SNV
Germline

Chr5:13902129

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3204770

rs_535313247

2 SubmittersRCV002932103 RCV003434521

NM_017950.4(CCDC40):c.400G>A (p.Gly134Arg)

SNV
Germline

Chr17:80040118

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8813435

rs_201191082

2 SubmittersRCV002921886

NM_001369.3(DNAH5):c.13229C>G (p.Thr4410Ser)

SNV
Germline

Chr5:13708232

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201416

rs_146334067

2 SubmittersRCV002927751

NM_001277115.2(DNAH11):c.7812G>A (p.Trp2604Ter)

SNV
Germline

Chr7:21739571

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366950759

rs_2535099086

1 SubmittersRCV002953157

NM_001277115.2(DNAH11):c.5815G>A (p.Gly1939Arg)

SNV
Germline

Chr7:21687418

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA155116666

rs_72657334

2 SubmittersRCV002953350 RCV005406541

NM_001277115.2(DNAH11):c.2774A>T (p.His925Leu)

SNV
Germline

Chr7:21599893

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179430

rs_759163666

2 SubmittersRCV002966532

NM_001277115.2(DNAH11):c.6409A>G (p.Met2137Val)

SNV
Germline

Chr7:21704569

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366937333

rs_1562499077

2 SubmittersRCV002952883

NM_001277115.2(DNAH11):c.4009C>T (p.Arg1337Ter)

SNV
Germline

Chr7:21615270

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366951354

rs_1447609804

1 SubmittersRCV002939142

NM_021254.4(CFAP298):c.673C>T (p.Gln225Ter)

SNV
Germline

Chr21:32602361

Pathogenic

Condition: not provided
Primary ciliary dyskinesia 26

Criteria Provided
Multiple Submitters
No Conflicts

CA10002755

rs_750995181

2 SubmittersRCV002962421 RCV003138417

NM_001277115.2(DNAH11):c.5492C>G (p.Ser1831Cys)

SNV
Germline

Chr7:21683815

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180455

rs_751199223

2 SubmittersRCV002971794

NM_001277115.2(DNAH11):c.10328A>G (p.Gln3443Arg)

SNV
Germline

Chr7:21808045

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182319

rs_769152755

2 SubmittersRCV002963266

NM_003114.5(SPAG1):c.2116-1G>T

SNV
Germline

Chr8:100239239

Likely pathogenic

Primary ciliary dyskinesia 28

Criteria Provided
Single Submitter

CA371816947

rs_2489633707

1 SubmittersRCV002928953

NM_001369.3(DNAH5):c.1518C>A (p.Asp506Glu)

SNV
Germline

Chr5:13913761

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204832

rs_757776893

2 SubmittersRCV002966659

NM_001277115.2(DNAH11):c.10372A>G (p.Met3458Val)

SNV
Germline

Chr7:21816506

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4182346

rs_200758776

3 SubmittersRCV002967429 RCV005429399

NM_001369.3(DNAH5):c.5110A>G (p.Thr1704Ala)

SNV
Germline

Chr5:13850656

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203804

rs_766353067

2 SubmittersRCV002943388

NM_001369.3(DNAH5):c.5624C>T (p.Thr1875Met)

SNV
Germline

Chr5:13840991

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203626

rs_141131693

2 SubmittersRCV002948931

NM_001369.3(DNAH5):c.4290T>A (p.Tyr1430Ter)

SNV
Germline

Chr5:13865733

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359224756

rs_1769147841

1 SubmittersRCV003017871

NM_001034853.2(RPGR):c.3133G>T (p.Glu1045Ter)

SNV
Germline

ChrX:38285866

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412728937

rs_2519781357

1 SubmittersRCV002995033

NM_001369.3(DNAH5):c.8764C>T (p.Arg2922Cys)

SNV
Germline

Chr5:13786235

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3202745

rs_369455386

2 SubmittersRCV002963137 RCV004763495

NM_001369.3(DNAH5):c.655G>T (p.Glu219Ter)

SNV
Germline

Chr5:13922112

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359222007

rs_2547155385

1 SubmittersRCV002979257

NM_001369.3(DNAH5):c.4591A>T (p.Ile1531Leu)

SNV
Germline

Chr5:13864402

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203944

rs_781466090

2 SubmittersRCV002993717

NM_001034853.2(RPGR):c.2320G>T (p.Glu774Ter)

SNV
Germline

ChrX:38286679

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412730921

rs_2067186077

1 SubmittersRCV002979622

NM_001277115.2(DNAH11):c.3685G>A (p.Ala1229Thr)

SNV
Germline

Chr7:21606462

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA4179710

rs_150717084

4 SubmittersRCV002999585 RCV003481361 RCV004738653

NM_001369.3(DNAH5):c.3917G>A (p.Trp1306Ter)

SNV
Germline

Chr5:13867910

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359229309

rs_2546988377

1 SubmittersRCV002991523

NM_001034853.2(RPGR):c.824G>A (p.Gly275Asp)

SNV
Germline

ChrX:38304745

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412741592

rs_2519847231

1 SubmittersRCV003008318

NM_001369.3(DNAH5):c.1856A>C (p.Asn619Thr)

SNV
Germline

Chr5:13901448

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204728

rs_764337568

2 SubmittersRCV003010419

NM_001034853.2(RPGR):c.2854G>T (p.Glu952Ter)

SNV
Germline

ChrX:38286145

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412729617

rs_2519786005

1 SubmittersRCV003014147

NM_001034853.2(RPGR):c.248-1G>A

SNV
Germline

ChrX:38321090

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412745484

rs_2519902491

1 SubmittersRCV003023182

NM_001369.3(DNAH5):c.10963G>T (p.Glu3655Ter)

SNV
Germline

Chr5:13752199

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359190011

rs_2546611663

1 SubmittersRCV003016949

NM_001369.3(DNAH5):c.8225-1G>A

SNV
Germline

Chr5:13792218

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359219884

rs_2546737746

1 SubmittersRCV003018829

NM_001034853.2(RPGR):c.2248G>T (p.Glu750Ter)

SNV
Germline

ChrX:38286751

Likely pathogenic

Primary ciliary dyskinesia
RPGR-related retinopathy

Reviewed By Expert Panel

CA327916152

rs_867420711

2 SubmittersRCV003021607 RCV005623495

NM_001034853.2(RPGR):c.550C>T (p.Gln184Ter)

SNV
Germline

ChrX:38317385

Pathogenic

Primary ciliary dyskinesia
X-linked cone-rod dystrophy

Criteria Provided
Single Submitter

CA412744677

rs_2519888989

2 SubmittersRCV003021609 RCV003128088

NM_001369.3(DNAH5):c.2431+1G>A

SNV
Germline

Chr5:13894649

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359200512

rs_2547068431

1 SubmittersRCV003016387

NM_001034853.2(RPGR):c.1414+1G>C

SNV
Germline

ChrX:38297283

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412739326

rs_2519822407

1 SubmittersRCV003014827

NM_001369.3(DNAH5):c.8059A>G (p.Asn2687Asp)

SNV
Germline

Chr5:13793680

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202908

rs_139797525

2 SubmittersRCV003034162

NM_001256715.2(DNAAF3):c.854T>C (p.Phe285Ser)

SNV
Germline

Chr19:55161123

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA407452493

rs_2515521782

1 SubmittersRCV003032021

NM_001369.3(DNAH5):c.12109G>T (p.Glu4037Ter)

SNV
Germline

Chr5:13721170

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359214603

rs_775060022

1 SubmittersRCV003027195

NM_001010892.3(RSPH4A):c.72G>A (p.Trp24Ter)

SNV
Germline

Chr6:116616695

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA365389568

rs_1775508204

1 SubmittersRCV003038693

NM_018139.3(DNAAF2):c.1309G>T (p.Glu437Ter)

SNV
Germline

Chr14:49633841

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA389628073

rs_1185151033

1 SubmittersRCV003038385

NM_001369.3(DNAH5):c.9897+1G>T

SNV
Germline

Chr5:13768959

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359201205

rs_914675446

1 SubmittersRCV003026944

NM_018139.3(DNAAF2):c.1906G>T (p.Glu636Ter)

SNV
Germline

Chr14:49628113

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA389624849

rs_2502756510

1 SubmittersRCV003030098

NM_012472.6(DNAAF11):c.326T>G (p.Leu109Trp)

SNV
Germline

Chr8:132638038

Likely pathogenic

Primary ciliary dyskinesia 19

Criteria Provided
Single Submitter

CA372295680

rs_2538048423

1 SubmittersRCV003014861

NM_001034853.2(RPGR):c.620-2A>G

SNV
Germline

ChrX:38310775

Likely pathogenic

Primary ciliary dyskinesia
X-linked cone-rod dystrophy 1
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
Macular degeneration, X-linked atrophic
Retinitis pigmentosa 3

Criteria Provided
Multiple Submitters
No Conflicts

CA10385611

rs_138313492

2 SubmittersRCV003032124 RCV005050696

NM_001034853.2(RPGR):c.823G>T (p.Gly275Cys)

SNV
Germline

ChrX:38304746

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412741594

rs_62642057

1 SubmittersRCV003030558

NM_012144.4(DNAI1):c.48+1G>T

SNV
Germline

Chr9:34459054

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373247934

rs_2132034522

1 SubmittersRCV003043816

NM_001206927.2(DNAH8):c.4188+2T>A

SNV
Germline

Chr6:38828290

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA363998156

rs_2532682220

1 SubmittersRCV003047773

NM_001369.3(DNAH5):c.8755G>T (p.Glu2919Ter)

SNV
Germline

Chr5:13786244

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359215204

rs_796964258

1 SubmittersRCV003030414

NM_001369.3(DNAH5):c.7408-1G>A

SNV
Germline

Chr5:13810261

Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA359232565

rs_2546807137

2 SubmittersRCV003030436 RCV005034593

NM_023036.6(DNAI2):c.1173G>A (p.Trp391Ter)

SNV
Germline

Chr17:74305404

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 9

Criteria Provided
Multiple Submitters
No Conflicts

CA400910378

rs_1261918364

2 SubmittersRCV003054727 RCV005019576

NM_001369.3(DNAH5):c.9373+1G>T

SNV
Germline

Chr5:13776438

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359207658

rs_1754098584

1 SubmittersRCV003054922

NM_001034853.2(RPGR):c.2303G>A (p.Arg768His)

SNV
Germline

ChrX:38286696

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA412730963

rs_1384034145

2 SubmittersRCV003027732 RCV003435855

NM_001034853.2(RPGR):c.3220G>T (p.Glu1074Ter)

SNV
Germline

ChrX:38285779

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412728727

rs_1259306034

1 SubmittersRCV003032879

NM_001034853.2(RPGR):c.2167A>T (p.Arg723Ter)

SNV
Germline

ChrX:38286832

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412731288

rs_2519793247

1 SubmittersRCV003039573

NM_001034853.2(RPGR):c.2485G>T (p.Glu829Ter)

SNV
Germline

ChrX:38286514

Pathogenic

Primary ciliary dyskinesia
Retinal dystrophy

Criteria Provided
Single Submitter

CA412730530

rs_2519790535

2 SubmittersRCV003052219 RCV004817181

NM_001034853.2(RPGR):c.305C>G (p.Ser102Ter)

SNV
Germline

ChrX:38321032

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412745359

rs_2519902120

1 SubmittersRCV003041136

NM_001034853.2(RPGR):c.778+1G>A

SNV
Germline

ChrX:38310614

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Retinitis pigmentosa 3

Criteria Provided
Multiple Submitters
No Conflicts

CA412742451

rs_2519865384

2 SubmittersRCV003050167 RCV005250269

NM_001277115.2(DNAH11):c.8752C>G (p.Leu2918Val)

SNV
Germline

Chr7:21749756

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366955851

rs_1216328081

2 SubmittersRCV003534961

NM_003611.3(OFD1):c.2647C>T (p.Arg883Trp)

SNV
Germline

ChrX:13767174

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Joubert syndrome
Orofaciodigital syndrome I
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Retinitis pigmentosa 23
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA10352059

rs_149790559

3 SubmittersRCV004081054 RCV003777590 RCV005045378

NM_001277115.2(DNAH11):c.2693A>G (p.Asn898Ser)

SNV
Germline

Chr7:21599812

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179408

rs_375459428

2 SubmittersRCV003534962

NM_001277115.2(DNAH11):c.4785T>G (p.Asn1595Lys)

SNV
Germline

Chr7:21637670

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366934215

rs_770148208

2 SubmittersRCV003649414

NM_001277115.2(DNAH11):c.3566T>C (p.Leu1189Pro)

SNV
Germline

Chr7:21601536

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179671

rs_372526334

2 SubmittersRCV003649415

NM_003611.3(OFD1):c.935+1G>T

SNV
Germline

ChrX:13749534

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412339148

rs_2518857883

1 SubmittersRCV004093809

NM_001277115.2(DNAH11):c.10005G>C (p.Glu3335Asp)

SNV
Germline

Chr7:21789321

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182188

rs_771208403

2 SubmittersRCV003534964

NM_001277115.2(DNAH11):c.7115C>G (p.Pro2372Arg)

SNV
Germline

Chr7:21717906

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366943496

rs_1428341575

2 SubmittersRCV003777714

NM_001277115.2(DNAH11):c.4786C>T (p.Leu1596Phe)

SNV
Germline

Chr7:21637671

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366934218

rs_1433172197

2 SubmittersRCV003777742

NM_001277115.2(DNAH11):c.4843G>A (p.Ala1615Thr)

SNV
Germline

Chr7:21638964

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA155069782

rs_1016473135

3 SubmittersRCV003777740 RCV005242326

NM_001277115.2(DNAH11):c.3353T>C (p.Val1118Ala)

SNV
Germline

Chr7:21601107

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179600

rs_753277227

2 SubmittersRCV003777746

NM_001277115.2(DNAH11):c.3706G>C (p.Val1236Leu)

SNV
Germline

Chr7:21606483

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179714

rs_777319170

2 SubmittersRCV003777747

NM_001277115.2(DNAH11):c.10037G>A (p.Arg3346Gln)

SNV
Germline

Chr7:21801147

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182213

rs_761713335

2 SubmittersRCV003534966

NM_001277115.2(DNAH11):c.3557C>T (p.Thr1186Ile)

SNV
Germline

Chr7:21601527

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA155088301

rs_757753783

2 SubmittersRCV003534967

NM_001277115.2(DNAH11):c.529C>G (p.His177Asp)

SNV
Germline

Chr7:21558835

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178705

rs_752016007

2 SubmittersRCV003534968

NM_001364171.2(ODAD1):c.1118A>G (p.His373Arg)

SNV
Germline

Chr19:48302816

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA9548813

rs_780566776

2 SubmittersRCV004142005

NM_001277115.2(DNAH11):c.2578G>T (p.Ala860Ser)

SNV
Germline

Chr7:21591488

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366942997

rs_1171160143

2 SubmittersRCV003534970

NM_001277115.2(DNAH11):c.5059G>A (p.Val1687Ile)

SNV
Germline

Chr7:21655946

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366938257

rs_1236771486

2 SubmittersRCV003534972

NM_001277115.2(DNAH11):c.1949C>T (p.Ser650Leu)

SNV
Germline

Chr7:21588612

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179160

rs_755002843

2 SubmittersRCV003647946

NM_001206927.2(DNAH8):c.1648G>A (p.Ala550Thr)

SNV
Germline

Chr6:38770443

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA3788288

rs_748375168

2 SubmittersRCV003649418 RCV004180436

NM_001277115.2(DNAH11):c.8794T>G (p.Ser2932Ala)

SNV
Germline

Chr7:21749798

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181719

rs_368664931

2 SubmittersRCV003534977

NM_001277115.2(DNAH11):c.4864C>T (p.Arg1622Cys)

SNV
Germline

Chr7:21638985

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180201

rs_566705895

2 SubmittersRCV003534978

NM_001277115.2(DNAH11):c.10781C>T (p.Pro3594Leu)

SNV
Germline

Chr7:21842633

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182486

rs_770336845

2 SubmittersRCV003534979

NM_000328.3(RPGR):c.2303C>T (p.Pro768Leu)

SNV
Germline

ChrX:38269771

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10385042

rs_757080712

2 SubmittersRCV003534981

NM_001277115.2(DNAH11):c.1997C>A (p.Ala666Asp)

SNV
Germline

Chr7:21589231

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA155075521

rs_368059592

2 SubmittersRCV003120243 RCV003649422

NM_001034853.2(RPGR):c.248-10A>G

SNV
Germline

ChrX:38321099

Pathogenic

X-linked cone-rod dystrophy
Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA2580100833

rs_2519902575

2 SubmittersRCV003128112 RCV005099270

NM_001034853.2(RPGR):c.1585A>G (p.Ile529Val)

SNV
Germline

ChrX:38288029

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA10385438

rs_764009509

4 SubmittersRCV003128332 RCV003647950 RCV005435080

NM_001277115.2(DNAH11):c.3601G>T (p.Glu1201Ter)

SNV
Germline

Chr7:21601571

Likely pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

CA366947336

rs_2534636903

1 SubmittersRCV003140619

NM_001369.3(DNAH5):c.10555+1G>T

SNV
Germline

Chr5:13754202

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359193078

rs_2546618242

1 SubmittersRCV003144763

NM_003611.3(OFD1):c.2778G>T (p.Leu926=)

SNV
Germline

ChrX:13768074

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA515457490

rs_2518998297

3 SubmittersRCV003133109 RCV004636716 RCV003778738

NM_001277115.2(DNAH11):c.11839+1G>A

SNV
Germline

Chr7:21868008

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA366962632

rs_1783348812

2 SubmittersRCV003136685 RCV004798976

NM_001277115.2(DNAH11):c.4922C>G (p.Ser1641Ter)

SNV
Germline

Chr7:21639043

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA366934775

rs_2128460324

2 SubmittersRCV003136689

NM_145045.5(ODAD3):c.556A>G (p.Ser186Gly)

SNV
Germline

Chr19:11426929

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA404125058

rs_528337895

2 SubmittersRCV003144686 RCV004654188

NM_001034853.2(RPGR):c.1640A>T (p.Tyr547Phe)

SNV
Germline

ChrX:38287974

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10385431

rs_750857784

2 SubmittersRCV003135794 RCV003778779

NM_001277115.2(DNAH11):c.9791C>T (p.Pro3264Leu)

SNV
Germline

Chr7:21787450

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA155090149

rs_374439635

2 SubmittersRCV003146203 RCV005099400

NM_001277115.2(DNAH11):c.13054A>T (p.Asn4352Tyr)

SNV
Germline

Chr7:21899340

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4183278

rs_144401534

3 SubmittersRCV003146206 RCV003164860

NM_001277115.2(DNAH11):c.5690C>T (p.Thr1897Ile)

SNV
Germline

Chr7:21687167

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180516

rs_376904276

3 SubmittersRCV003146210 RCV003534984

NM_001277115.2(DNAH11):c.10783G>A (p.Glu3595Lys)

SNV
Germline

Chr7:21842635

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182488

rs_762731249

3 SubmittersRCV003159247 RCV003146211 RCV003534985

NM_001277115.2(DNAH11):c.11379G>T (p.Leu3793Phe)

SNV
Germline

Chr7:21864540

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366961563

rs_1199865481

2 SubmittersRCV003146212 RCV003778867

NM_001277115.2(DNAH11):c.10009A>G (p.Ile3337Val)

SNV
Germline

Chr7:21789325

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182190

rs_145645790

2 SubmittersRCV003146213 RCV003649431

NM_001270974.2(HYDIN):c.12444-1G>A

SNV
Germline

Chr16:70850656

Likely pathogenic

Primary ciliary dyskinesia 5

Criteria Provided
Multiple Submitters
No Conflicts

CA396601109

rs_1396390185

2 SubmittersRCV003149166

NM_001369.3(DNAH5):c.1731-1G>C

SNV
Germline

Chr5:13901574

Pathogenic

Condition: not provided
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA359207556

rs_2547093291

2 SubmittersRCV003149329 RCV004763606

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_001277115.2(DNAH11):c.956A>G (p.Lys319Arg)

SNV
Germline

Chr7:21561144

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4178830

rs_759321222

3 SubmittersRCV003172707 RCV004775360

NM_001277115.2(DNAH11):c.2111A>T (p.Gln704Leu)

SNV
Germline

Chr7:21589345

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179224

rs_377725666

2 SubmittersRCV003172710

NM_001277115.2(DNAH11):c.4066A>G (p.Met1356Val)

SNV
Germline

Chr7:21616263

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366951497

rs_1388797554

2 SubmittersRCV003172712

NM_001277115.2(DNAH11):c.7240T>G (p.Phe2414Val)

SNV
Germline

Chr7:21720830

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366944185

rs_1415224732

2 SubmittersRCV003176499

NM_001277115.2(DNAH11):c.6185A>G (p.His2062Arg)

SNV
Germline

Chr7:21702714

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180723

rs_777405662

2 SubmittersRCV003534989

NM_001277115.2(DNAH11):c.13276G>A (p.Ala4426Thr)

SNV
Germline

Chr7:21900093

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4183389

rs_771449722

2 SubmittersRCV003534991

NM_001277115.2(DNAH11):c.12890G>A (p.Arg4297Gln)

SNV
Germline

Chr7:21894762

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4183208

rs_780660397

2 SubmittersRCV003779712

NM_001369.3(DNAH5):c.8750A>C (p.Tyr2917Ser)

SNV
Germline

Chr5:13786249

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA113954421

rs_768141871

2 SubmittersRCV003779682

NM_001369.3(DNAH5):c.2732A>G (p.Asn911Ser)

SNV
Germline

Chr5:13885975

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204514

rs_142386498

2 SubmittersRCV003534993

NM_001369.3(DNAH5):c.13491+8C>A

SNV
Germline

Chr5:13701276

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA2578269570

rs_1742074967

2 SubmittersRCV003214130 RCV003649437

NM_001277115.2(DNAH11):c.3425+2T>A

SNV
Germline

Chr7:21601181

Likely pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

CA366946715

rs_2534634175

1 SubmittersRCV003223359

NM_001277115.2(DNAH11):c.3040C>T (p.Gln1014Ter)

SNV
Germline

Chr7:21600715

Pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

CA366944975

rs_375314297

1 SubmittersRCV003224945

NM_001369.3(DNAH5):c.13338+5G>C

SNV
Germline

Chr5:13708118

Pathogenic

Primary ciliary dyskinesia 3

No Assertion Criteria Provided

CA2580613513

rs_374718437

1 SubmittersRCV003228697

NM_021147.5(CCNO):c.548T>A (p.Leu183Ter)

SNV
Germline

Chr5:55232380

Likely pathogenic

Primary ciliary dyskinesia 29

Criteria Provided
Single Submitter

CA359722684

rs_2478547859

1 SubmittersRCV003229533

NM_017950.4(CCDC40):c.2619+45G>A

SNV
Unknown

Chr17:80087821

Pathogenic

Primary ciliary dyskinesia 15

Criteria Provided
Single Submitter

CA628018540

rs_1225389709

1 SubmittersRCV003233347

NM_017950.4(CCDC40):c.967C>T (p.Gln323Ter)

SNV
Germline

Chr17:80050091

Pathogenic

Primary ciliary dyskinesia 3

No Assertion Criteria Provided

CA401355071

rs_2510290432

1 SubmittersRCV003234812

NM_001039396.2(MPEG1):c.973C>T (p.Pro325Ser)

SNV
Germline

Chr11:59211893

Pathogenic

Primary ciliary dyskinesia 3

No Assertion Criteria Provided

CA380776921

rs_2496452431

1 SubmittersRCV003234813

NM_139285.4(GAS2L2):c.208A>G (p.Asn70Asp)

SNV
Germline

Chr17:35752643

Pathogenic

Primary ciliary dyskinesia 3

No Assertion Criteria Provided

CA399141382

rs_2509920625

1 SubmittersRCV003234814

NM_001190787.3(MCIDAS):c.446T>C (p.Ile149Thr)

SNV
Germline

Chr5:55222336

Pathogenic

Primary ciliary dyskinesia 3

No Assertion Criteria Provided

CA359732744

rs_2478513916

1 SubmittersRCV003234815

NM_001369.3(DNAH5):c.12493T>C (p.Tyr4165His)

SNV
Germline

Chr5:13718888

Pathogenic

Primary ciliary dyskinesia 3

No Assertion Criteria Provided

CA359208800

rs_1744666930

1 SubmittersRCV003234816

NM_003998.4(NFKB1):c.263G>T (p.Cys88Phe)

SNV
Germline

Chr4:102566991

Pathogenic

Primary ciliary dyskinesia 3

No Assertion Criteria Provided

CA357958706

rs_1387606271

1 SubmittersRCV003234817

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_178452.6(DNAAF1):c.2165C>T (p.Pro722Leu)

SNV
Germline

Chr16:84177828

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA8203190

rs_775816960

2 SubmittersRCV003534996

NM_001277115.2(DNAH11):c.817T>C (p.Ser273Pro)

SNV
Germline

Chr7:21559727

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178787

rs_368459116

2 SubmittersRCV003649441

NM_001277115.2(DNAH11):c.10090C>T (p.Arg3364Trp)

SNV
Germline

Chr7:21801200

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4182227

rs_377042231

3 SubmittersRCV003534997 RCV004801335

NM_001206927.2(DNAH8):c.3103A>G (p.Ile1035Val)

SNV
Germline

Chr6:38805549

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
not specified

Criteria Provided
Conflicting Classifications

CA363995488

rs_1480696575

2 SubmittersRCV005102570 RCV004302450

NM_001277115.2(DNAH11):c.1543T>A (p.Cys515Ser)

SNV
Germline

Chr7:21571923

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179013

rs_368512197

2 SubmittersRCV003779953

NM_001277115.2(DNAH11):c.3491G>A (p.Gly1164Asp)

SNV
Germline

Chr7:21601461

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179654

rs_781520837

2 SubmittersRCV003534999

NM_001277115.2(DNAH11):c.5674G>A (p.Ala1892Thr)

SNV
Germline

Chr7:21687151

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366949252

rs_1339960032

2 SubmittersRCV003535000

NM_001277115.2(DNAH11):c.11276T>A (p.Ile3759Asn)

SNV
Germline

Chr7:21861926

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182690

rs_746315507

2 SubmittersRCV003296604

NM_001277115.2(DNAH11):c.11257A>G (p.Met3753Val)

SNV
Germline

Chr7:21861907

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA155135626

rs_1026816105

2 SubmittersRCV004326412

NM_001277115.2(DNAH11):c.12647A>T (p.Glu4216Val)

SNV
Germline

Chr7:21892564

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA155103491

rs_755880806

2 SubmittersRCV003649445

NM_001277115.2(DNAH11):c.152G>C (p.Arg51Pro)

SNV
Germline

Chr7:21543397

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178622

rs_753634502

2 SubmittersRCV003297699

NM_001277115.2(DNAH11):c.4095+2C>T

SNV
Germline

Chr7:21616294

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4179878

rs_532007878

3 SubmittersRCV003312676 RCV005254758

NM_023036.6(DNAI2):c.987+1G>A

SNV
Germline

Chr17:74301169

Likely pathogenic

Primary ciliary dyskinesia 9

Criteria Provided
Single Submitter

CA8745558

rs_766662586

1 SubmittersRCV003324233

NM_001277115.2(DNAH11):c.880C>T (p.Gln294Ter)

SNV
Germline

Chr7:21559790

Likely pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

CA366933104

rs_2534464878

1 SubmittersRCV003329141

NM_001270974.2(HYDIN):c.13402-2A>G

SNV
Germline

Chr16:70834166

Likely pathogenic

Primary ciliary dyskinesia 5

Criteria Provided
Single Submitter

CA396595193

rs_1270003368

1 SubmittersRCV003340724

NM_001277115.2(DNAH11):c.9483+2T>A

SNV
Germline

Chr7:21779106

Likely pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

CA366937866

rs_2535235100

1 SubmittersRCV003340952

NM_001277115.2(DNAH11):c.12748A>T (p.Lys4250Ter)

SNV
Germline

Chr7:21892665

Likely pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

CA4183165

rs_770946058

1 SubmittersRCV003340953

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_001277115.2(DNAH11):c.4777A>G (p.Arg1593Gly)

SNV
Germline

Chr7:21637662

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180157

rs_781652233

2 SubmittersRCV003361066

NM_178452.6(DNAAF1):c.13C>G (p.Pro5Ala)

SNV
Germline

Chr16:84145453

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA285487205

rs_1024875120

2 SubmittersRCV003649449

NM_001277115.2(DNAH11):c.5194C>G (p.Leu1732Val)

SNV
Germline

Chr7:21658897

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180332

rs_745519889

2 SubmittersRCV003649450

NM_001277115.2(DNAH11):c.5395A>C (p.Ile1799Leu)

SNV
Germline

Chr7:21681612

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366946847

rs_1366183602

2 SubmittersRCV003535016

NM_001277115.2(DNAH11):c.4760T>C (p.Val1587Ala)

SNV
Germline

Chr7:21637645

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180153

rs_758562003

2 SubmittersRCV003778058

NM_001277115.2(DNAH11):c.13108C>A (p.Leu4370Ile)

SNV
Germline

Chr7:21899394

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4183297

rs_746738432

2 SubmittersRCV003535018

NM_015896.4(ZMYND10):c.1248-1G>T

SNV
Germline

Chr3:50341486

Likely pathogenic

Primary ciliary dyskinesia 22

Criteria Provided
Single Submitter

CA2416926

rs_145320643

1 SubmittersRCV003387653

NM_001277115.2(DNAH11):c.4044G>A (p.Trp1348Ter)

SNV
Germline

Chr7:21616241

Pathogenic/Likely pathogenic

DNAH11-related disorder
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA366951446

rs_908792916

2 SubmittersRCV004528650 RCV003649454

NM_001277115.2(DNAH11):c.175G>A (p.Val59Met)

SNV
Germline

Chr7:21543420

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA366931298

rs_1284215510

2 SubmittersRCV003535021 RCV004529311

NM_001369.3(DNAH5):c.57+1G>A

SNV
Germline

Chr5:13944381

Likely pathogenic

Primary ciliary dyskinesia 3
DNAH5-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA113933363

rs_376118760

3 SubmittersRCV003992768 RCV003419133

NM_001369.3(DNAH5):c.2225G>A (p.Arg742Gln)

SNV
Germline

Chr5:13900240

Conflicting classifications of pathogenicity

DNAH5-related disorder
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204640

rs_560939419

2 SubmittersRCV003420710 RCV003647985

NM_178452.6(DNAAF1):c.985C>T (p.Gln329Ter)

SNV
Germline

Chr16:84165904

Pathogenic/Likely pathogenic

DNAAF1-related disorder
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA396946596

rs_2507432053

2 SubmittersRCV003400058 RCV003778260

NM_001277115.2(DNAH11):c.7891T>A (p.Phe2631Ile)

SNV
Germline

Chr7:21739650

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA4181390

rs_746587907

2 SubmittersRCV003535022 RCV004531746

NM_001256715.2(DNAAF3):c.76C>T (p.Gln26Ter)

SNV
Germline

Chr19:55166338

Pathogenic

Primary ciliary dyskinesia 2

Criteria Provided
Single Submitter

CA407463012

rs_2515547820

1 SubmittersRCV003445425

NM_001034853.2(RPGR):c.311-1G>A

SNV
Germline

ChrX:38318988

Likely pathogenic

X-linked cone-rod dystrophy 1
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA412745338

rs_1156891581

2 SubmittersRCV003466259 RCV003649461

NM_001270974.2(HYDIN):c.12076G>A (p.Ala4026Thr)

SNV
Germline

Chr16:70860121

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 5
not specified

Criteria Provided
Conflicting Classifications

CA283511573

rs_11075798

2 SubmittersRCV003448788 RCV005435193

NM_031924.8(RSPH3):c.280C>T (p.Gln94Ter)

SNV
Germline

Chr6:158986346

Likely pathogenic

Primary ciliary dyskinesia 32

Criteria Provided
Single Submitter

CA366282629

rs_1778238126

1 SubmittersRCV003448929

NM_001270974.2(HYDIN):c.10949-2A>G

SNV
Germline

Chr16:70872181

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA396611932

rs_2143654921

1 SubmittersRCV003448940

NM_001270974.2(HYDIN):c.1797C>G (p.Tyr599Ter)

SNV
Germline

Chr16:71069444

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA8151281

rs_760517494

1 SubmittersRCV003448943

NM_001369.3(DNAH5):c.2052+3G>T

SNV
Germline

Chr5:13901249

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA2695198581

rs_2547091579

1 SubmittersRCV003448945

NM_001369.3(DNAH5):c.3599-2A>G

SNV
Germline

Chr5:13871004

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359232497

rs_1187251909

1 SubmittersRCV003448946

NM_001277115.2(DNAH11):c.6547-963G>A

SNV
Germline

Chr7:21706736

Pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

CA155078618

rs_764374746

2 SubmittersRCV003992115

NM_018139.3(DNAAF2):c.1807G>T (p.Glu603Ter)

SNV
Unknown

Chr14:49633343

Likely pathogenic

Primary ciliary dyskinesia 10

Criteria Provided
Single Submitter

CA389625993

rs_2502765926

1 SubmittersRCV003484550

NM_145045.5(ODAD3):c.1116+1G>T

SNV
Germline

Chr19:11423876

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 30

Criteria Provided
Conflicting Classifications

CA404121378

rs_761992279

2 SubmittersRCV003492947

NM_001277115.2(DNAH11):c.5506C>T (p.Arg1836Ter)

SNV
Germline

Chr7:21683829

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA155113115

rs_370080269

3 SubmittersRCV003486074 RCV003535030

NM_031421.5(ODAD4):c.1630G>T (p.Asp544Tyr)

SNV
Germline

Chr17:41965094

Likely pathogenic

Primary ciliary dyskinesia 35

Criteria Provided
Single Submitter

CA399538756

rs_782254368

1 SubmittersRCV003493248

NM_001369.3(DNAH5):c.10196T>C (p.Val3399Ala)

SNV
Germline

Chr5:13762807

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 3
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA359198282

rs_1398835710

2 SubmittersRCV003486379 RCV003779263

NM_145045.5(ODAD3):c.708T>G (p.Tyr236Ter)

SNV
Germline

Chr19:11426689

Pathogenic

Primary ciliary dyskinesia 30

Criteria Provided
Single Submitter

CA404124093

rs_2512482280

1 SubmittersRCV003586486

NM_001034853.2(RPGR):c.718G>T (p.Glu240Ter)

SNV
Germline

ChrX:38310675

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412742713

rs_2519865852

1 SubmittersRCV003536337

NM_001369.3(DNAH5):c.12705+1G>A

SNV
Germline

Chr5:13717314

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359205872

rs_779993876

1 SubmittersRCV003535048

NM_001369.3(DNAH5):c.5399T>A (p.Leu1800Ter)

SNV
Germline

Chr5:13841777

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359211486

rs_1580524265

1 SubmittersRCV003536063

NM_001369.3(DNAH5):c.1717A>T (p.Lys573Ter)

SNV
Germline

Chr5:13902066

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359207898

rs_776722304

1 SubmittersRCV003536111

NM_001206927.2(DNAH8):c.5005G>T (p.Glu1669Ter)

SNV
Germline

Chr6:38845733

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA364007217

rs_1438128043

1 SubmittersRCV003536113

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_001277115.2(DNAH11):c.6468+2T>G

SNV
Germline

Chr7:21704630

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366937547

rs_1435811495

1 SubmittersRCV003536217

NM_001369.3(DNAH5):c.10420-1G>A

SNV
Germline

Chr5:13754339

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359194355

rs_2546618925

1 SubmittersRCV003536218

NM_001369.3(DNAH5):c.6580-1G>T

SNV
Germline

Chr5:13823371

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359196138

rs_2546854025

1 SubmittersRCV003536222

NM_001277115.2(DNAH11):c.7258C>A (p.Gln2420Lys)

SNV
Germline

Chr7:21720848

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366944297

rs_1207409225

2 SubmittersRCV003536366

NM_012144.4(DNAI1):c.1205G>T (p.Gly402Val)

SNV
Germline

Chr9:34506768

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373257013

rs_138954776

1 SubmittersRCV003536055

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_001277115.2(DNAH11):c.9181C>T (p.Gln3061Ter)

SNV
Germline

Chr7:21773844

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366936503

rs_2535217792

1 SubmittersRCV003536101

NM_001369.3(DNAH5):c.6165T>A (p.Cys2055Ter)

SNV
Germline

Chr5:13830110

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359201136

rs_2546878696

1 SubmittersRCV003536158

NM_001277115.2(DNAH11):c.11496+1G>T

SNV
Germline

Chr7:21864658

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366961813

rs_2535501445

1 SubmittersRCV003536253

NM_001369.3(DNAH5):c.1924C>T (p.Gln642Ter)

SNV
Germline

Chr5:13901380

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359205436

rs_2547092303

1 SubmittersRCV003536319

NM_015896.4(ZMYND10):c.76G>T (p.Glu26Ter)

SNV
Germline

Chr3:50345504

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA352945969

rs_1335327546

1 SubmittersRCV003535071

NM_001369.3(DNAH5):c.2431+1G>T

SNV
Germline

Chr5:13894649

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359200510

rs_2547068431

1 SubmittersRCV003536040

NM_001369.3(DNAH5):c.8010+2T>C

SNV
Germline

Chr5:13793934

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359221739

rs_2546745451

1 SubmittersRCV003536087

NM_001369.3(DNAH5):c.13602T>A (p.Tyr4534Ter)

SNV
Germline

Chr5:13700761

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359191524

rs_1579806394

1 SubmittersRCV003536244

NM_001277115.2(DNAH11):c.4012-1G>A

SNV
Germline

Chr7:21616208

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366951366

rs_2534693553

1 SubmittersRCV003536246

NM_001369.3(DNAH5):c.11923A>T (p.Lys3975Ter)

SNV
Germline

Chr5:13727617

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359218320

rs_2546542097

1 SubmittersRCV003536445

NM_023036.6(DNAI2):c.345+2T>C

SNV
Germline

Chr17:74285203

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA400903931

rs_2509693120

1 SubmittersRCV003536510

NM_001277115.2(DNAH11):c.5622-1G>A

SNV
Germline

Chr7:21687098

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366948917

rs_2128473916

1 SubmittersRCV003537530

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_018076.5(ODAD2):c.1424C>G (p.Ser475Ter)

SNV
Germline

Chr10:27944925

Pathogenic

Primary ciliary dyskinesia 23

Criteria Provided
Single Submitter

CA5453536

rs_759966765

1 SubmittersRCV003582489

NM_023036.6(DNAI2):c.154C>T (p.Gln52Ter)

SNV
Germline

Chr17:74281971

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA400912377

rs_2509682200

1 SubmittersRCV003537695

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_001369.3(DNAH5):c.10399C>T (p.Gln3467Ter)

SNV
Germline

Chr5:13758866

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3202253

rs_772481807

1 SubmittersRCV003537826

NM_017802.4(DNAAF5):c.1471-1G>A

SNV
Germline

Chr7:761752

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA4110760

rs_767460655

1 SubmittersRCV003537850

NM_001277115.2(DNAH11):c.589A>T (p.Lys197Ter)

SNV
Germline

Chr7:21558895

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366932451

rs_2534460628

1 SubmittersRCV003536421

NM_001277115.2(DNAH11):c.5131C>T (p.Gln1711Ter)

SNV
Germline

Chr7:21658834

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366939629

rs_2534838847

1 SubmittersRCV003536426

NM_001277115.2(DNAH11):c.3279T>G (p.Tyr1093Ter)

SNV
Germline

Chr7:21601033

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366945837

rs_753829354

1 SubmittersRCV003536430

NM_001277115.2(DNAH11):c.5924+1G>A

SNV
Germline

Chr7:21687528

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366949886

rs_886039340

1 SubmittersRCV003536484

NM_023036.6(DNAI2):c.546C>G (p.Tyr182Ter)

SNV
Germline

Chr17:74289672

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA400906123

rs_770946088

1 SubmittersRCV003536531

NM_001277115.2(DNAH11):c.8932C>T (p.Gln2978Ter)

SNV
Germline

Chr7:21750356

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA4181782

rs_772228900

3 SubmittersRCV003537668 RCV005240797

NM_001277115.2(DNAH11):c.8221G>T (p.Glu2741Ter)

SNV
Germline

Chr7:21744504

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366953681

rs_2535116914

1 SubmittersRCV003537671

NM_001369.3(DNAH5):c.5659G>T (p.Glu1887Ter)

SNV
Germline

Chr5:13840956

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359209038

rs_1179042084

1 SubmittersRCV003537675

NM_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_001369.3(DNAH5):c.11884-1G>C

SNV
Germline

Chr5:13727657

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359218421

rs_2546542315

1 SubmittersRCV003536398

NM_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_001206927.2(DNAH8):c.7396G>T (p.Glu2466Ter)

SNV
Germline

Chr6:38873064

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA364027950

rs_1430752700

1 SubmittersRCV003537554

NM_001256715.2(DNAAF3):c.632G>A (p.Trp211Ter)

SNV
Germline

Chr19:55161674

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA407454629

rs_2085836426

1 SubmittersRCV003537600

NM_001206927.2(DNAH8):c.13214+1G>A

SNV
Germline

Chr6:38990173

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3791595

rs_748507521

1 SubmittersRCV003537647

NM_001369.3(DNAH5):c.12264G>T (p.Gln4088His)

SNV
Germline

Chr5:13721015

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3201701

rs_199672743

2 SubmittersRCV003537655

NM_001277115.2(DNAH11):c.4233C>G (p.His1411Gln)

SNV
Germline

Chr7:21617756

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179941

rs_773424828

2 SubmittersRCV003537657

NM_001277115.2(DNAH11):c.562A>G (p.Met188Val)

SNV
Germline

Chr7:21558868

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178711

rs_748728894

2 SubmittersRCV003537662

NM_001277115.2(DNAH11):c.9064G>A (p.Val3022Ile)

SNV
Germline

Chr7:21765551

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA4181835

rs_757486099

3 SubmittersRCV003537729 RCV004738751

NM_001277115.2(DNAH11):c.6042-1G>T

SNV
Germline

Chr7:21698074

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366934670

rs_1364430470

1 SubmittersRCV003537785

NM_001277115.2(DNAH11):c.1366C>G (p.Gln456Glu)

SNV
Germline

Chr7:21570240

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366935076

rs_1345508201

2 SubmittersRCV003537789

NM_001277115.2(DNAH11):c.367A>G (p.Asn123Asp)

SNV
Germline

Chr7:21545021

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178667

rs_750093486

2 SubmittersRCV003538832

NM_001206927.2(DNAH8):c.5380C>T (p.Arg1794Ter)

SNV
Germline

Chr6:38851588

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3789361

rs_781224411

1 SubmittersRCV003538933

NM_001277115.2(DNAH11):c.1138A>C (p.Thr380Pro)

SNV
Germline

Chr7:21564341

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178910

rs_755525098

2 SubmittersRCV003538938

NM_001277115.2(DNAH11):c.4352C>T (p.Ala1451Val)

SNV
Germline

Chr7:21619197

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180001

rs_775598568

2 SubmittersRCV003539035

NM_001369.3(DNAH5):c.1417T>C (p.Phe473Leu)

SNV
Germline

Chr5:13913862

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA359214065

rs_1162532498

2 SubmittersRCV003539036

NM_001277115.2(DNAH11):c.2441A>G (p.Glu814Gly)

SNV
Germline

Chr7:21591351

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179342

rs_776262883

2 SubmittersRCV003539118

NM_001206927.2(DNAH8):c.11877T>G (p.Tyr3959Ter)

SNV
Germline

Chr6:38938858

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3791209

rs_754334951

1 SubmittersRCV003539123

NM_001277115.2(DNAH11):c.12255C>G (p.Cys4085Trp)

SNV
Germline

Chr7:21880761

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4183018

rs_374263671

2 SubmittersRCV003539124 RCV005242408

NM_001277115.2(DNAH11):c.4159G>A (p.Val1387Ile)

SNV
Germline

Chr7:21617682

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179925

rs_140876382

2 SubmittersRCV003539309

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_001277115.2(DNAH11):c.820C>T (p.Pro274Ser)

SNV
Germline

Chr7:21559730

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366932958

rs_1443828697

2 SubmittersRCV003537855

NM_001277115.2(DNAH11):c.5329-6T>G

SNV
Germline

Chr7:21681540

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4180378

rs_371867661

2 SubmittersRCV003537857 RCV005047657

NM_001369.3(DNAH5):c.9721-1G>C

SNV
Germline

Chr5:13769137

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359202543

rs_2546656725

1 SubmittersRCV003537919

NM_001277115.2(DNAH11):c.4123C>T (p.Arg1375Cys)

SNV
Germline

Chr7:21617646

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179908

rs_775354685

2 SubmittersRCV003537923

NM_001277115.2(DNAH11):c.11425C>T (p.Arg3809Ter)

SNV
Germline

Chr7:21864586

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA4182744

rs_765632800

1 SubmittersRCV003537996

NM_001277115.2(DNAH11):c.9542T>A (p.Leu3181His)

SNV
Germline

Chr7:21784485

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182015

rs_747056886

2 SubmittersRCV003538911

NM_001369.3(DNAH5):c.325A>T (p.Lys109Ter)

SNV
Germline

Chr5:13923393

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359224062

rs_2547160581

1 SubmittersRCV003539000

NM_001277115.2(DNAH11):c.1187T>A (p.Ile396Asn)

SNV
Germline

Chr7:21564390

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178921

rs_763405163

2 SubmittersRCV003539008

NM_001277115.2(DNAH11):c.7331C>T (p.Pro2444Leu)

SNV
Germline

Chr7:21725875

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181193

rs_552235699

2 SubmittersRCV003539018

NM_001277115.2(DNAH11):c.12804G>A (p.Met4268Ile)

SNV
Germline

Chr7:21894676

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366954404

rs_1283821643

2 SubmittersRCV003539091

NM_001277115.2(DNAH11):c.9173G>C (p.Arg3058Thr)

SNV
Germline

Chr7:21773836

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181893

rs_770558724

2 SubmittersRCV003539287

NM_003114.5(SPAG1):c.1476T>C (p.Asn492=)

SNV
Germline

Chr8:100213859

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 28
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4827501

rs_377184852

2 SubmittersRCV003581108 RCV005054462

NM_001369.3(DNAH5):c.7097G>A (p.Arg2366Gln)

SNV
Germline

Chr5:13814738

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359190822

rs_2151800505

1 SubmittersRCV003538892

NM_001277115.2(DNAH11):c.6733C>T (p.Gln2245Ter)

SNV
Germline

Chr7:21710602

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA4180971

rs_767078773

1 SubmittersRCV003538897

NM_012144.4(DNAI1):c.1643G>A (p.Trp548Ter)

SNV
Germline

Chr9:34514467

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Kartagener syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA192651619

rs_1024654594

2 SubmittersRCV003538973 RCV005047667

NM_001277115.2(DNAH11):c.11039C>T (p.Thr3680Ile)

SNV
Germline

Chr7:21852609

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4182579

rs_759665328

3 SubmittersRCV003538983 RCV005363143

NM_001369.3(DNAH5):c.8497C>A (p.Arg2833Ser)

SNV
Germline

Chr5:13788866

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359217938

rs_766481283

1 SubmittersRCV003538990

NM_001277115.2(DNAH11):c.9598-1G>C

SNV
Germline

Chr7:21786623

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366939897

rs_2535259357

1 SubmittersRCV003539238

NM_145045.5(ODAD3):c.118C>T (p.Arg40Ter)

SNV
Germline

Chr19:11434899

Pathogenic

Primary ciliary dyskinesia 30

Criteria Provided
Single Submitter

CA404128422

rs_1437321108

1 SubmittersRCV003587355

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_001277115.2(DNAH11):c.13420C>T (p.Gln4474Ter)

SNV
Germline

Chr7:21901123

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366957031

rs_1467862243

1 SubmittersRCV003538857

NM_001277115.2(DNAH11):c.5404A>G (p.Ile1802Val)

SNV
Germline

Chr7:21681621

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180394

rs_771431346

2 SubmittersRCV003538880

NM_001206927.2(DNAH8):c.9070C>T (p.Arg3024Ter)

SNV
Germline

Chr6:38899782

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3790388

rs_375764737

1 SubmittersRCV003539061

NM_001277115.2(DNAH11):c.10026+1G>A

SNV
Germline

Chr7:21789343

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366942494

rs_2535272453

1 SubmittersRCV003539216

NM_001277115.2(DNAH11):c.8926C>T (p.Arg2976Ter)

SNV
Germline

Chr7:21750350

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366956463

rs_1298378020

1 SubmittersRCV003539222

NM_001277115.2(DNAH11):c.4337G>C (p.Arg1446Thr)

SNV
Germline

Chr7:21619182

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA155109129

rs_1021905098

2 SubmittersRCV003539228

NM_001277115.2(DNAH11):c.11761G>T (p.Glu3921Ter)

SNV
Germline

Chr7:21867929

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366962406

rs_774963422

1 SubmittersRCV003539232

NM_015896.4(ZMYND10):c.1096C>T (p.Gln366Ter)

SNV
Germline

Chr3:50341835

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA2417000

rs_761505231

1 SubmittersRCV003535149

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_001369.3(DNAH5):c.13412G>A (p.Trp4471Ter)

SNV
Germline

Chr5:13701363

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359192908

rs_761077963

1 SubmittersRCV003535207

NM_001277115.2(DNAH11):c.7978C>T (p.Gln2660Ter)

SNV
Germline

Chr7:21741990

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA366951744

rs_1562520885

2 SubmittersRCV003535266 RCV005047694

NM_001369.3(DNAH5):c.8648-2A>T

SNV
Germline

Chr5:13786353

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359215792

rs_2546713854

1 SubmittersRCV003536574

NM_001277115.2(DNAH11):c.5594G>A (p.Arg1865Gln)

SNV
Germline

Chr7:21683917

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180475

rs_749869317

2 SubmittersRCV003536577

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_012144.4(DNAI1):c.2001+1G>T

SNV
Germline

Chr9:34517468

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373267118

rs_397515563

1 SubmittersRCV003536579

NM_001277115.2(DNAH11):c.752C>G (p.Ser251Ter)

SNV
Germline

Chr7:21559662

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366932813

rs_1783373825

1 SubmittersRCV003535191

NM_001034853.2(RPGR):c.3082G>T (p.Glu1028Ter)

SNV
Germline

ChrX:38285917

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412729056

rs_1296728483

1 SubmittersRCV003535324

NM_001277115.2(DNAH11):c.8716A>G (p.Met2906Val)

SNV
Germline

Chr7:21749720

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366955777

rs_1412176108

2 SubmittersRCV003535411

NM_015896.4(ZMYND10):c.88G>T (p.Glu30Ter)

SNV
Germline

Chr3:50345492

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA352945927

rs_587731307

1 SubmittersRCV003535488

NM_001277115.2(DNAH11):c.4791T>A (p.Tyr1597Ter)

SNV
Germline

Chr7:21637676

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366934226

rs_748873603

1 SubmittersRCV003535537

NM_001034853.2(RPGR):c.442G>C (p.Gly148Arg)

SNV
Germline

ChrX:38318856

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412745041

rs_2067876063

1 SubmittersRCV003535544

NM_001369.3(DNAH5):c.2259+1G>A

SNV
Germline

Chr5:13900205

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359203174

rs_1341751250

1 SubmittersRCV003535545

NM_012144.4(DNAI1):c.622-2A>G

SNV
Germline

Chr9:34491493

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373248524

rs_1824590832

1 SubmittersRCV003535183

NM_018076.5(ODAD2):c.247G>T (p.Glu83Ter)

SNV
Germline

Chr10:27987521

Pathogenic

Primary ciliary dyskinesia 23

Criteria Provided
Single Submitter

CA5453865

rs_747965765

1 SubmittersRCV003581446

NM_001277115.2(DNAH11):c.1846C>T (p.Gln616Ter)

SNV
Germline

Chr7:21588199

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366938865

rs_774665658

1 SubmittersRCV003535187

NM_001034853.2(RPGR):c.2782G>T (p.Gly928Ter)

SNV
Germline

ChrX:38286217

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412729790

rs_2519787093

1 SubmittersRCV003535232

NM_001369.3(DNAH5):c.1090-2A>C

SNV
Germline

Chr5:13916457

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359217296

rs_2547135442

1 SubmittersRCV003535525

NM_001277115.2(DNAH11):c.2839C>T (p.Gln947Ter)

SNV
Germline

Chr7:21599958

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366944523

rs_1554318136

1 SubmittersRCV003536545

NM_001277115.2(DNAH11):c.883-1G>A

SNV
Germline

Chr7:21561070

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA366932014

rs_2534482993

2 SubmittersRCV003535175 RCV005254830

NM_001277115.2(DNAH11):c.2491C>T (p.Gln831Ter)

SNV
Germline

Chr7:21591401

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366942817

rs_753129819

1 SubmittersRCV003535176

NM_001277115.2(DNAH11):c.4726-1G>A

SNV
Germline

Chr7:21637610

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA155068340

rs_72657326

2 SubmittersRCV003535177 RCV005254831

NM_001277115.2(DNAH11):c.7914G>C (p.Gln2638His)

SNV
Germline

Chr7:21739673

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA155112065

rs_72657362

2 SubmittersRCV003535178 RCV005254832

NM_001277115.2(DNAH11):c.9436G>T (p.Glu3146Ter)

SNV
Germline

Chr7:21779057

Pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA366937765

rs_762421117

2 SubmittersRCV003535180 RCV005002027

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_001364171.2(ODAD1):c.483+1G>A

SNV
Germline

Chr19:48311993

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA406664469

rs_2515950018

1 SubmittersRCV003535226

NM_001277115.2(DNAH11):c.7636G>A (p.Ala2546Thr)

SNV
Germline

Chr7:21735835

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181295

rs_764813626

2 SubmittersRCV003535367

NM_001277115.2(DNAH11):c.2199T>A (p.Tyr733Ter)

SNV
Germline

Chr7:21590947

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366941936

rs_2128443515

1 SubmittersRCV003535381

NM_001256715.2(DNAAF3):c.51G>A (p.Trp17Ter)

SNV
Germline

Chr19:55166363

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA9668269

rs_760237737

1 SubmittersRCV003535449

NM_001277115.2(DNAH11):c.685G>T (p.Glu229Ter)

SNV
Germline

Chr7:21558991

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366932659

rs_1783333404

1 SubmittersRCV003535506

NM_001277115.2(DNAH11):c.6604G>A (p.Asp2202Asn)

SNV
Germline

Chr7:21707756

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180907

rs_186535951

2 SubmittersRCV003536718

NM_012144.4(DNAI1):c.1718+2T>G

SNV
Germline

Chr9:34514544

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373264028

rs_2492126891

1 SubmittersRCV003536721

NM_012144.4(DNAI1):c.683G>A (p.Trp228Ter)

SNV
Germline

Chr9:34493195

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373248908

rs_1824643950

1 SubmittersRCV003536725

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_001369.3(DNAH5):c.9606-1G>A

SNV
Germline

Chr5:13769616

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359203382

rs_1160531469

1 SubmittersRCV003536819

NM_023036.6(DNAI2):c.15C>A (p.Tyr5Ter)

SNV
Germline

Chr17:74281832

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA400911579

rs_760845605

1 SubmittersRCV003536874

NM_001369.3(DNAH5):c.3834+1G>A

SNV
Germline

Chr5:13870766

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359231160

rs_2546995478

1 SubmittersRCV003536981

NM_001277115.2(DNAH11):c.6328A>C (p.Ile2110Leu)

SNV
Germline

Chr7:21704488

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180784

rs_370269376

2 SubmittersRCV003537030

NM_001369.3(DNAH5):c.7420G>T (p.Glu2474Ter)

SNV
Germline

Chr5:13810248

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359232503

rs_776559491

1 SubmittersRCV003537031

NM_001277115.2(DNAH11):c.2998C>T (p.Gln1000Ter)

SNV
Germline

Chr7:21600117

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366944873

rs_2534628821

1 SubmittersRCV003538011

NM_017950.4(CCDC40):c.1696C>T (p.Gln566Ter)

SNV
Germline

Chr17:80081679

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA8814000

rs_747620444

1 SubmittersRCV003536614

NM_012144.4(DNAI1):c.380T>A (p.Leu127Ter)

SNV
Germline

Chr9:34489441

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373245241

rs_2492032587

1 SubmittersRCV003536622

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_001277115.2(DNAH11):c.3000+1G>T

SNV
Germline

Chr7:21600120

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA155087243

rs_986470719

1 SubmittersRCV003536714

NM_001034853.2(RPGR):c.3255C>A (p.Tyr1085Ter)

SNV
Germline

ChrX:38285744

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412727523

rs_2519780519

1 SubmittersRCV003536817

NM_001277115.2(DNAH11):c.2665G>T (p.Glu889Ter)

SNV
Germline

Chr7:21591575

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366943194

rs_767231963

1 SubmittersRCV003536916

NM_001277115.2(DNAH11):c.12088G>T (p.Glu4030Ter)

SNV
Germline

Chr7:21873394

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366963195

rs_763657340

1 SubmittersRCV003536686

NM_001369.3(DNAH5):c.12500-2A>G

SNV
Germline

Chr5:13717522

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359208543

rs_2546512953

1 SubmittersRCV003536798

NM_001277115.2(DNAH11):c.6977G>A (p.Trp2326Ter)

SNV
Germline

Chr7:21711854

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366941787

rs_2534991105

1 SubmittersRCV003536906

NM_001369.3(DNAH5):c.4488G>A (p.Trp1496Ter)

SNV
Germline

Chr5:13864505

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359224064

rs_2546978701

1 SubmittersRCV003536908

NM_001277115.2(DNAH11):c.11053G>T (p.Glu3685Ter)

SNV
Germline

Chr7:21852623

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366959410

rs_2535464638

1 SubmittersRCV003537007

NM_001206927.2(DNAH8):c.10663-2A>G

SNV
Germline

Chr6:38923056

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA364011561

rs_1216207042

1 SubmittersRCV003537014

NM_001277115.2(DNAH11):c.1558C>T (p.Gln520Ter)

SNV
Germline

Chr7:21571938

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366936039

rs_540157623

1 SubmittersRCV003536631

NM_001277115.2(DNAH11):c.6834+1G>T

SNV
Germline

Chr7:21710704

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366941018

rs_1263473412

1 SubmittersRCV003536731

NM_001206927.2(DNAH8):c.8108C>A (p.Ser2703Ter)

SNV
Germline

Chr6:38883428

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA363991836

rs_2533205504

1 SubmittersRCV003536743

NM_001369.3(DNAH5):c.5485-1G>T

SNV
Germline

Chr5:13841131

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359210482

rs_1765101106

1 SubmittersRCV003536784

NM_145045.5(ODAD3):c.49C>T (p.Gln17Ter)

SNV
Germline

Chr19:11434968

Pathogenic

Primary ciliary dyskinesia 30

Criteria Provided
Single Submitter

CA404128716

rs_2512494505

1 SubmittersRCV003587772

NM_001277115.2(DNAH11):c.8842A>G (p.Ile2948Val)

SNV
Germline

Chr7:21750266

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366956154

rs_1343210471

2 SubmittersRCV003536990

NM_001277115.2(DNAH11):c.8252T>C (p.Ile2751Thr)

SNV
Germline

Chr7:21744535

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181522

rs_774996068

2 SubmittersRCV003536993

NM_001277115.2(DNAH11):c.2596A>G (p.Lys866Glu)

SNV
Germline

Chr7:21591506

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179379

rs_774136727

2 SubmittersRCV003538225

NM_001369.3(DNAH5):c.6908G>C (p.Gly2303Ala)

SNV
Germline

Chr5:13817628

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359193036

rs_1580399696

1 SubmittersRCV003538277

NM_001277115.2(DNAH11):c.2170-1G>C

SNV
Germline

Chr7:21590917

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366941780

rs_2534596060

1 SubmittersRCV003538321

NM_001277115.2(DNAH11):c.4726-2A>G

SNV
Germline

Chr7:21637609

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366934044

rs_2534777249

1 SubmittersRCV003538322

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_001277115.2(DNAH11):c.7027A>T (p.Lys2343Ter)

SNV
Germline

Chr7:21717818

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366943307

rs_2535008828

1 SubmittersRCV003538060

NM_001369.3(DNAH5):c.640C>T (p.Gln214Ter)

SNV
Germline

Chr5:13922127

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359222105

rs_2547155495

1 SubmittersRCV003538298

NM_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_001369.3(DNAH5):c.10735C>T (p.Gln3579Ter)

SNV
Germline

Chr5:13753370

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359191512

rs_2546615030

1 SubmittersRCV003538162

NM_001277115.2(DNAH11):c.10476G>A (p.Trp3492Ter)

SNV
Germline

Chr7:21816610

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366948747

rs_2535357099

1 SubmittersRCV003538198

NM_001277115.2(DNAH11):c.7914+2T>C

SNV
Germline

Chr7:21739675

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366951030

rs_2535099666

1 SubmittersRCV003538352

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_001369.3(DNAH5):c.11211+2T>C

SNV
Germline

Chr5:13751076

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359188795

rs_2546607933

1 SubmittersRCV003538094

NM_001277115.2(DNAH11):c.2668G>T (p.Glu890Ter)

SNV
Germline

Chr7:21599787

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366943656

rs_1182156737

1 SubmittersRCV003538140

NM_001369.3(DNAH5):c.7647C>G (p.Tyr2549Ter)

SNV
Germline

Chr5:13809149

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA359230931

rs_2546801150

2 SubmittersRCV003538179 RCV005036906

NM_001034853.2(RPGR):c.247+1G>A

SNV
Germline

ChrX:38322852

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412745493

rs_2519909173

1 SubmittersRCV003538181

NM_001277115.2(DNAH11):c.6835-1G>A

SNV
Germline

Chr7:21711711

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366941212

rs_2534990487

1 SubmittersRCV003538192

NM_001277115.2(DNAH11):c.2234C>G (p.Ser745Ter)

SNV
Germline

Chr7:21590982

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366942040

rs_1784654067

1 SubmittersRCV003538238

NM_001206927.2(DNAH8):c.12939C>A (p.Cys4313Ter)

SNV
Germline

Chr6:38982450

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA364008206

rs_751151452

1 SubmittersRCV003538241

NM_178452.6(DNAAF1):c.442G>T (p.Glu148Ter)

SNV
Germline

Chr16:84154666

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA396942948

rs_2507367277

1 SubmittersRCV003648037

NM_001277115.2(DNAH11):c.4519C>T (p.Leu1507Phe)

SNV
Germline

Chr7:21635889

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180084

rs_545466506

2 SubmittersRCV003648066

NM_001277115.2(DNAH11):c.7787G>A (p.Arg2596Gln)

SNV
Germline

Chr7:21738842

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4181347

rs_780492669

3 SubmittersRCV003648166 RCV005254849 RCV004593384

NM_012472.6(DNAAF11):c.451G>T (p.Glu151Ter)

SNV
Germline

Chr8:132632942

Pathogenic

Primary ciliary dyskinesia 19

Criteria Provided
Single Submitter

CA372295390

rs_1218098769

1 SubmittersRCV003649542

NM_001277115.2(DNAH11):c.3939C>G (p.Tyr1313Ter)

SNV
Germline

Chr7:21615200

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA4179826

rs_376470998

1 SubmittersRCV003648217

NM_001206927.2(DNAH8):c.3150+1G>A

SNV
Germline

Chr6:38805597

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3788733

rs_753024616

1 SubmittersRCV003648024

NM_001277115.2(DNAH11):c.3425+1G>A

SNV
Germline

Chr7:21601180

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA4179615

rs_765958312

1 SubmittersRCV003648186

NM_001369.3(DNAH5):c.13018C>T (p.Gln4340Ter)

SNV
Germline

Chr5:13714512

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3201476

rs_548721070

1 SubmittersRCV003648212

NM_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_001277115.2(DNAH11):c.5005C>T (p.Gln1669Ter)

SNV
Germline

Chr7:21655892

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA366938020

rs_2534830355

2 SubmittersRCV003648205 RCV004554922

NM_001277115.2(DNAH11):c.4471C>T (p.Gln1491Ter)

SNV
Germline

Chr7:21620049

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366953110

rs_2534711439

1 SubmittersRCV003647256

NM_001277115.2(DNAH11):c.9301A>G (p.Asn3101Asp)

SNV
Germline

Chr7:21773964

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181916

rs_372462580

2 SubmittersRCV003647316

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_001277115.2(DNAH11):c.2667+1G>C

SNV
Germline

Chr7:21591578

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366943202

rs_1784691873

1 SubmittersRCV003647378

NM_001369.3(DNAH5):c.10870C>T (p.Gln3624Ter)

SNV
Germline

Chr5:13753235

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA359190719

rs_1295167678

2 SubmittersRCV003647441 RCV004790584

NM_001277115.2(DNAH11):c.1804G>T (p.Glu602Ter)

SNV
Germline

Chr7:21588157

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366938664

rs_2534583808

1 SubmittersRCV003647479

NM_018076.5(ODAD2):c.2368C>T (p.Arg790Ter)

SNV
Germline

Chr10:27935137

Pathogenic

Primary ciliary dyskinesia 23

Criteria Provided
Single Submitter

CA376391465

rs_1229705288

1 SubmittersRCV003741594

NM_001369.3(DNAH5):c.12262C>T (p.Gln4088Ter)

SNV
Germline

Chr5:13721017

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359213082

rs_1245106080

1 SubmittersRCV003647337

NM_001277115.2(DNAH11):c.7264C>T (p.Gln2422Ter)

SNV
Germline

Chr7:21720854

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366944345

rs_2535018649

1 SubmittersRCV003647343

NM_012144.4(DNAI1):c.1A>G (p.Met1Val)

SNV
Germline

Chr9:34459006

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373247676

rs_1823881286

1 SubmittersRCV003647373

NM_001277115.2(DNAH11):c.4005T>A (p.Tyr1335Ter)

SNV
Germline

Chr7:21615266

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366951346

rs_769315133

1 SubmittersRCV003647430

NM_001277115.2(DNAH11):c.6546+2T>C

SNV
Germline

Chr7:21705539

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA4180857

rs_748950751

1 SubmittersRCV003647438

NM_001277115.2(DNAH11):c.2275-2A>G

SNV
Germline

Chr7:21591183

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366942218

rs_2534597561

1 SubmittersRCV003647471

NM_023036.6(DNAI2):c.562C>T (p.Gln188Ter)

SNV
Germline

Chr17:74289688

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA400906220

rs_1194460219

1 SubmittersRCV003647505

NM_001369.3(DNAH5):c.13338+1G>A

SNV
Germline

Chr5:13708122

Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA359196214

rs_1219958424

2 SubmittersRCV003647509 RCV005356488

NM_001277115.2(DNAH11):c.8412G>A (p.Trp2804Ter)

SNV
Germline

Chr7:21744965

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366954114

rs_1167519702

1 SubmittersRCV003647499

NM_001369.3(DNAH5):c.5271+1G>T

SNV
Germline

Chr5:13844836

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359213481

rs_1288777017

1 SubmittersRCV003647502

NM_003114.5(SPAG1):c.595+1G>A

SNV
Germline

Chr8:100184063

Pathogenic

Primary ciliary dyskinesia 28

Criteria Provided
Single Submitter

CA371802177

rs_2489323420

1 SubmittersRCV003741495

NM_001277115.2(DNAH11):c.905A>C (p.Lys302Thr)

SNV
Germline

Chr7:21561093

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366932062

rs_1479197164

2 SubmittersRCV003647324

NM_001277115.2(DNAH11):c.3182C>A (p.Ser1061Tyr)

SNV
Germline

Chr7:21600857

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179545

rs_367665090

2 SubmittersRCV003647418

NM_001256715.2(DNAAF3):c.458G>A (p.Trp153Ter)

SNV
Germline

Chr19:55162155

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA407456804

rs_2085848277

1 SubmittersRCV003647551

NM_001010892.3(RSPH4A):c.1821G>A (p.Trp607Ter)

SNV
Germline

Chr6:116630457

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA365409831

rs_2482810069

1 SubmittersRCV003647555

NM_001369.3(DNAH5):c.9530C>A (p.Ser3177Ter)

SNV
Germline

Chr5:13770824

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359204487

rs_2546663053

1 SubmittersRCV003649730

NM_001369.3(DNAH5):c.8030G>C (p.Arg2677Pro)

SNV
Germline

Chr5:13793709

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359221624

rs_886043448

1 SubmittersRCV003649759

NM_012144.4(DNAI1):c.1719-2A>G

SNV
Germline

Chr9:34514638

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373264098

rs_1372668734

1 SubmittersRCV003649797

NM_001277115.2(DNAH11):c.5822G>A (p.Trp1941Ter)

SNV
Germline

Chr7:21687425

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366949630

rs_779535145

1 SubmittersRCV003647539

NM_001277115.2(DNAH11):c.1194+2T>C

SNV
Germline

Chr7:21564399

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366934098

rs_2534496753

1 SubmittersRCV003647655

NM_003114.5(SPAG1):c.1435+2T>C

SNV
Germline

Chr8:100213430

Likely pathogenic

Primary ciliary dyskinesia 28

Criteria Provided
Single Submitter

CA371809690

rs_2489447196

1 SubmittersRCV003741772

NM_001369.3(DNAH5):c.12673C>T (p.Gln4225Ter)

SNV
Germline

Chr5:13717347

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359206421

rs_1390701361

1 SubmittersRCV003649826

NM_001277115.2(DNAH11):c.3255+1G>T

SNV
Germline

Chr7:21600931

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366945453

rs_2534633028

1 SubmittersRCV003647567

NM_023036.6(DNAI2):c.1245G>A (p.Trp415Ter)

SNV
Germline

Chr17:74309286

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA400911746

rs_2509762865

1 SubmittersRCV003649707

NM_001369.3(DNAH5):c.9019A>T (p.Lys3007Ter)

SNV
Germline

Chr5:13777288

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359210946

rs_1754239306

1 SubmittersRCV003649732

NM_001369.3(DNAH5):c.8875G>T (p.Gly2959Ter)

SNV
Germline

Chr5:13780905

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359212827

rs_147443285

1 SubmittersRCV003649733

NM_001277115.2(DNAH11):c.1A>C (p.Met1Leu)

SNV
Germline

Chr7:21543246

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366930939

rs_1162526607

1 SubmittersRCV003650844

NM_001277115.2(DNAH11):c.692+2T>C

SNV
Germline

Chr7:21559000

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366932681

rs_2534461499

1 SubmittersRCV003650855

NM_001034853.2(RPGR):c.2878G>T (p.Glu960Ter)

SNV
Germline

ChrX:38286121

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412729559

rs_2519785746

1 SubmittersRCV003650936

NM_018139.3(DNAAF2):c.754G>T (p.Glu252Ter)

SNV
Germline

Chr14:49634396

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA389630596

rs_758230960

1 SubmittersRCV003650943

NM_017950.4(CCDC40):c.1160-2A>C

SNV
Germline

Chr17:80058492

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA401324024

rs_2510295726

1 SubmittersRCV003650944

NM_001277115.2(DNAH11):c.13281C>A (p.Tyr4427Ter)

SNV
Germline

Chr7:21900098

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366956279

rs_760516093

1 SubmittersRCV003651023

NC_000023.11:g.38276774T>C

SNV
Germline

ChrX:38276774

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412722409

rs_2519758093

1 SubmittersRCV003651069

NM_023036.6(DNAI2):c.610+1G>T

SNV
Germline

Chr17:74289737

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA400906501

rs_758109864

1 SubmittersRCV003651133

NM_080860.4(RSPH1):c.390C>A (p.Tyr130Ter)

SNV
Germline

Chr21:42485780

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA410365922

rs_529633380

1 SubmittersRCV003651141

NM_001277115.2(DNAH11):c.2320A>T (p.Lys774Ter)

SNV
Germline

Chr7:21591230

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366942421

rs_2534597888

1 SubmittersRCV003650833

NM_001277115.2(DNAH11):c.8674-1G>A

SNV
Germline

Chr7:21749677

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366955641

rs_2535134459

1 SubmittersRCV003650923

NM_001206927.2(DNAH8):c.12963G>A (p.Trp4321Ter)

SNV
Germline

Chr6:38984217

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA364009600

rs_2533918431

1 SubmittersRCV003651099

NM_001277115.2(DNAH11):c.4933C>T (p.Gln1645Ter)

SNV
Germline

Chr7:21639054

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366934869

rs_2534781832

1 SubmittersRCV003651125

NM_001369.3(DNAH5):c.2577+1G>T

SNV
Germline

Chr5:13890975

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA113936604

rs_867422125

1 SubmittersRCV003649846

NM_001277115.2(DNAH11):c.6274-1G>A

SNV
Germline

Chr7:21704433

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366936855

rs_1489010290

1 SubmittersRCV003649849

NM_001369.3(DNAH5):c.1645-2A>G

SNV
Germline

Chr5:13902140

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359208728

rs_2547095136

1 SubmittersRCV003650871

NM_001206927.2(DNAH8):c.12249-2A>T

SNV
Germline

Chr6:38951316

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA363996453

rs_2533701153

1 SubmittersRCV003651096

NM_001364171.2(ODAD1):c.988+2T>C

SNV
Germline

Chr19:48303648

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA406660911

rs_2515937569

1 SubmittersRCV003650908

NM_001277115.2(DNAH11):c.13303+1G>T

SNV
Germline

Chr7:21900121

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366956371

rs_2534155120

1 SubmittersRCV003650957

NM_001277115.2(DNAH11):c.4377+1G>A

SNV
Germline

Chr7:21619223

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366952733

rs_2534707554

1 SubmittersRCV003651032

NM_001369.3(DNAH5):c.3263-2A>G

SNV
Germline

Chr5:13876819

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359190455

rs_1327044106

1 SubmittersRCV003651072

NM_001256715.2(DNAAF3):c.448C>T (p.Gln150Ter)

SNV
Germline

Chr19:55162165

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA407457617

rs_1040183266

1 SubmittersRCV003651108

NM_001369.3(DNAH5):c.6026A>G (p.Gln2009Arg)

SNV
Germline

Chr5:13830632

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3203505

rs_561922486

2 SubmittersRCV003651184

NM_023036.6(DNAI2):c.412G>T (p.Glu138Ter)

SNV
Germline

Chr17:74287043

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA400904815

rs_2051791551

1 SubmittersRCV003651187

NM_001277115.2(DNAH11):c.7861G>A (p.Val2621Ile)

SNV
Germline

Chr7:21739620

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366950878

rs_1444502845

2 SubmittersRCV003651222

NM_001369.3(DNAH5):c.10900A>T (p.Arg3634Ter)

SNV
Germline

Chr5:13752262

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359190456

rs_1204076551

1 SubmittersRCV003651256

NM_001369.3(DNAH5):c.4087G>T (p.Glu1363Ter)

SNV
Germline

Chr5:13866249

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359226326

rs_776835054

1 SubmittersRCV003651296

NM_023036.6(DNAI2):c.1326C>A (p.Cys442Ter)

SNV
Germline

Chr17:74309367

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 9

Criteria Provided
Multiple Submitters
No Conflicts

CA400912339

rs_537816710

2 SubmittersRCV003651297 RCV005030186

NM_001277115.2(DNAH11):c.3952C>T (p.Gln1318Ter)

SNV
Germline

Chr7:21615213

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366951229

rs_2534689898

1 SubmittersRCV003652307

NM_001277115.2(DNAH11):c.10165+1G>A

SNV
Germline

Chr7:21801276

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366944386

rs_2535310959

1 SubmittersRCV003652400

NM_001277115.2(DNAH11):c.7440+2T>C

SNV
Germline

Chr7:21725986

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366946198

rs_2535043152

1 SubmittersRCV003652438

NM_001277115.2(DNAH11):c.600T>A (p.Tyr200Ter)

SNV
Germline

Chr7:21558906

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366932482

rs_1489686376

1 SubmittersRCV003652440

NM_001277115.2(DNAH11):c.5737A>G (p.Met1913Val)

SNV
Germline

Chr7:21687214

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366949435

rs_1352586389

2 SubmittersRCV003651244

NM_001277115.2(DNAH11):c.1857T>A (p.Cys619Ter)

SNV
Germline

Chr7:21588520

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366939009

rs_1361512116

1 SubmittersRCV003651288

NM_001277115.2(DNAH11):c.9152C>T (p.Thr3051Ile)

SNV
Germline

Chr7:21773815

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366936440

rs_1335985800

2 SubmittersRCV003652337

NM_001369.3(DNAH5):c.3444G>A (p.Trp1148Ter)

SNV
Germline

Chr5:13871718

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3204266

rs_771350745

1 SubmittersRCV003652423

NM_001277115.2(DNAH11):c.10531G>T (p.Gly3511Ter)

SNV
Germline

Chr7:21816665

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366949089

rs_1562563770

1 SubmittersRCV003652431

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_012144.4(DNAI1):c.1319G>A (p.Trp440Ter)

SNV
Germline

Chr9:34512116

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Kartagener syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA192649927

rs_939569468

2 SubmittersRCV003651201 RCV005047752

NM_001369.3(DNAH5):c.1320+2T>C

SNV
Germline

Chr5:13914518

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359214701

rs_2547129339

1 SubmittersRCV003651236

NM_001277115.2(DNAH11):c.12195+1G>A

SNV
Germline

Chr7:21873502

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366963430

rs_2534056842

1 SubmittersRCV003651270

NM_012144.4(DNAI1):c.1591C>T (p.Gln531Ter)

SNV
Germline

Chr9:34514415

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373263121

rs_2492126192

1 SubmittersRCV003651277

NM_001277115.2(DNAH11):c.9042G>A (p.Trp3014Ter)

SNV
Germline

Chr7:21765529

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366935574

rs_2535189943

1 SubmittersRCV003652330

NM_001206927.2(DNAH8):c.3093T>G (p.Tyr1031Ter)

SNV
Germline

Chr6:38805539

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA363995429

rs_1488305206

1 SubmittersRCV003651190

NM_001206927.2(DNAH8):c.6860T>G (p.Leu2287Ter)

SNV
Germline

Chr6:38870432

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA364026115

rs_2533069131

1 SubmittersRCV003651191

NM_012144.4(DNAI1):c.1818+2T>A

SNV
Germline

Chr9:34514741

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373264830

rs_2492127795

1 SubmittersRCV003651269

NM_001277115.2(DNAH11):c.9511C>T (p.Gln3171Ter)

SNV
Germline

Chr7:21784454

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366939062

rs_2535252328

1 SubmittersRCV003651305

NM_001369.3(DNAH5):c.8848G>T (p.Gly2950Ter)

SNV
Germline

Chr5:13780932

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA359212909

rs_1338867680

2 SubmittersRCV003652487 RCV005036934

NM_001369.3(DNAH5):c.12630C>A (p.Tyr4210Ter)

SNV
Germline

Chr5:13717390

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359207000

rs_766099303

1 SubmittersRCV003652625

NM_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_001277115.2(DNAH11):c.9311A>G (p.Gln3104Arg)

SNV
Germline

Chr7:21773974

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181922

rs_759715306

2 SubmittersRCV003652661

NM_001369.3(DNAH5):c.5272-1G>A

SNV
Germline

Chr5:13841905

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359212572

rs_1765221562

1 SubmittersRCV003652703

NM_001277115.2(DNAH11):c.4972G>A (p.Asp1658Asn)

SNV
Germline

Chr7:21655859

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180259

rs_749120592

2 SubmittersRCV003652756

NM_001277115.2(DNAH11):c.4300G>A (p.Ala1434Thr)

SNV
Germline

Chr7:21619145

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179992

rs_772534040

2 SubmittersRCV003652564

NM_001369.3(DNAH5):c.4117-1G>A

SNV
Germline

Chr5:13865907

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359225881

rs_2546983271

1 SubmittersRCV003652619

NM_001364171.2(ODAD1):c.1503-2A>G

SNV
Germline

Chr19:48297670

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA309294196

rs_926750246

1 SubmittersRCV003652653

NM_001206927.2(DNAH8):c.8259+1G>A

SNV
Germline

Chr6:38883999

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA363992560

rs_2533212514

1 SubmittersRCV003652659

NM_001277115.2(DNAH11):c.1565C>T (p.Thr522Ile)

SNV
Germline

Chr7:21571945

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179019

rs_192594614

2 SubmittersRCV003652690

NM_001369.3(DNAH5):c.6430C>T (p.Gln2144Ter)

SNV
Germline

Chr5:13829524

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3203409

rs_748882657

1 SubmittersRCV003652784

NM_001277115.2(DNAH11):c.7299G>A (p.Trp2433Ter)

SNV
Germline

Chr7:21725843

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366945534

rs_748399924

1 SubmittersRCV003652455

NM_001369.3(DNAH5):c.694A>T (p.Lys232Ter)

SNV
Germline

Chr5:13920584

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359220827

rs_2547149327

1 SubmittersRCV003652458

NM_012144.4(DNAI1):c.1677C>A (p.Cys559Ter)

SNV
Germline

Chr9:34514501

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373263715

rs_1379578270

1 SubmittersRCV003652460

NM_001277115.2(DNAH11):c.5094+2T>G

SNV
Germline

Chr7:21655983

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366938377

rs_1583567778

1 SubmittersRCV003652504

NM_001277115.2(DNAH11):c.130G>T (p.Glu44Ter)

SNV
Germline

Chr7:21543375

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366931209

rs_1203659423

1 SubmittersRCV003652714

NM_001277115.2(DNAH11):c.7954G>A (p.Asp2652Asn)

SNV
Germline

Chr7:21741966

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181431

rs_749250864

2 SubmittersRCV003652738

NM_001277115.2(DNAH11):c.4396C>T (p.Gln1466Ter)

SNV
Germline

Chr7:21619974

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366952831

rs_2534711045

1 SubmittersRCV003653711

NM_001369.3(DNAH5):c.11455+1G>T

SNV
Germline

Chr5:13737251

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359225716

rs_2546568726

1 SubmittersRCV003652492

NM_001277115.2(DNAH11):c.8904G>A (p.Trp2968Ter)

SNV
Germline

Chr7:21750328

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366956407

rs_1426204968

1 SubmittersRCV003652538

NM_001369.3(DNAH5):c.6356T>A (p.Leu2119Ter)

SNV
Germline

Chr5:13829598

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359200075

rs_2546875919

1 SubmittersRCV003652547

NM_001277115.2(DNAH11):c.2069G>A (p.Trp690Ter)

SNV
Germline

Chr7:21589303

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366940719

rs_1784592491

1 SubmittersRCV003652589

NM_001369.3(DNAH5):c.476G>T (p.Gly159Val)

SNV
Germline

Chr5:13922291

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3205169

rs_185219431

2 SubmittersRCV003652713

NM_001277115.2(DNAH11):c.11112T>A (p.Cys3704Ter)

SNV
Germline

Chr7:21854365

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366959916

rs_2535470241

1 SubmittersRCV003653690

NM_001277115.2(DNAH11):c.3935A>G (p.Glu1312Gly)

SNV
Germline

Chr7:21615196

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366951187

rs_1235025695

2 SubmittersRCV003653696

NM_001034853.2(RPGR):c.97A>T (p.Lys33Ter)

SNV
Germline

ChrX:38323456

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412745897

rs_2519912343

1 SubmittersRCV003653774

NM_001369.3(DNAH5):c.4054-2A>G

SNV
Germline

Chr5:13866284

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359226976

rs_1769239782

1 SubmittersRCV003653895

NM_001277115.2(DNAH11):c.2346C>G (p.Tyr782Ter)

SNV
Germline

Chr7:21591256

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366942515

rs_376452135

1 SubmittersRCV003653901

NM_001277115.2(DNAH11):c.749G>A (p.Trp250Ter)

SNV
Germline

Chr7:21559659

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366932802

rs_2534464142

1 SubmittersRCV003653978

NM_001277115.2(DNAH11):c.982+1G>C

SNV
Germline

Chr7:21561171

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366932297

rs_2534483587

1 SubmittersRCV003653892

NM_001369.3(DNAH5):c.2052+2T>C

SNV
Germline

Chr5:13901250

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359204664

rs_2547091584

1 SubmittersRCV003653929

NM_001369.3(DNAH5):c.8272G>T (p.Glu2758Ter)

SNV
Germline

Chr5:13792170

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359219616

rs_2546737515

1 SubmittersRCV003653935

NM_001277115.2(DNAH11):c.10879G>A (p.Asp3627Asn)

SNV
Germline

Chr7:21842731

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182509

rs_374860291

2 SubmittersRCV003653966

NM_012144.4(DNAI1):c.1204G>T (p.Gly402Cys)

SNV
Germline

Chr9:34506767

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373257006

rs_746647838

1 SubmittersRCV003653967

NM_178452.6(DNAAF1):c.1525G>T (p.Glu509Ter)

SNV
Germline

Chr16:84170353

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA396948607

rs_1295920871

1 SubmittersRCV003653969

NM_001277115.2(DNAH11):c.7126C>G (p.Leu2376Val)

SNV
Germline

Chr7:21717917

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181109

rs_549049467

2 SubmittersRCV003653999

NM_001277115.2(DNAH11):c.8798-1G>A

SNV
Germline

Chr7:21750221

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366955950

rs_1282229623

1 SubmittersRCV003653796

NM_001277115.2(DNAH11):c.5675C>T (p.Ala1892Val)

SNV
Germline

Chr7:21687152

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180513

rs_534484091

2 SubmittersRCV003653834

NM_001277115.2(DNAH11):c.8147T>C (p.Val2716Ala)

SNV
Germline

Chr7:21742159

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181471

rs_777735154

2 SubmittersRCV003653926

NM_001277115.2(DNAH11):c.7266+1G>T

SNV
Germline

Chr7:21720857

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366944363

rs_72657354

1 SubmittersRCV003654014

NC_000023.11:g.38269809G>A

SNV
Germline

ChrX:38269809

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA515651569

rs_2066802091

2 SubmittersRCV003653740 RCV003889324

NM_001277115.2(DNAH11):c.3474G>C (p.Gln1158His)

SNV
Germline

Chr7:21601444

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179651

rs_574898096

2 SubmittersRCV003653741

NM_001277115.2(DNAH11):c.10897-2A>T

SNV
Germline

Chr7:21852465

Likely pathogenic

Primary ciliary dyskinesia
DNAH11-related disorder

Criteria Provided
Single Submitter

CA366958706

rs_2535463696

2 SubmittersRCV003653783 RCV004738767

NM_012144.4(DNAI1):c.181-2A>T

SNV
Germline

Chr9:34485435

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373242309

rs_2492026077

1 SubmittersRCV003653785

NM_001277115.2(DNAH11):c.11683G>A (p.Ala3895Thr)

SNV
Germline

Chr7:21866656

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366962230

rs_1203128467

2 SubmittersRCV003653787

NM_001277115.2(DNAH11):c.5095-1G>A

SNV
Germline

Chr7:21658797

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366939541

rs_2534838713

1 SubmittersRCV003653861

NM_001277115.2(DNAH11):c.3320G>A (p.Ser1107Asn)

SNV
Germline

Chr7:21601074

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA155088017

rs_746194866

2 SubmittersRCV003653905

NM_001034853.2(RPGR):c.2278G>T (p.Glu760Ter)

SNV
Germline

ChrX:38286721

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412731019

rs_2519792372

1 SubmittersRCV003653908

NM_001369.3(DNAH5):c.9339G>A (p.Trp3113Ter)

SNV
Germline

Chr5:13776473

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359208066

rs_771586458

1 SubmittersRCV003654030

NM_001277115.2(DNAH11):c.11690+1G>A

SNV
Germline

Chr7:21866664

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366962245

rs_2535506167

1 SubmittersRCV003654081

NM_023036.6(DNAI2):c.1495-2A>T

SNV
Germline

Chr17:74312001

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA400912932

rs_2509773839

1 SubmittersRCV003654169

NM_001277115.2(DNAH11):c.1930C>T (p.Arg644Ter)

SNV
Germline

Chr7:21588593

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

CA366939390

rs_1228238442

2 SubmittersRCV003654018

NM_001277115.2(DNAH11):c.3380G>A (p.Trp1127Ter)

SNV
Germline

Chr7:21601134

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366946410

rs_2534633877

1 SubmittersRCV003654074

NM_001369.3(DNAH5):c.10996A>T (p.Arg3666Ter)

SNV
Germline

Chr5:13752166

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA359189773

rs_2546611536

2 SubmittersRCV003654042 RCV005036953

NM_015896.4(ZMYND10):c.732G>A (p.Trp244Ter)

SNV
Germline

Chr3:50342538

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA352940234

rs_1161101663

1 SubmittersRCV003654094

NM_001369.3(DNAH5):c.798+1G>A

SNV
Germline

Chr5:13920479

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359220043

rs_1247757066

1 SubmittersRCV003649867

NM_001277115.2(DNAH11):c.10332+1G>A

SNV
Germline

Chr7:21808050

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366946689

rs_1789350322

1 SubmittersRCV003654108

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_001206927.2(DNAH8):c.4906G>T (p.Glu1636Ter)

SNV
Germline

Chr6:38845634

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA364006581

rs_1775234077

1 SubmittersRCV003649861

NM_001369.3(DNAH5):c.2744-2A>T

SNV
Germline

Chr5:13885230

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3204489

rs_780757700

1 SubmittersRCV003649984

NM_152732.5(RSPH9):c.1A>T (p.Met1Leu)

SNV
Germline

Chr6:43645099

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3828186

rs_775745422

1 SubmittersRCV003650026

NM_001277115.2(DNAH11):c.13313G>A (p.Trp4438Ter)

SNV
Germline

Chr7:21901016

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366956515

rs_1784790339

1 SubmittersRCV003650137

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_001277115.2(DNAH11):c.9166A>G (p.Ser3056Gly)

SNV
Germline

Chr7:21773829

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA155081112

rs_924923201

2 SubmittersRCV003650148

NM_001034853.2(RPGR):c.2692G>T (p.Glu898Ter)

SNV
Germline

ChrX:38286307

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412730015

rs_1469760018

1 SubmittersRCV003650202

NM_001277115.2(DNAH11):c.2354T>C (p.Ile785Thr)

SNV
Germline

Chr7:21591264

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA4179316

rs_749673513

3 SubmittersRCV003650203 RCV004738774

NM_012144.4(DNAI1):c.193G>T (p.Glu65Ter)

SNV
Germline

Chr9:34485449

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA192626861

rs_1023413642

1 SubmittersRCV003649924

NM_012144.4(DNAI1):c.1653C>G (p.Tyr551Ter)

SNV
Germline

Chr9:34514477

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Kartagener syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA373263549

rs_1294734737

2 SubmittersRCV003649925 RCV005047799

NM_001034853.2(RPGR):c.2752G>T (p.Glu918Ter)

SNV
Germline

ChrX:38286247

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412729864

rs_2519787370

1 SubmittersRCV003649933

NM_145045.5(ODAD3):c.874C>T (p.Arg292Ter)

SNV
Germline

Chr19:11426233

Pathogenic

Primary ciliary dyskinesia 30

Criteria Provided
Single Submitter

CA404123135

rs_1308843878

1 SubmittersRCV003748659

NM_001277115.2(DNAH11):c.10333-1G>C

SNV
Germline

Chr7:21816466

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA4182337

rs_769279343

1 SubmittersRCV003650013

NM_001277115.2(DNAH11):c.8525G>A (p.Arg2842Gln)

SNV
Germline

Chr7:21748594

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA4181636

rs_778407227

1 SubmittersRCV003650063

NM_001277115.2(DNAH11):c.4581C>G (p.Asn1527Lys)

SNV
Germline

Chr7:21635951

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180103

rs_766093573

2 SubmittersRCV003650120

NM_001277115.2(DNAH11):c.11442C>G (p.His3814Gln)

SNV
Germline

Chr7:21864603

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182749

rs_370056975

2 SubmittersRCV003650136

NM_001277115.2(DNAH11):c.4096-2A>G

SNV
Germline

Chr7:21617617

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366951963

rs_1369201943

1 SubmittersRCV003650196

NM_001277115.2(DNAH11):c.9265C>T (p.Gln3089Ter)

SNV
Germline

Chr7:21773928

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366936694

rs_1277063931

1 SubmittersRCV003650230

NM_001277115.2(DNAH11):c.9766A>G (p.Ile3256Val)

SNV
Germline

Chr7:21787425

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366941256

rs_1188195580

2 SubmittersRCV003650285

NM_001277115.2(DNAH11):c.8798-2A>G

SNV
Germline

Chr7:21750220

Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA366955948

rs_2535136966

2 SubmittersRCV003650286 RCV005047814

NM_001369.3(DNAH5):c.250T>C (p.Tyr84His)

SNV
Germline

Chr5:13928121

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA359226959

rs_1159823492

2 SubmittersRCV003649965

NM_001277115.2(DNAH11):c.4132G>A (p.Asp1378Asn)

SNV
Germline

Chr7:21617655

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179914

rs_752199848

2 SubmittersRCV003650151

NM_001277115.2(DNAH11):c.3959G>A (p.Arg1320His)

SNV
Germline

Chr7:21615220

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366951248

rs_1173183119

2 SubmittersRCV003650255

NM_001277115.2(DNAH11):c.7811+1G>C

SNV
Germline

Chr7:21738867

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366950737

rs_1306120659

1 SubmittersRCV003650297

NM_001277115.2(DNAH11):c.2053C>T (p.Arg685Cys)

SNV
Germline

Chr7:21589287

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179205

rs_754405810

2 SubmittersRCV003651368

NM_001277115.2(DNAH11):c.1313G>C (p.Arg438Thr)

SNV
Germline

Chr7:21570187

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366934831

rs_1246017758

2 SubmittersRCV003651622

NM_001369.3(DNAH5):c.10363C>G (p.Gln3455Glu)

SNV
Germline

Chr5:13758902

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA359195529

rs_1433859526

2 SubmittersRCV003651325

NM_001277115.2(DNAH11):c.10691+1G>T

SNV
Germline

Chr7:21818340

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA366950120

rs_1789901930

2 SubmittersRCV003651327 RCV005047816

NM_001206927.2(DNAH8):c.8278C>T (p.Arg2760Ter)

SNV
Germline

Chr6:38886809

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3790155

rs_776257226

1 SubmittersRCV003651357

NM_001277115.2(DNAH11):c.12970C>T (p.Gln4324Ter)

SNV
Germline

Chr7:21894920

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA4183236

rs_769756688

2 SubmittersRCV003651463 RCV005254867

NM_001277115.2(DNAH11):c.1913C>A (p.Ala638Asp)

SNV
Germline

Chr7:21588576

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179152

rs_765276365

2 SubmittersRCV003651601

NM_001034853.2(RPGR):c.1693C>T (p.Gln565Ter)

SNV
Germline

ChrX:38287921

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412736970

rs_757501405

1 SubmittersRCV003651663

NM_001277115.2(DNAH11):c.2491C>G (p.Gln831Glu)

SNV
Germline

Chr7:21591401

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
DNAH11-related disorder

Criteria Provided
Conflicting Classifications

CA4179353

rs_753129819

3 SubmittersRCV003651708 RCV004736647

NM_001277115.2(DNAH11):c.2498A>C (p.Asn833Thr)

SNV
Germline

Chr7:21591408

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179355

rs_778255538

2 SubmittersRCV003651717

NM_012144.4(DNAI1):c.634C>T (p.Gln212Ter)

SNV
Germline

Chr9:34491507

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373248588

rs_2492038105

1 SubmittersRCV003651578

NM_001369.3(DNAH5):c.6307T>C (p.Ser2103Pro)

SNV
Germline

Chr5:13829647

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Conflicting Classifications

CA3203431

rs_777013412

2 SubmittersRCV003651646 RCV004577045

NM_001206927.2(DNAH8):c.2901+1G>A

SNV
Germline

Chr6:38791675

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA363991580

rs_1769760726

1 SubmittersRCV003651704

NM_001369.3(DNAH5):c.10616G>C (p.Arg3539Pro)

SNV
Germline

Chr5:13753489

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359192142

rs_769458738

1 SubmittersRCV003651339

NM_001277115.2(DNAH11):c.25G>T (p.Glu9Ter)

SNV
Germline

Chr7:21543270

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA4178608

rs_753645186

1 SubmittersRCV003651487

NM_001369.3(DNAH5):c.1593G>A (p.Met531Ile)

SNV
Germline

Chr5:13911437

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA359211932

rs_1216204013

2 SubmittersRCV003651494

NM_001277115.2(DNAH11):c.2855C>T (p.Pro952Leu)

SNV
Germline

Chr7:21599974

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366944561

rs_1279849861

2 SubmittersRCV003651495

NM_017950.4(CCDC40):c.677-1G>T

SNV
Germline

Chr17:80048582

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA401353433

rs_2510289229

1 SubmittersRCV003651554

NM_001369.3(DNAH5):c.2440G>T (p.Glu814Ter)

SNV
Germline

Chr5:13891113

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359199899

rs_2547057694

1 SubmittersRCV003651560

NM_001277115.2(DNAH11):c.6652C>T (p.His2218Tyr)

SNV
Germline

Chr7:21707804

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4180917

rs_757932794

2 SubmittersRCV003651684 RCV005433452

NM_001277115.2(DNAH11):c.2614A>G (p.Lys872Glu)

SNV
Germline

Chr7:21591524

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366943076

rs_1211920866

2 SubmittersRCV003651778

NM_001277115.2(DNAH11):c.3853-2A>G

SNV
Germline

Chr7:21615112

Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA4179809

rs_750640740

2 SubmittersRCV003651783 RCV005254869

NM_001277115.2(DNAH11):c.9250C>G (p.Leu3084Val)

SNV
Germline

Chr7:21773913

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181908

rs_566490774

2 SubmittersRCV003652828

NM_001277115.2(DNAH11):c.6988G>A (p.Val2330Met)

SNV
Germline

Chr7:21717779

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4181085

rs_766617896

2 SubmittersRCV003652834 RCV005429454

NM_001277115.2(DNAH11):c.4624A>G (p.Thr1542Ala)

SNV
Germline

Chr7:21635994

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180113

rs_749457758

2 SubmittersRCV003652914

NM_001277115.2(DNAH11):c.4876C>G (p.Pro1626Ala)

SNV
Germline

Chr7:21638997

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180205

rs_372273069

2 SubmittersRCV003653072

NM_001034853.2(RPGR):c.815G>T (p.Gly272Val)

SNV
Germline

ChrX:38304754

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412741625

rs_2519847298

1 SubmittersRCV003651762

NM_001034853.2(RPGR):c.739C>T (p.Gln247Ter)

SNV
Germline

ChrX:38310654

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412742616

rs_2519865708

1 SubmittersRCV003651763

NM_001277115.2(DNAH11):c.9095G>A (p.Gly3032Glu)

SNV
Germline

Chr7:21765582

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366935693

rs_1490098860

2 SubmittersRCV003651772

NM_001277115.2(DNAH11):c.8459A>G (p.Glu2820Gly)

SNV
Germline

Chr7:21745012

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4181594

rs_772267453

2 SubmittersRCV003652799 RCV005037019

NM_001277115.2(DNAH11):c.6793A>T (p.Met2265Leu)

SNV
Germline

Chr7:21710662

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366940705

rs_368383022

2 SubmittersRCV003653128

NM_001277115.2(DNAH11):c.7847A>G (p.His2616Arg)

SNV
Germline

Chr7:21739606

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181379

rs_750580632

2 SubmittersRCV003651743

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_001369.3(DNAH5):c.6261T>G (p.Tyr2087Ter)

SNV
Germline

Chr5:13829693

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359200474

rs_1335539930

1 SubmittersRCV003652868

NM_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_001277115.2(DNAH11):c.2252A>G (p.Lys751Arg)

SNV
Germline

Chr7:21591000

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179276

rs_377077037

2 SubmittersRCV003651794

NM_001369.3(DNAH5):c.1717A>C (p.Lys573Gln)

SNV
Germline

Chr5:13902066

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204762

rs_776722304

2 SubmittersRCV003652937

NM_001277115.2(DNAH11):c.9436G>C (p.Glu3146Gln)

SNV
Germline

Chr7:21779057

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 7
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181962

rs_762421117

3 SubmittersRCV003615816 RCV005063160

NM_145045.5(ODAD3):c.694C>T (p.Gln232Ter)

SNV
Germline

Chr19:11426703

Likely pathogenic

Primary ciliary dyskinesia 30

Criteria Provided
Single Submitter

CA404124178

rs_2512482311

1 SubmittersRCV003749799

NM_003611.3(OFD1):c.1190A>G (p.Asn397Ser)

SNV
Germline

ChrX:13755211

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351776

rs_755523044

2 SubmittersRCV003787160 RCV004823210

NM_001010892.3(RSPH4A):c.1852C>T (p.Gln618Ter)

SNV
Germline

Chr6:116630488

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA365410085

rs_2482810190

1 SubmittersRCV003815902

NM_001256715.2(DNAAF3):c.1377A>C (p.Glu459Asp)

SNV
Germline

Chr19:55159311

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA407446555

rs_372161739

2 SubmittersRCV003814572

NM_001277115.2(DNAH11):c.1159T>G (p.Leu387Val)

SNV
Germline

Chr7:21564362

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178914

rs_778901546

2 SubmittersRCV003823235

NM_001277115.2(DNAH11):c.11105G>A (p.Arg3702Gln)

SNV
Germline

Chr7:21854358

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182619

rs_774855826

2 SubmittersRCV003828129

NM_001277115.2(DNAH11):c.5192A>T (p.Glu1731Val)

SNV
Germline

Chr7:21658895

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7
not specified

Criteria Provided
Conflicting Classifications

CA366939760

rs_1401504319

3 SubmittersRCV003828544 RCV005254881 RCV005419717

NM_031427.4(DNAL1):c.296G>A (p.Trp99Ter)

SNV
Germline

Chr14:73687290

Pathogenic

Primary ciliary dyskinesia 16

Criteria Provided
Single Submitter

CA390332154

rs_1252878067

1 SubmittersRCV003811001

NM_001277115.2(DNAH11):c.6499C>T (p.Arg2167Trp)

SNV
Germline

Chr7:21705490

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180845

rs_750245529

2 SubmittersRCV003819208

NM_001277115.2(DNAH11):c.728T>C (p.Ile243Thr)

SNV
Germline

Chr7:21559638

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178770

rs_750214113

2 SubmittersRCV003817374

NM_001369.3(DNAH5):c.4106T>C (p.Ile1369Thr)

SNV
Germline

Chr5:13866230

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA359226156

rs_1364768386

2 SubmittersRCV003817597

NM_001277115.2(DNAH11):c.8940+1G>A

SNV
Germline

Chr7:21750365

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366956491

rs_2535137725

1 SubmittersRCV003820538

NM_001277115.2(DNAH11):c.4532A>T (p.Tyr1511Phe)

SNV
Germline

Chr7:21635902

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180088

rs_565283604

2 SubmittersRCV003816930

NM_001277115.2(DNAH11):c.1078T>A (p.Leu360Ile)

SNV
Germline

Chr7:21564281

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA155056265

rs_777435555

2 SubmittersRCV003824970

NM_001277115.2(DNAH11):c.7337A>G (p.Gln2446Arg)

SNV
Germline

Chr7:21725881

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181196

rs_756225547

2 SubmittersRCV003825352

NM_001369.3(DNAH5):c.12205G>T (p.Glu4069Ter)

SNV
Germline

Chr5:13721074

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359213715

rs_2546525282

1 SubmittersRCV003822050

NM_001369.3(DNAH5):c.1047T>A (p.Tyr349Ter)

SNV
Germline

Chr5:13917185

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359217784

rs_1776735394

1 SubmittersRCV003822072

NM_001369.3(DNAH5):c.4936A>T (p.Lys1646Ter)

SNV
Germline

Chr5:13859466

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359219439

rs_775506164

1 SubmittersRCV003827637

NM_001369.3(DNAH5):c.3514C>T (p.Gln1172Ter)

SNV
Germline

Chr5:13871648

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359232971

rs_141168110

1 SubmittersRCV003827638

NM_001206927.2(DNAH8):c.3184C>T (p.Gln1062Ter)

SNV
Germline

Chr6:38807643

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA363996468

rs_1771404948

1 SubmittersRCV003838907

NM_001277115.2(DNAH11):c.3772C>T (p.Gln1258Ter)

SNV
Germline

Chr7:21606653

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366948324

rs_980444912

1 SubmittersRCV003827081

NM_001369.3(DNAH5):c.9286C>T (p.Arg3096Ter)

SNV
Germline

Chr5:13776526

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA113937662

rs_868444911

1 SubmittersRCV003830234

NM_001277115.2(DNAH11):c.6620C>T (p.Ala2207Val)

SNV
Germline

Chr7:21707772

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180912

rs_758080566

2 SubmittersRCV003834897

NM_001277115.2(DNAH11):c.10616T>G (p.Leu3539Ter)

SNV
Germline

Chr7:21818264

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366949957

rs_2535362460

1 SubmittersRCV003835156

NM_001277115.2(DNAH11):c.7507G>T (p.Gly2503Ter)

SNV
Germline

Chr7:21735706

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366948501

rs_1785577120

1 SubmittersRCV003840144

NM_012144.4(DNAI1):c.901+1G>A

SNV
Germline

Chr9:34497200

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373251397

rs_908149058

1 SubmittersRCV003834352

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_001369.3(DNAH5):c.7469G>A (p.Trp2490Ter)

SNV
Germline

Chr5:13810199

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359232202

rs_2546806644

1 SubmittersRCV003842889

NM_012144.4(DNAI1):c.1063+2T>C

SNV
Germline

Chr9:34501183

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA373254191

rs_2492075310

1 SubmittersRCV003830076

NM_031924.8(RSPH3):c.859+1G>T

SNV
Germline

Chr6:158980773

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia 32

Criteria Provided
Multiple Submitters
No Conflicts

CA4075797

rs_758891825

2 SubmittersRCV003839700

NM_001010892.3(RSPH4A):c.1873C>T (p.Gln625Ter)

SNV
Germline

Chr6:116630509

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA365410253

rs_377489011

1 SubmittersRCV003853011

NM_001277115.2(DNAH11):c.958G>A (p.Asp320Asn)

SNV
Germline

Chr7:21561146

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178831

rs_376353940

2 SubmittersRCV003851094

NM_001369.3(DNAH5):c.9575A>G (p.Lys3192Arg)

SNV
Germline

Chr5:13770779

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3202512

rs_771825187

2 SubmittersRCV003845464

NM_178452.6(DNAAF1):c.741+2T>G

SNV
Germline

Chr16:84155751

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA396944024

rs_2087395615

1 SubmittersRCV003841946

NM_018076.5(ODAD2):c.316C>T (p.Gln106Ter)

SNV
Germline

Chr10:27987452

Pathogenic

Primary ciliary dyskinesia 23

Criteria Provided
Single Submitter

CA376397609

rs_1436932284

1 SubmittersRCV003842570

NM_001277115.2(DNAH11):c.3648+2T>C

SNV
Germline

Chr7:21601620

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366947451

rs_1785094598

1 SubmittersRCV003842917

NM_017950.4(CCDC40):c.712G>T (p.Glu238Ter)

SNV
Germline

Chr17:80048618

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA401353656

rs_1051138932

1 SubmittersRCV003843031

NM_001010892.3(RSPH4A):c.1082G>A (p.Gly361Asp)

SNV
Germline

Chr6:116627789

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3970893

rs_757303224

1 SubmittersRCV003843696

NM_145045.5(ODAD3):c.244+5G>T

SNV
Germline

Chr19:11434768

Likely pathogenic

Primary ciliary dyskinesia 30

Criteria Provided
Single Submitter

CA2740091879

rs_2512493638

1 SubmittersRCV003849916

NM_001277115.2(DNAH11):c.1589A>T (p.Asn530Ile)

SNV
Germline

Chr7:21571969

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179027

rs_770674615

2 SubmittersRCV003857690

NM_001277115.2(DNAH11):c.10138A>G (p.Asn3380Asp)

SNV
Germline

Chr7:21801248

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182243

rs_766787311

2 SubmittersRCV003858210

NM_001277115.2(DNAH11):c.12213C>A (p.Cys4071Ter)

SNV
Germline

Chr7:21880719

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366963876

rs_1424739250

1 SubmittersRCV003840838

NM_001277115.2(DNAH11):c.10746C>G (p.Ile3582Met)

SNV
Germline

Chr7:21842598

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366956700

rs_1180673603

2 SubmittersRCV003853589

NM_001277115.2(DNAH11):c.7820G>A (p.Arg2607Lys)

SNV
Germline

Chr7:21739579

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181374

rs_376929592

2 SubmittersRCV003863828

NM_001369.3(DNAH5):c.870G>A (p.Trp290Ter)

SNV
Germline

Chr5:13919281

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA113963651

rs_916132038

1 SubmittersRCV003858850

NM_001277115.2(DNAH11):c.4944+2T>C

SNV
Germline

Chr7:21639067

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366934968

rs_2534781889

1 SubmittersRCV003857359

NM_012472.6(DNAAF11):c.654-1G>T

SNV
Germline

Chr8:132625455

Likely pathogenic

Primary ciliary dyskinesia 19

Criteria Provided
Single Submitter

CA4881325

rs_756153007

1 SubmittersRCV003868011

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_001277115.2(DNAH11):c.7696G>A (p.Gly2566Arg)

SNV
Germline

Chr7:21738751

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366950239

rs_1399609437

2 SubmittersRCV003868306

NM_001277115.2(DNAH11):c.1750G>A (p.Val584Ile)

SNV
Germline

Chr7:21588103

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179092

rs_371748491

2 SubmittersRCV003866985

NM_001034853.2(RPGR):c.1129T>C (p.Phe377Leu)

SNV
Germline

ChrX:38299072

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10385535

rs_758542643

2 SubmittersRCV003854035 RCV005235736

NM_001369.3(DNAH5):c.12827T>C (p.Met4276Thr)

SNV
Germline

Chr5:13716569

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3201523

rs_749125278

2 SubmittersRCV003852031 RCV004790632

NM_001277115.2(DNAH11):c.8060T>C (p.Ile2687Thr)

SNV
Germline

Chr7:21742072

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181450

rs_564514095

2 SubmittersRCV003865933

NM_001369.3(DNAH5):c.10420-2A>G

SNV
Germline

Chr5:13754340

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359194369

rs_2546618928

1 SubmittersRCV003866034

NM_001277115.2(DNAH11):c.3697A>G (p.Arg1233Gly)

SNV
Germline

Chr7:21606474

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179713

rs_757895588

2 SubmittersRCV003866160

NM_001277115.2(DNAH11):c.1113C>G (p.Ile371Met)

SNV
Germline

Chr7:21564316

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

CA4178902

rs_764398699

2 SubmittersRCV003864397 RCV005254887

NM_001277115.2(DNAH11):c.4658C>G (p.Ser1553Ter)

SNV
Germline

Chr7:21636028

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA366933489

rs_1786848141

2 SubmittersRCV003875608 RCV005038603

NM_001277115.2(DNAH11):c.4708G>A (p.Val1570Met)

SNV
Germline

Chr7:21636078

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180130

rs_754155714

2 SubmittersRCV003877697

NM_001277115.2(DNAH11):c.7438C>T (p.Gln2480Ter)

SNV
Germline

Chr7:21725982

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366946165

rs_2535043136

1 SubmittersRCV003875878

NM_017950.4(CCDC40):c.3224T>C (p.Leu1075Pro)

SNV
Germline

Chr17:80099570

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA401357386

rs_2510328737

1 SubmittersRCV003874888

NM_001369.3(DNAH5):c.10229C>T (p.Thr3410Met)

SNV
Germline

Chr5:13762774

Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA3202306

rs_186180802

2 SubmittersRCV003873295 RCV005038606

NM_001010892.3(RSPH4A):c.921+2T>C

SNV
Germline

Chr6:116623004

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA365400876

rs_1406268554

1 SubmittersRCV003873345

NM_001277115.2(DNAH11):c.5779-1G>C

SNV
Germline

Chr7:21687381

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366949542

rs_2534917103

1 SubmittersRCV003874214

NM_001369.3(DNAH5):c.1256C>A (p.Ser419Tyr)

SNV
Germline

Chr5:13914584

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA3204900

rs_150010518

2 SubmittersRCV003879601

NM_001369.3(DNAH5):c.3784G>T (p.Glu1262Ter)

SNV
Germline

Chr5:13870817

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA359231506

rs_1470329012

1 SubmittersRCV003871743

NM_001206927.2(DNAH8):c.8761G>T (p.Glu2921Ter)

SNV
Germline

Chr6:38896046

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA3790309

rs_369304378

1 SubmittersRCV003872247

NM_017950.4(CCDC40):c.3100C>T (p.Gln1034Ter)

SNV
Germline

Chr17:80097323

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA401356680

rs_367614851

1 SubmittersRCV003870381

NM_001277115.2(DNAH11):c.7351G>A (p.Asp2451Asn)

SNV
Germline

Chr7:21725895

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA155095650

rs_998505687

2 SubmittersRCV003873202

NM_001277115.2(DNAH11):c.10673A>G (p.Asn3558Ser)

SNV
Germline

Chr7:21818321

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4182433

rs_752231547

2 SubmittersRCV003870677

NM_001277115.2(DNAH11):c.2968A>C (p.Ile990Leu)

SNV
Germline

Chr7:21600087

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366944805

rs_1236592830

2 SubmittersRCV003870883

NM_001277115.2(DNAH11):c.5919G>T (p.Lys1973Asn)

SNV
Germline

Chr7:21687522

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA366949864

rs_1327756504

2 SubmittersRCV003879324

NM_001277115.2(DNAH11):c.2075G>A (p.Ser692Asn)

SNV
Germline

Chr7:21589309

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179212

rs_528619219

2 SubmittersRCV003877444

NM_001277115.2(DNAH11):c.4450C>G (p.Pro1484Ala)

SNV
Germline

Chr7:21620028

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA155110232

rs_769397725

2 SubmittersRCV003878203

NM_001277115.2(DNAH11):c.7144G>A (p.Val2382Ile)

SNV
Germline

Chr7:21720734

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4181136

rs_756010097

2 SubmittersRCV003878358

NM_001277115.2(DNAH11):c.6119G>A (p.Arg2040His)

SNV
Germline

Chr7:21698152

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4180693

rs_751779702

2 SubmittersRCV003878422

NM_001277115.2(DNAH11):c.2714A>C (p.Lys905Thr)

SNV
Germline

Chr7:21599833

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4179413

rs_778362196

2 SubmittersRCV003878686

NM_001277115.2(DNAH11):c.693-2A>G

SNV
Germline

Chr7:21559601

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA366932683

rs_1562660214

1 SubmittersRCV003875063

NM_001034853.2(RPGR):c.16G>T (p.Glu6Ter)

SNV
Germline

ChrX:38327352

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

CA412746904

rs_1199553512

1 SubmittersRCV003880319

NM_001270974.2(HYDIN):c.1670G>C (p.Arg557Thr)

SNV
Germline

Chr16:71088301

Likely pathogenic

Primary ciliary dyskinesia 5

Criteria Provided
Single Submitter

CA396621873

rs_2507402547

1 SubmittersRCV003886334

NM_001270974.2(HYDIN):c.10012G>T (p.Glu3338Ter)

SNV
Germline

Chr16:70882863

Pathogenic

Primary ciliary dyskinesia 5

Criteria Provided
Single Submitter

CA396600844

rs_2506960798

1 SubmittersRCV003886335

NM_001270974.2(HYDIN):c.283C>T (p.Gln95Ter)

SNV
Germline

Chr16:71179026

Likely pathogenic

Primary ciliary dyskinesia 5

Criteria Provided
Single Submitter

CA396845328

rs_2507633880

1 SubmittersRCV003886336

NM_001270974.2(HYDIN):c.1147C>T (p.Arg383Ter)

SNV
Germline

Chr16:71129720

Pathogenic

Primary ciliary dyskinesia 5

Criteria Provided
Single Submitter

CA396633182

rs_543553606

1 SubmittersRCV003886344

NM_001270974.2(HYDIN):c.4888A>T (p.Lys1630Ter)

SNV
Germline

Chr16:70974555

Pathogenic

Primary ciliary dyskinesia 5

Criteria Provided
Single Submitter

CA396627265

rs_1277968524

1 SubmittersRCV003886345

NM_001270974.2(HYDIN):c.6669+1G>A

SNV
Germline

Chr16:70943811

Likely pathogenic

Primary ciliary dyskinesia 5

Criteria Provided
Single Submitter

CA8150212

rs_373719742

1 SubmittersRCV003886351

NM_001270974.2(HYDIN):c.14157T>G (p.Tyr4719Ter)

SNV
Germline

Chr16:70828385

Likely pathogenic

Primary ciliary dyskinesia 5

Criteria Provided
Single Submitter

CA396591981

rs_2507871693

1 SubmittersRCV003886355

NM_001034853.2(RPGR):c.2427G>A (p.Glu809=)

SNV
Germline

ChrX:38286572

Conflicting classifications of pathogenicity

Retinal dystrophy
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10385286

rs_774543262

2 SubmittersRCV003890443 RCV005101491

NM_001369.3(DNAH5):c.5115G>T (p.Gly1705=)

SNV
Germline

Chr5:13844993

Conflicting classifications of pathogenicity

DNAH5-related disorder
Primary ciliary dyskinesia

No Assertion Criteria Provided

CA443258363

rs_768906272

2 SubmittersRCV003964325 RCV005618331

NM_001277115.2(DNAH11):c.11615G>A (p.Trp3872Ter)

SNV
Germline

Chr7:21866588

Likely pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

CA366962086

rs_754491866

1 SubmittersRCV003985967

NM_145045.5(ODAD3):c.244+1G>A

SNV
Germline

Chr19:11434772

Likely pathogenic

Primary ciliary dyskinesia 30

Criteria Provided
Single Submitter

CA404128074

rs_937290981

1 SubmittersRCV003988669

NM_145045.5(ODAD3):c.787G>T (p.Glu263Ter)

SNV
Germline

Chr19:11426499

Likely pathogenic

Primary ciliary dyskinesia 30

Criteria Provided
Single Submitter

CA404123551

rs_757046319

1 SubmittersRCV003988678

NM_153614.4(DNAJB13):c.493-1G>A

SNV
Germline

Chr11:73966137

Likely pathogenic

Primary ciliary dyskinesia 34

Criteria Provided
Single Submitter

CA381807523

rs_2495966748

1 SubmittersRCV003989904

NM_018076.5(ODAD2):c.1743+1G>C

SNV
Germline

Chr10:27944221

Likely pathogenic

Primary ciliary dyskinesia 23

Criteria Provided
Single Submitter

CA376392848

rs_2493662614

1 SubmittersRCV003989229

NM_001277115.2(DNAH11):c.11986A>T (p.Lys3996Ter)

SNV
Germline

Chr7:21873292

Likely pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

CA366962968

rs_2534055729

1 SubmittersRCV003990673

NM_001369.3(DNAH5):c.1320+1G>A

SNV
Germline

Chr5:13914519

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

CA359214711

rs_2547129342

1 SubmittersRCV003993509

NM_001270974.2(HYDIN):c.487C>T (p.Arg163Ter)

SNV
Germline

Chr16:71175636

Likely pathogenic

Primary ciliary dyskinesia 5

Criteria Provided
Single Submitter

CA396844862

rs_2507623414

1 SubmittersRCV003993520

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_001270974.2(HYDIN):c.9418-2A>G

SNV
Germline

Chr16:70891886

Likely pathogenic

Primary ciliary dyskinesia 5

Criteria Provided
Single Submitter

CA396604823

rs_2506980081

1 SubmittersRCV003991726

NM_001277115.2(DNAH11):c.637C>T (p.Pro213Ser)

SNV
Germline

Chr7:21558943

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA4178728

rs_753456838

2 SubmittersRCV004508341

NM_001277115.2(DNAH11):c.2956C>T (p.Gln986Ter)

SNV
Germline

Chr7:21600075

Likely pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

CA4179474

rs_767496764

1 SubmittersRCV004547280

NM_017950.4(CCDC40):c.2476C>T (p.Gln826Ter)

SNV
Germline

Chr17:80087633

Likely pathogenic

Primary ciliary dyskinesia 15

Criteria Provided
Single Submitter

CA401348341

rs_1188440303

1 SubmittersRCV004547381

NM_145045.5(ODAD3):c.405G>A (p.Trp135Ter)

SNV
Germline

Chr19:11430738

Likely pathogenic

Primary ciliary dyskinesia 30

Criteria Provided
Single Submitter

rs_1969484928

1 SubmittersRCV004577196

NM_001270974.2(HYDIN):c.6358C>T (p.Arg2120Ter)

SNV
Germline

Chr16:70952594

Likely pathogenic

Primary ciliary dyskinesia 5

Criteria Provided
Single Submitter

rs_1597399325

1 SubmittersRCV004577259

NM_001364171.2(ODAD1):c.1246C>T (p.Gln416Ter)

SNV
Germline

Chr19:48298335

Pathogenic

Primary ciliary dyskinesia 20

Criteria Provided
Single Submitter

rs_1303454567

1 SubmittersRCV004584273

NM_001034853.2(RPGR):c.2467A>T (p.Lys823Ter)

SNV
Germline

ChrX:38286532

Pathogenic

Retinal dystrophy
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004818678 RCV005101937

NM_001034853.2(RPGR):c.28+1G>T

SNV
Germline

ChrX:38327339

Pathogenic

Primary ciliary dyskinesia
Retinal dystrophy

Criteria Provided
Single Submitter

2 SubmittersRCV005101957 RCV004817341

NM_001277115.2(DNAH11):c.10286G>T (p.Arg3429Leu)

SNV
Germline

Chr7:21808003

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004609027

NM_001270974.2(HYDIN):c.12721C>T (p.Gln4241Ter)

SNV
Germline

Chr16:70849878

Likely pathogenic

Primary ciliary dyskinesia 5

Criteria Provided
Single Submitter

1 SubmittersRCV004691656

NM_145045.5(ODAD3):c.281G>A (p.Trp94Ter)

SNV
Germline

Chr19:11430984

Likely pathogenic

Primary ciliary dyskinesia 30

Criteria Provided
Single Submitter

1 SubmittersRCV004764319

NM_017950.4(CCDC40):c.2026C>T (p.Gln676Ter)

SNV
Germline

Chr17:80084779

Likely pathogenic

Primary ciliary dyskinesia 15

Criteria Provided
Single Submitter

1 SubmittersRCV004764710

NM_033124.5(CCDC65):c.876T>G (p.Tyr292Ter)

SNV
Germline

Chr12:48918753

Likely pathogenic

Primary ciliary dyskinesia 27

Criteria Provided
Single Submitter

1 SubmittersRCV004771653

NM_145038.5(DRC1):c.1196G>A (p.Trp399Ter)

SNV
Germline

Chr2:26444748

Likely pathogenic

Primary ciliary dyskinesia 21

Criteria Provided
Single Submitter

1 SubmittersRCV004771759

NM_001277115.2(DNAH11):c.11662C>T (p.Arg3888Cys)

SNV
Germline

Chr7:21866635

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004794887 RCV005254959

NM_012144.4(DNAI1):c.1719-1G>A

SNV
Germline

Chr9:34514639

Pathogenic

Condition: not provided
Primary ciliary dyskinesia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004794902 RCV005061440

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_001010892.3(RSPH4A):c.1213G>T (p.Glu405Ter)

SNV
Germline

Chr6:116627920

Likely pathogenic

Primary ciliary dyskinesia 11

Criteria Provided
Single Submitter

1 SubmittersRCV004795576

NM_001369.3(DNAH5):c.4985G>A (p.Trp1662Ter)

SNV
Germline

Chr5:13850781

Pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

1 SubmittersRCV004795694

NM_012472.6(DNAAF11):c.183T>G (p.Asn61Lys)

SNV
Germline

Chr8:132656903

Likely pathogenic

Primary ciliary dyskinesia 19

Criteria Provided
Single Submitter

1 SubmittersRCV004795820

NM_012472.6(DNAAF11):c.179-1G>A

SNV
Germline

Chr8:132656908

Pathogenic

Primary ciliary dyskinesia 19

Criteria Provided
Single Submitter

1 SubmittersRCV004795821

NM_001364171.2(ODAD1):c.71-2A>C

SNV
Germline

Chr19:48318814

Pathogenic

Primary ciliary dyskinesia 20

Criteria Provided
Single Submitter

1 SubmittersRCV004796483

NM_017950.4(CCDC40):c.3058G>T (p.Glu1020Ter)

SNV
Germline

Chr17:80097281

Likely pathogenic

Primary ciliary dyskinesia 15

Criteria Provided
Single Submitter

1 SubmittersRCV004796587

NM_001010892.3(RSPH4A):c.1108G>T (p.Glu370Ter)

SNV
Germline

Chr6:116627815

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV004799131

NM_001270974.2(HYDIN):c.12444-3C>G

SNV
Germline

Chr16:70850658

Likely pathogenic

Primary ciliary dyskinesia 5

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004801962

NM_001270974.2(HYDIN):c.10426C>T (p.Arg3476Ter)

SNV
Germline

Chr16:70879428

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 5

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004821141

NM_001270974.2(HYDIN):c.1446+1G>A

SNV
Germline

Chr16:71093816

Likely pathogenic

Primary ciliary dyskinesia 5

Criteria Provided
Single Submitter

1 SubmittersRCV004821144

NM_003611.3(OFD1):c.1370A>T (p.Gln457Leu)

SNV
Germline

ChrX:13756726

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004821552 RCV005218359

NM_001277115.2(DNAH11):c.1862A>G (p.His621Arg)

SNV
Germline

Chr7:21588525

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004822781

NM_001256715.2(DNAAF3):c.24C>T (p.Gly8=)

SNV
Germline

Chr19:55166390

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 2
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005028706 RCV005112719

NM_031427.4(DNAL1):c.151G>T (p.Glu51Ter)

SNV
Germline

Chr14:73658955

Likely pathogenic

Primary ciliary dyskinesia 16

Criteria Provided
Single Submitter

1 SubmittersRCV005005684

NM_031427.4(DNAL1):c.490G>T (p.Glu164Ter)

SNV
Germline

Chr14:73689473

Likely pathogenic

Primary ciliary dyskinesia 16

Criteria Provided
Single Submitter

1 SubmittersRCV005007244

NM_023036.6(DNAI2):c.1215C>A (p.Tyr405Ter)

SNV
Germline

Chr17:74309256

Likely pathogenic

Primary ciliary dyskinesia 9

Criteria Provided
Single Submitter

1 SubmittersRCV005022616

NM_023036.6(DNAI2):c.1723-1G>A

SNV
Germline

Chr17:74314120

Likely pathogenic

Primary ciliary dyskinesia 9

Criteria Provided
Single Submitter

1 SubmittersRCV005026034

NM_080860.4(RSPH1):c.274+19G>A

SNV
Germline

Chr21:42492739

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia 24
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005029170 RCV005112803

NM_001277115.2(DNAH11):c.9952C>T (p.Gln3318Ter)

SNV
Germline

Chr7:21789268

Likely pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

1 SubmittersRCV005033700

NM_001277115.2(DNAH11):c.10569-1G>A

SNV
Germline

Chr7:21818216

Likely pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

1 SubmittersRCV005033701

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_001369.3(DNAH5):c.13141C>T (p.Gln4381Ter)

SNV
Germline

Chr5:13708320

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

1 SubmittersRCV005043153

NM_001369.3(DNAH5):c.13126-1G>C

SNV
Germline

Chr5:13708336

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

1 SubmittersRCV005033313

NM_001369.3(DNAH5):c.11883+1G>A

SNV
Germline

Chr5:13729438

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

1 SubmittersRCV005033316

NM_001369.3(DNAH5):c.10757T>A (p.Leu3586Ter)

SNV
Germline

Chr5:13753348

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

1 SubmittersRCV005033317

NM_001369.3(DNAH5):c.10555+1G>C

SNV
Germline

Chr5:13754202

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

1 SubmittersRCV005043156

NM_001369.3(DNAH5):c.10102-1G>C

SNV
Germline

Chr5:13762902

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

1 SubmittersRCV005043157

NM_001369.3(DNAH5):c.10102-1G>A

SNV
Germline

Chr5:13762902

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

1 SubmittersRCV005033318

NM_001369.3(DNAH5):c.8692G>T (p.Glu2898Ter)

SNV
Germline

Chr5:13786307

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

1 SubmittersRCV005033322

NM_001369.3(DNAH5):c.6842-1G>A

SNV
Germline

Chr5:13817695

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

1 SubmittersRCV005033326

NM_001369.3(DNAH5):c.5271+1G>A

SNV
Germline

Chr5:13844836

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

1 SubmittersRCV005043160

NM_001369.3(DNAH5):c.3721A>T (p.Lys1241Ter)

SNV
Germline

Chr5:13870880

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

1 SubmittersRCV005033334

NM_001369.3(DNAH5):c.3598G>A (p.Ala1200Thr)

SNV
Germline

Chr5:13871564

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

1 SubmittersRCV005033335

NM_001369.3(DNAH5):c.3396+1G>A

SNV
Germline

Chr5:13876683

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

1 SubmittersRCV005033336

NM_001369.3(DNAH5):c.2695G>T (p.Glu899Ter)

SNV
Germline

Chr5:13886012

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

1 SubmittersRCV005043163

NM_001369.3(DNAH5):c.2557G>T (p.Glu853Ter)

SNV
Germline

Chr5:13890996

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

1 SubmittersRCV005033338

NM_001369.3(DNAH5):c.2053-2A>G

SNV
Germline

Chr5:13900414

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

1 SubmittersRCV005033340

NM_001369.3(DNAH5):c.877A>T (p.Arg293Ter)

SNV
Germline

Chr5:13919274

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

1 SubmittersRCV005033343

NM_003611.3(OFD1):c.1559A>G (p.Gln520Arg)

SNV
Germline

ChrX:13758353

Conflicting classifications of pathogenicity

Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005041624 RCV005448058

NM_001010892.3(RSPH4A):c.160C>T (p.Gln54Ter)

SNV
Germline

Chr6:116616783

Pathogenic

Primary ciliary dyskinesia 11

Criteria Provided
Single Submitter

1 SubmittersRCV005052157

NM_001369.3(DNAH5):c.4389G>A (p.Trp1463Ter)

SNV
Germline

Chr5:13864604

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005074159

NM_001206927.2(DNAH8):c.4467-2A>G

SNV
Germline

Chr6:38842366

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005064088

NM_012472.6(DNAAF11):c.1044+1G>A

SNV
Germline

Chr8:132611293

Likely pathogenic

Primary ciliary dyskinesia 19

Criteria Provided
Single Submitter

1 SubmittersRCV005067995

NM_001277115.2(DNAH11):c.5249G>A (p.Trp1750Ter)

SNV
Germline

Chr7:21658952

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005060300

NM_001481.3(GAS8):c.796G>T (p.Glu266Ter)

SNV
Germline

Chr16:90037271

Pathogenic

Primary ciliary dyskinesia 33

Criteria Provided
Single Submitter

1 SubmittersRCV005067101

NM_001277115.2(DNAH11):c.5250G>A (p.Trp1750Ter)

SNV
Germline

Chr7:21658953

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005067407

NM_001206927.2(DNAH8):c.8747+2T>C

SNV
Germline

Chr6:38894866

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005084508

NM_001277115.2(DNAH11):c.13162+1G>C

SNV
Germline

Chr7:21899449

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005081103

NM_001206927.2(DNAH8):c.12876C>A (p.Tyr4292Ter)

SNV
Germline

Chr6:38982387

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005081289

NM_001206927.2(DNAH8):c.2383C>T (p.Gln795Ter)

SNV
Germline

Chr6:38783127

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005086603

NM_001277115.2(DNAH11):c.9597+1G>A

SNV
Germline

Chr7:21784541

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005079550

NM_001010892.3(RSPH4A):c.1662+2T>C

SNV
Germline

Chr6:116628371

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005085640

NM_001206927.2(DNAH8):c.3904C>T (p.Arg1302Ter)

SNV
Germline

Chr6:38826212

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005085960

NM_001277115.2(DNAH11):c.200C>A (p.Ala67Glu)

SNV
Germline

Chr7:21543445

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005085997

NM_001206927.2(DNAH8):c.12838C>T (p.Arg4280Ter)

SNV
Germline

Chr6:38982349

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005086150

NM_015896.4(ZMYND10):c.931C>T (p.Gln311Ter)

SNV
Germline

Chr3:50342083

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia
Primary ciliary dyskinesia 22

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005078832 RCV005358199

NM_033124.5(CCDC65):c.339C>G (p.Tyr113Ter)

SNV
Germline

Chr12:48914442

Pathogenic

Primary ciliary dyskinesia 27

Criteria Provided
Single Submitter

1 SubmittersRCV005076966

NM_015896.4(ZMYND10):c.1046G>A (p.Trp349Ter)

SNV
Germline

Chr3:50341885

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005077006

NM_001277115.2(DNAH11):c.2341G>A (p.Glu781Lys)

SNV
Germline

Chr7:21591251

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005083527 RCV005254988

NM_001369.3(DNAH5):c.6271C>T (p.Gln2091Ter)

SNV
Germline

Chr5:13829683

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005120471

NM_001369.3(DNAH5):c.12542G>A (p.Trp4181Ter)

SNV
Germline

Chr5:13717478

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005120675

NM_003114.5(SPAG1):c.702-1G>A

SNV
Germline

Chr8:100187119

Likely pathogenic

Primary ciliary dyskinesia 28

Criteria Provided
Single Submitter

1 SubmittersRCV005119407

NM_001369.3(DNAH5):c.4146C>A (p.Tyr1382Ter)

SNV
Germline

Chr5:13865877

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005130576

NM_001034853.2(RPGR):c.643G>A (p.Gly215Arg)

SNV
Germline

ChrX:38310750

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005116686

NM_001206927.2(DNAH8):c.8690C>G (p.Ser2897Ter)

SNV
Germline

Chr6:38894807

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005116766

NM_001369.3(DNAH5):c.10590T>A (p.Tyr3530Ter)

SNV
Germline

Chr5:13753515

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005116802

NM_001277115.2(DNAH11):c.12369C>A (p.Tyr4123Ter)

SNV
Germline

Chr7:21880875

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005124291

NM_178452.6(DNAAF1):c.1450G>T (p.Glu484Ter)

SNV
Germline

Chr16:84170278

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005122293

NM_001369.3(DNAH5):c.3115G>T (p.Glu1039Ter)

SNV
Germline

Chr5:13882963

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005125836

NM_001369.3(DNAH5):c.9374-2A>C

SNV
Germline

Chr5:13770982

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005123988

NM_017802.4(DNAAF5):c.595+1G>C

SNV
Germline

Chr7:727316

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005132875

NM_001206927.2(DNAH8):c.9348+2T>C

SNV
Germline

Chr6:38906409

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005132914

NM_181426.2(CCDC39):c.892C>T (p.Gln298Ter)

SNV
Germline

Chr3:180654800

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005131133

NM_001277115.2(DNAH11):c.11496+1G>C

SNV
Germline

Chr7:21864658

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005142772

NM_018139.3(DNAAF2):c.1861G>T (p.Glu621Ter)

SNV
Germline

Chr14:49633289

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005141171

NM_018139.3(DNAAF2):c.646G>T (p.Glu216Ter)

SNV
Germline

Chr14:49634504

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005139279

NM_001369.3(DNAH5):c.5485-1G>A

SNV
Germline

Chr5:13841131

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005142469

NM_001369.3(DNAH5):c.119T>G (p.Leu40Ter)

SNV
Germline

Chr5:13931183

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005148290

NM_018076.5(ODAD2):c.2252+1G>C

SNV
Germline

Chr10:27936725

Likely pathogenic

Primary ciliary dyskinesia 23

Criteria Provided
Single Submitter

1 SubmittersRCV005150555

NM_001034853.2(RPGR):c.2332G>T (p.Glu778Ter)

SNV
Germline

ChrX:38286667

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005135278

NM_001277115.2(DNAH11):c.9336+1G>T

SNV
Germline

Chr7:21774000

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005153768

NM_001256715.2(DNAAF3):c.1238+1G>A

SNV
Germline

Chr19:55159532

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005150710

NM_001277115.2(DNAH11):c.11741T>A (p.Leu3914Ter)

SNV
Germline

Chr7:21867909

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005145653

NM_001277115.2(DNAH11):c.5095-14A>G

SNV
Germline

Chr7:21658784

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 7

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005145949 RCV005230852

NM_001206927.2(DNAH8):c.13303G>T (p.Glu4435Ter)

SNV
Germline

Chr6:39008902

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005154015

NM_001277115.2(DNAH11):c.3442G>T (p.Glu1148Ter)

SNV
Germline

Chr7:21601412

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005154074

NM_015896.4(ZMYND10):c.511-1G>A

SNV
Germline

Chr3:50343207

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005158084

NM_001369.3(DNAH5):c.11455+1G>C

SNV
Germline

Chr5:13737251

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005151696

NM_012472.6(DNAAF11):c.429+2T>C

SNV
Germline

Chr8:132637933

Likely pathogenic

Primary ciliary dyskinesia 19

Criteria Provided
Single Submitter

1 SubmittersRCV005166167

NM_017950.4(CCDC40):c.856-2A>G

SNV
Germline

Chr17:80049904

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005165447

NM_145038.5(DRC1):c.1925C>A (p.Ser642Ter)

SNV
Germline

Chr2:26454652

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005172125

NM_001277115.2(DNAH11):c.127G>T (p.Glu43Ter)

SNV
Germline

Chr7:21543372

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005157032

NM_001206927.2(DNAH8):c.10791-1G>T

SNV
Germline

Chr6:38923990

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005164886

NM_018076.5(ODAD2):c.2799+2T>C

SNV
Germline

Chr10:27862432

Likely pathogenic

Primary ciliary dyskinesia 23

Criteria Provided
Single Submitter

1 SubmittersRCV005170824

NM_017802.4(DNAAF5):c.685G>T (p.Glu229Ter)

SNV
Germline

Chr7:729752

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005171038

NM_001206927.2(DNAH8):c.13054-2A>G

SNV
Germline

Chr6:38990010

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005169191

NM_001034853.2(RPGR):c.3382C>T (p.Arg1128Ter)

SNV
Germline

ChrX:38285617

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005167328

NM_001277115.2(DNAH11):c.2836G>A (p.Ala946Thr)

SNV
Germline

Chr7:21599955

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005170660

NM_023036.6(DNAI2):c.873G>A (p.Trp291Ter)

SNV
Germline

Chr17:74301054

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005183026

NM_018076.5(ODAD2):c.866C>A (p.Ser289Ter)

SNV
Germline

Chr10:27981536

Pathogenic

Primary ciliary dyskinesia 23

Criteria Provided
Single Submitter

1 SubmittersRCV005175690

NM_001034853.2(RPGR):c.2719G>T (p.Glu907Ter)

SNV
Germline

ChrX:38286280

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005176298

NM_012144.4(DNAI1):c.814C>T (p.Gln272Ter)

SNV
Germline

Chr9:34493326

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005179234

NM_001206927.2(DNAH8):c.2665-1G>C

SNV
Germline

Chr6:38790288

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005179516

NM_001277115.2(DNAH11):c.10026+1G>C

SNV
Germline

Chr7:21789343

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005179591

NM_001369.3(DNAH5):c.4116+1G>A

SNV
Germline

Chr5:13866219

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005189297

NM_001369.3(DNAH5):c.9883G>T (p.Glu3295Ter)

SNV
Germline

Chr5:13768974

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005183680

NM_145038.5(DRC1):c.1751C>G (p.Ser584Ter)

SNV
Germline

Chr2:26453381

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005183899

NM_003114.5(SPAG1):c.305G>A (p.Trp102Ter)

SNV
Germline

Chr8:100177820

Pathogenic

Primary ciliary dyskinesia 28

Criteria Provided
Single Submitter

1 SubmittersRCV005184318

NM_001277115.2(DNAH11):c.11860A>G (p.Ile3954Val)

SNV
Germline

Chr7:21868884

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005190335

NM_023036.6(DNAI2):c.345+1G>T

SNV
Germline

Chr17:74285202

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005190629

NM_001277115.2(DNAH11):c.9742-1G>C

SNV
Germline

Chr7:21787400

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005188793

NM_001277115.2(DNAH11):c.8411G>A (p.Trp2804Ter)

SNV
Germline

Chr7:21744964

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005183451

NM_080860.4(RSPH1):c.365+2T>C

SNV
Germline

Chr21:42486369

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005190034

NM_001277115.2(DNAH11):c.2064T>A (p.Asn688Lys)

SNV
Germline

Chr7:21589298

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005188739

NM_001256715.2(DNAAF3):c.-5+6G>A

SNV
Germline

Chr19:55166517

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005193908

NM_001277115.2(DNAH11):c.1207C>T (p.Leu403Phe)

SNV
Germline

Chr7:21570081

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005194303

NM_001190787.3(MCIDAS):c.120+2T>C

SNV
Germline

Chr5:55227017

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005192297

NM_001277115.2(DNAH11):c.10898T>A (p.Leu3633Ter)

SNV
Germline

Chr7:21852468

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005192006

NM_012472.6(DNAAF11):c.224T>G (p.Leu75Ter)

SNV
Germline

Chr8:132656862

Pathogenic

Primary ciliary dyskinesia 19

Criteria Provided
Single Submitter

1 SubmittersRCV005195389

NM_015896.4(ZMYND10):c.1121+1G>A

SNV
Germline

Chr3:50341809

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005203774

NM_001481.3(GAS8):c.1221+1G>T

SNV
Germline

Chr16:90040510

Likely pathogenic

Primary ciliary dyskinesia 33

Criteria Provided
Single Submitter

1 SubmittersRCV005202886

NM_001010892.3(RSPH4A):c.1323G>A (p.Trp441Ter)

SNV
Germline

Chr6:116628030

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005201412

NM_001277115.2(DNAH11):c.11198T>A (p.Leu3733Ter)

SNV
Germline

Chr7:21854451

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005206035

NM_181426.2(CCDC39):c.151C>T (p.Arg51Ter)

SNV
Germline

Chr3:180663926

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005200840

NM_001034853.2(RPGR):c.1245+2T>C

SNV
Germline

ChrX:38298954

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005199043

NM_001034853.2(RPGR):c.194G>T (p.Gly65Val)

SNV
Germline

ChrX:38322906

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005199044

NM_001034853.2(RPGR):c.2128C>T (p.Gln710Ter)

SNV
Germline

ChrX:38286871

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005199160

NM_023036.6(DNAI2):c.184-2A>T

SNV
Germline

Chr17:74285038

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005199504

NM_021147.5(CCNO):c.203C>A (p.Ser68Ter)

SNV
Germline

Chr5:55233321

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005197235

NM_001369.3(DNAH5):c.13096A>T (p.Lys4366Ter)

SNV
Germline

Chr5:13714434

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

2 SubmittersRCV005200478

NM_001277115.2(DNAH11):c.12751-1G>A

SNV
Germline

Chr7:21894622

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005195853

NM_181426.2(CCDC39):c.1810A>T (p.Lys604Ter)

SNV
Germline

Chr3:180642057

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005196864

NM_001206927.2(DNAH8):c.5363+1G>A

SNV
Germline

Chr6:38850415

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005206696

NM_003611.3(OFD1):c.1540G>A (p.Glu514Lys)

SNV
Germline

ChrX:13757788

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005223379 RCV005458018

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_015896.4(ZMYND10):c.700+2T>C

SNV
Germline

Chr3:50342916

Pathogenic

Primary ciliary dyskinesia 22

Criteria Provided
Single Submitter

1 SubmittersRCV005252179

NM_178452.6(DNAAF1):c.1282G>T (p.Glu428Ter)

SNV
Germline

Chr16:84170110

Pathogenic

Primary ciliary dyskinesia 13

Criteria Provided
Single Submitter

1 SubmittersRCV005252185

NM_001277115.2(DNAH11):c.1974-1G>C

SNV
Germline

Chr7:21589207

Likely pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

1 SubmittersRCV005255380

NM_001277115.2(DNAH11):c.2169+2T>C

SNV
Germline

Chr7:21589405

Likely pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

1 SubmittersRCV005255382

NM_001277115.2(DNAH11):c.2712G>A (p.Trp904Ter)

SNV
Germline

Chr7:21599831

Pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

1 SubmittersRCV005255384

NM_001277115.2(DNAH11):c.3727G>T (p.Glu1243Ter)

SNV
Germline

Chr7:21606504

Likely pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

1 SubmittersRCV005255387

NM_001277115.2(DNAH11):c.3898C>T (p.Gln1300Ter)

SNV
Germline

Chr7:21615159

Pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

1 SubmittersRCV005255389

NM_001277115.2(DNAH11):c.4012-1G>C

SNV
Germline

Chr7:21616208

Likely pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

1 SubmittersRCV005255390

NM_001277115.2(DNAH11):c.4130G>A (p.Trp1377Ter)

SNV
Germline

Chr7:21617653

Likely pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

1 SubmittersRCV005255391

NM_001277115.2(DNAH11):c.4669C>T (p.Arg1557Ter)

SNV
Germline

Chr7:21636039

Likely pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

1 SubmittersRCV005255394

NM_001277115.2(DNAH11):c.4942C>T (p.Gln1648Ter)

SNV
Germline

Chr7:21639063

Pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

1 SubmittersRCV005255395

NM_001277115.2(DNAH11):c.5328+1G>T

SNV
Germline

Chr7:21659032

Likely pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

1 SubmittersRCV005255396

NM_001277115.2(DNAH11):c.7134+1G>A

SNV
Germline

Chr7:21717926

Pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

1 SubmittersRCV005255404

NM_001277115.2(DNAH11):c.8005C>T (p.Gln2669Ter)

SNV
Germline

Chr7:21742017

Pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

1 SubmittersRCV005255407

NM_001277115.2(DNAH11):c.8632C>T (p.Gln2878Ter)

SNV
Germline

Chr7:21748701

Likely pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

1 SubmittersRCV005255411

NM_001277115.2(DNAH11):c.9103-2A>C

SNV
Germline

Chr7:21773764

Likely pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

1 SubmittersRCV005255412

NM_001277115.2(DNAH11):c.12507+1G>C

SNV
Germline

Chr7:21884411

Pathogenic

Primary ciliary dyskinesia 7

Criteria Provided
Single Submitter

1 SubmittersRCV005255419

NM_017950.4(CCDC40):c.2832+513T>C

SNV
Germline

Chr17:80090397

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia 15

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005412745 RCV005358456

NM_017950.4(CCDC40):c.302C>G (p.Ser101Ter)

SNV
Germline

Chr17:80040020

Likely pathogenic

Primary ciliary dyskinesia 15

Criteria Provided
Single Submitter

1 SubmittersRCV005360330

NM_130810.4(DNAAF4):c.81C>A (p.Cys27Ter)

SNV
Germline

Chr15:55498249

Likely pathogenic

Primary ciliary dyskinesia 25

Criteria Provided
Single Submitter

1 SubmittersRCV005360404

NM_024867.4(SPEF2):c.586C>T (p.Gln196Ter)

SNV
Germline

Chr5:35646667

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005356831

NM_001364171.2(ODAD1):c.598-2A>C

SNV
Germline

Chr19:48306325

Likely pathogenic

Primary ciliary dyskinesia 20

Criteria Provided
Single Submitter

1 SubmittersRCV005396417

NM_031421.5(ODAD4):c.716G>A (p.Trp239Ter)

SNV
Germline

Chr17:41938647

Pathogenic

Primary ciliary dyskinesia 35

Criteria Provided
Single Submitter

1 SubmittersRCV005402284

NM_001270974.2(HYDIN):c.2047G>T (p.Glu683Ter)

SNV
Germline

Chr16:71067318

Pathogenic/Likely pathogenic

Primary ciliary dyskinesia 5

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005402293

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_001369.3(DNAH5):c.12640C>T (p.Gln4214Ter)

SNV
Germline

Chr5:13717380

Likely pathogenic

Primary ciliary dyskinesia 3

Criteria Provided
Single Submitter

1 SubmittersRCV005431056

NM_012472.6(DNAAF11):c.178+2T>A

SNV
Germline

Chr8:132661458

Likely pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005547035

NM_023036.6(DNAI2):c.862C>T (p.Gln288Ter)

SNV
Germline

Chr17:74299855

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005553846

NM_001369.3(DNAH5):c.4287T>G (p.Tyr1429Ter)

SNV
Germline

Chr5:13865736

Likely pathogenic

Primary ciliary dyskinesia

No Assertion Criteria Provided

1 SubmittersRCV005615615

NM_001369.3(DNAH5):c.5302C>T (p.Gln1768Ter)

SNV
Germline

Chr5:13841874

Likely pathogenic

Primary ciliary dyskinesia

No Assertion Criteria Provided

1 SubmittersRCV005615638

NM_001369.3(DNAH5):c.1489C>T (p.Gln497Ter)

SNV
Germline

Chr5:13913790

Pathogenic

Primary ciliary dyskinesia

No Assertion Criteria Provided

1 SubmittersRCV005615672

NM_001369.3(DNAH5):c.13126-2A>T

SNV
Germline

Chr5:13708337

Likely pathogenic

Primary ciliary dyskinesia

No Assertion Criteria Provided

1 SubmittersRCV005615699

NM_023036.6(DNAI2):c.1114A>T (p.Arg372Ter)

SNV
Germline

Chr17:74305345

Likely pathogenic

Primary ciliary dyskinesia

No Assertion Criteria Provided

1 SubmittersRCV005615803

NM_001369.3(DNAH5):c.3420C>A (p.Cys1140Ter)

SNV
Germline

Chr5:13871742

Likely pathogenic

Primary ciliary dyskinesia

No Assertion Criteria Provided

1 SubmittersRCV005615485

NM_017802.4(DNAAF5):c.1932-2A>C

SNV
Germline

Chr7:774046

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005625789

NM_001277115.2(DNAH11):c.13147C>T (p.Gln4383Ter)

SNV
Germline

Chr7:21899433

Pathogenic

Primary ciliary dyskinesia

Criteria Provided
Single Submitter

1 SubmittersRCV005626049