ODAD1 — 590 ClinVar variants
All ClinVar germline ODAD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 261 flagged for review →
11 Pathogenic · 7 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 19 Conflicting · 26 Benign · 32 Benign/Likely benign · 217 Likely benign · 267 Uncertain significance
Full ODAD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 261
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.
-
ODAD1 p.Ala285Thr
Pathogenic/Likely pathogenic
Multiple submitters
CCDC114 & ODAD1-related disorders
Predictors agree, ClinVar conflicts 14
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ODAD1 p.Ala236Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Ala247Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Arg400Cys
Conflicting
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Asp475Asn
Conflicting
Single submitter
primary ciliary dyskinesia 20
-
ODAD1 p.Gly669Arg
Conflicting
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.His373Arg
Conflicting
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Leu408Met
Conflicting
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Pro494Leu
Conflicting
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Ser209Asn
Conflicting
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Ser392Leu
Conflicting
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Ser438Asn
Conflicting
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Thr126Met
Conflicting
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Val555Met
Conflicting
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Val686Ile
Conflicting
Single submitter
primary ciliary dyskinesia
Predictors lean, ClinVar uncertain 213
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 213
-
ODAD1 p.Ala105Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Ala174Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Ala307Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Ala399Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Ala413Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Ala547Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Ala630Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Ala76Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 20
-
ODAD1 p.Arg161Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Arg172Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Arg172Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Arg177Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Arg189His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Arg195Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Arg195His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Arg233Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Arg271Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Arg271Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Arg281His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Arg386His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Arg396Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Arg396Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Arg396His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Arg442Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Arg591Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Arg67Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Arg683Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Arg706Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Arg85Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Arg89Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Arg89Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Asn334Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Asn339Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 20
-
ODAD1 p.Asn92Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Asp186Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Asp550Tyr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Gln122His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Glu331Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Glu360Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Glu398Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Glu518Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Gly626Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Gly665Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Gly677Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.His596Tyr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.His608Tyr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 20
-
ODAD1 p.His615Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Ile212Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Leu142Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Leu191Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Leu374Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Leu383Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Leu446Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 20
-
ODAD1 p.Leu527Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Lys389Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Lys410Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Lys491Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Met315Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Met515Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Met93Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Phe599Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Pro138Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Pro273Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Pro489Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Pro494Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Pro697Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Ser209Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Ser438Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Ser484Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Ser644Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Ser645Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Ser676Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Thr614Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Tyr646Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Val221Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Val636Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Val653Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Ala101Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Ala105Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Ala220Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Ala236Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Ala241Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Ala307Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Ala365Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Ala367Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Ala394Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Ala534Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Ala534Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Ala536Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Ala543Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Ala545Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Ala547Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Ala558Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Ala643Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Arg100Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Arg136Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Arg172Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Arg235His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Arg271Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
- ODAD1 p.Arg333His Uncertain significance Single submitter
-
ODAD1 p.Arg396Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Arg400His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Arg43Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Arg43Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Arg442Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Arg454Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Arg52Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Arg52His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Arg591His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Arg62Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Arg657Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Arg67Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Arg95Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Asn134Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Asn269Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Asn269Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Asn339Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Asn54Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Asp186His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Asp319Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Asp370Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Asp425Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Asp430Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Asp503Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Asp511Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Asp550Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Asp590Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Asp674Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Asp674Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Asp69Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Asp86Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Asp94Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Cys303Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Gln169His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Gln248Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Gln284Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Gln372Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Gln376His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Gln378Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Gln407Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Gln407His
Uncertain significance
Single submitter
primary ciliary dyskinesia
- ODAD1 p.Gln416Leu Uncertain significance Single submitter
-
ODAD1 p.Glu112Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Glu125Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Glu179Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
- ODAD1 p.Glu234Asp Uncertain significance Single submitter
-
ODAD1 p.Glu234Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Glu282Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Glu354Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Glu393Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
Predictors split 33
The independent predictors disagree with each other — read with care.
-
ODAD1 p.Arg100Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Arg127Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Arg184Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Arg189Cys
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Arg333Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Arg538Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Arg61Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Arg83Trp
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia 20
-
ODAD1 p.Arg89Pro
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Glu223Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.His203Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Ile341Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Leu549Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD1 p.Ala116Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Arg150Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Arg189Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Arg233Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Arg235Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Arg252Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Arg366Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Arg61Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Arg85Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Arg85Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Arg95Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Asn157Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Asp441Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Gln113Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.His256Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.His261Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
- ODAD1 p.Ile451Asn Uncertain significance Single submitter
-
ODAD1 p.Phe166Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Thr637Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD1 p.Tyr327Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
All ODAD1 variants
Pathogenic 11
- c.598-2A>G Multiple submitters CCDC114-related disorders
- p.Arg151fs Multiple submitters primary ciliary dyskinesia
- c.170+1G>A Single submitter primary ciliary dyskinesia
- c.483+1G>A Single submitter primary ciliary dyskinesia
- c.71-2A>C Single submitter primary ciliary dyskinesia 20
- p.Gln248Ter Single submitter primary ciliary dyskinesia 20
- p.Gln416Ter Single submitter primary ciliary dyskinesia 20
- p.Gln51Ter Single submitter primary ciliary dyskinesia
- p.His350fs Single submitter Adams-Oliver syndrome 5
- p.Leu142fs Single submitter primary ciliary dyskinesia
- p.Tyr45fs Single submitter primary ciliary dyskinesia
Pathogenic/Likely pathogenic 7
- c.1502+5G>A Multiple submitters primary ciliary dyskinesia
- c.597+1G>A Multiple submitters CCDC114-related disorders
- p.Ala285Thr Multiple submitters CCDC114 & ODAD1-related disorders ⚠
- p.Arg150Ter Multiple submitters primary ciliary dyskinesia 1
- p.Gln120Ter Multiple submitters primary ciliary dyskinesia 20
- p.Lys133fs Multiple submitters CCDC114-related disorders
- p.Pro273fs Multiple submitters ODAD1-related disorder
Likely pathogenic 11
- c.1503-2A>G Multiple submitters CCDC114-related disorders
- c.1404+2T>C Single submitter CCDC114-related disorders
- c.1405-2A>G Single submitter primary ciliary dyskinesia
- c.170+2T>C Single submitter primary ciliary dyskinesia
- c.360+1G>A Single submitter primary ciliary dyskinesia
- c.598-2A>C Single submitter primary ciliary dyskinesia 20
- c.665+1G>A Single submitter primary ciliary dyskinesia
- c.988+2T>C Single submitter primary ciliary dyskinesia
- c.988+5G>A Single submitter primary ciliary dyskinesia
- p.Glu109fs Single submitter CCDC114-related disorders
- p.Glu353fs Single submitter primary ciliary dyskinesia 20
Conflicting classifications of pathogenicity 19
- c.361-10T>C Single submitter primary ciliary dyskinesia
- c.598-5C>G Single submitter primary ciliary dyskinesia
- p.Ala236Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala247Val Single submitter primary ciliary dyskinesia ⚠
- p.Arg33Ter Single submitter primary ciliary dyskinesia 20
- p.Arg400Cys Single submitter primary ciliary dyskinesia ⚠
- p.Asp475Asn Single submitter primary ciliary dyskinesia 20 ⚠
- p.Glu156Gly Single submitter primary ciliary dyskinesia
- p.Gly669Arg Single submitter primary ciliary dyskinesia ⚠
- p.His373Arg Single submitter primary ciliary dyskinesia ⚠
- p.Leu408Met Single submitter primary ciliary dyskinesia ⚠
- p.Phe507_Glu508insTer Single submitter primary ciliary dyskinesia
- p.Pro494Leu Single submitter primary ciliary dyskinesia ⚠
- p.Ser209Asn Single submitter primary ciliary dyskinesia ⚠
- p.Ser392Leu Single submitter primary ciliary dyskinesia ⚠
- p.Ser438Asn Single submitter primary ciliary dyskinesia ⚠
- p.Thr126Met Single submitter primary ciliary dyskinesia ⚠
- p.Val555Met Single submitter primary ciliary dyskinesia ⚠
- p.Val686Ile Single submitter primary ciliary dyskinesia ⚠
Benign 26
- c.1502+39C>T Multiple submitters
- c.1503-122A>G Multiple submitters
- c.171-63G>T Multiple submitters
- c.597+73C>T Multiple submitters
- c.598-5C>A Multiple submitters primary ciliary dyskinesia 20
- c.665+219G>A Multiple submitters
- c.71-12C>T Multiple submitters
- c.988+41C>T Multiple submitters
- c.989-268G>A Multiple submitters
- c.*242G>A Multiple submitters
- p.Ala536Ser Multiple submitters primary ciliary dyskinesia
- p.Ala544= Multiple submitters primary ciliary dyskinesia 20
- p.Arg366His Multiple submitters primary ciliary dyskinesia
- p.Arg405Gln Multiple submitters primary ciliary dyskinesia 20
- p.Arg62His Multiple submitters primary ciliary dyskinesia
- p.Asp270Asn Multiple submitters primary ciliary dyskinesia
- p.Glu357= Multiple submitters primary ciliary dyskinesia 20
- p.Pro579= Multiple submitters primary ciliary dyskinesia
- p.Ser675Leu Multiple submitters primary ciliary dyskinesia
- c.1581+17C>T Single submitter primary ciliary dyskinesia
- c.360+299C>T Single submitter
- c.597+338G>T Single submitter
- c.666-214C>T Single submitter
- c.71-208del Single submitter
- c.988+10dup Single submitter primary ciliary dyskinesia
- c.989-29_989-16del Single submitter primary ciliary dyskinesia
Benign/Likely benign 32
- c.1404+20C>A Multiple submitters primary ciliary dyskinesia
- c.1404+8A>G Multiple submitters primary ciliary dyskinesia
- c.1582-16T>C Multiple submitters primary ciliary dyskinesia
- c.666-4G>A Multiple submitters primary ciliary dyskinesia
- c.988+11C>A Multiple submitters primary ciliary dyskinesia
- c.*15A>G Multiple submitters
- p.Ala174= Multiple submitters primary ciliary dyskinesia
- p.Ala236= Multiple submitters primary ciliary dyskinesia
- p.Ala536= Multiple submitters primary ciliary dyskinesia
- p.Ala544Thr Multiple submitters primary ciliary dyskinesia
- p.Ala546Thr Multiple submitters primary ciliary dyskinesia
- p.Ala558Thr Multiple submitters primary ciliary dyskinesia 20
- p.Arg189Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg83Trp Multiple submitters primary ciliary dyskinesia 20 ⚠
- p.Arg89Pro Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp194= Multiple submitters primary ciliary dyskinesia
- p.Asp306= Multiple submitters primary ciliary dyskinesia
- p.Asp425= Multiple submitters primary ciliary dyskinesia
- p.Asp475= Multiple submitters primary ciliary dyskinesia
- p.Asp550= Multiple submitters primary ciliary dyskinesia
- p.Glu244Lys Multiple submitters primary ciliary dyskinesia
- p.Gly286Arg Multiple submitters primary ciliary dyskinesia
- p.His596= Multiple submitters primary ciliary dyskinesia 20
- p.His622= Multiple submitters primary ciliary dyskinesia
- p.Ile185= Multiple submitters primary ciliary dyskinesia
- p.Leu232= Multiple submitters primary ciliary dyskinesia
- p.Pro275= Multiple submitters primary ciliary dyskinesia
- p.Ser392= Multiple submitters primary ciliary dyskinesia
- p.Ser673= Multiple submitters primary ciliary dyskinesia
- p.Ser676Asn Multiple submitters primary ciliary dyskinesia 20
- p.Thr560= Multiple submitters primary ciliary dyskinesia
- p.Val568Ile Multiple submitters primary ciliary dyskinesia
Likely benign 217
- c.1240+9C>A Multiple submitters primary ciliary dyskinesia
- c.1241-4G>A Multiple submitters primary ciliary dyskinesia
- c.1502+8G>A Multiple submitters primary ciliary dyskinesia 20
- c.170+12G>A Multiple submitters primary ciliary dyskinesia
- c.360+18G>T Multiple submitters primary ciliary dyskinesia
- c.666-16C>T Multiple submitters primary ciliary dyskinesia
- c.853+19C>T Multiple submitters primary ciliary dyskinesia
- c.988+81G>A Multiple submitters
- p.Ala105= Multiple submitters primary ciliary dyskinesia
- p.Ala247= Multiple submitters primary ciliary dyskinesia
- p.Ala474= Multiple submitters primary ciliary dyskinesia
- p.Ala545= Multiple submitters primary ciliary dyskinesia
- p.Ala547= Multiple submitters primary ciliary dyskinesia
- p.Ala547dup Multiple submitters primary ciliary dyskinesia
- p.Ala563= Multiple submitters primary ciliary dyskinesia
- p.Arg115= Multiple submitters primary ciliary dyskinesia
- p.Arg235= Multiple submitters primary ciliary dyskinesia
- p.Arg538His Multiple submitters primary ciliary dyskinesia
- p.Arg706Gln Multiple submitters primary ciliary dyskinesia
- p.Asn269= Multiple submitters primary ciliary dyskinesia
- p.Asn342= Multiple submitters primary ciliary dyskinesia
- p.Asp186Tyr Multiple submitters primary ciliary dyskinesia
- p.Asp274= Multiple submitters primary ciliary dyskinesia
- p.Cys424= Multiple submitters primary ciliary dyskinesia
- p.Glu109Lys Multiple submitters primary ciliary dyskinesia
- p.Glu332= Multiple submitters primary ciliary dyskinesia
- p.Glu343= Multiple submitters primary ciliary dyskinesia
- p.Glu48= Multiple submitters primary ciliary dyskinesia
- p.Gly600= Multiple submitters primary ciliary dyskinesia
- p.Gly658= Multiple submitters primary ciliary dyskinesia
- p.Gly665= Multiple submitters primary ciliary dyskinesia
- p.Gly690= Multiple submitters primary ciliary dyskinesia
- p.His262Arg Multiple submitters primary ciliary dyskinesia
- p.Ile330= Multiple submitters primary ciliary dyskinesia
- p.Leu204= Multiple submitters primary ciliary dyskinesia
- p.Leu679= Multiple submitters primary ciliary dyskinesia
- p.Lys381= Multiple submitters primary ciliary dyskinesia
- p.Pro138= Multiple submitters primary ciliary dyskinesia
- p.Pro273= Multiple submitters primary ciliary dyskinesia
- p.Pro697= Multiple submitters primary ciliary dyskinesia
- p.Ser243= Multiple submitters primary ciliary dyskinesia
- p.Ser312= Multiple submitters primary ciliary dyskinesia
- p.Ser364= Multiple submitters primary ciliary dyskinesia
- p.Ser668= Multiple submitters primary ciliary dyskinesia
- p.Ser75= Multiple submitters primary ciliary dyskinesia
- p.Thr126= Multiple submitters primary ciliary dyskinesia
- p.Thr420= Multiple submitters primary ciliary dyskinesia
- p.Thr614= Multiple submitters primary ciliary dyskinesia
- p.Val292Ile Multiple submitters primary ciliary dyskinesia
- c.1071+10G>C Single submitter primary ciliary dyskinesia
- c.1071+11C>G Single submitter
- c.1071+12C>T Single submitter primary ciliary dyskinesia
- c.1071+14G>A Single submitter primary ciliary dyskinesia
- c.1071+23A>T Single submitter
- c.1072-13C>T Single submitter primary ciliary dyskinesia
- c.1072-20A>G Single submitter primary ciliary dyskinesia
- c.1240+11A>G Single submitter primary ciliary dyskinesia
- c.1240+16C>A Single submitter primary ciliary dyskinesia
- c.1240+16C>T Single submitter primary ciliary dyskinesia
- c.1240+17G>A Single submitter primary ciliary dyskinesia
- c.1240+8C>T Single submitter primary ciliary dyskinesia
- c.1241-14C>T Single submitter primary ciliary dyskinesia
- c.1241-15C>G Single submitter primary ciliary dyskinesia
- c.1241-17G>A Single submitter primary ciliary dyskinesia
- c.1241-18C>T Single submitter primary ciliary dyskinesia
- c.1241-5C>T Single submitter primary ciliary dyskinesia
- c.1241-6A>T Single submitter primary ciliary dyskinesia
- c.1241-9A>G Single submitter primary ciliary dyskinesia
- c.1404+10G>A Single submitter primary ciliary dyskinesia
- c.1404+17A>G Single submitter primary ciliary dyskinesia
- c.1404+9C>T Single submitter primary ciliary dyskinesia
- c.1405-18G>A Single submitter primary ciliary dyskinesia
- c.1405-5_1405-4del Single submitter primary ciliary dyskinesia
- c.1405-6C>G Single submitter primary ciliary dyskinesia
- c.1502+16G>T Single submitter primary ciliary dyskinesia
- c.1502+17_1502+21del Single submitter primary ciliary dyskinesia
- c.1503-16_1503-12dup Single submitter primary ciliary dyskinesia
- c.1503-18T>C Single submitter primary ciliary dyskinesia
- c.1503-5C>T Single submitter primary ciliary dyskinesia
- c.1503-9C>G Single submitter primary ciliary dyskinesia
- c.1581+18G>A Single submitter primary ciliary dyskinesia
- c.1581+20G>C Single submitter primary ciliary dyskinesia
- c.1582-18A>G Single submitter primary ciliary dyskinesia
- c.170+11C>T Single submitter primary ciliary dyskinesia
- c.170+18G>A Single submitter primary ciliary dyskinesia
- c.171-14C>T Single submitter primary ciliary dyskinesia
- c.360+10G>A Single submitter primary ciliary dyskinesia
- c.360+271G>A Single submitter
- c.361-14C>A Single submitter primary ciliary dyskinesia
- c.361-16A>G Single submitter primary ciliary dyskinesia
- c.361-7C>T Single submitter primary ciliary dyskinesia
- c.483+11A>G Single submitter primary ciliary dyskinesia
- c.483+15C>A Single submitter primary ciliary dyskinesia
- c.483+18G>C Single submitter primary ciliary dyskinesia
- c.484-13T>C Single submitter primary ciliary dyskinesia
- c.484-15C>A Single submitter primary ciliary dyskinesia
- c.484-20A>G Single submitter primary ciliary dyskinesia
- c.484-5C>T Single submitter
- c.484-7C>T Single submitter primary ciliary dyskinesia
- c.598-153del Single submitter
- c.598-6C>T Single submitter primary ciliary dyskinesia
- c.598-9C>A Single submitter primary ciliary dyskinesia
- c.665+14G>A Single submitter primary ciliary dyskinesia
- c.665+16A>G Single submitter primary ciliary dyskinesia
- c.665+197dup Single submitter
- c.665+8C>G Single submitter primary ciliary dyskinesia
- c.666-15G>A Single submitter primary ciliary dyskinesia
- c.666-15G>T Single submitter
- c.666-5C>T Single submitter primary ciliary dyskinesia
- c.666-7C>T Single submitter primary ciliary dyskinesia
- c.666-9C>T Single submitter primary ciliary dyskinesia
- c.853+15G>A Single submitter primary ciliary dyskinesia
- c.853+18G>A Single submitter primary ciliary dyskinesia
- c.853+43G>T Single submitter
- c.854-5C>T Single submitter primary ciliary dyskinesia
- c.854-7C>T Single submitter primary ciliary dyskinesia
- c.988+11C>T Single submitter primary ciliary dyskinesia
- c.988+14T>C Single submitter primary ciliary dyskinesia
- c.988+18T>G Single submitter primary ciliary dyskinesia
- c.988+7G>T Single submitter primary ciliary dyskinesia
- c.989-20G>A Single submitter primary ciliary dyskinesia
- c.989-4C>G Single submitter primary ciliary dyskinesia
- c.989-5C>A Single submitter primary ciliary dyskinesia
- c.989-76C>T Single submitter
- c.989-8T>C Single submitter primary ciliary dyskinesia
- c.*13G>A Single submitter
- p.Ala225= Single submitter primary ciliary dyskinesia
- p.Ala285= Single submitter primary ciliary dyskinesia
- p.Ala289= Single submitter primary ciliary dyskinesia
- p.Ala365= Single submitter primary ciliary dyskinesia
- p.Ala367Thr Single submitter primary ciliary dyskinesia
- p.Ala44= Single submitter primary ciliary dyskinesia
- p.Ala493= Single submitter primary ciliary dyskinesia
- p.Ala534= Single submitter primary ciliary dyskinesia
- p.Ala543= Single submitter primary ciliary dyskinesia
- p.Ala546= Single submitter primary ciliary dyskinesia
- p.Ala558= Single submitter primary ciliary dyskinesia
- p.Ala643Ser Single submitter primary ciliary dyskinesia
- p.Ala672= Single submitter primary ciliary dyskinesia
- p.Arg100= Single submitter primary ciliary dyskinesia
- p.Arg233Trp Single submitter primary ciliary dyskinesia
- p.Arg454= Single submitter primary ciliary dyskinesia
- p.Arg657= Single submitter primary ciliary dyskinesia
- p.Arg95= Single submitter primary ciliary dyskinesia
- p.Arg95His Single submitter primary ciliary dyskinesia
- p.Asn192= Single submitter primary ciliary dyskinesia
- p.Asp425Asn Single submitter primary ciliary dyskinesia
- p.Asp441= Single submitter primary ciliary dyskinesia
- p.Asp511= Single submitter primary ciliary dyskinesia
- p.Gln158= Single submitter primary ciliary dyskinesia
- p.Glu108Lys Single submitter primary ciliary dyskinesia
- p.Glu156= Single submitter primary ciliary dyskinesia
- p.Glu179= Single submitter
- p.Glu237= Single submitter primary ciliary dyskinesia
- p.Glu305= Single submitter primary ciliary dyskinesia
- p.Glu395= Single submitter primary ciliary dyskinesia
- p.Gly139= Single submitter primary ciliary dyskinesia
- p.Gly40= Single submitter primary ciliary dyskinesia
- p.Gly440Arg Single submitter primary ciliary dyskinesia
- p.Gly564Ser Single submitter primary ciliary dyskinesia
- p.Gly616= Single submitter primary ciliary dyskinesia
- p.Gly68= Single submitter primary ciliary dyskinesia
- p.Gly680= Single submitter primary ciliary dyskinesia
- p.Gly707= Single submitter primary ciliary dyskinesia
- p.His50= Single submitter primary ciliary dyskinesia
- p.His615= Single submitter primary ciliary dyskinesia
- p.His635= Single submitter primary ciliary dyskinesia
- p.His685= Single submitter primary ciliary dyskinesia
- p.Ile107= Single submitter primary ciliary dyskinesia
- p.Ile121= Single submitter primary ciliary dyskinesia
- p.Ile355= Single submitter primary ciliary dyskinesia
- p.Ile429= Single submitter primary ciliary dyskinesia
- p.Ile578= Single submitter primary ciliary dyskinesia
- p.Leu110= Single submitter primary ciliary dyskinesia
- p.Leu159= Single submitter primary ciliary dyskinesia
- p.Leu180= Single submitter primary ciliary dyskinesia
- p.Leu207= Single submitter primary ciliary dyskinesia
- p.Leu266= Single submitter primary ciliary dyskinesia
- p.Leu311= Single submitter primary ciliary dyskinesia
- p.Leu314= Single submitter primary ciliary dyskinesia
- p.Leu397= Single submitter primary ciliary dyskinesia
- p.Leu478= Single submitter primary ciliary dyskinesia
- p.Leu542= Single submitter primary ciliary dyskinesia
- p.Leu553= Single submitter primary ciliary dyskinesia
- p.Leu70= Single submitter primary ciliary dyskinesia
- p.Leu90= Single submitter primary ciliary dyskinesia
- p.Leu96= Single submitter primary ciliary dyskinesia
- p.Lys265= Single submitter
- p.Lys421Arg Single submitter primary ciliary dyskinesia
- p.Lys47= Single submitter
- p.Phe625= Single submitter primary ciliary dyskinesia
- p.Pro489= Single submitter primary ciliary dyskinesia
- p.Pro505= Single submitter primary ciliary dyskinesia
- p.Pro505Leu Single submitter primary ciliary dyskinesia
- p.Pro575= Single submitter primary ciliary dyskinesia
- p.Ser46= Single submitter primary ciliary dyskinesia
- p.Ser472= Single submitter primary ciliary dyskinesia
- p.Ser510= Single submitter primary ciliary dyskinesia
- p.Ser554= Single submitter primary ciliary dyskinesia
- p.Ser593= Single submitter primary ciliary dyskinesia
- p.Ser642= Single submitter primary ciliary dyskinesia
- p.Ser675= Single submitter primary ciliary dyskinesia
- p.Ser676= Single submitter primary ciliary dyskinesia
- p.Thr460= Single submitter primary ciliary dyskinesia
- p.Thr567= Single submitter primary ciliary dyskinesia
- p.Thr572= Single submitter primary ciliary dyskinesia
- p.Thr671= Single submitter primary ciliary dyskinesia
- p.Thr689= Single submitter primary ciliary dyskinesia
- p.Tyr190= Single submitter primary ciliary dyskinesia
- p.Tyr219= Single submitter primary ciliary dyskinesia
- p.Tyr304= Single submitter primary ciliary dyskinesia
- p.Val135= Single submitter primary ciliary dyskinesia
- p.Val146= Single submitter primary ciliary dyskinesia
- p.Val193Met Single submitter primary ciliary dyskinesia
- p.Val382Glu Single submitter primary ciliary dyskinesia
- p.Val524= Single submitter primary ciliary dyskinesia
- p.Glu13Gly No assertion criteria ODAD1-related disorder
Uncertain significance 267
- p.Ala105Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala174Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala307Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala399Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala413Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala547Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala630Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala692_Pro697dup Multiple submitters primary ciliary dyskinesia
- p.Ala76Thr Multiple submitters primary ciliary dyskinesia 20 ⚠
- p.Arg100Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg127Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg161Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg172Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg172Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg177Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg184Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg189His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg195Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg195His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg233Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg271Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg271Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg281His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg333Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg386His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg396Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg396Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg396His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg442Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg454Trp Multiple submitters primary ciliary dyskinesia
- p.Arg538Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg591Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg61Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg67Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg683Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg706Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg85Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg89Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg89Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn334Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn339Ser Multiple submitters primary ciliary dyskinesia 20 ⚠
- p.Asn92Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp186Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp550Tyr Multiple submitters primary ciliary dyskinesia ⚠
- p.Gln122His Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu223Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu240del Multiple submitters primary ciliary dyskinesia
- p.Glu331Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu360Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu398Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu518Asp Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly626Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly658fs Multiple submitters primary ciliary dyskinesia
- p.Gly665Ala Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly669fs Multiple submitters ODAD1-related disorder
- p.Gly677Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.His203Pro Multiple submitters primary ciliary dyskinesia ⚠
- p.His596Tyr Multiple submitters primary ciliary dyskinesia ⚠
- p.His608Tyr Multiple submitters primary ciliary dyskinesia 20 ⚠
- p.His615Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile212Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile341Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu142Pro Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu191Pro Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu374Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu383Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu446Phe Multiple submitters primary ciliary dyskinesia 20 ⚠
- p.Leu527Met Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu549Pro Multiple submitters primary ciliary dyskinesia ⚠
- p.Lys389Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Lys410Met Multiple submitters primary ciliary dyskinesia ⚠
- p.Lys491Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Met315Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Met515Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Met93Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Phe166_Asp167insArg Multiple submitters primary ciliary dyskinesia 20
- p.Phe599Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro138Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro273Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro489Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro494Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro697Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser209Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser438Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser484Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser644Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser645Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser676Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr614Met Multiple submitters primary ciliary dyskinesia ⚠
- p.Tyr646Phe Multiple submitters primary ciliary dyskinesia ⚠
- p.Val221Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Val636Met Multiple submitters primary ciliary dyskinesia ⚠
- p.Val653Met Multiple submitters primary ciliary dyskinesia ⚠
- c.1072-7C>T Single submitter primary ciliary dyskinesia
- c.1240+6C>T Single submitter primary ciliary dyskinesia
- c.1502+7C>T Single submitter primary ciliary dyskinesia
- c.1581+4A>G Single submitter primary ciliary dyskinesia
- c.1581+5G>A Single submitter primary ciliary dyskinesia
- c.170+3G>C Single submitter primary ciliary dyskinesia
- c.(360+1_361-1 Single submitter primary ciliary dyskinesia 20
- p.Ala101Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala105Glu Single submitter primary ciliary dyskinesia ⚠
- p.Ala116Pro Single submitter primary ciliary dyskinesia ⚠
- p.Ala220Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala236Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala241Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala307Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala365Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala367Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala394Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala534Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala534Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala536Leu Single submitter primary ciliary dyskinesia
- p.Ala536Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala543Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala545Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala546_Ala547dup Single submitter primary ciliary dyskinesia
- p.Ala547del Single submitter primary ciliary dyskinesia
- p.Ala547Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala558Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala643Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala692_Pro697del Single submitter primary ciliary dyskinesia
- p.Arg100Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg136Thr Single submitter primary ciliary dyskinesia ⚠
- p.Arg150Pro Single submitter primary ciliary dyskinesia ⚠
- p.Arg172Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg189Ser Single submitter primary ciliary dyskinesia ⚠
- p.Arg233Pro Single submitter primary ciliary dyskinesia ⚠
- p.Arg235Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg235His Single submitter primary ciliary dyskinesia ⚠
- p.Arg252Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg271Pro Single submitter primary ciliary dyskinesia ⚠
- p.Arg333His Single submitter ⚠
- p.Arg366Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg396Leu Single submitter primary ciliary dyskinesia ⚠
- p.Arg400His Single submitter primary ciliary dyskinesia ⚠
- p.Arg43Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg43Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg442Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg454Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg52Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg52His Single submitter primary ciliary dyskinesia ⚠
- p.Arg591His Single submitter primary ciliary dyskinesia ⚠
- p.Arg61Pro Single submitter primary ciliary dyskinesia ⚠
- p.Arg62Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg657Lys Single submitter primary ciliary dyskinesia ⚠
- p.Arg67Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg683_Ser688del Single submitter
- p.Arg85Pro Single submitter primary ciliary dyskinesia ⚠
- p.Arg85Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg95Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg95Pro Single submitter primary ciliary dyskinesia ⚠
- p.Asn134Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn157Ile Single submitter primary ciliary dyskinesia ⚠
- p.Asn269Lys Single submitter primary ciliary dyskinesia ⚠
- p.Asn269Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn339Thr Single submitter primary ciliary dyskinesia ⚠
- p.Asn54Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asp186His Single submitter primary ciliary dyskinesia ⚠
- p.Asp319Gly Single submitter primary ciliary dyskinesia ⚠
- p.Asp370Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Asp425Glu Single submitter primary ciliary dyskinesia ⚠
- p.Asp430Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp441Gly Single submitter primary ciliary dyskinesia ⚠
- p.Asp503Glu Single submitter primary ciliary dyskinesia ⚠
- p.Asp511Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp550Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp590Glu Single submitter primary ciliary dyskinesia ⚠
- p.Asp674Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp674Val Single submitter primary ciliary dyskinesia ⚠
- p.Asp69Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp86Gly Single submitter primary ciliary dyskinesia ⚠
- p.Asp94Glu Single submitter primary ciliary dyskinesia ⚠
- p.Cys303Ser Single submitter primary ciliary dyskinesia ⚠
- p.Gln113Pro Single submitter primary ciliary dyskinesia ⚠
- p.Gln169His Single submitter primary ciliary dyskinesia ⚠
- p.Gln248Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gln284Glu Single submitter primary ciliary dyskinesia ⚠
- p.Gln372Lys Single submitter primary ciliary dyskinesia ⚠
- p.Gln376His Single submitter primary ciliary dyskinesia ⚠
- p.Gln378Glu Single submitter primary ciliary dyskinesia ⚠
- p.Gln407Glu Single submitter primary ciliary dyskinesia ⚠
- p.Gln407His Single submitter primary ciliary dyskinesia ⚠
- p.Gln416Leu Single submitter ⚠
- p.Glu112Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu125Gln Single submitter primary ciliary dyskinesia ⚠
- p.Glu179Gln Single submitter primary ciliary dyskinesia ⚠
- p.Glu234Asp Single submitter ⚠
- p.Glu234Gly Single submitter primary ciliary dyskinesia ⚠
- p.Glu282Gln Single submitter primary ciliary dyskinesia ⚠
- p.Glu354Ala Single submitter primary ciliary dyskinesia ⚠
- p.Glu393Gly Single submitter primary ciliary dyskinesia ⚠
- p.Glu41Ala Single submitter primary ciliary dyskinesia ⚠
- p.Glu519= Single submitter
- p.Glu64Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu663Asp Single submitter primary ciliary dyskinesia ⚠
- p.Gly40Ala Single submitter primary ciliary dyskinesia ⚠
- p.Gly564Val Single submitter primary ciliary dyskinesia ⚠
- p.Gly580Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly595Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly600Ala Single submitter primary ciliary dyskinesia ⚠
- p.Gly601Ser Single submitter primary ciliary dyskinesia ⚠
- p.Gly633Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly658Asp Single submitter primary ciliary dyskinesia ⚠
- p.Gly659Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly670Asp Single submitter primary ciliary dyskinesia ⚠
- p.Gly677_Ser682dup Single submitter primary ciliary dyskinesia
- p.Gly680Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly680Glu Single submitter primary ciliary dyskinesia ⚠
- p.Gly690Val Single submitter primary ciliary dyskinesia ⚠
- p.His131Arg Single submitter primary ciliary dyskinesia ⚠
- p.His256Pro Single submitter primary ciliary dyskinesia ⚠
- p.His261Pro Single submitter primary ciliary dyskinesia ⚠
- p.His391Tyr Single submitter primary ciliary dyskinesia ⚠
- p.His466Arg Single submitter primary ciliary dyskinesia ⚠
- p.His576Arg Single submitter primary ciliary dyskinesia ⚠
- p.His635Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Ile429Met Single submitter primary ciliary dyskinesia ⚠
- p.Ile451Asn Single submitter ⚠
- p.Ile451Thr Single submitter primary ciliary dyskinesia ⚠
- p.Leu183Arg Single submitter primary ciliary dyskinesia ⚠
- p.Leu183Pro Single submitter primary ciliary dyskinesia ⚠
- p.Leu488Phe Single submitter primary ciliary dyskinesia ⚠
- p.Leu527Val Single submitter primary ciliary dyskinesia ⚠
- p.Lys410Glu Single submitter primary ciliary dyskinesia ⚠
- p.Lys540Asn Single submitter primary ciliary dyskinesia ⚠
- p.Met229Val Single submitter primary ciliary dyskinesia ⚠
- p.Met245Thr Single submitter primary ciliary dyskinesia ⚠
- p.Met315Ile Single submitter primary ciliary dyskinesia ⚠
- p.Met315Leu Single submitter primary ciliary dyskinesia ⚠
- p.Met492Arg Single submitter primary ciliary dyskinesia ⚠
- p.Phe166Ser Single submitter primary ciliary dyskinesia ⚠
- p.Phe419Cys Single submitter primary ciliary dyskinesia
- p.Pro138Gln Single submitter primary ciliary dyskinesia ⚠
- p.Pro497Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro514_Met515insTer Single submitter primary ciliary dyskinesia
- p.Ser132Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ser312Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Ser449Arg Single submitter primary ciliary dyskinesia ⚠
- p.Ser516Asn Single submitter primary ciliary dyskinesia ⚠
- p.Ser554Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ser627Phe Single submitter primary ciliary dyskinesia ⚠
- p.Ser631Leu Single submitter primary ciliary dyskinesia ⚠
- p.Ser642Asn Single submitter primary ciliary dyskinesia ⚠
- p.Ser676Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ser682Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ser700fs Single submitter primary ciliary dyskinesia
- p.Ser702Thr Single submitter primary ciliary dyskinesia ⚠
- p.Thr126Ala Single submitter primary ciliary dyskinesia ⚠
- p.Thr130Ala Single submitter primary ciliary dyskinesia ⚠
- p.Thr130Ile Single submitter primary ciliary dyskinesia ⚠
- p.Thr210Ser Single submitter primary ciliary dyskinesia ⚠
- p.Thr637Ile Single submitter primary ciliary dyskinesia ⚠
- p.Thr671_Gly678del Single submitter primary ciliary dyskinesia
- p.Tyr327Cys Single submitter primary ciliary dyskinesia ⚠
- p.Val249Ala Single submitter primary ciliary dyskinesia ⚠
- p.Val249Asp Single submitter primary ciliary dyskinesia ⚠
- p.Val277Phe Single submitter primary ciliary dyskinesia ⚠
- p.Val363Gly Single submitter primary ciliary dyskinesia ⚠
- p.Val404Met Single submitter primary ciliary dyskinesia ⚠
- p.Val456Ala Single submitter primary ciliary dyskinesia ⚠
- p.Val480Ala Single submitter primary ciliary dyskinesia ⚠
- p.Val49Phe Single submitter primary ciliary dyskinesia ⚠
- p.Val568Leu Single submitter primary ciliary dyskinesia ⚠
- p.Val570Met Single submitter primary ciliary dyskinesia ⚠
- p.Val597Ile Single submitter primary ciliary dyskinesia ⚠
- p.Val641Ile Single submitter primary ciliary dyskinesia ⚠