DNAAF1 — 752 ClinVar variants
All ClinVar germline DNAAF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 328 flagged for review →
41 Pathogenic · 7 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 54 Conflicting · 58 Benign · 31 Benign/Likely benign · 212 Likely benign · 334 Uncertain significance
Full DNAAF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 328
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
DNAAF1 p.Leu232Val
Likely pathogenic
Multiple submitters
DNAAF1-related disorders
Predictors agree, ClinVar conflicts 20
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DNAAF1 p.Ala694Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Ala695Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Arg164His
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Arg314Gln
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Arg330Gln
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Asp555Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Cys39Arg
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Gln61Glu
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Gly38Asp
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Gly434Arg
Conflicting
Single submitter
primary ciliary dyskinesia 13
-
DNAAF1 p.Gly52Asp
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Pro477Leu
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Pro499Leu
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Pro5Ala
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Pro663Leu
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Pro722Leu
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Ser228Leu
Conflicting
Single submitter
DNAAF1-related disorders
-
DNAAF1 p.Thr531Met
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Val523Ile
Conflicting
Single submitter
primary ciliary dyskinesia 13
-
DNAAF1 p.Val594Met
Conflicting
Single submitter
primary ciliary dyskinesia
Predictors lean, ClinVar uncertain 233
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 233
-
DNAAF1 p.Ala34Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 13
- DNAAF1 p.Ala357Thr Uncertain significance Multiple submitters
-
DNAAF1 p.Ala517Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Ala517Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Ala616Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Ala710Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Ala75Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Arg265Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Arg530Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Arg618Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 13
-
DNAAF1 p.Arg618Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Asn139Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 13
-
DNAAF1 p.Asn255Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 13
-
DNAAF1 p.Asp652Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Cys219Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Cys50Tyr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Cys665Tyr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 13
-
DNAAF1 p.Gln566Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Gln64Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Glu218Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 13
-
DNAAF1 p.Glu345Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 13
-
DNAAF1 p.Glu397Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Glu525Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Glu532Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Glu540Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Glu543Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Glu653Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 13
-
DNAAF1 p.Gly37Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Gly396Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Gly52Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.His2Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Ile104Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Ile213Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Ile606Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Leu207Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Leu579Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Leu650Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Leu672Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Lys374Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Lys40Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Lys95Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Met202Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Met375Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Pro245Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 13
-
DNAAF1 p.Pro366Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Pro391Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Pro447Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Pro503Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Pro511Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Pro513Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Pro643Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Pro707Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Thr415Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Thr544Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Thr613Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Thr622Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Thr664Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Thr664Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Val210Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Val401Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 13
-
DNAAF1 p.Val51Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Ala177Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Ala28Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Ala291Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAAF1 p.Ala325Val Uncertain significance Single submitter
-
DNAAF1 p.Ala359Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Ala385Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Ala608Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Ala617Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Ala670Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Ala705Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAAF1 p.Ala75Gly Uncertain significance Single submitter
-
DNAAF1 p.Arg281Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia 13
- DNAAF1 p.Arg288Thr Uncertain significance Single submitter
-
DNAAF1 p.Arg530Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Arg631Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Arg636Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAAF1 p.Arg636Gly Uncertain significance Single submitter
-
DNAAF1 p.Asn109Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Asn161Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Asn183Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Asn205Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Asn44Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Asp120Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Asp17Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Asp287His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Asp368Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Asp548Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Asp55Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Asp565His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Asp582Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Asp584Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Asp584His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Asp652His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Asp715Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Asp80Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Asp83Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Cys39Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Cys50Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Cys50Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAAF1 p.Gln142Arg Uncertain significance Single submitter
-
DNAAF1 p.Gln20Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Gln214Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Gln462Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Gln462Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Gln566Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Gln61His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Gln61Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Gln64His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Gln706His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Glu25Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Glu26Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Glu310Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Glu332Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia 13
-
DNAAF1 p.Glu339Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Glu353Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Glu360Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Glu384Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Glu402Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Glu48Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Glu4Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Glu510Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Glu519Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Glu564Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Glu564Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Glu692Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Glu699Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Glu7Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Glu7Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Gly11Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Gly23Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Gly254Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Gly298Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Gly32Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Gly361Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Gly409Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Gly414Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Gly492Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Gly560Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Gly66Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Gly71Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Gly72Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Gly72Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Gly85Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.His204Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.His206Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.His31Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.His73Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Ile185Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Ile537Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
Predictors split 74
The independent predictors disagree with each other — read with care.
-
DNAAF1 p.Ala291Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Arg121Cys
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia 13
-
DNAAF1 p.Arg121His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Arg121Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Arg132His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Arg154His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Arg271Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Arg314Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Arg330Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Asn251Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Asp435Asn
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia 13
-
DNAAF1 p.Asp459Glu
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia 13
-
DNAAF1 p.Gln201His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 13
-
DNAAF1 p.Glu145Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Glu333Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 13
-
DNAAF1 p.Glu339Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Glu432Asp
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia 13
-
DNAAF1 p.Glu432Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Glu437Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Gly414Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Gly440Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Ile122Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Leu178Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Leu421Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Leu442His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Lys316Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Phe607Ser
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Pro256Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Pro448Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Pro464Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Pro571Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Thr111Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF1 p.Thr420Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 13
-
DNAAF1 p.Ala149Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Ala418Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Ala498Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Arg248Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Arg248His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Arg248Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Arg312Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Arg87Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Asn182Lys
Conflicting
Single submitter
primary ciliary dyskinesia
- DNAAF1 p.Asp459Ala Uncertain significance Single submitter
-
DNAAF1 p.Asp459Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia 13
-
DNAAF1 p.Glu127Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Glu313Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Glu402Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Glu439Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Glu489Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Gly460Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Ile141Met
Uncertain significance
Single submitter
primary ciliary dyskinesia 13
-
DNAAF1 p.Ile327Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Ile573Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Leu102Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia 13
-
DNAAF1 p.Leu172Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 13
-
DNAAF1 p.Leu474Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Leu96Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Lys101Asn
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Lys90Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Met202Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Pro195Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Pro443Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Pro452Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Pro499Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Pro500Arg
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Pro503Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Pro571Leu
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Thr111Met
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Thr129Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Thr199Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Thr467Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia 13
-
DNAAF1 p.Thr472Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Thr89Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF1 p.Val479Met
Uncertain significance
Single submitter
primary ciliary dyskinesia
All DNAAF1 variants
Pathogenic 41
- p.Arg636Ter Multiple submitters Respiratory ciliopathies including non-CF bronchiectasis
- p.Gln260Ter Multiple submitters primary ciliary dyskinesia
- p.Pro451fs Multiple submitters DNAAF1-related disorders
- p.Tyr264Ter Multiple submitters DNAAF1-related disorders
- c.(?_-181 Single submitter primary ciliary dyskinesia
- p.Ala291fs Single submitter primary ciliary dyskinesia 13
- p.Arg271Ter Single submitter primary ciliary dyskinesia
- p.Arg312fs Single submitter primary ciliary dyskinesia
- p.Arg488Ter Single submitter primary ciliary dyskinesia
- p.Arg644Ter Single submitter primary ciliary dyskinesia 13
- p.Asn605fs Single submitter primary ciliary dyskinesia
- p.Cys155fs Single submitter primary ciliary dyskinesia
- p.Gln20Ter Single submitter primary ciliary dyskinesia
- p.Gln217Ter Single submitter primary ciliary dyskinesia
- p.Gln308Ter Single submitter primary ciliary dyskinesia
- p.Gln341fs Single submitter primary ciliary dyskinesia
- p.Glu148Ter Single submitter primary ciliary dyskinesia
- p.Glu170fs Single submitter primary ciliary dyskinesia
- p.Glu428Ter Single submitter primary ciliary dyskinesia 13
- p.Glu484Ter Single submitter primary ciliary dyskinesia
- p.Glu509Ter Single submitter primary ciliary dyskinesia
- p.Glu540Ter Single submitter primary ciliary dyskinesia
- p.Glu653Ter Single submitter primary ciliary dyskinesia
- p.Gly11fs Single submitter primary ciliary dyskinesia
- p.Gly69fs Single submitter primary ciliary dyskinesia
- p.Ile49fs Single submitter primary ciliary dyskinesia
- p.Leu172fs Single submitter primary ciliary dyskinesia
- p.Leu646fs Single submitter primary ciliary dyskinesia
- p.Leu96fs Single submitter primary ciliary dyskinesia
- p.Lys315Ter Single submitter primary ciliary dyskinesia
- p.Pro106fs Single submitter primary ciliary dyskinesia
- p.Pro447fs Single submitter primary ciliary dyskinesia
- p.Pro478_Val479insTer Single submitter primary ciliary dyskinesia
- p.Pro495fs Single submitter primary ciliary dyskinesia
- p.Pro499fs Single submitter primary ciliary dyskinesia 13
- p.Ser239fs Single submitter primary ciliary dyskinesia
- p.Ser583fs Single submitter primary ciliary dyskinesia
- p.Thr111fs Single submitter primary ciliary dyskinesia
- p.Thr536fs Single submitter primary ciliary dyskinesia
- c.124+1536_353-2102del No assertion criteria primary ciliary dyskinesia 13
- p.Leu175Arg No assertion criteria primary ciliary dyskinesia 13
Pathogenic/Likely pathogenic 7
- c.124+2T>G Multiple submitters DNAAF1-related disorders
- p.Arg338fs Multiple submitters DNAAF1-related disorders
- p.Gln329Ter Multiple submitters DNAAF1-related disorder
- p.Gln64Ter Multiple submitters DNAAF1-related disorders
- p.Gly434fs Multiple submitters primary ciliary dyskinesia 13
- p.Lys626Ter Multiple submitters DNAAF1-related disorders
- c.1528+2T>C No assertion criteria
Likely pathogenic 15
- p.Leu232Val Multiple submitters DNAAF1-related disorders ⚠
- c.1031-2A>G Single submitter primary ciliary dyskinesia 13
- c.124+1G>A Single submitter primary ciliary dyskinesia 13
- c.2065+1G>A Single submitter primary ciliary dyskinesia 13
- c.741+2T>G Single submitter primary ciliary dyskinesia
- p.Arg36Ter Single submitter primary ciliary dyskinesia
- p.Asp110fs Single submitter DNAAF1-related disorders
- p.Glu406fs Single submitter primary ciliary dyskinesia 13
- p.Gly29fs Single submitter primary ciliary dyskinesia 13
- p.Leu131fs Single submitter DNAAF1-related disorders
- p.Leu247Ter Single submitter primary ciliary dyskinesia 13
- p.Leu473fs Single submitter primary ciliary dyskinesia 13
- p.Val429fs Single submitter primary ciliary dyskinesia 13
- c.575-1G>C No assertion criteria DNAAF1-related disorder
- p.Tyr277Ter No assertion criteria primary ciliary dyskinesia
Conflicting classifications of pathogenicity 54
- c.1030+6C>T Single submitter primary ciliary dyskinesia
- c.1031-11T>G Single submitter primary ciliary dyskinesia
- c.1031-5A>T Single submitter primary ciliary dyskinesia
- c.1528+11C>T Single submitter primary ciliary dyskinesia
- c.1528+12G>A Single submitter primary ciliary dyskinesia
- c.1645-19G>A Single submitter primary ciliary dyskinesia
- c.1645-2A>C Single submitter DNAAF1-related disorders
- c.1698+1G>A Single submitter primary ciliary dyskinesia
- c.1699-3T>C Single submitter primary ciliary dyskinesia
- c.2065+5G>A Single submitter primary ciliary dyskinesia 13
- c.353-18G>A Single submitter primary ciliary dyskinesia
- p.Ala694= Single submitter primary ciliary dyskinesia
- p.Ala694Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala695Thr Single submitter primary ciliary dyskinesia ⚠
- p.Arg164His Single submitter primary ciliary dyskinesia ⚠
- p.Arg314Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg330Gln Single submitter primary ciliary dyskinesia ⚠
- p.Asn182Lys Single submitter primary ciliary dyskinesia ⚠
- p.Asn255= Single submitter primary ciliary dyskinesia
- p.Asp433= Single submitter primary ciliary dyskinesia 13
- p.Asp555Val Single submitter primary ciliary dyskinesia ⚠
- p.Cys39Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gln61Glu Single submitter primary ciliary dyskinesia ⚠
- p.Glu402Val Single submitter primary ciliary dyskinesia ⚠
- p.Gly361= Single submitter primary ciliary dyskinesia
- p.Gly38Asp Single submitter primary ciliary dyskinesia ⚠
- p.Gly409= Single submitter primary ciliary dyskinesia
- p.Gly434Arg Single submitter primary ciliary dyskinesia 13 ⚠
- p.Gly52Asp Single submitter primary ciliary dyskinesia ⚠
- p.Ile573Thr Single submitter primary ciliary dyskinesia ⚠
- p.Leu169= Single submitter primary ciliary dyskinesia
- p.Leu475= Single submitter primary ciliary dyskinesia 13
- p.Leu579= Single submitter primary ciliary dyskinesia 13
- p.Lys101Asn Single submitter primary ciliary dyskinesia ⚠
- p.Pro245= Single submitter primary ciliary dyskinesia
- p.Pro391= Single submitter primary ciliary dyskinesia
- p.Pro450= Single submitter primary ciliary dyskinesia
- p.Pro452Thr Single submitter primary ciliary dyskinesia ⚠
- p.Pro477Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro499Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro499Thr Single submitter primary ciliary dyskinesia ⚠
- p.Pro500Arg Single submitter primary ciliary dyskinesia ⚠
- p.Pro502= Single submitter primary ciliary dyskinesia 13
- p.Pro571Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro5Ala Single submitter primary ciliary dyskinesia ⚠
- p.Pro663Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro690= Single submitter primary ciliary dyskinesia
- p.Pro722Leu Single submitter primary ciliary dyskinesia ⚠
- p.Ser228Leu Single submitter DNAAF1-related disorders ⚠
- p.Ser693= Single submitter primary ciliary dyskinesia 13
- p.Thr415= Single submitter primary ciliary dyskinesia
- p.Thr531Met Single submitter primary ciliary dyskinesia ⚠
- p.Val523Ile Single submitter primary ciliary dyskinesia 13 ⚠
- p.Val594Met Single submitter primary ciliary dyskinesia ⚠
Benign 58
- c.1030+62C>G Multiple submitters
- c.1031-109T>G Multiple submitters
- c.1528+81T>A Multiple submitters
- c.1529-140G>A Multiple submitters
- c.1645-131C>G Multiple submitters
- c.1645-243T>G Multiple submitters
- c.1698+114T>C Multiple submitters
- c.1698+167T>C Multiple submitters
- c.1698+7G>T Multiple submitters primary ciliary dyskinesia
- c.1699-185T>A Multiple submitters
- c.1699-41T>C Multiple submitters
- c.261-54G>A Multiple submitters
- c.352+30G>A Multiple submitters
- c.574+27C>G Multiple submitters
- c.742-110A>C Multiple submitters
- c.864-169G>T Multiple submitters
- c.-66T>C Multiple submitters primary ciliary dyskinesia 13
- c.*36C>T Multiple submitters primary ciliary dyskinesia 13
- p.Ala616= Multiple submitters primary ciliary dyskinesia 13
- p.Asp387Glu Multiple submitters primary ciliary dyskinesia 13
- p.Gly38Ser Multiple submitters primary ciliary dyskinesia
- p.Gly703= Multiple submitters primary ciliary dyskinesia
- c.1030+104_1030+115del Single submitter
- c.1030+105_1030+115del Single submitter
- c.1030+112_1030+115del Single submitter
- c.1030+115del Single submitter
- c.1030+115dup Single submitter
- c.1030+260T>A Single submitter
- c.1030+311C>T Single submitter
- c.1031-219T>G Single submitter
- c.1528+223C>T Single submitter
- c.1528+236G>C Single submitter
- c.1528+293_1528+294dup Single submitter
- c.1528+295C>G Single submitter
- c.1528+295C>T Single submitter
- c.1529-175G>A Single submitter
- c.1529-188T>G Single submitter
- c.1698+120del Single submitter
- c.1698+282A>T Single submitter
- c.2065+14dup Single submitter primary ciliary dyskinesia
- c.2065+267T>G Single submitter
- c.260+219C>G Single submitter
- c.261-216dup Single submitter
- c.352+290_352+291dup Single submitter
- c.352+291del Single submitter
- c.352+291dup Single submitter
- c.353-292G>T Single submitter
- c.353-306T>C Single submitter
- c.574+172G>A Single submitter
- c.741+187A>C Single submitter
- c.742-139A>G Single submitter
- c.742-291T>G Single submitter
- c.863+159T>C Single submitter
- c.863+184del Single submitter
- c.863+239T>A Single submitter
- c.863+307C>T Single submitter
- c.864-194T>C Single submitter
- c.864-290A>T Single submitter
Benign/Likely benign 31
- c.1030+11_1030+22del Multiple submitters primary ciliary dyskinesia
- c.1030+14C>T Multiple submitters primary ciliary dyskinesia 13
- c.1529-17TTG[2] Multiple submitters primary ciliary dyskinesia
- c.1644+14T>C Multiple submitters primary ciliary dyskinesia
- c.352+17G>C Multiple submitters primary ciliary dyskinesia
- c.864-17_864-14del Multiple submitters primary ciliary dyskinesia
- c.*18T>C Multiple submitters primary ciliary dyskinesia 13
- p.Ala359= Multiple submitters primary ciliary dyskinesia 13
- p.Arg121Cys Multiple submitters primary ciliary dyskinesia 13 ⚠
- p.Arg330= Multiple submitters primary ciliary dyskinesia
- p.Asp246Asn Multiple submitters primary ciliary dyskinesia 13
- p.Asp435Asn Multiple submitters primary ciliary dyskinesia 13 ⚠
- p.Asp459Glu Multiple submitters primary ciliary dyskinesia 13 ⚠
- p.Asp584Asn Multiple submitters primary ciliary dyskinesia 13
- p.Gln260His Multiple submitters primary ciliary dyskinesia
- p.Gln307Glu Multiple submitters primary ciliary dyskinesia 13
- p.Glu432Asp Multiple submitters primary ciliary dyskinesia 13 ⚠
- p.Gly703Arg Multiple submitters primary ciliary dyskinesia 13
- p.His229Tyr Multiple submitters primary ciliary dyskinesia
- p.His76= Multiple submitters primary ciliary dyskinesia 13
- p.Leu539Pro Multiple submitters primary ciliary dyskinesia
- p.Leu598= Multiple submitters primary ciliary dyskinesia 13
- p.Leu633Ser Multiple submitters primary ciliary dyskinesia 13
- p.Leu659Pro Multiple submitters primary ciliary dyskinesia
- p.Leu659Val Multiple submitters primary ciliary dyskinesia 13
- p.Lys393Arg Multiple submitters primary ciliary dyskinesia 13
- p.Phe607Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro502Leu Multiple submitters primary ciliary dyskinesia
- p.Pro712Ala Multiple submitters primary ciliary dyskinesia
- p.Ser675Thr Multiple submitters primary ciliary dyskinesia
- p.Thr590Met Multiple submitters primary ciliary dyskinesia
Likely benign 212
- c.1030+15G>A Multiple submitters primary ciliary dyskinesia
- c.1645-9C>A Multiple submitters primary ciliary dyskinesia
- c.2065+16C>T Multiple submitters primary ciliary dyskinesia
- c.863+13A>G Multiple submitters primary ciliary dyskinesia
- c.863+17C>G Multiple submitters primary ciliary dyskinesia
- p.Ala291= Multiple submitters primary ciliary dyskinesia
- p.Arg538= Multiple submitters primary ciliary dyskinesia
- p.Asn139= Multiple submitters
- p.Asn230= Multiple submitters primary ciliary dyskinesia
- p.Asp387= Multiple submitters primary ciliary dyskinesia
- p.Asp459= Multiple submitters primary ciliary dyskinesia
- p.Asp612= Multiple submitters primary ciliary dyskinesia
- p.Glu439= Multiple submitters primary ciliary dyskinesia
- p.Gly11= Multiple submitters primary ciliary dyskinesia
- p.Gly38= Multiple submitters primary ciliary dyskinesia
- p.Gly38Ala Multiple submitters primary ciliary dyskinesia
- p.Ile144= Multiple submitters primary ciliary dyskinesia
- p.Leu112= Multiple submitters primary ciliary dyskinesia
- p.Leu200= Multiple submitters primary ciliary dyskinesia
- p.Leu377= Multiple submitters primary ciliary dyskinesia
- p.Leu389= Multiple submitters primary ciliary dyskinesia
- p.Leu603= Multiple submitters primary ciliary dyskinesia
- p.Leu633= Multiple submitters primary ciliary dyskinesia
- p.Leu650= Multiple submitters primary ciliary dyskinesia
- p.Phe74= Multiple submitters primary ciliary dyskinesia
- p.Pro235= Multiple submitters primary ciliary dyskinesia
- p.Pro256= Multiple submitters primary ciliary dyskinesia
- p.Pro356= Multiple submitters primary ciliary dyskinesia
- p.Pro394= Multiple submitters primary ciliary dyskinesia
- p.Pro399= Multiple submitters primary ciliary dyskinesia
- p.Pro452= Multiple submitters primary ciliary dyskinesia
- p.Pro477= Multiple submitters primary ciliary dyskinesia
- p.Pro571= Multiple submitters primary ciliary dyskinesia
- p.Pro722= Multiple submitters primary ciliary dyskinesia
- p.Ser228= Multiple submitters primary ciliary dyskinesia
- p.Ser57= Multiple submitters primary ciliary dyskinesia
- p.Ser577= Multiple submitters primary ciliary dyskinesia
- p.Ser580= Multiple submitters primary ciliary dyskinesia
- p.Ser680= Multiple submitters primary ciliary dyskinesia
- p.Thr105= Multiple submitters primary ciliary dyskinesia
- p.Thr529= Multiple submitters primary ciliary dyskinesia
- p.Thr531= Multiple submitters primary ciliary dyskinesia
- p.Thr602= Multiple submitters primary ciliary dyskinesia
- p.Val453= Multiple submitters primary ciliary dyskinesia
- c.1030+10C>T Single submitter primary ciliary dyskinesia
- c.1030+113_1030+115del Single submitter
- c.1030+14C>G Single submitter primary ciliary dyskinesia
- c.1030+19A>C Single submitter primary ciliary dyskinesia
- c.1030+64C>G Single submitter
- c.1030+7G>A Single submitter primary ciliary dyskinesia
- c.1030+8C>T Single submitter primary ciliary dyskinesia
- c.1031-18T>C Single submitter primary ciliary dyskinesia
- c.124+11C>T Single submitter primary ciliary dyskinesia
- c.124+12C>T Single submitter primary ciliary dyskinesia
- c.124+16C>T Single submitter primary ciliary dyskinesia
- c.124+20G>C Single submitter primary ciliary dyskinesia
- c.125-10T>C Single submitter primary ciliary dyskinesia
- c.1529-11T>C Single submitter primary ciliary dyskinesia
- c.1529-17T>A Single submitter primary ciliary dyskinesia
- c.1529-18C>G Single submitter primary ciliary dyskinesia
- c.1644+17dup Single submitter primary ciliary dyskinesia
- c.1645-19G>C Single submitter primary ciliary dyskinesia
- c.1645-20C>T Single submitter primary ciliary dyskinesia
- c.1645-308A>T Single submitter
- c.1645-9C>T Single submitter primary ciliary dyskinesia
- c.1698+8T>A Single submitter primary ciliary dyskinesia
- c.1698+9C>T Single submitter primary ciliary dyskinesia
- c.1699-13C>T Single submitter primary ciliary dyskinesia
- c.1699-19C>A Single submitter primary ciliary dyskinesia
- c.1699-5A>C Single submitter primary ciliary dyskinesia
- c.1699-9del Single submitter primary ciliary dyskinesia
- c.2065+17G>A Single submitter primary ciliary dyskinesia
- c.2065+20A>G Single submitter primary ciliary dyskinesia
- c.2065+7G>C Single submitter
- c.2065+8C>T Single submitter primary ciliary dyskinesia
- c.2065+9G>A Single submitter primary ciliary dyskinesia
- c.2065+9G>C Single submitter
- c.2065+9G>T Single submitter primary ciliary dyskinesia
- c.260+7G>A Single submitter primary ciliary dyskinesia
- c.261-11C>T Single submitter primary ciliary dyskinesia
- c.261-11del Single submitter primary ciliary dyskinesia
- c.261-14T>C Single submitter primary ciliary dyskinesia
- c.261-20A>G Single submitter primary ciliary dyskinesia
- c.352+13G>C Single submitter primary ciliary dyskinesia
- c.352+15G>C Single submitter primary ciliary dyskinesia
- c.352+9C>A Single submitter primary ciliary dyskinesia
- c.353-19C>T Single submitter primary ciliary dyskinesia
- c.353-5G>A Single submitter primary ciliary dyskinesia
- c.574+11C>T Single submitter primary ciliary dyskinesia
- c.574+332G>C Single submitter
- c.575-10T>A Single submitter primary ciliary dyskinesia
- c.575-119G>A Single submitter
- c.575-11T>C Single submitter primary ciliary dyskinesia
- c.575-15G>A Single submitter
- c.575-18G>T Single submitter primary ciliary dyskinesia
- c.575-20C>T Single submitter primary ciliary dyskinesia
- c.575-46C>A Single submitter
- c.575-75G>A Single submitter
- c.741+4AAAAAC[4] Single submitter primary ciliary dyskinesia
- c.742-12G>A Single submitter primary ciliary dyskinesia
- c.742-677T>C Single submitter
- c.742-6T>C Single submitter primary ciliary dyskinesia
- c.742-7C>G Single submitter primary ciliary dyskinesia
- c.863+307C>G Single submitter
- c.863+8G>A Single submitter primary ciliary dyskinesia
- c.864-12T>C Single submitter primary ciliary dyskinesia
- c.864-20T>G Single submitter primary ciliary dyskinesia
- c.-19C>T Single submitter
- c.*67T>C Single submitter primary ciliary dyskinesia 13
- p.Ala107= Single submitter primary ciliary dyskinesia
- p.Ala13= Single submitter primary ciliary dyskinesia
- p.Ala149= Single submitter primary ciliary dyskinesia
- p.Ala28= Single submitter primary ciliary dyskinesia
- p.Ala300= Single submitter primary ciliary dyskinesia
- p.Ala34= Single submitter primary ciliary dyskinesia
- p.Ala507= Single submitter primary ciliary dyskinesia
- p.Ala669= Single submitter primary ciliary dyskinesia
- p.Ala685= Single submitter primary ciliary dyskinesia
- p.Ala718= Single submitter primary ciliary dyskinesia
- p.Ala9= Single submitter primary ciliary dyskinesia
- p.Arg221= Single submitter primary ciliary dyskinesia
- p.Arg314= Single submitter primary ciliary dyskinesia
- p.Arg336Lys Single submitter primary ciliary dyskinesia
- p.Arg36Pro Single submitter primary ciliary dyskinesia
- p.Arg678= Single submitter
- p.Asn109= Single submitter primary ciliary dyskinesia
- p.Asn146= Single submitter primary ciliary dyskinesia
- p.Asn182= Single submitter primary ciliary dyskinesia
- p.Asp485= Single submitter primary ciliary dyskinesia
- p.Asp555= Single submitter primary ciliary dyskinesia
- p.Asp557= Single submitter primary ciliary dyskinesia
- p.Asp601= Single submitter primary ciliary dyskinesia
- p.Asp652= Single submitter primary ciliary dyskinesia
- p.Asp654= Single submitter primary ciliary dyskinesia
- p.Gln666= Single submitter primary ciliary dyskinesia
- p.Gln94= Single submitter primary ciliary dyskinesia
- p.Glu218= Single submitter primary ciliary dyskinesia
- p.Glu26= Single submitter primary ciliary dyskinesia
- p.Glu313= Single submitter primary ciliary dyskinesia
- p.Glu332= Single submitter primary ciliary dyskinesia
- p.Glu406= Single submitter primary ciliary dyskinesia
- p.Glu428= Single submitter primary ciliary dyskinesia
- p.Glu458= Single submitter primary ciliary dyskinesia
- p.Glu484= Single submitter primary ciliary dyskinesia
- p.Glu491= Single submitter primary ciliary dyskinesia
- p.Glu519= Single submitter primary ciliary dyskinesia
- p.Glu628Ala Single submitter primary ciliary dyskinesia
- p.Gly32= Single submitter primary ciliary dyskinesia
- p.Gly344= Single submitter primary ciliary dyskinesia
- p.Gly35= Single submitter primary ciliary dyskinesia
- p.Gly367= Single submitter primary ciliary dyskinesia
- p.Gly434= Single submitter primary ciliary dyskinesia
- p.Gly440= Single submitter primary ciliary dyskinesia
- p.Gly486= Single submitter primary ciliary dyskinesia
- p.Gly505= Single submitter primary ciliary dyskinesia
- p.Gly85= Single submitter primary ciliary dyskinesia
- p.Ile104= Single submitter primary ciliary dyskinesia
- p.Ile317= Single submitter primary ciliary dyskinesia
- p.Ile537= Single submitter primary ciliary dyskinesia
- p.Ile573= Single submitter primary ciliary dyskinesia
- p.Ile624= Single submitter primary ciliary dyskinesia
- p.Leu131= Single submitter primary ciliary dyskinesia
- p.Leu158= Single submitter primary ciliary dyskinesia
- p.Leu163= Single submitter
- p.Leu238= Single submitter primary ciliary dyskinesia
- p.Leu250= Single submitter primary ciliary dyskinesia
- p.Leu421= Single submitter primary ciliary dyskinesia
- p.Leu504= Single submitter primary ciliary dyskinesia
- p.Leu526= Single submitter primary ciliary dyskinesia
- p.Leu592= Single submitter primary ciliary dyskinesia
- p.Leu93= Single submitter primary ciliary dyskinesia
- p.Lys174= Single submitter primary ciliary dyskinesia
- p.Lys231= Single submitter primary ciliary dyskinesia
- p.Lys362= Single submitter primary ciliary dyskinesia
- p.Lys40= Single submitter primary ciliary dyskinesia
- p.Lys47Asn Single submitter primary ciliary dyskinesia
- p.Lys542= Single submitter primary ciliary dyskinesia
- p.Phe119= Single submitter
- p.Phe682Leu Single submitter primary ciliary dyskinesia
- p.Phe719Leu Single submitter primary ciliary dyskinesia
- p.Pro22= Single submitter primary ciliary dyskinesia
- p.Pro366= Single submitter primary ciliary dyskinesia
- p.Pro503= Single submitter primary ciliary dyskinesia
- p.Pro511= Single submitter primary ciliary dyskinesia
- p.Pro513= Single submitter primary ciliary dyskinesia
- p.Pro585= Single submitter primary ciliary dyskinesia
- p.Pro663= Single submitter
- p.Pro671= Single submitter primary ciliary dyskinesia
- p.Ser320= Single submitter primary ciliary dyskinesia
- p.Ser424= Single submitter primary ciliary dyskinesia
- p.Ser425= Single submitter primary ciliary dyskinesia
- p.Ser651= Single submitter primary ciliary dyskinesia
- p.Ter726= Single submitter primary ciliary dyskinesia
- p.Thr111= Single submitter primary ciliary dyskinesia
- p.Thr187= Single submitter primary ciliary dyskinesia
- p.Thr199= Single submitter primary ciliary dyskinesia
- p.Thr318= Single submitter primary ciliary dyskinesia
- p.Thr347= Single submitter primary ciliary dyskinesia
- p.Thr467= Single submitter primary ciliary dyskinesia
- p.Thr472= Single submitter primary ciliary dyskinesia
- p.Thr493= Single submitter primary ciliary dyskinesia
- p.Thr512Ala Single submitter
- p.Thr590= Single submitter primary ciliary dyskinesia
- p.Thr600Ala Single submitter primary ciliary dyskinesia
- p.Thr664= Single submitter primary ciliary dyskinesia
- p.Thr673= Single submitter primary ciliary dyskinesia
- p.Thr691= Single submitter
- p.Thr700= Single submitter primary ciliary dyskinesia
- p.Tyr113= Single submitter primary ciliary dyskinesia
- p.Val196= Single submitter primary ciliary dyskinesia
- p.Val51= Single submitter primary ciliary dyskinesia
- p.Val702= Single submitter primary ciliary dyskinesia
Uncertain significance 334
Showing the top 300 by review status; the full set is in the sitemap.
- c.124+6G>A Multiple submitters primary ciliary dyskinesia
- c.-128G>C Multiple submitters primary ciliary dyskinesia 13
- p.Ala291Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala34Thr Multiple submitters primary ciliary dyskinesia 13 ⚠
- p.Ala357Thr Multiple submitters ⚠
- p.Ala517Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala517Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala616Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala710Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala75Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg121His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg121Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg132Cys Multiple submitters primary ciliary dyskinesia
- p.Arg132His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg154His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg248Asn Multiple submitters primary ciliary dyskinesia
- p.Arg265Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg271Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg314Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg330Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg530Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg618Gln Multiple submitters primary ciliary dyskinesia 13 ⚠
- p.Arg618Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn139Ser Multiple submitters primary ciliary dyskinesia 13 ⚠
- p.Asn251Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn255Lys Multiple submitters primary ciliary dyskinesia 13 ⚠
- p.Asp652Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Cys219Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Cys50Tyr Multiple submitters primary ciliary dyskinesia ⚠
- p.Cys665Tyr Multiple submitters primary ciliary dyskinesia 13 ⚠
- p.Gln201His Multiple submitters primary ciliary dyskinesia 13 ⚠
- p.Gln566Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Gln64Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu145Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu218Gln Multiple submitters primary ciliary dyskinesia 13 ⚠
- p.Glu333Lys Multiple submitters primary ciliary dyskinesia 13 ⚠
- p.Glu339Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu345Gln Multiple submitters primary ciliary dyskinesia 13 ⚠
- p.Glu397Asp Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu432Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu437Asp Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu525Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu532Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu540Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu543Asp Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu653Lys Multiple submitters primary ciliary dyskinesia 13 ⚠
- p.Gly37Glu Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly396Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly414Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly440Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly52Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.His2Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile104Met Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile122Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile213Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile606Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu178Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu207Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu421Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu442His Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu579Phe Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu650Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu672Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Lys316Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Lys374Met Multiple submitters primary ciliary dyskinesia ⚠
- p.Lys40Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Lys95Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Met202Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Met375Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro245Ser Multiple submitters primary ciliary dyskinesia 13 ⚠
- p.Pro256Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro366Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro391Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro447Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro448Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro464Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro503Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro511Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro513Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro571Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro643Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro688dup Multiple submitters primary ciliary dyskinesia
- p.Pro707Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr111Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr415Ala Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr420Ser Multiple submitters primary ciliary dyskinesia 13 ⚠
- p.Thr544Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr613Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr622Pro Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr664Pro Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr664Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Val210Met Multiple submitters primary ciliary dyskinesia ⚠
- p.Val401Ala Multiple submitters primary ciliary dyskinesia 13 ⚠
- p.Val51Met Multiple submitters primary ciliary dyskinesia ⚠
- c.1031-2A>C Single submitter primary ciliary dyskinesia
- c.125-5T>C Single submitter primary ciliary dyskinesia 13
- c.1306_1307ins156 Single submitter primary ciliary dyskinesia
- c.1528+13G>A Single submitter primary ciliary dyskinesia 13
- c.1528+4A>G Single submitter primary ciliary dyskinesia 13
- c.1644+6T>C Single submitter primary ciliary dyskinesia
- c.1645-5T>C Single submitter primary ciliary dyskinesia
- c.1698+1G>C Single submitter primary ciliary dyskinesia
- c.2065+1del Single submitter primary ciliary dyskinesia
- c.260+3A>G Single submitter primary ciliary dyskinesia
- c.741+3_741+8del Single submitter
- c.863+41G>A Single submitter
- c.863+6A>C Single submitter primary ciliary dyskinesia
- c.864-4A>G Single submitter primary ciliary dyskinesia 13
- c.*16T>C Single submitter primary ciliary dyskinesia 13
- p.Ala149Pro Single submitter primary ciliary dyskinesia ⚠
- p.Ala177Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala28Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala291Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ala325Val Single submitter ⚠
- p.Ala359Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala385Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala418Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala498Asp Single submitter primary ciliary dyskinesia ⚠
- p.Ala608Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala617Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala670Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala684fs Single submitter primary ciliary dyskinesia 13
- p.Ala705Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ala75Gly Single submitter ⚠
- p.Arg154Cys Single submitter primary ciliary dyskinesia
- p.Arg248Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg248His Single submitter primary ciliary dyskinesia ⚠
- p.Arg248Ser Single submitter primary ciliary dyskinesia ⚠
- p.Arg281Ile Single submitter primary ciliary dyskinesia 13 ⚠
- p.Arg288Thr Single submitter ⚠
- p.Arg312Thr Single submitter primary ciliary dyskinesia ⚠
- p.Arg530Lys Single submitter primary ciliary dyskinesia ⚠
- p.Arg631Thr Single submitter primary ciliary dyskinesia ⚠
- p.Arg636Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg636Gly Single submitter ⚠
- p.Arg87Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn109Lys Single submitter primary ciliary dyskinesia ⚠
- p.Asn161Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn183Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn205Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn44Asp Single submitter primary ciliary dyskinesia ⚠
- p.Asp120Val Single submitter primary ciliary dyskinesia ⚠
- p.Asp17Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Asp287His Single submitter primary ciliary dyskinesia ⚠
- p.Asp368Ala Single submitter primary ciliary dyskinesia ⚠
- p.Asp435_Arg488delinsAsnGly Single submitter primary ciliary dyskinesia
- p.Asp459Ala Single submitter ⚠
- p.Asp459Asn Single submitter primary ciliary dyskinesia 13 ⚠
- p.Asp548Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp55Glu Single submitter primary ciliary dyskinesia ⚠
- p.Asp565His Single submitter primary ciliary dyskinesia ⚠
- p.Asp582Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp584Glu Single submitter primary ciliary dyskinesia ⚠
- p.Asp584His Single submitter primary ciliary dyskinesia ⚠
- p.Asp652His Single submitter primary ciliary dyskinesia ⚠
- p.Asp715Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp715fs Single submitter primary ciliary dyskinesia 13
- p.Asp80Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp83Val Single submitter primary ciliary dyskinesia ⚠
- p.Cys39Gly Single submitter primary ciliary dyskinesia ⚠
- p.Cys50Arg Single submitter primary ciliary dyskinesia ⚠
- p.Cys50Gly Single submitter primary ciliary dyskinesia ⚠
- p.Cys546= Single submitter primary ciliary dyskinesia
- p.Gln142Arg Single submitter ⚠
- p.Gln20Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gln214Glu Single submitter primary ciliary dyskinesia ⚠
- p.Gln462_Asp487del Single submitter primary ciliary dyskinesia
- p.Gln462Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gln462Glu Single submitter primary ciliary dyskinesia ⚠
- p.Gln566Glu Single submitter primary ciliary dyskinesia ⚠
- p.Gln61His Single submitter primary ciliary dyskinesia ⚠
- p.Gln61Pro Single submitter primary ciliary dyskinesia ⚠
- p.Gln64His Single submitter primary ciliary dyskinesia ⚠
- p.Gln706His Single submitter primary ciliary dyskinesia ⚠
- p.Glu127Gln Single submitter primary ciliary dyskinesia ⚠
- p.Glu25Gln Single submitter primary ciliary dyskinesia ⚠
- p.Glu26Gln Single submitter primary ciliary dyskinesia ⚠
- p.Glu310Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu313Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu332Ala Single submitter primary ciliary dyskinesia 13 ⚠
- p.Glu339Gln Single submitter primary ciliary dyskinesia ⚠
- p.Glu353Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu360Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu384Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu402Gly Single submitter primary ciliary dyskinesia ⚠
- p.Glu439Gln Single submitter primary ciliary dyskinesia ⚠
- p.Glu489Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu48Gly Single submitter primary ciliary dyskinesia ⚠
- p.Glu4Gln Single submitter primary ciliary dyskinesia ⚠
- p.Glu510Gly Single submitter primary ciliary dyskinesia ⚠
- p.Glu519Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu564Ala Single submitter primary ciliary dyskinesia ⚠
- p.Glu564Val Single submitter primary ciliary dyskinesia ⚠
- p.Glu692Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu699Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu7Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu7Gln Single submitter primary ciliary dyskinesia ⚠
- p.Gly11Ala Single submitter primary ciliary dyskinesia ⚠
- p.Gly23Asp Single submitter primary ciliary dyskinesia ⚠
- p.Gly254Ala Single submitter primary ciliary dyskinesia ⚠
- p.Gly298Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly32Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly361Val Single submitter primary ciliary dyskinesia ⚠
- p.Gly409Cys Single submitter primary ciliary dyskinesia ⚠
- p.Gly414Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly436_Asp461dup Single submitter primary ciliary dyskinesia
- p.Gly460Val Single submitter primary ciliary dyskinesia ⚠
- p.Gly492Glu Single submitter primary ciliary dyskinesia ⚠
- p.Gly560Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly66Cys Single submitter primary ciliary dyskinesia ⚠
- p.Gly71Asp Single submitter primary ciliary dyskinesia ⚠
- p.Gly72Ser Single submitter primary ciliary dyskinesia ⚠
- p.Gly72Val Single submitter primary ciliary dyskinesia ⚠
- p.Gly85Val Single submitter primary ciliary dyskinesia ⚠
- p.His204Tyr Single submitter primary ciliary dyskinesia ⚠
- p.His206Gln Single submitter primary ciliary dyskinesia ⚠
- p.His31Gln Single submitter primary ciliary dyskinesia ⚠
- p.His73Leu Single submitter primary ciliary dyskinesia ⚠
- p.Ile141Met Single submitter primary ciliary dyskinesia 13 ⚠
- p.Ile144Val Single submitter primary ciliary dyskinesia
- p.Ile185Leu Single submitter primary ciliary dyskinesia ⚠
- p.Ile185Met Single submitter primary ciliary dyskinesia
- p.Ile327Phe Single submitter primary ciliary dyskinesia ⚠
- p.Ile537Leu Single submitter primary ciliary dyskinesia ⚠
- p.Ile537Phe Single submitter primary ciliary dyskinesia ⚠
- p.Ile537Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ile547Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ile576= Single submitter primary ciliary dyskinesia 13
- p.Ile635Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu102Phe Single submitter primary ciliary dyskinesia 13 ⚠
- p.Leu114Phe Single submitter ⚠
- p.Leu131Arg Single submitter primary ciliary dyskinesia ⚠
- p.Leu16Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu172Val Single submitter primary ciliary dyskinesia 13 ⚠
- p.Leu178Pro Single submitter primary ciliary dyskinesia ⚠
- p.Leu180Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu191Pro Single submitter primary ciliary dyskinesia ⚠
- p.Leu207Arg Single submitter primary ciliary dyskinesia ⚠
- p.Leu220Met Single submitter primary ciliary dyskinesia ⚠
- p.Leu227Phe Single submitter primary ciliary dyskinesia
- p.Leu238Met Single submitter primary ciliary dyskinesia ⚠
- p.Leu250Pro Single submitter primary ciliary dyskinesia ⚠
- p.Leu252Met Single submitter primary ciliary dyskinesia ⚠
- p.Leu421Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu422Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu474Ile Single submitter primary ciliary dyskinesia ⚠
- p.Leu526Ile Single submitter primary ciliary dyskinesia ⚠
- p.Leu539Met Single submitter primary ciliary dyskinesia ⚠
- p.Leu595Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu598Arg Single submitter primary ciliary dyskinesia ⚠
- p.Leu603Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu633Phe Single submitter primary ciliary dyskinesia ⚠
- p.Leu646Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu660Arg Single submitter primary ciliary dyskinesia ⚠
- p.Leu683Pro Single submitter primary ciliary dyskinesia ⚠
- p.Leu711Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu716Ile Single submitter primary ciliary dyskinesia ⚠
- p.Leu96Pro Single submitter primary ciliary dyskinesia ⚠
- p.Lys117Gln Single submitter primary ciliary dyskinesia ⚠
- p.Lys273Arg Single submitter primary ciliary dyskinesia ⚠
- p.Lys456Glu Single submitter ⚠
- p.Lys611Glu Single submitter primary ciliary dyskinesia ⚠
- p.Lys611Thr Single submitter primary ciliary dyskinesia ⚠
- p.Lys90Asn Single submitter primary ciliary dyskinesia ⚠
- p.Met202Leu Single submitter primary ciliary dyskinesia ⚠
- p.Met202Thr Single submitter primary ciliary dyskinesia ⚠
- p.Met244Val Single submitter primary ciliary dyskinesia ⚠
- p.Met568Thr Single submitter primary ciliary dyskinesia ⚠
- p.Phe157del Single submitter primary ciliary dyskinesia
- p.Pro106Ala Single submitter primary ciliary dyskinesia
- p.Pro171Thr Single submitter primary ciliary dyskinesia ⚠
- p.Pro195Arg Single submitter primary ciliary dyskinesia ⚠
- p.Pro22Leu Single submitter primary ciliary dyskinesia 13 ⚠
- p.Pro256Ala Single submitter primary ciliary dyskinesia ⚠
- p.Pro365Ala Single submitter primary ciliary dyskinesia ⚠
- p.Pro391Arg Single submitter primary ciliary dyskinesia ⚠
- p.Pro399Leu Single submitter primary ciliary dyskinesia 13 ⚠
- p.Pro3Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro443Gln Single submitter primary ciliary dyskinesia ⚠
- p.Pro452_Pro503dup Single submitter primary ciliary dyskinesia
- p.Pro503Arg Single submitter primary ciliary dyskinesia ⚠
- p.Pro503Thr Single submitter primary ciliary dyskinesia ⚠
- p.Pro663Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro671Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro688Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro690Ala Single submitter primary ciliary dyskinesia 13 ⚠
- p.Pro690Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro77Arg Single submitter primary ciliary dyskinesia ⚠
- p.Ser358Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ser424Leu Single submitter primary ciliary dyskinesia ⚠
- p.Ser53Phe Single submitter primary ciliary dyskinesia ⚠
- p.Ser562Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ser583Asn Single submitter primary ciliary dyskinesia ⚠
- p.Ser583Gly Single submitter primary ciliary dyskinesia 13 ⚠
- p.Ser60Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ser610Ala Single submitter primary ciliary dyskinesia ⚠
- p.Ser656Phe Single submitter primary ciliary dyskinesia ⚠
- p.Ser65Asn Single submitter primary ciliary dyskinesia ⚠
- p.Ser675Asn Single submitter primary ciliary dyskinesia ⚠
- p.Ser680Asn Single submitter primary ciliary dyskinesia ⚠