SPAG1 — 522 ClinVar variants
All ClinVar germline SPAG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 196 flagged for review →
41 Pathogenic · 5 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 20 Conflicting · 40 Benign · 17 Benign/Likely benign · 181 Likely benign · 206 Uncertain significance
Full SPAG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 196
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 17
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SPAG1 p.Ala238Val
Conflicting
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Ala69Thr
Conflicting
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Arg293Gln
Conflicting
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Arg398Gln
Conflicting
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Gly362Ser
Conflicting
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Gly49Asp
Conflicting
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Gly97Asp
Conflicting
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Ile183Val
Conflicting
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Ile583Val
Conflicting
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Leu138Pro
Conflicting
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Lys755Asn
Conflicting
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Met521Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Met839Leu
Conflicting
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Pro436Leu
Conflicting
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Ser905Leu
Conflicting
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Thr409Ser
Conflicting
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Val276Ile
Conflicting
Single submitter
primary ciliary dyskinesia 28
Predictors lean, ClinVar uncertain 154
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 154
-
SPAG1 p.Ala159Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
SPAG1 p.Ala159Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Ala642Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Arg132His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Arg281His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Arg282His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Arg401Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Arg47Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Arg527Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Arg577Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Asn221Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Asn654Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Asp903Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Asp906Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Cys825Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Gln614Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Glu266Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Glu348Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Glu730Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Gly141Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SPAG1 p.Gly383Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Gly689Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.His187Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
SPAG1 p.Ile30Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
SPAG1 p.Ile800Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
SPAG1 p.Leu816Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Leu853Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
SPAG1 p.Lys301Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Lys820Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Lys878Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Met521Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Pro597Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Pro799Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Pro838Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Ser134Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
SPAG1 p.Ser504Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
SPAG1 p.Thr181Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Tyr875His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Val140Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Val761Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Ala209Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
- SPAG1 p.Ala219Pro Uncertain significance Single submitter
-
SPAG1 p.Ala228Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Ala329Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Ala442Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Ala588Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Ala664Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Ala781Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Arg211Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Arg211His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Arg211Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Arg248Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Arg281Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Arg493Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Arg527Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Arg563Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Arg613Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Asn247Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Asn654Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Asn662Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Asn715Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Asn739His
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Asn909Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Asn910His
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Asp304Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Asp349Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Asp35Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Asp688Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Asp742Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Asp742Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Asp794Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Asp821Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
- SPAG1 p.Cys510Phe Uncertain significance Single submitter
-
SPAG1 p.Cys633Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Cys680Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Gln342Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Gln918Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Glu192Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Glu214Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Glu297Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Glu351Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Glu732Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Glu752Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Glu766Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Glu767Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Glu796Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Glu880Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Gly355Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Gly372Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Gly785Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Gly892Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Ile183Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Ile482Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
- SPAG1 p.Ile567Val Uncertain significance Single submitter
-
SPAG1 p.Ile659Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Ile718Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Ile725Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Ile854Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
- SPAG1 p.Ile862Thr Uncertain significance Single submitter
-
SPAG1 p.Ile889Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Ile95Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Ile99Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Leu138Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Leu171Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
- SPAG1 p.Leu43Pro Uncertain significance Single submitter
-
SPAG1 p.Leu486Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Leu534Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
- SPAG1 p.Leu686Pro Uncertain significance Single submitter
-
SPAG1 p.Leu711Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Leu738Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Leu780Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Leu798Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
- SPAG1 p.Leu816Pro Uncertain significance Single submitter
-
SPAG1 p.Leu816Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Leu874Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Leu914Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Lys267Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Lys314Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Lys522Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Lys621Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Lys624Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Lys651Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Lys702Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Lys741Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Lys749Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Lys751Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Lys820Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Lys864Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Met339Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Met521Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Pro379Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Pro722Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Pro746Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Pro803Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Pro80Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Ser326Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Ser504Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Ser560Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Ser788Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Thr284Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
- SPAG1 p.Thr2Ala Uncertain significance Single submitter
-
SPAG1 p.Thr546Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Thr58Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Thr735Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Thr907Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Tyr531His
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Tyr541Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Tyr646His
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Tyr6His
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Tyr807His
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
Predictors split 25
The independent predictors disagree with each other — read with care.
-
SPAG1 p.Arg338Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Gly199Ala
Benign
Multiple submitters
primary ciliary dyskinesia
-
SPAG1 p.Ile652Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Pro587Ser
Benign
Multiple submitters
primary ciliary dyskinesia
-
SPAG1 p.Pro70Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Thr661Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Val45Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 28
-
SPAG1 p.Arg338Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Asp174Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Asp224Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Asp98Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Glu674Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Gly13Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
- SPAG1 p.Gly847Glu Uncertain significance Single submitter
-
SPAG1 p.Ile173Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Ile42Met
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Ile897Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Ile917Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Leu489Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Lys835Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Phe850Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Pro838Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Tyr245Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
-
SPAG1 p.Tyr639Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
SPAG1 p.Tyr870Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 28
All SPAG1 variants
Pathogenic 41
- c.1097-11C>G Multiple submitters primary ciliary dyskinesia 28
- p.Ala374fs Multiple submitters primary ciliary dyskinesia 28
- p.Arg697Ter Multiple submitters primary ciliary dyskinesia 28
- p.Asp848fs Multiple submitters SPAG1-related disorder
- p.Gly372fs Multiple submitters primary ciliary dyskinesia 28
- p.Ile507fs Multiple submitters SPAG1-related disorder
- c.427-1065_630del Single submitter primary ciliary dyskinesia 28
- c.595+1G>A Single submitter primary ciliary dyskinesia 28
- p.Ala676fs Single submitter primary ciliary dyskinesia 28
- p.Arg248Ter Single submitter primary ciliary dyskinesia
- p.Arg338fs Single submitter primary ciliary dyskinesia 28
- p.Arg563fs Single submitter primary ciliary dyskinesia 28
- p.Arg73fs Single submitter primary ciliary dyskinesia
- p.Asn859fs Single submitter primary ciliary dyskinesia 28
- p.Asp713fs Single submitter primary ciliary dyskinesia 28
- p.Gln333Ter Single submitter primary ciliary dyskinesia 28
- p.Gln342Ter Single submitter primary ciliary dyskinesia 28
- p.Gln386Ter Single submitter primary ciliary dyskinesia 28
- p.Gln555Ter Single submitter primary ciliary dyskinesia 28
- p.Glu109fs Single submitter primary ciliary dyskinesia 28
- p.Gly501fs Single submitter primary ciliary dyskinesia 28
- p.Leu740fs Single submitter primary ciliary dyskinesia 28
- p.Lys107Ter Single submitter primary ciliary dyskinesia 28
- p.Lys205fs Single submitter primary ciliary dyskinesia
- p.Lys254fs Single submitter primary ciliary dyskinesia 28
- p.Lys366Ter Single submitter primary ciliary dyskinesia 28
- p.Met529fs Single submitter primary ciliary dyskinesia 28
- p.Phe87fs Single submitter primary ciliary dyskinesia 28
- p.Ser104Ter Single submitter primary ciliary dyskinesia 28
- p.Ser186fs Single submitter primary ciliary dyskinesia 28
- p.Thr546fs Single submitter primary ciliary dyskinesia 28
- p.Thr58fs Single submitter primary ciliary dyskinesia 28
- p.Thr622fs Single submitter primary ciliary dyskinesia 28
- p.Trp102Ter Single submitter primary ciliary dyskinesia 28
- p.Trp595Ter Single submitter primary ciliary dyskinesia 28
- p.Tyr531Ter Single submitter primary ciliary dyskinesia 28
- p.Tyr695_Arg696delinsTer Single submitter primary ciliary dyskinesia 28
- p.Val45fs Single submitter primary ciliary dyskinesia 28
- p.Val734fs Single submitter primary ciliary dyskinesia 28
- p.Glu227Ter No assertion criteria autosomal dominant nocturnal frontal lobe epilepsy 5
- p.Met1Arg No assertion criteria primary ciliary dyskinesia 28
Pathogenic/Likely pathogenic 5
- p.Gln672Ter Multiple submitters SPAG1-related disorder
- p.Lys301fs Multiple submitters primary ciliary dyskinesia
- p.Pro80fs Multiple submitters SPAG1-related disorder
- p.Ser789fs Multiple submitters primary ciliary dyskinesia 28
- p.Thr201fs Multiple submitters SPAG1-related disorder
Likely pathogenic 12
- c.939+1G>A Multiple submitters primary ciliary dyskinesia 28
- c.140+1G>A Single submitter primary ciliary dyskinesia 28
- c.1988+1G>A Single submitter SPAG1-related disorder
- c.2116-1G>T Single submitter primary ciliary dyskinesia 28
- c.2281-1_2281del Single submitter primary ciliary dyskinesia 28
- c.301-2A>G Single submitter primary ciliary dyskinesia
- c.488+1G>A Single submitter primary ciliary dyskinesia 28
- c.702-1G>A Single submitter primary ciliary dyskinesia 28
- p.Ile854fs Single submitter primary ciliary dyskinesia 28
- p.Ser134Ter Single submitter primary ciliary dyskinesia
- p.Ser260Ter Single submitter
- p.Tyr667Ter Single submitter SPAG1-related disorder
Conflicting classifications of pathogenicity 20
- p.Ala238Val Single submitter primary ciliary dyskinesia 28 ⚠
- p.Ala432fs Single submitter primary ciliary dyskinesia 28
- p.Ala69Thr Single submitter primary ciliary dyskinesia 28 ⚠
- p.Arg293Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg398Gln Single submitter primary ciliary dyskinesia 28 ⚠
- p.Asn492= Single submitter primary ciliary dyskinesia 28
- p.Gly355Ter Single submitter SPAG1-related disorder
- p.Gly362Ser Single submitter primary ciliary dyskinesia 28 ⚠
- p.Gly49Asp Single submitter primary ciliary dyskinesia 28 ⚠
- p.Gly97Asp Single submitter primary ciliary dyskinesia 28 ⚠
- p.Ile183Val Single submitter primary ciliary dyskinesia 28 ⚠
- p.Ile583Val Single submitter primary ciliary dyskinesia 28 ⚠
- p.Leu138Pro Single submitter primary ciliary dyskinesia ⚠
- p.Lys755Asn Single submitter primary ciliary dyskinesia 28 ⚠
- p.Met521Val Single submitter primary ciliary dyskinesia ⚠
- p.Met839Leu Single submitter primary ciliary dyskinesia 28 ⚠
- p.Pro436Leu Single submitter primary ciliary dyskinesia 28 ⚠
- p.Ser905Leu Single submitter primary ciliary dyskinesia 28 ⚠
- p.Thr409Ser Single submitter primary ciliary dyskinesia 28 ⚠
- p.Val276Ile Single submitter primary ciliary dyskinesia 28 ⚠
Benign 40
- c.1096+272A>G Multiple submitters
- c.1096+35G>A Multiple submitters
- c.141-276C>T Multiple submitters
- c.141-285C>A Multiple submitters
- c.1435+182C>G Multiple submitters
- c.1436-153G>A Multiple submitters
- c.1536-9C>G Multiple submitters primary ciliary dyskinesia 28
- c.1688+42T>C Multiple submitters primary ciliary dyskinesia 28
- c.1856-37A>G Multiple submitters
- c.427-16G>T Multiple submitters primary ciliary dyskinesia 28
- c.596-32G>A Multiple submitters
- c.-2-81G>A Multiple submitters
- p.Gly199Ala Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly223= Multiple submitters primary ciliary dyskinesia
- p.Pro587Ser Multiple submitters primary ciliary dyskinesia ⚠
- c.140+295C>T Single submitter
- c.1436-3dup Single submitter primary ciliary dyskinesia 28
- c.1536-108G>A Single submitter
- c.1689-289T>G Single submitter
- c.1855+177C>T Single submitter
- c.1856-10dup Single submitter primary ciliary dyskinesia 28
- c.1988+177G>A Single submitter
- c.1988+63_1988+64del Single submitter
- c.2281-169C>T Single submitter
- c.300+204A>G Single submitter
- c.427-11del Single submitter primary ciliary dyskinesia 28
- c.427-297A>G Single submitter
- c.427-3dup Single submitter primary ciliary dyskinesia 28
- c.489-106_489-102del Single submitter
- c.489-96_489-90del Single submitter
- c.701+18G>A Single submitter primary ciliary dyskinesia 28
- c.702-319G>A Single submitter
- c.939+330T>C Single submitter
- c.940-114dup Single submitter
- c.940-165T>G Single submitter
- c.940-185C>T Single submitter
- c.-2-321A>C Single submitter
- c.*219T>C Single submitter
- p.Asn843= Single submitter primary ciliary dyskinesia 28
- p.Glu648Lys Single submitter primary ciliary dyskinesia 28
Benign/Likely benign 17
- c.1097-20C>T Multiple submitters primary ciliary dyskinesia 28
- c.832+9del Multiple submitters primary ciliary dyskinesia 28
- c.833-20T>C Multiple submitters primary ciliary dyskinesia 28
- c.939+13T>C Multiple submitters primary ciliary dyskinesia 28
- p.Ala368Val Multiple submitters primary ciliary dyskinesia 28
- p.Ala528= Multiple submitters primary ciliary dyskinesia 28
- p.Arg293Trp Multiple submitters primary ciliary dyskinesia 28
- p.Asn275= Multiple submitters primary ciliary dyskinesia 28
- p.Glu331Lys Multiple submitters primary ciliary dyskinesia 28
- p.Leu514= Multiple submitters primary ciliary dyskinesia 28
- p.Lys353_Ser354insAsp Multiple submitters primary ciliary dyskinesia 28
- p.Lys353Glu Multiple submitters primary ciliary dyskinesia 28
- p.Met529Thr Multiple submitters primary ciliary dyskinesia 28
- p.Met777Thr Multiple submitters primary ciliary dyskinesia 28
- p.Ser905= Multiple submitters primary ciliary dyskinesia 28
- p.Tyr158= Multiple submitters primary ciliary dyskinesia 28
- p.Val319= Multiple submitters primary ciliary dyskinesia 28
Likely benign 181
- c.1097-11C>T Multiple submitters primary ciliary dyskinesia 28
- c.141-48G>T Multiple submitters
- c.1435+18del Multiple submitters primary ciliary dyskinesia 28
- c.1856-118C>T Multiple submitters
- c.2280+13_2280+16del Multiple submitters primary ciliary dyskinesia 28
- c.2650-20T>G Multiple submitters primary ciliary dyskinesia 28
- c.301-8A>G Multiple submitters primary ciliary dyskinesia 28
- c.939+15T>C Multiple submitters primary ciliary dyskinesia 28
- c.-2-119C>T Multiple submitters
- p.Ala376= Multiple submitters primary ciliary dyskinesia 28
- p.Ala446= Multiple submitters primary ciliary dyskinesia 28
- p.Ala815Val Multiple submitters primary ciliary dyskinesia 28
- p.Arg819= Multiple submitters primary ciliary dyskinesia 28
- p.Asp165= Multiple submitters primary ciliary dyskinesia
- p.Asp224= Multiple submitters primary ciliary dyskinesia 28
- p.Asp641= Multiple submitters primary ciliary dyskinesia
- p.Cys44= Multiple submitters primary ciliary dyskinesia 28
- p.Gln923= Multiple submitters primary ciliary dyskinesia 28
- p.Glu500= Multiple submitters primary ciliary dyskinesia 28
- p.Gly133Asp Multiple submitters primary ciliary dyskinesia 28
- p.Gly216= Multiple submitters primary ciliary dyskinesia 28
- p.Gly361= Multiple submitters primary ciliary dyskinesia 28
- p.His827Tyr Multiple submitters primary ciliary dyskinesia 28
- p.Leu571= Multiple submitters primary ciliary dyskinesia 28
- p.Leu670= Multiple submitters primary ciliary dyskinesia 28
- p.Leu737= Multiple submitters primary ciliary dyskinesia
- p.Lys213= Multiple submitters primary ciliary dyskinesia 28
- p.Pro795= Multiple submitters primary ciliary dyskinesia 28
- p.Pro799= Multiple submitters primary ciliary dyskinesia 28
- p.Ser867= Multiple submitters primary ciliary dyskinesia 28
- p.Thr181= Multiple submitters primary ciliary dyskinesia 28
- p.Thr285= Multiple submitters primary ciliary dyskinesia 28
- p.Thr887= Multiple submitters primary ciliary dyskinesia
- p.Tyr875= Multiple submitters primary ciliary dyskinesia 28
- c.1096+17A>C Single submitter primary ciliary dyskinesia 28
- c.1096+17A>G Single submitter primary ciliary dyskinesia 28
- c.1096+75C>T Single submitter
- c.1096+9T>A Single submitter primary ciliary dyskinesia 28
- c.1097-4A>G Single submitter primary ciliary dyskinesia 28
- c.1097-8C>T Single submitter primary ciliary dyskinesia 28
- c.141-16T>C Single submitter primary ciliary dyskinesia 28
- c.141-207C>T Single submitter
- c.1436-20_1436-16del Single submitter primary ciliary dyskinesia 28
- c.1436-37T>A Single submitter
- c.1535+16T>C Single submitter primary ciliary dyskinesia 28
- c.1535+19G>C Single submitter primary ciliary dyskinesia 28
- c.1536-19A>G Single submitter primary ciliary dyskinesia 28
- c.1688+118G>A Single submitter
- c.1688+11del Single submitter primary ciliary dyskinesia 28
- c.1688+128T>A Single submitter
- c.1688+13A>T Single submitter primary ciliary dyskinesia 28
- c.1688+18G>C Single submitter primary ciliary dyskinesia 28
- c.1688+20T>C Single submitter primary ciliary dyskinesia 28
- c.1689-10T>C Single submitter primary ciliary dyskinesia 28
- c.1855+8dup Single submitter primary ciliary dyskinesia 28
- c.1856-51A>T Single submitter
- c.1856-5C>T Single submitter
- c.1856-7C>A Single submitter primary ciliary dyskinesia 28
- c.1988+11T>G Single submitter primary ciliary dyskinesia 28
- c.1988+14A>T Single submitter primary ciliary dyskinesia 28
- c.1988+170C>T Single submitter
- c.1988+19T>A Single submitter primary ciliary dyskinesia 28
- c.1988+209C>T Single submitter
- c.1989-11C>T Single submitter primary ciliary dyskinesia 28
- c.1989-14T>C Single submitter primary ciliary dyskinesia 28
- c.1989-15A>G Single submitter primary ciliary dyskinesia 28
- c.1989-17C>T Single submitter primary ciliary dyskinesia 28
- c.1989-72C>G Single submitter
- c.2116-102C>A Single submitter
- c.2116-11C>T Single submitter primary ciliary dyskinesia 28
- c.2116-18_2116-17del Single submitter primary ciliary dyskinesia 28
- c.2116-44C>T Single submitter
- c.2116-8A>G Single submitter primary ciliary dyskinesia 28
- c.2280+7G>A Single submitter primary ciliary dyskinesia 28
- c.2281-12T>C Single submitter primary ciliary dyskinesia 28
- c.2281-8T>C Single submitter primary ciliary dyskinesia 28
- c.2649+7G>A Single submitter primary ciliary dyskinesia 28
- c.2650-18T>G Single submitter primary ciliary dyskinesia 28
- c.2650-19T>G Single submitter primary ciliary dyskinesia 28
- c.2650-6T>A Single submitter primary ciliary dyskinesia 28
- c.300+14C>T Single submitter primary ciliary dyskinesia 28
- c.300+303dup Single submitter
- c.301-10C>T Single submitter primary ciliary dyskinesia 28
- c.426+14A>G Single submitter primary ciliary dyskinesia 28
- c.427-11T>C Single submitter primary ciliary dyskinesia 28
- c.427-15A>G Single submitter primary ciliary dyskinesia 28
- c.427-8T>A Single submitter primary ciliary dyskinesia 28
- c.488+13dup Single submitter primary ciliary dyskinesia 28
- c.488+19T>C Single submitter primary ciliary dyskinesia 28
- c.488+9del Single submitter primary ciliary dyskinesia 28
- c.489-7A>G Single submitter primary ciliary dyskinesia 28
- c.489-7A>T Single submitter primary ciliary dyskinesia 28
- c.595+15AAT[2] Single submitter primary ciliary dyskinesia 28
- c.596-12A>T Single submitter primary ciliary dyskinesia 28
- c.596-6T>C Single submitter primary ciliary dyskinesia 28
- c.701+10T>A Single submitter primary ciliary dyskinesia 28
- c.701+11G>A Single submitter primary ciliary dyskinesia 28
- c.701+16T>C Single submitter
- c.701+17T>C Single submitter primary ciliary dyskinesia 28
- c.701+3G>T Single submitter primary ciliary dyskinesia 28
- c.702-15C>T Single submitter primary ciliary dyskinesia 28
- c.832+13A>G Single submitter primary ciliary dyskinesia 28
- c.832+14T>C Single submitter primary ciliary dyskinesia 28
- c.833-15T>C Single submitter primary ciliary dyskinesia 28
- c.939+8T>C Single submitter primary ciliary dyskinesia 28
- c.940-19T>C Single submitter primary ciliary dyskinesia 28
- c.940-7G>A Single submitter primary ciliary dyskinesia 28
- c.-2C>T Single submitter
- c.*124C>G Single submitter
- p.Ala159= Single submitter primary ciliary dyskinesia 28
- p.Ala228= Single submitter
- p.Ala238= Single submitter primary ciliary dyskinesia 28
- p.Ala283= Single submitter primary ciliary dyskinesia 28
- p.Ala373= Single submitter primary ciliary dyskinesia 28
- p.Ala377= Single submitter primary ciliary dyskinesia 28
- p.Ala483= Single submitter
- p.Ala588= Single submitter primary ciliary dyskinesia
- p.Ala625= Single submitter primary ciliary dyskinesia 28
- p.Ala625Thr Single submitter primary ciliary dyskinesia
- p.Ala693= Single submitter primary ciliary dyskinesia 28
- p.Ala772Ser Single submitter primary ciliary dyskinesia
- p.Ala806= Single submitter primary ciliary dyskinesia 28
- p.Ala826= Single submitter primary ciliary dyskinesia 28
- p.Arg321= Single submitter
- p.Arg375= Single submitter primary ciliary dyskinesia 28
- p.Arg613His Single submitter primary ciliary dyskinesia
- p.Arg76= Single submitter primary ciliary dyskinesia 28
- p.Arg922= Single submitter primary ciliary dyskinesia 28
- p.Asn259= Single submitter primary ciliary dyskinesia 28
- p.Asn638= Single submitter primary ciliary dyskinesia 28
- p.Asn690= Single submitter primary ciliary dyskinesia 28
- p.Asn804= Single submitter
- p.Asn910= Single submitter primary ciliary dyskinesia 28
- p.Asp264= Single submitter primary ciliary dyskinesia 28
- p.Asp35= Single submitter primary ciliary dyskinesia 28
- p.Asp96= Single submitter primary ciliary dyskinesia
- p.Cys265= Single submitter primary ciliary dyskinesia 28
- p.Gln536= Single submitter primary ciliary dyskinesia 28
- p.Glu535= Single submitter primary ciliary dyskinesia 28
- p.Glu733= Single submitter primary ciliary dyskinesia 28
- p.Gly274= Single submitter primary ciliary dyskinesia 28
- p.Gly352= Single submitter primary ciliary dyskinesia
- p.Gly438= Single submitter primary ciliary dyskinesia 28
- p.Gly466= Single submitter primary ciliary dyskinesia 28
- p.Gly607= Single submitter primary ciliary dyskinesia 28
- p.Gly630= Single submitter primary ciliary dyskinesia 28
- p.Gly786Asp Single submitter primary ciliary dyskinesia
- p.Ile173= Single submitter primary ciliary dyskinesia 28
- p.Ile385= Single submitter primary ciliary dyskinesia 28
- p.Ile488= Single submitter primary ciliary dyskinesia 28
- p.Ile583= Single submitter primary ciliary dyskinesia 28
- p.Leu292= Single submitter
- p.Leu564= Single submitter primary ciliary dyskinesia 28
- p.Leu816= Single submitter primary ciliary dyskinesia 28
- p.Leu868= Single submitter primary ciliary dyskinesia 28
- p.Leu888= Single submitter
- p.Leu9= Single submitter primary ciliary dyskinesia 28
- p.Lys215= Single submitter primary ciliary dyskinesia 28
- p.Lys820= Single submitter primary ciliary dyskinesia 28
- p.Lys891= Single submitter primary ciliary dyskinesia 28
- p.Met777Ile Single submitter primary ciliary dyskinesia
- p.Phe164= Single submitter
- p.Phe262Leu Single submitter
- p.Pro307= Single submitter primary ciliary dyskinesia 28
- p.Pro746Ser Single submitter primary ciliary dyskinesia
- p.Pro792= Single submitter primary ciliary dyskinesia 28
- p.Pro838= Single submitter primary ciliary dyskinesia 28
- p.Pro866= Single submitter primary ciliary dyskinesia 28
- p.Ser260= Single submitter primary ciliary dyskinesia 28
- p.Ser347= Single submitter primary ciliary dyskinesia 28
- p.Ser610= Single submitter primary ciliary dyskinesia
- p.Ser647= Single submitter primary ciliary dyskinesia 28
- p.Ser86= Single submitter primary ciliary dyskinesia 28
- p.Thr832= Single submitter primary ciliary dyskinesia 28
- p.Thr907= Single submitter primary ciliary dyskinesia 28
- p.Tyr245= Single submitter primary ciliary dyskinesia 28
- p.Tyr286= Single submitter primary ciliary dyskinesia 28
- p.Tyr537= Single submitter primary ciliary dyskinesia 28
- p.Tyr639= Single submitter primary ciliary dyskinesia 28
- p.Val761= Single submitter primary ciliary dyskinesia 28
- p.Leu704= No assertion criteria SPAG1-related disorder
Uncertain significance 206
- p.Ala159Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala159Val Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Ala642Thr Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Arg132His Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Arg281His Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Arg282His Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Arg338Met Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Arg401Gly Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Arg47Ser Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Arg527Trp Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Arg577Gln Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Asn221Ser Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Asn654Asp Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Asn909fs Multiple submitters primary ciliary dyskinesia 28
- p.Asp35Glu Multiple submitters primary ciliary dyskinesia 28
- p.Asp903Asn Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Asp906Gly Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Cys825Arg Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Gln614Pro Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Glu266Asp Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Glu348Lys Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Glu730Ala Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Gly141Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly383Ala Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Gly689Glu Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.His187Pro Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile30Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile652Phe Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Ile800Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu816Phe Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Leu853Phe Multiple submitters primary ciliary dyskinesia ⚠
- p.Lys301Arg Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Lys820Glu Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Lys878Thr Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Met521Thr Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Pro597Leu Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Pro70Ala Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Pro799Leu Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Pro838Leu Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Ser134Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser504Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr181Met Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Thr661Ile Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Tyr695Cys Multiple submitters primary ciliary dyskinesia 28
- p.Tyr875His Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Val140Ala Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Val166Met Multiple submitters primary ciliary dyskinesia 28
- p.Val45Met Multiple submitters primary ciliary dyskinesia 28 ⚠
- p.Val761Leu Multiple submitters primary ciliary dyskinesia 28 ⚠
- c.1096+5A>C Single submitter primary ciliary dyskinesia 28
- c.1436-5T>G Single submitter primary ciliary dyskinesia 28
- c.1536-10_1536-9delinsCG Single submitter primary ciliary dyskinesia 28
- c.1689-5T>C Single submitter primary ciliary dyskinesia
- c.2650-2A>G Single submitter primary ciliary dyskinesia
- c.427-3T>C Single submitter primary ciliary dyskinesia 28
- c.832+5A>G Single submitter primary ciliary dyskinesia 28
- c.*1A>G Single submitter
- p.Ala209Val Single submitter primary ciliary dyskinesia 28 ⚠
- p.Ala219Pro Single submitter ⚠
- p.Ala228Glu Single submitter primary ciliary dyskinesia ⚠
- p.Ala251Gly Single submitter primary ciliary dyskinesia 28
- p.Ala329Ser Single submitter primary ciliary dyskinesia 28 ⚠
- p.Ala442Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala557Thr Single submitter primary ciliary dyskinesia
- p.Ala588Pro Single submitter primary ciliary dyskinesia 28 ⚠
- p.Ala664Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala781Pro Single submitter primary ciliary dyskinesia 28 ⚠
- p.Ala879fs Single submitter primary ciliary dyskinesia 28
- p.Arg211Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg211His Single submitter primary ciliary dyskinesia ⚠
- p.Arg211Ser Single submitter primary ciliary dyskinesia ⚠
- p.Arg248Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg281Cys Single submitter primary ciliary dyskinesia 28 ⚠
- p.Arg338Ser Single submitter primary ciliary dyskinesia ⚠
- p.Arg493Thr Single submitter primary ciliary dyskinesia 28 ⚠
- p.Arg527Gln Single submitter primary ciliary dyskinesia 28 ⚠
- p.Arg563Ser Single submitter primary ciliary dyskinesia ⚠
- p.Arg577Trp Single submitter primary ciliary dyskinesia 28
- p.Arg613Cys Single submitter primary ciliary dyskinesia 28 ⚠
- p.Asn247Ser Single submitter primary ciliary dyskinesia 28 ⚠
- p.Asn654Ser Single submitter primary ciliary dyskinesia 28 ⚠
- p.Asn662Thr Single submitter primary ciliary dyskinesia 28 ⚠
- p.Asn715Ser Single submitter primary ciliary dyskinesia 28 ⚠
- p.Asn739His Single submitter primary ciliary dyskinesia 28 ⚠
- p.Asn909Thr Single submitter primary ciliary dyskinesia ⚠
- p.Asn910His Single submitter primary ciliary dyskinesia 28 ⚠
- p.Asp174Asn Single submitter primary ciliary dyskinesia 28 ⚠
- p.Asp224Tyr Single submitter primary ciliary dyskinesia 28 ⚠
- p.Asp304Gly Single submitter primary ciliary dyskinesia 28 ⚠
- p.Asp349Glu Single submitter primary ciliary dyskinesia 28 ⚠
- p.Asp35Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp485Val Single submitter primary ciliary dyskinesia 28
- p.Asp688Asn Single submitter primary ciliary dyskinesia 28 ⚠
- p.Asp742Asn Single submitter primary ciliary dyskinesia 28 ⚠
- p.Asp742Tyr Single submitter primary ciliary dyskinesia 28 ⚠
- p.Asp794Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp821Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp98Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Cys510Phe Single submitter ⚠
- p.Cys633Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Cys680Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gln342Lys Single submitter primary ciliary dyskinesia ⚠
- p.Gln918Glu Single submitter primary ciliary dyskinesia ⚠
- p.Gln918Ter Single submitter primary ciliary dyskinesia 28
- p.Glu110del Single submitter primary ciliary dyskinesia 28
- p.Glu192Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu214Gln Single submitter primary ciliary dyskinesia ⚠
- p.Glu297Gly Single submitter primary ciliary dyskinesia 28 ⚠
- p.Glu351Gln Single submitter primary ciliary dyskinesia ⚠
- p.Glu674Gly Single submitter primary ciliary dyskinesia 28 ⚠
- p.Glu732Lys Single submitter primary ciliary dyskinesia 28 ⚠
- p.Glu752Asp Single submitter primary ciliary dyskinesia 28 ⚠
- p.Glu766Gly Single submitter primary ciliary dyskinesia 28 ⚠
- p.Glu767Gly Single submitter primary ciliary dyskinesia ⚠
- p.Glu796Lys Single submitter primary ciliary dyskinesia 28 ⚠
- p.Glu880Gln Single submitter primary ciliary dyskinesia ⚠
- p.Gly13Glu Single submitter primary ciliary dyskinesia ⚠
- p.Gly355Arg Single submitter primary ciliary dyskinesia 28 ⚠
- p.Gly372Glu Single submitter primary ciliary dyskinesia 28 ⚠
- p.Gly616= Single submitter primary ciliary dyskinesia 28
- p.Gly785Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly847Glu Single submitter ⚠
- p.Gly892Arg Single submitter primary ciliary dyskinesia ⚠
- p.His612_Gly616del Single submitter
- p.Ile173Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ile183Thr Single submitter primary ciliary dyskinesia 28 ⚠
- p.Ile30Thr Single submitter primary ciliary dyskinesia 28
- p.Ile42Met Single submitter primary ciliary dyskinesia 28 ⚠
- p.Ile482Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ile488Phe Single submitter primary ciliary dyskinesia
- p.Ile567Val Single submitter ⚠
- p.Ile659Leu Single submitter primary ciliary dyskinesia 28 ⚠
- p.Ile718Val Single submitter primary ciliary dyskinesia ⚠
- p.Ile725Thr Single submitter primary ciliary dyskinesia 28 ⚠
- p.Ile854Phe Single submitter primary ciliary dyskinesia ⚠
- p.Ile854Thr Single submitter primary ciliary dyskinesia 28
- p.Ile862Thr Single submitter ⚠
- p.Ile889Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ile897Thr Single submitter primary ciliary dyskinesia 28 ⚠
- p.Ile917Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ile95Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ile99Val Single submitter primary ciliary dyskinesia 28 ⚠
- p.Leu138Phe Single submitter primary ciliary dyskinesia ⚠
- p.Leu171Phe Single submitter primary ciliary dyskinesia 28 ⚠
- p.Leu43Pro Single submitter ⚠
- p.Leu486Ile Single submitter primary ciliary dyskinesia ⚠
- p.Leu489Phe Single submitter primary ciliary dyskinesia 28 ⚠
- p.Leu534Pro Single submitter primary ciliary dyskinesia ⚠
- p.Leu57Ile Single submitter primary ciliary dyskinesia
- p.Leu686Pro Single submitter ⚠
- p.Leu711Phe Single submitter primary ciliary dyskinesia 28 ⚠
- p.Leu738Ile Single submitter primary ciliary dyskinesia 28 ⚠
- p.Leu780Pro Single submitter primary ciliary dyskinesia 28 ⚠
- p.Leu798Phe Single submitter primary ciliary dyskinesia 28 ⚠
- p.Leu816Pro Single submitter ⚠
- p.Leu816Val Single submitter primary ciliary dyskinesia 28 ⚠
- p.Leu845Val Single submitter primary ciliary dyskinesia 28
- p.Leu874Ile Single submitter primary ciliary dyskinesia ⚠
- p.Leu914Ser Single submitter primary ciliary dyskinesia ⚠
- p.Lys153_Thr154insArgProThrLysLysLys Single submitter primary ciliary dyskinesia 28
- p.Lys267Asn Single submitter primary ciliary dyskinesia 28 ⚠
- p.Lys314Glu Single submitter primary ciliary dyskinesia ⚠
- p.Lys353delinsGluAsp Single submitter primary ciliary dyskinesia
- p.Lys522Thr Single submitter primary ciliary dyskinesia 28 ⚠
- p.Lys621Asn Single submitter primary ciliary dyskinesia ⚠
- p.Lys624Glu Single submitter primary ciliary dyskinesia ⚠
- p.Lys651Gln Single submitter primary ciliary dyskinesia 28 ⚠
- p.Lys702Glu Single submitter primary ciliary dyskinesia 28 ⚠
- p.Lys741Thr Single submitter primary ciliary dyskinesia 28 ⚠
- p.Lys749Thr Single submitter primary ciliary dyskinesia ⚠
- p.Lys751Arg Single submitter primary ciliary dyskinesia 28 ⚠
- p.Lys820Thr Single submitter primary ciliary dyskinesia ⚠
- p.Lys835Asn Single submitter primary ciliary dyskinesia 28 ⚠
- p.Lys864Arg Single submitter primary ciliary dyskinesia ⚠
- p.Met339Ile Single submitter primary ciliary dyskinesia 28 ⚠
- p.Met521Arg Single submitter primary ciliary dyskinesia 28 ⚠
- p.Phe850Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro379Gln Single submitter primary ciliary dyskinesia ⚠
- p.Pro722Ala Single submitter primary ciliary dyskinesia ⚠
- p.Pro746Ala Single submitter primary ciliary dyskinesia ⚠
- p.Pro803Ser Single submitter primary ciliary dyskinesia 28 ⚠
- p.Pro80Leu Single submitter primary ciliary dyskinesia 28 ⚠
- p.Pro838Ser Single submitter primary ciliary dyskinesia 28 ⚠
- p.Ser326Phe Single submitter primary ciliary dyskinesia 28 ⚠
- p.Ser504Arg Single submitter primary ciliary dyskinesia ⚠
- p.Ser560Asn Single submitter primary ciliary dyskinesia 28 ⚠
- p.Ser788Arg Single submitter primary ciliary dyskinesia 28 ⚠
- p.Thr284Ile Single submitter primary ciliary dyskinesia ⚠
- p.Thr2Ala Single submitter ⚠
- p.Thr546Ala Single submitter primary ciliary dyskinesia ⚠
- p.Thr58Lys Single submitter primary ciliary dyskinesia ⚠
- p.Thr735Ile Single submitter primary ciliary dyskinesia 28 ⚠
- p.Thr907Ile Single submitter primary ciliary dyskinesia 28 ⚠
- p.Tyr245Cys Single submitter primary ciliary dyskinesia 28 ⚠
- p.Tyr531His Single submitter primary ciliary dyskinesia 28 ⚠
- p.Tyr541Asp Single submitter primary ciliary dyskinesia ⚠
- p.Tyr639Cys Single submitter primary ciliary dyskinesia ⚠
- p.Tyr646His Single submitter primary ciliary dyskinesia 28 ⚠
- p.Tyr6His Single submitter primary ciliary dyskinesia 28 ⚠
- p.Tyr807Cys Single submitter primary ciliary dyskinesia
- p.Tyr807His Single submitter primary ciliary dyskinesia 28 ⚠
- p.Tyr870Ser Single submitter primary ciliary dyskinesia 28 ⚠
- p.Tyr924Cys Single submitter primary ciliary dyskinesia ⚠
- p.Val182Ile Single submitter primary ciliary dyskinesia ⚠
- p.Val242Leu Single submitter primary ciliary dyskinesia ⚠
- p.Val268Ile No assertion criteria SPAG1-related disorder ⚠