RSPH4A — 418 ClinVar variants
All ClinVar germline RSPH4A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 197 flagged for review →
39 Pathogenic · 5 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 23 Conflicting · 17 Benign · 12 Benign/Likely benign · 101 Likely benign · 209 Uncertain significance
Full RSPH4A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 197
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 12
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
RSPH4A p.Ala369Pro
Conflicting
Single submitter
primary ciliary dyskinesia 11
-
RSPH4A p.Asp103Tyr
Conflicting
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Glu701Gln
Conflicting
Single submitter
primary ciliary dyskinesia 11
-
RSPH4A p.Glu712Gly
Conflicting
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Gly361Asp
Conflicting
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Gly361Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Pro195Arg
Conflicting
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Pro664Ser
Conflicting
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Pro96Leu
Conflicting
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Pro99Leu
Conflicting
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Thr114Lys
Conflicting
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Val368Gly
Conflicting
Single submitter
primary ciliary dyskinesia 11
Predictors lean, ClinVar uncertain 138
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
RSPH4A p.Ala171Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Ala196Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Ala398Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Ala416Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Ala493Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 11
-
RSPH4A p.Ala516Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Arg163Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Arg374Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Arg374His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Arg465Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Asn479Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 11
-
RSPH4A p.Asn543Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Asn643Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Asp133Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Gln272Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Gln301Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Gln602His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Gln9Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Glu12Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Glu16Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Glu306Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Glu402Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Gly425Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.His547Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Ile583Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Leu278Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Leu698Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Met261Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Phe268Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Phe505Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Pro87Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Pro90Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Ser188Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Ser422Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Ser81Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Thr138Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Tyr217Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Tyr645Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Tyr657His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Val315Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Ala171Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Ala196Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Ala216Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Ala216Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Ala289Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Ala311Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Ala413Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Ala416Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Ala620Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Ala691Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Ala699Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Ala75Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Ala83Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Arg423Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Arg423Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Arg520Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia 11
- RSPH4A p.Asn148Lys Uncertain significance Single submitter
-
RSPH4A p.Asn169Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Asn187Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Asn603Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Asp103Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Asp165Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Asp269Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Asp346His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Asp579Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Asp581Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Asp680Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Cys161Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Cys434Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia 11
-
RSPH4A p.Gln130Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Gln154Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Glu297Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia 11
-
RSPH4A p.Glu302Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Glu363Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Glu377Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Glu389Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Glu421Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Glu508Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Glu509Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Glu573Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Glu584Asp
Uncertain significance
Single submitter
RSPH4A-related disorder
-
RSPH4A p.Glu600Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Glu685Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Glu709Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Glu709Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Glu89Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Gly199Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Gly328Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Gly394Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Gly72Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.His140Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.His232Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Ile454Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Ile470Met
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Ile563Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Ile595Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Ile604Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Ile621Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Ile646Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Leu192Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Leu271Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Leu278Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Leu341Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Leu591Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Leu615Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 11
-
RSPH4A p.Lys172Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Lys239Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Lys412Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Lys457Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Lys640Met
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Lys68Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Met678Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Phe322Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Pro437Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Pro49Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Pro673Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Pro87Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Pro94Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Pro96Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Ser132Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Ser205Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Ser223Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Ser35Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia 11
- RSPH4A p.Ser481Asn Uncertain significance Single submitter
-
RSPH4A p.Ser522Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Ser626Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Ser671Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Ser91Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Thr149Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Thr345Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Thr69Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 11
-
RSPH4A p.Thr79Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Tyr281Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Tyr645Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Tyr645His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Val545Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Val623Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
- RSPH4A p.Asn627Lys Uncertain significance No assertion criteria
Predictors split 47
The independent predictors disagree with each other — read with care.
-
RSPH4A p.Ala699Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Arg244His
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Arg336Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Arg354Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 11
-
RSPH4A p.Arg354His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Arg556His
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Arg610Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 11
-
RSPH4A p.Arg610Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Arg610Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Asn627His
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Glu511Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Glu569Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Glu674Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Pro445Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Pro445Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Pro606Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Thr334Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Thr69Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Tyr429Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Tyr652Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 12
-
RSPH4A p.Tyr657Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH4A p.Val371Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 11
-
RSPH4A p.Arg244Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
- RSPH4A p.Arg336His Uncertain significance Single submitter
-
RSPH4A p.Arg556Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Glu243Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Glu508Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Glu570Gln
Conflicting
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Glu685Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Glu694Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia 11
-
RSPH4A p.Gly638Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Ile255Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Ile417Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Ile417Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Leu628Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Lys443Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Lys460Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Pro313Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Pro414Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Pro475Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Pro475His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Pro605Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Pro605His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Pro659Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Pro660Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Thr593Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH4A p.Tyr321Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
All RSPH4A variants
Pathogenic 39
- c.921+3_921+6del Multiple submitters primary ciliary dyskinesia
- p.Arg465Ter Multiple submitters primary ciliary dyskinesia
- p.Arg485Ter Multiple submitters primary ciliary dyskinesia
- p.Arg520Ter Multiple submitters primary ciliary dyskinesia 11
- p.Gln144Ter Multiple submitters primary ciliary dyskinesia 11
- p.Gln154Ter Multiple submitters Respiratory ciliopathies including non-CF bronchiectasis
- p.Gln451Ter Multiple submitters RSPH4A-related disorder
- p.Leu592fs Multiple submitters primary ciliary dyskinesia 11
- p.Thr424fs Multiple submitters RSPH4A-related disorder
- c.1917-3_1917del Single submitter primary ciliary dyskinesia
- p.Ala416fs Single submitter primary ciliary dyskinesia
- p.Asp578fs Single submitter primary ciliary dyskinesia
- p.Asp655fs Single submitter primary ciliary dyskinesia 11
- p.Gln109Ter Single submitter primary ciliary dyskinesia
- p.Gln155fs Single submitter primary ciliary dyskinesia
- p.Gln173Ter Single submitter primary ciliary dyskinesia
- p.Gln54Ter Single submitter primary ciliary dyskinesia 11
- p.Gln564Ter Single submitter primary ciliary dyskinesia
- p.Gln618Ter Single submitter primary ciliary dyskinesia
- p.Gln625Ter Single submitter primary ciliary dyskinesia
- p.Glu175fs Single submitter primary ciliary dyskinesia
- p.Glu282Ter Single submitter primary ciliary dyskinesia 11
- p.Glu421Ter Single submitter primary ciliary dyskinesia
- p.Glu570fs Single submitter primary ciliary dyskinesia
- p.Gly464Glu Single submitter primary ciliary dyskinesia
- p.Ile470fs Single submitter primary ciliary dyskinesia
- p.Leu160fs Single submitter primary ciliary dyskinesia
- p.Phe644fs Single submitter primary ciliary dyskinesia
- p.Ser4Ter Single submitter primary ciliary dyskinesia
- p.Thr69fs Single submitter primary ciliary dyskinesia
- p.Trp356Ter Single submitter primary ciliary dyskinesia
- p.Trp441Ter Single submitter primary ciliary dyskinesia
- p.Trp544Ter Single submitter primary ciliary dyskinesia 11
- p.Trp607Ter Single submitter primary ciliary dyskinesia
- p.Tyr230Ter Single submitter primary ciliary dyskinesia
- p.Tyr281Ter Single submitter primary ciliary dyskinesia
- p.Tyr321fs Single submitter
- p.Val116fs Single submitter
- p.Ser223fs No assertion criteria primary ciliary dyskinesia 11
Pathogenic/Likely pathogenic 5
- c.1662+2_1662+5del Multiple submitters primary ciliary dyskinesia
- p.Arg490Ter Multiple submitters primary ciliary dyskinesia
- p.Gln564fs Multiple submitters primary ciliary dyskinesia
- p.Phe338fs Multiple submitters primary ciliary dyskinesia
- p.Ser498fs Multiple submitters primary ciliary dyskinesia
Likely pathogenic 12
- c.1662+2T>C Single submitter primary ciliary dyskinesia
- c.686+1G>A Single submitter primary ciliary dyskinesia
- c.921+2T>C Single submitter primary ciliary dyskinesia
- c.922-1G>A Single submitter primary ciliary dyskinesia
- p.Glu370Ter Single submitter primary ciliary dyskinesia
- p.Glu405Ter Single submitter primary ciliary dyskinesia 11
- p.Lys286fs Single submitter RSPH4A-related disorder
- p.Ser205fs Single submitter primary ciliary dyskinesia 11
- p.Ser613Ter Single submitter primary ciliary dyskinesia
- p.Ser671fs Single submitter primary ciliary dyskinesia
- p.Thr79fs Single submitter RSPH4A-related disorder
- p.Trp607fs Single submitter primary ciliary dyskinesia
Conflicting classifications of pathogenicity 23
- c.1662+15C>T Single submitter primary ciliary dyskinesia 11
- c.1917-4A>G Single submitter primary ciliary dyskinesia
- p.Ala369Pro Single submitter primary ciliary dyskinesia 11 ⚠
- p.Asn310= Single submitter primary ciliary dyskinesia 11
- p.Asn521= Single submitter primary ciliary dyskinesia
- p.Asp103Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Gln625= Single submitter primary ciliary dyskinesia
- p.Glu570Gln Single submitter primary ciliary dyskinesia ⚠
- p.Glu701Gln Single submitter primary ciliary dyskinesia 11 ⚠
- p.Glu712Gly Single submitter primary ciliary dyskinesia ⚠
- p.Gly361Asp Single submitter primary ciliary dyskinesia ⚠
- p.Gly361Val Single submitter primary ciliary dyskinesia ⚠
- p.Gly588= Single submitter primary ciliary dyskinesia 11
- p.Leu237= Single submitter primary ciliary dyskinesia
- p.Lys459= Single submitter primary ciliary dyskinesia
- p.Pro195Arg Single submitter primary ciliary dyskinesia ⚠
- p.Pro664Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro96Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro99Leu Single submitter primary ciliary dyskinesia ⚠
- p.Thr114Lys Single submitter primary ciliary dyskinesia ⚠
- p.Thr658= Single submitter primary ciliary dyskinesia 11
- p.Thr79= Single submitter primary ciliary dyskinesia
- p.Val368Gly Single submitter primary ciliary dyskinesia 11 ⚠
Benign 17
- c.1916+46C>G Multiple submitters
- c.1663-112A>G Single submitter
- c.1798+179A>G Single submitter
- c.1799-92_1799-91del Single submitter
- c.1916+111dup Single submitter
- c.1916+295A>T Single submitter
- c.1916+316_1916+318dup Single submitter
- c.1917-277G>T Single submitter
- c.686+216dup Single submitter
- c.921+231G>T Single submitter
- c.921+52C>T Single submitter
- c.921+96TTGTT[10] Single submitter
- c.921+96TTGTT[7] Single submitter
- c.921+96TTGTT[8] Single submitter
- c.921+96TTGTT[9] Single submitter
- c.*436A>C Single submitter primary ciliary dyskinesia 11
- c.*465T>C Single submitter primary ciliary dyskinesia 11
Benign/Likely benign 12
- c.1798+11G>A Multiple submitters primary ciliary dyskinesia 11
- c.*8A>G Multiple submitters primary ciliary dyskinesia 11
- p.Ala700Val Multiple submitters primary ciliary dyskinesia 11
- p.Arg244His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg556His Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn627His Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu512= Multiple submitters primary ciliary dyskinesia
- p.Leu360Phe Multiple submitters primary ciliary dyskinesia
- p.Leu589Pro Multiple submitters primary ciliary dyskinesia
- p.Lys577= Multiple submitters primary ciliary dyskinesia
- p.Thr149Ser Multiple submitters primary ciliary dyskinesia
- p.Val497Ile Multiple submitters primary ciliary dyskinesia
Likely benign 101
- c.1916+101G>T Multiple submitters
- c.1916+102T>G Multiple submitters
- c.921+37G>C Multiple submitters
- p.Arg164= Multiple submitters primary ciliary dyskinesia
- p.Asp165= Multiple submitters primary ciliary dyskinesia
- p.Asp386= Multiple submitters primary ciliary dyskinesia
- p.Asp578= Multiple submitters primary ciliary dyskinesia
- p.Gln415= Multiple submitters primary ciliary dyskinesia
- p.Glu570= Multiple submitters primary ciliary dyskinesia
- p.His547= Multiple submitters primary ciliary dyskinesia
- p.Leu277= Multiple submitters primary ciliary dyskinesia
- p.Leu698= Multiple submitters primary ciliary dyskinesia
- p.Lys640= Multiple submitters primary ciliary dyskinesia
- p.Pro407= Multiple submitters primary ciliary dyskinesia
- p.Ser225= Multiple submitters primary ciliary dyskinesia
- p.Ser93= Multiple submitters primary ciliary dyskinesia
- c.1662+13C>T Single submitter primary ciliary dyskinesia
- c.1662+50T>C Single submitter
- c.1662+8C>A Single submitter primary ciliary dyskinesia
- c.1663-16C>T Single submitter primary ciliary dyskinesia
- c.1663-226C>T Single submitter
- c.1798+10C>T Single submitter primary ciliary dyskinesia
- c.1798+11G>C Single submitter primary ciliary dyskinesia
- c.1799-10del Single submitter primary ciliary dyskinesia
- c.1799-13_1799-12del Single submitter primary ciliary dyskinesia
- c.1917-15T>G Single submitter primary ciliary dyskinesia
- c.1917-6T>C Single submitter
- c.686+13G>A Single submitter primary ciliary dyskinesia
- c.686+20A>T Single submitter primary ciliary dyskinesia
- c.686+229C>T Single submitter
- c.687-20A>C Single submitter primary ciliary dyskinesia
- c.921+11A>T Single submitter primary ciliary dyskinesia
- c.921+17A>C Single submitter primary ciliary dyskinesia
- c.921+96TTGTT[4] Single submitter
- c.922-16G>A Single submitter primary ciliary dyskinesia
- c.922-18C>T Single submitter primary ciliary dyskinesia
- c.*250G>T Single submitter primary ciliary dyskinesia 11
- c.*491T>C Single submitter primary ciliary dyskinesia 11
- p.Ala270= Single submitter primary ciliary dyskinesia
- p.Ala416= Single submitter primary ciliary dyskinesia
- p.Ala468= Single submitter primary ciliary dyskinesia
- p.Ala516= Single submitter primary ciliary dyskinesia
- p.Ala632= Single submitter primary ciliary dyskinesia
- p.Ala67Val Single submitter primary ciliary dyskinesia
- p.Arg465= Single submitter primary ciliary dyskinesia
- p.Arg520= Single submitter primary ciliary dyskinesia
- p.Asn13= Single submitter
- p.Asn558= Single submitter primary ciliary dyskinesia
- p.Asp185= Single submitter primary ciliary dyskinesia
- p.Gln151= Single submitter primary ciliary dyskinesia
- p.Gln152= Single submitter primary ciliary dyskinesia
- p.Gln155= Single submitter primary ciliary dyskinesia
- p.Gln212= Single submitter
- p.Gln272= Single submitter primary ciliary dyskinesia
- p.Glu253= Single submitter
- p.Glu377= Single submitter primary ciliary dyskinesia
- p.Glu395Asp Single submitter primary ciliary dyskinesia
- p.Glu515= Single submitter primary ciliary dyskinesia
- p.Glu530= Single submitter primary ciliary dyskinesia
- p.Glu584= Single submitter primary ciliary dyskinesia
- p.Glu711= Single submitter primary ciliary dyskinesia
- p.Gly294= Single submitter primary ciliary dyskinesia
- p.Gly518= Single submitter primary ciliary dyskinesia
- p.Gly555= Single submitter
- p.Gly73= Single submitter primary ciliary dyskinesia
- p.His496= Single submitter primary ciliary dyskinesia
- p.Ile470= Single submitter primary ciliary dyskinesia
- p.Ile601= Single submitter primary ciliary dyskinesia
- p.Leu360= Single submitter primary ciliary dyskinesia
- p.Leu362= Single submitter primary ciliary dyskinesia
- p.Leu444= Single submitter primary ciliary dyskinesia
- p.Leu500= Single submitter primary ciliary dyskinesia
- p.Leu97Pro Single submitter primary ciliary dyskinesia
- p.Lys412= Single submitter primary ciliary dyskinesia
- p.Pro125= Single submitter primary ciliary dyskinesia
- p.Pro195= Single submitter primary ciliary dyskinesia
- p.Pro204= Single submitter
- p.Pro279= Single submitter primary ciliary dyskinesia
- p.Pro499= Single submitter primary ciliary dyskinesia
- p.Pro605Thr Single submitter primary ciliary dyskinesia
- p.Pro74= Single submitter primary ciliary dyskinesia
- p.Pro87= Single submitter primary ciliary dyskinesia
- p.Pro94= Single submitter primary ciliary dyskinesia
- p.Ser110= Single submitter primary ciliary dyskinesia
- p.Ser132= Single submitter primary ciliary dyskinesia
- p.Ser522= Single submitter primary ciliary dyskinesia
- p.Ser6= Single submitter primary ciliary dyskinesia
- p.Ser612= Single submitter
- p.Ser91= Single submitter primary ciliary dyskinesia
- p.Thr142= Single submitter primary ciliary dyskinesia
- p.Thr5= Single submitter primary ciliary dyskinesia
- p.Tyr190= Single submitter primary ciliary dyskinesia
- p.Tyr217= Single submitter primary ciliary dyskinesia
- p.Tyr429= Single submitter primary ciliary dyskinesia
- p.Tyr473= Single submitter primary ciliary dyskinesia
- p.Val180= Single submitter primary ciliary dyskinesia
- p.Val299Ala Single submitter primary ciliary dyskinesia
- p.Val327= Single submitter primary ciliary dyskinesia
- p.Val371= Single submitter primary ciliary dyskinesia
- p.Val538= Single submitter
- p.Val85= Single submitter primary ciliary dyskinesia
Uncertain significance 209
- p.Ala171Pro Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala196Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala398Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala416Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala493Glu Multiple submitters primary ciliary dyskinesia 11 ⚠
- p.Ala516Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala699Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg163Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg336Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg354Cys Multiple submitters primary ciliary dyskinesia 11 ⚠
- p.Arg354His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg374Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg374His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg465Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg610Gln Multiple submitters primary ciliary dyskinesia 11 ⚠
- p.Arg610Pro Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg610Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn479Ser Multiple submitters primary ciliary dyskinesia 11 ⚠
- p.Asn543Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn643Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp133Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Gln272Glu Multiple submitters primary ciliary dyskinesia ⚠
- p.Gln301Pro Multiple submitters primary ciliary dyskinesia ⚠
- p.Gln602His Multiple submitters primary ciliary dyskinesia ⚠
- p.Gln9Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu12Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu16Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu306Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu402Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu511Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu569Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu674Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly425Asp Multiple submitters primary ciliary dyskinesia ⚠
- p.His547Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile583Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu278Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu698Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Met261Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Phe268Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Phe505Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro445Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro445Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro606Arg Multiple submitters primary ciliary dyskinesia
- p.Pro606Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro87Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro90Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser188Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser422Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser81Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr138Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr334Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr69Met Multiple submitters primary ciliary dyskinesia ⚠
- p.Tyr217Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Tyr429Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Tyr645Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Tyr652Cys Multiple submitters primary ciliary dyskinesia 12 ⚠
- p.Tyr657Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Tyr657His Multiple submitters primary ciliary dyskinesia ⚠
- p.Val315Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Val371Met Multiple submitters primary ciliary dyskinesia 11 ⚠
- p.Val447Ala Multiple submitters primary ciliary dyskinesia
- c.1916+2dup Single submitter primary ciliary dyskinesia
- c.1916+4_1916+7del Single submitter
- c.1917-2A>C Single submitter primary ciliary dyskinesia
- c.1917-3T>C Single submitter primary ciliary dyskinesia
- c.922-11T>G Single submitter primary ciliary dyskinesia
- c.-88A>G Single submitter primary ciliary dyskinesia 11
- c.*223A>T Single submitter primary ciliary dyskinesia 11
- c.*224C>T Single submitter primary ciliary dyskinesia 11
- c.*277A>G Single submitter primary ciliary dyskinesia 11
- c.*469T>C Single submitter primary ciliary dyskinesia 11
- c.*500G>A Single submitter primary ciliary dyskinesia 11
- c.*64A>C Single submitter primary ciliary dyskinesia 11
- p.Ala171Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala196Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala216Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala216Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala289Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala311Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala413Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala416Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala620Pro Single submitter primary ciliary dyskinesia ⚠
- p.Ala632Thr Single submitter primary ciliary dyskinesia 11
- p.Ala691Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala699Glu Single submitter primary ciliary dyskinesia ⚠
- p.Ala75Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala83Ser Single submitter primary ciliary dyskinesia ⚠
- p.Arg112_Thr113delinsIlePro Single submitter primary ciliary dyskinesia
- p.Arg244Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg336His Single submitter ⚠
- p.Arg423Lys Single submitter primary ciliary dyskinesia ⚠
- p.Arg423Thr Single submitter primary ciliary dyskinesia ⚠
- p.Arg520Gln Single submitter primary ciliary dyskinesia 11 ⚠
- p.Arg556Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg66= Single submitter primary ciliary dyskinesia 11
- p.Asn148Lys Single submitter ⚠
- p.Asn169Asp Single submitter primary ciliary dyskinesia ⚠
- p.Asn187Ile Single submitter primary ciliary dyskinesia ⚠
- p.Asn603Thr Single submitter primary ciliary dyskinesia ⚠
- p.Asp103Val Single submitter primary ciliary dyskinesia ⚠
- p.Asp165Glu Single submitter primary ciliary dyskinesia ⚠
- p.Asp231Gly Single submitter primary ciliary dyskinesia 11
- p.Asp269Ala Single submitter primary ciliary dyskinesia ⚠
- p.Asp346His Single submitter primary ciliary dyskinesia ⚠
- p.Asp536His Single submitter primary ciliary dyskinesia
- p.Asp579Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp581Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp680Val Single submitter primary ciliary dyskinesia ⚠
- p.Cys161Trp Single submitter primary ciliary dyskinesia ⚠
- p.Cys434Tyr Single submitter primary ciliary dyskinesia 11 ⚠
- p.Gln130Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gln154Arg Single submitter primary ciliary dyskinesia ⚠
- p.Glu243Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu297Gln Single submitter primary ciliary dyskinesia 11 ⚠
- p.Glu302Gly Single submitter primary ciliary dyskinesia ⚠
- p.Glu363Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu377Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu389Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu421Gly Single submitter primary ciliary dyskinesia ⚠
- p.Glu508Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu508Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu509Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu573Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu573del Single submitter primary ciliary dyskinesia
- p.Glu584Asp Single submitter RSPH4A-related disorder ⚠
- p.Glu600Ala Single submitter primary ciliary dyskinesia ⚠
- p.Glu685Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu685Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu694Gly Single submitter primary ciliary dyskinesia 11 ⚠
- p.Glu709Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu709Gly Single submitter primary ciliary dyskinesia ⚠
- p.Glu89Gly Single submitter primary ciliary dyskinesia ⚠
- p.Gly199Val Single submitter primary ciliary dyskinesia ⚠
- p.Gly328Asp Single submitter primary ciliary dyskinesia ⚠
- p.Gly394Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly638Ser Single submitter primary ciliary dyskinesia ⚠
- p.Gly72Val Single submitter primary ciliary dyskinesia ⚠
- p.His140Asn Single submitter primary ciliary dyskinesia ⚠
- p.His232Asn Single submitter primary ciliary dyskinesia ⚠
- p.His496Pro Single submitter primary ciliary dyskinesia
- p.Ile255Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ile417Lys Single submitter primary ciliary dyskinesia ⚠
- p.Ile417Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ile454Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ile470Met Single submitter primary ciliary dyskinesia ⚠
- p.Ile563Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ile595Val Single submitter primary ciliary dyskinesia ⚠
- p.Ile604Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ile621Val Single submitter primary ciliary dyskinesia ⚠
- p.Ile646Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu192Ile Single submitter primary ciliary dyskinesia ⚠
- p.Leu271Pro Single submitter primary ciliary dyskinesia ⚠
- p.Leu278Phe Single submitter primary ciliary dyskinesia ⚠
- p.Leu341Phe Single submitter primary ciliary dyskinesia ⚠
- p.Leu591Phe Single submitter primary ciliary dyskinesia ⚠
- p.Leu615Val Single submitter primary ciliary dyskinesia 11 ⚠
- p.Leu628Phe Single submitter primary ciliary dyskinesia ⚠
- p.Lys172Glu Single submitter primary ciliary dyskinesia ⚠
- p.Lys239Arg Single submitter primary ciliary dyskinesia ⚠
- p.Lys412Glu Single submitter primary ciliary dyskinesia ⚠
- p.Lys443Thr Single submitter primary ciliary dyskinesia ⚠
- p.Lys457Arg Single submitter primary ciliary dyskinesia ⚠
- p.Lys459Met Single submitter primary ciliary dyskinesia
- p.Lys460Arg Single submitter primary ciliary dyskinesia ⚠
- p.Lys460Gln Single submitter primary ciliary dyskinesia
- p.Lys640Met Single submitter primary ciliary dyskinesia ⚠
- p.Lys68Arg Single submitter primary ciliary dyskinesia ⚠
- p.Met678Thr Single submitter primary ciliary dyskinesia ⚠
- p.Phe322Ser Single submitter primary ciliary dyskinesia ⚠
- p.Phe462Val Single submitter primary ciliary dyskinesia
- p.Pro313Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro414Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro437Ala Single submitter primary ciliary dyskinesia ⚠
- p.Pro475Arg Single submitter primary ciliary dyskinesia ⚠
- p.Pro475His Single submitter primary ciliary dyskinesia ⚠
- p.Pro49Thr Single submitter primary ciliary dyskinesia ⚠
- p.Pro605Arg Single submitter primary ciliary dyskinesia ⚠
- p.Pro605His Single submitter primary ciliary dyskinesia ⚠
- p.Pro659His Single submitter primary ciliary dyskinesia
- p.Pro659Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro660Gln Single submitter primary ciliary dyskinesia ⚠
- p.Pro673Thr Single submitter primary ciliary dyskinesia ⚠
- p.Pro87Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro94Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro96Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ser132Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ser205Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ser223Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ser35Pro Single submitter primary ciliary dyskinesia 11 ⚠
- p.Ser481Asn Single submitter ⚠
- p.Ser522Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ser626Cys Single submitter primary ciliary dyskinesia ⚠
- p.Ser671Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ser91Cys Single submitter primary ciliary dyskinesia ⚠
- p.Thr149Pro Single submitter primary ciliary dyskinesia ⚠
- p.Thr238Pro Single submitter primary ciliary dyskinesia
- p.Thr345Ala Single submitter primary ciliary dyskinesia ⚠
- p.Thr593Ile Single submitter primary ciliary dyskinesia ⚠
- p.Thr69Arg Single submitter primary ciliary dyskinesia 11 ⚠
- p.Thr79Ile Single submitter primary ciliary dyskinesia ⚠
- p.Tyr281Cys Single submitter primary ciliary dyskinesia ⚠
- p.Tyr321Asn Single submitter primary ciliary dyskinesia ⚠
- p.Tyr335His Single submitter primary ciliary dyskinesia
- p.Tyr645Asp Single submitter primary ciliary dyskinesia ⚠
- p.Tyr645His Single submitter primary ciliary dyskinesia ⚠
- p.Tyr669Ter Single submitter
- p.Val545Ile Single submitter primary ciliary dyskinesia ⚠
- p.Val623Ile Single submitter primary ciliary dyskinesia ⚠
- p.Asn627Lys No assertion criteria ⚠