A total 20 pathogenic variants reported in gene cilia and flagella associated protein 300 (CFAP300)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_032930.3(CFAP300):c.776A>G (p.His259Arg) SNV
Germline		 Chr11:102083171 Pathogenic Ciliary dyskinesia, primary, 38 No Assertion Criteria Provided
 CA6246120 rs_1555071691

1 SubmittersRCV000664433
NM_032930.3(CFAP300):c.361C>T (p.Arg121Ter) SNV
Germline		 Chr11:102066577 Pathogenic Ciliary dyskinesia, primary, 38
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6245984 rs_561237622

3 SubmittersRCV000664434RCV003727793
NM_032930.3(CFAP300):c.154C>T (p.Gln52Ter) SNV
Germline		 Chr11:102047858 Pathogenic Ciliary dyskinesia, primary, 38 No Assertion Criteria Provided
 CA6245908 rs_767760877

1 SubmittersRCV000664435
NM_032930.3(CFAP300):c.433A>T (p.Arg145Ter) SNV
Germline		 Chr11:102066649 Pathogenic Ciliary dyskinesia, primary, 38
Condition: not provided		 Criteria Provided
Single Submitter
 CA6246001 rs_754773453

2 SubmittersRCV000664436RCV003727794
NM_032930.3(CFAP300):c.430C>T (p.Arg144Ter) SNV
Germline		 Chr11:102066646 Pathogenic/Likely pathogenic Ciliary dyskinesia, primary, 38
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6245999 rs_762224876

2 SubmittersRCV002221704RCV003093855
NM_032930.3(CFAP300):c.289G>T (p.Glu97Ter) SNV
Germline		 Chr11:102066505 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA6245971 rs_763307794

1 SubmittersRCV002705820
NM_032930.3(CFAP300):c.613C>T (p.Arg205Ter) SNV
Germline		 Chr11:102081219 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA6246071 rs_140641107

1 SubmittersRCV002730388
NM_032930.3(CFAP300):c.478C>T (p.Gln160Ter) SNV
Germline		 Chr11:102075915 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA382489571 rs_2496352247

1 SubmittersRCV003553688
NM_032930.3(CFAP300):c.110+1G>T SNV
Germline		 Chr11:102047581 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA228275760 rs_865809219

1 SubmittersRCV003664690
NM_032930.3(CFAP300):c.313C>T (p.Gln105Ter) SNV
Germline		 Chr11:102066529 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA382489177 rs_2496335021

1 SubmittersRCV003717417
NM_032930.3(CFAP300):c.435+4A>G SNV
Germline		 Chr11:102066655 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA941605453 rs_1942231774

1 SubmittersRCV003732622
NM_032930.3(CFAP300):c.675+5G>A SNV
Germline		 Chr11:102081286 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA6246076 rs_746604945

1 SubmittersRCV003873524
NM_032930.3(CFAP300):c.175A>T (p.Lys59Ter) SNV
Unknown		 Chr11:102047879 Likely pathogenic Ciliary dyskinesia, primary, 38 No Assertion Criteria Provided
 CA382488837 rs_2496303476

1 SubmittersRCV003881668
NM_032930.3(CFAP300):c.353A>G (p.Asp118Gly) SNV
Germline		 Chr11:102066569 Likely pathogenic Ciliary dyskinesia, primary, 38 Criteria Provided
Single Submitter

1 SubmittersRCV004719413
NM_032930.3(CFAP300):c.487A>T (p.Arg163Ter) SNV
Germline		 Chr11:102075924 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005084299