DNAI1 — 1027 ClinVar variants
All ClinVar germline DNAI1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 282 flagged for review →
71 Pathogenic · 30 Pathogenic/Likely pathogenic · 61 Likely pathogenic · 40 Conflicting · 26 Benign · 14 Benign/Likely benign · 500 Likely benign · 285 Uncertain significance
Full DNAI1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 282
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 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
DNAI1 p.Gly497Asp
Pathogenic/Likely pathogenic
Multiple submitters
DNAI1-related disorder
-
DNAI1 p.Gly497Val
Pathogenic
Single submitter
primary ciliary dyskinesia
Predictors agree, ClinVar conflicts 17
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DNAI1 p.Ala349Glu
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Arg332Ser
Conflicting
Single submitter
primary ciliary dyskinesia 1
-
DNAI1 p.Asn220Asp
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Asp40Gly
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Cys388Tyr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Cys559Tyr
Conflicting
Single submitter
DNAI1-related disorder
-
DNAI1 p.Gln16Arg
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Gly402Ser
Conflicting
Single submitter
primary ciliary dyskinesia 1
-
DNAI1 p.Gly406Ser
Conflicting
Single submitter
primary ciliary dyskinesia 1
-
DNAI1 p.His14Tyr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Ile508Thr
Conflicting
Single submitter
primary ciliary dyskinesia 1
-
DNAI1 p.Leu370Pro
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Lys184Arg
Conflicting
Single submitter
primary ciliary dyskinesia 1
-
DNAI1 p.Trp568Ser
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Val335Phe
Conflicting
Single submitter
primary ciliary dyskinesia 1
-
DNAI1 p.Val399Met
Conflicting
Single submitter
primary ciliary dyskinesia 1
-
DNAI1 p.Val408Met
Conflicting
Single submitter
primary ciliary dyskinesia
Predictors lean, ClinVar uncertain 143
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DNAI1 p.Ala538Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Ala591Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Ala8Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 1
-
DNAI1 p.Arg120Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 1
-
DNAI1 p.Arg264Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Arg362Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Arg68Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Asp125Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Asp307Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Gly402Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 1
-
DNAI1 p.Gly490Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Gly605Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.His431Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Lys184Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Lys469Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Met263Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Pro112Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Pro575Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Pro642Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Ser418Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Ser453Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 1
-
DNAI1 p.Ala129Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 1
-
DNAI1 p.Ala168Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Ala233Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Ala255Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Ala47Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Ala683Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Ala77Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Arg124His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Arg186Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Arg207Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Arg663Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Arg68Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia 1
-
DNAI1 p.Asn109Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Asn220Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Asn622Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Asn638Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Asn98Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Asp116Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Asp162Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Asp301Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Asp306Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Asp648Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Gln16His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Gln212His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Gln272Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Gln292His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Gln315Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Gln675His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Glu140Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Glu146Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Glu61Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 1
-
DNAI1 p.Glu681Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Glu694Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Gly363Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Gly363Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Gly36Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Gly38Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Gly677Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 1
-
DNAI1 p.Gly95Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.His122Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.His505Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.His608Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.His641Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.His76Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Ile111Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Ile111Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Ile410Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAI1 p.Ile521Ser Uncertain significance Single submitter
-
DNAI1 p.Ile567Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Ile644Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Ile654Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Leu319Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Leu513Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Leu55Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Leu658Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Lys26Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Lys331Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Lys616Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Met261Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Met263Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Met269Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Met541Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Met576Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Phe422Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Phe452Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Phe556Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Phe86Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Pro157Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Pro180Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Pro216Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Pro253Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia 1
- DNAI1 p.Pro253Ser Uncertain significance Single submitter
-
DNAI1 p.Pro3Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Pro51His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Pro624Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Pro9Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Ser159Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Ser17Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Ser361Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Ser374Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Ser456Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Ser45Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Ser595Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Thr201Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAI1 p.Thr252Ile Uncertain significance Single submitter
-
DNAI1 p.Thr267Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Thr33Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia 1
-
DNAI1 p.Thr596Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Trp340Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Trp590Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Tyr304Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Tyr91Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Val102Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Val135Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Val137Met
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Val163Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Val386Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Val546Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Val585Met
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Val692Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Val82Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Ala166Pro
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Asn143Asp
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Asn193Lys
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Asn341Ser
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Asp147Glu
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Glu133Asp
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Glu133Gly
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.His14Gln
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Ile18Met
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Ile20Val
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Leu276Val
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Leu413Pro
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Lys181Glu
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Lys343Arg
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Lys698Glu
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Met263Leu
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Met358Leu
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Pro321Gln
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Ser361Asn
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Thr155Ser
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Thr500Ala
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
Predictors split 120
The independent predictors disagree with each other — read with care.
-
DNAI1 p.Ala538Thr
Pathogenic
Multiple submitters
Respiratory ciliopathies including non-CF bronchiectasis
-
DNAI1 p.Ala60Val
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Ala679Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Ala683Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Arg119Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Arg120Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Arg650Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Asn226His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Asn638Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Asp28Tyr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Asp59Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Gly499Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.His608Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 1
-
DNAI1 p.Ile391Met
Likely benign
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Ile609Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Ile645Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 1
-
DNAI1 p.Ile682Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Lys15Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Lys243Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Lys667Glu
Likely benign
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Pro215Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Pro217Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Pro678Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Ser159Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 1
-
DNAI1 p.Ser525Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Ser85Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Thr189Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Thr535Asn
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Tyr104His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 1
-
DNAI1 p.Tyr378Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Tyr536Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Tyr579Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Val335Ile
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia
-
DNAI1 p.Ala101Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Ala282Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Ala299Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAI1 p.Ala409Thr Uncertain significance Single submitter
-
DNAI1 p.Ala60Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Ala77Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Arg119Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia 1
-
DNAI1 p.Arg124Cys
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Arg313Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Arg313Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Arg332Cys
Likely benign
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Arg332His
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Arg362Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Arg663Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Asn204Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Asn327Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Asn383Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Asn412Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Asp114Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAI1 p.Asp314His Uncertain significance Single submitter
-
DNAI1 p.Asp394Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Asp433His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Asp443Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Asp59Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Cys339Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Gln447Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Gln531Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Glu174Lys
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Glu210Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Glu237Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Glu239Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Glu34Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 1
-
DNAI1 p.Gly118Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Gly385Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Gly497Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.His608Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.His76Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Leu238Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Lys113Arg
Likely benign
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Lys240Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Lys243Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Lys247Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Lys260Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Lys520Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Phe422Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Phe66Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Pro205Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 1
-
DNAI1 p.Pro396Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Ser268Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Ser334Phe
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Ser382Asn
Conflicting
Single submitter
primary ciliary dyskinesia 1
-
DNAI1 p.Ser432Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Ser462Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Ser529Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Thr173Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Thr213Met
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Thr252Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Thr336Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Thr464Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Thr485Met
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Thr535Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Thr571Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Thr58Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Tyr231Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Tyr305Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Val454Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Val454Met
Uncertain significance
Single submitter
primary ciliary dyskinesia 1
-
DNAI1 p.Val466Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Val546Met
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Val565Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Val565Met
Conflicting
Single submitter
primary ciliary dyskinesia 1
-
DNAI1 p.Val601Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI1 p.Ala683Gly
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Asn203Asp
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Asn291Ser
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Gln79His
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Glu242Asp
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Ile644Met
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Ile94Thr
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Leu279Phe
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Pro183Leu
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Pro678Thr
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Pro93Ser
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Ser428Phe
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Tyr231His
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Tyr231Phe
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI1 p.Tyr352Cys
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
All DNAI1 variants
Pathogenic 71
- c.1719-1G>A Multiple submitters primary ciliary dyskinesia
- c.48+2dup Multiple submitters Inborn genetic diseases
- p.Ala538Thr Multiple submitters Respiratory ciliopathies including non-CF bronchiectasis ⚠
- p.Asp296fs Multiple submitters primary ciliary dyskinesia
- p.Leu188_Thr189insTer Multiple submitters primary ciliary dyskinesia
- p.Ser547_Trp548insTer Multiple submitters primary ciliary dyskinesia
- p.Tyr397fs Multiple submitters primary ciliary dyskinesia
- c.1063+1G>T Single submitter primary ciliary dyskinesia
- c.1063+2T>C Single submitter primary ciliary dyskinesia
- c.1311+2T>A Single submitter primary ciliary dyskinesia 1
- c.1569+1G>A Single submitter primary ciliary dyskinesia
- c.1570-1G>A Single submitter Fetal anomalies with a likely genetic cause
- c.2001+1G>T Single submitter primary ciliary dyskinesia
- c.501+85G>C Single submitter
- c.622-2A>G Single submitter primary ciliary dyskinesia
- p.Ala223fs Single submitter primary ciliary dyskinesia
- p.Arg209Ter Single submitter primary ciliary dyskinesia
- p.Arg218fs Single submitter primary ciliary dyskinesia
- p.Asn630fs Single submitter primary ciliary dyskinesia
- p.Asp162fs Single submitter primary ciliary dyskinesia
- p.Asp53fs Single submitter primary ciliary dyskinesia
- p.Asp648fs Single submitter primary ciliary dyskinesia
- p.Cys559Ter Single submitter primary ciliary dyskinesia
- p.Gln182Ter Single submitter primary ciliary dyskinesia
- p.Gln212Ter Single submitter primary ciliary dyskinesia
- p.Gln272Ter Single submitter primary ciliary dyskinesia
- p.Gln531Ter Single submitter primary ciliary dyskinesia
- p.Glu156fs Single submitter primary ciliary dyskinesia
- p.Glu176_Leu177insTer Single submitter primary ciliary dyskinesia
- p.Glu176Ter Single submitter primary ciliary dyskinesia 1
- p.Glu287Ter Single submitter primary ciliary dyskinesia
- p.Glu65Ter Single submitter primary ciliary dyskinesia
- p.Gly402fs Single submitter primary ciliary dyskinesia
- p.Gly497Val Single submitter primary ciliary dyskinesia ⚠
- p.Gly89fs Single submitter primary ciliary dyskinesia
- p.His634fs Single submitter primary ciliary dyskinesia
- p.Ile230fs Single submitter primary ciliary dyskinesia
- p.Leu127Ter Single submitter primary ciliary dyskinesia
- p.Leu153Ter Single submitter primary ciliary dyskinesia
- p.Leu365fs Single submitter primary ciliary dyskinesia
- p.Leu55fs Single submitter primary ciliary dyskinesia
- p.Leu662fs Single submitter primary ciliary dyskinesia
- p.Lys15Ter Single submitter primary ciliary dyskinesia
- p.Lys240Ter Single submitter primary ciliary dyskinesia
- p.Lys414fs Single submitter primary ciliary dyskinesia
- p.Met1fs Single submitter primary ciliary dyskinesia
- p.Met1Val Single submitter primary ciliary dyskinesia
- p.Met289fs Single submitter primary ciliary dyskinesia
- p.Met358fs Single submitter primary ciliary dyskinesia
- p.Met511fs Single submitter primary ciliary dyskinesia
- p.Pro164fs Single submitter primary ciliary dyskinesia
- p.Pro376fs Single submitter primary ciliary dyskinesia
- p.Pro624fs Single submitter primary ciliary dyskinesia
- p.Ser115fs Single submitter primary ciliary dyskinesia
- p.Ser31Ter Single submitter primary ciliary dyskinesia
- p.Ser453fs Single submitter primary ciliary dyskinesia
- p.Ser462fs Single submitter primary ciliary dyskinesia
- p.Ser547fs Single submitter primary ciliary dyskinesia
- p.Thr318fs Single submitter primary ciliary dyskinesia
- p.Thr500fs Single submitter primary ciliary dyskinesia
- p.Thr574_Pro575delinsTer Single submitter primary ciliary dyskinesia
- p.Trp228Ter Single submitter primary ciliary dyskinesia
- p.Trp568Ter Single submitter primary ciliary dyskinesia
- p.Tyr304Ter Single submitter primary ciliary dyskinesia
- p.Tyr378Ter Single submitter primary ciliary dyskinesia
- p.Tyr397_Leu398delinsTer Single submitter primary ciliary dyskinesia
- p.Val135fs Single submitter primary ciliary dyskinesia
- p.Val438fs Single submitter primary ciliary dyskinesia
- p.Val49fs Single submitter primary ciliary dyskinesia
- p.Gly95fs No assertion criteria primary ciliary dyskinesia 1
- p.Thr553_Phe556del No assertion criteria primary ciliary dyskinesia 1
Pathogenic/Likely pathogenic 30
- c.1019+5G>C Multiple submitters primary ciliary dyskinesia 1
- c.1063+1G>A Multiple submitters primary ciliary dyskinesia
- c.1569+1G>T Multiple submitters primary ciliary dyskinesia
- c.180+1G>A Multiple submitters primary ciliary dyskinesia
- c.1818+1G>T Multiple submitters primary ciliary dyskinesia 1
- c.2001+1G>A Multiple submitters primary ciliary dyskinesia
- p.Ala47fs Multiple submitters primary ciliary dyskinesia
- p.Ala501fs Multiple submitters primary ciliary dyskinesia
- p.Ala60fs Multiple submitters primary ciliary dyskinesia
- p.Arg186fs Multiple submitters primary ciliary dyskinesia
- p.Asn450fs Multiple submitters primary ciliary dyskinesia
- p.Asp114fs Multiple submitters primary ciliary dyskinesia
- p.Asp509_Tyr510insTer Multiple submitters primary ciliary dyskinesia
- p.Asp562Asn Multiple submitters primary ciliary dyskinesia
- p.Gln200Ter Multiple submitters primary ciliary dyskinesia 1
- p.Glu133Ter Multiple submitters primary ciliary dyskinesia 1
- p.Gly497Asp Multiple submitters DNAI1-related disorder ⚠
- p.Gly515Ser Multiple submitters DNAI1-related disorder
- p.Leu177Ter Multiple submitters primary ciliary dyskinesia 1
- p.Phe451Tyr Multiple submitters primary ciliary dyskinesia
- p.Phe66Ter Multiple submitters primary ciliary dyskinesia
- p.Pro488fs Multiple submitters primary ciliary dyskinesia
- p.Pro52fs Multiple submitters primary ciliary dyskinesia
- p.Trp340Ter Multiple submitters primary ciliary dyskinesia
- p.Trp436Ter Multiple submitters primary ciliary dyskinesia
- p.Trp440Ter Multiple submitters primary ciliary dyskinesia 1
- p.Trp548Ter Multiple submitters primary ciliary dyskinesia
- p.Tyr404Ter Multiple submitters primary ciliary dyskinesia 1
- p.Tyr551Ter Multiple submitters primary ciliary dyskinesia
- p.Tyr91Ter Multiple submitters primary ciliary dyskinesia
Likely pathogenic 61
- c.1402-1G>A Multiple submitters primary ciliary dyskinesia
- c.1490-2A>G Multiple submitters primary ciliary dyskinesia
- c.1570-1G>T Multiple submitters primary ciliary dyskinesia
- c.1719-2A>G Multiple submitters primary ciliary dyskinesia
- c.817-2A>G Multiple submitters primary ciliary dyskinesia
- c.1020-1G>A Single submitter primary ciliary dyskinesia
- c.1064-1G>C Single submitter primary ciliary dyskinesia
- c.1311+1G>C Single submitter primary ciliary dyskinesia
- c.1311+2T>C Single submitter primary ciliary dyskinesia 1
- c.1312-2A>G Single submitter primary ciliary dyskinesia
- c.1401+1G>A Single submitter primary ciliary dyskinesia
- c.1489+2T>G Single submitter primary ciliary dyskinesia
- c.1490-2A>C Single submitter primary ciliary dyskinesia
- c.1718+1G>A Single submitter primary ciliary dyskinesia
- c.1718+2T>G Single submitter primary ciliary dyskinesia
- c.180+1G>T Single submitter primary ciliary dyskinesia
- c.180+2T>G Single submitter primary ciliary dyskinesia
- c.181-2A>T Single submitter primary ciliary dyskinesia
- c.1818+2T>A Single submitter primary ciliary dyskinesia
- c.1819-2A>G Single submitter primary ciliary dyskinesia
- c.2001+2T>G Single submitter primary ciliary dyskinesia
- c.261+2T>G Single submitter primary ciliary dyskinesia
- c.262-2A>G Single submitter primary ciliary dyskinesia
- c.389del Single submitter primary ciliary dyskinesia
- c.48+1G>C Single submitter primary ciliary dyskinesia
- c.48+1G>T Single submitter primary ciliary dyskinesia
- c.49-1G>C Single submitter primary ciliary dyskinesia
- c.501+1G>A Single submitter primary ciliary dyskinesia
- c.501+1G>T Single submitter primary ciliary dyskinesia
- c.621+1del Single submitter DNAI1-related disorder
- c.681+1G>A Single submitter primary ciliary dyskinesia
- c.682-1G>A Single submitter primary ciliary dyskinesia
- c.901+1G>A Single submitter primary ciliary dyskinesia
- c.901+1G>T Single submitter primary ciliary dyskinesia
- c.902-10T>A Single submitter primary ciliary dyskinesia 1
- c.902-2A>G Single submitter primary ciliary dyskinesia
- p.Ala538Val Single submitter primary ciliary dyskinesia
- p.Cys388Phe Single submitter primary ciliary dyskinesia
- p.Gln106fs Single submitter primary ciliary dyskinesia
- p.Gln623fs Single submitter primary ciliary dyskinesia
- p.Gln99Ter Single submitter primary ciliary dyskinesia
- p.Glu174fs Single submitter primary ciliary dyskinesia
- p.Gly402Cys Single submitter primary ciliary dyskinesia
- p.Gly402Val Single submitter primary ciliary dyskinesia
- p.Gly515fs Single submitter primary ciliary dyskinesia
- p.Ile138fs Single submitter primary ciliary dyskinesia
- p.Ile94fs Single submitter primary ciliary dyskinesia
- p.Leu338fs Single submitter primary ciliary dyskinesia 1
- p.Lys477fs Single submitter primary ciliary dyskinesia
- p.Lys506fs Single submitter primary ciliary dyskinesia
- p.Lys667fs Single submitter primary ciliary dyskinesia
- p.Phe452del Single submitter primary ciliary dyskinesia
- p.Pro253fs Single submitter primary ciliary dyskinesia
- p.Ser17fs Single submitter primary ciliary dyskinesia 1
- p.Thr155fs Single submitter primary ciliary dyskinesia
- p.Thr173fs Single submitter primary ciliary dyskinesia
- p.Trp563Ter Single submitter primary ciliary dyskinesia 1
- p.Tyr593Ter Single submitter primary ciliary dyskinesia 1
- p.Tyr617Ter Single submitter primary ciliary dyskinesia
- p.Tyr84Ter Single submitter primary ciliary dyskinesia 1
- p.Arg25fs No assertion criteria DNAI1-related disorder
Conflicting classifications of pathogenicity 40
- c.1020-14A>T Single submitter primary ciliary dyskinesia
- c.1063+19C>T Single submitter primary ciliary dyskinesia
- c.1401+3G>A Single submitter primary ciliary dyskinesia
- c.1489+8C>A Single submitter primary ciliary dyskinesia
- c.1719-11C>T Single submitter primary ciliary dyskinesia
- c.389-15C>T Single submitter primary ciliary dyskinesia
- c.389-1G>C Single submitter primary ciliary dyskinesia
- c.501+10A>C Single submitter primary ciliary dyskinesia 1
- c.81+5del Single submitter primary ciliary dyskinesia
- c.81+61A>G Single submitter primary ciliary dyskinesia
- p.Ala349Glu Single submitter primary ciliary dyskinesia ⚠
- p.Arg124Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg332His Single submitter primary ciliary dyskinesia ⚠
- p.Arg332Ser Single submitter primary ciliary dyskinesia 1 ⚠
- p.Asn220Asp Single submitter primary ciliary dyskinesia ⚠
- p.Asp40Gly Single submitter primary ciliary dyskinesia ⚠
- p.Cys388Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Cys559Tyr Single submitter DNAI1-related disorder ⚠
- p.Gln16Arg Single submitter primary ciliary dyskinesia ⚠
- p.Glu174Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu517= Single submitter primary ciliary dyskinesia
- p.Gly402Ser Single submitter primary ciliary dyskinesia 1 ⚠
- p.Gly406Ser Single submitter primary ciliary dyskinesia 1 ⚠
- p.His14Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Ile508Thr Single submitter primary ciliary dyskinesia 1 ⚠
- p.Ile643= Single submitter primary ciliary dyskinesia
- p.Leu370Pro Single submitter primary ciliary dyskinesia ⚠
- p.Leu57= Single submitter primary ciliary dyskinesia
- p.Leu688= Single submitter primary ciliary dyskinesia
- p.Lys184Arg Single submitter primary ciliary dyskinesia 1 ⚠
- p.Phe422del Single submitter primary ciliary dyskinesia
- p.Ser334Phe Single submitter primary ciliary dyskinesia ⚠
- p.Ser382Asn Single submitter primary ciliary dyskinesia 1 ⚠
- p.Thr213Met Single submitter primary ciliary dyskinesia ⚠
- p.Thr485Met Single submitter primary ciliary dyskinesia ⚠
- p.Trp568Ser Single submitter primary ciliary dyskinesia ⚠
- p.Val335Phe Single submitter primary ciliary dyskinesia 1 ⚠
- p.Val399Met Single submitter primary ciliary dyskinesia 1 ⚠
- p.Val408Met Single submitter primary ciliary dyskinesia ⚠
- p.Val565Met Single submitter primary ciliary dyskinesia 1 ⚠
Benign 26
- c.1019+118T>C Multiple submitters
- c.1019+42C>T Multiple submitters primary ciliary dyskinesia 1
- c.1489+130G>A Multiple submitters primary ciliary dyskinesia 1
- c.1819-251C>T Multiple submitters
- c.2001+19T>A Multiple submitters primary ciliary dyskinesia
- c.261+131C>T Multiple submitters
- c.902-125G>T Multiple submitters primary ciliary dyskinesia 1
- p.Gln99= Multiple submitters primary ciliary dyskinesia
- c.1020-5del Single submitter primary ciliary dyskinesia
- c.1020-5dup Single submitter primary ciliary dyskinesia
- c.1064-322C>T Single submitter
- c.1311+146A>G Single submitter
- c.1311+209T>C Single submitter
- c.1311+301C>T Single submitter
- c.1311+328C>T Single submitter
- c.1312-13del Single submitter primary ciliary dyskinesia
- c.1401+7A>G Single submitter primary ciliary dyskinesia
- c.1489+163G>C Single submitter
- c.1490-217G>A Single submitter
- c.1570-291A>G Single submitter
- c.262-12del Single submitter primary ciliary dyskinesia
- c.389-182G>A Single submitter
- c.48+215G>A Single submitter
- c.49-16del Single submitter primary ciliary dyskinesia
- c.81+20T>C Single submitter primary ciliary dyskinesia
- c.902-292T>G Single submitter
Benign/Likely benign 14
- c.1401+17G>A Multiple submitters primary ciliary dyskinesia
- p.Ala60Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala626= Multiple submitters primary ciliary dyskinesia
- p.Ala8Ser Multiple submitters primary ciliary dyskinesia
- p.Arg288Trp Multiple submitters primary ciliary dyskinesia
- p.Gln326His Multiple submitters primary ciliary dyskinesia
- p.Glu126= Multiple submitters primary ciliary dyskinesia
- p.His634= Multiple submitters primary ciliary dyskinesia
- p.His641= Multiple submitters primary ciliary dyskinesia 1
- p.Ile473Val Multiple submitters primary ciliary dyskinesia
- p.Thr213= Multiple submitters primary ciliary dyskinesia
- p.Thr535Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Val335Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Val487Gly Multiple submitters primary ciliary dyskinesia
Likely benign 500
Showing the top 300 by review status; the full set is in the sitemap.
- c.1064-20C>T Multiple submitters primary ciliary dyskinesia
- c.1064-306C>T Multiple submitters
- c.1064-7T>C Multiple submitters primary ciliary dyskinesia
- c.2002-5C>T Multiple submitters primary ciliary dyskinesia
- c.2002-8C>T Multiple submitters primary ciliary dyskinesia
- c.262-63G>A Multiple submitters
- c.501+16G>A Multiple submitters primary ciliary dyskinesia
- c.502-90G>A Multiple submitters
- c.902-110T>C Multiple submitters
- c.-178G>C Multiple submitters
- p.Ala308= Multiple submitters primary ciliary dyskinesia
- p.Ala501= Multiple submitters primary ciliary dyskinesia
- p.Ala613= Multiple submitters primary ciliary dyskinesia
- p.Ala626Val Multiple submitters primary ciliary dyskinesia
- p.Asn220= Multiple submitters primary ciliary dyskinesia
- p.Asn291= Multiple submitters primary ciliary dyskinesia
- p.Asn407= Multiple submitters primary ciliary dyskinesia
- p.Asp405= Multiple submitters primary ciliary dyskinesia
- p.Asp457= Multiple submitters primary ciliary dyskinesia
- p.Asp474= Multiple submitters primary ciliary dyskinesia
- p.Asp537= Multiple submitters primary ciliary dyskinesia
- p.Cys423= Multiple submitters primary ciliary dyskinesia
- p.Glu174= Multiple submitters primary ciliary dyskinesia
- p.Glu236= Multiple submitters primary ciliary dyskinesia
- p.Gly647= Multiple submitters primary ciliary dyskinesia
- p.His76= Multiple submitters primary ciliary dyskinesia
- p.Ile391Met Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile94= Multiple submitters primary ciliary dyskinesia
- p.Leu389= Multiple submitters primary ciliary dyskinesia
- p.Leu465= Multiple submitters primary ciliary dyskinesia
- p.Leu639= Multiple submitters primary ciliary dyskinesia
- p.Leu662= Multiple submitters primary ciliary dyskinesia
- p.Lys247= Multiple submitters primary ciliary dyskinesia
- p.Lys667Glu Multiple submitters primary ciliary dyskinesia ⚠
- p.Lys676= Multiple submitters primary ciliary dyskinesia
- p.Lys92= Multiple submitters primary ciliary dyskinesia
- p.Phe598= Multiple submitters primary ciliary dyskinesia
- p.Ser455= Multiple submitters primary ciliary dyskinesia
- p.Ser456= Multiple submitters primary ciliary dyskinesia
- p.Thr485= Multiple submitters primary ciliary dyskinesia
- p.Thr574= Multiple submitters primary ciliary dyskinesia
- p.Tyr368= Multiple submitters primary ciliary dyskinesia
- p.Val393Met Multiple submitters primary ciliary dyskinesia
- c.1019+10G>C Single submitter primary ciliary dyskinesia
- c.1019+10G>T Single submitter primary ciliary dyskinesia
- c.1019+11G>T Single submitter primary ciliary dyskinesia
- c.1019+20_1019+28del Single submitter primary ciliary dyskinesia
- c.1019+7A>G Single submitter primary ciliary dyskinesia
- c.1019+9A>C Single submitter primary ciliary dyskinesia
- c.1020-10T>C Single submitter primary ciliary dyskinesia
- c.1020-10T>G Single submitter primary ciliary dyskinesia
- c.1020-13T>C Single submitter primary ciliary dyskinesia
- c.1020-14A>G Single submitter primary ciliary dyskinesia
- c.1020-16A>G Single submitter primary ciliary dyskinesia
- c.1020-16A>T Single submitter primary ciliary dyskinesia
- c.1020-9T>C Single submitter primary ciliary dyskinesia
- c.1063+10C>T Single submitter primary ciliary dyskinesia
- c.1063+16A>G Single submitter primary ciliary dyskinesia
- c.1063+17T>C Single submitter primary ciliary dyskinesia
- c.1063+7G>T Single submitter primary ciliary dyskinesia
- c.1064-10C>G Single submitter primary ciliary dyskinesia
- c.1064-10C>T Single submitter primary ciliary dyskinesia
- c.1064-11del Single submitter primary ciliary dyskinesia
- c.1064-15A>T Single submitter primary ciliary dyskinesia
- c.1064-19G>A Single submitter primary ciliary dyskinesia
- c.1064-19G>C Single submitter primary ciliary dyskinesia
- c.1064-4G>A Single submitter primary ciliary dyskinesia
- c.1064-4G>T Single submitter primary ciliary dyskinesia
- c.1064-9C>T Single submitter primary ciliary dyskinesia
- c.1311+13G>A Single submitter primary ciliary dyskinesia
- c.1311+16G>A Single submitter primary ciliary dyskinesia
- c.1311+16G>T Single submitter primary ciliary dyskinesia
- c.1311+20G>A Single submitter primary ciliary dyskinesia
- c.1311+21_1311+35del Single submitter primary ciliary dyskinesia
- c.1311+7A>G Single submitter primary ciliary dyskinesia
- c.1311+8A>G Single submitter primary ciliary dyskinesia
- c.1311+9C>G Single submitter primary ciliary dyskinesia
- c.1312-109G>A Single submitter
- c.1312-10G>A Single submitter primary ciliary dyskinesia
- c.1312-19A>C Single submitter primary ciliary dyskinesia
- c.1312-4T>G Single submitter primary ciliary dyskinesia
- c.1312-77G>C Single submitter
- c.1312-7G>A Single submitter primary ciliary dyskinesia
- c.1312-8T>C Single submitter primary ciliary dyskinesia
- c.1401+12C>T Single submitter primary ciliary dyskinesia
- c.1401+18A>G Single submitter primary ciliary dyskinesia
- c.1401+20G>C Single submitter primary ciliary dyskinesia
- c.1401+6dup Single submitter primary ciliary dyskinesia
- c.1402-14G>C Single submitter primary ciliary dyskinesia
- c.1402-19C>T Single submitter primary ciliary dyskinesia
- c.1402-4A>G Single submitter primary ciliary dyskinesia
- c.1489+10C>A Single submitter primary ciliary dyskinesia
- c.1489+10C>T Single submitter primary ciliary dyskinesia
- c.1489+12A>G Single submitter primary ciliary dyskinesia
- c.1489+13G>A Single submitter primary ciliary dyskinesia
- c.1489+16C>T Single submitter primary ciliary dyskinesia
- c.1490-17C>T Single submitter primary ciliary dyskinesia
- c.1490-4C>T Single submitter primary ciliary dyskinesia
- c.1490-5C>G Single submitter primary ciliary dyskinesia
- c.1490-5C>T Single submitter primary ciliary dyskinesia
- c.1490-7T>C Single submitter primary ciliary dyskinesia
- c.1569+10C>T Single submitter primary ciliary dyskinesia
- c.1569+11C>T Single submitter primary ciliary dyskinesia
- c.1569+12C>G Single submitter primary ciliary dyskinesia
- c.1569+12dup Single submitter primary ciliary dyskinesia
- c.1569+14G>T Single submitter primary ciliary dyskinesia
- c.1569+15T>C Single submitter primary ciliary dyskinesia
- c.1569+16G>A Single submitter primary ciliary dyskinesia
- c.1569+17C>T Single submitter primary ciliary dyskinesia
- c.1569+18C>T Single submitter primary ciliary dyskinesia
- c.1569+7C>T Single submitter primary ciliary dyskinesia
- c.1570-10C>A Single submitter primary ciliary dyskinesia
- c.1570-12C>A Single submitter primary ciliary dyskinesia
- c.1570-12C>T Single submitter primary ciliary dyskinesia
- c.1570-14C>A Single submitter primary ciliary dyskinesia
- c.1570-17G>A Single submitter primary ciliary dyskinesia
- c.1570-18C>G Single submitter primary ciliary dyskinesia
- c.1570-18C>T Single submitter primary ciliary dyskinesia
- c.1570-20C>T Single submitter primary ciliary dyskinesia
- c.1570-4C>A Single submitter primary ciliary dyskinesia
- c.1570-4C>T Single submitter primary ciliary dyskinesia
- c.1570-6G>A Single submitter primary ciliary dyskinesia
- c.1570-6G>C Single submitter primary ciliary dyskinesia
- c.1570-7C>T Single submitter primary ciliary dyskinesia
- c.1570-8C>T Single submitter primary ciliary dyskinesia
- c.1718+10C>T Single submitter primary ciliary dyskinesia
- c.1718+12G>A Single submitter primary ciliary dyskinesia
- c.1718+15C>T Single submitter primary ciliary dyskinesia
- c.1718+19G>T Single submitter primary ciliary dyskinesia
- c.1718+20C>T Single submitter primary ciliary dyskinesia
- c.1718+9C>A Single submitter primary ciliary dyskinesia
- c.1719-10A>C Single submitter primary ciliary dyskinesia
- c.1719-11_1719-10insGGCTCC Single submitter primary ciliary dyskinesia
- c.1719-12C>T Single submitter primary ciliary dyskinesia
- c.1719-14C>T Single submitter primary ciliary dyskinesia
- c.1719-15C>T Single submitter primary ciliary dyskinesia
- c.1719-18C>T Single submitter primary ciliary dyskinesia
- c.1719-4G>A Single submitter primary ciliary dyskinesia
- c.1719-9C>T Single submitter primary ciliary dyskinesia
- c.180+14C>T Single submitter primary ciliary dyskinesia
- c.180+19G>A Single submitter primary ciliary dyskinesia
- c.180+20T>C Single submitter primary ciliary dyskinesia
- c.181-15A>G Single submitter primary ciliary dyskinesia
- c.181-5C>T Single submitter primary ciliary dyskinesia
- c.181-7C>A Single submitter primary ciliary dyskinesia
- c.1818+12C>T Single submitter primary ciliary dyskinesia
- c.1818+13G>A Single submitter primary ciliary dyskinesia
- c.1818+15_1818+17dup Single submitter primary ciliary dyskinesia
- c.1818+15C>G Single submitter primary ciliary dyskinesia
- c.1818+15C>T Single submitter primary ciliary dyskinesia
- c.1818+17T>C Single submitter primary ciliary dyskinesia
- c.1818+20C>T Single submitter primary ciliary dyskinesia
- c.1818+9C>G Single submitter primary ciliary dyskinesia
- c.1819-10C>T Single submitter primary ciliary dyskinesia
- c.1819-11C>T Single submitter primary ciliary dyskinesia
- c.1819-14C>G Single submitter primary ciliary dyskinesia
- c.1819-14C>T Single submitter primary ciliary dyskinesia
- c.1819-19G>A Single submitter primary ciliary dyskinesia
- c.1819-4A>C Single submitter primary ciliary dyskinesia
- c.2001+10C>G Single submitter primary ciliary dyskinesia
- c.2001+10C>T Single submitter primary ciliary dyskinesia
- c.2001+14G>A Single submitter primary ciliary dyskinesia
- c.2001+7G>A Single submitter primary ciliary dyskinesia
- c.2001+7G>C Single submitter primary ciliary dyskinesia
- c.2001+9T>C Single submitter primary ciliary dyskinesia
- c.2002-10C>T Single submitter primary ciliary dyskinesia
- c.2002-18T>C Single submitter primary ciliary dyskinesia
- c.2002-4C>T Single submitter primary ciliary dyskinesia
- c.2002-6C>T Single submitter primary ciliary dyskinesia
- c.261+10C>T Single submitter primary ciliary dyskinesia
- c.261+13C>T Single submitter primary ciliary dyskinesia
- c.261+15C>T Single submitter primary ciliary dyskinesia
- c.261+16C>T Single submitter primary ciliary dyskinesia
- c.261+19G>C Single submitter primary ciliary dyskinesia
- c.261+7C>T Single submitter primary ciliary dyskinesia
- c.261+8A>G Single submitter primary ciliary dyskinesia
- c.262-10C>G Single submitter primary ciliary dyskinesia
- c.262-13C>T Single submitter primary ciliary dyskinesia
- c.262-4T>C Single submitter primary ciliary dyskinesia
- c.262-7T>G Single submitter primary ciliary dyskinesia
- c.262-8C>T Single submitter primary ciliary dyskinesia
- c.388+10T>C Single submitter primary ciliary dyskinesia
- c.389-11A>G Single submitter primary ciliary dyskinesia
- c.389-13G>A Single submitter primary ciliary dyskinesia
- c.389-19T>C Single submitter primary ciliary dyskinesia
- c.389-215C>T Single submitter
- c.389-5C>A Single submitter primary ciliary dyskinesia
- c.389-7T>C Single submitter primary ciliary dyskinesia
- c.389-8C>A Single submitter primary ciliary dyskinesia
- c.389-9C>T Single submitter primary ciliary dyskinesia
- c.48+10G>A Single submitter primary ciliary dyskinesia
- c.48+10G>T Single submitter primary ciliary dyskinesia
- c.48+13C>T Single submitter primary ciliary dyskinesia
- c.48+14A>G Single submitter primary ciliary dyskinesia
- c.48+16C>T Single submitter primary ciliary dyskinesia
- c.48+19C>T Single submitter primary ciliary dyskinesia
- c.48+9C>G Single submitter primary ciliary dyskinesia
- c.48+9C>T Single submitter primary ciliary dyskinesia
- c.49-10C>T Single submitter primary ciliary dyskinesia
- c.49-250del Single submitter
- c.49-4T>G Single submitter primary ciliary dyskinesia
- c.49-7C>T Single submitter primary ciliary dyskinesia
- c.501+10A>G Single submitter primary ciliary dyskinesia
- c.501+14T>C Single submitter primary ciliary dyskinesia
- c.501+15C>A Single submitter primary ciliary dyskinesia
- c.501+15C>T Single submitter primary ciliary dyskinesia
- c.501+16G>T Single submitter primary ciliary dyskinesia
- c.501+17C>T Single submitter primary ciliary dyskinesia
- c.501+19_501+20del Single submitter primary ciliary dyskinesia
- c.501+8A>G Single submitter primary ciliary dyskinesia
- c.502-10T>C Single submitter primary ciliary dyskinesia
- c.502-9T>C Single submitter primary ciliary dyskinesia
- c.621+126C>T Single submitter
- c.621+12C>T Single submitter primary ciliary dyskinesia
- c.621+13C>T Single submitter primary ciliary dyskinesia
- c.621+14C>A Single submitter primary ciliary dyskinesia
- c.621+14C>T Single submitter primary ciliary dyskinesia
- c.621+14dup Single submitter primary ciliary dyskinesia
- c.621+15A>C Single submitter primary ciliary dyskinesia
- c.621+17C>G Single submitter primary ciliary dyskinesia
- c.621+9G>A Single submitter primary ciliary dyskinesia
- c.622-10T>C Single submitter primary ciliary dyskinesia
- c.622-14G>A Single submitter primary ciliary dyskinesia
- c.622-15T>C Single submitter primary ciliary dyskinesia
- c.622-17del Single submitter primary ciliary dyskinesia
- c.622-20C>G Single submitter primary ciliary dyskinesia
- c.622-6C>T Single submitter primary ciliary dyskinesia
- c.622-9G>C Single submitter primary ciliary dyskinesia
- c.681+14C>A Single submitter primary ciliary dyskinesia
- c.681+20T>C Single submitter primary ciliary dyskinesia
- c.681+7C>A Single submitter primary ciliary dyskinesia
- c.681+8C>G Single submitter primary ciliary dyskinesia
- c.681+8C>T Single submitter primary ciliary dyskinesia
- c.682-10C>T Single submitter primary ciliary dyskinesia
- c.682-11C>A Single submitter primary ciliary dyskinesia
- c.682-11C>T Single submitter primary ciliary dyskinesia
- c.682-12A>G Single submitter primary ciliary dyskinesia
- c.682-15C>G Single submitter primary ciliary dyskinesia
- c.682-17dup Single submitter primary ciliary dyskinesia
- c.682-18T>C Single submitter primary ciliary dyskinesia
- c.682-20C>T Single submitter primary ciliary dyskinesia 1
- c.682-4C>T Single submitter primary ciliary dyskinesia
- c.682-6G>C Single submitter primary ciliary dyskinesia
- c.682-9C>T Single submitter primary ciliary dyskinesia
- c.81+10G>A Single submitter primary ciliary dyskinesia
- c.81+11A>G Single submitter primary ciliary dyskinesia
- c.81+12G>C Single submitter primary ciliary dyskinesia
- c.81+14C>G Single submitter primary ciliary dyskinesia
- c.81+17_81+18dup Single submitter primary ciliary dyskinesia
- c.81+18C>T Single submitter primary ciliary dyskinesia
- c.81+9T>C Single submitter primary ciliary dyskinesia
- c.816+12G>A Single submitter primary ciliary dyskinesia
- c.816+15C>G Single submitter primary ciliary dyskinesia
- c.816+16C>G Single submitter primary ciliary dyskinesia
- c.816+16C>T Single submitter primary ciliary dyskinesia
- c.816+18A>G Single submitter primary ciliary dyskinesia
- c.816+19C>T Single submitter primary ciliary dyskinesia
- c.816+20A>G Single submitter primary ciliary dyskinesia
- c.816+20A>T Single submitter primary ciliary dyskinesia
- c.816+8G>A Single submitter primary ciliary dyskinesia
- c.817-18G>A Single submitter primary ciliary dyskinesia
- c.817-7C>T Single submitter primary ciliary dyskinesia
- c.82-11T>A Single submitter primary ciliary dyskinesia
- c.82-11T>C Single submitter primary ciliary dyskinesia
- c.82-12del Single submitter primary ciliary dyskinesia
- c.82-12G>A Single submitter primary ciliary dyskinesia
- c.82-20C>T Single submitter primary ciliary dyskinesia
- c.82-6G>A Single submitter primary ciliary dyskinesia
- c.82-8T>C Single submitter primary ciliary dyskinesia
- c.901+12A>T Single submitter primary ciliary dyskinesia
- c.901+16C>A Single submitter primary ciliary dyskinesia
- c.901+20C>A Single submitter primary ciliary dyskinesia
- c.901+7G>A Single submitter primary ciliary dyskinesia
- c.902-11G>A Single submitter primary ciliary dyskinesia
- c.902-13G>A Single submitter primary ciliary dyskinesia
- c.902-13G>C Single submitter primary ciliary dyskinesia
- c.902-15C>T Single submitter primary ciliary dyskinesia
- c.902-16C>G Single submitter primary ciliary dyskinesia
- c.902-17G>T Single submitter primary ciliary dyskinesia
- c.902-6T>C Single submitter primary ciliary dyskinesia
- c.902-8T>C Single submitter primary ciliary dyskinesia
- c.-116T>C Single submitter primary ciliary dyskinesia 1
- p.Ala166= Single submitter primary ciliary dyskinesia
- p.Ala198= Single submitter primary ciliary dyskinesia
- p.Ala225= Single submitter primary ciliary dyskinesia
- p.Ala262= Single submitter primary ciliary dyskinesia
- p.Ala299= Single submitter primary ciliary dyskinesia
- p.Ala309= Single submitter primary ciliary dyskinesia
- p.Ala330= Single submitter primary ciliary dyskinesia
- p.Ala337= Single submitter primary ciliary dyskinesia
- p.Ala538= Single submitter primary ciliary dyskinesia
- p.Ala584= Single submitter primary ciliary dyskinesia
- p.Ala589= Single submitter primary ciliary dyskinesia
- p.Ala591= Single submitter primary ciliary dyskinesia
- p.Ala6= Single submitter primary ciliary dyskinesia
- p.Ala600= Single submitter primary ciliary dyskinesia
- p.Ala607= Single submitter primary ciliary dyskinesia
- p.Ala683= Single submitter primary ciliary dyskinesia
- p.Ala8= Single submitter primary ciliary dyskinesia
- p.Arg124= Single submitter primary ciliary dyskinesia
Uncertain significance 285
- p.Ala538Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala591Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala679Pro Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala683Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala8Pro Multiple submitters primary ciliary dyskinesia 1 ⚠
- p.Arg119Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg120Gln Multiple submitters primary ciliary dyskinesia 1 ⚠
- p.Arg120Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg264Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg362Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg650Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg68Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn226His Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn638Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp125Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp28Tyr Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp307Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp59Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly167= Multiple submitters primary ciliary dyskinesia
- p.Gly402Asp Multiple submitters primary ciliary dyskinesia 1 ⚠
- p.Gly490Glu Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly499Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly605Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.His431Asp Multiple submitters primary ciliary dyskinesia ⚠
- p.His608Asn Multiple submitters primary ciliary dyskinesia 1 ⚠
- p.Ile609Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile645Met Multiple submitters primary ciliary dyskinesia 1 ⚠
- p.Ile682Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Lys15Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Lys184Glu Multiple submitters primary ciliary dyskinesia ⚠
- p.Lys243Glu Multiple submitters primary ciliary dyskinesia ⚠
- p.Lys469Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Met263Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro112Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro215Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro217Ala Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro575Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro642Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro678Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser159Asn Multiple submitters primary ciliary dyskinesia 1 ⚠
- p.Ser418Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser453Phe Multiple submitters primary ciliary dyskinesia 1 ⚠
- p.Ser525Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser85Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr189Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Tyr104His Multiple submitters primary ciliary dyskinesia 1 ⚠
- p.Tyr378Asp Multiple submitters primary ciliary dyskinesia ⚠
- p.Tyr536Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Tyr579Cys Multiple submitters primary ciliary dyskinesia ⚠
- c.1401+3_1401+10del Single submitter primary ciliary dyskinesia
- c.1719-3C>T Single submitter primary ciliary dyskinesia
- c.1818+15C>A Single submitter primary ciliary dyskinesia 1
- c.1819-9T>G Single submitter primary ciliary dyskinesia
- c.262-8C>A Single submitter primary ciliary dyskinesia 1
- c.389-6A>G Single submitter primary ciliary dyskinesia
- c.48+3A>G Single submitter primary ciliary dyskinesia
- c.48+6G>A Single submitter primary ciliary dyskinesia
- c.48+6G>C Single submitter primary ciliary dyskinesia
- c.682-16T>C Single submitter primary ciliary dyskinesia
- c.-170T>A Single submitter
- c.-180G>A Single submitter primary ciliary dyskinesia 1
- c.*163C>G Single submitter primary ciliary dyskinesia 1
- p.Ala101Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala129Thr Single submitter primary ciliary dyskinesia 1 ⚠
- p.Ala168Glu Single submitter primary ciliary dyskinesia ⚠
- p.Ala233Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala255Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala282Asp Single submitter primary ciliary dyskinesia ⚠
- p.Ala299Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala409Thr Single submitter ⚠
- p.Ala47Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala60= Single submitter primary ciliary dyskinesia
- p.Ala60Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala683Glu Single submitter primary ciliary dyskinesia ⚠
- p.Ala77Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala77Val Single submitter primary ciliary dyskinesia ⚠
- p.Arg119Trp Single submitter primary ciliary dyskinesia 1 ⚠
- p.Arg124His Single submitter primary ciliary dyskinesia ⚠
- p.Arg186Lys Single submitter primary ciliary dyskinesia ⚠
- p.Arg207Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg313Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg313Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg362Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg663Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg663Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg68Gln Single submitter primary ciliary dyskinesia 1 ⚠
- p.Asn109Asp Single submitter primary ciliary dyskinesia ⚠
- p.Asn204Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn220Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn327Ile Single submitter primary ciliary dyskinesia ⚠
- p.Asn383Ile Single submitter primary ciliary dyskinesia ⚠
- p.Asn412Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn622Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn638Thr Single submitter primary ciliary dyskinesia ⚠
- p.Asn98Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asp114Gly Single submitter primary ciliary dyskinesia ⚠
- p.Asp116Glu Single submitter primary ciliary dyskinesia ⚠
- p.Asp125del Single submitter
- p.Asp162Val Single submitter primary ciliary dyskinesia ⚠
- p.Asp301Glu Single submitter primary ciliary dyskinesia ⚠
- p.Asp306Glu Single submitter primary ciliary dyskinesia ⚠
- p.Asp314His Single submitter ⚠
- p.Asp394Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Asp433His Single submitter primary ciliary dyskinesia ⚠
- p.Asp443Gly Single submitter primary ciliary dyskinesia ⚠
- p.Asp59Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Asp648Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Cys339Phe Single submitter primary ciliary dyskinesia ⚠
- p.Gln16His Single submitter primary ciliary dyskinesia ⚠
- p.Gln212His Single submitter primary ciliary dyskinesia ⚠
- p.Gln272Glu Single submitter primary ciliary dyskinesia ⚠
- p.Gln292His Single submitter primary ciliary dyskinesia ⚠
- p.Gln315Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gln447Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gln531Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gln675His Single submitter primary ciliary dyskinesia ⚠
- p.Glu140Val Single submitter primary ciliary dyskinesia ⚠
- p.Glu146Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu210Gln Single submitter primary ciliary dyskinesia ⚠
- p.Glu237Val Single submitter primary ciliary dyskinesia ⚠
- p.Glu239Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu34Lys Single submitter primary ciliary dyskinesia 1 ⚠
- p.Glu61Lys Single submitter primary ciliary dyskinesia 1 ⚠
- p.Glu681Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu694Asp Single submitter primary ciliary dyskinesia ⚠
- p.Gly118Val Single submitter primary ciliary dyskinesia ⚠
- p.Gly363Ala Single submitter primary ciliary dyskinesia ⚠
- p.Gly363Asp Single submitter primary ciliary dyskinesia ⚠
- p.Gly36Ala Single submitter primary ciliary dyskinesia ⚠
- p.Gly385Ser Single submitter primary ciliary dyskinesia ⚠
- p.Gly38Ser Single submitter primary ciliary dyskinesia ⚠
- p.Gly497Ser Single submitter primary ciliary dyskinesia ⚠
- p.Gly677Ser Single submitter primary ciliary dyskinesia 1 ⚠
- p.Gly95Ser Single submitter primary ciliary dyskinesia ⚠
- p.His122Gln Single submitter primary ciliary dyskinesia ⚠
- p.His505Arg Single submitter primary ciliary dyskinesia ⚠
- p.His608Pro Single submitter primary ciliary dyskinesia ⚠
- p.His608Tyr Single submitter primary ciliary dyskinesia ⚠
- p.His641Tyr Single submitter primary ciliary dyskinesia ⚠
- p.His76Gln Single submitter primary ciliary dyskinesia ⚠
- p.His76Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Ile111Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ile111Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ile410Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ile521Ser Single submitter ⚠
- p.Ile567Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ile644Val Single submitter primary ciliary dyskinesia ⚠
- p.Ile654Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu238Ile Single submitter primary ciliary dyskinesia ⚠
- p.Leu319Gln Single submitter primary ciliary dyskinesia ⚠
- p.Leu513Pro Single submitter primary ciliary dyskinesia ⚠
- p.Leu55Pro Single submitter primary ciliary dyskinesia ⚠
- p.Leu658Phe Single submitter primary ciliary dyskinesia ⚠
- p.Lys240Asn Single submitter primary ciliary dyskinesia ⚠
- p.Lys243Thr Single submitter primary ciliary dyskinesia ⚠
- p.Lys247Asn Single submitter primary ciliary dyskinesia ⚠
- p.Lys260Asn Single submitter primary ciliary dyskinesia ⚠
- p.Lys26Gln Single submitter primary ciliary dyskinesia ⚠
- p.Lys331Thr Single submitter primary ciliary dyskinesia ⚠
- p.Lys520Glu Single submitter primary ciliary dyskinesia ⚠
- p.Lys616Glu Single submitter primary ciliary dyskinesia ⚠
- p.Met261Ile Single submitter primary ciliary dyskinesia ⚠
- p.Met263Val Single submitter primary ciliary dyskinesia ⚠
- p.Met269Thr Single submitter primary ciliary dyskinesia ⚠
- p.Met541Ile Single submitter primary ciliary dyskinesia ⚠
- p.Met576Ile Single submitter primary ciliary dyskinesia ⚠
- p.Phe422Leu Single submitter primary ciliary dyskinesia ⚠
- p.Phe422Ser Single submitter primary ciliary dyskinesia ⚠
- p.Phe451Asn Single submitter primary ciliary dyskinesia
- p.Phe452Leu Single submitter primary ciliary dyskinesia ⚠
- p.Phe556Ser Single submitter primary ciliary dyskinesia ⚠
- p.Phe66Leu Single submitter primary ciliary dyskinesia ⚠
- p.Phe86Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro157Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro180Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro205Arg Single submitter primary ciliary dyskinesia 1 ⚠
- p.Pro216Leu Single submitter
- p.Pro216Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro253Ala Single submitter primary ciliary dyskinesia 1 ⚠
- p.Pro253Ser Single submitter ⚠
- p.Pro396Ala Single submitter primary ciliary dyskinesia ⚠
- p.Pro3Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro495= Single submitter primary ciliary dyskinesia
- p.Pro51His Single submitter primary ciliary dyskinesia ⚠
- p.Pro624Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro9Ala Single submitter primary ciliary dyskinesia ⚠
- p.Ser159Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ser17Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ser268Phe Single submitter primary ciliary dyskinesia ⚠
- p.Ser361Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ser374Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ser384_Met387delinsArg Single submitter primary ciliary dyskinesia
- p.Ser432Leu Single submitter primary ciliary dyskinesia ⚠
- p.Ser456Pro Single submitter primary ciliary dyskinesia ⚠
- p.Ser45Ala Single submitter primary ciliary dyskinesia ⚠
- p.Ser462Ala Single submitter primary ciliary dyskinesia ⚠
- p.Ser529Phe Single submitter primary ciliary dyskinesia ⚠
- p.Ser595Pro Single submitter primary ciliary dyskinesia ⚠
- p.Thr173Ile Single submitter primary ciliary dyskinesia ⚠
- p.Thr201Ser Single submitter primary ciliary dyskinesia ⚠
- p.Thr252Asn Single submitter primary ciliary dyskinesia ⚠
- p.Thr252Ile Single submitter ⚠
- p.Thr267Ile Single submitter primary ciliary dyskinesia ⚠
- p.Thr336Ser Single submitter primary ciliary dyskinesia ⚠
- p.Thr33Ile Single submitter primary ciliary dyskinesia 1 ⚠
- p.Thr464Ala Single submitter primary ciliary dyskinesia ⚠
- p.Thr535Ala Single submitter primary ciliary dyskinesia ⚠
- p.Thr571Ala Single submitter primary ciliary dyskinesia ⚠
- p.Thr58Ser Single submitter primary ciliary dyskinesia ⚠
- p.Thr596Ile Single submitter primary ciliary dyskinesia ⚠
- p.Trp340Cys Single submitter primary ciliary dyskinesia ⚠
- p.Trp590Cys Single submitter primary ciliary dyskinesia ⚠
- p.Tyr231Cys Single submitter primary ciliary dyskinesia ⚠
- p.Tyr304Asp Single submitter primary ciliary dyskinesia ⚠
- p.Tyr305Cys Single submitter primary ciliary dyskinesia ⚠
- p.Tyr91Cys Single submitter primary ciliary dyskinesia ⚠
- p.Val102Ile Single submitter primary ciliary dyskinesia ⚠
- p.Val135Ile Single submitter primary ciliary dyskinesia ⚠
- p.Val137Met Single submitter primary ciliary dyskinesia ⚠
- p.Val163Leu Single submitter primary ciliary dyskinesia ⚠
- p.Val386Ile Single submitter primary ciliary dyskinesia ⚠
- p.Val454Leu Single submitter primary ciliary dyskinesia ⚠
- p.Val454Met Single submitter primary ciliary dyskinesia 1 ⚠
- p.Val466Gly Single submitter primary ciliary dyskinesia ⚠
- p.Val546Ala Single submitter primary ciliary dyskinesia ⚠
- p.Val546Met Single submitter primary ciliary dyskinesia ⚠
- p.Val565Leu Single submitter primary ciliary dyskinesia ⚠
- p.Val585Met Single submitter primary ciliary dyskinesia ⚠
- p.Val601Ile Single submitter primary ciliary dyskinesia ⚠
- p.Val692Leu Single submitter primary ciliary dyskinesia ⚠
- p.Val82Leu Single submitter primary ciliary dyskinesia ⚠
- c.1064-5G>A No assertion criteria primary ciliary dyskinesia
- c.1490-7del No assertion criteria primary ciliary dyskinesia
- c.1570-7C>A No assertion criteria primary ciliary dyskinesia
- c.1718+5G>A No assertion criteria primary ciliary dyskinesia
- c.389-4C>G No assertion criteria primary ciliary dyskinesia
- c.901+3A>G No assertion criteria primary ciliary dyskinesia
- c.-5T>A No assertion criteria primary ciliary dyskinesia
- c.*5C>T No assertion criteria primary ciliary dyskinesia
- p.Ala166Pro No assertion criteria primary ciliary dyskinesia ⚠
- p.Ala683Gly No assertion criteria primary ciliary dyskinesia ⚠
- p.Asn143Asp No assertion criteria primary ciliary dyskinesia ⚠
- p.Asn193Lys No assertion criteria primary ciliary dyskinesia ⚠
- p.Asn203Asp No assertion criteria primary ciliary dyskinesia ⚠
- p.Asn291Ser No assertion criteria primary ciliary dyskinesia ⚠
- p.Asn341Ser No assertion criteria primary ciliary dyskinesia ⚠
- p.Asp147Glu No assertion criteria primary ciliary dyskinesia ⚠
- p.Gln623= No assertion criteria primary ciliary dyskinesia
- p.Gln79His No assertion criteria primary ciliary dyskinesia ⚠
- p.Glu133Asp No assertion criteria primary ciliary dyskinesia ⚠
- p.Glu133Gly No assertion criteria primary ciliary dyskinesia ⚠
- p.Glu242Asp No assertion criteria primary ciliary dyskinesia ⚠
- p.Gly482= No assertion criteria primary ciliary dyskinesia
- p.His103= No assertion criteria primary ciliary dyskinesia
- p.His14Gln No assertion criteria primary ciliary dyskinesia ⚠
- p.Ile18Met No assertion criteria primary ciliary dyskinesia ⚠
- p.Ile20Val No assertion criteria primary ciliary dyskinesia ⚠
- p.Ile644Met No assertion criteria primary ciliary dyskinesia ⚠
- p.Ile94Thr No assertion criteria primary ciliary dyskinesia ⚠
- p.Leu276Val No assertion criteria primary ciliary dyskinesia ⚠
- p.Leu279Phe No assertion criteria primary ciliary dyskinesia ⚠
- p.Leu338= No assertion criteria primary ciliary dyskinesia
- p.Leu366= No assertion criteria primary ciliary dyskinesia
- p.Leu413Pro No assertion criteria primary ciliary dyskinesia ⚠
- p.Leu658= No assertion criteria primary ciliary dyskinesia
- p.Lys11= No assertion criteria primary ciliary dyskinesia
- p.Lys181Glu No assertion criteria primary ciliary dyskinesia ⚠
- p.Lys343Arg No assertion criteria primary ciliary dyskinesia ⚠
- p.Lys698Glu No assertion criteria primary ciliary dyskinesia ⚠
- p.Met263Leu No assertion criteria primary ciliary dyskinesia ⚠
- p.Met358Leu No assertion criteria primary ciliary dyskinesia ⚠
- p.Pro183Leu No assertion criteria primary ciliary dyskinesia ⚠
- p.Pro321Gln No assertion criteria primary ciliary dyskinesia ⚠
- p.Pro678Thr No assertion criteria primary ciliary dyskinesia ⚠
- p.Pro93Ser No assertion criteria primary ciliary dyskinesia ⚠
- p.Ser361Asn No assertion criteria primary ciliary dyskinesia ⚠
- p.Ser428Phe No assertion criteria primary ciliary dyskinesia ⚠
- p.Thr155Ser No assertion criteria primary ciliary dyskinesia ⚠
- p.Thr500Ala No assertion criteria primary ciliary dyskinesia ⚠
- p.Tyr231His No assertion criteria primary ciliary dyskinesia ⚠
- p.Tyr231Phe No assertion criteria primary ciliary dyskinesia ⚠
- p.Tyr352Cys No assertion criteria primary ciliary dyskinesia ⚠
- p.Tyr551= No assertion criteria primary ciliary dyskinesia
- p.Val290= No assertion criteria primary ciliary dyskinesia
- p.Val496= No assertion criteria primary ciliary dyskinesia