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.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_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_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_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_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_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_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_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.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_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_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_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_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_015512.5(DNAH1):c.3460A>C (p.Lys1154Gln)	SNV Germline	Chr3:52353613	Likely pathogenic	Kartagener syndrome Ciliary dyskinesia, primary, 37 Spermatogenic failure 18 Ciliary dyskinesia, primary, 37	Criteria Provided Single Submitter	CA346955	rs_544674332	3 SubmittersRCV000190948 RCV000495957 RCV003765209
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_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_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_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_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_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_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_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.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_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_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_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_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_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_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_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_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_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_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_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_012144.4(DNAI1):c.1311+2T>A	SNV Germline	Chr9:34506876	Pathogenic	Kartagener syndrome	Criteria Provided Single Submitter	CA373257880	rs_1587085165	2 SubmittersRCV001283790
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_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.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_012144.4(DNAI1):c.1311+2T>C	SNV Germline	Chr9:34506876	Likely pathogenic	Kartagener syndrome	Criteria Provided Single Submitter	CA373257881	rs_1587085165	1 SubmittersRCV001580695
NM_012144.4(DNAI1):c.1688G>A (p.Trp563Ter)	SNV Germline	Chr9:34514512	Likely pathogenic	Kartagener syndrome	Criteria Provided Single Submitter	CA373263797	rs_2132083938	1 SubmittersRCV001780988
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_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_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_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_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_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_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_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_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_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_012144.4(DNAI1):c.526G>T (p.Glu176Ter)	SNV Germline	Chr9:34490393	Pathogenic	Kartagener syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004771581
NM_012144.4(DNAI1):c.252C>G (p.Tyr84Ter)	SNV Germline	Chr9:34485508	Likely pathogenic	Kartagener syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004797566

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_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_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_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_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_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_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_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.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_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_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_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_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_015512.5(DNAH1):c.3460A>C (p.Lys1154Gln)

SNV
Germline

Chr3:52353613

Likely pathogenic

Kartagener syndrome
Ciliary dyskinesia, primary, 37
Spermatogenic failure 18
Ciliary dyskinesia, primary, 37

Criteria Provided
Single Submitter

CA346955

rs_544674332

3 SubmittersRCV000190948 RCV000495957 RCV003765209

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_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_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_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_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_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_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_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.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_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_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_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_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_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_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_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_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_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_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_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_012144.4(DNAI1):c.1311+2T>A

SNV
Germline

Chr9:34506876

Pathogenic

Kartagener syndrome

Criteria Provided
Single Submitter

CA373257880

rs_1587085165

2 SubmittersRCV001283790

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_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.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_012144.4(DNAI1):c.1311+2T>C

SNV
Germline

Chr9:34506876

Likely pathogenic

Kartagener syndrome

Criteria Provided
Single Submitter

CA373257881

rs_1587085165

1 SubmittersRCV001580695

NM_012144.4(DNAI1):c.1688G>A (p.Trp563Ter)

SNV
Germline

Chr9:34514512

Likely pathogenic

Kartagener syndrome

Criteria Provided
Single Submitter

CA373263797

rs_2132083938

1 SubmittersRCV001780988

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_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_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_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_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_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_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_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_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_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_012144.4(DNAI1):c.526G>T (p.Glu176Ter)

SNV
Germline

Chr9:34490393

Pathogenic

Kartagener syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004771581

NM_012144.4(DNAI1):c.252C>G (p.Tyr84Ter)

SNV
Germline

Chr9:34485508

Likely pathogenic

Kartagener syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004797566