Total 67 pathogenic variants reported for Kartagener syndrome 
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 SubmittersRCV000000291RCV000190914
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 SubmittersRCV000000559RCV000190866
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 SubmittersRCV000005956RCV000468431RCV003407285
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 SubmittersRCV000023801RCV000190934
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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA130413 rs_147718607

11 SubmittersRCV000032837RCV000190918RCV000231978RCV001579702
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp) SNV
Germline		 Chr9:34513112 Conflicting classifications of pathogenicity Kartagener syndrome
Primary ciliary dyskinesia
DNAI1-related disorder		 Criteria Provided
Conflicting Classifications
 CA345040 rs_376252276

6 SubmittersRCV000055932RCV000536539RCV003390758
NM_012144.4(DNAI1):c.2001+1G>A SNV
Germline		 Chr9:34517468 Pathogenic/Likely pathogenic Kartagener syndrome
Condition: not provided
Primary ciliary dyskinesia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA345043 rs_397515563

3 SubmittersRCV000055933RCV000592856RCV000698002
NM_015896.4(ZMYND10):c.47T>G (p.Val16Gly) SNV
Germline		 Chr3:50345533 Pathogenic Primary ciliary dyskinesia 22
Primary ciliary dyskinesia
Condition: not provided
Kartagener syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA214439 rs_138815960

9 SubmittersRCV000056264RCV000459281RCV001090588RCV000190919
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 SubmittersRCV000056284RCV000190922
NM_080860.4(RSPH1):c.85G>T (p.Glu29Ter) SNV
Germline		 Chr21:42493049 Pathogenic Primary ciliary dyskinesia 24
Kartagener syndrome
Primary ciliary dyskinesia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA144906 rs_138320978

8 SubmittersRCV000057509RCV000190923RCV000543760
NM_080860.4(RSPH1):c.275-2A>C SNV
Germline		 Chr21:42486463 Pathogenic Primary ciliary dyskinesia 24
Primary ciliary dyskinesia
Condition: not provided
Kartagener syndrome
RSPH1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA144911 rs_151107532

9 SubmittersRCV000057512RCV000467674RCV000726589RCV000190924RCV003974945
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

8 SubmittersRCV000074366RCV000190929RCV000556639RCV001255310RCV002293416
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 SubmittersRCV000144450RCV000190933
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

3 SubmittersRCV000174572RCV000696257RCV002470792
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

6 SubmittersRCV000178924RCV000233417RCV001095357
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 SubmittersRCV000190948RCV000495957RCV003765209
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter) SNV
Germline		 Chr5:13865675 Pathogenic Kartagener syndrome
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA346933 rs_771663107

8 SubmittersRCV000190910RCV000477807RCV000814567
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 SubmittersRCV000228761RCV002500798
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 SubmittersRCV000231603RCV000763195
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 SubmittersRCV000226585RCV000667669
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 SubmittersRCV000314091RCV003766108
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 SubmittersRCV000266377RCV001244888
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 SubmittersRCV000291502RCV001484320
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 SubmittersRCV000283437RCV002058799RCV003932521
NM_012144.4(DNAI1):c.638C>T (p.Thr213Met) SNV
Germline		 Chr9:34491511 Conflicting classifications of pathogenicity Kartagener syndrome
Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5034133 rs_201754555

4 SubmittersRCV000368210RCV002356503RCV002275027
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 SubmittersRCV000360963RCV003650576
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 SubmittersRCV000672311RCV002058800
NM_012144.4(DNAI1):c.389-1G>C SNV
Germline		 Chr9:34490011 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Kartagener syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5034046 rs_200488444

8 SubmittersRCV000552711RCV000667327RCV001551769
NM_012144.4(DNAI1):c.1145G>A (p.Ser382Asn) SNV
Germline		 Chr9:34506708 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Kartagener syndrome		 Criteria Provided
Conflicting Classifications
 CA5034303 rs_141690214

4 SubmittersRCV000559024RCV000764832
NM_001369.3(DNAH5):c.6000C>A (p.Tyr2000Ter) SNV
Germline		 Chr5:13830658 Pathogenic/Likely pathogenic Kartagener syndrome
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA359202544 rs_773208371

3 SubmittersRCV000578182RCV002466541RCV003652053
NM_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 SubmittersRCV000578202RCV002530363
NM_012144.4(DNAI1):c.1003G>T (p.Val335Phe) SNV
Germline		 Chr9:34500823 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Kartagener syndrome		 Criteria Provided
Conflicting Classifications
 CA5034245 rs_11793196

2 SubmittersRCV000629513RCV000995536
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 SubmittersRCV000629613RCV001169803
NM_012144.4(DNAI1):c.520G>A (p.Glu174Lys) SNV
Germline		 Chr9:34490387 Conflicting classifications of pathogenicity Kartagener syndrome
Primary ciliary dyskinesia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_141157671

3 SubmittersRCV000666986RCV000860525RCV001756128
NM_012144.4(DNAI1):c.1454C>T (p.Thr485Met) SNV
Germline		 Chr9:34512389 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Kartagener syndrome		 Criteria Provided
Conflicting Classifications
 rs_137935543

4 SubmittersRCV000691726RCV001167944
NM_012144.4(DNAI1):c.1612G>A (p.Ala538Thr) SNV
Germline		 Chr9:34514436 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Kartagener syndrome
See cases		 Criteria Provided
Conflicting Classifications
 rs_368248592

6 SubmittersRCV000707353RCV001706703RCV004584407
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
 rs_767667443

3 SubmittersRCV000800816RCV001167342
NM_012144.4(DNAI1):c.551A>G (p.Lys184Arg) SNV
Germline		 Chr9:34490418 Conflicting classifications of pathogenicity Primary ciliary dyskinesia
Kartagener syndrome		 Criteria Provided
Conflicting Classifications
 rs_146203427

4 SubmittersRCV000860822RCV001165754
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
 rs_750785483

4 SubmittersRCV000864112RCV001165833
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
 rs_765805502

2 SubmittersRCV000924160RCV001169738
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
 rs_751010917

2 SubmittersRCV001169804RCV002068045
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
 rs_926347298

4 SubmittersRCV001224667RCV003234003
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
 rs_182015909

4 SubmittersRCV001241013RCV002491801
NM_012144.4(DNAI1):c.1311+2T>A SNV
Germline		 Chr9:34506876 Pathogenic Kartagener syndrome Criteria Provided
Single Submitter
 rs_1587085165

2 SubmittersRCV001283790
NM_012144.4(DNAI1):c.1311+2T>C SNV
Germline		 Chr9:34506876 Likely pathogenic Kartagener syndrome Criteria Provided
Single Submitter
 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
 rs_2132083938

1 SubmittersRCV001780988
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
 rs_2132068900

2 SubmittersRCV002011185RCV002498019
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
 rs_1451350869

3 SubmittersRCV001912527RCV002490154
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

2 SubmittersRCV002573144RCV003614200