ODAD2 — 709 ClinVar variants
All ClinVar germline ODAD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 275 flagged for review →
35 Pathogenic · 9 Pathogenic/Likely pathogenic · 25 Likely pathogenic · 15 Conflicting · 54 Benign · 26 Benign/Likely benign · 256 Likely benign · 289 Uncertain significance
Full ODAD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 275
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 11
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ODAD2 p.Arg570Gln
Conflicting
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Glu335Ala
Conflicting
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Glu368Gln
Conflicting
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Leu716Arg
Conflicting
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Pro769His
Conflicting
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Ser191Pro
Conflicting
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Ser426Asn
Conflicting
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Thr9Met
Conflicting
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Trp740Arg
Conflicting
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Val282Ile
Conflicting
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Val295Leu
Conflicting
Single submitter
primary ciliary dyskinesia 23
Predictors lean, ClinVar uncertain 210
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 210
-
ODAD2 p.Ala1005Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Ala128Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Ala694Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Ala694Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Ala856Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD2 p.Ala994Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Arg340His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Arg440Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD2 p.Arg440His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Arg570Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Arg609His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD2 p.Arg639Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Arg639Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD2 p.Arg707Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Arg731Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Arg877His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD2 p.Arg948Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD2 p.Arg970His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD2 p.Arg970Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Arg981Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Arg981Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Asn216Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD2 p.Asn978Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD2 p.Asp256Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Asp425Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Asp433Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD2 p.Cys783Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Cys865Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Gln574Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD2 p.Glu230Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Glu601Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Glu663Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Glu786Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD2 p.Gly257Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Gly267Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Gly268Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Gly407Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Gly495Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD2 p.Gly577Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Gly960Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.His523Tyr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.His548Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD2 p.His622Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Ile419Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Ile490Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Ile531Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Ile531Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Ile539Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Ile758Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Ile834Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Leu174Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Leu178Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD2 p.Leu182Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD2 p.Leu397Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Leu641Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Lys145Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Lys392Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Lys642Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Pro132Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Pro254Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD2 p.Ser947Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Thr143Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Thr623Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Trp359Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Val532Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Val803Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Val854Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD2 p.Ala128Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Ala472Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Ala568Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Ala568Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Ala595Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Ala627Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Ala638Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Ala671Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Ala757Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Ala899Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Ala982Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Ala982Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Ala994Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Arg109His
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Arg236Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Arg340Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Arg440Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Arg491Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Arg609Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Arg629His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Arg666Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Arg790Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Arg841Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Arg948His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Asn184Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Asn216Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Asn272Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Asn724Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Asn724Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Asn868Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Asn87Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Asn888Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Asn936Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Asn975Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Asn975His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Asn996Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Asp281Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Asp325Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Asp835Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Asp853Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Asp911Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Cys865Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Gln123Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Gln123Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Gln177Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Gln177Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Gln326Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Gln355Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Gln355Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Gln596Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Gln596His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Gln596Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Gln688Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
- ODAD2 p.Gln699Arg Uncertain significance Single submitter
-
ODAD2 p.Gln699Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Glu164Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Glu221Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Glu434Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Glu450Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Glu497Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Glu504Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Glu691Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Glu754Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Glu829Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Gly105Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Gly273Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Gly313Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Gly536Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Gly633Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Gly633Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Gly714Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Gly714Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Gly797Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.His1001Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.His181Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.His189Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.His962Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
- ODAD2 p.His980Arg Uncertain significance Single submitter
-
ODAD2 p.Ile113Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Ile149Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Ile167Met
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Ile190Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Ile262Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
Predictors split 54
The independent predictors disagree with each other — read with care.
-
ODAD2 p.Ala560Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Ala966Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Arg109Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Arg666Gln
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia
-
ODAD2 p.Arg707Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Arg753Gln
Uncertain significance
Multiple submitters
ODAD2-related disorder
-
ODAD2 p.Arg753Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Arg787Cys
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia
-
ODAD2 p.Arg836Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD2 p.Arg841His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD2 p.Arg981Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Cys510Tyr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Gly873Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
ODAD2 p.Met540Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 23
-
ODAD2 p.Ala872Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Arg1033Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Arg569Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Arg569Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Arg794Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Arg794Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Arg970Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Asp433His
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Asp871Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
- ODAD2 p.Cys950Ser Uncertain significance Single submitter
-
ODAD2 p.Gln217Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Glu127Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Glu896Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Gly1004Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
- ODAD2 p.Gly288Val Uncertain significance Single submitter
-
ODAD2 p.Gly576Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Gly873Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Gly88Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
- ODAD2 p.Gly960Ser Uncertain significance Single submitter
-
ODAD2 p.His1001Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Ile262Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Ile490Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Leu584Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Leu709Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Leu709Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Leu842Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Lys516Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Lys729Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Met1000Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Met831Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Pro801Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Pro925His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Ser1029Phe
Conflicting
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Ser430Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Ser617Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Thr505Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Val652Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Val815Met
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
ODAD2 p.Val887Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia 23
-
ODAD2 p.Gly922Glu
Likely pathogenic
No assertion criteria
male infertility
All ODAD2 variants
Pathogenic 35
- c.2495+1G>A Multiple submitters primary ciliary dyskinesia 23
- p.Arg286fs Multiple submitters primary ciliary dyskinesia 23
- p.Gln657Ter Multiple submitters primary ciliary dyskinesia 23
- p.Glu557Ter Multiple submitters ARMC4-related disorders
- p.Glu658Ter Multiple submitters primary ciliary dyskinesia 23
- p.Glu672Ter Multiple submitters Fetal anomalies with a likely genetic cause
- p.Glu83Ter Multiple submitters primary ciliary dyskinesia 23
- p.Leu802_Val803insTer Multiple submitters primary ciliary dyskinesia 23
- p.Ser892Ter Multiple submitters primary ciliary dyskinesia 23
- c.382+995_936+335del Single submitter primary ciliary dyskinesia 23
- p.Ala734fs Single submitter primary ciliary dyskinesia 23
- p.Arg790Ter Single submitter primary ciliary dyskinesia 23
- p.Asn914_Leu915insTer Single submitter primary ciliary dyskinesia 23
- p.Asn914fs Single submitter primary ciliary dyskinesia 23
- p.Asn936fs Single submitter primary ciliary dyskinesia 23
- p.Cys261fs Single submitter primary ciliary dyskinesia 23
- p.Cys486Ter Single submitter primary ciliary dyskinesia 23
- p.Cys949fs Single submitter primary ciliary dyskinesia 23
- p.Gln106Ter Single submitter primary ciliary dyskinesia 23
- p.Gln242Ter Single submitter primary ciliary dyskinesia 23
- p.His189fs Single submitter primary ciliary dyskinesia 23
- p.Ile113fs Single submitter primary ciliary dyskinesia
- p.Ile517fs Single submitter primary ciliary dyskinesia 23
- p.Ile905fs Single submitter primary ciliary dyskinesia 23
- p.Leu119fs Single submitter primary ciliary dyskinesia 23
- p.Leu260fs Single submitter primary ciliary dyskinesia 23
- p.Lys549fs Single submitter primary ciliary dyskinesia 23
- p.Pro132fs Single submitter primary ciliary dyskinesia
- p.Ser289Ter Single submitter primary ciliary dyskinesia 23
- p.Ser428Ter Single submitter
- p.Thr263fs Single submitter primary ciliary dyskinesia 23
- p.Thr296fs Single submitter primary ciliary dyskinesia 23
- p.Thr422_Val423insTer Single submitter primary ciliary dyskinesia 23
- p.Tyr971fs Single submitter primary ciliary dyskinesia 23
- p.Arg109fs No assertion criteria primary ciliary dyskinesia
Pathogenic/Likely pathogenic 9
- c.2097+1G>A Multiple submitters primary ciliary dyskinesia 23
- c.2097+1G>T Multiple submitters primary ciliary dyskinesia
- c.2800-2A>G Multiple submitters primary ciliary dyskinesia 23
- p.Glu335Ter Multiple submitters ARMC4-related disorders
- p.Leu927Trp Multiple submitters primary ciliary dyskinesia 23
- p.Ser475Ter Multiple submitters ARMC4-related disorders
- p.Trp359Ter Multiple submitters ODAD2-related disorder
- p.Trp740Ter Multiple submitters primary ciliary dyskinesia 23
- p.Tyr698fs Multiple submitters Fetal anomalies with a likely genetic cause
Likely pathogenic 25
- c.383-1G>T Multiple submitters primary ciliary dyskinesia 23
- c.576-2A>T Multiple submitters ARMC4-related disorders
- c.1143-1G>A Single submitter primary ciliary dyskinesia 23
- c.1143-1G>T Single submitter primary ciliary dyskinesia 23
- c.1143-487_1986+160dup Single submitter primary ciliary dyskinesia 23
- c.1238+1G>A Single submitter
- c.1387-808_1744-1080del Single submitter primary ciliary dyskinesia 23
- c.1743+1G>C Single submitter primary ciliary dyskinesia 23
- c.2252+1G>C Single submitter primary ciliary dyskinesia 23
- c.2611-2A>G Single submitter primary ciliary dyskinesia 23
- c.2799+1G>A Single submitter primary ciliary dyskinesia 23
- c.2799+2T>C Single submitter primary ciliary dyskinesia 23
- c.820-1G>A Single submitter primary ciliary dyskinesia 23
- c.936+1G>A Single submitter primary ciliary dyskinesia 23
- c.936+1G>T Single submitter primary ciliary dyskinesia 23
- c.937-2A>C Single submitter ARMC4-related disorders
- p.Ala671fs Single submitter primary ciliary dyskinesia 23
- p.Asn530fs Single submitter ARMC4-related disorders
- p.Cys264Ter Single submitter ARMC4-related disorders
- p.Gln768Ter Single submitter primary ciliary dyskinesia 23
- p.Glu896fs Single submitter ARMC4-related disorders
- p.Ile419fs Single submitter ARMC4-related disorders
- p.Phe51fs Single submitter primary ciliary dyskinesia 23
- p.Ser947Ter Single submitter primary ciliary dyskinesia 23
- p.Gly922Glu No assertion criteria male infertility ⚠
Conflicting classifications of pathogenicity 15
- p.Ala858Thr Single submitter primary ciliary dyskinesia 23
- p.Arg570Gln Single submitter primary ciliary dyskinesia 23 ⚠
- p.Glu335Ala Single submitter primary ciliary dyskinesia 23 ⚠
- p.Glu368Gln Single submitter primary ciliary dyskinesia 23 ⚠
- p.Gly781Val Single submitter primary ciliary dyskinesia 23
- p.Leu716Arg Single submitter primary ciliary dyskinesia ⚠
- p.Pro769His Single submitter primary ciliary dyskinesia ⚠
- p.Ser1029Phe Single submitter primary ciliary dyskinesia 23 ⚠
- p.Ser191Pro Single submitter primary ciliary dyskinesia 23 ⚠
- p.Ser426Asn Single submitter primary ciliary dyskinesia 23 ⚠
- p.Thr9Met Single submitter primary ciliary dyskinesia 23 ⚠
- p.Trp740Arg Single submitter primary ciliary dyskinesia 23 ⚠
- p.Val282Ile Single submitter primary ciliary dyskinesia 23 ⚠
- p.Val295Leu Single submitter primary ciliary dyskinesia 23 ⚠
- p.Val979Met Single submitter primary ciliary dyskinesia 23
Benign 54
- c.1142+97G>A Multiple submitters
- c.1143-10T>G Multiple submitters primary ciliary dyskinesia 23
- c.1143-87C>T Multiple submitters
- c.1387-40C>T Multiple submitters primary ciliary dyskinesia 23
- c.1387-42T>C Multiple submitters primary ciliary dyskinesia 23
- c.1534-109A>T Multiple submitters
- c.1534-28G>A Multiple submitters
- c.1743+11G>A Multiple submitters primary ciliary dyskinesia 23
- c.1743+31T>G Multiple submitters primary ciliary dyskinesia 23
- c.1743+79C>T Multiple submitters
- c.2097+55A>G Multiple submitters
- c.2098-88C>A Multiple submitters
- c.2610+123G>A Multiple submitters
- c.3021+29C>T Multiple submitters
- c.382+42C>T Multiple submitters
- c.820-101G>A Multiple submitters
- c.820-257G>C Multiple submitters
- c.*130A>G Multiple submitters
- p.Arg413Gln Multiple submitters primary ciliary dyskinesia 23
- p.Arg413Gly Multiple submitters primary ciliary dyskinesia 23
- p.Asn686= Multiple submitters primary ciliary dyskinesia 23
- p.Asn935Lys Multiple submitters primary ciliary dyskinesia
- p.Gly778= Multiple submitters primary ciliary dyskinesia 23
- p.Ile343Thr Multiple submitters primary ciliary dyskinesia 23
- p.Pro239= Multiple submitters primary ciliary dyskinesia 23
- p.Ser424= Multiple submitters primary ciliary dyskinesia 23
- c.1142+89GTTT[2] Single submitter
- c.1142+93_1142+100del Single submitter
- c.1142+98TTTA[11] Single submitter
- c.1142+98TTTA[8] Single submitter
- c.1142+98TTTA[9] Single submitter
- c.1239-308G>T Single submitter
- c.1386+222C>T Single submitter
- c.1534-10del Single submitter primary ciliary dyskinesia 23
- c.1986+13G>A Single submitter primary ciliary dyskinesia 23
- c.1987-251_1987-250insTG Single submitter
- c.1987-255_1987-254insACAT Single submitter
- c.1987-258CA[3] Single submitter
- c.2097+276G>C Single submitter
- c.2098-274G>A Single submitter
- c.2496-125dup Single submitter
- c.2610+160dup Single submitter
- c.2611-181AC[5] Single submitter
- c.2611-54del Single submitter
- c.2800-208G>A Single submitter
- c.2800-233G>A Single submitter
- c.383-222G>T Single submitter
- c.936+177G>T Single submitter
- c.937-139C>G Single submitter
- c.937-301T>C Single submitter
- c.*326_*327del Single submitter
- c.3021+7232TTAT[10] No assertion criteria ODAD2-related disorder
- c.3021+7232TTAT[11] No assertion criteria ODAD2-related disorder
- c.3021+7232TTAT[8] No assertion criteria ODAD2-related disorder
Benign/Likely benign 26
- c.1533+13G>C Multiple submitters primary ciliary dyskinesia 23
- c.1534-18dup Multiple submitters primary ciliary dyskinesia 23
- c.1534-19C>G Multiple submitters primary ciliary dyskinesia 23
- c.2253-13A>T Multiple submitters primary ciliary dyskinesia 23
- c.2253-20C>T Multiple submitters primary ciliary dyskinesia 23
- c.2496-12G>T Multiple submitters primary ciliary dyskinesia 23
- c.2610+11A>G Multiple submitters primary ciliary dyskinesia 23
- c.383-19_383-18dup Multiple submitters
- c.383-19dup Multiple submitters primary ciliary dyskinesia 23
- c.383-6del Multiple submitters primary ciliary dyskinesia 23
- c.383-7_383-6del Multiple submitters
- p.Ala416= Multiple submitters primary ciliary dyskinesia
- p.Ala994= Multiple submitters primary ciliary dyskinesia 23
- p.Arg666Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg666Pro Multiple submitters primary ciliary dyskinesia
- p.Arg787Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp204Glu Multiple submitters primary ciliary dyskinesia 23
- p.Asp425Tyr Multiple submitters primary ciliary dyskinesia
- p.Asp993= Multiple submitters primary ciliary dyskinesia 23
- p.Asp995Asn Multiple submitters primary ciliary dyskinesia 23
- p.Leu339= Multiple submitters primary ciliary dyskinesia 23
- p.Leu709= Multiple submitters primary ciliary dyskinesia 23
- p.Lys332Arg Multiple submitters primary ciliary dyskinesia 23
- p.Lys552Gln Multiple submitters primary ciliary dyskinesia
- p.Thr9= Multiple submitters primary ciliary dyskinesia 23
- p.Tyr141= Multiple submitters primary ciliary dyskinesia 23
Likely benign 256
- c.1142+101A>G Multiple submitters
- c.1142+93G>A Multiple submitters
- c.1239-13T>A Multiple submitters primary ciliary dyskinesia 23
- c.1386+11T>C Multiple submitters primary ciliary dyskinesia 23
- c.1386+14A>G Multiple submitters primary ciliary dyskinesia 23
- c.1533+12T>C Multiple submitters primary ciliary dyskinesia 23
- c.1533+41A>T Multiple submitters
- c.1533+85C>T Multiple submitters
- c.1534-12T>C Multiple submitters primary ciliary dyskinesia 23
- c.1986+13G>T Multiple submitters primary ciliary dyskinesia 23
- c.1987-36T>C Multiple submitters
- c.2097+107A>G Multiple submitters
- c.225-73A>G Multiple submitters
- c.2496-7A>G Multiple submitters primary ciliary dyskinesia 23
- c.2610+8C>G Multiple submitters primary ciliary dyskinesia 23
- c.2800-35A>G Multiple submitters
- c.2800-6G>T Multiple submitters primary ciliary dyskinesia 23
- c.383-19_383-17dup Multiple submitters
- c.683-18C>G Multiple submitters primary ciliary dyskinesia 23
- c.819+52C>T Multiple submitters
- p.Ala614= Multiple submitters primary ciliary dyskinesia
- p.Ala757= Multiple submitters primary ciliary dyskinesia
- p.Ala982= Multiple submitters primary ciliary dyskinesia 23
- p.Arg130= Multiple submitters primary ciliary dyskinesia 23
- p.Arg244His Multiple submitters primary ciliary dyskinesia
- p.Asn677= Multiple submitters primary ciliary dyskinesia 23
- p.Asn748= Multiple submitters primary ciliary dyskinesia 23
- p.Asn978= Multiple submitters primary ciliary dyskinesia
- p.Asp281= Multiple submitters primary ciliary dyskinesia 23
- p.Cys693= Multiple submitters primary ciliary dyskinesia 23
- p.Gln320= Multiple submitters primary ciliary dyskinesia 23
- p.Gln410Glu Multiple submitters primary ciliary dyskinesia 23
- p.Gln487Leu Multiple submitters primary ciliary dyskinesia 23
- p.Glu206= Multiple submitters primary ciliary dyskinesia
- p.Glu224= Multiple submitters primary ciliary dyskinesia 23
- p.Glu730= Multiple submitters primary ciliary dyskinesia 23
- p.His255= Multiple submitters primary ciliary dyskinesia 23
- p.His406= Multiple submitters primary ciliary dyskinesia 23
- p.Ile559= Multiple submitters primary ciliary dyskinesia 23
- p.Ile758= Multiple submitters primary ciliary dyskinesia 23
- p.Leu178= Multiple submitters primary ciliary dyskinesia
- p.Lys156= Multiple submitters primary ciliary dyskinesia 23
- p.Lys717= Multiple submitters primary ciliary dyskinesia 23
- p.Pro864= Multiple submitters primary ciliary dyskinesia 23
- p.Ser195Cys Multiple submitters primary ciliary dyskinesia 23
- p.Ser403Thr Multiple submitters primary ciliary dyskinesia 23
- p.Ser449= Multiple submitters primary ciliary dyskinesia 23
- p.Ser597= Multiple submitters primary ciliary dyskinesia 23
- p.Ser857= Multiple submitters primary ciliary dyskinesia
- p.Thr364= Multiple submitters primary ciliary dyskinesia 23
- p.Thr375= Multiple submitters primary ciliary dyskinesia 23
- p.Thr422= Multiple submitters primary ciliary dyskinesia 23
- p.Thr623= Multiple submitters primary ciliary dyskinesia 23
- p.Thr736= Multiple submitters primary ciliary dyskinesia 23
- p.Tyr451= Multiple submitters primary ciliary dyskinesia 23
- p.Val126= Multiple submitters primary ciliary dyskinesia 23
- p.Val219= Multiple submitters primary ciliary dyskinesia 23
- p.Val269= Multiple submitters primary ciliary dyskinesia
- c.1142+11A>G Single submitter primary ciliary dyskinesia 23
- c.1142+15G>A Single submitter primary ciliary dyskinesia 23
- c.1142+7A>T Single submitter primary ciliary dyskinesia 23
- c.1142+89GTTT[4] Single submitter
- c.1142+93_1142+104del Single submitter
- c.1142+93_1142+108del Single submitter
- c.1142+97_1142+104del Single submitter
- c.1238+44A>C Single submitter
- c.1239-14G>A Single submitter primary ciliary dyskinesia 23
- c.1386+17del Single submitter primary ciliary dyskinesia 23
- c.1386+19A>G Single submitter primary ciliary dyskinesia 23
- c.1387-10A>G Single submitter primary ciliary dyskinesia 23
- c.1387-15A>G Single submitter primary ciliary dyskinesia 23
- c.1387-17G>C Single submitter primary ciliary dyskinesia 23
- c.1387-4G>A Single submitter primary ciliary dyskinesia 23
- c.1387-4G>T Single submitter primary ciliary dyskinesia 23
- c.1533+106A>G Single submitter
- c.1533+10T>A Single submitter primary ciliary dyskinesia 23
- c.1534-20T>C Single submitter primary ciliary dyskinesia 23
- c.1743+10C>T Single submitter primary ciliary dyskinesia 23
- c.1744-10A>G Single submitter primary ciliary dyskinesia 23
- c.1744-19G>A Single submitter primary ciliary dyskinesia 23
- c.1986+10C>G Single submitter primary ciliary dyskinesia 23
- c.1986+11C>T Single submitter primary ciliary dyskinesia 23
- c.1986+16C>T Single submitter primary ciliary dyskinesia 23
- c.1987-16A>C Single submitter primary ciliary dyskinesia 23
- c.1987-174C>T Single submitter
- c.1987-19T>A Single submitter primary ciliary dyskinesia 23
- c.1987-19T>C Single submitter primary ciliary dyskinesia 23
- c.1987-4C>T Single submitter primary ciliary dyskinesia 23
- c.2097+20C>T Single submitter primary ciliary dyskinesia 23
- c.2097+8G>A Single submitter primary ciliary dyskinesia 23
- c.2098-186del Single submitter
- c.2098-6G>A Single submitter primary ciliary dyskinesia 23
- c.2098-7C>G Single submitter primary ciliary dyskinesia 23
- c.2098-7C>T Single submitter primary ciliary dyskinesia 23
- c.2098-8T>C Single submitter primary ciliary dyskinesia 23
- c.225-15A>G Single submitter primary ciliary dyskinesia 23
- c.225-16T>C Single submitter primary ciliary dyskinesia 23
- c.2252+11G>T Single submitter primary ciliary dyskinesia 23
- c.2252+18A>G Single submitter primary ciliary dyskinesia 23
- c.2252+18del Single submitter primary ciliary dyskinesia 23
- c.2252+19T>A Single submitter primary ciliary dyskinesia 23
- c.2252+202G>C Single submitter
- c.2252+9A>G Single submitter primary ciliary dyskinesia 23
- c.2253-12T>C Single submitter primary ciliary dyskinesia 23
- c.2253-14dup Single submitter primary ciliary dyskinesia 23
- c.2495+225C>T Single submitter
- c.2495+243A>G Single submitter
- c.2496-112del Single submitter
- c.2496-15T>C Single submitter primary ciliary dyskinesia 23
- c.2496-15T>G Single submitter primary ciliary dyskinesia 23
- c.2496-18T>A Single submitter primary ciliary dyskinesia 23
- c.2496-5G>A Single submitter primary ciliary dyskinesia 23
- c.2610+19T>C Single submitter primary ciliary dyskinesia 23
- c.2610+8C>T Single submitter primary ciliary dyskinesia 23
- c.2610+9G>A Single submitter primary ciliary dyskinesia 23
- c.2611-5T>C Single submitter primary ciliary dyskinesia 23
- c.2799+10A>G Single submitter primary ciliary dyskinesia 23
- c.2799+293A>T Single submitter
- c.2799+8A>G Single submitter primary ciliary dyskinesia 23
- c.2800-10C>T Single submitter primary ciliary dyskinesia 23
- c.3021+18T>C Single submitter primary ciliary dyskinesia 23
- c.3021+7303C>T Single submitter
- c.3022-21_3022-19del Single submitter primary ciliary dyskinesia 23
- c.3022-9G>A Single submitter primary ciliary dyskinesia 23
- c.382+13C>T Single submitter primary ciliary dyskinesia 23
- c.382+14T>C Single submitter primary ciliary dyskinesia 23
- c.382+17A>C Single submitter primary ciliary dyskinesia 23
- c.382+7T>C Single submitter primary ciliary dyskinesia 23
- c.383-14T>C Single submitter primary ciliary dyskinesia 23
- c.383-5G>T Single submitter primary ciliary dyskinesia 23
- c.383-64_383-63insAATTA Single submitter
- c.383-9T>A Single submitter primary ciliary dyskinesia 23
- c.575+8T>G Single submitter primary ciliary dyskinesia 23
- c.576-143T>G Single submitter
- c.576-291G>A Single submitter
- c.682+18G>A Single submitter primary ciliary dyskinesia 23
- c.682+18G>C Single submitter primary ciliary dyskinesia 23
- c.819+15A>G Single submitter primary ciliary dyskinesia 23
- c.819+19A>C Single submitter primary ciliary dyskinesia 23
- c.819+20C>T Single submitter primary ciliary dyskinesia 23
- c.819+8A>C Single submitter primary ciliary dyskinesia 23
- c.820-20A>C Single submitter primary ciliary dyskinesia 23
- c.820-6C>T Single submitter primary ciliary dyskinesia 23
- c.820-8T>G Single submitter primary ciliary dyskinesia 23
- c.936+118dup Single submitter
- c.937-7A>G Single submitter primary ciliary dyskinesia 23
- p.Ala14= Single submitter primary ciliary dyskinesia 23
- p.Ala266= Single submitter primary ciliary dyskinesia 23
- p.Ala330= Single submitter primary ciliary dyskinesia 23
- p.Ala472= Single submitter primary ciliary dyskinesia 23
- p.Ala556= Single submitter primary ciliary dyskinesia 23
- p.Ala560= Single submitter primary ciliary dyskinesia 23
- p.Ala602= Single submitter
- p.Ala733= Single submitter primary ciliary dyskinesia 23
- p.Ala734= Single submitter
- p.Ala820= Single submitter primary ciliary dyskinesia 23
- p.Arg349Ser Single submitter primary ciliary dyskinesia
- p.Arg413Trp Single submitter primary ciliary dyskinesia
- p.Arg440= Single submitter primary ciliary dyskinesia
- p.Arg477= Single submitter primary ciliary dyskinesia 23
- p.Arg753= Single submitter
- p.Arg939= Single submitter primary ciliary dyskinesia
- p.Asn152= Single submitter primary ciliary dyskinesia 23
- p.Asn233= Single submitter primary ciliary dyskinesia
- p.Asn354= Single submitter primary ciliary dyskinesia
- p.Asn647= Single submitter primary ciliary dyskinesia 23
- p.Asp160= Single submitter primary ciliary dyskinesia 23
- p.Asp161Gly Single submitter primary ciliary dyskinesia
- p.Asp325= Single submitter primary ciliary dyskinesia 23
- p.Asp604= Single submitter primary ciliary dyskinesia 23
- p.Asp853= Single submitter primary ciliary dyskinesia 23
- p.Cys865= Single submitter primary ciliary dyskinesia 23
- p.Gln106= Single submitter
- p.Gln177= Single submitter primary ciliary dyskinesia
- p.Gln326= Single submitter primary ciliary dyskinesia 23
- p.Gln487= Single submitter primary ciliary dyskinesia 23
- p.Gln768= Single submitter primary ciliary dyskinesia 23
- p.Glu230= Single submitter primary ciliary dyskinesia
- p.Glu368= Single submitter
- p.Glu432= Single submitter primary ciliary dyskinesia 23
- p.Glu434Asp Single submitter primary ciliary dyskinesia
- p.Glu705= Single submitter primary ciliary dyskinesia 23
- p.Glu770= Single submitter primary ciliary dyskinesia 23
- p.Gly155= Single submitter primary ciliary dyskinesia 23
- p.Gly215= Single submitter
- p.Gly234= Single submitter primary ciliary dyskinesia 23
- p.Gly576= Single submitter primary ciliary dyskinesia 23
- p.Gly577= Single submitter primary ciliary dyskinesia 23
- p.Gly797= Single submitter primary ciliary dyskinesia 23
- p.His713= Single submitter primary ciliary dyskinesia 23
- p.Ile101= Single submitter primary ciliary dyskinesia 23
- p.Ile343= Single submitter primary ciliary dyskinesia 23
- p.Ile866= Single submitter primary ciliary dyskinesia 23
- p.Ile886= Single submitter primary ciliary dyskinesia
- p.Leu1008= Single submitter primary ciliary dyskinesia 23
- p.Leu1010= Single submitter primary ciliary dyskinesia 23
- p.Leu110= Single submitter primary ciliary dyskinesia
- p.Leu175= Single submitter primary ciliary dyskinesia 23
- p.Leu187= Single submitter primary ciliary dyskinesia 23
- p.Leu260= Single submitter primary ciliary dyskinesia 23
- p.Leu294= Single submitter primary ciliary dyskinesia 23
- p.Leu371= Single submitter primary ciliary dyskinesia 23
- p.Leu518= Single submitter primary ciliary dyskinesia 23
- p.Leu537= Single submitter primary ciliary dyskinesia
- p.Leu544= Single submitter primary ciliary dyskinesia 23
- p.Leu584= Single submitter primary ciliary dyskinesia 23
- p.Leu599= Single submitter primary ciliary dyskinesia 23
- p.Leu636= Single submitter primary ciliary dyskinesia
- p.Leu649= Single submitter primary ciliary dyskinesia 23
- p.Leu722= Single submitter primary ciliary dyskinesia 23
- p.Leu761= Single submitter primary ciliary dyskinesia 23
- p.Leu885= Single submitter primary ciliary dyskinesia 23
- p.Leu92= Single submitter primary ciliary dyskinesia 23
- p.Leu930= Single submitter primary ciliary dyskinesia 23
- p.Leu942= Single submitter primary ciliary dyskinesia 23
- p.Leu987= Single submitter primary ciliary dyskinesia 23
- p.Lys203= Single submitter primary ciliary dyskinesia 23
- p.Lys214= Single submitter primary ciliary dyskinesia 23
- p.Lys418= Single submitter primary ciliary dyskinesia 23
- p.Lys519= Single submitter primary ciliary dyskinesia
- p.Lys867Glu Single submitter primary ciliary dyskinesia
- p.Lys973= Single submitter primary ciliary dyskinesia 23
- p.Phe959= Single submitter primary ciliary dyskinesia 23
- p.Pro402= Single submitter
- p.Pro448= Single submitter primary ciliary dyskinesia
- p.Pro538= Single submitter primary ciliary dyskinesia 23
- p.Pro718= Single submitter primary ciliary dyskinesia
- p.Pro850= Single submitter primary ciliary dyskinesia
- p.Pro967= Single submitter primary ciliary dyskinesia 23
- p.Ser289= Single submitter primary ciliary dyskinesia 23
- p.Ser302= Single submitter primary ciliary dyskinesia 23
- p.Ser317= Single submitter primary ciliary dyskinesia 23
- p.Ser426= Single submitter primary ciliary dyskinesia 23
- p.Ser444Asn Single submitter primary ciliary dyskinesia
- p.Ser878= Single submitter primary ciliary dyskinesia 23
- p.Thr143= Single submitter primary ciliary dyskinesia 23
- p.Thr259= Single submitter primary ciliary dyskinesia 23
- p.Thr505= Single submitter primary ciliary dyskinesia 23
- p.Thr558= Single submitter primary ciliary dyskinesia 23
- p.Thr643= Single submitter primary ciliary dyskinesia 23
- p.Thr750= Single submitter primary ciliary dyskinesia 23
- p.Tyr460= Single submitter primary ciliary dyskinesia 23
- p.Val1006= Single submitter primary ciliary dyskinesia 23
- p.Val571= Single submitter primary ciliary dyskinesia 23
- p.Val572= Single submitter primary ciliary dyskinesia 23
- p.Val652= Single submitter primary ciliary dyskinesia 23
- p.Val710= Single submitter primary ciliary dyskinesia 23
- p.Val762= Single submitter primary ciliary dyskinesia 23
- p.Val774= Single submitter primary ciliary dyskinesia 23
- p.Val815= Single submitter
- p.Val979= Single submitter primary ciliary dyskinesia 23
- c.1143-5dup No assertion criteria ODAD2-related disorder
- c.820-8dup No assertion criteria ODAD2-related disorder
- c.937-8A>C No assertion criteria ODAD2-related disorder
- p.Asp391= No assertion criteria ODAD2-related disorder
- p.Gly313= No assertion criteria ODAD2-related disorder
Uncertain significance 289
- c.1386+5G>A Multiple submitters primary ciliary dyskinesia 23
- c.682+3T>C Multiple submitters primary ciliary dyskinesia 23
- p.Ala1005Thr Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Ala128Gly Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Ala560Thr Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Ala694Pro Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Ala694Thr Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Ala856Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala966Asp Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Ala994Thr Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Arg109Cys Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Arg340His Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Arg440Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg440His Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Arg570Trp Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Arg609His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg639Gln Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Arg639Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg707Gln Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Arg707Trp Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Arg731Gln Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Arg731Trp Multiple submitters primary ciliary dyskinesia 23
- p.Arg753Gln Multiple submitters ODAD2-related disorder ⚠
- p.Arg753Trp Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Arg836Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg841His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg877His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg948Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg970His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg970Ser Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Arg981Gln Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Arg981Leu Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Arg981Trp Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Asn216Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn978Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp256Asn Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Asp425Asn Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Asp433Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Cys510Tyr Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Cys783Ser Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Cys865Arg Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Gln574Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu230Val Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Glu601Lys Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Glu663Lys Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Glu786Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly257Ser Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Gly267Val Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Gly268Val Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Gly407Arg Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Gly495Asp Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly577Val Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Gly873Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly960Asp Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.His523Tyr Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.His548Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.His622Gln Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.His941Gln Multiple submitters primary ciliary dyskinesia
- p.Ile419Met Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Ile490Val Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Ile517Met Multiple submitters primary ciliary dyskinesia 23
- p.Ile531Ser Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Ile531Val Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Ile539Val Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Ile758Val Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Ile834Thr Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Leu174Pro Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Leu178Phe Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu182Phe Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu397Phe Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Leu641Pro Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Lys145Glu Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Lys392Glu Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Lys642Arg Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Met540Thr Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Pro132Thr Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Pro254Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser370Arg Multiple submitters primary ciliary dyskinesia
- p.Ser947Pro Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Thr143Ala Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Thr623Met Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Thr906Ile Multiple submitters primary ciliary dyskinesia 23
- p.Trp359Arg Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Val532Ile Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Val762Leu Multiple submitters primary ciliary dyskinesia 23
- p.Val803Ala Multiple submitters primary ciliary dyskinesia 23 ⚠
- p.Val854Met Multiple submitters primary ciliary dyskinesia ⚠
- c.1386+4A>G Single submitter primary ciliary dyskinesia 23
- c.1533+6T>C Single submitter primary ciliary dyskinesia 23
- c.2496-13G>A Single submitter primary ciliary dyskinesia 23
- c.2496-3T>C Single submitter primary ciliary dyskinesia 23
- c.2800-3C>G Single submitter primary ciliary dyskinesia 23
- c.575+3G>T Single submitter primary ciliary dyskinesia 23
- c.683-14A>G Single submitter
- c.820-18A>G Single submitter primary ciliary dyskinesia 23
- p.Ala128Thr Single submitter primary ciliary dyskinesia 23 ⚠
- p.Ala472Val Single submitter primary ciliary dyskinesia 23 ⚠
- p.Ala568Glu Single submitter primary ciliary dyskinesia ⚠
- p.Ala568Thr Single submitter primary ciliary dyskinesia 23 ⚠
- p.Ala595Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ala627Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala638Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala671Thr Single submitter primary ciliary dyskinesia 23 ⚠
- p.Ala757Asp Single submitter primary ciliary dyskinesia 23 ⚠
- p.Ala872Asp Single submitter primary ciliary dyskinesia ⚠
- p.Ala899Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala982Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala982Val Single submitter primary ciliary dyskinesia 23 ⚠
- p.Ala994Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg1033Ser Single submitter primary ciliary dyskinesia ⚠
- p.Arg109His Single submitter primary ciliary dyskinesia 23 ⚠
- p.Arg236Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg340Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg413Glu Single submitter primary ciliary dyskinesia
- p.Arg440Ser Single submitter primary ciliary dyskinesia ⚠
- p.Arg491Ser Single submitter primary ciliary dyskinesia ⚠
- p.Arg569Gln Single submitter primary ciliary dyskinesia 23 ⚠
- p.Arg569Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg609Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg629His Single submitter primary ciliary dyskinesia ⚠
- p.Arg666Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg790Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg794Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg794Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg841Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg948His Single submitter primary ciliary dyskinesia ⚠
- p.Arg970Cys Single submitter primary ciliary dyskinesia ⚠
- p.Asn184Ser Single submitter primary ciliary dyskinesia 23 ⚠
- p.Asn216Lys Single submitter primary ciliary dyskinesia 23 ⚠
- p.Asn272Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn724Asp Single submitter primary ciliary dyskinesia ⚠
- p.Asn724Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn868Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn87Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn888Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn936Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn975Asp Single submitter primary ciliary dyskinesia ⚠
- p.Asn975His Single submitter primary ciliary dyskinesia ⚠
- p.Asn996Asp Single submitter primary ciliary dyskinesia 23 ⚠
- p.Asp281Glu Single submitter primary ciliary dyskinesia 23 ⚠
- p.Asp325Gly Single submitter primary ciliary dyskinesia ⚠
- p.Asp433His Single submitter primary ciliary dyskinesia 23 ⚠
- p.Asp835Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp853Glu Single submitter primary ciliary dyskinesia ⚠
- p.Asp871Val Single submitter primary ciliary dyskinesia ⚠
- p.Asp911Tyr Single submitter primary ciliary dyskinesia 23 ⚠
- p.Cys865Gly Single submitter primary ciliary dyskinesia 23 ⚠
- p.Cys950Ser Single submitter ⚠
- p.Gln123Glu Single submitter primary ciliary dyskinesia ⚠
- p.Gln123Lys Single submitter primary ciliary dyskinesia ⚠
- p.Gln177Glu Single submitter primary ciliary dyskinesia 23 ⚠
- p.Gln177Leu Single submitter primary ciliary dyskinesia 23 ⚠
- p.Gln217Pro Single submitter primary ciliary dyskinesia ⚠
- p.Gln326Glu Single submitter primary ciliary dyskinesia 23 ⚠
- p.Gln355Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gln355Glu Single submitter primary ciliary dyskinesia 23 ⚠
- p.Gln596Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gln596His Single submitter primary ciliary dyskinesia ⚠
- p.Gln596Pro Single submitter primary ciliary dyskinesia 23 ⚠
- p.Gln688Arg Single submitter primary ciliary dyskinesia 23 ⚠
- p.Gln699Arg Single submitter ⚠
- p.Gln699Glu Single submitter primary ciliary dyskinesia 23 ⚠
- p.Glu127Lys Single submitter primary ciliary dyskinesia 23 ⚠
- p.Glu164Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu221Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu434Gly Single submitter primary ciliary dyskinesia ⚠
- p.Glu450Gly Single submitter primary ciliary dyskinesia ⚠
- p.Glu497Gly Single submitter primary ciliary dyskinesia ⚠
- p.Glu504Ala Single submitter primary ciliary dyskinesia 23 ⚠
- p.Glu557Lys Single submitter primary ciliary dyskinesia
- p.Glu662Val Single submitter primary ciliary dyskinesia 23
- p.Glu691Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu754Lys Single submitter primary ciliary dyskinesia 23 ⚠
- p.Glu759Val Single submitter primary ciliary dyskinesia 23
- p.Glu829Asp Single submitter primary ciliary dyskinesia 23 ⚠
- p.Glu83del Single submitter primary ciliary dyskinesia 23
- p.Glu896Lys Single submitter primary ciliary dyskinesia ⚠
- p.Gly1004Asp Single submitter primary ciliary dyskinesia ⚠
- p.Gly105Glu Single submitter primary ciliary dyskinesia ⚠
- p.Gly273= Single submitter primary ciliary dyskinesia 23
- p.Gly273Ser Single submitter primary ciliary dyskinesia 23 ⚠
- p.Gly288Val Single submitter ⚠
- p.Gly313Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly535Arg Single submitter primary ciliary dyskinesia 23
- p.Gly536Asp Single submitter primary ciliary dyskinesia 23 ⚠
- p.Gly536Ser Single submitter primary ciliary dyskinesia 23
- p.Gly576Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly633Arg Single submitter primary ciliary dyskinesia 23 ⚠
- p.Gly633Asp Single submitter primary ciliary dyskinesia ⚠
- p.Gly714Ala Single submitter primary ciliary dyskinesia ⚠
- p.Gly714Arg Single submitter primary ciliary dyskinesia 23 ⚠
- p.Gly797Ser Single submitter primary ciliary dyskinesia ⚠
- p.Gly797Val Single submitter
- p.Gly873Glu Single submitter primary ciliary dyskinesia ⚠
- p.Gly88Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly960Ser Single submitter ⚠
- p.His1001Arg Single submitter primary ciliary dyskinesia ⚠
- p.His1001Pro Single submitter primary ciliary dyskinesia 23 ⚠
- p.His181Tyr Single submitter primary ciliary dyskinesia ⚠
- p.His189Tyr Single submitter primary ciliary dyskinesia ⚠
- p.His962Tyr Single submitter primary ciliary dyskinesia ⚠
- p.His980Arg Single submitter ⚠
- p.Ile113Val Single submitter primary ciliary dyskinesia ⚠
- p.Ile149Val Single submitter primary ciliary dyskinesia ⚠
- p.Ile167Met Single submitter primary ciliary dyskinesia 23 ⚠
- p.Ile190Val Single submitter primary ciliary dyskinesia ⚠
- p.Ile262Leu Single submitter primary ciliary dyskinesia 23 ⚠
- p.Ile262Phe Single submitter primary ciliary dyskinesia ⚠
- p.Ile490Phe Single submitter primary ciliary dyskinesia ⚠
- p.Leu110Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu294Phe Single submitter primary ciliary dyskinesia ⚠
- p.Leu518Arg Single submitter primary ciliary dyskinesia 23 ⚠
- p.Leu551Ile Single submitter primary ciliary dyskinesia ⚠
- p.Leu551Pro Single submitter primary ciliary dyskinesia ⚠
- p.Leu584Val Single submitter primary ciliary dyskinesia 23 ⚠
- p.Leu709Phe Single submitter primary ciliary dyskinesia ⚠
- p.Leu709Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu765Pro Single submitter primary ciliary dyskinesia ⚠
- p.Leu805Pro Single submitter primary ciliary dyskinesia 23 ⚠
- p.Leu837Ser Single submitter primary ciliary dyskinesia ⚠
- p.Leu842Ser Single submitter primary ciliary dyskinesia ⚠
- p.Leu915Val Single submitter primary ciliary dyskinesia ⚠
- p.Lys145Asn Single submitter primary ciliary dyskinesia ⚠
- p.Lys176Arg Single submitter primary ciliary dyskinesia 23 ⚠
- p.Lys329Glu Single submitter primary ciliary dyskinesia 23 ⚠
- p.Lys348Ile Single submitter primary ciliary dyskinesia ⚠
- p.Lys396Glu Single submitter primary ciliary dyskinesia 23 ⚠
- p.Lys516Asn Single submitter primary ciliary dyskinesia 23 ⚠
- p.Lys630Glu Single submitter primary ciliary dyskinesia ⚠
- p.Lys680Gln Single submitter primary ciliary dyskinesia 23 ⚠
- p.Lys729Arg Single submitter primary ciliary dyskinesia ⚠
- p.Lys741Ile Single submitter primary ciliary dyskinesia ⚠
- p.Lys86Glu Single submitter primary ciliary dyskinesia 23 ⚠
- p.Lys895del Single submitter
- p.Met1000Arg Single submitter primary ciliary dyskinesia 23 ⚠
- p.Met1000Ile Single submitter primary ciliary dyskinesia
- p.Met1000Thr Single submitter primary ciliary dyskinesia 23 ⚠
- p.Met144Ile Single submitter primary ciliary dyskinesia ⚠
- p.Met199Val Single submitter primary ciliary dyskinesia 23 ⚠
- p.Met309Ile Single submitter primary ciliary dyskinesia 23 ⚠
- p.Met476Arg Single submitter primary ciliary dyskinesia 23 ⚠
- p.Met695Val Single submitter primary ciliary dyskinesia 23 ⚠
- p.Met831Val Single submitter primary ciliary dyskinesia 23 ⚠
- p.Met951Val Single submitter primary ciliary dyskinesia ⚠
- p.Phe93Cys Single submitter primary ciliary dyskinesia ⚠
- p.Phe93Leu Single submitter primary ciliary dyskinesia 23 ⚠
- p.Pro163His Single submitter primary ciliary dyskinesia ⚠
- p.Pro163Leu Single submitter primary ciliary dyskinesia 23 ⚠
- p.Pro331Ala Single submitter primary ciliary dyskinesia 23 ⚠
- p.Pro331Arg Single submitter primary ciliary dyskinesia ⚠
- p.Pro402Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro538Ala Single submitter primary ciliary dyskinesia ⚠
- p.Pro651Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro769Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro801Thr Single submitter primary ciliary dyskinesia ⚠
- p.Pro852Thr Single submitter primary ciliary dyskinesia ⚠
- p.Pro925His Single submitter primary ciliary dyskinesia ⚠
- p.Ser197Arg Single submitter primary ciliary dyskinesia ⚠
- p.Ser212Leu Single submitter primary ciliary dyskinesia ⚠
- p.Ser430Arg Single submitter primary ciliary dyskinesia 23 ⚠
- p.Ser449Ala Single submitter primary ciliary dyskinesia 23 ⚠
- p.Ser617Ile Single submitter primary ciliary dyskinesia 23 ⚠
- p.Ser621Asn Single submitter primary ciliary dyskinesia ⚠
- p.Ser721Asn Single submitter primary ciliary dyskinesia 23 ⚠
- p.Ser81Leu Single submitter primary ciliary dyskinesia 23
- p.Ser878Phe Single submitter primary ciliary dyskinesia ⚠
- p.Ser900Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ser95Cys Single submitter primary ciliary dyskinesia 23 ⚠
- p.Thr296Ile Single submitter primary ciliary dyskinesia ⚠
- p.Thr485Ser Single submitter primary ciliary dyskinesia 23 ⚠
- p.Thr505Ser Single submitter primary ciliary dyskinesia ⚠
- p.Thr592Ile Single submitter primary ciliary dyskinesia ⚠
- p.Thr750Ile Single submitter primary ciliary dyskinesia ⚠
- p.Thr78Ile Single submitter primary ciliary dyskinesia ⚠
- p.Trp844Ser Single submitter primary ciliary dyskinesia ⚠
- p.Tyr284Cys Single submitter primary ciliary dyskinesia ⚠
- p.Tyr600Cys Single submitter primary ciliary dyskinesia ⚠
- p.Val134Gly Single submitter primary ciliary dyskinesia ⚠
- p.Val562Ile Single submitter primary ciliary dyskinesia ⚠
- p.Val582Asp Single submitter primary ciliary dyskinesia 23 ⚠
- p.Val605Met Single submitter primary ciliary dyskinesia 23 ⚠
- p.Val652Ala Single submitter primary ciliary dyskinesia ⚠
- p.Val710Ile Single submitter primary ciliary dyskinesia 23 ⚠
- p.Val815Met Single submitter primary ciliary dyskinesia ⚠
- p.Val84Ala Single submitter primary ciliary dyskinesia ⚠
- p.Val84Asp Single submitter primary ciliary dyskinesia 23 ⚠
- p.Val880Ile Single submitter primary ciliary dyskinesia ⚠
- p.Val887Ala Single submitter primary ciliary dyskinesia 23 ⚠
- p.Asp993fs No assertion criteria primary ciliary dyskinesia 23