DNAI2 — 869 ClinVar variants
All ClinVar germline DNAI2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 233 flagged for review →
48 Pathogenic · 20 Pathogenic/Likely pathogenic · 39 Likely pathogenic · 44 Conflicting · 47 Benign · 13 Benign/Likely benign · 411 Likely benign · 247 Uncertain significance
Full DNAI2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 233
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 9
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DNAI2 p.Gly15Arg
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Gly430Arg
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Ile555Val
Conflicting
Single submitter
primary ciliary dyskinesia 9
-
DNAI2 p.Leu381Pro
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Phe437Leu
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Pro572Leu
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Thr571Met
Conflicting
Single submitter
primary ciliary dyskinesia 9
-
DNAI2 p.Tyr106Phe
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Val539Ile
Conflicting
Single submitter
primary ciliary dyskinesia
Predictors lean, ClinVar uncertain 101
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DNAI2 p.Ala109Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Ala567Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Arg263Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 9
-
DNAI2 p.Arg347Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Arg95His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Asp385Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Asp443Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 9
-
DNAI2 p.Asp534Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Gln40His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Glu137Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Glu137Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Glu39Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Glu440Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Gly235Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Lys99Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Met32Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Pro377Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Thr49Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Val107Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Val289Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Val4Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Ala242Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Ala369Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Ala388Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Ala538Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Arg11His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Arg163Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Arg295Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Arg347Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia 9
-
DNAI2 p.Arg389Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Arg419Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Arg44Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Asn124Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Asn135Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Asn175His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Asn207Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Asp136Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAI2 p.Asp385Tyr Uncertain significance Single submitter
-
DNAI2 p.Asp429Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Asp603Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Gln17Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Gln24Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Gln24Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Gln273Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Gln40Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Glu137Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Glu254Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Glu279Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Glu312Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Glu326Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Glu338Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Glu393Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Glu530Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Glu68Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Glu78Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Gly15Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Gly174Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Gly336Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Gly362Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Gly384Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Gly523Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAI2 p.His60Arg Uncertain significance Single submitter
-
DNAI2 p.Ile308Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Ile400Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia 9
-
DNAI2 p.Ile467Met
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Ile568Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Leu213Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Leu37Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia 9
-
DNAI2 p.Leu455Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Lys524Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Lys561Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Met57Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Phe14Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Phe325Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Phe437Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Phe437Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Phe456Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Pro265Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Pro330Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Pro35Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Pro420Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Pro577Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Ser196Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Ser322Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Ser497Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 9
-
DNAI2 p.Thr382Met
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Trp391Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Val231Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Val383Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Arg502Pro
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI2 p.Arg95Cys
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI2 p.Asp293Tyr
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI2 p.Cys280Tyr
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI2 p.Gln52Pro
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI2 p.Ile3Leu
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI2 p.Leu219Phe
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI2 p.Ser284Phe
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI2 p.Ser416Arg
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI2 p.Ser486Cys
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI2 p.Ser54Leu
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI2 p.Thr49Ser
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
Predictors split 123
The independent predictors disagree with each other — read with care.
-
DNAI2 p.Ala179Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 9
-
DNAI2 p.Ala317Thr
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Ala369Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Arg189Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 9
-
DNAI2 p.Arg189Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Arg347His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Arg389Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Arg459Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Arg515Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Arg518Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Arg518Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Arg66Trp
Uncertain significance
Multiple submitters
DNAI2-related disorder
-
DNAI2 p.Arg97Gln
Likely benign
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Asn238Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Asp197Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Asp197Val
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Asp540Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Gln472Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Glu326Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 9
-
DNAI2 p.Glu549Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Glu602Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Gly114Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Ile127Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Leu113Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 9
-
DNAI2 p.Leu168Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Leu488Phe
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Met334Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Pro377Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Ser115Tyr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Ser58Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Thr431Ala
Likely benign
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Tyr368Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Val220Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Val418Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Val42Met
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Val85Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAI2 p.Ala468Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Ala525Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Ala543Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Ala567Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Arg263Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Arg44Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Arg459Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Arg502Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Arg502His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Arg505Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Arg506Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Arg515Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Arg66Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Arg66Leu
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Arg72Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Arg72Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Arg72Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Arg97Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Asn316Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Asn316Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Asn45Ser
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Asn75Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Asp128Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Asp173Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Asp30Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Asp436Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Asp48Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Asp554His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Cys465Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia 9
-
DNAI2 p.Gln112Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Gln112His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Glu259Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Glu453Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Glu511Asp
Conflicting
Single submitter
primary ciliary dyskinesia 9
-
DNAI2 p.Glu516Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Glu581Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Glu89Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Gly114Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Gly470Ser
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Gly588Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Gly596Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Gly80Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.His119Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.His406Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Ile200Leu
Conflicting
Single submitter
primary ciliary dyskinesia 9
-
DNAI2 p.Ile258Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Ile390Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Ile556Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Leu211Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Leu232Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Leu446Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Lys227Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Lys449Asn
Uncertain significance
Single submitter
Respiratory ciliopathies including non-CF bronchiectasis
-
DNAI2 p.Lys522Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Met117Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Met297Ile
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Met401Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Met499Ile
Likely benign
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Met69Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Pro191Ser
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Pro361Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Pro366Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Pro87Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Ser261Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Ser298Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Ser327Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Ser398Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Ser482Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Thr285Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Thr285Met
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Thr301Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Thr328Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia 9
-
DNAI2 p.Thr351Met
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Tyr199His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Tyr405Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Val252Met
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Val357Met
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAI2 p.Val422Ile
Likely benign
Single submitter
primary ciliary dyskinesia
- DNAI2 p.Val85Leu Uncertain significance Single submitter
-
DNAI2 p.Ala413Val
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI2 p.Ala496Asp
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI2 p.Ala567Pro
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI2 p.Glu536Lys
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI2 p.Ile270Met
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI2 p.Lys177Asn
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI2 p.Thr426Ile
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
-
DNAI2 p.Tyr133Cys
Uncertain significance
No assertion criteria
primary ciliary dyskinesia
All DNAI2 variants
Pathogenic 48
- c.346-3T>G Multiple submitters primary ciliary dyskinesia
- p.Arg247Ter Multiple submitters primary ciliary dyskinesia
- p.Arg263Ter Multiple submitters primary ciliary dyskinesia
- p.Ala109fs Single submitter primary ciliary dyskinesia
- p.Ala349fs Single submitter primary ciliary dyskinesia
- p.Ala454fs Single submitter primary ciliary dyskinesia
- p.Arg396fs Single submitter primary ciliary dyskinesia
- p.Arg459fs Single submitter primary ciliary dyskinesia
- p.Arg505_Arg506insTer Single submitter primary ciliary dyskinesia
- p.Arg505fs Single submitter primary ciliary dyskinesia
- p.Asn205fs Single submitter primary ciliary dyskinesia
- p.Asn207fs Single submitter primary ciliary dyskinesia
- p.Asp534fs Single submitter primary ciliary dyskinesia
- p.Asp597fs Single submitter primary ciliary dyskinesia
- p.Gln159fs Single submitter primary ciliary dyskinesia
- p.Gln288Ter Single submitter primary ciliary dyskinesia
- p.Gln52Ter Single submitter primary ciliary dyskinesia
- p.Glu138Ter Single submitter primary ciliary dyskinesia
- p.Glu145Ter Single submitter primary ciliary dyskinesia
- p.Glu223fs Single submitter primary ciliary dyskinesia
- p.Glu299fs Single submitter primary ciliary dyskinesia
- p.Glu43Ter Single submitter primary ciliary dyskinesia 9
- p.Glu453fs Single submitter primary ciliary dyskinesia
- p.Glu480fs Single submitter primary ciliary dyskinesia
- p.Glu599Ter Single submitter primary ciliary dyskinesia
- p.Gly234Asp Single submitter primary ciliary dyskinesia
- p.Gly474Arg Single submitter primary ciliary dyskinesia
- p.Gly588fs Single submitter primary ciliary dyskinesia
- p.Leu478fs Single submitter primary ciliary dyskinesia
- p.Leu519fs Single submitter primary ciliary dyskinesia
- p.Leu88fs Single submitter primary ciliary dyskinesia
- p.Lys275Ter Single submitter primary ciliary dyskinesia
- p.Lys310Ter Single submitter primary ciliary dyskinesia
- p.Lys378Ter Single submitter primary ciliary dyskinesia
- p.Lys562fs Single submitter primary ciliary dyskinesia
- p.Lys83fs Single submitter primary ciliary dyskinesia
- p.Pro483fs Single submitter primary ciliary dyskinesia
- p.Ser546fs Single submitter primary ciliary dyskinesia
- p.Thr421fs Single submitter primary ciliary dyskinesia
- p.Thr477fs Single submitter primary ciliary dyskinesia
- p.Thr487fs Single submitter primary ciliary dyskinesia
- p.Trp244Ter Single submitter primary ciliary dyskinesia
- p.Trp292Ter Single submitter primary ciliary dyskinesia
- p.Trp415Ter Single submitter primary ciliary dyskinesia
- p.Tyr182Ter Single submitter primary ciliary dyskinesia
- p.Tyr5Ter Single submitter primary ciliary dyskinesia
- p.Tyr7Ter Single submitter primary ciliary dyskinesia
- p.Val481fs Single submitter primary ciliary dyskinesia
Pathogenic/Likely pathogenic 20
- c.1494+1G>A Multiple submitters primary ciliary dyskinesia
- c.1494+1G>T Multiple submitters primary ciliary dyskinesia
- c.610+1G>A Multiple submitters primary ciliary dyskinesia
- p.Arg247Gln Multiple submitters primary ciliary dyskinesia
- p.Arg295Ter Multiple submitters primary ciliary dyskinesia
- p.Arg506Ter Multiple submitters primary ciliary dyskinesia
- p.Asn45fs Multiple submitters primary ciliary dyskinesia
- p.Asp84fs Multiple submitters primary ciliary dyskinesia 9
- p.Cys442Ter Multiple submitters primary ciliary dyskinesia 9
- p.Gln188Ter Multiple submitters primary ciliary dyskinesia
- p.Gln240Ter Multiple submitters primary ciliary dyskinesia
- p.Gln472Ter Multiple submitters primary ciliary dyskinesia
- p.Glu141Ter Multiple submitters primary ciliary dyskinesia
- p.Glu78fs Multiple submitters primary ciliary dyskinesia
- p.Phe375fs Multiple submitters primary ciliary dyskinesia
- p.Thr475fs Multiple submitters primary ciliary dyskinesia
- p.Trp291Ter Multiple submitters primary ciliary dyskinesia
- p.Trp391Ter Multiple submitters primary ciliary dyskinesia
- p.Trp435Ter Multiple submitters primary ciliary dyskinesia
- p.Asn105fs No assertion criteria DNAI2-related disorder
Likely pathogenic 39
- c.1348-1G>A Multiple submitters primary ciliary dyskinesia
- c.1495-2A>T Multiple submitters primary ciliary dyskinesia
- c.610+1G>T Multiple submitters primary ciliary dyskinesia
- c.725-2A>C Multiple submitters primary ciliary dyskinesia
- c.1211+2_1211+5del Single submitter primary ciliary dyskinesia
- c.1212-17_1250del Single submitter primary ciliary dyskinesia
- c.1212-2A>C Single submitter primary ciliary dyskinesia
- c.1347+1G>T Single submitter primary ciliary dyskinesia
- c.1348-1G>T Single submitter primary ciliary dyskinesia
- c.1495-2_1495-1delinsTT Single submitter primary ciliary dyskinesia
- c.1723-1G>A Single submitter primary ciliary dyskinesia 9
- c.184-1G>A Single submitter primary ciliary dyskinesia
- c.184-2A>T Single submitter primary ciliary dyskinesia
- c.345+1G>T Single submitter primary ciliary dyskinesia
- c.345+2T>C Single submitter primary ciliary dyskinesia
- c.467+1G>T Single submitter primary ciliary dyskinesia
- c.468-2A>G Single submitter primary ciliary dyskinesia
- c.610+1del Single submitter primary ciliary dyskinesia
- c.864+1G>T Single submitter primary ciliary dyskinesia
- c.865-1G>C Single submitter primary ciliary dyskinesia
- c.987+1G>A Single submitter primary ciliary dyskinesia 9
- p.Ala164fs Single submitter primary ciliary dyskinesia
- p.Ala558fs Single submitter primary ciliary dyskinesia
- p.Arg372Ter Single submitter primary ciliary dyskinesia
- p.Asn225fs Single submitter primary ciliary dyskinesia 9
- p.Asp30fs Single submitter primary ciliary dyskinesia 9
- p.Glu492fs Single submitter primary ciliary dyskinesia
- p.Gly114fs Single submitter primary ciliary dyskinesia 9
- p.Gly464fs Single submitter primary ciliary dyskinesia
- p.Ile343Ser Single submitter primary ciliary dyskinesia
- p.Leu219_Val220insTer Single submitter primary ciliary dyskinesia 9
- p.Leu329fs Single submitter primary ciliary dyskinesia
- p.Met407fs Single submitter primary ciliary dyskinesia
- p.Thr151fs Single submitter primary ciliary dyskinesia
- p.Trp386Ter Single submitter primary ciliary dyskinesia
- p.Tyr376fs Single submitter primary ciliary dyskinesia
- p.Tyr405Ter Single submitter primary ciliary dyskinesia 9
- p.Val545fs Single submitter primary ciliary dyskinesia 9
- p.Val74fs Single submitter primary ciliary dyskinesia 9
Conflicting classifications of pathogenicity 44
- c.1348-15C>G Single submitter primary ciliary dyskinesia 9
- c.1722+1G>A Single submitter primary ciliary dyskinesia
- c.1723-1G>T Single submitter primary ciliary dyskinesia
- c.468-4G>T Single submitter primary ciliary dyskinesia
- c.610+12C>T Single submitter primary ciliary dyskinesia
- p.Ala253= Single submitter primary ciliary dyskinesia
- p.Ala525Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala543= Single submitter primary ciliary dyskinesia 9
- p.Ala543Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala592= Single submitter primary ciliary dyskinesia
- p.Arg66Leu Single submitter primary ciliary dyskinesia ⚠
- p.Asn45Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asp412= Single submitter primary ciliary dyskinesia
- p.Asp534= Single submitter primary ciliary dyskinesia
- p.Asp566fs Single submitter primary ciliary dyskinesia
- p.Cys469Ter Single submitter primary ciliary dyskinesia
- p.Glu13= Single submitter primary ciliary dyskinesia
- p.Glu511Asp Single submitter primary ciliary dyskinesia 9 ⚠
- p.Gly15Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly430Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly470Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ile200Leu Single submitter primary ciliary dyskinesia 9 ⚠
- p.Ile555Val Single submitter primary ciliary dyskinesia 9 ⚠
- p.Leu381Pro Single submitter primary ciliary dyskinesia ⚠
- p.Leu485= Single submitter primary ciliary dyskinesia 9
- p.Lys561= Single submitter primary ciliary dyskinesia 9
- p.Met297Ile Single submitter primary ciliary dyskinesia ⚠
- p.Met401Thr Single submitter primary ciliary dyskinesia ⚠
- p.Phe41= Single submitter primary ciliary dyskinesia
- p.Phe437Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro191Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro572Leu Single submitter primary ciliary dyskinesia ⚠
- p.Ser398= Single submitter primary ciliary dyskinesia
- p.Ser416= Single submitter primary ciliary dyskinesia
- p.Ser498= Single submitter primary ciliary dyskinesia
- p.Thr276= Single submitter primary ciliary dyskinesia
- p.Thr285Met Single submitter primary ciliary dyskinesia ⚠
- p.Thr351Met Single submitter primary ciliary dyskinesia ⚠
- p.Thr571Met Single submitter primary ciliary dyskinesia 9 ⚠
- p.Tyr106= Single submitter primary ciliary dyskinesia
- p.Tyr106Phe Single submitter primary ciliary dyskinesia ⚠
- p.Val252Met Single submitter primary ciliary dyskinesia ⚠
- p.Val460= Single submitter primary ciliary dyskinesia
- p.Val539Ile Single submitter primary ciliary dyskinesia ⚠
Benign 47
- c.1212-199G>C Multiple submitters
- c.1347+161T>C Multiple submitters
- c.1347+226C>T Multiple submitters
- c.1347+266C>T Multiple submitters
- c.1347+288G>A Multiple submitters
- c.1347+7C>T Multiple submitters primary ciliary dyskinesia
- c.1495-53G>A Multiple submitters
- c.1722+34G>A Multiple submitters primary ciliary dyskinesia 9
- c.1722+41C>T Multiple submitters primary ciliary dyskinesia 9
- c.1722+78G>A Multiple submitters primary ciliary dyskinesia 9
- c.1723-253C>T Multiple submitters
- c.345+27A>G Multiple submitters primary ciliary dyskinesia 9
- c.467+77G>T Multiple submitters primary ciliary dyskinesia 9
- c.468-28C>T Multiple submitters
- c.610+31G>A Multiple submitters primary ciliary dyskinesia 9
- c.724+158G>A Multiple submitters primary ciliary dyskinesia 9
- c.865-5A>G Multiple submitters primary ciliary dyskinesia
- c.865-66G>A Multiple submitters
- c.865-81C>T Multiple submitters primary ciliary dyskinesia 9
- c.-11-257G>A Multiple submitters
- c.-11-67A>G Multiple submitters primary ciliary dyskinesia 9
- c.-54A>G Multiple submitters primary ciliary dyskinesia 9
- c.*55+66G>A Multiple submitters
- p.Ala558Thr Multiple submitters primary ciliary dyskinesia
- p.Glu354= Multiple submitters primary ciliary dyskinesia
- p.Thr278= Multiple submitters primary ciliary dyskinesia
- p.Thr351= Multiple submitters primary ciliary dyskinesia
- p.Val495Ile Multiple submitters primary ciliary dyskinesia
- c.1211+127C>T Single submitter
- c.1211+249_1211+250del Single submitter
- c.1211+250del Single submitter
- c.1212-175_1212-174dup Single submitter
- c.1347+13T>G Single submitter primary ciliary dyskinesia
- c.1495-152C>A Single submitter
- c.345+219A>G Single submitter
- c.346-255G>C Single submitter
- c.468-207C>T Single submitter
- c.468-60dup Single submitter
- c.611-332AG[2] Single submitter
- c.724+24del Single submitter primary ciliary dyskinesia
- c.724+24dup Single submitter primary ciliary dyskinesia
- c.724+331G>A Single submitter
- c.987+17G>T Single submitter primary ciliary dyskinesia
- c.988-172G>T Single submitter
- p.Leu510= Single submitter primary ciliary dyskinesia
- p.Ser229Ala Single submitter primary ciliary dyskinesia
- p.Val495= Single submitter primary ciliary dyskinesia
Benign/Likely benign 13
- c.725-27C>T Multiple submitters
- c.865-18C>T Multiple submitters primary ciliary dyskinesia
- p.Ala317Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp197Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp554Asn Multiple submitters primary ciliary dyskinesia
- p.Glu132= Multiple submitters primary ciliary dyskinesia
- p.Glu78= Multiple submitters primary ciliary dyskinesia 9
- p.Leu488Phe Multiple submitters primary ciliary dyskinesia ⚠
- p.Lys311= Multiple submitters primary ciliary dyskinesia
- p.Lys524= Multiple submitters primary ciliary dyskinesia
- p.Pro377= Multiple submitters primary ciliary dyskinesia
- p.Thr477= Multiple submitters primary ciliary dyskinesia
- p.Val42Met Multiple submitters primary ciliary dyskinesia ⚠
Likely benign 411
Showing the top 300 by review status; the full set is in the sitemap.
- c.1211+92T>C Multiple submitters
- c.1212-116A>G Multiple submitters
- c.183+51C>G Multiple submitters
- c.184-88A>G Multiple submitters
- c.467+10T>C Multiple submitters primary ciliary dyskinesia
- c.55+6G>A Multiple submitters primary ciliary dyskinesia 9
- c.724+95T>C Multiple submitters
- p.Ala538= Multiple submitters primary ciliary dyskinesia
- p.Ala558= Multiple submitters primary ciliary dyskinesia
- p.Arg506= Multiple submitters primary ciliary dyskinesia
- p.Arg66= Multiple submitters primary ciliary dyskinesia
- p.Arg97Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp429= Multiple submitters primary ciliary dyskinesia
- p.Asp452= Multiple submitters primary ciliary dyskinesia
- p.Asp566= Multiple submitters primary ciliary dyskinesia
- p.Asp84= Multiple submitters primary ciliary dyskinesia
- p.Cys442= Multiple submitters primary ciliary dyskinesia
- p.Glu393= Multiple submitters primary ciliary dyskinesia
- p.Glu602= Multiple submitters primary ciliary dyskinesia
- p.Gly15= Multiple submitters primary ciliary dyskinesia
- p.Ile467= Multiple submitters primary ciliary dyskinesia
- p.Leu222= Multiple submitters primary ciliary dyskinesia
- p.Leu37= Multiple submitters primary ciliary dyskinesia
- p.Lys355= Multiple submitters primary ciliary dyskinesia
- p.Phe439= Multiple submitters primary ciliary dyskinesia
- p.Phe553= Multiple submitters primary ciliary dyskinesia
- p.Pro300= Multiple submitters primary ciliary dyskinesia
- p.Pro417= Multiple submitters primary ciliary dyskinesia
- p.Ser216= Multiple submitters primary ciliary dyskinesia
- p.Ser298= Multiple submitters primary ciliary dyskinesia
- p.Ser327= Multiple submitters primary ciliary dyskinesia
- p.Thr285= Multiple submitters primary ciliary dyskinesia
- p.Thr426= Multiple submitters primary ciliary dyskinesia
- p.Thr431Ala Multiple submitters primary ciliary dyskinesia ⚠
- p.Tyr368= Multiple submitters primary ciliary dyskinesia
- p.Val77= Multiple submitters primary ciliary dyskinesia
- c.1211+10G>A Single submitter primary ciliary dyskinesia
- c.1211+17G>T Single submitter primary ciliary dyskinesia
- c.1211+18G>A Single submitter primary ciliary dyskinesia
- c.1211+7G>A Single submitter primary ciliary dyskinesia
- c.1211+7G>C Single submitter primary ciliary dyskinesia
- c.1211+9C>G Single submitter primary ciliary dyskinesia
- c.1212-10C>T Single submitter primary ciliary dyskinesia
- c.1212-174dup Single submitter
- c.1212-17T>C Single submitter primary ciliary dyskinesia
- c.1212-193C>A Single submitter
- c.1212-19T>A Single submitter primary ciliary dyskinesia
- c.1212-20_1212-19del Single submitter primary ciliary dyskinesia
- c.1212-23_1212-9del Single submitter primary ciliary dyskinesia
- c.1212-6C>T Single submitter primary ciliary dyskinesia
- c.1212-7C>T Single submitter primary ciliary dyskinesia
- c.1212-9C>T Single submitter primary ciliary dyskinesia
- c.1347+10A>G Single submitter primary ciliary dyskinesia
- c.1347+12G>A Single submitter primary ciliary dyskinesia
- c.1347+13T>A Single submitter primary ciliary dyskinesia
- c.1347+14C>A Single submitter primary ciliary dyskinesia
- c.1347+18C>T Single submitter primary ciliary dyskinesia
- c.1347+19C>T Single submitter primary ciliary dyskinesia
- c.1347+6_1347+7delinsTT Single submitter primary ciliary dyskinesia
- c.1347+7C>G Single submitter primary ciliary dyskinesia
- c.1347+8G>A Single submitter primary ciliary dyskinesia
- c.1347+8G>C Single submitter primary ciliary dyskinesia
- c.1347+8G>T Single submitter primary ciliary dyskinesia
- c.1348-11C>G Single submitter primary ciliary dyskinesia
- c.1348-14G>T Single submitter primary ciliary dyskinesia
- c.1348-15C>T Single submitter primary ciliary dyskinesia
- c.1348-16C>T Single submitter primary ciliary dyskinesia
- c.1348-18G>T Single submitter primary ciliary dyskinesia
- c.1348-39CT[2] Single submitter
- c.1348-6C>T Single submitter primary ciliary dyskinesia
- c.1494+12G>C Single submitter primary ciliary dyskinesia
- c.1494+18G>A Single submitter primary ciliary dyskinesia
- c.1494+20G>A Single submitter primary ciliary dyskinesia
- c.1494+308dup Single submitter
- c.1494+7A>G Single submitter primary ciliary dyskinesia
- c.1494+9C>G Single submitter primary ciliary dyskinesia
- c.1494+9C>T Single submitter primary ciliary dyskinesia
- c.1495-10G>C Single submitter primary ciliary dyskinesia
- c.1495-12C>G Single submitter primary ciliary dyskinesia
- c.1495-12C>T Single submitter primary ciliary dyskinesia
- c.1495-13C>G Single submitter primary ciliary dyskinesia
- c.1495-14C>G Single submitter primary ciliary dyskinesia
- c.1495-14C>T Single submitter primary ciliary dyskinesia
- c.1495-4C>A Single submitter primary ciliary dyskinesia
- c.1495-4C>T Single submitter primary ciliary dyskinesia
- c.1722+10T>C Single submitter primary ciliary dyskinesia
- c.1722+14C>T Single submitter primary ciliary dyskinesia
- c.1722+15_1722+16del Single submitter primary ciliary dyskinesia
- c.1722+15A>G Single submitter primary ciliary dyskinesia
- c.1722+8C>A Single submitter primary ciliary dyskinesia
- c.1723-13T>C Single submitter primary ciliary dyskinesia
- c.1723-17G>A Single submitter primary ciliary dyskinesia
- c.1723-19G>A Single submitter primary ciliary dyskinesia
- c.1723-20T>C Single submitter primary ciliary dyskinesia
- c.1723-4G>A Single submitter primary ciliary dyskinesia
- c.1723-5del Single submitter primary ciliary dyskinesia
- c.1723-5T>C Single submitter primary ciliary dyskinesia
- c.1723-9C>G Single submitter primary ciliary dyskinesia
- c.183+12C>T Single submitter primary ciliary dyskinesia
- c.183+14C>T Single submitter primary ciliary dyskinesia
- c.183+15C>T Single submitter primary ciliary dyskinesia
- c.183+20G>T Single submitter primary ciliary dyskinesia
- c.184-13G>A Single submitter primary ciliary dyskinesia
- c.184-157A>G Single submitter
- c.184-15C>A Single submitter primary ciliary dyskinesia
- c.184-15C>T Single submitter primary ciliary dyskinesia
- c.184-20T>G Single submitter primary ciliary dyskinesia
- c.184-8C>T Single submitter primary ciliary dyskinesia
- c.184-9T>C Single submitter primary ciliary dyskinesia
- c.345+13C>T Single submitter primary ciliary dyskinesia
- c.345+17C>T Single submitter primary ciliary dyskinesia
- c.345+18C>T Single submitter primary ciliary dyskinesia
- c.345+19C>A Single submitter primary ciliary dyskinesia
- c.345+19C>T Single submitter primary ciliary dyskinesia
- c.345+20C>T Single submitter primary ciliary dyskinesia
- c.346-10T>C Single submitter primary ciliary dyskinesia
- c.346-11G>T Single submitter primary ciliary dyskinesia
- c.346-13G>A Single submitter primary ciliary dyskinesia
- c.346-18C>G Single submitter primary ciliary dyskinesia
- c.346-267C>G Single submitter
- c.346-4C>T Single submitter primary ciliary dyskinesia
- c.346-5C>T Single submitter primary ciliary dyskinesia
- c.346-8C>T Single submitter primary ciliary dyskinesia
- c.346-9C>G Single submitter primary ciliary dyskinesia
- c.346-9C>T Single submitter primary ciliary dyskinesia
- c.467+14C>G Single submitter primary ciliary dyskinesia
- c.467+17G>T Single submitter primary ciliary dyskinesia
- c.467+7C>A Single submitter primary ciliary dyskinesia
- c.467+7C>T Single submitter primary ciliary dyskinesia
- c.467+9A>G Single submitter primary ciliary dyskinesia
- c.468-12T>C Single submitter primary ciliary dyskinesia
- c.468-13C>T Single submitter primary ciliary dyskinesia
- c.468-14C>T Single submitter primary ciliary dyskinesia
- c.468-5T>C Single submitter primary ciliary dyskinesia
- c.468-7C>T Single submitter primary ciliary dyskinesia
- c.468-8C>T Single submitter primary ciliary dyskinesia
- c.610+10A>G Single submitter primary ciliary dyskinesia
- c.610+11G>A Single submitter primary ciliary dyskinesia
- c.610+13G>A Single submitter primary ciliary dyskinesia
- c.610+20T>C Single submitter primary ciliary dyskinesia
- c.610+267T>C Single submitter
- c.610+9C>G Single submitter primary ciliary dyskinesia
- c.611-13T>C Single submitter primary ciliary dyskinesia
- c.611-16T>A Single submitter primary ciliary dyskinesia
- c.611-17T>A Single submitter primary ciliary dyskinesia
- c.611-19A>C Single submitter primary ciliary dyskinesia
- c.611-19A>T Single submitter primary ciliary dyskinesia
- c.611-4A>G Single submitter primary ciliary dyskinesia
- c.611-6T>G Single submitter primary ciliary dyskinesia
- c.611-7T>C Single submitter primary ciliary dyskinesia
- c.611-7T>G Single submitter primary ciliary dyskinesia
- c.724+12C>A Single submitter primary ciliary dyskinesia
- c.724+14T>C Single submitter primary ciliary dyskinesia
- c.724+18C>T Single submitter primary ciliary dyskinesia
- c.724+20T>G Single submitter primary ciliary dyskinesia
- c.724+20TTTTTA[2] Single submitter primary ciliary dyskinesia
- c.724+20TTTTTA[4] Single submitter primary ciliary dyskinesia
- c.724+251G>A Single submitter
- c.725-13_725-11del Single submitter primary ciliary dyskinesia
- c.725-15C>A Single submitter primary ciliary dyskinesia
- c.725-5A>G Single submitter primary ciliary dyskinesia
- c.725-5A>T Single submitter primary ciliary dyskinesia
- c.725-6C>A Single submitter primary ciliary dyskinesia
- c.725-6C>G Single submitter primary ciliary dyskinesia
- c.725-8C>T Single submitter primary ciliary dyskinesia
- c.725-9C>T Single submitter primary ciliary dyskinesia
- c.864+10A>T Single submitter primary ciliary dyskinesia
- c.864+14A>G Single submitter primary ciliary dyskinesia
- c.864+16A>C Single submitter primary ciliary dyskinesia
- c.864+16A>T Single submitter primary ciliary dyskinesia
- c.864+17C>A Single submitter primary ciliary dyskinesia
- c.864+19C>G Single submitter primary ciliary dyskinesia
- c.864+19C>T Single submitter primary ciliary dyskinesia
- c.864+9C>T Single submitter primary ciliary dyskinesia
- c.865-10C>T Single submitter primary ciliary dyskinesia
- c.865-11C>T Single submitter primary ciliary dyskinesia
- c.865-15C>G Single submitter primary ciliary dyskinesia
- c.865-15C>T Single submitter primary ciliary dyskinesia
- c.865-17G>A Single submitter primary ciliary dyskinesia
- c.865-5A>T Single submitter primary ciliary dyskinesia
- c.865-6_865-5inv Single submitter primary ciliary dyskinesia
- c.865-7C>A Single submitter primary ciliary dyskinesia
- c.987+14dup Single submitter primary ciliary dyskinesia
- c.987+9C>G Single submitter primary ciliary dyskinesia
- c.988-10C>T Single submitter primary ciliary dyskinesia
- c.988-16G>A Single submitter primary ciliary dyskinesia
- c.988-213C>T Single submitter
- c.988-8T>C Single submitter primary ciliary dyskinesia
- c.-11-201G>C Single submitter
- c.*18C>T Single submitter
- c.*22G>A Single submitter
- p.Ala126= Single submitter primary ciliary dyskinesia
- p.Ala149= Single submitter primary ciliary dyskinesia
- p.Ala165= Single submitter primary ciliary dyskinesia
- p.Ala181= Single submitter primary ciliary dyskinesia
- p.Ala242= Single submitter primary ciliary dyskinesia
- p.Ala25= Single submitter primary ciliary dyskinesia
- p.Ala283= Single submitter primary ciliary dyskinesia
- p.Ala317= Single submitter primary ciliary dyskinesia
- p.Ala349= Single submitter primary ciliary dyskinesia
- p.Ala38= Single submitter primary ciliary dyskinesia
- p.Ala413= Single submitter primary ciliary dyskinesia
- p.Ala454= Single submitter primary ciliary dyskinesia
- p.Ala525= Single submitter primary ciliary dyskinesia
- p.Ala543Glu Single submitter primary ciliary dyskinesia
- p.Ala548= Single submitter primary ciliary dyskinesia
- p.Ala591= Single submitter primary ciliary dyskinesia
- p.Arg11= Single submitter primary ciliary dyskinesia
- p.Arg163= Single submitter primary ciliary dyskinesia
- p.Arg176= Single submitter primary ciliary dyskinesia
- p.Arg23= Single submitter primary ciliary dyskinesia
- p.Arg247= Single submitter primary ciliary dyskinesia
- p.Arg389= Single submitter primary ciliary dyskinesia
- p.Arg396= Single submitter primary ciliary dyskinesia
- p.Arg502= Single submitter primary ciliary dyskinesia
- p.Arg505= Single submitter primary ciliary dyskinesia
- p.Arg518= Single submitter primary ciliary dyskinesia
- p.Asn108= Single submitter primary ciliary dyskinesia
- p.Asn135= Single submitter primary ciliary dyskinesia
- p.Asn153= Single submitter primary ciliary dyskinesia
- p.Asn175= Single submitter primary ciliary dyskinesia
- p.Asn19= Single submitter primary ciliary dyskinesia
- p.Asn207= Single submitter primary ciliary dyskinesia
- p.Asn225= Single submitter primary ciliary dyskinesia
- p.Asn238= Single submitter primary ciliary dyskinesia
- p.Asn379= Single submitter primary ciliary dyskinesia
- p.Asn463= Single submitter primary ciliary dyskinesia
- p.Asn491= Single submitter primary ciliary dyskinesia
- p.Asn494= Single submitter primary ciliary dyskinesia
- p.Asn75= Single submitter primary ciliary dyskinesia
- p.Asn86= Single submitter
- p.Asp136= Single submitter primary ciliary dyskinesia
- p.Asp202= Single submitter primary ciliary dyskinesia
- p.Asp22= Single submitter primary ciliary dyskinesia
- p.Asp30= Single submitter primary ciliary dyskinesia
- p.Asp307= Single submitter primary ciliary dyskinesia
- p.Asp385= Single submitter primary ciliary dyskinesia
- p.Asp394= Single submitter primary ciliary dyskinesia
- p.Asp433= Single submitter primary ciliary dyskinesia
- p.Asp48= Single submitter primary ciliary dyskinesia
- p.Asp554= Single submitter primary ciliary dyskinesia
- p.Cys280= Single submitter primary ciliary dyskinesia
- p.Cys358= Single submitter primary ciliary dyskinesia
- p.Cys469= Single submitter primary ciliary dyskinesia
- p.Cys53= Single submitter primary ciliary dyskinesia
- p.Gln112= Single submitter primary ciliary dyskinesia
- p.Gln123= Single submitter primary ciliary dyskinesia
- p.Gln159= Single submitter primary ciliary dyskinesia
- p.Gln17= Single submitter primary ciliary dyskinesia
- p.Gln240= Single submitter primary ciliary dyskinesia
- p.Gln273= Single submitter primary ciliary dyskinesia
- p.Gln313= Single submitter primary ciliary dyskinesia
- p.Gln339= Single submitter primary ciliary dyskinesia
- p.Gln371= Single submitter primary ciliary dyskinesia
- p.Gln40= Single submitter primary ciliary dyskinesia
- p.Gln441= Single submitter primary ciliary dyskinesia
- p.Gln461= Single submitter primary ciliary dyskinesia
- p.Gln472= Single submitter primary ciliary dyskinesia
- p.Gln532= Single submitter primary ciliary dyskinesia
- p.Gln583= Single submitter primary ciliary dyskinesia
- p.Glu101= Single submitter primary ciliary dyskinesia
- p.Glu118= Single submitter primary ciliary dyskinesia
- p.Glu137= Single submitter primary ciliary dyskinesia
- p.Glu160= Single submitter primary ciliary dyskinesia
- p.Glu223= Single submitter primary ciliary dyskinesia
- p.Glu26= Single submitter primary ciliary dyskinesia
- p.Glu279= Single submitter primary ciliary dyskinesia
- p.Glu326= Single submitter primary ciliary dyskinesia
- p.Glu480= Single submitter primary ciliary dyskinesia
- p.Glu503= Single submitter primary ciliary dyskinesia
- p.Glu521= Single submitter
- p.Glu542= Single submitter primary ciliary dyskinesia
- p.Glu550= Single submitter primary ciliary dyskinesia
- p.Glu551= Single submitter primary ciliary dyskinesia
- p.Glu586= Single submitter primary ciliary dyskinesia
- p.Glu587= Single submitter primary ciliary dyskinesia
- p.Glu594= Single submitter primary ciliary dyskinesia
- p.Glu598= Single submitter primary ciliary dyskinesia
- p.Glu89= Single submitter primary ciliary dyskinesia
- p.Gly114= Single submitter primary ciliary dyskinesia
- p.Gly174= Single submitter primary ciliary dyskinesia
- p.Gly234= Single submitter primary ciliary dyskinesia
- p.Gly235= Single submitter primary ciliary dyskinesia
- p.Gly249= Single submitter primary ciliary dyskinesia
- p.Gly268= Single submitter primary ciliary dyskinesia
- p.Gly277= Single submitter primary ciliary dyskinesia
- p.Gly287= Single submitter primary ciliary dyskinesia
- p.Gly319= Single submitter primary ciliary dyskinesia
- p.Gly336= Single submitter primary ciliary dyskinesia
- p.Gly362= Single submitter
- p.Gly365= Single submitter primary ciliary dyskinesia
- p.Gly384= Single submitter primary ciliary dyskinesia
- p.Gly474= Single submitter primary ciliary dyskinesia
- p.Gly484= Single submitter primary ciliary dyskinesia
- p.Gly596= Single submitter primary ciliary dyskinesia
- p.His119= Single submitter primary ciliary dyskinesia
- p.His230= Single submitter primary ciliary dyskinesia
- p.His60= Single submitter primary ciliary dyskinesia
- p.His76= Single submitter primary ciliary dyskinesia
- p.Ile161= Single submitter primary ciliary dyskinesia
Uncertain significance 247
- c.1348-14G>A Multiple submitters primary ciliary dyskinesia
- c.1348-3T>C Multiple submitters primary ciliary dyskinesia
- c.467+3A>G Multiple submitters primary ciliary dyskinesia 9
- c.467+5C>T Multiple submitters primary ciliary dyskinesia
- c.864+4C>T Multiple submitters primary ciliary dyskinesia
- p.Ala109Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala179Ser Multiple submitters primary ciliary dyskinesia 9 ⚠
- p.Ala369Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala567Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg176_Lys177delinsIleValArgLeuHisPheTyrThrPhePheLeuIleThrGln Multiple submitters primary ciliary dyskinesia
- p.Arg189Gln Multiple submitters primary ciliary dyskinesia 9 ⚠
- p.Arg189Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg263Gly Multiple submitters primary ciliary dyskinesia 9 ⚠
- p.Arg347Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg347His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg389Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg459Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg515Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg518Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg518Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg66Trp Multiple submitters DNAI2-related disorder ⚠
- p.Arg95His Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn238Asp Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp197Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp385Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp443Asn Multiple submitters primary ciliary dyskinesia 9 ⚠
- p.Asp534Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp540Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Gln40His Multiple submitters primary ciliary dyskinesia ⚠
- p.Gln472Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu137Ala Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu137Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu326Asp Multiple submitters primary ciliary dyskinesia 9 ⚠
- p.Glu39Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu440Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu549Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu602Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly114Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly235Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile127Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu113Phe Multiple submitters primary ciliary dyskinesia 9 ⚠
- p.Leu168Phe Multiple submitters primary ciliary dyskinesia ⚠
- p.Lys99Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Met32Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Met334Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro377Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro377Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser115Tyr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser58Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr49Met Multiple submitters primary ciliary dyskinesia ⚠
- p.Tyr368Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Val107Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Val220Met Multiple submitters primary ciliary dyskinesia ⚠
- p.Val289Ala Multiple submitters primary ciliary dyskinesia ⚠
- p.Val418Met Multiple submitters primary ciliary dyskinesia ⚠
- p.Val4Ala Multiple submitters primary ciliary dyskinesia ⚠
- p.Val85Met Multiple submitters primary ciliary dyskinesia ⚠
- c.1347+5C>T Single submitter primary ciliary dyskinesia
- c.1347+6G>A Single submitter primary ciliary dyskinesia
- c.1348-4A>G Single submitter primary ciliary dyskinesia
- c.1494+10G>A Single submitter primary ciliary dyskinesia
- c.1495-3C>T Single submitter primary ciliary dyskinesia
- c.467+6G>A Single submitter primary ciliary dyskinesia
- c.611-2A>G Single submitter primary ciliary dyskinesia
- c.611-3T>C Single submitter primary ciliary dyskinesia 9
- c.611-5T>G Single submitter primary ciliary dyskinesia
- c.-17C>A Single submitter primary ciliary dyskinesia 9
- c.-21C>T Single submitter primary ciliary dyskinesia 9
- c.-22G>A Single submitter primary ciliary dyskinesia 9
- c.-4C>T Single submitter primary ciliary dyskinesia 9
- c.*138C>A Single submitter primary ciliary dyskinesia 9
- c.*13G>A Single submitter
- c.*19G>A Single submitter primary ciliary dyskinesia 9
- c.*272C>G Single submitter primary ciliary dyskinesia 9
- c.*299A>G Single submitter primary ciliary dyskinesia 9
- c.*339C>T Single submitter primary ciliary dyskinesia 9
- p.Ala242Pro Single submitter primary ciliary dyskinesia ⚠
- p.Ala369Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala388Asp Single submitter primary ciliary dyskinesia ⚠
- p.Ala468Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala538Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala567Asp Single submitter primary ciliary dyskinesia ⚠
- p.Arg11His Single submitter primary ciliary dyskinesia ⚠
- p.Arg163Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg263Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg295Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg347Pro Single submitter primary ciliary dyskinesia 9 ⚠
- p.Arg389Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg419Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg44Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg44Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg459Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg502Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg502His Single submitter primary ciliary dyskinesia ⚠
- p.Arg505Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg506Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg515Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg66Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg72Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg72Leu Single submitter primary ciliary dyskinesia ⚠
- p.Arg72Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg97Trp Single submitter primary ciliary dyskinesia ⚠
- p.Asn124Thr Single submitter primary ciliary dyskinesia ⚠
- p.Asn135Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn175His Single submitter primary ciliary dyskinesia ⚠
- p.Asn207del Single submitter primary ciliary dyskinesia
- p.Asn207Lys Single submitter primary ciliary dyskinesia ⚠
- p.Asn316Asp Single submitter primary ciliary dyskinesia ⚠
- p.Asn316Ile Single submitter primary ciliary dyskinesia ⚠
- p.Asn75Lys Single submitter primary ciliary dyskinesia ⚠
- p.Asp128Gly Single submitter primary ciliary dyskinesia ⚠
- p.Asp136Glu Single submitter primary ciliary dyskinesia ⚠
- p.Asp173Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp30Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp385Tyr Single submitter ⚠
- p.Asp429Glu Single submitter primary ciliary dyskinesia ⚠
- p.Asp436Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp48Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp554His Single submitter primary ciliary dyskinesia ⚠
- p.Asp603Glu Single submitter primary ciliary dyskinesia ⚠
- p.Cys465Tyr Single submitter primary ciliary dyskinesia 9 ⚠
- p.Gln112Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gln112His Single submitter primary ciliary dyskinesia ⚠
- p.Gln17Pro Single submitter primary ciliary dyskinesia ⚠
- p.Gln24Glu Single submitter primary ciliary dyskinesia ⚠
- p.Gln24Lys Single submitter primary ciliary dyskinesia ⚠
- p.Gln273Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gln40Arg Single submitter primary ciliary dyskinesia ⚠
- p.Glu137Gln Single submitter primary ciliary dyskinesia ⚠
- p.Glu254Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu259Ala Single submitter primary ciliary dyskinesia ⚠
- p.Glu279Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu312Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu326Gly Single submitter primary ciliary dyskinesia ⚠
- p.Glu338Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu393Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu453Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu516Gln Single submitter primary ciliary dyskinesia ⚠
- p.Glu530Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu551del Single submitter primary ciliary dyskinesia
- p.Glu581Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu68Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu78Gly Single submitter primary ciliary dyskinesia ⚠
- p.Glu89Lys Single submitter primary ciliary dyskinesia ⚠
- p.Gly114Phe Single submitter primary ciliary dyskinesia
- p.Gly114Val Single submitter primary ciliary dyskinesia ⚠
- p.Gly15Glu Single submitter primary ciliary dyskinesia ⚠
- p.Gly174Asp Single submitter primary ciliary dyskinesia ⚠
- p.Gly193= Single submitter primary ciliary dyskinesia
- p.Gly336Glu Single submitter primary ciliary dyskinesia ⚠
- p.Gly362Asp Single submitter primary ciliary dyskinesia ⚠
- p.Gly384Asp Single submitter primary ciliary dyskinesia ⚠
- p.Gly523Cys Single submitter primary ciliary dyskinesia ⚠
- p.Gly588Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly596Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly80Ser Single submitter primary ciliary dyskinesia ⚠
- p.His119Asn Single submitter primary ciliary dyskinesia ⚠
- p.His406Arg Single submitter primary ciliary dyskinesia ⚠
- p.His60Arg Single submitter ⚠
- p.Ile258Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ile308Val Single submitter primary ciliary dyskinesia ⚠
- p.Ile390Val Single submitter primary ciliary dyskinesia ⚠
- p.Ile400Asn Single submitter primary ciliary dyskinesia 9 ⚠
- p.Ile467Met Single submitter primary ciliary dyskinesia ⚠
- p.Ile556Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ile568Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu203= Single submitter primary ciliary dyskinesia
- p.Leu211Ile Single submitter primary ciliary dyskinesia ⚠
- p.Leu213Arg Single submitter primary ciliary dyskinesia ⚠
- p.Leu232Ile Single submitter primary ciliary dyskinesia ⚠
- p.Leu37Pro Single submitter primary ciliary dyskinesia 9 ⚠
- p.Leu446Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu455Phe Single submitter primary ciliary dyskinesia ⚠
- p.Lys227Arg Single submitter primary ciliary dyskinesia ⚠
- p.Lys449Asn Single submitter Respiratory ciliopathies including non-CF bronchiectasis ⚠
- p.Lys522Asn Single submitter primary ciliary dyskinesia ⚠
- p.Lys524Arg Single submitter primary ciliary dyskinesia ⚠
- p.Lys561Arg Single submitter primary ciliary dyskinesia ⚠
- p.Met117Thr Single submitter primary ciliary dyskinesia ⚠
- p.Met57Thr Single submitter primary ciliary dyskinesia ⚠
- p.Met69Arg Single submitter primary ciliary dyskinesia ⚠
- p.Phe14Cys Single submitter primary ciliary dyskinesia ⚠
- p.Phe325Ile Single submitter primary ciliary dyskinesia ⚠
- p.Phe437Ile Single submitter primary ciliary dyskinesia ⚠
- p.Phe437Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Phe456Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro265Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro330Thr Single submitter primary ciliary dyskinesia ⚠
- p.Pro35Ala Single submitter primary ciliary dyskinesia ⚠
- p.Pro361Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro366Ala Single submitter primary ciliary dyskinesia ⚠
- p.Pro420Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro577Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro87Leu Single submitter primary ciliary dyskinesia ⚠
- p.Ser196Asn Single submitter primary ciliary dyskinesia ⚠
- p.Ser261Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ser298Arg Single submitter primary ciliary dyskinesia ⚠
- p.Ser322Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Ser327Phe Single submitter primary ciliary dyskinesia ⚠
- p.Ser398Leu Single submitter primary ciliary dyskinesia ⚠
- p.Ser482Leu Single submitter primary ciliary dyskinesia ⚠
- p.Ser497Thr Single submitter primary ciliary dyskinesia 9 ⚠
- p.Thr285Ala Single submitter primary ciliary dyskinesia ⚠
- p.Thr301_Glu302del Single submitter primary ciliary dyskinesia
- p.Thr301Ala Single submitter primary ciliary dyskinesia ⚠
- p.Thr328Ala Single submitter primary ciliary dyskinesia 9 ⚠
- p.Thr382Met Single submitter primary ciliary dyskinesia ⚠
- p.Thr431del Single submitter
- p.Trp391Cys Single submitter primary ciliary dyskinesia ⚠
- p.Tyr199His Single submitter primary ciliary dyskinesia ⚠
- p.Tyr405Asn Single submitter primary ciliary dyskinesia ⚠
- p.Val231Ile Single submitter primary ciliary dyskinesia ⚠
- p.Val357Met Single submitter primary ciliary dyskinesia ⚠
- p.Val383Leu Single submitter primary ciliary dyskinesia ⚠
- p.Val85Leu Single submitter ⚠
- c.1494+4del No assertion criteria primary ciliary dyskinesia
- c.1494+7A>C No assertion criteria primary ciliary dyskinesia
- c.183+10T>A No assertion criteria primary ciliary dyskinesia
- c.865-3C>A No assertion criteria primary ciliary dyskinesia
- c.-3A>G No assertion criteria primary ciliary dyskinesia
- c.-8C>T No assertion criteria primary ciliary dyskinesia
- c.*10T>C No assertion criteria primary ciliary dyskinesia
- c.*7G>C No assertion criteria primary ciliary dyskinesia
- p.Ala413Val No assertion criteria primary ciliary dyskinesia ⚠
- p.Ala496Asp No assertion criteria primary ciliary dyskinesia ⚠
- p.Ala567Pro No assertion criteria primary ciliary dyskinesia ⚠
- p.Arg502Pro No assertion criteria primary ciliary dyskinesia ⚠
- p.Arg95Cys No assertion criteria primary ciliary dyskinesia ⚠
- p.Asn34= No assertion criteria primary ciliary dyskinesia
- p.Asp146= No assertion criteria primary ciliary dyskinesia
- p.Asp293Tyr No assertion criteria primary ciliary dyskinesia ⚠
- p.Cys280Tyr No assertion criteria primary ciliary dyskinesia ⚠
- p.Gln52Pro No assertion criteria primary ciliary dyskinesia ⚠
- p.Gln532_Thr533delinsPro No assertion criteria primary ciliary dyskinesia
- p.Glu536Lys No assertion criteria primary ciliary dyskinesia ⚠
- p.Ile270Met No assertion criteria primary ciliary dyskinesia ⚠
- p.Ile31= No assertion criteria primary ciliary dyskinesia
- p.Ile3Leu No assertion criteria primary ciliary dyskinesia ⚠
- p.Leu219Phe No assertion criteria primary ciliary dyskinesia ⚠
- p.Lys177Asn No assertion criteria primary ciliary dyskinesia ⚠
- p.Ser284Phe No assertion criteria primary ciliary dyskinesia ⚠
- p.Ser416Arg No assertion criteria primary ciliary dyskinesia ⚠
- p.Ser486Cys No assertion criteria primary ciliary dyskinesia ⚠
- p.Ser54Leu No assertion criteria primary ciliary dyskinesia ⚠
- p.Thr426Ile No assertion criteria primary ciliary dyskinesia ⚠
- p.Thr49Ser No assertion criteria primary ciliary dyskinesia ⚠
- p.Tyr133Cys No assertion criteria primary ciliary dyskinesia ⚠