DNAAF2 — 612 ClinVar variants
All ClinVar germline DNAAF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 318 flagged for review →
35 Pathogenic · 4 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 35 Conflicting · 18 Benign · 10 Benign/Likely benign · 197 Likely benign · 306 Uncertain significance
Full DNAAF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 318
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 agree, ClinVar conflicts 17
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DNAAF2 p.Ala244Glu
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ala275Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ala563Ser
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ala594Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Asn528Lys
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Asp439His
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Cys469Ser
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Cys88Tyr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Gly377Arg
Conflicting
Single submitter
primary ciliary dyskinesia 10
-
DNAAF2 p.Gly464Asp
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Gly488Glu
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Gly518Arg
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ile538Leu
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Pro115Ala
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ser137Arg
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Thr761Ala
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Val20Leu
Conflicting
Single submitter
primary ciliary dyskinesia
Predictors lean, ClinVar uncertain 168
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 168
-
DNAAF2 p.Ala100Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Ala211Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Ala395Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Ala444Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Ala481Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Ala599Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Arg111Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Arg260Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Arg355Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Arg431Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Arg609Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Asp223Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Asp29Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Asp489His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Asp530Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Asp661Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Glu453Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Glu731Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Glu780Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Gly374Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.His281Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 10
-
DNAAF2 p.His605Tyr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Ile712Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Leu125Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Met809Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Pro122Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Pro241Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Pro323Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Pro357Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Pro462Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Ser135Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Ser490Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Thr583Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Thr650Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Thr703Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Tyr139Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Tyr142His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Tyr228His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Tyr52His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Val814Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Ala152Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ala154Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ala168Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ala233Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ala238Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ala352Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ala379Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ala421Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ala481Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ala509Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ala575Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ala668Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ala85Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Arg104Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Arg182Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Arg49Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Arg685Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia 10
-
DNAAF2 p.Asn528Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Asn617Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Asn627Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Asn630Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Asn769Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Asn808Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Asp143His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Asp143Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Asp267Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Asp376Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Asp397Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Asp401Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Asp439Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Asp551Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Asp802Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Cys308Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Cys701Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Cys727Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Cys93Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Gln229Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Gln247Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Gln810Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Glu158Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Glu216Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Glu216Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Glu243Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Glu387Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Glu41Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Glu429Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Glu497Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Glu532Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Glu55Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Glu60Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAAF2 p.Glu772Asp Uncertain significance Single submitter
-
DNAAF2 p.Glu772Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Glu772Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Glu778Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Glu780Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Gly106Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Gly177Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Gly194Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Gly215Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Gly219Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Gly329Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Gly377Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Gly411Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Gly482Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Gly502Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Gly511Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Gly64Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Gly99Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.His785Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ile654Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ile698Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ile712Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ile775Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ile775Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ile798Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ile817Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Leu169Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Leu221Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Leu246Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Leu322Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Leu43Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Leu548Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Leu548Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Leu679Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Leu692Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Leu833Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Lys305Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Lys313Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Lys579Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Lys644Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Lys644Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Met140Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Met140Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Met163Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Met647Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Met647Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Phe160Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Pro105Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Pro115Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Pro220Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Pro222Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Pro225Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Pro276Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Pro276Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Pro280Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Pro418Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Pro418Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Pro418Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Pro454Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Pro523Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
Predictors split 133
The independent predictors disagree with each other — read with care.
-
DNAAF2 p.Ala126Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Ala358Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Arg111Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Arg22Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 10
-
DNAAF2 p.Arg317Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Arg431His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Arg542Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Asn48Lys
Benign
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Asp835Tyr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Cys469Tyr
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Gln529Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Glu368Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Glu60Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Glu62Asp
Benign
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Glu66Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Gly112Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Gly177Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Gly207Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Leu283Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Leu521Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Lys191Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Phe146Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Pro148Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Pro234Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Pro236Leu
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Ser25Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Ser450Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Ser480Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Thr794Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Tyr228Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Val412Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF2 p.Ala113Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ala114Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ala154Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ala168Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ala198Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ala233Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ala245Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ala299Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ala2Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ala352Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ala383Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 10
-
DNAAF2 p.Ala408Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ala40Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ala427Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ala4Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ala5Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Arg129His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Arg269Gly
Likely benign
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Arg339Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Arg33Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Arg473Trp
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Arg50Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Arg61Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Arg61Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Arg87His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Asn184Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Asp328Asn
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Asp530Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Asp618Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Asp709Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Cys403Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Gln529Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Gln564His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Glu170Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Glu173Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Glu197Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Glu356Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Glu42Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Glu532Gly
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Glu629Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Gly133Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Gly159Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Gly207Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Gly449Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Gly614Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Gly84Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.His400Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.His71Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.His76Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ile285Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ile56Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Leu320Arg
Likely benign
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Leu43Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Leu440Phe
Likely benign
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Leu536Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Leu555Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Leu620Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Leu657Phe
Conflicting
Single submitter
primary ciliary dyskinesia 10
-
DNAAF2 p.Leu790Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Met140Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Met163Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Pro206Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Pro217Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Pro222Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Pro222Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Pro325Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Pro351Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Pro357Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia 10
-
DNAAF2 p.Pro46Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Pro523Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia 10
-
DNAAF2 p.Pro523Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Pro541Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Pro545Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Pro652Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ser102Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ser240Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ser277Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ser467Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ser472Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ser562Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ser591Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ser604Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ser619Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ser676Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ser736Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Ser7Phe
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Thr24Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Thr251Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Thr501Met
Uncertain significance
Single submitter
primary ciliary dyskinesia 10
-
DNAAF2 p.Thr533Ala
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Tyr123Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Tyr255His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Val141Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Val178Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Val208Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Val20Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Val263Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Val284Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF2 p.Val344Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAAF2 p.Val567Gly Uncertain significance Single submitter
-
DNAAF2 p.Val70Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia 10
-
DNAAF2 p.Val92Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
All DNAAF2 variants
Pathogenic 35
- p.Phe160fs Multiple submitters primary ciliary dyskinesia 10
- p.Ala233fs Single submitter primary ciliary dyskinesia
- p.Ala364fs Single submitter primary ciliary dyskinesia
- p.Arg134fs Single submitter primary ciliary dyskinesia
- p.Arg79fs Single submitter primary ciliary dyskinesia
- p.Asn632fs Single submitter primary ciliary dyskinesia
- p.Gln162Ter Single submitter primary ciliary dyskinesia
- p.Gln229Ter Single submitter primary ciliary dyskinesia
- p.Glu130Ter Single submitter primary ciliary dyskinesia
- p.Glu216Ter Single submitter primary ciliary dyskinesia
- p.Glu243fs Single submitter primary ciliary dyskinesia
- p.Glu252Ter Single submitter primary ciliary dyskinesia
- p.Glu356Ter Single submitter primary ciliary dyskinesia
- p.Glu368fs Single submitter primary ciliary dyskinesia
- p.Glu387Ter Single submitter primary ciliary dyskinesia
- p.Glu621Ter Single submitter primary ciliary dyskinesia
- p.Glu636Ter Single submitter primary ciliary dyskinesia
- p.Leu318fs Single submitter primary ciliary dyskinesia
- p.Leu548fs Single submitter primary ciliary dyskinesia
- p.Leu78fs Single submitter primary ciliary dyskinesia
- p.Pro127fs Single submitter primary ciliary dyskinesia
- p.Pro217fs Single submitter primary ciliary dyskinesia
- p.Pro390fs Single submitter primary ciliary dyskinesia
- p.Ser479fs Single submitter primary ciliary dyskinesia
- p.Ser506fs Single submitter primary ciliary dyskinesia
- p.Ser590fs Single submitter primary ciliary dyskinesia
- p.Thr303fs Single submitter primary ciliary dyskinesia
- p.Thr402fs Single submitter primary ciliary dyskinesia
- p.Trp477Ter Single submitter primary ciliary dyskinesia
- p.Tyr268Ter Single submitter primary ciliary dyskinesia
- p.Val279fs Single submitter primary ciliary dyskinesia
- p.Gly406fs No assertion criteria primary ciliary dyskinesia 10
- p.Ser8Ter No assertion criteria primary ciliary dyskinesia 10
- p.Ser9Ter No assertion criteria primary ciliary dyskinesia 10
- p.Tyr52Ter No assertion criteria primary ciliary dyskinesia 10
Pathogenic/Likely pathogenic 4
- p.Ala275fs Multiple submitters primary ciliary dyskinesia
- p.Gln504Ter Multiple submitters primary ciliary dyskinesia 10
- p.Gln529Ter Multiple submitters primary ciliary dyskinesia
- p.Glu387fs Multiple submitters primary ciliary dyskinesia 10
Likely pathogenic 7
- p.Glu243Ter Multiple submitters primary ciliary dyskinesia
- p.Glu499fs Single submitter primary ciliary dyskinesia 10
- p.Glu519fs Single submitter primary ciliary dyskinesia
- p.Glu603Ter Single submitter primary ciliary dyskinesia 10
- p.Leu559Ter Single submitter DNAAF2-related disorder
- p.Thr251fs Single submitter primary ciliary dyskinesia 10
- p.Glu60Ter No assertion criteria DNAAF2-related disorder
Conflicting classifications of pathogenicity 35
- p.Ala233Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala244Glu Single submitter primary ciliary dyskinesia ⚠
- p.Ala245Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala275Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala563Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala594Val Single submitter primary ciliary dyskinesia ⚠
- p.Arg473Trp Single submitter primary ciliary dyskinesia ⚠
- p.Asn528Lys Single submitter primary ciliary dyskinesia ⚠
- p.Asn675_Ser676insTer Single submitter primary ciliary dyskinesia 10
- p.Asn702= Single submitter primary ciliary dyskinesia
- p.Asp328Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp439His Single submitter primary ciliary dyskinesia ⚠
- p.Cys469Ser Single submitter primary ciliary dyskinesia ⚠
- p.Cys88Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Gln810Ter Single submitter primary ciliary dyskinesia 10
- p.Glu532= Single submitter primary ciliary dyskinesia 10
- p.Glu532Gly Single submitter primary ciliary dyskinesia ⚠
- p.Gly377Arg Single submitter primary ciliary dyskinesia 10 ⚠
- p.Gly464Asp Single submitter primary ciliary dyskinesia ⚠
- p.Gly488Glu Single submitter primary ciliary dyskinesia ⚠
- p.Gly518Arg Single submitter primary ciliary dyskinesia ⚠
- p.His157= Single submitter primary ciliary dyskinesia
- p.His796= Single submitter primary ciliary dyskinesia
- p.Ile538Leu Single submitter primary ciliary dyskinesia ⚠
- p.Leu657Phe Single submitter primary ciliary dyskinesia 10 ⚠
- p.Pro115Ala Single submitter primary ciliary dyskinesia ⚠
- p.Pro651= Single submitter primary ciliary dyskinesia
- p.Ser137Arg Single submitter primary ciliary dyskinesia ⚠
- p.Ser498= Single submitter primary ciliary dyskinesia
- p.Ser7Phe Single submitter primary ciliary dyskinesia ⚠
- p.Thr533Ala Single submitter primary ciliary dyskinesia ⚠
- p.Thr761Ala Single submitter primary ciliary dyskinesia ⚠
- p.Val141= Single submitter primary ciliary dyskinesia
- p.Val20Leu Single submitter primary ciliary dyskinesia ⚠
- p.Val90= Single submitter primary ciliary dyskinesia
Benign 18
- c.1863+16A>G Multiple submitters primary ciliary dyskinesia
- c.1864-40G>T Multiple submitters
- c.2007+91C>T Multiple submitters
- c.-79C>T Multiple submitters primary ciliary dyskinesia 10
- c.*126T>A Multiple submitters primary ciliary dyskinesia 10
- c.*328A>T Multiple submitters primary ciliary dyskinesia 10
- p.Ala166= Multiple submitters primary ciliary dyskinesia
- p.Asn48Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp768Gly Multiple submitters primary ciliary dyskinesia
- p.Gln729= Multiple submitters primary ciliary dyskinesia
- p.Glu62Asp Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr494= Multiple submitters primary ciliary dyskinesia
- p.Val359= Multiple submitters primary ciliary dyskinesia
- c.2007+144dup Single submitter
- c.2007+235G>A Single submitter
- c.2007+300T>C Single submitter
- c.2008-136A>G Single submitter
- c.*182dup Single submitter
Benign/Likely benign 10
- p.Arg487Cys Multiple submitters primary ciliary dyskinesia
- p.Arg542= Multiple submitters primary ciliary dyskinesia
- p.Asn617= Multiple submitters primary ciliary dyskinesia
- p.Cys469Tyr Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu243Ala Multiple submitters primary ciliary dyskinesia
- p.Leu43= Multiple submitters primary ciliary dyskinesia
- p.Pro236Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro456Leu Multiple submitters primary ciliary dyskinesia
- p.Thr187= Multiple submitters primary ciliary dyskinesia
- p.Thr726Ala Multiple submitters primary ciliary dyskinesia
Likely benign 197
- p.Ala126= Multiple submitters primary ciliary dyskinesia
- p.Ala244= Multiple submitters primary ciliary dyskinesia
- p.Ala713= Multiple submitters primary ciliary dyskinesia
- p.Asn528His Multiple submitters primary ciliary dyskinesia
- p.Asn830= Multiple submitters primary ciliary dyskinesia
- p.Asp371= Multiple submitters primary ciliary dyskinesia
- p.Asp489= Multiple submitters primary ciliary dyskinesia
- p.Gln438= Multiple submitters primary ciliary dyskinesia
- p.Gln546= Multiple submitters primary ciliary dyskinesia
- p.Glu62= Multiple submitters primary ciliary dyskinesia
- p.Glu777= Multiple submitters primary ciliary dyskinesia
- p.Gly399= Multiple submitters primary ciliary dyskinesia
- p.Gly409= Multiple submitters primary ciliary dyskinesia
- p.His443= Multiple submitters primary ciliary dyskinesia
- p.Leu649= Multiple submitters primary ciliary dyskinesia
- p.Lys558= Multiple submitters primary ciliary dyskinesia
- p.Lys805= Multiple submitters primary ciliary dyskinesia
- p.Pro196= Multiple submitters primary ciliary dyskinesia
- p.Pro227= Multiple submitters primary ciliary dyskinesia
- p.Pro278= Multiple submitters primary ciliary dyskinesia
- p.Pro423= Multiple submitters primary ciliary dyskinesia
- p.Pro524= Multiple submitters primary ciliary dyskinesia
- p.Ser373= Multiple submitters primary ciliary dyskinesia 10
- p.Ser467= Multiple submitters primary ciliary dyskinesia
- p.Ser788= Multiple submitters primary ciliary dyskinesia
- p.Ter838= Multiple submitters primary ciliary dyskinesia
- p.Thr535= Multiple submitters primary ciliary dyskinesia
- p.Tyr226His Multiple submitters primary ciliary dyskinesia
- p.Tyr613= Multiple submitters primary ciliary dyskinesia
- p.Val349= Multiple submitters primary ciliary dyskinesia
- p.Val595= Multiple submitters primary ciliary dyskinesia
- c.1863+19G>A Single submitter primary ciliary dyskinesia
- c.1864-13C>G Single submitter primary ciliary dyskinesia
- c.1864-38A>G Single submitter
- c.1864-9_1864-8del Single submitter primary ciliary dyskinesia
- c.2007+10T>C Single submitter primary ciliary dyskinesia
- c.2007+12G>A Single submitter primary ciliary dyskinesia
- c.2007+157del Single submitter
- c.2007+15G>A Single submitter
- c.2007+8A>T Single submitter primary ciliary dyskinesia
- c.2008-109G>A Single submitter
- c.2008-10C>T Single submitter primary ciliary dyskinesia
- c.2008-12C>G Single submitter primary ciliary dyskinesia
- c.2008-16G>C Single submitter primary ciliary dyskinesia
- c.2008-19G>A Single submitter primary ciliary dyskinesia
- c.2008-5C>T Single submitter primary ciliary dyskinesia
- c.*182del Single submitter
- p.Ala100= Single submitter primary ciliary dyskinesia
- p.Ala132= Single submitter primary ciliary dyskinesia
- p.Ala154= Single submitter primary ciliary dyskinesia
- p.Ala199= Single submitter primary ciliary dyskinesia
- p.Ala26= Single submitter primary ciliary dyskinesia
- p.Ala352= Single submitter primary ciliary dyskinesia
- p.Ala362= Single submitter primary ciliary dyskinesia
- p.Ala370= Single submitter primary ciliary dyskinesia
- p.Ala4= Single submitter primary ciliary dyskinesia
- p.Ala481= Single submitter primary ciliary dyskinesia
- p.Ala486= Single submitter primary ciliary dyskinesia
- p.Ala563= Single submitter primary ciliary dyskinesia
- p.Ala58= Single submitter primary ciliary dyskinesia
- p.Ala716= Single submitter primary ciliary dyskinesia
- p.Ala825= Single submitter primary ciliary dyskinesia
- p.Arg111= Single submitter primary ciliary dyskinesia
- p.Arg155= Single submitter primary ciliary dyskinesia
- p.Arg161= Single submitter primary ciliary dyskinesia
- p.Arg183= Single submitter primary ciliary dyskinesia
- p.Arg254= Single submitter primary ciliary dyskinesia
- p.Arg269= Single submitter primary ciliary dyskinesia
- p.Arg269Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg33= Single submitter primary ciliary dyskinesia
- p.Arg355= Single submitter primary ciliary dyskinesia
- p.Arg372= Single submitter primary ciliary dyskinesia
- p.Arg473= Single submitter primary ciliary dyskinesia
- p.Arg560= Single submitter primary ciliary dyskinesia
- p.Arg79= Single submitter primary ciliary dyskinesia
- p.Arg87= Single submitter
- p.Asn48= Single submitter primary ciliary dyskinesia
- p.Asn592= Single submitter primary ciliary dyskinesia
- p.Asn593= Single submitter primary ciliary dyskinesia
- p.Asn667= Single submitter primary ciliary dyskinesia
- p.Asn769= Single submitter primary ciliary dyskinesia
- p.Asn771= Single submitter primary ciliary dyskinesia
- p.Asn791= Single submitter primary ciliary dyskinesia
- p.Asn823= Single submitter primary ciliary dyskinesia
- p.Asn91= Single submitter primary ciliary dyskinesia
- p.Asp110Gly Single submitter primary ciliary dyskinesia
- p.Asp376= Single submitter primary ciliary dyskinesia
- p.Asp734= Single submitter primary ciliary dyskinesia
- p.Asp835= Single submitter primary ciliary dyskinesia
- p.Cys270= Single submitter primary ciliary dyskinesia
- p.Gln529= Single submitter primary ciliary dyskinesia
- p.Gln737= Single submitter primary ciliary dyskinesia
- p.Glu356= Single submitter primary ciliary dyskinesia
- p.Glu356Asp Single submitter primary ciliary dyskinesia
- p.Glu385= Single submitter primary ciliary dyskinesia
- p.Glu419= Single submitter
- p.Glu42= Single submitter primary ciliary dyskinesia
- p.Glu53= Single submitter primary ciliary dyskinesia
- p.Glu603= Single submitter primary ciliary dyskinesia
- p.Glu610= Single submitter primary ciliary dyskinesia
- p.Glu629= Single submitter
- p.Glu637= Single submitter primary ciliary dyskinesia
- p.Gly109= Single submitter primary ciliary dyskinesia
- p.Gly112= Single submitter primary ciliary dyskinesia
- p.Gly128= Single submitter primary ciliary dyskinesia
- p.Gly194= Single submitter primary ciliary dyskinesia
- p.Gly215= Single submitter primary ciliary dyskinesia
- p.Gly235= Single submitter primary ciliary dyskinesia
- p.Gly235Arg Single submitter primary ciliary dyskinesia
- p.Gly374= Single submitter primary ciliary dyskinesia
- p.Gly377= Single submitter primary ciliary dyskinesia
- p.Gly398= Single submitter primary ciliary dyskinesia
- p.Gly406= Single submitter primary ciliary dyskinesia
- p.Gly457= Single submitter primary ciliary dyskinesia
- p.Gly463= Single submitter primary ciliary dyskinesia
- p.Gly466= Single submitter primary ciliary dyskinesia
- p.Gly502= Single submitter primary ciliary dyskinesia
- p.Gly518= Single submitter primary ciliary dyskinesia
- p.Gly64= Single submitter primary ciliary dyskinesia
- p.His261= Single submitter primary ciliary dyskinesia
- p.His76= Single submitter primary ciliary dyskinesia
- p.His820= Single submitter primary ciliary dyskinesia
- p.Ile538= Single submitter primary ciliary dyskinesia
- p.Ile56= Single submitter primary ciliary dyskinesia
- p.Ile719Thr Single submitter primary ciliary dyskinesia
- p.Leu121= Single submitter primary ciliary dyskinesia
- p.Leu169= Single submitter primary ciliary dyskinesia
- p.Leu320Arg Single submitter primary ciliary dyskinesia ⚠
- p.Leu342= Single submitter primary ciliary dyskinesia
- p.Leu415Val Single submitter primary ciliary dyskinesia
- p.Leu440Phe Single submitter primary ciliary dyskinesia ⚠
- p.Leu475= Single submitter primary ciliary dyskinesia
- p.Leu526= Single submitter primary ciliary dyskinesia
- p.Leu536= Single submitter primary ciliary dyskinesia
- p.Leu657= Single submitter primary ciliary dyskinesia
- p.Leu679= Single submitter primary ciliary dyskinesia
- p.Leu833= Single submitter primary ciliary dyskinesia
- p.Lys179= Single submitter primary ciliary dyskinesia
- p.Lys682= Single submitter primary ciliary dyskinesia
- p.Met738Val Single submitter
- p.Phe160= Single submitter primary ciliary dyskinesia
- p.Phe36= Single submitter primary ciliary dyskinesia
- p.Pro105= Single submitter primary ciliary dyskinesia
- p.Pro127= Single submitter primary ciliary dyskinesia
- p.Pro206= Single submitter primary ciliary dyskinesia
- p.Pro217= Single submitter primary ciliary dyskinesia
- p.Pro220= Single submitter primary ciliary dyskinesia
- p.Pro222= Single submitter primary ciliary dyskinesia
- p.Pro225= Single submitter primary ciliary dyskinesia
- p.Pro231= Single submitter primary ciliary dyskinesia
- p.Pro239= Single submitter primary ciliary dyskinesia
- p.Pro276= Single submitter primary ciliary dyskinesia
- p.Pro325= Single submitter primary ciliary dyskinesia
- p.Pro351= Single submitter primary ciliary dyskinesia
- p.Pro424= Single submitter primary ciliary dyskinesia
- p.Pro433= Single submitter
- p.Pro448= Single submitter primary ciliary dyskinesia
- p.Pro462= Single submitter primary ciliary dyskinesia
- p.Pro545= Single submitter primary ciliary dyskinesia
- p.Pro602= Single submitter primary ciliary dyskinesia
- p.Pro642= Single submitter
- p.Ser102= Single submitter primary ciliary dyskinesia
- p.Ser103= Single submitter primary ciliary dyskinesia
- p.Ser107= Single submitter primary ciliary dyskinesia
- p.Ser136Gly Single submitter primary ciliary dyskinesia
- p.Ser294= Single submitter primary ciliary dyskinesia
- p.Ser321= Single submitter primary ciliary dyskinesia
- p.Ser410= Single submitter primary ciliary dyskinesia
- p.Ser472= Single submitter primary ciliary dyskinesia
- p.Ser474= Single submitter primary ciliary dyskinesia
- p.Ser569= Single submitter primary ciliary dyskinesia
- p.Ser591= Single submitter primary ciliary dyskinesia
- p.Ser604= Single submitter primary ciliary dyskinesia
- p.Ser648= Single submitter primary ciliary dyskinesia
- p.Ser721= Single submitter
- p.Ser732= Single submitter primary ciliary dyskinesia
- p.Thr167= Single submitter primary ciliary dyskinesia
- p.Thr203= Single submitter primary ciliary dyskinesia
- p.Thr24= Single submitter
- p.Thr413= Single submitter primary ciliary dyskinesia
- p.Thr501= Single submitter primary ciliary dyskinesia
- p.Thr515= Single submitter primary ciliary dyskinesia
- p.Thr703= Single submitter primary ciliary dyskinesia
- p.Thr726= Single submitter primary ciliary dyskinesia
- p.Thr794= Single submitter primary ciliary dyskinesia
- p.Thr807= Single submitter primary ciliary dyskinesia
- p.Tyr139= Single submitter primary ciliary dyskinesia
- p.Tyr142= Single submitter primary ciliary dyskinesia
- p.Tyr226= Single submitter primary ciliary dyskinesia
- p.Tyr324= Single submitter primary ciliary dyskinesia
- p.Val145= Single submitter primary ciliary dyskinesia
- p.Val20= Single submitter primary ciliary dyskinesia
- p.Val200= Single submitter primary ciliary dyskinesia
- p.Val348= Single submitter primary ciliary dyskinesia
- p.Val626= Single submitter primary ciliary dyskinesia
- p.Val638= Single submitter primary ciliary dyskinesia
- p.Val735= Single submitter primary ciliary dyskinesia
Uncertain significance 306
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala100Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala126Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala211Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala358Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala395Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala444Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala481Glu Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala599Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg111Pro Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg111Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg22Gln Multiple submitters primary ciliary dyskinesia 10 ⚠
- p.Arg260Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg317Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg355Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg431Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg431His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg542Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg609Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp223Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp29Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp489His Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp530Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp661Glu Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp835Tyr Multiple submitters primary ciliary dyskinesia ⚠
- p.Gln529Pro Multiple submitters primary ciliary dyskinesia ⚠
- p.Gln573= Multiple submitters primary ciliary dyskinesia
- p.Glu368Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu453Asp Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu60Asp Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu66Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu731Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu780Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly112Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly177Ala Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly207Glu Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly374Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.His281Gln Multiple submitters primary ciliary dyskinesia 10 ⚠
- p.His605Tyr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile712Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu125Pro Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu283Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu521Phe Multiple submitters primary ciliary dyskinesia ⚠
- p.Lys191Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Lys644Ser Multiple submitters primary ciliary dyskinesia
- p.Met809Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Phe146Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro122Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro148Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro234Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro241Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro323Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro357Ala Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro462Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser124_Tyr131del Multiple submitters primary ciliary dyskinesia
- p.Ser135Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser25Phe Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser450Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser480Phe Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser490Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr583Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr650Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr703Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr794Met Multiple submitters primary ciliary dyskinesia ⚠
- p.Tyr139Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Tyr142His Multiple submitters primary ciliary dyskinesia ⚠
- p.Tyr228Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Tyr228His Multiple submitters primary ciliary dyskinesia ⚠
- p.Tyr52His Multiple submitters primary ciliary dyskinesia ⚠
- p.Val412Phe Multiple submitters primary ciliary dyskinesia ⚠
- p.Val814Leu Multiple submitters primary ciliary dyskinesia ⚠
- c.2007+5G>A Single submitter primary ciliary dyskinesia
- c.2007+6G>A Single submitter primary ciliary dyskinesia
- c.-4C>G Single submitter primary ciliary dyskinesia 10
- c.*157A>G Single submitter primary ciliary dyskinesia 10
- c.*191A>G Single submitter primary ciliary dyskinesia 10
- c.*213A>G Single submitter primary ciliary dyskinesia 10
- p.Ala113Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala114Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala152Glu Single submitter primary ciliary dyskinesia ⚠
- p.Ala154Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ala154Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala168Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala168Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala198Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala233Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala238Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala299Pro Single submitter primary ciliary dyskinesia ⚠
- p.Ala2Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala352Pro Single submitter primary ciliary dyskinesia ⚠
- p.Ala352Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala364_Ala365del Single submitter
- p.Ala364_Ala365dup Single submitter primary ciliary dyskinesia
- p.Ala365del Single submitter primary ciliary dyskinesia
- p.Ala379Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala383Thr Single submitter primary ciliary dyskinesia 10 ⚠
- p.Ala408Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala40Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala421Glu Single submitter primary ciliary dyskinesia ⚠
- p.Ala427Asp Single submitter primary ciliary dyskinesia ⚠
- p.Ala481Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala4Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala509Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala575Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala5Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala668Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala85Val Single submitter primary ciliary dyskinesia ⚠
- p.Arg104Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg129= Single submitter primary ciliary dyskinesia 10
- p.Arg129His Single submitter primary ciliary dyskinesia ⚠
- p.Arg182Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg339Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg33Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg49Pro Single submitter primary ciliary dyskinesia ⚠
- p.Arg50Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg61Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg61Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg685Gly Single submitter primary ciliary dyskinesia 10 ⚠
- p.Arg87His Single submitter primary ciliary dyskinesia ⚠
- p.Asn184Asp Single submitter primary ciliary dyskinesia ⚠
- p.Asn528Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Asn617Asp Single submitter primary ciliary dyskinesia ⚠
- p.Asn627Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn630Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Asn662del Single submitter primary ciliary dyskinesia 10
- p.Asn769Asp Single submitter primary ciliary dyskinesia ⚠
- p.Asn769fs Single submitter primary ciliary dyskinesia
- p.Asn808Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn830fs Single submitter primary ciliary dyskinesia
- p.Asp143His Single submitter primary ciliary dyskinesia ⚠
- p.Asp143Val Single submitter primary ciliary dyskinesia ⚠
- p.Asp267Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Asp376Glu Single submitter primary ciliary dyskinesia ⚠
- p.Asp397Glu Single submitter primary ciliary dyskinesia ⚠
- p.Asp401Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp439Val Single submitter primary ciliary dyskinesia ⚠
- p.Asp530Glu Single submitter primary ciliary dyskinesia ⚠
- p.Asp551Val Single submitter primary ciliary dyskinesia ⚠
- p.Asp618Ala Single submitter primary ciliary dyskinesia ⚠
- p.Asp709Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Asp802Asn Single submitter primary ciliary dyskinesia ⚠
- p.Cys308Phe Single submitter primary ciliary dyskinesia ⚠
- p.Cys403Trp Single submitter primary ciliary dyskinesia ⚠
- p.Cys701Phe Single submitter primary ciliary dyskinesia ⚠
- p.Cys727Phe Single submitter primary ciliary dyskinesia ⚠
- p.Cys93Phe Single submitter primary ciliary dyskinesia ⚠
- p.Gln229Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gln247Pro Single submitter primary ciliary dyskinesia ⚠
- p.Gln529Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gln564His Single submitter primary ciliary dyskinesia ⚠
- p.Gln810Arg Single submitter primary ciliary dyskinesia ⚠
- p.Glu158Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu170Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu173Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu197Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu216Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu216Gln Single submitter primary ciliary dyskinesia ⚠
- p.Glu243Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu288= Single submitter primary ciliary dyskinesia 10
- p.Glu356Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu387Gly Single submitter primary ciliary dyskinesia ⚠
- p.Glu41Ala Single submitter primary ciliary dyskinesia ⚠
- p.Glu429Ala Single submitter primary ciliary dyskinesia ⚠
- p.Glu42Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu496Gln Single submitter primary ciliary dyskinesia
- p.Glu497Val Single submitter primary ciliary dyskinesia ⚠
- p.Glu532Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu55Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu60Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu629Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu757Ter Single submitter primary ciliary dyskinesia
- p.Glu772Asp Single submitter ⚠
- p.Glu772Gly Single submitter primary ciliary dyskinesia ⚠
- p.Glu772Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu778Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu780Gln Single submitter primary ciliary dyskinesia ⚠
- p.Glu806Ter Single submitter primary ciliary dyskinesia
- p.Gly106Asp Single submitter primary ciliary dyskinesia ⚠
- p.Gly133Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly159Asp Single submitter primary ciliary dyskinesia ⚠
- p.Gly177Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly194Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly207Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly215Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly219Asp Single submitter primary ciliary dyskinesia ⚠
- p.Gly329Asp Single submitter primary ciliary dyskinesia ⚠
- p.Gly377Ser Single submitter primary ciliary dyskinesia ⚠
- p.Gly411Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly449Cys Single submitter primary ciliary dyskinesia ⚠
- p.Gly482Ala Single submitter primary ciliary dyskinesia ⚠
- p.Gly502Asp Single submitter primary ciliary dyskinesia ⚠
- p.Gly511Val Single submitter primary ciliary dyskinesia ⚠
- p.Gly614Asp Single submitter primary ciliary dyskinesia ⚠
- p.Gly64Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly84Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly99Ser Single submitter primary ciliary dyskinesia ⚠
- p.His400Tyr Single submitter primary ciliary dyskinesia ⚠
- p.His71Leu Single submitter primary ciliary dyskinesia ⚠
- p.His76Arg Single submitter primary ciliary dyskinesia ⚠
- p.His785Asn Single submitter primary ciliary dyskinesia ⚠
- p.Ile285Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ile56Val Single submitter primary ciliary dyskinesia ⚠
- p.Ile654Val Single submitter primary ciliary dyskinesia ⚠
- p.Ile698Val Single submitter primary ciliary dyskinesia ⚠
- p.Ile712Val Single submitter primary ciliary dyskinesia ⚠
- p.Ile775Lys Single submitter primary ciliary dyskinesia ⚠
- p.Ile775Val Single submitter primary ciliary dyskinesia ⚠
- p.Ile798Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ile817Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu169Pro Single submitter primary ciliary dyskinesia ⚠
- p.Leu221Arg Single submitter primary ciliary dyskinesia ⚠
- p.Leu246Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu322Phe Single submitter primary ciliary dyskinesia ⚠
- p.Leu43Phe Single submitter primary ciliary dyskinesia ⚠
- p.Leu43Pro Single submitter primary ciliary dyskinesia ⚠
- p.Leu536Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu548Arg Single submitter primary ciliary dyskinesia ⚠
- p.Leu548Ile Single submitter primary ciliary dyskinesia ⚠
- p.Leu555Phe Single submitter primary ciliary dyskinesia ⚠
- p.Leu620Ser Single submitter primary ciliary dyskinesia ⚠
- p.Leu679Ile Single submitter primary ciliary dyskinesia ⚠
- p.Leu692Ile Single submitter primary ciliary dyskinesia ⚠
- p.Leu790Gln Single submitter primary ciliary dyskinesia ⚠
- p.Leu833Val Single submitter primary ciliary dyskinesia ⚠
- p.Lys305Glu Single submitter primary ciliary dyskinesia ⚠
- p.Lys313Glu Single submitter primary ciliary dyskinesia ⚠
- p.Lys579Thr Single submitter primary ciliary dyskinesia ⚠
- p.Lys644Arg Single submitter primary ciliary dyskinesia ⚠
- p.Lys644Asn Single submitter primary ciliary dyskinesia ⚠
- p.Met140Leu Single submitter primary ciliary dyskinesia ⚠
- p.Met140Lys Single submitter primary ciliary dyskinesia ⚠
- p.Met140Val Single submitter primary ciliary dyskinesia ⚠
- p.Met163Ile Single submitter primary ciliary dyskinesia ⚠
- p.Met163Leu Single submitter primary ciliary dyskinesia ⚠
- p.Met647Leu Single submitter primary ciliary dyskinesia ⚠
- p.Met647Val Single submitter primary ciliary dyskinesia ⚠
- p.Phe160Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro105Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro115Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro206Thr Single submitter primary ciliary dyskinesia ⚠
- p.Pro217Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro220Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro222Arg Single submitter primary ciliary dyskinesia ⚠
- p.Pro222Gln Single submitter primary ciliary dyskinesia ⚠
- p.Pro222Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro225Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro276Ala Single submitter primary ciliary dyskinesia ⚠
- p.Pro276Arg Single submitter primary ciliary dyskinesia ⚠
- p.Pro280Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro325Ala Single submitter primary ciliary dyskinesia ⚠
- p.Pro351Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro357Leu Single submitter primary ciliary dyskinesia 10 ⚠
- p.Pro418Ala Single submitter primary ciliary dyskinesia ⚠
- p.Pro418Gln Single submitter primary ciliary dyskinesia ⚠
- p.Pro418Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro454Arg Single submitter primary ciliary dyskinesia ⚠
- p.Pro46Arg Single submitter primary ciliary dyskinesia ⚠
- p.Pro523Arg Single submitter primary ciliary dyskinesia ⚠
- p.Pro523Leu Single submitter primary ciliary dyskinesia 10 ⚠
- p.Pro523Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro541Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro545Arg Single submitter primary ciliary dyskinesia ⚠
- p.Pro545Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro652Ala Single submitter primary ciliary dyskinesia ⚠
- p.Ser102Arg Single submitter primary ciliary dyskinesia ⚠
- p.Ser102Asn Single submitter primary ciliary dyskinesia ⚠
- p.Ser240Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Ser277Asn Single submitter primary ciliary dyskinesia ⚠
- p.Ser410Ala Single submitter primary ciliary dyskinesia ⚠
- p.Ser441Arg Single submitter primary ciliary dyskinesia ⚠
- p.Ser467Phe Single submitter primary ciliary dyskinesia ⚠
- p.Ser472Phe Single submitter primary ciliary dyskinesia ⚠
- p.Ser480Pro Single submitter primary ciliary dyskinesia ⚠
- p.Ser562Phe Single submitter primary ciliary dyskinesia ⚠
- p.Ser588Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ser591Leu Single submitter primary ciliary dyskinesia ⚠
- p.Ser604Asn Single submitter primary ciliary dyskinesia ⚠
- p.Ser619Phe Single submitter primary ciliary dyskinesia ⚠
- p.Ser676Cys Single submitter primary ciliary dyskinesia ⚠
- p.Ser690Ile Single submitter primary ciliary dyskinesia ⚠
- p.Ser736Phe Single submitter primary ciliary dyskinesia ⚠
- p.Thr24Ile Single submitter primary ciliary dyskinesia ⚠
- p.Thr251Pro Single submitter primary ciliary dyskinesia ⚠
- p.Thr375Ser Single submitter primary ciliary dyskinesia ⚠
- p.Thr501Met Single submitter primary ciliary dyskinesia 10 ⚠
- p.Thr57Ala Single submitter primary ciliary dyskinesia ⚠
- p.Thr794Ala Single submitter primary ciliary dyskinesia ⚠
- p.Thr80Pro Single submitter primary ciliary dyskinesia ⚠
- p.Tyr123Cys Single submitter primary ciliary dyskinesia ⚠
- p.Tyr226Asp Single submitter primary ciliary dyskinesia ⚠
- p.Tyr230Asn Single submitter primary ciliary dyskinesia ⚠
- p.Tyr255His Single submitter primary ciliary dyskinesia ⚠
- p.Val141Ile Single submitter primary ciliary dyskinesia ⚠
- p.Val144Met Single submitter primary ciliary dyskinesia ⚠
- p.Val178Leu Single submitter primary ciliary dyskinesia ⚠
- p.Val208Ile Single submitter primary ciliary dyskinesia ⚠
- p.Val20Asp Single submitter primary ciliary dyskinesia ⚠
- p.Val263Ala Single submitter primary ciliary dyskinesia ⚠
- p.Val284Glu Single submitter primary ciliary dyskinesia ⚠
- p.Val326Met Single submitter primary ciliary dyskinesia ⚠
- p.Val344Leu Single submitter primary ciliary dyskinesia ⚠