CCDC39 — 945 ClinVar variants
All ClinVar germline CCDC39 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 258 flagged for review →
115 Pathogenic · 17 Pathogenic/Likely pathogenic · 37 Likely pathogenic · 52 Conflicting · 56 Benign · 10 Benign/Likely benign · 382 Likely benign · 276 Uncertain significance
Full CCDC39 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 258
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
CCDC39 p.Asp117Gly
Likely pathogenic
Single submitter
primary ciliary dyskinesia
Predictors agree, ClinVar conflicts 13
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CCDC39 p.Arg250Lys
Conflicting
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Arg629His
Conflicting
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Asn686Ser
Conflicting
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Glu657Lys
Conflicting
Single submitter
primary ciliary dyskinesia 14
-
CCDC39 p.His300Gln
Conflicting
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Leu538Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Pro652Ser
Conflicting
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ser625Ile
Conflicting
Single submitter
CCDC39-related disorder
-
CCDC39 p.Thr358Ile
Conflicting
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Thr594Ile
Conflicting
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Thr850Ala
Conflicting
Single submitter
primary ciliary dyskinesia 14
-
CCDC39 p.Thr850Ser
Conflicting
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Val285Met
Conflicting
Single submitter
primary ciliary dyskinesia
Predictors lean, ClinVar uncertain 144
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CCDC39 p.Ala142Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Ala157Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Ala768Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Arg214His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Asp99Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Gln669Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Gln711Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Glu272Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Glu28Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Glu851Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Gly274Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 14
-
CCDC39 p.His884Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Ile111Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Ile224Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Ile603Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Ile764Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 14
-
CCDC39 p.Leu132Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Leu563Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Lys265Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Met368Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Pro921Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Ser3Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Ser453Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Ser496Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Thr230Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Thr789Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Thr872Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 14
-
CCDC39 p.Ala125Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ala142Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 14
-
CCDC39 p.Ala418Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ala479Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ala595Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ala780Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ala90Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ala90Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Arg103Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Arg103Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Arg214Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
- CCDC39 p.Arg345Lys Uncertain significance Single submitter
-
CCDC39 p.Arg345Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Arg51Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Arg542Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Arg599Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Arg631Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Arg641Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Arg745Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Arg923Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Asn194Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Asn218Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Asn260Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Asn275Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Asn276Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Asn319Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Asn53His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Asn770Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Asp130Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Asp36Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Asp441Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Asp541Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Asp541His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Asp762Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Asp818Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Gln187Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Gln253Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Gln298Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Gln410Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Gln728Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Glu12Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Glu278Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Glu362Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Glu630Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Glu724Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Glu791Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Glu8Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Gly400Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Gly919Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.His10Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.His300Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 14
-
CCDC39 p.His300Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.His340Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.His884Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.His884Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ile122Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ile484Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ile603Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ile855Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Leu143Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Leu223Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Leu440Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Leu487Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Leu538Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Leu566Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Leu583Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Leu583Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Leu72Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Leu750Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Lys190Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Lys215Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Lys236Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Lys25Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Lys263Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Lys334Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Lys545Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Lys569Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
- CCDC39 p.Lys604Arg Uncertain significance Single submitter
-
CCDC39 p.Lys607Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Lys805Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Met609Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Met841Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Phe123Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Pro718Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Pro718Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Pro718Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 14
-
CCDC39 p.Ser116Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ser155Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ser271Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ser429Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia 14
-
CCDC39 p.Ser523Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ser543Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ser625Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ser720Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ser720Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ser782Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ser786Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia 14
-
CCDC39 p.Ser82Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Thr255Met
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Thr277Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Thr302Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Thr358Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Thr413Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Thr497Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Thr497Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Thr807Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Thr80Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Tyr642Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Tyr781Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Val285Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Val401Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Val701Met
Uncertain significance
Single submitter
primary ciliary dyskinesia 14
-
CCDC39 p.Val843Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Val843Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Val906Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Val934Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia 14
-
CCDC39 p.Val97Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
Predictors split 100
The independent predictors disagree with each other — read with care.
-
CCDC39 p.Arg103Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Arg214Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 14
-
CCDC39 p.Arg463Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Arg463Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 14
-
CCDC39 p.Arg46Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Arg621Trp
Likely benign
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Arg629Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Arg78His
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Arg811Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Arg829Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 14
-
CCDC39 p.Arg876Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Asn21Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Gln746His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Glu184Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Glu23Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 14
-
CCDC39 p.Glu408Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Glu416Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Gly654Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 14
-
CCDC39 p.His152Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Ile852Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Leu487Val
Benign
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Leu547Phe
Uncertain significance
Multiple submitters
CCDC39-related disorder
-
CCDC39 p.Leu796Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Lys87Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Pro18Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Pro912Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Ser3Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Ser719Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Ser881Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Ser920Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Thr343Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Val701Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Val771Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCDC39 p.Ala145Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ala209Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ala286Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ala611Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ala694Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Arg172Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Arg180Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Arg288Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia 14
-
CCDC39 p.Arg288His
Conflicting
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Arg294Gly
Conflicting
Single submitter
primary ciliary dyskinesia 14
-
CCDC39 p.Arg329Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Arg38Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Arg46His
Conflicting
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Arg51Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Arg570Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Arg570Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Arg631Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Arg78Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Arg829Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Arg829His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Arg853Cys
Conflicting
Single submitter
primary ciliary dyskinesia 14
-
CCDC39 p.Arg853His
Conflicting
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Arg876His
Likely benign
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Asn331Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Asp130Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Asp130Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Asp167Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Asp240His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Asp312Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Asp99His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Gln221Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Gln448His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Gln91Arg
Conflicting
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Glu184Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Glu310Gly
Uncertain significance
Single submitter
Respiratory ciliopathies including non-CF bronchiectasis
-
CCDC39 p.Glu342Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Glu378Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Glu385Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
- CCDC39 p.Glu581Gly Conflicting Single submitter
-
CCDC39 p.Glu598Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Glu622Gly
Conflicting
Single submitter
primary ciliary dyskinesia 14
-
CCDC39 p.Glu657Asp
Conflicting
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Gly400Cys
Conflicting
Single submitter
primary ciliary dyskinesia 14
-
CCDC39 p.His509Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ile111Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ile231Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ile241Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ile845Thr
Conflicting
Single submitter
primary ciliary dyskinesia 14
-
CCDC39 p.Leu206Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Leu261Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Leu445Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Leu536Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Leu566Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Lys289Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Lys726Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Phe456Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Pro794Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Pro794Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ser2Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ser322Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ser915Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ser932Asn
Conflicting
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Ser939Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Thr126Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Thr816Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Thr850Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCDC39 p.Glu847Gly
Uncertain significance
No assertion criteria
Fibrous Sheath Dysplasia
All CCDC39 variants
Pathogenic 115
- c.210+2T>C Multiple submitters primary ciliary dyskinesia 14
- c.357+1G>C Multiple submitters primary ciliary dyskinesia
- c.610-2A>G Multiple submitters primary ciliary dyskinesia
- c.931-1G>T Multiple submitters primary ciliary dyskinesia
- p.Arg542fs Multiple submitters primary ciliary dyskinesia
- p.Asn473fs Multiple submitters primary ciliary dyskinesia
- p.Cys680fs Multiple submitters primary ciliary dyskinesia 14
- p.Cys73fs Multiple submitters primary ciliary dyskinesia
- p.Gln833fs Multiple submitters primary ciliary dyskinesia 14
- p.Glu731fs Multiple submitters primary ciliary dyskinesia
- p.Glu866Ter Multiple submitters primary ciliary dyskinesia 14
- p.Ile624fs Multiple submitters primary ciliary dyskinesia
- p.Leu176fs Multiple submitters primary ciliary dyskinesia
- p.Leu183fs Multiple submitters primary ciliary dyskinesia
- p.Ser786fs Multiple submitters primary ciliary dyskinesia
- p.Thr349fs Multiple submitters primary ciliary dyskinesia
- p.Tyr452Ter Multiple submitters Respiratory ciliopathies including non-CF bronchiectasis
- c.1035-227_1167+308del Single submitter primary ciliary dyskinesia 14
- c.1167+1G>A Single submitter primary ciliary dyskinesia
- c.1528-2A>G Single submitter primary ciliary dyskinesia
- c.1528-2A>T Single submitter primary ciliary dyskinesia
- c.1874+1G>A Single submitter primary ciliary dyskinesia
- c.2586+1G>A Single submitter primary ciliary dyskinesia
- c.610-2A>C Single submitter primary ciliary dyskinesia
- p.Ala151fs Single submitter primary ciliary dyskinesia
- p.Ala418fs Single submitter primary ciliary dyskinesia
- p.Ala518fs Single submitter primary ciliary dyskinesia 14
- p.Arg282fs Single submitter primary ciliary dyskinesia
- p.Arg38fs Single submitter primary ciliary dyskinesia
- p.Arg38Ter Single submitter primary ciliary dyskinesia
- p.Arg51Ter Single submitter primary ciliary dyskinesia
- p.Arg572Ter Single submitter primary ciliary dyskinesia 14
- p.Arg615fs Single submitter primary ciliary dyskinesia
- p.Arg631_Leu632insTer Single submitter primary ciliary dyskinesia
- p.Arg798fs Single submitter primary ciliary dyskinesia
- p.Arg829fs Single submitter primary ciliary dyskinesia 14
- p.Arg96Ter Single submitter primary ciliary dyskinesia
- p.Asn353fs Single submitter primary ciliary dyskinesia
- p.Asn53fs Single submitter primary ciliary dyskinesia
- p.Asp387fs Single submitter primary ciliary dyskinesia
- p.Asp548fs Single submitter primary ciliary dyskinesia
- p.Cys134Ter Single submitter primary ciliary dyskinesia
- p.Gln165Ter Single submitter primary ciliary dyskinesia
- p.Gln177Ter Single submitter primary ciliary dyskinesia
- p.Gln221fs Single submitter primary ciliary dyskinesia
- p.Gln298Ter Single submitter primary ciliary dyskinesia
- p.Gln410Ter Single submitter primary ciliary dyskinesia
- p.Gln438fs Single submitter primary ciliary dyskinesia
- p.Gln527Ter Single submitter primary ciliary dyskinesia
- p.Gln613Ter Single submitter primary ciliary dyskinesia
- p.Gln732Ter Single submitter primary ciliary dyskinesia
- p.Gln751fs Single submitter primary ciliary dyskinesia
- p.Gln784Ter Single submitter primary ciliary dyskinesia
- p.Gln824Ter Single submitter primary ciliary dyskinesia
- p.Gln857Ter Single submitter primary ciliary dyskinesia
- p.Glu144fs Single submitter primary ciliary dyskinesia
- p.Glu198fs Single submitter primary ciliary dyskinesia
- p.Glu222Ter Single submitter primary ciliary dyskinesia
- p.Glu372fs Single submitter primary ciliary dyskinesia
- p.Glu416Ter Single submitter primary ciliary dyskinesia 14
- p.Glu449Ter Single submitter primary ciliary dyskinesia
- p.Glu462Ter Single submitter primary ciliary dyskinesia
- p.Glu471Ter Single submitter primary ciliary dyskinesia
- p.Glu47fs Single submitter primary ciliary dyskinesia
- p.Glu47Ter Single submitter
- p.Glu486fs Single submitter primary ciliary dyskinesia 14
- p.Glu535Ter Single submitter primary ciliary dyskinesia
- p.Glu546Ter Single submitter primary ciliary dyskinesia
- p.Glu586fs Single submitter primary ciliary dyskinesia
- p.Glu601Ter Single submitter primary ciliary dyskinesia
- p.Glu673Ter Single submitter primary ciliary dyskinesia
- p.Glu777fs Single submitter primary ciliary dyskinesia
- p.Glu797_Arg798insTer Single submitter primary ciliary dyskinesia
- p.Glu848fs Single submitter primary ciliary dyskinesia
- p.Glu851Ter Single submitter primary ciliary dyskinesia
- p.Glu93Ter Single submitter primary ciliary dyskinesia
- p.Gly400fs Single submitter primary ciliary dyskinesia
- p.Gly95fs Single submitter primary ciliary dyskinesia
- p.Ile224Ter Single submitter primary ciliary dyskinesia
- p.Ile559fs Single submitter primary ciliary dyskinesia
- p.Leu420fs Single submitter primary ciliary dyskinesia
- p.Leu632fs Single submitter primary ciliary dyskinesia
- p.Leu796Ter Single submitter primary ciliary dyskinesia
- p.Lys114fs Single submitter primary ciliary dyskinesia
- p.Lys190fs Single submitter primary ciliary dyskinesia
- p.Lys236Ter Single submitter primary ciliary dyskinesia
- p.Lys281Ter Single submitter primary ciliary dyskinesia
- p.Lys315_Ala316insTer Single submitter primary ciliary dyskinesia
- p.Lys336fs Single submitter primary ciliary dyskinesia
- p.Lys336Ter Single submitter primary ciliary dyskinesia
- p.Lys415fs Single submitter primary ciliary dyskinesia 14
- p.Lys495fs Single submitter primary ciliary dyskinesia
- p.Lys565Ter Single submitter primary ciliary dyskinesia
- p.Lys569Ter Single submitter primary ciliary dyskinesia
- p.Lys578Ter Single submitter primary ciliary dyskinesia
- p.Lys604Ter Single submitter primary ciliary dyskinesia
- p.Met414fs Single submitter primary ciliary dyskinesia
- p.Met55fs Single submitter primary ciliary dyskinesia
- p.Phe403fs Single submitter primary ciliary dyskinesia
- p.Pro868fs Single submitter primary ciliary dyskinesia
- p.Ser271fs Single submitter primary ciliary dyskinesia
- p.Ser32Ter Single submitter primary ciliary dyskinesia
- p.Ser496fs Single submitter primary ciliary dyskinesia
- p.Ser584_Leu585insTer Single submitter primary ciliary dyskinesia
- p.Ser612fs Single submitter primary ciliary dyskinesia
- p.Ser633fs Single submitter primary ciliary dyskinesia
- p.Thr182fs Single submitter primary ciliary dyskinesia
- p.Thr317fs Single submitter primary ciliary dyskinesia
- p.Thr358fs Single submitter primary ciliary dyskinesia
- p.Trp146fs Single submitter primary ciliary dyskinesia
- p.Tyr163fs Single submitter primary ciliary dyskinesia
- p.Tyr297Ter Single submitter primary ciliary dyskinesia
- p.Val461fs Single submitter primary ciliary dyskinesia
- p.Val582fs Single submitter
- p.Val647fs Single submitter primary ciliary dyskinesia
Pathogenic/Likely pathogenic 17
- c.1034+2T>A Multiple submitters primary ciliary dyskinesia
- c.1167+1261A>G Multiple submitters primary ciliary dyskinesia 14
- c.1665+1G>A Multiple submitters Respiratory ciliopathies including non-CF bronchiectasis
- c.1999-2A>T Multiple submitters primary ciliary dyskinesia
- c.610_613del Multiple submitters primary ciliary dyskinesia
- p.Ala688fs Multiple submitters primary ciliary dyskinesia 14
- p.Arg615_Tyr616insTer Multiple submitters primary ciliary dyskinesia 14
- p.Gln779Ter Multiple submitters primary ciliary dyskinesia
- p.Glu627fs Multiple submitters primary ciliary dyskinesia 14
- p.Glu655fs Multiple submitters primary ciliary dyskinesia
- p.His340fs Multiple submitters primary ciliary dyskinesia 14
- p.Lys25fs Multiple submitters primary ciliary dyskinesia
- p.Lys836fs Multiple submitters primary ciliary dyskinesia
- p.Met831fs Multiple submitters primary ciliary dyskinesia 14
- p.Phe514fs Multiple submitters primary ciliary dyskinesia
- p.Thr277fs Multiple submitters primary ciliary dyskinesia 14
- p.Tyr742Ter Multiple submitters primary ciliary dyskinesia
Likely pathogenic 37
- c.1362+1G>A Multiple submitters primary ciliary dyskinesia 14
- c.516+1G>A Multiple submitters primary ciliary dyskinesia 14
- c.1034+1G>A Single submitter primary ciliary dyskinesia
- c.1168-2A>C Single submitter primary ciliary dyskinesia
- c.1363-11A>G Single submitter primary ciliary dyskinesia
- c.1666-9C>G Single submitter primary ciliary dyskinesia
- c.1865_1874+1del Single submitter primary ciliary dyskinesia 14
- c.1874+2T>C Single submitter primary ciliary dyskinesia
- c.1875-1G>C Single submitter primary ciliary dyskinesia
- c.1962_1998+30del Single submitter primary ciliary dyskinesia
- c.1999-1G>C Single submitter primary ciliary dyskinesia
- c.2158+1G>A Single submitter primary ciliary dyskinesia 14
- c.2266-1G>A Single submitter primary ciliary dyskinesia
- c.2266-2A>T Single submitter primary ciliary dyskinesia 14
- c.2407-2del Single submitter primary ciliary dyskinesia
- c.2409_2410del Single submitter primary ciliary dyskinesia 14
- c.90+1G>C Single submitter primary ciliary dyskinesia 14
- c.930+1G>A Single submitter primary ciliary dyskinesia
- p.Arg256fs Single submitter primary ciliary dyskinesia 14
- p.Asp117Gly Single submitter primary ciliary dyskinesia ⚠
- p.Asp524fs Single submitter primary ciliary dyskinesia 14
- p.Gln166Ter Single submitter primary ciliary dyskinesia 14
- p.Gln226Ter Single submitter primary ciliary dyskinesia 14
- p.Gln619Ter Single submitter primary ciliary dyskinesia 14
- p.Gln802Ter Single submitter primary ciliary dyskinesia 14
- p.Glu184Ter Single submitter primary ciliary dyskinesia 14
- p.Glu416fs Single submitter primary ciliary dyskinesia 14
- p.Glu4Ter Single submitter primary ciliary dyskinesia 14
- p.Ile200fs Single submitter primary ciliary dyskinesia 14
- p.Ile484fs Single submitter primary ciliary dyskinesia 14
- p.Leu261Ter Single submitter primary ciliary dyskinesia 14
- p.Leu328fs Single submitter primary ciliary dyskinesia 14
- p.Leu328Pro Single submitter primary ciliary dyskinesia 14
- p.Lys118del Single submitter primary ciliary dyskinesia
- p.Lys267Ter Single submitter primary ciliary dyskinesia 14
- p.Phe783fs Single submitter primary ciliary dyskinesia 14
- p.Lys389= No assertion criteria primary ciliary dyskinesia 14
Conflicting classifications of pathogenicity 52
- c.1034+11A>G Single submitter primary ciliary dyskinesia 14
- c.1035-5T>C Single submitter primary ciliary dyskinesia
- c.1362+13T>C Single submitter primary ciliary dyskinesia
- c.1363-3del Single submitter primary ciliary dyskinesia
- c.210+4C>T Single submitter primary ciliary dyskinesia
- c.2266-5T>C Single submitter primary ciliary dyskinesia 14
- c.2266-7dup Single submitter primary ciliary dyskinesia
- c.2407-8A>T Single submitter primary ciliary dyskinesia 14
- c.*545C>A Single submitter primary ciliary dyskinesia 14
- p.Ala611= Single submitter primary ciliary dyskinesia
- p.Arg250Lys Single submitter primary ciliary dyskinesia ⚠
- p.Arg288His Single submitter primary ciliary dyskinesia ⚠
- p.Arg294Gly Single submitter primary ciliary dyskinesia 14 ⚠
- p.Arg46His Single submitter primary ciliary dyskinesia ⚠
- p.Arg599Ter Single submitter primary ciliary dyskinesia
- p.Arg629His Single submitter primary ciliary dyskinesia ⚠
- p.Arg853Cys Single submitter primary ciliary dyskinesia 14 ⚠
- p.Arg853His Single submitter primary ciliary dyskinesia ⚠
- p.Asn686Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asp379= Single submitter primary ciliary dyskinesia 14
- p.Asp392= Single submitter primary ciliary dyskinesia
- p.Cys803= Single submitter primary ciliary dyskinesia
- p.Gln177= Single submitter primary ciliary dyskinesia
- p.Gln91Arg Single submitter primary ciliary dyskinesia ⚠
- p.Glu581Gly Single submitter ⚠
- p.Glu622Gly Single submitter primary ciliary dyskinesia 14 ⚠
- p.Glu657Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu657Lys Single submitter primary ciliary dyskinesia 14 ⚠
- p.Gly14= Single submitter primary ciliary dyskinesia 14
- p.Gly400Cys Single submitter primary ciliary dyskinesia 14 ⚠
- p.His300Gln Single submitter primary ciliary dyskinesia ⚠
- p.His576= Single submitter primary ciliary dyskinesia
- p.His606= Single submitter primary ciliary dyskinesia 14
- p.Ile845Thr Single submitter primary ciliary dyskinesia 14 ⚠
- p.Leu132= Single submitter primary ciliary dyskinesia
- p.Leu183= Single submitter primary ciliary dyskinesia
- p.Leu538Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu632= Single submitter primary ciliary dyskinesia
- p.Leu842= Single submitter primary ciliary dyskinesia
- p.Lys905= Single submitter primary ciliary dyskinesia
- p.Lys941= Single submitter primary ciliary dyskinesia 14
- p.Met1Thr Single submitter primary ciliary dyskinesia
- p.Pro652Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ser625Ile Single submitter CCDC39-related disorder ⚠
- p.Ser932Asn Single submitter primary ciliary dyskinesia ⚠
- p.Thr295= Single submitter primary ciliary dyskinesia
- p.Thr358Ile Single submitter primary ciliary dyskinesia ⚠
- p.Thr594Ile Single submitter primary ciliary dyskinesia ⚠
- p.Thr850Ala Single submitter primary ciliary dyskinesia 14 ⚠
- p.Thr850Ser Single submitter primary ciliary dyskinesia ⚠
- p.Tyr693= Single submitter primary ciliary dyskinesia
- p.Val285Met Single submitter primary ciliary dyskinesia ⚠
Benign 56
- c.1168-32A>G Multiple submitters
- c.1363-23dup Multiple submitters primary ciliary dyskinesia
- c.1528-43A>G Multiple submitters primary ciliary dyskinesia
- c.1875-20G>A Multiple submitters primary ciliary dyskinesia
- c.211-56G>T Multiple submitters
- c.2669+6C>T Multiple submitters primary ciliary dyskinesia 14
- c.358-84G>C Multiple submitters
- c.90+105C>T Multiple submitters
- c.930+12C>G Multiple submitters primary ciliary dyskinesia
- c.930+95A>G Multiple submitters
- c.931-59G>T Multiple submitters
- c.*133A>T Multiple submitters primary ciliary dyskinesia 14
- c.*499A>C Multiple submitters primary ciliary dyskinesia 14
- p.Gln744Glu Multiple submitters primary ciliary dyskinesia
- p.Glu416= Multiple submitters primary ciliary dyskinesia
- p.Leu158Val Multiple submitters primary ciliary dyskinesia
- p.Leu487Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu767= Multiple submitters primary ciliary dyskinesia
- p.Ser453= Multiple submitters primary ciliary dyskinesia
- p.Thr182Ser Multiple submitters primary ciliary dyskinesia
- p.Thr760Ala Multiple submitters primary ciliary dyskinesia 14
- p.Val799= Multiple submitters primary ciliary dyskinesia
- c.1034+201T>C Single submitter
- c.1035-227T>C Single submitter
- c.1035-231C>T Single submitter
- c.1035-232G>A Single submitter
- c.1167+1302G>T Single submitter
- c.1167+1324T>G Single submitter
- c.1167+1444C>T Single submitter
- c.1167+15dup Single submitter primary ciliary dyskinesia
- c.1167+196del Single submitter
- c.1167+935A>C Single submitter
- c.1167+936C>T Single submitter
- c.1362+280A>C Single submitter
- c.1363-14_1363-13dup Single submitter primary ciliary dyskinesia
- c.1527+191C>T Single submitter
- c.1528-12del Single submitter primary ciliary dyskinesia
- c.1666-163dup Single submitter
- c.1998+209_1998+217dup Single submitter
- c.1998+292C>T Single submitter
- c.210+182dup Single submitter
- c.210+197del Single submitter
- c.2158+158del Single submitter
- c.2266-7del Single submitter primary ciliary dyskinesia
- c.2669+193C>G Single submitter
- c.2670-126C>T Single submitter
- c.357+174A>G Single submitter
- c.738+169G>A Single submitter
- c.738+195T>G Single submitter
- c.91-255A>C Single submitter
- c.91-331T>C Single submitter
- c.930+103dup Single submitter
- c.930+137del Single submitter
- c.*546A>C Single submitter primary ciliary dyskinesia 14
- c.*575T>C Single submitter primary ciliary dyskinesia 14
- c.*800G>A Single submitter primary ciliary dyskinesia 14
Benign/Likely benign 10
- c.1363-13del Multiple submitters primary ciliary dyskinesia 14
- c.2159-16A>C Multiple submitters primary ciliary dyskinesia 14
- p.Ala202Thr Multiple submitters primary ciliary dyskinesia
- p.Arg78His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg811His Multiple submitters primary ciliary dyskinesia
- p.Cys803Tyr Multiple submitters primary ciliary dyskinesia 14
- p.Gln478Arg Multiple submitters primary ciliary dyskinesia
- p.Lys336= Multiple submitters primary ciliary dyskinesia
- p.Ser201= Multiple submitters primary ciliary dyskinesia
- p.Ser888fs Multiple submitters primary ciliary dyskinesia
Likely benign 382
Showing the top 300 by review status; the full set is in the sitemap.
- c.1034+7A>T Multiple submitters primary ciliary dyskinesia
- c.2670-90T>C Multiple submitters
- c.357+8T>C Multiple submitters primary ciliary dyskinesia
- c.90+214A>T Multiple submitters
- c.930+17_930+18del Multiple submitters primary ciliary dyskinesia
- p.Arg103= Multiple submitters primary ciliary dyskinesia
- p.Arg621Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg629= Multiple submitters primary ciliary dyskinesia
- p.Asn331= Multiple submitters primary ciliary dyskinesia
- p.Asn537= Multiple submitters primary ciliary dyskinesia
- p.Asp99= Multiple submitters primary ciliary dyskinesia
- p.Glu47= Multiple submitters primary ciliary dyskinesia
- p.Glu636= Multiple submitters primary ciliary dyskinesia
- p.Glu823= Multiple submitters primary ciliary dyskinesia
- p.His519= Multiple submitters primary ciliary dyskinesia
- p.His519Asn Multiple submitters primary ciliary dyskinesia
- p.His85= Multiple submitters primary ciliary dyskinesia
- p.Ile273Thr Multiple submitters primary ciliary dyskinesia
- p.Ile89= Multiple submitters primary ciliary dyskinesia
- p.Leu158= Multiple submitters primary ciliary dyskinesia
- p.Leu468= Multiple submitters primary ciliary dyskinesia
- p.Leu9= Multiple submitters primary ciliary dyskinesia
- p.Phe783= Multiple submitters primary ciliary dyskinesia
- p.Ser3= Multiple submitters primary ciliary dyskinesia
- p.Ser704= Multiple submitters primary ciliary dyskinesia
- p.Ser782= Multiple submitters primary ciliary dyskinesia
- p.Thr413= Multiple submitters primary ciliary dyskinesia
- p.Thr760= Multiple submitters primary ciliary dyskinesia
- p.Thr789= Multiple submitters primary ciliary dyskinesia
- p.Tyr616= Multiple submitters primary ciliary dyskinesia
- p.Tyr781= Multiple submitters primary ciliary dyskinesia
- p.Val568= Multiple submitters primary ciliary dyskinesia
- c.1034+12A>G Single submitter primary ciliary dyskinesia
- c.1034+13C>G Single submitter primary ciliary dyskinesia
- c.1034+13C>T Single submitter primary ciliary dyskinesia
- c.1034+15A>G Single submitter primary ciliary dyskinesia
- c.1035-10C>A Single submitter primary ciliary dyskinesia
- c.1035-13A>G Single submitter primary ciliary dyskinesia
- c.1035-15A>G Single submitter primary ciliary dyskinesia
- c.1035-18G>A Single submitter primary ciliary dyskinesia
- c.1035-18G>T Single submitter primary ciliary dyskinesia
- c.1167+10A>G Single submitter primary ciliary dyskinesia
- c.1167+1258_1167+1270del Single submitter primary ciliary dyskinesia
- c.1167+16A>G Single submitter primary ciliary dyskinesia
- c.1167+205del Single submitter
- c.1167+8T>C Single submitter primary ciliary dyskinesia
- c.1168-10T>C Single submitter primary ciliary dyskinesia
- c.1168-17A>G Single submitter primary ciliary dyskinesia
- c.1168-18T>C Single submitter primary ciliary dyskinesia
- c.1168-6_1168-4del Single submitter primary ciliary dyskinesia
- c.1168-9C>T Single submitter primary ciliary dyskinesia
- c.1362+15T>C Single submitter primary ciliary dyskinesia
- c.1362+16A>G Single submitter primary ciliary dyskinesia
- c.1362+19A>C Single submitter primary ciliary dyskinesia
- c.1362+20A>T Single submitter primary ciliary dyskinesia
- c.1363-12_1363-11insT Single submitter primary ciliary dyskinesia
- c.1363-12A>T Single submitter primary ciliary dyskinesia
- c.1363-13T>A Single submitter primary ciliary dyskinesia
- c.1363-17_1363-16insC Single submitter primary ciliary dyskinesia
- c.1363-7_1363-6del Single submitter primary ciliary dyskinesia
- c.1363-8T>G Single submitter primary ciliary dyskinesia
- c.1363-9C>A Single submitter primary ciliary dyskinesia
- c.1527+11C>T Single submitter primary ciliary dyskinesia
- c.1527+18C>T Single submitter primary ciliary dyskinesia
- c.1528-10T>C Single submitter primary ciliary dyskinesia
- c.1528-11_1528-10del Single submitter primary ciliary dyskinesia
- c.1528-12T>A Single submitter primary ciliary dyskinesia
- c.1528-17T>C Single submitter primary ciliary dyskinesia
- c.1528-19C>A Single submitter primary ciliary dyskinesia
- c.1528-4G>T Single submitter primary ciliary dyskinesia
- c.1528-6T>A Single submitter primary ciliary dyskinesia
- c.1665+110A>G Single submitter
- c.1665+20A>C Single submitter primary ciliary dyskinesia
- c.1665+7T>C Single submitter primary ciliary dyskinesia
- c.1665+9A>G Single submitter primary ciliary dyskinesia
- c.1666-10A>G Single submitter primary ciliary dyskinesia
- c.1666-11T>A Single submitter primary ciliary dyskinesia
- c.1666-153del Single submitter
- c.1666-58del Single submitter
- c.1666-66T>G Single submitter
- c.1666-8G>A Single submitter primary ciliary dyskinesia
- c.1666-8G>T Single submitter primary ciliary dyskinesia
- c.1666-9C>T Single submitter primary ciliary dyskinesia
- c.1874+89C>G Single submitter
- c.1875-10T>A Single submitter primary ciliary dyskinesia
- c.1875-14_1875-13del Single submitter primary ciliary dyskinesia
- c.1875-14C>T Single submitter primary ciliary dyskinesia
- c.1875-17T>A Single submitter primary ciliary dyskinesia
- c.1875-20del Single submitter primary ciliary dyskinesia
- c.1875-9T>C Single submitter primary ciliary dyskinesia
- c.1998+10A>G Single submitter primary ciliary dyskinesia
- c.1998+13_1998+16del Single submitter primary ciliary dyskinesia
- c.1998+14A>G Single submitter primary ciliary dyskinesia
- c.1998+14del Single submitter primary ciliary dyskinesia
- c.1998+19_1998+20del Single submitter primary ciliary dyskinesia
- c.1998+19C>T Single submitter primary ciliary dyskinesia
- c.1998+20A>G Single submitter primary ciliary dyskinesia
- c.1999-12T>C Single submitter primary ciliary dyskinesia
- c.1999-8C>T Single submitter primary ciliary dyskinesia
- c.1999-97T>C Single submitter
- c.210+12G>T Single submitter primary ciliary dyskinesia
- c.210+17T>C Single submitter primary ciliary dyskinesia
- c.210+20T>A Single submitter primary ciliary dyskinesia
- c.210+20T>G Single submitter primary ciliary dyskinesia
- c.210+8A>G Single submitter primary ciliary dyskinesia
- c.210+9A>C Single submitter primary ciliary dyskinesia
- c.211-13del Single submitter primary ciliary dyskinesia
- c.211-13T>G Single submitter primary ciliary dyskinesia
- c.211-14G>T Single submitter primary ciliary dyskinesia
- c.211-16G>A Single submitter primary ciliary dyskinesia
- c.211-6C>A Single submitter primary ciliary dyskinesia
- c.2158+13T>C Single submitter primary ciliary dyskinesia
- c.2158+19T>G Single submitter primary ciliary dyskinesia
- c.2158+9G>A Single submitter primary ciliary dyskinesia
- c.2159-13T>C Single submitter primary ciliary dyskinesia
- c.2159-14G>A Single submitter primary ciliary dyskinesia
- c.2159-14G>T Single submitter primary ciliary dyskinesia
- c.2159-15T>G Single submitter primary ciliary dyskinesia
- c.2159-4T>G Single submitter primary ciliary dyskinesia
- c.2159-9A>G Single submitter primary ciliary dyskinesia
- c.2265+11C>T Single submitter primary ciliary dyskinesia
- c.2265+14G>T Single submitter primary ciliary dyskinesia
- c.2265+15C>A Single submitter primary ciliary dyskinesia
- c.2265+16A>G Single submitter primary ciliary dyskinesia
- c.2265+262C>G Single submitter
- c.2266-13A>G Single submitter primary ciliary dyskinesia
- c.2266-16A>G Single submitter primary ciliary dyskinesia
- c.2406+11C>A Single submitter primary ciliary dyskinesia
- c.2406+7A>G Single submitter primary ciliary dyskinesia
- c.2406+9_2406+10del Single submitter primary ciliary dyskinesia
- c.2406+9A>C Single submitter primary ciliary dyskinesia
- c.2407-20T>A Single submitter primary ciliary dyskinesia
- c.2407-20T>C Single submitter primary ciliary dyskinesia
- c.2407-6C>T Single submitter primary ciliary dyskinesia
- c.2407-7C>T Single submitter primary ciliary dyskinesia
- c.2407-9T>C Single submitter primary ciliary dyskinesia
- c.2586+11A>G Single submitter primary ciliary dyskinesia
- c.2586+12C>A Single submitter primary ciliary dyskinesia
- c.2586+13C>A Single submitter primary ciliary dyskinesia
- c.2586+15_2586+17del Single submitter primary ciliary dyskinesia
- c.2586+20T>C Single submitter primary ciliary dyskinesia
- c.2586+7C>A Single submitter primary ciliary dyskinesia
- c.2587-12A>C Single submitter primary ciliary dyskinesia
- c.2587-17A>G Single submitter primary ciliary dyskinesia
- c.2587-20_2587-19delinsAG Single submitter primary ciliary dyskinesia
- c.2587-4C>T Single submitter primary ciliary dyskinesia
- c.2669+10G>C Single submitter primary ciliary dyskinesia
- c.2669+11G>A Single submitter primary ciliary dyskinesia
- c.2669+11G>C Single submitter primary ciliary dyskinesia
- c.2669+12del Single submitter primary ciliary dyskinesia
- c.2669+12G>A Single submitter primary ciliary dyskinesia
- c.2669+19A>G Single submitter primary ciliary dyskinesia
- c.2669+20A>G Single submitter primary ciliary dyskinesia
- c.2669+7G>A Single submitter primary ciliary dyskinesia
- c.2669+7G>T Single submitter primary ciliary dyskinesia
- c.2670-13G>T Single submitter primary ciliary dyskinesia
- c.2670-17T>G Single submitter primary ciliary dyskinesia
- c.357+11A>G Single submitter primary ciliary dyskinesia
- c.357+14T>C Single submitter primary ciliary dyskinesia
- c.358-14T>C Single submitter primary ciliary dyskinesia
- c.358-18T>C Single submitter primary ciliary dyskinesia
- c.358-19C>G Single submitter primary ciliary dyskinesia
- c.516+11A>G Single submitter primary ciliary dyskinesia
- c.516+12_516+14del Single submitter primary ciliary dyskinesia
- c.516+13A>G Single submitter primary ciliary dyskinesia
- c.516+14A>C Single submitter primary ciliary dyskinesia
- c.516+14A>G Single submitter primary ciliary dyskinesia
- c.516+16T>A Single submitter primary ciliary dyskinesia
- c.516+18G>A Single submitter primary ciliary dyskinesia
- c.516+18G>T Single submitter primary ciliary dyskinesia
- c.516+20A>T Single submitter primary ciliary dyskinesia
- c.516+8A>G Single submitter primary ciliary dyskinesia
- c.516+9T>C Single submitter primary ciliary dyskinesia
- c.517-13A>G Single submitter primary ciliary dyskinesia
- c.517-14T>C Single submitter primary ciliary dyskinesia
- c.517-15A>G Single submitter primary ciliary dyskinesia
- c.517-17A>G Single submitter primary ciliary dyskinesia
- c.517-18T>C Single submitter primary ciliary dyskinesia
- c.517-7A>T Single submitter primary ciliary dyskinesia
- c.517-96_517-91del Single submitter
- c.609+14A>C Single submitter primary ciliary dyskinesia
- c.609+15G>T Single submitter primary ciliary dyskinesia
- c.609+16A>G Single submitter primary ciliary dyskinesia
- c.610-15C>T Single submitter primary ciliary dyskinesia
- c.610-16G>T Single submitter primary ciliary dyskinesia
- c.610-20C>T Single submitter primary ciliary dyskinesia
- c.610-7T>C Single submitter primary ciliary dyskinesia
- c.610-8_610-5del Single submitter primary ciliary dyskinesia
- c.610-9G>A Single submitter primary ciliary dyskinesia
- c.610-9G>C Single submitter primary ciliary dyskinesia
- c.738+11T>C Single submitter primary ciliary dyskinesia
- c.738+7T>C Single submitter primary ciliary dyskinesia
- c.739-13G>A Single submitter primary ciliary dyskinesia
- c.739-17_739-16del Single submitter primary ciliary dyskinesia
- c.739-19A>G Single submitter primary ciliary dyskinesia
- c.739-4C>G Single submitter primary ciliary dyskinesia
- c.739-4C>T Single submitter primary ciliary dyskinesia
- c.90+12T>A Single submitter primary ciliary dyskinesia
- c.90+15A>G Single submitter primary ciliary dyskinesia
- c.90+16G>T Single submitter primary ciliary dyskinesia
- c.90+17C>G Single submitter primary ciliary dyskinesia
- c.90+7T>A Single submitter primary ciliary dyskinesia
- c.90+7T>G Single submitter primary ciliary dyskinesia
- c.91-17G>A Single submitter primary ciliary dyskinesia
- c.91-20A>G Single submitter primary ciliary dyskinesia
- c.91-4A>G Single submitter primary ciliary dyskinesia
- c.930+125dup Single submitter
- c.930+12C>A Single submitter primary ciliary dyskinesia
- c.930+14A>C Single submitter primary ciliary dyskinesia
- c.930+9A>G Single submitter primary ciliary dyskinesia
- c.930+9A>T Single submitter primary ciliary dyskinesia
- c.931-10TAA[3] Single submitter primary ciliary dyskinesia
- c.931-16G>A Single submitter primary ciliary dyskinesia
- c.931-19T>C Single submitter primary ciliary dyskinesia
- c.931-20G>C Single submitter primary ciliary dyskinesia
- c.931-20G>T Single submitter primary ciliary dyskinesia
- c.931-9A>G Single submitter primary ciliary dyskinesia
- c.*325C>T Single submitter primary ciliary dyskinesia 14
- p.Ala109= Single submitter primary ciliary dyskinesia
- p.Ala142= Single submitter primary ciliary dyskinesia
- p.Ala145= Single submitter primary ciliary dyskinesia
- p.Ala202= Single submitter primary ciliary dyskinesia
- p.Ala296= Single submitter primary ciliary dyskinesia
- p.Ala479= Single submitter primary ciliary dyskinesia
- p.Ala550= Single submitter primary ciliary dyskinesia
- p.Ala579= Single submitter primary ciliary dyskinesia
- p.Ala694= Single submitter primary ciliary dyskinesia
- p.Ala735= Single submitter primary ciliary dyskinesia
- p.Ala88= Single submitter primary ciliary dyskinesia
- p.Ala90= Single submitter primary ciliary dyskinesia
- p.Arg463= Single submitter primary ciliary dyskinesia
- p.Arg572= Single submitter primary ciliary dyskinesia
- p.Arg599= Single submitter primary ciliary dyskinesia
- p.Arg641= Single submitter primary ciliary dyskinesia
- p.Arg78= Single submitter primary ciliary dyskinesia
- p.Arg876His Single submitter primary ciliary dyskinesia ⚠
- p.Asn120= Single submitter primary ciliary dyskinesia
- p.Asn194= Single submitter primary ciliary dyskinesia
- p.Asn21= Single submitter primary ciliary dyskinesia
- p.Asn218= Single submitter primary ciliary dyskinesia
- p.Asn24= Single submitter primary ciliary dyskinesia
- p.Asn243= Single submitter primary ciliary dyskinesia
- p.Asn376= Single submitter primary ciliary dyskinesia
- p.Asn534= Single submitter primary ciliary dyskinesia
- p.Asn623= Single submitter primary ciliary dyskinesia
- p.Asn640= Single submitter primary ciliary dyskinesia
- p.Asn707= Single submitter
- p.Asn933= Single submitter primary ciliary dyskinesia
- p.Asp154= Single submitter primary ciliary dyskinesia
- p.Asp167= Single submitter primary ciliary dyskinesia
- p.Asp238= Single submitter primary ciliary dyskinesia
- p.Asp287= Single submitter primary ciliary dyskinesia
- p.Asp762= Single submitter primary ciliary dyskinesia
- p.Asp818= Single submitter primary ciliary dyskinesia
- p.Asp839= Single submitter primary ciliary dyskinesia
- p.Asp844= Single submitter primary ciliary dyskinesia
- p.Cys244Arg Single submitter primary ciliary dyskinesia
- p.Cys73= Single submitter primary ciliary dyskinesia
- p.Gln140= Single submitter primary ciliary dyskinesia
- p.Gln306= Single submitter primary ciliary dyskinesia
- p.Gln591= Single submitter primary ciliary dyskinesia
- p.Gln728= Single submitter primary ciliary dyskinesia
- p.Gln792= Single submitter primary ciliary dyskinesia
- p.Gln91= Single submitter primary ciliary dyskinesia
- p.Glu12= Single submitter primary ciliary dyskinesia
- p.Glu144= Single submitter primary ciliary dyskinesia
- p.Glu184= Single submitter primary ciliary dyskinesia
- p.Glu222= Single submitter primary ciliary dyskinesia
- p.Glu257= Single submitter primary ciliary dyskinesia
- p.Glu272= Single submitter primary ciliary dyskinesia
- p.Glu354= Single submitter primary ciliary dyskinesia
- p.Glu362= Single submitter primary ciliary dyskinesia
- p.Glu383= Single submitter primary ciliary dyskinesia
- p.Glu412= Single submitter primary ciliary dyskinesia
- p.Glu44= Single submitter primary ciliary dyskinesia
- p.Glu502= Single submitter primary ciliary dyskinesia
- p.Glu525= Single submitter primary ciliary dyskinesia
- p.Glu567= Single submitter primary ciliary dyskinesia
- p.Glu630= Single submitter primary ciliary dyskinesia
- p.Glu655= Single submitter primary ciliary dyskinesia
- p.Glu656= Single submitter primary ciliary dyskinesia
- p.Glu673= Single submitter primary ciliary dyskinesia
- p.Glu724= Single submitter primary ciliary dyskinesia
- p.Glu765= Single submitter primary ciliary dyskinesia
- p.Glu77= Single submitter primary ciliary dyskinesia
- p.Glu8= Single submitter primary ciliary dyskinesia
- p.Glu851= Single submitter primary ciliary dyskinesia
- p.Glu908= Single submitter primary ciliary dyskinesia
- p.Gly274= Single submitter primary ciliary dyskinesia
- p.Gly400= Single submitter primary ciliary dyskinesia
- p.Gly470= Single submitter primary ciliary dyskinesia
- p.Gly95= Single submitter primary ciliary dyskinesia
- p.His340= Single submitter primary ciliary dyskinesia
- p.His835= Single submitter primary ciliary dyskinesia
- p.Ile241= Single submitter primary ciliary dyskinesia
- p.Ile355= Single submitter primary ciliary dyskinesia
- p.Ile540= Single submitter primary ciliary dyskinesia
- p.Ile855= Single submitter primary ciliary dyskinesia
- p.Leu143= Single submitter primary ciliary dyskinesia
- p.Leu160= Single submitter primary ciliary dyskinesia
Uncertain significance 276
- c.1528-3C>T Multiple submitters primary ciliary dyskinesia
- c.1665+3G>A Multiple submitters primary ciliary dyskinesia
- c.1665+5A>G Multiple submitters primary ciliary dyskinesia 14
- c.2406+5C>T Multiple submitters primary ciliary dyskinesia
- p.Ala142Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala157Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala768Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg103Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg214Cys Multiple submitters primary ciliary dyskinesia 14 ⚠
- p.Arg214His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg463Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg463Trp Multiple submitters primary ciliary dyskinesia 14 ⚠
- p.Arg46Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg629Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg811Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg829Cys Multiple submitters primary ciliary dyskinesia 14 ⚠
- p.Arg876Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn21Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp99Glu Multiple submitters primary ciliary dyskinesia ⚠
- p.Gln669Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Gln711Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Gln746His Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu184Ala Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu23Ala Multiple submitters primary ciliary dyskinesia 14 ⚠
- p.Glu23del Multiple submitters primary ciliary dyskinesia 14
- p.Glu272Asp Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu28Ala Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu408Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu416Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu851Asp Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly274Glu Multiple submitters primary ciliary dyskinesia 14 ⚠
- p.Gly654Arg Multiple submitters primary ciliary dyskinesia 14 ⚠
- p.His152Pro Multiple submitters primary ciliary dyskinesia ⚠
- p.His884Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile111Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile224Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile603Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile764Thr Multiple submitters primary ciliary dyskinesia 14 ⚠
- p.Ile852Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu132Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu547Phe Multiple submitters CCDC39-related disorder ⚠
- p.Leu563Phe Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu796Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Lys265Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Lys87Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Met368Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro18Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro912Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro921Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser3Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser3Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser453Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser496Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser719Pro Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser881Phe Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser920Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr230Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr343Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr789Met Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr872Lys Multiple submitters primary ciliary dyskinesia 14 ⚠
- p.Val701Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Val771Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Val934_Lys935insVal Multiple submitters primary ciliary dyskinesia 14
- c.1167+1248A>G Single submitter primary ciliary dyskinesia
- c.1167+3A>G Single submitter primary ciliary dyskinesia
- c.1168-14A>G Single submitter primary ciliary dyskinesia
- c.1999-3T>C Single submitter primary ciliary dyskinesia
- c.2158+6T>C Single submitter primary ciliary dyskinesia
- c.2266-3C>G Single submitter primary ciliary dyskinesia
- c.2406+2dup Single submitter primary ciliary dyskinesia
- c.2406+6G>A Single submitter primary ciliary dyskinesia
- c.2587-5T>A Single submitter primary ciliary dyskinesia
- c.2670-10T>G Single submitter primary ciliary dyskinesia
- c.2670-14G>A Single submitter primary ciliary dyskinesia
- c.516+11A>T Single submitter primary ciliary dyskinesia 14
- c.609+3T>C Single submitter primary ciliary dyskinesia
- c.609+5G>C Single submitter primary ciliary dyskinesia
- c.739-7A>G Single submitter primary ciliary dyskinesia
- c.930+3A>G Single submitter
- c.-80T>C Single submitter primary ciliary dyskinesia 14
- c.*134A>T Single submitter primary ciliary dyskinesia 14
- c.*147G>A Single submitter primary ciliary dyskinesia 14
- c.*157T>C Single submitter primary ciliary dyskinesia 14
- c.*161T>A Single submitter primary ciliary dyskinesia 14
- c.*229G>A Single submitter primary ciliary dyskinesia 14
- c.*313C>T Single submitter primary ciliary dyskinesia 14
- c.*325C>A Single submitter primary ciliary dyskinesia 14
- c.*373G>A Single submitter primary ciliary dyskinesia 14
- c.*405A>G Single submitter primary ciliary dyskinesia 14
- c.*478G>A Single submitter primary ciliary dyskinesia 14
- c.*533A>C Single submitter primary ciliary dyskinesia 14
- c.*538A>C Single submitter primary ciliary dyskinesia 14
- c.*539C>A Single submitter primary ciliary dyskinesia 14
- c.*572G>T Single submitter primary ciliary dyskinesia 14
- c.*643C>T Single submitter primary ciliary dyskinesia 14
- c.*660A>G Single submitter primary ciliary dyskinesia 14
- c.*698A>G Single submitter primary ciliary dyskinesia 14
- c.*734T>C Single submitter primary ciliary dyskinesia 14
- c.*791C>T Single submitter primary ciliary dyskinesia 14
- c.*841C>T Single submitter primary ciliary dyskinesia 14
- c.*842A>G Single submitter primary ciliary dyskinesia 14
- p.Ala125Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala142Val Single submitter primary ciliary dyskinesia 14 ⚠
- p.Ala145Pro Single submitter primary ciliary dyskinesia ⚠
- p.Ala209Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ala286Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ala418Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ala479Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala595Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala611Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala694Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala780Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala90Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala90Val Single submitter primary ciliary dyskinesia ⚠
- p.Arg103Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg103Pro Single submitter primary ciliary dyskinesia ⚠
- p.Arg172Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg180Ile Single submitter primary ciliary dyskinesia ⚠
- p.Arg214Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg288Cys Single submitter primary ciliary dyskinesia 14 ⚠
- p.Arg329Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg345Lys Single submitter ⚠
- p.Arg345Ser Single submitter primary ciliary dyskinesia ⚠
- p.Arg38Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg51Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg51Leu Single submitter primary ciliary dyskinesia ⚠
- p.Arg542Ile Single submitter primary ciliary dyskinesia ⚠
- p.Arg570Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg570Leu Single submitter primary ciliary dyskinesia ⚠
- p.Arg599Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg631Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg631Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg641Lys Single submitter primary ciliary dyskinesia ⚠
- p.Arg745Lys Single submitter primary ciliary dyskinesia ⚠
- p.Arg78Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg829Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg829His Single submitter primary ciliary dyskinesia ⚠
- p.Arg923Lys Single submitter primary ciliary dyskinesia ⚠
- p.Asn194Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn218Asp Single submitter primary ciliary dyskinesia ⚠
- p.Asn260Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn275Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn276Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn319Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn331Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Asn53His Single submitter primary ciliary dyskinesia ⚠
- p.Asn770Asp Single submitter primary ciliary dyskinesia ⚠
- p.Asp130Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp130Gly Single submitter primary ciliary dyskinesia ⚠
- p.Asp130Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Asp167Glu Single submitter primary ciliary dyskinesia ⚠
- p.Asp240His Single submitter primary ciliary dyskinesia ⚠
- p.Asp312Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Asp36Gly Single submitter primary ciliary dyskinesia ⚠
- p.Asp441Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp541Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp541His Single submitter primary ciliary dyskinesia ⚠
- p.Asp762Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp818Val Single submitter primary ciliary dyskinesia ⚠
- p.Asp99His Single submitter primary ciliary dyskinesia ⚠
- p.Gln187Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gln221Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gln253Glu Single submitter primary ciliary dyskinesia ⚠
- p.Gln298Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gln410Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gln448His Single submitter primary ciliary dyskinesia ⚠
- p.Gln454= Single submitter primary ciliary dyskinesia 14
- p.Gln728Arg Single submitter primary ciliary dyskinesia ⚠
- p.Glu12Gly Single submitter primary ciliary dyskinesia ⚠
- p.Glu184Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu222del Single submitter primary ciliary dyskinesia
- p.Glu278Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu310Gly Single submitter Respiratory ciliopathies including non-CF bronchiectasis ⚠
- p.Glu342Gly Single submitter primary ciliary dyskinesia ⚠
- p.Glu362Gly Single submitter primary ciliary dyskinesia ⚠
- p.Glu378Gly Single submitter primary ciliary dyskinesia ⚠
- p.Glu385Val Single submitter primary ciliary dyskinesia ⚠
- p.Glu598Gly Single submitter primary ciliary dyskinesia ⚠
- p.Glu630Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu724Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu791Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu8Gln Single submitter primary ciliary dyskinesia ⚠
- p.Gly400Ser Single submitter primary ciliary dyskinesia ⚠
- p.Gly874= Single submitter primary ciliary dyskinesia
- p.Gly919Ser Single submitter primary ciliary dyskinesia ⚠
- p.His10Leu Single submitter primary ciliary dyskinesia ⚠
- p.His300Arg Single submitter primary ciliary dyskinesia 14 ⚠
- p.His300Asn Single submitter primary ciliary dyskinesia ⚠
- p.His340Arg Single submitter primary ciliary dyskinesia ⚠
- p.His509Tyr Single submitter primary ciliary dyskinesia ⚠
- p.His884Arg Single submitter primary ciliary dyskinesia ⚠
- p.His884Leu Single submitter primary ciliary dyskinesia ⚠
- p.Ile111Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ile122Val Single submitter primary ciliary dyskinesia ⚠
- p.Ile231Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ile241Val Single submitter primary ciliary dyskinesia ⚠
- p.Ile472del Single submitter primary ciliary dyskinesia
- p.Ile484Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ile603Leu Single submitter primary ciliary dyskinesia ⚠
- p.Ile855Ser Single submitter primary ciliary dyskinesia ⚠
- p.Leu143Ser Single submitter primary ciliary dyskinesia ⚠
- p.Leu206Phe Single submitter primary ciliary dyskinesia ⚠
- p.Leu223Arg Single submitter primary ciliary dyskinesia ⚠
- p.Leu261Trp Single submitter primary ciliary dyskinesia ⚠
- p.Leu440Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu445Trp Single submitter primary ciliary dyskinesia ⚠
- p.Leu487Pro Single submitter primary ciliary dyskinesia ⚠
- p.Leu536Ile Single submitter primary ciliary dyskinesia ⚠
- p.Leu538Arg Single submitter primary ciliary dyskinesia ⚠
- p.Leu566Phe Single submitter primary ciliary dyskinesia ⚠
- p.Leu566Pro Single submitter primary ciliary dyskinesia ⚠
- p.Leu583Ile Single submitter primary ciliary dyskinesia ⚠
- p.Leu583Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu72Pro Single submitter primary ciliary dyskinesia ⚠
- p.Leu750Val Single submitter primary ciliary dyskinesia ⚠
- p.Lys190Asn Single submitter primary ciliary dyskinesia ⚠
- p.Lys215Thr Single submitter primary ciliary dyskinesia ⚠
- p.Lys236Arg Single submitter primary ciliary dyskinesia ⚠
- p.Lys25Glu Single submitter primary ciliary dyskinesia ⚠
- p.Lys263Glu Single submitter primary ciliary dyskinesia ⚠
- p.Lys289Ile Single submitter primary ciliary dyskinesia ⚠
- p.Lys334Arg Single submitter primary ciliary dyskinesia ⚠
- p.Lys545Glu Single submitter primary ciliary dyskinesia ⚠
- p.Lys569Arg Single submitter primary ciliary dyskinesia ⚠
- p.Lys604Arg Single submitter ⚠
- p.Lys607Glu Single submitter primary ciliary dyskinesia ⚠
- p.Lys726Asn Single submitter primary ciliary dyskinesia ⚠
- p.Lys805Thr Single submitter primary ciliary dyskinesia ⚠
- p.Met609Val Single submitter primary ciliary dyskinesia ⚠
- p.Met841Lys Single submitter primary ciliary dyskinesia ⚠
- p.Phe123Val Single submitter primary ciliary dyskinesia ⚠
- p.Phe456Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro718Ala Single submitter primary ciliary dyskinesia ⚠
- p.Pro718Gln Single submitter primary ciliary dyskinesia ⚠
- p.Pro718Ser Single submitter primary ciliary dyskinesia 14 ⚠
- p.Pro794Arg Single submitter primary ciliary dyskinesia ⚠
- p.Pro794Leu Single submitter primary ciliary dyskinesia ⚠
- p.Ser116Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ser155Arg Single submitter primary ciliary dyskinesia ⚠
- p.Ser271Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ser2Asn Single submitter primary ciliary dyskinesia ⚠
- p.Ser322Cys Single submitter primary ciliary dyskinesia ⚠
- p.Ser429Pro Single submitter primary ciliary dyskinesia 14 ⚠
- p.Ser523Asn Single submitter primary ciliary dyskinesia ⚠
- p.Ser543Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ser625Asn Single submitter primary ciliary dyskinesia ⚠
- p.Ser720Asn Single submitter primary ciliary dyskinesia ⚠
- p.Ser720Ile Single submitter primary ciliary dyskinesia ⚠
- p.Ser782Leu Single submitter primary ciliary dyskinesia ⚠
- p.Ser786Ile Single submitter primary ciliary dyskinesia 14 ⚠
- p.Ser82Asn Single submitter primary ciliary dyskinesia ⚠
- p.Ser915Cys Single submitter primary ciliary dyskinesia ⚠
- p.Ser939Asn Single submitter primary ciliary dyskinesia ⚠
- p.Thr126Ile Single submitter primary ciliary dyskinesia ⚠
- p.Thr255Met Single submitter primary ciliary dyskinesia ⚠
- p.Thr277Ile Single submitter primary ciliary dyskinesia ⚠
- p.Thr302Ala Single submitter primary ciliary dyskinesia ⚠
- p.Thr358Ala Single submitter primary ciliary dyskinesia ⚠
- p.Thr413Arg Single submitter primary ciliary dyskinesia ⚠
- p.Thr497Ala Single submitter primary ciliary dyskinesia ⚠
- p.Thr497Ile Single submitter primary ciliary dyskinesia ⚠
- p.Thr807Ile Single submitter primary ciliary dyskinesia ⚠
- p.Thr80Ala Single submitter primary ciliary dyskinesia ⚠
- p.Thr816Pro Single submitter primary ciliary dyskinesia ⚠
- p.Thr850Ile Single submitter primary ciliary dyskinesia ⚠
- p.Tyr642Cys Single submitter primary ciliary dyskinesia ⚠
- p.Tyr781Phe Single submitter primary ciliary dyskinesia ⚠
- p.Val285Leu Single submitter primary ciliary dyskinesia ⚠
- p.Val401Ala Single submitter primary ciliary dyskinesia ⚠
- p.Val701Met Single submitter primary ciliary dyskinesia 14 ⚠
- p.Val843Ala Single submitter primary ciliary dyskinesia ⚠
- p.Val843Leu Single submitter primary ciliary dyskinesia ⚠
- p.Val906Ala Single submitter primary ciliary dyskinesia ⚠
- p.Val934Ile Single submitter primary ciliary dyskinesia 14 ⚠
- p.Val97Ala Single submitter primary ciliary dyskinesia ⚠
- p.Glu847Gly No assertion criteria Fibrous Sheath Dysplasia ⚠