A total 73 pathogenic variants reported in gene radial spoke head component 4A (RSPH4A)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
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 SubmittersRCV000000532RCV000226196RCV005252651
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 SubmittersRCV000000533RCV000473371
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 SubmittersRCV000000534RCV000525090
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 SubmittersRCV000151744RCV000327302RCV001095098RCV002272141
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 SubmittersRCV000242421RCV000543028RCV000724046RCV001155427
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 SubmittersRCV000197923RCV000252676RCV001095100
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 SubmittersRCV000338468RCV000222735RCV002057142
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 SubmittersRCV000220808RCV000531490RCV003947712RCV001157112RCV004721302
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 SubmittersRCV000243411RCV000287901
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 SubmittersRCV000253470RCV002401956RCV001154592
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 SubmittersRCV000396720RCV001094961
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 SubmittersRCV000271851RCV001095101RCV000598056RCV003932466
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 SubmittersRCV000385358RCV001095096
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 SubmittersRCV000381582RCV000593752RCV002058555RCV003972491
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_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 SubmittersRCV000554729RCV002470901RCV004820042
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 SubmittersRCV000539991RCV002497041RCV004782426
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_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 SubmittersRCV000629320RCV000778772
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_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 SubmittersRCV000699729RCV001357232
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 SubmittersRCV000805555RCV001809821
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_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 SubmittersRCV000825543RCV002282387RCV004792546
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 SubmittersRCV001154590RCV001412513
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 SubmittersRCV000866349RCV001731957
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_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 SubmittersRCV001156994RCV002559508
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 SubmittersRCV001151578RCV002558314
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 SubmittersRCV001155429RCV002558348
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_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 SubmittersRCV001381360RCV003987856
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_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_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 SubmittersRCV002286144RCV004017922
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_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_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_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_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_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_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_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_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_001010892.3(RSPH4A):c.1108G>T (p.Glu370Ter) SNV
Germline		 Chr6:116627815 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter

1 SubmittersRCV004799131
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_001010892.3(RSPH4A):c.1662+2T>C SNV
Germline		 Chr6:116628371 Likely pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter

1 SubmittersRCV005085640
NM_001010892.3(RSPH4A):c.1323G>A (p.Trp441Ter) SNV
Germline		 Chr6:116628030 Pathogenic Primary ciliary dyskinesia Criteria Provided
Single Submitter

1 SubmittersRCV005201412