DNAAF5 — 851 ClinVar variants
All ClinVar germline DNAAF5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 367 flagged for review →
34 Pathogenic · 6 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 23 Conflicting · 58 Benign · 20 Benign/Likely benign · 356 Likely benign · 346 Uncertain significance
Full DNAAF5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 367
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 11
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DNAAF5 p.Ala530Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala659Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala74Glu
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Arg263Gln
Conflicting
Single submitter
primary ciliary dyskinesia 18
-
DNAAF5 p.Arg496His
Conflicting
Single submitter
primary ciliary dyskinesia 18
-
DNAAF5 p.Gly599Glu
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ile809Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Leu4Pro
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Tyr782Cys
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Val129Leu
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Val606Met
Conflicting
Single submitter
primary ciliary dyskinesia
Predictors lean, ClinVar uncertain 152
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 152
-
DNAAF5 p.Ala131Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Ala394Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Ala459Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 18
-
DNAAF5 p.Ala528Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Ala572Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 18
-
DNAAF5 p.Ala572Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 18
-
DNAAF5 p.Ala601Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Ala692Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Arg224His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Arg355Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Arg403Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Arg723His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Arg792Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Asn295Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Asp278Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Asp323Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Asp370Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Asp537Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Asp576Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Asp87Tyr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Cys138Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Cys722Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Gln147Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Glu23Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Glu8Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Gly127Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Gly150Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Gly271Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Gly534Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Gly818Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.His580Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.His604Tyr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Leu176Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Leu208Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Leu276Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Leu529His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 18
-
DNAAF5 p.Pro340Ala
Uncertain significance
Multiple submitters
DNAAF5-related disorder
-
DNAAF5 p.Ser205Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Ser817Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Val146Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Val416Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 18
-
DNAAF5 p.Val605Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Val6Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Val851Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Ala180Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala190Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala19Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala226Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala233Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala415Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala476Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala515Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala64Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala94Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Arg109Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Arg263Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Arg279Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Arg279His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Arg344Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Arg350Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Arg376Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Arg54Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Arg635Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Arg674Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Arg723Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Asn641Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Asn726Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Asn726Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Asp245Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Asp296Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Asp367Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Asp370Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Asp491Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Asp511Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Asp537His
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAAF5 p.Asp697Asn Uncertain significance Single submitter
-
DNAAF5 p.Asp697Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Asp754Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Asp800Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Cys173Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Cys173Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Cys841Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Gln195His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Gln469Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAAF5 p.Gln855His Uncertain significance Single submitter
-
DNAAF5 p.Glu136Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAAF5 p.Glu139Gly Uncertain significance Single submitter
-
DNAAF5 p.Glu391Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Glu59Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Glu651Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Glu793Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Glu842Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Gly270Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Gly313Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Gly348Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Gly348Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Gly45Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Gly513Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Gly5Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Gly5Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Gly733Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Gly818Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Gly91Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.His200Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.His249Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.His389Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.His665Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.His833Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAAF5 p.His98Arg Uncertain significance Single submitter
-
DNAAF5 p.Ile216Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ile484Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ile526Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ile563Met
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ile744Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Leu155Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Leu444Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Leu468His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Leu748Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Leu771Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Lys445Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Lys775Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Met203Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAAF5 p.Met548Thr Uncertain significance Single submitter
- DNAAF5 p.Met703Leu Uncertain significance Single submitter
-
DNAAF5 p.Met716Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Met735Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Pro44Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Pro596Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ser174Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ser186Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ser293Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ser307Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ser419Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ser679Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Thr215Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Thr421Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Thr637Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Thr652Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Thr675Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Thr736Met
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Trp682Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Tyr280Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Tyr493Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Tyr791His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Val10Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Val182Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Val346Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Val427Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Val514Met
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Val549Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
Predictors split 204
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 204
-
DNAAF5 p.Ala152Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Ala167Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Ala424Thr
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Ala666Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Ala666Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Ala683Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Ala94Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Ala96Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Arg172His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Arg253Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Arg263Trp
Likely benign
Multiple submitters
primary ciliary dyskinesia 18
-
DNAAF5 p.Arg277His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Arg344His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Arg403Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Arg48Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Arg560Cys
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Arg560His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 18
-
DNAAF5 p.Arg622His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Arg668Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Arg751Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Arg751His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Arg836Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Asp411Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Cys500Phe
Pathogenic/Likely pathogenic
Multiple submitters
primary ciliary dyskinesia 18
-
DNAAF5 p.Gln214Glu
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia 18
-
DNAAF5 p.Gln214His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Gln407His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Glu140Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Glu17Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Glu23Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Glu297Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 18
-
DNAAF5 p.Glu412Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Glu478Lys
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Glu827Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Gly210Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Ile440Ser
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Leu426Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Leu479Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Leu690Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Pro128Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Pro178Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Pro448Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Pro619Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 18
-
DNAAF5 p.Pro72Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Pro801Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Ser267Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Ser516Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Ser837Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Thr395Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Thr533Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Thr608Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Trp73Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Val258Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Val268Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Val298Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 18
-
DNAAF5 p.Val416Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Val417Ile
Likely benign
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Val427Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Val507Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Val522Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Val755Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF5 p.Ala120Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala123Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala12Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala12Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala137Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala144Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala152Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala161Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala192Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala196Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala19Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala22Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala233Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala264Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala2Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala3Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala424Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala459Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala503Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAAF5 p.Ala515Gly Uncertain significance Single submitter
-
DNAAF5 p.Ala539Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala579Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala63Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala64Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala64Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala671Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala672Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala762Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala7Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala7Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Ala808Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Arg132Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Arg169Cys
Uncertain significance
Single submitter
congenital anomaly of kidney and urinary tract
-
DNAAF5 p.Arg172Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Arg184Ser
Conflicting
Single submitter
primary ciliary dyskinesia 18
-
DNAAF5 p.Arg277Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Arg29His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Arg343Cys
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Arg343His
Likely benign
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Arg350Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Arg461Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Arg48Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Arg496Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Arg569Gln
Likely benign
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Arg569Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Arg668Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Arg723Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Arg75Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Arg80Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Arg836His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Arg83Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Asp112Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Asp713Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Asp758Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia 18
-
DNAAF5 p.Asp758Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Cys512Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Cys722Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Gln214Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Gln418Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Gln643Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Gln788His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Gln849Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Glu185Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Glu300Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Glu321Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Glu399Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Glu413Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Glu58Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Glu59Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Glu793Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Glu8Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Gly150Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Gly157Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Gly232Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Gly240Arg
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Gly452Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Gly551Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Gly644Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.His393Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.His797Tyr
Likely benign
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.His98Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Leu171Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Leu27Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Leu357Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Leu499Met
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Leu658Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Leu662Met
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Leu81Met
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF5 p.Lys780Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
All DNAAF5 variants
Pathogenic 34
- p.Arg792Ter Multiple submitters primary ciliary dyskinesia
- c.1784-1G>T Single submitter primary ciliary dyskinesia
- c.1932-2A>C Single submitter primary ciliary dyskinesia
- p.Ala122fs Single submitter primary ciliary dyskinesia
- p.Ala144fs Single submitter primary ciliary dyskinesia
- p.Ala672fs Single submitter primary ciliary dyskinesia
- p.Ala764fs Single submitter primary ciliary dyskinesia
- p.Arg109fs Single submitter primary ciliary dyskinesia
- p.Arg465Ter Single submitter primary ciliary dyskinesia
- p.Arg718Ter Single submitter primary ciliary dyskinesia
- p.Arg83fs Single submitter primary ciliary dyskinesia
- p.Asn320fs Single submitter primary ciliary dyskinesia
- p.Cys156Ter Single submitter primary ciliary dyskinesia
- p.Gln315Ter Single submitter primary ciliary dyskinesia
- p.Gln407fs Single submitter primary ciliary dyskinesia
- p.Gln593fs Single submitter primary ciliary dyskinesia
- p.Glu229Ter Single submitter primary ciliary dyskinesia
- p.Gly271fs Single submitter primary ciliary dyskinesia
- p.His163fs Single submitter primary ciliary dyskinesia
- p.His236fs Single submitter primary ciliary dyskinesia
- p.His249fs Single submitter primary ciliary dyskinesia
- p.Leu104fs Single submitter primary ciliary dyskinesia
- p.Leu117fs Single submitter primary ciliary dyskinesia
- p.Leu175fs Single submitter primary ciliary dyskinesia
- p.Lys378fs Single submitter primary ciliary dyskinesia
- p.Phe255fs Single submitter primary ciliary dyskinesia
- p.Phe330fs Single submitter primary ciliary dyskinesia
- p.Ser679fs Single submitter primary ciliary dyskinesia 18
- p.Ser785fs Single submitter primary ciliary dyskinesia
- p.Trp316Ter Single submitter primary ciliary dyskinesia
- p.Trp73Ter Single submitter primary ciliary dyskinesia
- p.Tyr782Ter Single submitter primary ciliary dyskinesia
- p.Val774fs Single submitter primary ciliary dyskinesia
- p.Ala19fs No assertion criteria primary ciliary dyskinesia 18
Pathogenic/Likely pathogenic 6
- p.Arg253Ter Multiple submitters primary ciliary dyskinesia 18
- p.Cys500Phe Multiple submitters primary ciliary dyskinesia 18 ⚠
- p.Leu795Pro Multiple submitters primary ciliary dyskinesia
- p.Met703fs Multiple submitters primary ciliary dyskinesia
- p.Ser817fs Multiple submitters primary ciliary dyskinesia 18
- p.Trp309Ter Multiple submitters primary ciliary dyskinesia
Likely pathogenic 8
- c.1470+1G>A Multiple submitters primary ciliary dyskinesia
- c.1615-2A>G Multiple submitters primary ciliary dyskinesia
- p.Cys420Arg Multiple submitters primary ciliary dyskinesia
- c.1258-2A>G Single submitter primary ciliary dyskinesia
- c.1471-1G>A Single submitter primary ciliary dyskinesia
- c.595+1G>C Single submitter primary ciliary dyskinesia
- p.Ala331fs Single submitter primary ciliary dyskinesia 18
- p.Leu479fs Single submitter
Conflicting classifications of pathogenicity 23
- c.1471-12G>A Single submitter primary ciliary dyskinesia
- p.Ala233Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala530Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala659Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala74Glu Single submitter primary ciliary dyskinesia ⚠
- p.Arg184Ser Single submitter primary ciliary dyskinesia 18 ⚠
- p.Arg263Gln Single submitter primary ciliary dyskinesia 18 ⚠
- p.Arg343Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg496His Single submitter primary ciliary dyskinesia 18 ⚠
- p.Arg622= Single submitter primary ciliary dyskinesia
- p.Glu185fs Single submitter primary ciliary dyskinesia
- p.Gly240Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly599Glu Single submitter primary ciliary dyskinesia ⚠
- p.Ile809Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu4Pro Single submitter primary ciliary dyskinesia ⚠
- p.Thr443Met Single submitter primary ciliary dyskinesia ⚠
- p.Thr669Ile Single submitter primary ciliary dyskinesia ⚠
- p.Thr675Met Single submitter primary ciliary dyskinesia 18 ⚠
- p.Tyr782Cys Single submitter primary ciliary dyskinesia ⚠
- p.Val129Leu Single submitter primary ciliary dyskinesia ⚠
- p.Val261Ile Single submitter primary ciliary dyskinesia 18 ⚠
- p.Val312Ile Single submitter primary ciliary dyskinesia ⚠
- p.Val606Met Single submitter primary ciliary dyskinesia ⚠
Benign 58
- c.1257+13A>G Multiple submitters primary ciliary dyskinesia 18
- c.1471-13C>T Multiple submitters primary ciliary dyskinesia
- c.1615-101G>A Multiple submitters primary ciliary dyskinesia 18
- c.1932-35G>A Multiple submitters primary ciliary dyskinesia 18
- c.1932-67T>C Multiple submitters primary ciliary dyskinesia 18
- c.2082+32C>G Multiple submitters primary ciliary dyskinesia 18
- c.2083-31G>A Multiple submitters primary ciliary dyskinesia 18
- c.2240-12C>T Multiple submitters primary ciliary dyskinesia
- c.2432-40T>C Multiple submitters primary ciliary dyskinesia 18
- c.905+107T>C Multiple submitters primary ciliary dyskinesia 18
- c.906-125T>G Multiple submitters primary ciliary dyskinesia 18
- c.906-4T>G Multiple submitters primary ciliary dyskinesia 18
- c.*139A>G Multiple submitters primary ciliary dyskinesia 18
- p.Ala24= Multiple submitters primary ciliary dyskinesia
- p.Ala482= Multiple submitters primary ciliary dyskinesia
- p.Arg743Lys Multiple submitters primary ciliary dyskinesia 18
- p.Leu352= Multiple submitters primary ciliary dyskinesia 18
- p.Leu824= Multiple submitters primary ciliary dyskinesia
- p.Phe237= Multiple submitters primary ciliary dyskinesia
- p.Ser423= Multiple submitters primary ciliary dyskinesia
- p.Val632Ala Multiple submitters primary ciliary dyskinesia 18
- p.Val787= Multiple submitters primary ciliary dyskinesia
- c.1024+310G>C Single submitter
- c.1025-134C>T Single submitter
- c.1025-272G>A Single submitter
- c.1257+118C>T Single submitter
- c.1257+170C>T Single submitter
- c.1258-160C>T Single submitter
- c.1470+248G>A Single submitter
- c.1470+252C>T Single submitter
- c.1470+274C>T Single submitter
- c.1471-179C>T Single submitter
- c.1614+259C>G Single submitter
- c.1614+322T>G Single submitter
- c.1615-199C>T Single submitter
- c.1784-1298C>G Single submitter primary ciliary dyskinesia 18
- c.1784-188T>C Single submitter
- c.1784-44G>A Single submitter
- c.1784-53C>T Single submitter
- c.1784-54G>T Single submitter
- c.1931+214C>T Single submitter
- c.1931+251T>C Single submitter
- c.2083-214G>A Single submitter
- c.2240-113T>C Single submitter
- c.2432-149T>C Single submitter
- c.2432-155G>A Single submitter
- c.595+30C>A Single submitter
- c.596-104G>T Single submitter
- c.596-108A>G Single submitter
- c.596-116A>G Single submitter
- c.781-336C>T Single submitter
- c.781-33A>T Single submitter
- c.781-88G>A Single submitter
- c.905+15G>A Single submitter primary ciliary dyskinesia
- c.*204G>A Single submitter
- p.Arg465Gln Single submitter primary ciliary dyskinesia
- p.Asn239= Single submitter primary ciliary dyskinesia
- p.Asp807Gly Single submitter primary ciliary dyskinesia
Benign/Likely benign 20
- c.1024+11G>T Multiple submitters primary ciliary dyskinesia
- c.1257+19G>T Multiple submitters primary ciliary dyskinesia
- c.2082+8del Multiple submitters primary ciliary dyskinesia
- p.Ala415= Multiple submitters primary ciliary dyskinesia
- p.Ala424Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala457= Multiple submitters primary ciliary dyskinesia
- p.Arg172= Multiple submitters primary ciliary dyskinesia
- p.Arg560Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg569= Multiple submitters primary ciliary dyskinesia
- p.Asn778= Multiple submitters primary ciliary dyskinesia
- p.Asp296= Multiple submitters primary ciliary dyskinesia 18
- p.Gln214Glu Multiple submitters primary ciliary dyskinesia 18 ⚠
- p.Gln855Arg Multiple submitters primary ciliary dyskinesia
- p.Glu478Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly513= Multiple submitters primary ciliary dyskinesia
- p.His236Leu Multiple submitters primary ciliary dyskinesia
- p.Ile440Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile563= Multiple submitters primary ciliary dyskinesia
- p.Ser307Arg Multiple submitters primary ciliary dyskinesia 18
- p.Ser573Leu Multiple submitters primary ciliary dyskinesia
Likely benign 356
Showing the top 300 by review status; the full set is in the sitemap.
- c.1024+10C>T Multiple submitters primary ciliary dyskinesia 18
- c.1024+13G>A Multiple submitters primary ciliary dyskinesia
- c.1025-7G>A Multiple submitters primary ciliary dyskinesia
- c.1258-4G>A Multiple submitters primary ciliary dyskinesia
- c.1258-66G>A Multiple submitters
- c.1783+10C>T Multiple submitters primary ciliary dyskinesia
- c.1784-1273G>A Multiple submitters
- c.1931+8C>T Multiple submitters primary ciliary dyskinesia 18
- c.2239+144C>T Multiple submitters
- c.595+18C>T Multiple submitters primary ciliary dyskinesia
- c.596-17G>A Multiple submitters primary ciliary dyskinesia
- c.780+167A>G Multiple submitters
- c.905+121G>A Multiple submitters
- p.Ala144= Multiple submitters primary ciliary dyskinesia
- p.Ala152= Multiple submitters primary ciliary dyskinesia
- p.Ala159= Multiple submitters primary ciliary dyskinesia
- p.Ala264= Multiple submitters primary ciliary dyskinesia
- p.Ala763= Multiple submitters primary ciliary dyskinesia
- p.Ala777Thr Multiple submitters primary ciliary dyskinesia
- p.Ala830= Multiple submitters primary ciliary dyskinesia
- p.Ala9= Multiple submitters primary ciliary dyskinesia
- p.Ala94= Multiple submitters primary ciliary dyskinesia
- p.Arg142= Multiple submitters primary ciliary dyskinesia
- p.Arg263Trp Multiple submitters primary ciliary dyskinesia 18 ⚠
- p.Arg376= Multiple submitters primary ciliary dyskinesia
- p.Arg47= Multiple submitters primary ciliary dyskinesia
- p.Asp165= Multiple submitters primary ciliary dyskinesia
- p.Asp311= Multiple submitters primary ciliary dyskinesia
- p.Asp491= Multiple submitters primary ciliary dyskinesia
- p.Asp521= Multiple submitters primary ciliary dyskinesia
- p.Asp754= Multiple submitters primary ciliary dyskinesia
- p.Cys841= Multiple submitters primary ciliary dyskinesia
- p.Glu842= Multiple submitters primary ciliary dyskinesia
- p.Gly551= Multiple submitters primary ciliary dyskinesia
- p.Gly61= Multiple submitters primary ciliary dyskinesia
- p.Gly71= Multiple submitters primary ciliary dyskinesia
- p.His604= Multiple submitters primary ciliary dyskinesia
- p.Ile360= Multiple submitters primary ciliary dyskinesia
- p.Ile563Val Multiple submitters primary ciliary dyskinesia
- p.Ile720= Multiple submitters primary ciliary dyskinesia
- p.Leu114= Multiple submitters primary ciliary dyskinesia
- p.Leu149= Multiple submitters primary ciliary dyskinesia
- p.Leu328= Multiple submitters primary ciliary dyskinesia
- p.Leu35= Multiple submitters primary ciliary dyskinesia
- p.Leu361= Multiple submitters primary ciliary dyskinesia
- p.Leu38= Multiple submitters primary ciliary dyskinesia
- p.Leu517= Multiple submitters primary ciliary dyskinesia
- p.Leu598= Multiple submitters primary ciliary dyskinesia
- p.Leu77= Multiple submitters primary ciliary dyskinesia
- p.Pro259= Multiple submitters primary ciliary dyskinesia
- p.Pro332= Multiple submitters primary ciliary dyskinesia 18
- p.Pro470= Multiple submitters primary ciliary dyskinesia
- p.Pro582= Multiple submitters primary ciliary dyskinesia
- p.Pro619= Multiple submitters primary ciliary dyskinesia
- p.Pro72= Multiple submitters primary ciliary dyskinesia
- p.Ser616= Multiple submitters primary ciliary dyskinesia
- p.Ser714= Multiple submitters primary ciliary dyskinesia
- p.Thr395= Multiple submitters primary ciliary dyskinesia
- p.Thr429= Multiple submitters primary ciliary dyskinesia
- p.Thr443= Multiple submitters primary ciliary dyskinesia
- p.Thr533= Multiple submitters primary ciliary dyskinesia
- p.Thr542= Multiple submitters primary ciliary dyskinesia
- p.Thr854= Multiple submitters primary ciliary dyskinesia
- p.Tyr280= Multiple submitters primary ciliary dyskinesia
- p.Val377= Multiple submitters primary ciliary dyskinesia
- p.Val417Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Val605= Multiple submitters primary ciliary dyskinesia
- c.1024+10C>A Single submitter primary ciliary dyskinesia
- c.1024+11G>A Single submitter primary ciliary dyskinesia
- c.1024+12C>A Single submitter primary ciliary dyskinesia
- c.1024+19G>A Single submitter primary ciliary dyskinesia
- c.1025-14C>T Single submitter primary ciliary dyskinesia
- c.1025-7G>C Single submitter primary ciliary dyskinesia
- c.1025-8C>T Single submitter primary ciliary dyskinesia
- c.1257+11G>A Single submitter primary ciliary dyskinesia
- c.1257+16C>G Single submitter primary ciliary dyskinesia
- c.1257+16C>T Single submitter primary ciliary dyskinesia
- c.1258-11C>T Single submitter primary ciliary dyskinesia
- c.1258-17A>G Single submitter primary ciliary dyskinesia
- c.1258-4G>T Single submitter primary ciliary dyskinesia
- c.1258-5C>T Single submitter primary ciliary dyskinesia
- c.1258-7C>A Single submitter primary ciliary dyskinesia
- c.1470+12T>G Single submitter primary ciliary dyskinesia
- c.1470+168C>T Single submitter
- c.1470+63A>G Single submitter
- c.1470+9A>G Single submitter primary ciliary dyskinesia
- c.1471-11G>A Single submitter primary ciliary dyskinesia
- c.1471-14C>G Single submitter primary ciliary dyskinesia
- c.1471-7C>T Single submitter primary ciliary dyskinesia
- c.1614+12_1614+14del Single submitter primary ciliary dyskinesia
- c.1614+13G>A Single submitter primary ciliary dyskinesia
- c.1783+12C>G Single submitter primary ciliary dyskinesia
- c.1783+12C>T Single submitter primary ciliary dyskinesia
- c.1783+13G>A Single submitter primary ciliary dyskinesia
- c.1783+13G>T Single submitter primary ciliary dyskinesia
- c.1783+16_1783+19del Single submitter primary ciliary dyskinesia
- c.1783+7C>T Single submitter primary ciliary dyskinesia
- c.1783+85C>T Single submitter
- c.1783+8G>A Single submitter primary ciliary dyskinesia
- c.1784-14_1784-13del Single submitter primary ciliary dyskinesia
- c.1784-14G>A Single submitter primary ciliary dyskinesia
- c.1784-19C>T Single submitter primary ciliary dyskinesia
- c.1784-258A>G Single submitter
- c.1784-283G>A Single submitter
- c.1931+12C>A Single submitter primary ciliary dyskinesia
- c.1931+9G>A Single submitter primary ciliary dyskinesia
- c.1932-14C>T Single submitter primary ciliary dyskinesia
- c.1932-15C>T Single submitter primary ciliary dyskinesia
- c.1932-16_1932-15del Single submitter primary ciliary dyskinesia
- c.1932-19C>T Single submitter primary ciliary dyskinesia
- c.1932-20C>T Single submitter primary ciliary dyskinesia
- c.1932-307C>T Single submitter
- c.1932-9C>T Single submitter primary ciliary dyskinesia
- c.2082+236C>T Single submitter
- c.2083-15_2083-13dup Single submitter primary ciliary dyskinesia
- c.2083-17G>A Single submitter primary ciliary dyskinesia
- c.2239+8A>G Single submitter primary ciliary dyskinesia
- c.2240-16C>T Single submitter primary ciliary dyskinesia
- c.2240-18C>T Single submitter primary ciliary dyskinesia
- c.2431+10C>T Single submitter primary ciliary dyskinesia
- c.2431+11G>A Single submitter primary ciliary dyskinesia
- c.2431+19G>A Single submitter primary ciliary dyskinesia
- c.2431+262G>A Single submitter
- c.2431+9_2431+11dup Single submitter primary ciliary dyskinesia
- c.2432-227G>T Single submitter
- c.2432-258_2432-182del Single submitter
- c.2432-316C>T Single submitter
- c.595+10C>G Single submitter
- c.595+116C>T Single submitter
- c.595+13G>A Single submitter primary ciliary dyskinesia
- c.595+14G>A Single submitter primary ciliary dyskinesia
- c.595+15C>T Single submitter primary ciliary dyskinesia
- c.595+20C>T Single submitter primary ciliary dyskinesia
- c.595+8C>T Single submitter primary ciliary dyskinesia
- c.595+9C>G Single submitter primary ciliary dyskinesia
- c.596-11C>G Single submitter primary ciliary dyskinesia
- c.596-19G>A Single submitter primary ciliary dyskinesia
- c.596-5C>T Single submitter primary ciliary dyskinesia
- c.780+10G>T Single submitter primary ciliary dyskinesia
- c.780+14C>T Single submitter primary ciliary dyskinesia
- c.781-12T>C Single submitter primary ciliary dyskinesia
- c.781-13C>T Single submitter primary ciliary dyskinesia
- c.781-160G>C Single submitter
- c.781-301A>G Single submitter
- c.781-4G>A Single submitter primary ciliary dyskinesia
- c.781-5C>T Single submitter primary ciliary dyskinesia
- c.781-5del Single submitter primary ciliary dyskinesia
- c.781-8A>G Single submitter primary ciliary dyskinesia
- c.781-9C>T Single submitter primary ciliary dyskinesia
- c.905+14C>A Single submitter primary ciliary dyskinesia
- c.905+14C>T Single submitter primary ciliary dyskinesia
- c.905+18C>T Single submitter primary ciliary dyskinesia
- c.905+19G>A Single submitter primary ciliary dyskinesia
- c.905+48G>A Single submitter
- c.905+7G>A Single submitter primary ciliary dyskinesia
- c.906-14_906-11del Single submitter primary ciliary dyskinesia
- c.906-14C>T Single submitter primary ciliary dyskinesia
- c.906-4T>A Single submitter primary ciliary dyskinesia
- c.906-5C>T Single submitter
- p.Ala108= Single submitter primary ciliary dyskinesia
- p.Ala113= Single submitter primary ciliary dyskinesia
- p.Ala120= Single submitter primary ciliary dyskinesia
- p.Ala122= Single submitter primary ciliary dyskinesia
- p.Ala123= Single submitter primary ciliary dyskinesia
- p.Ala158= Single submitter primary ciliary dyskinesia
- p.Ala180= Single submitter primary ciliary dyskinesia
- p.Ala181= Single submitter primary ciliary dyskinesia
- p.Ala181= Single submitter primary ciliary dyskinesia
- p.Ala194= Single submitter primary ciliary dyskinesia
- p.Ala226= Single submitter primary ciliary dyskinesia
- p.Ala233= Single submitter primary ciliary dyskinesia
- p.Ala251= Single submitter primary ciliary dyskinesia
- p.Ala390= Single submitter primary ciliary dyskinesia
- p.Ala40= Single submitter primary ciliary dyskinesia
- p.Ala450= Single submitter primary ciliary dyskinesia
- p.Ala49= Single submitter primary ciliary dyskinesia
- p.Ala547= Single submitter primary ciliary dyskinesia
- p.Ala572= Single submitter primary ciliary dyskinesia
- p.Ala597= Single submitter primary ciliary dyskinesia
- p.Ala63= Single submitter primary ciliary dyskinesia
- p.Ala659= Single submitter primary ciliary dyskinesia
- p.Ala672= Single submitter primary ciliary dyskinesia
- p.Ala676= Single submitter primary ciliary dyskinesia
- p.Ala677= Single submitter primary ciliary dyskinesia
- p.Ala779= Single submitter primary ciliary dyskinesia
- p.Arg105= Single submitter primary ciliary dyskinesia
- p.Arg109= Single submitter primary ciliary dyskinesia
- p.Arg111= Single submitter primary ciliary dyskinesia
- p.Arg33= Single submitter primary ciliary dyskinesia
- p.Arg343His Single submitter primary ciliary dyskinesia ⚠
- p.Arg350= Single submitter primary ciliary dyskinesia
- p.Arg461= Single submitter
- p.Arg496= Single submitter primary ciliary dyskinesia
- p.Arg569Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg610= Single submitter primary ciliary dyskinesia
- p.Arg803= Single submitter primary ciliary dyskinesia
- p.Arg83= Single submitter primary ciliary dyskinesia
- p.Asn295= Single submitter primary ciliary dyskinesia
- p.Asn726= Single submitter primary ciliary dyskinesia
- p.Asp244= Single submitter primary ciliary dyskinesia
- p.Asp245= Single submitter primary ciliary dyskinesia
- p.Asp257= Single submitter primary ciliary dyskinesia
- p.Asp799= Single submitter primary ciliary dyskinesia
- p.Cys156Gly Single submitter primary ciliary dyskinesia
- p.Cys173= Single submitter primary ciliary dyskinesia
- p.Cys463= Single submitter primary ciliary dyskinesia
- p.Gln481= Single submitter primary ciliary dyskinesia
- p.Gln540= Single submitter primary ciliary dyskinesia
- p.Gln663= Single submitter primary ciliary dyskinesia
- p.Gln70= Single submitter primary ciliary dyskinesia
- p.Gln772= Single submitter primary ciliary dyskinesia
- p.Gln788= Single submitter primary ciliary dyskinesia
- p.Glu17= Single submitter primary ciliary dyskinesia
- p.Glu206= Single submitter primary ciliary dyskinesia
- p.Glu23= Single submitter primary ciliary dyskinesia
- p.Glu26= Single submitter primary ciliary dyskinesia
- p.Glu310= Single submitter primary ciliary dyskinesia
- p.Glu321= Single submitter primary ciliary dyskinesia
- p.Glu51= Single submitter primary ciliary dyskinesia
- p.Glu568= Single submitter primary ciliary dyskinesia
- p.Glu59= Single submitter primary ciliary dyskinesia
- p.Glu739= Single submitter primary ciliary dyskinesia
- p.Glu8= Single submitter primary ciliary dyskinesia
- p.Gly103= Single submitter primary ciliary dyskinesia
- p.Gly157= Single submitter primary ciliary dyskinesia
- p.Gly210= Single submitter primary ciliary dyskinesia
- p.Gly232= Single submitter primary ciliary dyskinesia
- p.Gly270= Single submitter primary ciliary dyskinesia
- p.Gly5= Single submitter primary ciliary dyskinesia
- p.Gly595= Single submitter primary ciliary dyskinesia
- p.Gly599= Single submitter primary ciliary dyskinesia
- p.Gly733= Single submitter primary ciliary dyskinesia
- p.Gly734Ser Single submitter primary ciliary dyskinesia
- p.His341= Single submitter primary ciliary dyskinesia
- p.His366= Single submitter primary ciliary dyskinesia
- p.His393= Single submitter primary ciliary dyskinesia
- p.His509Arg Single submitter primary ciliary dyskinesia
- p.His797Tyr Single submitter primary ciliary dyskinesia ⚠
- p.His847= Single submitter primary ciliary dyskinesia
- p.Ile209= Single submitter primary ciliary dyskinesia
- p.Ile526Val Single submitter primary ciliary dyskinesia
- p.Ile590Val Single submitter primary ciliary dyskinesia
- p.Ile724= Single submitter primary ciliary dyskinesia
- p.Ile742= Single submitter primary ciliary dyskinesia
- p.Leu100= Single submitter primary ciliary dyskinesia
- p.Leu117= Single submitter primary ciliary dyskinesia
- p.Leu141= Single submitter primary ciliary dyskinesia
- p.Leu155= Single submitter primary ciliary dyskinesia
- p.Leu168= Single submitter primary ciliary dyskinesia
- p.Leu176= Single submitter primary ciliary dyskinesia
- p.Leu208= Single submitter
- p.Leu27= Single submitter primary ciliary dyskinesia
- p.Leu273= Single submitter primary ciliary dyskinesia
- p.Leu274= Single submitter
- p.Leu289= Single submitter primary ciliary dyskinesia
- p.Leu294= Single submitter primary ciliary dyskinesia
- p.Leu314= Single submitter primary ciliary dyskinesia
- p.Leu324= Single submitter primary ciliary dyskinesia
- p.Leu364= Single submitter primary ciliary dyskinesia
- p.Leu4= Single submitter primary ciliary dyskinesia
- p.Leu405= Single submitter primary ciliary dyskinesia
- p.Leu437= Single submitter primary ciliary dyskinesia
- p.Leu479= Single submitter primary ciliary dyskinesia
- p.Leu494= Single submitter primary ciliary dyskinesia
- p.Leu499= Single submitter primary ciliary dyskinesia
- p.Leu523= Single submitter primary ciliary dyskinesia
- p.Leu53= Single submitter primary ciliary dyskinesia
- p.Leu546= Single submitter primary ciliary dyskinesia
- p.Leu566= Single submitter primary ciliary dyskinesia
- p.Leu613= Single submitter primary ciliary dyskinesia
- p.Leu625= Single submitter primary ciliary dyskinesia
- p.Leu629= Single submitter primary ciliary dyskinesia
- p.Leu634= Single submitter
- p.Leu650= Single submitter primary ciliary dyskinesia
- p.Leu684= Single submitter primary ciliary dyskinesia
- p.Leu690= Single submitter primary ciliary dyskinesia
- p.Leu707= Single submitter primary ciliary dyskinesia
- p.Leu710= Single submitter primary ciliary dyskinesia
- p.Leu719= Single submitter primary ciliary dyskinesia
- p.Leu78= Single submitter primary ciliary dyskinesia
- p.Leu790= Single submitter primary ciliary dyskinesia
- p.Leu795= Single submitter primary ciliary dyskinesia
- p.Leu81= Single submitter primary ciliary dyskinesia
- p.Leu845= Single submitter primary ciliary dyskinesia
- p.Leu99= Single submitter primary ciliary dyskinesia
- p.Lys561= Single submitter primary ciliary dyskinesia
- p.Lys655= Single submitter primary ciliary dyskinesia
- p.Phe179= Single submitter primary ciliary dyskinesia
- p.Phe430= Single submitter primary ciliary dyskinesia
- p.Pro110= Single submitter primary ciliary dyskinesia
- p.Pro115= Single submitter primary ciliary dyskinesia
- p.Pro119= Single submitter primary ciliary dyskinesia
- p.Pro128= Single submitter primary ciliary dyskinesia
- p.Pro162= Single submitter primary ciliary dyskinesia
- p.Pro178= Single submitter primary ciliary dyskinesia
- p.Pro178= Single submitter primary ciliary dyskinesia
- p.Pro335= Single submitter primary ciliary dyskinesia
- p.Pro44= Single submitter primary ciliary dyskinesia
- p.Pro603= Single submitter primary ciliary dyskinesia
- p.Pro801= Single submitter primary ciliary dyskinesia
Uncertain significance 346
Showing the top 300 by review status; the full set is in the sitemap.
- c.780+6T>A Multiple submitters primary ciliary dyskinesia
- c.905+4C>T Multiple submitters primary ciliary dyskinesia
- p.Ala131Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala152Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala167Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala394Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala459Thr Multiple submitters primary ciliary dyskinesia 18 ⚠
- p.Ala528Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala572Thr Multiple submitters primary ciliary dyskinesia 18 ⚠
- p.Ala572Val Multiple submitters primary ciliary dyskinesia 18 ⚠
- p.Ala601Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala666Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala666Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala683Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala692Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala94Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala96Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg172His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg224His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg253Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg277His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg344His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg355Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg403Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg403Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg48Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg560His Multiple submitters primary ciliary dyskinesia 18 ⚠
- p.Arg622His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg668Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg723His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg751Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg751His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg792Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg836Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn295Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp278Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp323Glu Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp370Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp411Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp537Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp576Glu Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp87Tyr Multiple submitters primary ciliary dyskinesia ⚠
- p.Cys138Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Cys722Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Gln147Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Gln214His Multiple submitters primary ciliary dyskinesia ⚠
- p.Gln407His Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu140Asp Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu17Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu23Asp Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu23Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu297Lys Multiple submitters primary ciliary dyskinesia 18 ⚠
- p.Glu412Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu827Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu8Ala Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly127Asp Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly150Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly210Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly271Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly534Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly818Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.His580Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.His604Tyr Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu176Phe Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu208Pro Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu276Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu426Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu479Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu529His Multiple submitters primary ciliary dyskinesia 18 ⚠
- p.Leu690Pro Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro128Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro178Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro340Ala Multiple submitters DNAAF5-related disorder ⚠
- p.Pro448Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro619Leu Multiple submitters primary ciliary dyskinesia 18 ⚠
- p.Pro72Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro801Ala Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser205Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser267Phe Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser516Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser817Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser837Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr395Met Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr533Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr608Met Multiple submitters primary ciliary dyskinesia ⚠
- p.Trp73Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Val146Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Val258Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Val268Met Multiple submitters primary ciliary dyskinesia ⚠
- p.Val298Leu Multiple submitters primary ciliary dyskinesia 18 ⚠
- p.Val416Ala Multiple submitters primary ciliary dyskinesia ⚠
- p.Val416Met Multiple submitters primary ciliary dyskinesia 18 ⚠
- p.Val427Phe Multiple submitters primary ciliary dyskinesia ⚠
- p.Val507Met Multiple submitters primary ciliary dyskinesia ⚠
- p.Val522Met Multiple submitters primary ciliary dyskinesia ⚠
- p.Val605Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Val6Ala Multiple submitters primary ciliary dyskinesia ⚠
- p.Val755Met Multiple submitters primary ciliary dyskinesia ⚠
- p.Val851Met Multiple submitters primary ciliary dyskinesia ⚠
- c.1258-3C>T Single submitter primary ciliary dyskinesia
- c.1471-3C>T Single submitter primary ciliary dyskinesia
- c.1931+2T>C Single submitter primary ciliary dyskinesia
- c.2082+5G>A Single submitter primary ciliary dyskinesia
- c.905+5G>A Single submitter primary ciliary dyskinesia
- c.-1G>A Single submitter
- p.Ala120Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala123Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala12Asp Single submitter primary ciliary dyskinesia ⚠
- p.Ala12Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala137Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala144Glu Single submitter primary ciliary dyskinesia ⚠
- p.Ala152_Val153insLeuValGlnLeuLeuGlyLeuAla Single submitter primary ciliary dyskinesia
- p.Ala152Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala161Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala180Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala190Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala192Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ala196Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala19Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala19Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala226Pro Single submitter primary ciliary dyskinesia ⚠
- p.Ala22Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala233Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala264Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala2Glu Single submitter primary ciliary dyskinesia ⚠
- p.Ala3Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala415Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala424Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala459Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala476Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala503Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala515Gly Single submitter ⚠
- p.Ala515Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala539Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala579Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala63Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala64Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ala64Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala64Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala671Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala672Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ala762Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala7Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala7Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala808Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala94Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg109Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg132Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg169Cys Single submitter congenital anomaly of kidney and urinary tract ⚠
- p.Arg172Leu Single submitter primary ciliary dyskinesia ⚠
- p.Arg263Leu Single submitter primary ciliary dyskinesia ⚠
- p.Arg277Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg279Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg279His Single submitter primary ciliary dyskinesia ⚠
- p.Arg29His Single submitter primary ciliary dyskinesia ⚠
- p.Arg344Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg350Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg350Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg376Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg461Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg48Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg496Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg54Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg569Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg635Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg668Lys Single submitter primary ciliary dyskinesia ⚠
- p.Arg674Leu Single submitter primary ciliary dyskinesia ⚠
- p.Arg723Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg723Pro Single submitter primary ciliary dyskinesia ⚠
- p.Arg75Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg80Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg836His Single submitter primary ciliary dyskinesia ⚠
- p.Arg83Cys Single submitter primary ciliary dyskinesia ⚠
- p.Asn641Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn726Asp Single submitter primary ciliary dyskinesia ⚠
- p.Asn726Thr Single submitter primary ciliary dyskinesia ⚠
- p.Asp112Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp245Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp296Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp367Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp370Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Asp491Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp511Glu Single submitter primary ciliary dyskinesia ⚠
- p.Asp537His Single submitter primary ciliary dyskinesia ⚠
- p.Asp697Asn Single submitter ⚠
- p.Asp697Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Asp713Gly Single submitter primary ciliary dyskinesia ⚠
- p.Asp754Val Single submitter primary ciliary dyskinesia ⚠
- p.Asp758Asn Single submitter primary ciliary dyskinesia 18 ⚠
- p.Asp758Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Asp800Asn Single submitter primary ciliary dyskinesia ⚠
- p.Cys173Arg Single submitter primary ciliary dyskinesia ⚠
- p.Cys173Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Cys512Arg Single submitter primary ciliary dyskinesia ⚠
- p.Cys722Gly Single submitter primary ciliary dyskinesia ⚠
- p.Cys841Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Gln195His Single submitter primary ciliary dyskinesia ⚠
- p.Gln214Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gln418Leu Single submitter primary ciliary dyskinesia ⚠
- p.Gln469Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gln643Pro Single submitter primary ciliary dyskinesia ⚠
- p.Gln788His Single submitter primary ciliary dyskinesia ⚠
- p.Gln849Pro Single submitter primary ciliary dyskinesia ⚠
- p.Gln855His Single submitter ⚠
- p.Glu136Gln Single submitter primary ciliary dyskinesia ⚠
- p.Glu139Gly Single submitter ⚠
- p.Glu185Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu300Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu321Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu391Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu399Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu413Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu58Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu59Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu59Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu651Gln Single submitter primary ciliary dyskinesia ⚠
- p.Glu793Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu793Gln Single submitter primary ciliary dyskinesia ⚠
- p.Glu842Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu8Gln Single submitter primary ciliary dyskinesia ⚠
- p.Gly150Asp Single submitter primary ciliary dyskinesia ⚠
- p.Gly157Ser Single submitter primary ciliary dyskinesia ⚠
- p.Gly232Ser Single submitter primary ciliary dyskinesia ⚠
- p.Gly270Cys Single submitter primary ciliary dyskinesia ⚠
- p.Gly313Val Single submitter primary ciliary dyskinesia ⚠
- p.Gly348Cys Single submitter primary ciliary dyskinesia ⚠
- p.Gly348Ser Single submitter primary ciliary dyskinesia ⚠
- p.Gly452Ser Single submitter primary ciliary dyskinesia ⚠
- p.Gly45Ser Single submitter primary ciliary dyskinesia ⚠
- p.Gly513Ser Single submitter primary ciliary dyskinesia ⚠
- p.Gly551Val Single submitter primary ciliary dyskinesia ⚠
- p.Gly5Glu Single submitter primary ciliary dyskinesia ⚠
- p.Gly5Val Single submitter primary ciliary dyskinesia ⚠
- p.Gly644Ala Single submitter primary ciliary dyskinesia ⚠
- p.Gly733Ser Single submitter primary ciliary dyskinesia ⚠
- p.Gly734fs Single submitter primary ciliary dyskinesia 18
- p.Gly818Trp Single submitter primary ciliary dyskinesia ⚠
- p.Gly91Arg Single submitter primary ciliary dyskinesia ⚠
- p.His200Arg Single submitter primary ciliary dyskinesia ⚠
- p.His249Tyr Single submitter primary ciliary dyskinesia ⚠
- p.His389Arg Single submitter primary ciliary dyskinesia ⚠
- p.His393Tyr Single submitter primary ciliary dyskinesia ⚠
- p.His665Gln Single submitter primary ciliary dyskinesia ⚠
- p.His833Arg Single submitter primary ciliary dyskinesia ⚠
- p.His98Arg Single submitter ⚠
- p.His98Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Ile216Val Single submitter primary ciliary dyskinesia ⚠
- p.Ile484Val Single submitter primary ciliary dyskinesia ⚠
- p.Ile526Leu Single submitter primary ciliary dyskinesia ⚠
- p.Ile563Met Single submitter primary ciliary dyskinesia ⚠
- p.Ile744Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu155Arg Single submitter primary ciliary dyskinesia ⚠
- p.Leu171Met Single submitter primary ciliary dyskinesia
- p.Leu171Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu27Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu357Phe Single submitter primary ciliary dyskinesia ⚠
- p.Leu444Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu468His Single submitter primary ciliary dyskinesia ⚠
- p.Leu499Met Single submitter primary ciliary dyskinesia ⚠
- p.Leu658Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu662Met Single submitter primary ciliary dyskinesia ⚠
- p.Leu710_Ser714delinsPro Single submitter primary ciliary dyskinesia
- p.Leu748Ile Single submitter primary ciliary dyskinesia ⚠
- p.Leu771Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu81Met Single submitter primary ciliary dyskinesia ⚠
- p.Lys445Arg Single submitter primary ciliary dyskinesia ⚠
- p.Lys775Arg Single submitter primary ciliary dyskinesia ⚠
- p.Lys780Asn Single submitter primary ciliary dyskinesia ⚠
- p.Met203Val Single submitter primary ciliary dyskinesia ⚠
- p.Met548Thr Single submitter ⚠
- p.Met703Leu Single submitter ⚠
- p.Met716Ile Single submitter primary ciliary dyskinesia ⚠
- p.Met735Thr Single submitter primary ciliary dyskinesia ⚠
- p.Phe69Leu Single submitter primary ciliary dyskinesia ⚠
- p.Phe820Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro110Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro115Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro130Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro15Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro259Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro335Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro339Arg Single submitter primary ciliary dyskinesia ⚠
- p.Pro339Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro44Gln Single submitter primary ciliary dyskinesia ⚠
- p.Pro44Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro470Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro582Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro596Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro60Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro619Arg Single submitter primary ciliary dyskinesia ⚠
- p.Pro660Thr Single submitter primary ciliary dyskinesia ⚠
- p.Pro72Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro72Thr Single submitter primary ciliary dyskinesia ⚠
- p.Pro746Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro852Leu Single submitter primary ciliary dyskinesia ⚠
- p.Ser174Ala Single submitter primary ciliary dyskinesia ⚠
- p.Ser186Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ser207Pro Single submitter primary ciliary dyskinesia ⚠
- p.Ser217Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Ser248Tyr Single submitter primary ciliary dyskinesia ⚠