CCNO — 257 ClinVar variants
All ClinVar germline CCNO variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 113 flagged for review →
24 Pathogenic · 2 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 2 Conflicting · 8 Benign · 3 Benign/Likely benign · 93 Likely benign · 116 Uncertain significance
Full CCNO gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 113
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CCNO p.Asp69Gly
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 68
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CCNO p.Ala14Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCNO p.Ala230Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCNO p.Asn21Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCNO p.Asp94Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCNO p.Cys155Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCNO p.Gly229Ser
Uncertain significance
Multiple submitters
CCNO-related disorder
-
CCNO p.Gly70Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCNO p.His242Tyr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCNO p.Ile326Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCNO p.Leu203Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCNO p.Leu282Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCNO p.Phe164Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 29
-
CCNO p.Pro6Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCNO p.Pro89Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 29
-
CCNO p.Pro9Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCNO p.Ser138Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCNO p.Ser32Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCNO p.Ser63Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCNO p.Ala123Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 29
-
CCNO p.Ala186Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 29
-
CCNO p.Ala260Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Ala274Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Ala284Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Ala284Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Ala289Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Ala76Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Ala87Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Ala91Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Arg133Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
- CCNO p.Arg163Gly Uncertain significance Single submitter
-
CCNO p.Arg163Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Arg18Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Asp20His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Asp315Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Asp94His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Gln338Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Glu191Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Glu62Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Glu62Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Gly102Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Gly85Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.His333Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.His44Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.His44Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Leu161Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Leu203Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Leu37Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Lys135Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Lys342Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Lys40Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Lys40Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Met317Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Pro347Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Pro347Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Pro45Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Pro86Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Pro89Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Ser153Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
- CCNO p.Ser269Arg Uncertain significance Single submitter
-
CCNO p.Ser328Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Ser330Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Ser66Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Thr329Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Thr332Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Thr7Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Tyr101His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Tyr106Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Val265Leu
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 44
The independent predictors disagree with each other — read with care.
-
CCNO p.Ala202Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCNO p.Ala258Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCNO p.Arg124Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCNO p.Arg124Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
CCNO p.Arg196Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCNO p.Arg263Pro
Uncertain significance
Multiple submitters
CCNO-related disorder
-
CCNO p.Arg263Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCNO p.Leu270Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCNO p.Lys110Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCNO p.Pro336Leu
Likely benign
Multiple submitters
primary ciliary dyskinesia
-
CCNO p.Ser63Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCNO p.Ala121Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Ala207Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Ala247Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Ala262Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Ala262Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Arg299Trp
Benign
Single submitter
primary ciliary dyskinesia
-
CCNO p.Arg36His
Likely benign
Single submitter
primary ciliary dyskinesia
-
CCNO p.Asp173Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Asp54Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Cys134Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Cys205Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Cys343Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Gln259Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Glu267Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Gly56Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.His239Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia 29
-
CCNO p.Ile141Met
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Leu149Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Leu149Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Leu290Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Lys188Arg
Likely pathogenic
Single submitter
primary ciliary dyskinesia
-
CCNO p.Met317Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Pro126Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Pro194Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Pro280Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Pro45His
Conflicting
Single submitter
primary ciliary dyskinesia 29
-
CCNO p.Ser104Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Ser73Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Ser75Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Thr7Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCNO p.Val192Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Val197Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
CCNO p.Val265Met
Uncertain significance
Single submitter
Inborn genetic diseases
All CCNO variants
Pathogenic 24
- p.Gln103Ter Multiple submitters primary ciliary dyskinesia 29
- p.Gln88fs Multiple submitters primary ciliary dyskinesia 29
- p.Gly85fs Multiple submitters primary ciliary dyskinesia 29
- p.Val90fs Multiple submitters primary ciliary dyskinesia 29
- p.Ala207fs Single submitter primary ciliary dyskinesia
- p.Arg304fs Single submitter primary ciliary dyskinesia
- p.Asn159fs Single submitter primary ciliary dyskinesia
- p.Asp292fs Single submitter primary ciliary dyskinesia
- p.Gln127Ter Single submitter primary ciliary dyskinesia 29
- p.Gln249fs Single submitter primary ciliary dyskinesia
- p.Gln259Ter Single submitter primary ciliary dyskinesia
- p.Gly56fs Single submitter primary ciliary dyskinesia
- p.Leu161fs Single submitter primary ciliary dyskinesia
- p.Leu213Pro Single submitter primary ciliary dyskinesia
- p.Leu303fs Single submitter primary ciliary dyskinesia 29
- p.Lys110fs Single submitter primary ciliary dyskinesia
- p.Phe208fs Single submitter primary ciliary dyskinesia
- p.Pro142fs Single submitter primary ciliary dyskinesia 29
- p.Pro84fs Single submitter primary ciliary dyskinesia
- p.Ser65fs Single submitter primary ciliary dyskinesia
- p.Ser68Ter Single submitter primary ciliary dyskinesia
- p.Tyr101fs Single submitter primary ciliary dyskinesia
- p.Val265fs Single submitter primary ciliary dyskinesia
- p.Pro309fs No assertion criteria primary ciliary dyskinesia 29
Pathogenic/Likely pathogenic 2
- p.Val143fs Multiple submitters primary ciliary dyskinesia 29
- p.Val180fs Multiple submitters primary ciliary dyskinesia
Likely pathogenic 9
- c.382-1G>T Single submitter primary ciliary dyskinesia
- c.564_567+1delinsTCATCGCTTGCATCGCTTGCATCGCTTGCATCGC Single submitter primary ciliary dyskinesia 29
- p.Cys5fs Single submitter primary ciliary dyskinesia 29
- p.Gln321Ter Single submitter primary ciliary dyskinesia
- p.Ile185fs Single submitter primary ciliary dyskinesia
- p.Leu183Ter Single submitter primary ciliary dyskinesia 29
- p.Lys188Arg Single submitter primary ciliary dyskinesia ⚠
- p.Val143delinsLeuTer Single submitter primary ciliary dyskinesia 29
- p.Leu322fs No assertion criteria primary ciliary dyskinesia 29
Conflicting classifications of pathogenicity 2
- p.Asp69Gly Single submitter Inborn genetic diseases ⚠
- p.Pro45His Single submitter primary ciliary dyskinesia 29 ⚠
Benign 8
- c.382-14C>G Multiple submitters primary ciliary dyskinesia
- c.382-19C>G Multiple submitters primary ciliary dyskinesia
- c.382-216C>T Multiple submitters
- c.-65G>T Multiple submitters
- p.Gly264Arg Multiple submitters primary ciliary dyskinesia
- c.568-194dup Single submitter
- p.Arg299Trp Single submitter primary ciliary dyskinesia ⚠
- p.Pro118= Single submitter primary ciliary dyskinesia
Benign/Likely benign 3
- p.Ala260= Multiple submitters primary ciliary dyskinesia
- p.Glu314Lys Multiple submitters primary ciliary dyskinesia
- p.Lys319= Multiple submitters primary ciliary dyskinesia 29
Likely benign 93
- c.*223A>G Multiple submitters
- p.Met334Ile Multiple submitters primary ciliary dyskinesia
- p.Pro336Leu Multiple submitters primary ciliary dyskinesia ⚠
- c.381+18C>G Single submitter primary ciliary dyskinesia
- c.381+19C>T Single submitter primary ciliary dyskinesia
- c.381+66C>T Single submitter
- c.382-12C>G Single submitter primary ciliary dyskinesia
- c.382-14C>A Single submitter primary ciliary dyskinesia
- c.382-14C>T Single submitter primary ciliary dyskinesia
- c.382-15C>G Single submitter primary ciliary dyskinesia
- c.382-17C>T Single submitter primary ciliary dyskinesia
- c.382-43A>T Single submitter
- c.382-4G>A Single submitter primary ciliary dyskinesia
- c.382-5G>T Single submitter primary ciliary dyskinesia
- c.382-7C>T Single submitter primary ciliary dyskinesia
- c.382-8C>T Single submitter primary ciliary dyskinesia
- c.567+10G>A Single submitter primary ciliary dyskinesia
- c.567+16A>G Single submitter primary ciliary dyskinesia
- c.567+9G>A Single submitter primary ciliary dyskinesia
- c.568-16del Single submitter primary ciliary dyskinesia
- c.568-4G>C Single submitter primary ciliary dyskinesia
- c.568-9G>T Single submitter primary ciliary dyskinesia
- c.*52C>G Single submitter
- p.Ala111= Single submitter primary ciliary dyskinesia
- p.Ala77= Single submitter primary ciliary dyskinesia
- p.Arg109= Single submitter primary ciliary dyskinesia
- p.Arg145= Single submitter primary ciliary dyskinesia
- p.Arg210= Single submitter primary ciliary dyskinesia
- p.Arg263= Single submitter primary ciliary dyskinesia
- p.Arg296Gln Single submitter primary ciliary dyskinesia
- p.Arg36His Single submitter primary ciliary dyskinesia ⚠
- p.Arg38= Single submitter primary ciliary dyskinesia
- p.Asn47= Single submitter
- p.Asp22= Single submitter primary ciliary dyskinesia
- p.Cys105= Single submitter primary ciliary dyskinesia
- p.Gln112= Single submitter primary ciliary dyskinesia
- p.Gln146= Single submitter primary ciliary dyskinesia
- p.Gln176= Single submitter primary ciliary dyskinesia
- p.Gln88His Single submitter primary ciliary dyskinesia
- p.Gln96= Single submitter
- p.Gly148= Single submitter primary ciliary dyskinesia
- p.Gly70= Single submitter primary ciliary dyskinesia
- p.Gly85= Single submitter primary ciliary dyskinesia
- p.His117= Single submitter primary ciliary dyskinesia
- p.His193= Single submitter primary ciliary dyskinesia
- p.His222= Single submitter primary ciliary dyskinesia
- p.His333= Single submitter primary ciliary dyskinesia
- p.Ile339= Single submitter primary ciliary dyskinesia
- p.Ile57Val Single submitter Inborn genetic diseases
- p.Leu154= Single submitter primary ciliary dyskinesia
- p.Leu221= Single submitter primary ciliary dyskinesia
- p.Leu282= Single submitter primary ciliary dyskinesia
- p.Leu37= Single submitter primary ciliary dyskinesia
- p.Leu51= Single submitter primary ciliary dyskinesia
- p.Leu83= Single submitter primary ciliary dyskinesia
- p.Leu95= Single submitter primary ciliary dyskinesia
- p.Lys135= Single submitter primary ciliary dyskinesia
- p.Lys31= Single submitter primary ciliary dyskinesia
- p.Lys40= Single submitter primary ciliary dyskinesia
- p.Phe151= Single submitter primary ciliary dyskinesia
- p.Phe175= Single submitter primary ciliary dyskinesia
- p.Phe208= Single submitter primary ciliary dyskinesia
- p.Phe235= Single submitter primary ciliary dyskinesia
- p.Phe61= Single submitter primary ciliary dyskinesia
- p.Pro12= Single submitter primary ciliary dyskinesia
- p.Pro142= Single submitter primary ciliary dyskinesia
- p.Pro194= Single submitter primary ciliary dyskinesia
- p.Pro231= Single submitter primary ciliary dyskinesia
- p.Pro28= Single submitter primary ciliary dyskinesia
- p.Pro280= Single submitter primary ciliary dyskinesia
- p.Pro42= Single submitter primary ciliary dyskinesia
- p.Pro45= Single submitter primary ciliary dyskinesia
- p.Pro52= Single submitter primary ciliary dyskinesia
- p.Pro6= Single submitter primary ciliary dyskinesia
- p.Pro82= Single submitter primary ciliary dyskinesia
- p.Pro86= Single submitter primary ciliary dyskinesia
- p.Pro89= Single submitter primary ciliary dyskinesia
- p.Ser10= Single submitter primary ciliary dyskinesia
- p.Ser114= Single submitter primary ciliary dyskinesia
- p.Ser277= Single submitter primary ciliary dyskinesia
- p.Ser279= Single submitter primary ciliary dyskinesia
- p.Ser281= Single submitter primary ciliary dyskinesia
- p.Ser328Gly Single submitter Inborn genetic diseases
- p.Ser349= Single submitter primary ciliary dyskinesia
- p.Ser55= Single submitter primary ciliary dyskinesia
- p.Ser66= Single submitter primary ciliary dyskinesia
- p.Ser73= Single submitter primary ciliary dyskinesia
- p.Thr157= Single submitter primary ciliary dyskinesia
- p.Thr241= Single submitter primary ciliary dyskinesia
- p.Thr276= Single submitter primary ciliary dyskinesia
- p.Thr3= Single submitter primary ciliary dyskinesia
- p.Thr332= Single submitter primary ciliary dyskinesia
- p.Val220= Single submitter primary ciliary dyskinesia
Uncertain significance 116
- p.Ala14Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala202Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala230Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala258Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg124Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg124Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg196Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg263Pro Multiple submitters CCNO-related disorder ⚠
- p.Arg263Trp Multiple submitters Inborn genetic diseases ⚠
- p.Asn21Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp94Gly Multiple submitters Inborn genetic diseases ⚠
- p.Cys155Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly229Ser Multiple submitters CCNO-related disorder ⚠
- p.Gly70Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.His242Tyr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile326Met Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu203Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu270Met Multiple submitters Inborn genetic diseases ⚠
- p.Leu282Pro Multiple submitters primary ciliary dyskinesia ⚠
- p.Lys110Asn Multiple submitters Inborn genetic diseases ⚠
- p.Phe164Ser Multiple submitters primary ciliary dyskinesia 29 ⚠
- p.Pro6Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro89Ala Multiple submitters primary ciliary dyskinesia 29 ⚠
- p.Pro9Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser138Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser32Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser63Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ser63Tyr Multiple submitters Inborn genetic diseases ⚠
- c.381+10T>G Single submitter primary ciliary dyskinesia 29
- c.381+3G>A Single submitter primary ciliary dyskinesia
- c.381+5G>A Single submitter primary ciliary dyskinesia 29
- c.381+8G>A Single submitter primary ciliary dyskinesia
- c.568-1G>A Single submitter primary ciliary dyskinesia
- p.Ala121Thr Single submitter Inborn genetic diseases ⚠
- p.Ala123Val Single submitter primary ciliary dyskinesia 29 ⚠
- p.Ala186Thr Single submitter primary ciliary dyskinesia 29 ⚠
- p.Ala207Pro Single submitter Inborn genetic diseases ⚠
- p.Ala247Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala260Ser Single submitter Inborn genetic diseases ⚠
- p.Ala262Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ala262Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala274Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala284Glu Single submitter primary ciliary dyskinesia ⚠
- p.Ala284Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala289Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala76Thr Single submitter Inborn genetic diseases ⚠
- p.Ala87Val Single submitter Inborn genetic diseases ⚠
- p.Ala91Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg133Leu Single submitter primary ciliary dyskinesia ⚠
- p.Arg163Gly Single submitter ⚠
- p.Arg163Leu Single submitter primary ciliary dyskinesia ⚠
- p.Arg18_Arg19delinsSerTrp Single submitter primary ciliary dyskinesia
- p.Arg18Ser Single submitter Inborn genetic diseases ⚠
- p.Asp173Glu Single submitter primary ciliary dyskinesia ⚠
- p.Asp20His Single submitter primary ciliary dyskinesia ⚠
- p.Asp315Glu Single submitter primary ciliary dyskinesia ⚠
- p.Asp54Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp94His Single submitter Inborn genetic diseases ⚠
- p.Cys134Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Cys205Trp Single submitter Inborn genetic diseases ⚠
- p.Cys343Arg Single submitter Inborn genetic diseases ⚠
- p.Gln259Pro Single submitter Inborn genetic diseases ⚠
- p.Gln338Glu Single submitter primary ciliary dyskinesia ⚠
- p.Glu191Val Single submitter primary ciliary dyskinesia ⚠
- p.Glu238_His239delinsAspAsp Single submitter primary ciliary dyskinesia 29
- p.Glu267Gly Single submitter primary ciliary dyskinesia ⚠
- p.Glu62Gln Single submitter Inborn genetic diseases ⚠
- p.Glu62Gly Single submitter primary ciliary dyskinesia ⚠
- p.Gly102Ala Single submitter Inborn genetic diseases ⚠
- p.Gly56Ser Single submitter primary ciliary dyskinesia ⚠
- p.Gly85Cys Single submitter Inborn genetic diseases ⚠
- p.His225_Phe226insLysLeuHis Single submitter primary ciliary dyskinesia
- p.His239Asp Single submitter primary ciliary dyskinesia 29 ⚠
- p.His333Tyr Single submitter primary ciliary dyskinesia ⚠
- p.His44Arg Single submitter Inborn genetic diseases ⚠
- p.His44Gln Single submitter primary ciliary dyskinesia ⚠
- p.Ile141Met Single submitter primary ciliary dyskinesia ⚠
- p.Leu149Ile Single submitter primary ciliary dyskinesia ⚠
- p.Leu149Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu161Pro Single submitter primary ciliary dyskinesia ⚠
- p.Leu203Ile Single submitter Inborn genetic diseases ⚠
- p.Leu290Gln Single submitter Inborn genetic diseases ⚠
- p.Leu37Pro Single submitter Inborn genetic diseases ⚠
- p.Leu83_Ala87dup Single submitter primary ciliary dyskinesia
- p.Lys135Glu Single submitter Inborn genetic diseases ⚠
- p.Lys342Arg Single submitter Inborn genetic diseases ⚠
- p.Lys40Gln Single submitter Inborn genetic diseases ⚠
- p.Lys40Glu Single submitter Inborn genetic diseases ⚠
- p.Met317Leu Single submitter primary ciliary dyskinesia ⚠
- p.Met317Thr Single submitter Inborn genetic diseases ⚠
- p.Pro126Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro194Leu Single submitter Inborn genetic diseases ⚠
- p.Pro280Ala Single submitter primary ciliary dyskinesia ⚠
- p.Pro347Arg Single submitter Inborn genetic diseases ⚠
- p.Pro347Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro45Ala Single submitter Inborn genetic diseases ⚠
- p.Pro86Leu Single submitter Inborn genetic diseases ⚠
- p.Pro89Leu Single submitter Inborn genetic diseases ⚠
- p.Ser104Arg Single submitter primary ciliary dyskinesia ⚠
- p.Ser153Pro Single submitter primary ciliary dyskinesia ⚠
- p.Ser269Arg Single submitter ⚠
- p.Ser328Arg Single submitter Inborn genetic diseases ⚠
- p.Ser330Phe Single submitter primary ciliary dyskinesia ⚠
- p.Ser66Pro Single submitter primary ciliary dyskinesia ⚠
- p.Ser73Arg Single submitter primary ciliary dyskinesia ⚠
- p.Ser75Phe Single submitter Inborn genetic diseases ⚠
- p.Thr329Ile Single submitter Inborn genetic diseases ⚠
- p.Thr332Ala Single submitter Inborn genetic diseases ⚠
- p.Thr7Ile Single submitter Inborn genetic diseases ⚠
- p.Thr7Pro Single submitter Inborn genetic diseases ⚠
- p.Tyr101His Single submitter primary ciliary dyskinesia ⚠
- p.Tyr106Ser Single submitter Inborn genetic diseases ⚠
- p.Val192Gly Single submitter primary ciliary dyskinesia ⚠
- p.Val197Leu Single submitter primary ciliary dyskinesia ⚠
- p.Val265Leu Single submitter Inborn genetic diseases ⚠
- p.Val265Met Single submitter Inborn genetic diseases ⚠