NME8 — 487 ClinVar variants
All ClinVar germline NME8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 206 flagged for review →
11 Conflicting · 52 Benign · 22 Benign/Likely benign · 133 Likely benign · 269 Uncertain significance
Full NME8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 206
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 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
NME8 p.Asp139Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
NME8 p.Ile204Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
NME8 p.Pro134Leu
Conflicting
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Pro147Leu
Conflicting
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Pro248Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
NME8 p.Val473Ile
Conflicting
Single submitter
primary ciliary dyskinesia
Predictors lean, ClinVar uncertain 162
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 162
-
NME8 p.Ala122Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
NME8 p.Ala440Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 6
-
NME8 p.Ala530Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
NME8 p.Arg127Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
NME8 p.Arg203Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 6
-
NME8 p.Arg534Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
NME8 p.Arg553Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
NME8 p.Asn199Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
NME8 p.Asn563Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
NME8 p.Asn579Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 6
-
NME8 p.Asn57Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
NME8 p.Asp115Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 6
-
NME8 p.Asp137Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
NME8 p.Glu316Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 6
-
NME8 p.Glu364Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
NME8 p.Glu467Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 6
-
NME8 p.Glu58Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 6
-
NME8 p.Glu96Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 6
-
NME8 p.Gly28Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 6
-
NME8 p.Ile157Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
NME8 p.Ile160Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 6
-
NME8 p.Leu389Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 6
-
NME8 p.Lys507Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
NME8 p.Lys562Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 6
-
NME8 p.Met423Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
NME8 p.Met519Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 6
-
NME8 p.Phe487Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
NME8 p.Pro162Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 6
-
NME8 p.Pro236Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 6
-
NME8 p.Pro248His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
NME8 p.Pro427Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 6
-
NME8 p.Tyr223Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
NME8 p.Tyr277His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 6
-
NME8 p.Val258Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 6
-
NME8 p.Val406Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
NME8 p.Val515Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 6
-
NME8 p.Val577Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
NME8 p.Val8Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
NME8 p.Ala103Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Ala103Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Ala126Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Ala205Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Ala419Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Ala422Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Ala422Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Ala461Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Ala530Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Ala568Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Ala574Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Arg330Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Arg336Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Arg336Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Arg442Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Arg6Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Asn107Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Asn26Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Asn295Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Asn392Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Asn527Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Asn57Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Asp115Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Asp137Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Asp206Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Asp245His
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Asp272Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Asp306Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Asp332Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Asp33His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Asp33Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Asp340Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Asp435Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Asp504Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
- NME8 p.Asp70Asn Uncertain significance Single submitter
-
NME8 p.Asp80Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Cys148Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Cys208Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Cys287Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Cys39Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Cys39Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Cys42Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Cys82Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Gln255Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Gln445Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Gln451Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Glu211Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Glu250Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Glu250Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Glu411Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Glu542Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Glu55Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Glu576Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Glu60Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Gly100Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Gly265Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Gly28Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Gly28Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Gly381Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Gly393Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Gly477Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Gly516Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
- NME8 p.Gly516Val Uncertain significance Single submitter
-
NME8 p.His282Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.His328Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.His566Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Ile111Met
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Ile159Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Ile160Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Ile224Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Ile32Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Ile469Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Ile552Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Leu286Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Leu29Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Leu322Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Leu450Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Leu48Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Leu513Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Leu546Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Lys109Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Lys169Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Lys189Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Lys189Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Lys232Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Lys344Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Lys545Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Lys97Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Met125Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Met313Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Met45Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Met512Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Met519Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Met521Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Pro128Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Pro242Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Pro256His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Pro517Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Pro541Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Pro77Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Pro84Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Pro84Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Ser143Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Ser156Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Ser18Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Ser231Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Ser548Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Ser548Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Ser89Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Thr178Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Thr190Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Thr190Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
Predictors split 38
The independent predictors disagree with each other — read with care.
-
NME8 p.Ala69Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
NME8 p.Arg390Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
NME8 p.Asp550Tyr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
NME8 p.Glu366Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 6
-
NME8 p.Gly381Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 6
-
NME8 p.Ile177Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 6
-
NME8 p.Ile375Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
NME8 p.Ile469Leu
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia
-
NME8 p.Phe447Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 6
-
NME8 p.Pro305Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
NME8 p.Ser354Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
NME8 p.Thr30Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 6
-
NME8 p.Tyr201Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
NME8 p.Ala101Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Ala409Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Ala476Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Arg336Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Arg534Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Asn102Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
- NME8 p.Asn54Lys Uncertain significance Single submitter
-
NME8 p.Cys418Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Cys82Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Gln196Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Gly123Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
- NME8 p.Ile338Phe Uncertain significance Single submitter
-
NME8 p.Ile444Met
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Met45Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Met536Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Phe307Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Pro541Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Pro549Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Ser380Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Ser3Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Ser416Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Ser452Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
NME8 p.Thr318Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Thr318Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 6
-
NME8 p.Val520Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
All NME8 variants
Conflicting classifications of pathogenicity 11
- c.198+1G>A Single submitter primary ciliary dyskinesia 6
- c.271-11T>A Single submitter primary ciliary dyskinesia 6
- p.Asp139Val Single submitter primary ciliary dyskinesia ⚠
- p.Glu364Ter Single submitter primary ciliary dyskinesia 6
- p.Glu366Ter Single submitter primary ciliary dyskinesia 6
- p.Ile204Val Single submitter primary ciliary dyskinesia ⚠
- p.Pro104Leu Single submitter primary ciliary dyskinesia 6
- p.Pro134Leu Single submitter primary ciliary dyskinesia 6 ⚠
- p.Pro147Leu Single submitter primary ciliary dyskinesia 6 ⚠
- p.Pro248Thr Single submitter primary ciliary dyskinesia ⚠
- p.Val473Ile Single submitter primary ciliary dyskinesia ⚠
Benign 52
- c.1247+25A>G Multiple submitters primary ciliary dyskinesia 6
- c.1247+34C>T Multiple submitters
- c.1544+22G>A Multiple submitters primary ciliary dyskinesia 6
- c.271-14C>T Multiple submitters primary ciliary dyskinesia 6
- c.271-49G>A Multiple submitters
- c.455-46C>T Multiple submitters
- c.818+27T>C Multiple submitters
- c.91+44G>A Multiple submitters
- c.1140-8del Single submitter primary ciliary dyskinesia 6
- c.1248-100T>G Single submitter
- c.1248-177G>A Single submitter
- c.1248-297C>T Single submitter
- c.1400-85C>G Single submitter
- c.1544+108A>C Single submitter
- c.1544+190A>C Single submitter
- c.1544+253T>C Single submitter
- c.1545-11G>A Single submitter primary ciliary dyskinesia 6
- c.1545-183C>T Single submitter
- c.1545-186C>T Single submitter
- c.1545-88T>C Single submitter
- c.198+244A>G Single submitter
- c.198+252A>G Single submitter
- c.198+270T>C Single submitter
- c.199-175G>A Single submitter
- c.199-277A>C Single submitter
- c.270+236C>T Single submitter
- c.270+249T>C Single submitter
- c.270+251A>C Single submitter
- c.270+262G>A Single submitter
- c.271-140C>T Single submitter
- c.271-245T>C Single submitter
- c.387+286G>A Single submitter
- c.388-178T>G Single submitter
- c.388-265A>T Single submitter
- c.455-104T>C Single submitter
- c.455-5dup Single submitter primary ciliary dyskinesia 6
- c.455-97A>T Single submitter
- c.528+244C>A Single submitter
- c.528+76G>A Single submitter
- c.621+201G>A Single submitter
- c.622-257T>G Single submitter
- c.622-286A>G Single submitter
- c.819-123A>T Single submitter
- c.819-150del Single submitter
- c.91+15del Single submitter primary ciliary dyskinesia 6
- c.995-316_995-315insA Single submitter
- c.995-316C>A Single submitter
- c.995-317_995-316insA Single submitter
- c.995-56G>A Single submitter
- c.-7-16_-7-13del Single submitter
- c.-7-76A>G Single submitter
- c.*15+324T>C Single submitter
Benign/Likely benign 22
- c.1140-10T>G Multiple submitters primary ciliary dyskinesia 6
- c.271-27C>T Multiple submitters primary ciliary dyskinesia
- c.271-3T>C Multiple submitters primary ciliary dyskinesia
- c.528+11T>C Multiple submitters primary ciliary dyskinesia 6
- c.994+19A>G Multiple submitters primary ciliary dyskinesia 6
- c.-3T>C Multiple submitters primary ciliary dyskinesia
- p.Arg280= Multiple submitters primary ciliary dyskinesia 6
- p.Arg336His Multiple submitters primary ciliary dyskinesia
- p.Arg43Lys Multiple submitters primary ciliary dyskinesia 6
- p.Asn249= Multiple submitters primary ciliary dyskinesia
- p.Asp59= Multiple submitters primary ciliary dyskinesia
- p.Cys208Arg Multiple submitters primary ciliary dyskinesia
- p.Cys42= Multiple submitters primary ciliary dyskinesia 6
- p.Gln359= Multiple submitters primary ciliary dyskinesia
- p.Glu247Lys Multiple submitters primary ciliary dyskinesia
- p.Ile338Thr Multiple submitters primary ciliary dyskinesia
- p.Ile469Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile493= Multiple submitters primary ciliary dyskinesia
- p.Ile493Thr Multiple submitters primary ciliary dyskinesia
- p.Leu535= Multiple submitters primary ciliary dyskinesia
- p.Thr439= Multiple submitters primary ciliary dyskinesia 6
- p.Val73= Multiple submitters primary ciliary dyskinesia
Likely benign 133
- c.33+15T>G Multiple submitters primary ciliary dyskinesia 6
- c.388-3T>C Multiple submitters primary ciliary dyskinesia
- c.529-8A>C Multiple submitters primary ciliary dyskinesia 6
- p.Ala544Thr Multiple submitters primary ciliary dyskinesia 6
- p.Arg323= Multiple submitters primary ciliary dyskinesia 6
- p.Arg534Ter Multiple submitters primary ciliary dyskinesia
- p.Asn57= Multiple submitters primary ciliary dyskinesia
- p.Asn570= Multiple submitters primary ciliary dyskinesia 6
- p.Asp391= Multiple submitters primary ciliary dyskinesia 6
- p.Gln152Ter Multiple submitters primary ciliary dyskinesia
- p.Gln17= Multiple submitters primary ciliary dyskinesia 6
- p.Gln76Lys Multiple submitters primary ciliary dyskinesia 6
- p.Glu211= Multiple submitters primary ciliary dyskinesia 6
- p.Glu241= Multiple submitters primary ciliary dyskinesia 6
- p.Gly28= Multiple submitters primary ciliary dyskinesia
- p.Ile114= Multiple submitters primary ciliary dyskinesia 6
- p.Ile95= Multiple submitters primary ciliary dyskinesia 6
- p.Leu19= Multiple submitters primary ciliary dyskinesia 6
- p.Leu48= Multiple submitters primary ciliary dyskinesia
- p.Leu581= Multiple submitters primary ciliary dyskinesia
- p.Phe86= Multiple submitters primary ciliary dyskinesia 6
- p.Phe88= Multiple submitters primary ciliary dyskinesia 6
- p.Pro305= Multiple submitters primary ciliary dyskinesia
- p.Ser354= Multiple submitters primary ciliary dyskinesia 6
- p.Ser434= Multiple submitters primary ciliary dyskinesia 6
- p.Thr12= Multiple submitters primary ciliary dyskinesia 6
- p.Thr240= Multiple submitters primary ciliary dyskinesia 6
- p.Thr246= Multiple submitters primary ciliary dyskinesia 6
- p.Thr489= Multiple submitters primary ciliary dyskinesia 6
- p.Val258= Multiple submitters primary ciliary dyskinesia 6
- c.1139+14T>A Single submitter primary ciliary dyskinesia 6
- c.1140-12C>G Single submitter primary ciliary dyskinesia 6
- c.1140-9T>G Single submitter primary ciliary dyskinesia 6
- c.1247+10A>T Single submitter primary ciliary dyskinesia 6
- c.1247+15A>G Single submitter primary ciliary dyskinesia 6
- c.1247+16T>C Single submitter
- c.1248-18C>T Single submitter primary ciliary dyskinesia 6
- c.1545-12C>T Single submitter primary ciliary dyskinesia 6
- c.1545-15C>T Single submitter
- c.199-4C>G Single submitter primary ciliary dyskinesia 6
- c.270+10T>C Single submitter primary ciliary dyskinesia 6
- c.270+9A>G Single submitter
- c.271-15T>G Single submitter primary ciliary dyskinesia 6
- c.271-19G>C Single submitter primary ciliary dyskinesia 6
- c.271-4A>G Single submitter primary ciliary dyskinesia 6
- c.271-5T>C Single submitter primary ciliary dyskinesia 6
- c.271-6T>C Single submitter
- c.271-9C>T Single submitter primary ciliary dyskinesia 6
- c.33+8T>G Single submitter primary ciliary dyskinesia 6
- c.34-10C>T Single submitter primary ciliary dyskinesia 6
- c.34-15C>T Single submitter primary ciliary dyskinesia 6
- c.34-8C>T Single submitter primary ciliary dyskinesia 6
- c.387+16A>C Single submitter primary ciliary dyskinesia 6
- c.387+7C>A Single submitter primary ciliary dyskinesia 6
- c.388-16C>T Single submitter primary ciliary dyskinesia 6
- c.454+14_454+15insGAA Single submitter primary ciliary dyskinesia 6
- c.454+15T>C Single submitter primary ciliary dyskinesia 6
- c.454+16T>C Single submitter primary ciliary dyskinesia 6
- c.454+17C>T Single submitter primary ciliary dyskinesia 6
- c.528+19C>T Single submitter primary ciliary dyskinesia 6
- c.528+46_528+48del Single submitter
- c.529-15A>G Single submitter primary ciliary dyskinesia 6
- c.529-19C>T Single submitter primary ciliary dyskinesia 6
- c.621+11T>G Single submitter primary ciliary dyskinesia 6
- c.621+48G>T Single submitter
- c.621+8A>T Single submitter primary ciliary dyskinesia 6
- c.622-18del Single submitter primary ciliary dyskinesia 6
- c.622-9A>C Single submitter primary ciliary dyskinesia 6
- c.818+10A>C Single submitter
- c.819-20T>C Single submitter primary ciliary dyskinesia 6
- c.91+11T>A Single submitter primary ciliary dyskinesia 6
- c.91+15C>T Single submitter primary ciliary dyskinesia 6
- c.91+16G>A Single submitter primary ciliary dyskinesia 6
- c.91+16G>C Single submitter primary ciliary dyskinesia 6
- c.92-19A>G Single submitter primary ciliary dyskinesia 6
- c.92-7C>A Single submitter primary ciliary dyskinesia 6
- c.92-9A>G Single submitter primary ciliary dyskinesia 6
- c.994+9T>C Single submitter primary ciliary dyskinesia 6
- c.995-13T>C Single submitter primary ciliary dyskinesia 6
- c.995-4T>G Single submitter primary ciliary dyskinesia 6
- c.-5G>T Single submitter
- p.Ala294= Single submitter primary ciliary dyskinesia 6
- p.Ala440= Single submitter
- p.Ala461Val Single submitter primary ciliary dyskinesia
- p.Arg553= Single submitter primary ciliary dyskinesia 6
- p.Asn563= Single submitter primary ciliary dyskinesia
- p.Asn579= Single submitter primary ciliary dyskinesia 6
- p.Asp245= Single submitter primary ciliary dyskinesia 6
- p.Asp80= Single submitter primary ciliary dyskinesia 6
- p.Gln46= Single submitter primary ciliary dyskinesia
- p.Glu153= Single submitter primary ciliary dyskinesia 6
- p.Glu253= Single submitter primary ciliary dyskinesia 6
- p.Glu276= Single submitter primary ciliary dyskinesia 6
- p.Glu441= Single submitter primary ciliary dyskinesia 6
- p.Glu491= Single submitter primary ciliary dyskinesia 6
- p.Glu587= Single submitter primary ciliary dyskinesia 6
- p.Gly433= Single submitter primary ciliary dyskinesia 6
- p.Gly537= Single submitter primary ciliary dyskinesia 6
- p.His328= Single submitter primary ciliary dyskinesia
- p.Ile183= Single submitter primary ciliary dyskinesia 6
- p.Ile289Val Single submitter primary ciliary dyskinesia
- p.Leu105= Single submitter primary ciliary dyskinesia 6
- p.Leu171= Single submitter primary ciliary dyskinesia 6
- p.Leu192Phe Single submitter primary ciliary dyskinesia
- p.Leu335= Single submitter primary ciliary dyskinesia 6
- p.Leu353= Single submitter primary ciliary dyskinesia 6
- p.Leu431= Single submitter primary ciliary dyskinesia 6
- p.Leu480= Single submitter primary ciliary dyskinesia 6
- p.Leu52= Single submitter
- p.Leu561= Single submitter primary ciliary dyskinesia 6
- p.Leu75Ser Single submitter primary ciliary dyskinesia 6
- p.Lys314= Single submitter
- p.Phe210= Single submitter primary ciliary dyskinesia 6
- p.Phe505= Single submitter primary ciliary dyskinesia
- p.Pro104= Single submitter primary ciliary dyskinesia 6
- p.Pro131= Single submitter primary ciliary dyskinesia 6
- p.Pro162= Single submitter primary ciliary dyskinesia 6
- p.Pro242= Single submitter primary ciliary dyskinesia 6
- p.Pro256= Single submitter primary ciliary dyskinesia 6
- p.Ser436= Single submitter
- p.Ser548= Single submitter primary ciliary dyskinesia 6
- p.Ser89= Single submitter primary ciliary dyskinesia 6
- p.Thr218= Single submitter primary ciliary dyskinesia 6
- p.Tyr201= Single submitter primary ciliary dyskinesia 6
- p.Tyr396= Single submitter primary ciliary dyskinesia 6
- p.Val110= Single submitter primary ciliary dyskinesia 6
- p.Val110Ile Single submitter primary ciliary dyskinesia
- p.Val198= Single submitter
- p.Val262= Single submitter primary ciliary dyskinesia 6
- p.Val8= Single submitter primary ciliary dyskinesia 6
- c.*2G>A No assertion criteria NME8-related disorder
- p.Lys363= No assertion criteria NME8-related disorder
- p.Ser215= No assertion criteria NME8-related disorder
Uncertain significance 269
- c.1139+3A>G Multiple submitters primary ciliary dyskinesia 6
- c.454+1G>A Multiple submitters primary ciliary dyskinesia
- p.Ala122Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala440Asp Multiple submitters primary ciliary dyskinesia 6 ⚠
- p.Ala530Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala69Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg127Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg203Gln Multiple submitters primary ciliary dyskinesia 6 ⚠
- p.Arg203Ter Multiple submitters primary ciliary dyskinesia 6
- p.Arg390Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg534Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg553Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg553Ter Multiple submitters primary ciliary dyskinesia 6
- p.Asn199Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn563Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn579Asp Multiple submitters primary ciliary dyskinesia 6 ⚠
- p.Asn57Asp Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp115Asn Multiple submitters primary ciliary dyskinesia 6 ⚠
- p.Asp137Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp550Tyr Multiple submitters primary ciliary dyskinesia ⚠
- p.Gln430Arg Multiple submitters primary ciliary dyskinesia
- p.Glu316Gln Multiple submitters primary ciliary dyskinesia 6 ⚠
- p.Glu364Asp Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu366Gly Multiple submitters primary ciliary dyskinesia 6 ⚠
- p.Glu467fs Multiple submitters primary ciliary dyskinesia 6
- p.Glu467Gln Multiple submitters primary ciliary dyskinesia 6 ⚠
- p.Glu58Lys Multiple submitters primary ciliary dyskinesia 6 ⚠
- p.Glu96Lys Multiple submitters primary ciliary dyskinesia 6 ⚠
- p.Gly265Ter Multiple submitters primary ciliary dyskinesia 6
- p.Gly28Cys Multiple submitters primary ciliary dyskinesia 6 ⚠
- p.Gly381Asp Multiple submitters primary ciliary dyskinesia 6 ⚠
- p.Ile157Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile160Thr Multiple submitters primary ciliary dyskinesia 6 ⚠
- p.Ile177Phe Multiple submitters primary ciliary dyskinesia 6 ⚠
- p.Ile375Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu389Phe Multiple submitters primary ciliary dyskinesia 6 ⚠
- p.Leu426Ter Multiple submitters primary ciliary dyskinesia
- p.Lys507Glu Multiple submitters primary ciliary dyskinesia ⚠
- p.Lys562Glu Multiple submitters primary ciliary dyskinesia 6 ⚠
- p.Met423Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Met519Thr Multiple submitters primary ciliary dyskinesia 6 ⚠
- p.Phe447Leu Multiple submitters primary ciliary dyskinesia 6 ⚠
- p.Phe487Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Phe556Ile Multiple submitters primary ciliary dyskinesia 6
- p.Pro162Leu Multiple submitters primary ciliary dyskinesia 6 ⚠
- p.Pro236Ser Multiple submitters primary ciliary dyskinesia 6 ⚠
- p.Pro248His Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro305Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro427Leu Multiple submitters primary ciliary dyskinesia 6 ⚠
- p.Ser354Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr30Ala Multiple submitters primary ciliary dyskinesia 6 ⚠
- p.Tyr201Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Tyr223Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Tyr277His Multiple submitters primary ciliary dyskinesia 6 ⚠
- p.Val258Phe Multiple submitters primary ciliary dyskinesia 6 ⚠
- p.Val406Phe Multiple submitters primary ciliary dyskinesia ⚠
- p.Val515Met Multiple submitters primary ciliary dyskinesia 6 ⚠
- p.Val577Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Val8Asp Multiple submitters primary ciliary dyskinesia ⚠
- c.1140-5_1140-4insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTTGTTTTCTTTTCTA Single submitter primary ciliary dyskinesia 6
- c.1400-12T>A Single submitter primary ciliary dyskinesia 6
- c.1400-1G>C Single submitter primary ciliary dyskinesia 6
- c.1400-9T>G Single submitter primary ciliary dyskinesia 6
- c.1400-?_*15+?dup Single submitter primary ciliary dyskinesia 6
- c.198+1G>C Single submitter primary ciliary dyskinesia 6
- c.199-2A>G Single submitter primary ciliary dyskinesia 6
- c.270+5G>A Single submitter primary ciliary dyskinesia 6
- c.33+4G>A Single submitter primary ciliary dyskinesia 6
- c.455-2A>G Single submitter primary ciliary dyskinesia 6
- c.525_528+1del Single submitter primary ciliary dyskinesia 6
- c.528+4A>G Single submitter primary ciliary dyskinesia 6
- c.528+6T>C Single submitter primary ciliary dyskinesia 6
- c.529-2A>G Single submitter primary ciliary dyskinesia 6
- c.529-3A>G Single submitter primary ciliary dyskinesia 6
- c.622-1G>A Single submitter primary ciliary dyskinesia 6
- c.818+4T>A Single submitter primary ciliary dyskinesia
- c.819-3C>G Single submitter primary ciliary dyskinesia 6
- c.994+6G>C Single submitter primary ciliary dyskinesia 6
- p.Ala101fs Single submitter
- p.Ala101Gly Single submitter primary ciliary dyskinesia
- p.Ala101Thr Single submitter primary ciliary dyskinesia 6 ⚠
- p.Ala103Glu Single submitter primary ciliary dyskinesia ⚠
- p.Ala103Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala126Val Single submitter primary ciliary dyskinesia 6 ⚠
- p.Ala205Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala2Thr Single submitter primary ciliary dyskinesia
- p.Ala409Val Single submitter primary ciliary dyskinesia 6 ⚠
- p.Ala419Thr Single submitter primary ciliary dyskinesia 6 ⚠
- p.Ala422Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ala422Val Single submitter primary ciliary dyskinesia 6 ⚠
- p.Ala461Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala476Pro Single submitter primary ciliary dyskinesia 6 ⚠
- p.Ala530Pro Single submitter primary ciliary dyskinesia 6 ⚠
- p.Ala568Pro Single submitter primary ciliary dyskinesia 6 ⚠
- p.Ala574Thr Single submitter primary ciliary dyskinesia 6 ⚠
- p.Arg127Ter Single submitter
- p.Arg251Ter Single submitter primary ciliary dyskinesia 6
- p.Arg323Ter Single submitter primary ciliary dyskinesia 6
- p.Arg330Lys Single submitter primary ciliary dyskinesia 6 ⚠
- p.Arg336Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg336Gly Single submitter primary ciliary dyskinesia 6 ⚠
- p.Arg336Pro Single submitter primary ciliary dyskinesia 6 ⚠
- p.Arg442Gly Single submitter primary ciliary dyskinesia 6 ⚠
- p.Arg534Gly Single submitter primary ciliary dyskinesia 6 ⚠
- p.Arg6Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg6Ter Single submitter primary ciliary dyskinesia 6
- p.Asn102Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Asn107Asp Single submitter primary ciliary dyskinesia 6 ⚠
- p.Asn26Ser Single submitter primary ciliary dyskinesia 6 ⚠
- p.Asn295Ser Single submitter primary ciliary dyskinesia 6 ⚠
- p.Asn392Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn527Asp Single submitter primary ciliary dyskinesia 6 ⚠
- p.Asn54_Glu55insTer Single submitter primary ciliary dyskinesia 6
- p.Asn54Lys Single submitter ⚠
- p.Asn57Lys Single submitter primary ciliary dyskinesia 6 ⚠
- p.Asp115Gly Single submitter primary ciliary dyskinesia ⚠
- p.Asp137Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp206Ala Single submitter primary ciliary dyskinesia ⚠
- p.Asp245His Single submitter primary ciliary dyskinesia 6 ⚠
- p.Asp272Gly Single submitter primary ciliary dyskinesia 6 ⚠
- p.Asp288Gly Single submitter primary ciliary dyskinesia 6
- p.Asp306Asn Single submitter primary ciliary dyskinesia 6 ⚠
- p.Asp332Gly Single submitter primary ciliary dyskinesia 6 ⚠
- p.Asp33His Single submitter primary ciliary dyskinesia ⚠
- p.Asp33Tyr Single submitter primary ciliary dyskinesia 6 ⚠
- p.Asp340fs Single submitter primary ciliary dyskinesia 6
- p.Asp340Val Single submitter primary ciliary dyskinesia ⚠
- p.Asp435Asn Single submitter primary ciliary dyskinesia 6 ⚠
- p.Asp504Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp70Asn Single submitter ⚠
- p.Asp80Gly Single submitter primary ciliary dyskinesia 6 ⚠
- p.Cys148Arg Single submitter primary ciliary dyskinesia 6 ⚠
- p.Cys208His Single submitter primary ciliary dyskinesia 6
- p.Cys208Leu Single submitter primary ciliary dyskinesia 6
- p.Cys208Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Cys287Arg Single submitter primary ciliary dyskinesia ⚠
- p.Cys39Arg Single submitter primary ciliary dyskinesia 6 ⚠
- p.Cys39Phe Single submitter primary ciliary dyskinesia ⚠
- p.Cys418Trp Single submitter primary ciliary dyskinesia 6 ⚠
- p.Cys42Phe Single submitter primary ciliary dyskinesia 6 ⚠
- p.Cys82Arg Single submitter primary ciliary dyskinesia ⚠
- p.Cys82Ser Single submitter primary ciliary dyskinesia 6 ⚠
- p.Gln196Pro Single submitter primary ciliary dyskinesia ⚠
- p.Gln255Lys Single submitter primary ciliary dyskinesia ⚠
- p.Gln430fs Single submitter
- p.Gln445Arg Single submitter primary ciliary dyskinesia 6 ⚠
- p.Gln451Pro Single submitter primary ciliary dyskinesia 6 ⚠
- p.Gln9Ter Single submitter primary ciliary dyskinesia 6
- p.Glu117Ter Single submitter
- p.Glu124= Single submitter primary ciliary dyskinesia
- p.Glu153Ter Single submitter primary ciliary dyskinesia 6
- p.Glu211Lys Single submitter primary ciliary dyskinesia 6 ⚠
- p.Glu212fs Single submitter primary ciliary dyskinesia
- p.Glu250Gly Single submitter primary ciliary dyskinesia 6 ⚠
- p.Glu250Lys Single submitter primary ciliary dyskinesia 6 ⚠
- p.Glu411Lys Single submitter primary ciliary dyskinesia 6 ⚠
- p.Glu443Gln Single submitter primary ciliary dyskinesia 6
- p.Glu542fs Single submitter
- p.Glu542Gln Single submitter primary ciliary dyskinesia 6 ⚠
- p.Glu55Asp Single submitter primary ciliary dyskinesia 6 ⚠
- p.Glu576Ala Single submitter primary ciliary dyskinesia 6 ⚠
- p.Glu60Lys Single submitter primary ciliary dyskinesia ⚠
- p.Gly100Ala Single submitter primary ciliary dyskinesia ⚠
- p.Gly123Cys Single submitter primary ciliary dyskinesia 6 ⚠
- p.Gly265Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly28Asp Single submitter primary ciliary dyskinesia 6 ⚠
- p.Gly28Ser Single submitter primary ciliary dyskinesia 6 ⚠
- p.Gly381Ser Single submitter primary ciliary dyskinesia 6 ⚠
- p.Gly393Ser Single submitter primary ciliary dyskinesia 6 ⚠
- p.Gly455fs Single submitter primary ciliary dyskinesia
- p.Gly477Glu Single submitter primary ciliary dyskinesia 6 ⚠
- p.Gly516Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly516Asp Single submitter primary ciliary dyskinesia 6
- p.Gly516Val Single submitter ⚠
- p.His282Arg Single submitter primary ciliary dyskinesia 6 ⚠
- p.His328Arg Single submitter primary ciliary dyskinesia 6 ⚠
- p.His566Arg Single submitter primary ciliary dyskinesia ⚠
- p.Ile111Met Single submitter primary ciliary dyskinesia 6 ⚠
- p.Ile159Leu Single submitter primary ciliary dyskinesia 6 ⚠
- p.Ile160Val Single submitter primary ciliary dyskinesia ⚠
- p.Ile224Phe Single submitter primary ciliary dyskinesia ⚠
- p.Ile32Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ile338Phe Single submitter ⚠
- p.Ile444Met Single submitter primary ciliary dyskinesia 6 ⚠
- p.Ile469Val Single submitter primary ciliary dyskinesia 6 ⚠
- p.Ile552Thr Single submitter primary ciliary dyskinesia ⚠
- p.Leu154Ter Single submitter primary ciliary dyskinesia 6
- p.Leu286Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu29Ile Single submitter primary ciliary dyskinesia 6 ⚠
- p.Leu322Pro Single submitter primary ciliary dyskinesia 6 ⚠
- p.Leu450Phe Single submitter primary ciliary dyskinesia 6 ⚠
- p.Leu48Phe Single submitter primary ciliary dyskinesia ⚠
- p.Leu510= Single submitter primary ciliary dyskinesia 6
- p.Leu513Phe Single submitter primary ciliary dyskinesia ⚠
- p.Leu546Ter Single submitter primary ciliary dyskinesia 6
- p.Leu546Val Single submitter primary ciliary dyskinesia 6 ⚠
- p.Leu561Ser Single submitter primary ciliary dyskinesia 6
- p.Leu87_Phe88del Single submitter primary ciliary dyskinesia 6
- p.Lys109Asn Single submitter primary ciliary dyskinesia 6 ⚠
- p.Lys169Glu Single submitter primary ciliary dyskinesia 6 ⚠
- p.Lys189Asn Single submitter primary ciliary dyskinesia 6 ⚠
- p.Lys189Glu Single submitter primary ciliary dyskinesia 6 ⚠
- p.Lys232Arg Single submitter primary ciliary dyskinesia ⚠
- p.Lys308Ter Single submitter primary ciliary dyskinesia 6
- p.Lys344Arg Single submitter primary ciliary dyskinesia 6 ⚠
- p.Lys51Ter Single submitter primary ciliary dyskinesia 6
- p.Lys545Arg Single submitter primary ciliary dyskinesia 6 ⚠
- p.Lys560= Single submitter primary ciliary dyskinesia 6
- p.Lys97Arg Single submitter primary ciliary dyskinesia ⚠
- p.Met125Thr Single submitter primary ciliary dyskinesia ⚠
- p.Met1Ile Single submitter primary ciliary dyskinesia 6
- p.Met217Thr Single submitter primary ciliary dyskinesia 6
- p.Met313Lys Single submitter primary ciliary dyskinesia 6 ⚠
- p.Met45Thr Single submitter primary ciliary dyskinesia 6 ⚠
- p.Met45Val Single submitter primary ciliary dyskinesia 6 ⚠
- p.Met512Ile Single submitter primary ciliary dyskinesia 6 ⚠
- p.Met519Val Single submitter primary ciliary dyskinesia 6 ⚠
- p.Met521Ile Single submitter primary ciliary dyskinesia 6 ⚠
- p.Met536Ile Single submitter primary ciliary dyskinesia 6 ⚠
- p.Phe307Leu Single submitter primary ciliary dyskinesia 6 ⚠
- p.Pro128Ser Single submitter primary ciliary dyskinesia 6 ⚠
- p.Pro147fs Single submitter primary ciliary dyskinesia 6
- p.Pro242Leu Single submitter primary ciliary dyskinesia 6 ⚠
- p.Pro256His Single submitter primary ciliary dyskinesia ⚠
- p.Pro403Arg Single submitter primary ciliary dyskinesia
- p.Pro517Ala Single submitter primary ciliary dyskinesia 6 ⚠
- p.Pro541Gln Single submitter primary ciliary dyskinesia ⚠
- p.Pro541Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro541Thr Single submitter primary ciliary dyskinesia 6
- p.Pro549Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro77Thr Single submitter primary ciliary dyskinesia 6 ⚠
- p.Pro84Ala Single submitter primary ciliary dyskinesia 6 ⚠
- p.Pro84Leu Single submitter primary ciliary dyskinesia 6 ⚠
- p.Ser143Thr Single submitter primary ciliary dyskinesia 6 ⚠
- p.Ser156Arg Single submitter primary ciliary dyskinesia 6 ⚠
- p.Ser18Asn Single submitter primary ciliary dyskinesia 6 ⚠
- p.Ser231Asn Single submitter primary ciliary dyskinesia 6 ⚠
- p.Ser380Ile Single submitter primary ciliary dyskinesia 6 ⚠
- p.Ser3Arg Single submitter primary ciliary dyskinesia 6 ⚠
- p.Ser416Gly Single submitter primary ciliary dyskinesia 6 ⚠
- p.Ser452Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ser548Phe Single submitter primary ciliary dyskinesia 6 ⚠
- p.Ser548Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Ser89Thr Single submitter primary ciliary dyskinesia 6 ⚠
- p.Thr178Asn Single submitter primary ciliary dyskinesia 6 ⚠
- p.Thr190Arg Single submitter primary ciliary dyskinesia 6 ⚠
- p.Thr190Ile Single submitter primary ciliary dyskinesia 6 ⚠
- p.Thr218Ser Single submitter primary ciliary dyskinesia 6 ⚠
- p.Thr240fs Single submitter primary ciliary dyskinesia 6
- p.Thr318Ala Single submitter primary ciliary dyskinesia 6 ⚠
- p.Thr318Arg Single submitter primary ciliary dyskinesia 6 ⚠
- p.Thr379= Single submitter primary ciliary dyskinesia 6
- p.Thr453Ile Single submitter primary ciliary dyskinesia
- p.Thr501Ile Single submitter primary ciliary dyskinesia ⚠
- p.Trp20Cys Single submitter primary ciliary dyskinesia 6 ⚠
- p.Trp397Gly Single submitter primary ciliary dyskinesia ⚠
- p.Tyr365Ter Single submitter primary ciliary dyskinesia 6
- p.Tyr432Cys Single submitter primary ciliary dyskinesia 6 ⚠
- p.Tyr432His Single submitter primary ciliary dyskinesia 6 ⚠
- p.Val227Ile Single submitter primary ciliary dyskinesia 6 ⚠
- p.Val387Phe Single submitter
- p.Val406Ile Single submitter primary ciliary dyskinesia ⚠
- p.Val473Phe Single submitter primary ciliary dyskinesia ⚠
- p.Val483Leu Single submitter primary ciliary dyskinesia ⚠
- p.Val500Ala Single submitter primary ciliary dyskinesia 6 ⚠
- p.Val515= Single submitter primary ciliary dyskinesia 6
- p.Val520Phe Single submitter primary ciliary dyskinesia ⚠
- p.Val66= Single submitter primary ciliary dyskinesia 6
- p.Val85Ile Single submitter primary ciliary dyskinesia ⚠