DRC2 — 233 ClinVar variants
All ClinVar germline DRC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 99 flagged for review →
13 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 4 Conflicting · 32 Benign · 5 Benign/Likely benign · 74 Likely benign · 101 Uncertain significance
Full DRC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 99
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 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DRC2 p.Asp228Val
Conflicting
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Ile183Met
Conflicting
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Ile399Thr
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 51
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DRC2 p.Ala109Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC2 p.Arg315Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC2 p.Asp45Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 27
-
DRC2 p.Gln112Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 27
-
DRC2 p.Gln227Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC2 p.Ile183Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 27
-
DRC2 p.Leu268Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 27
-
DRC2 p.Leu327Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 27
-
DRC2 p.Phe88Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC2 p.Thr332Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 27
-
DRC2 p.Ala109Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Ala114Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Ala116Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Ala423Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Ala8Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Arg134Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Arg218Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Arg291Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Arg421Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC2 p.Asp105Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Asp341Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Asp397Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC2 p.Asp478Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC2 p.Cys94Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Gln319Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Glu257Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Glu385Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.His133Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.His282Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.His481Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Ile161Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Leu19Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Leu25Met
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Leu299Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC2 p.Leu416Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Leu425Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Leu69His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC2 p.Lys264Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Lys320Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC2 p.Lys34Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC2 p.Lys3Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Met178Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Met196Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Met203Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Met31Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Ser119Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Ser275Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Ser283Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC2 p.Ser451Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC2 p.Tyr292Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Val302Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
Predictors split 45
The independent predictors disagree with each other — read with care.
-
DRC2 p.Ala114Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC2 p.Arg118Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC2 p.Arg294Cys
Benign
Multiple submitters
primary ciliary dyskinesia 27
-
DRC2 p.Arg294His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 27
-
DRC2 p.Arg433Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC2 p.Arg433Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 27
-
DRC2 p.Arg472Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC2 p.Asn53Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 27
-
DRC2 p.Asn62Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC2 p.Asp341Tyr
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia 27
-
DRC2 p.Asp427Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 27
-
DRC2 p.Leu425Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 27
-
DRC2 p.Phe356Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 27
-
DRC2 p.Tyr408Cys
Benign
Multiple submitters
primary ciliary dyskinesia 27
-
DRC2 p.Val68Ala
Likely benign
Multiple submitters
primary ciliary dyskinesia 27
-
DRC2 p.Arg134Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Arg240Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Arg284Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Arg70Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Asn330Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Asn429Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Gln310His
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Glu154Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Glu179Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Glu30Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC2 p.Glu30Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Glu359Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Glu402Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC2 p.Glu448Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Gly442Ser
Likely benign
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.His133Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC2 p.His52Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Ile258Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Ile272Met
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Ile279Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Ile339Thr
Likely benign
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Ile81Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Lys24Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Phe244Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Phe366Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Thr237Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Thr87Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Val445Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC2 p.Val72Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
-
DRC2 p.Val98Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia 27
All DRC2 variants
Pathogenic 13
- p.Glu165fs Multiple submitters primary ciliary dyskinesia 27
- p.Arg157fs Single submitter primary ciliary dyskinesia 27
- p.Arg240Ter Single submitter primary ciliary dyskinesia 27
- p.Asn232_Tyr233insTer Single submitter primary ciliary dyskinesia 27
- p.Gln269Ter Single submitter primary ciliary dyskinesia 27
- p.Glu220Ter Single submitter primary ciliary dyskinesia 27
- p.Leu247fs Single submitter primary ciliary dyskinesia 27
- p.Leu69fs Single submitter primary ciliary dyskinesia 27
- p.Thr237fs Single submitter primary ciliary dyskinesia 27
- p.Trp65Ter Single submitter primary ciliary dyskinesia 27
- p.Tyr113Ter Single submitter primary ciliary dyskinesia 27
- p.Val302fs Single submitter primary ciliary dyskinesia 27
- p.Val323fs Single submitter primary ciliary dyskinesia 27
Pathogenic/Likely pathogenic 1
- p.Ile293fs Multiple submitters primary ciliary dyskinesia 27
Likely pathogenic 3
- c.301-2A>C Single submitter primary ciliary dyskinesia 27
- c.470+1G>A Single submitter primary ciliary dyskinesia 27
- c.807+1G>C Single submitter primary ciliary dyskinesia 27
Conflicting classifications of pathogenicity 4
- p.Arg305Ter Single submitter primary ciliary dyskinesia 27
- p.Asp228Val Single submitter primary ciliary dyskinesia 27 ⚠
- p.Ile183Met Single submitter primary ciliary dyskinesia 27 ⚠
- p.Ile399Thr Single submitter Inborn genetic diseases ⚠
Benign 32
- c.1026+8_1026+9del Multiple submitters primary ciliary dyskinesia 27
- c.1179+15A>T Multiple submitters primary ciliary dyskinesia 27
- c.1180-34G>C Multiple submitters
- c.132+89C>T Multiple submitters
- c.471-28A>G Multiple submitters
- c.471-29G>A Multiple submitters
- c.808-36C>T Multiple submitters
- p.Arg294Cys Multiple submitters primary ciliary dyskinesia 27 ⚠
- p.Arg311= Multiple submitters primary ciliary dyskinesia 27
- p.Arg472His Multiple submitters primary ciliary dyskinesia 27
- p.His133Arg Multiple submitters primary ciliary dyskinesia 27
- p.His169Asn Multiple submitters primary ciliary dyskinesia 27
- p.Thr392= Multiple submitters primary ciliary dyskinesia 27
- p.Tyr408Cys Multiple submitters primary ciliary dyskinesia 27 ⚠
- c.1027-11G>A Single submitter primary ciliary dyskinesia 27
- c.1179+14del Single submitter primary ciliary dyskinesia 27
- c.1179+14dup Single submitter primary ciliary dyskinesia 27
- c.132+11T>C Single submitter primary ciliary dyskinesia 27
- c.132+20T>C Single submitter primary ciliary dyskinesia 27
- c.133-226T>C Single submitter
- c.300+299T>C Single submitter
- c.301-14T>C Single submitter primary ciliary dyskinesia 27
- c.470+119G>A Single submitter
- c.609+14G>A Single submitter primary ciliary dyskinesia 27
- c.609+175A>G Single submitter
- c.609+239C>T Single submitter
- c.609+271G>A Single submitter
- c.609+316A>G Single submitter
- p.Asp125= Single submitter primary ciliary dyskinesia 27
- p.Glu220= Single submitter primary ciliary dyskinesia 27
- p.Val249= Single submitter primary ciliary dyskinesia 27
- c.*8T>A No assertion criteria CCDC65-related disorder
Benign/Likely benign 5
- c.1180-8A>C Multiple submitters primary ciliary dyskinesia 27
- p.Asp341Tyr Multiple submitters primary ciliary dyskinesia 27 ⚠
- p.Gly378= Multiple submitters primary ciliary dyskinesia 27
- p.Gly477Ser Multiple submitters primary ciliary dyskinesia 27
- p.Leu222= Multiple submitters primary ciliary dyskinesia 27
Likely benign 74
- p.Glu152= Multiple submitters primary ciliary dyskinesia 27
- p.His78Leu Multiple submitters primary ciliary dyskinesia 27
- p.Val68Ala Multiple submitters primary ciliary dyskinesia 27 ⚠
- c.1026+12G>A Single submitter primary ciliary dyskinesia 27
- c.1026+14G>A Single submitter primary ciliary dyskinesia 27
- c.1027-12C>T Single submitter primary ciliary dyskinesia 27
- c.1027-15T>C Single submitter primary ciliary dyskinesia 27
- c.1179+10G>A Single submitter primary ciliary dyskinesia 27
- c.1179+18G>A Single submitter primary ciliary dyskinesia 27
- c.1179+9C>T Single submitter primary ciliary dyskinesia 27
- c.1179+9del Single submitter primary ciliary dyskinesia 27
- c.1180-18C>T Single submitter primary ciliary dyskinesia 27
- c.1180-19C>T Single submitter primary ciliary dyskinesia 27
- c.1180-7C>T Single submitter primary ciliary dyskinesia 27
- c.1180-9C>T Single submitter primary ciliary dyskinesia 27
- c.133-13T>C Single submitter primary ciliary dyskinesia 27
- c.133-9T>C Single submitter primary ciliary dyskinesia 27
- c.301-6G>T Single submitter primary ciliary dyskinesia 27
- c.471-8T>G Single submitter primary ciliary dyskinesia 27
- c.609+12G>A Single submitter primary ciliary dyskinesia 27
- c.609+13A>G Single submitter primary ciliary dyskinesia 27
- c.609+15T>C Single submitter primary ciliary dyskinesia 27
- c.609+160T>C Single submitter
- c.609+16A>G Single submitter primary ciliary dyskinesia 27
- c.610-13G>A Single submitter primary ciliary dyskinesia 27
- c.808-10G>A Single submitter primary ciliary dyskinesia 27
- c.808-12C>G Single submitter primary ciliary dyskinesia 27
- c.808-14C>T Single submitter primary ciliary dyskinesia 27
- c.808-20A>C Single submitter primary ciliary dyskinesia 27
- c.808-4C>T Single submitter primary ciliary dyskinesia 27
- c.-59T>C Single submitter
- p.Ala109= Single submitter primary ciliary dyskinesia 27
- p.Ala27= Single submitter primary ciliary dyskinesia 27
- p.Ala335= Single submitter primary ciliary dyskinesia 27
- p.Ala474= Single submitter primary ciliary dyskinesia 27
- p.Ala48= Single submitter primary ciliary dyskinesia 27
- p.Ala55= Single submitter primary ciliary dyskinesia 27
- p.Arg354= Single submitter primary ciliary dyskinesia 27
- p.Arg37= Single submitter primary ciliary dyskinesia 27
- p.Arg90= Single submitter primary ciliary dyskinesia 27
- p.Asn217= Single submitter primary ciliary dyskinesia 27
- p.Asn97= Single submitter primary ciliary dyskinesia 27
- p.Asp199= Single submitter primary ciliary dyskinesia 27
- p.Asp447= Single submitter primary ciliary dyskinesia 27
- p.Asp478= Single submitter primary ciliary dyskinesia 27
- p.Cys353= Single submitter primary ciliary dyskinesia 27
- p.Gln17= Single submitter primary ciliary dyskinesia 27
- p.Gln248= Single submitter primary ciliary dyskinesia 27
- p.Gln480= Single submitter primary ciliary dyskinesia 27
- p.Glu377= Single submitter primary ciliary dyskinesia 27
- p.Glu385= Single submitter primary ciliary dyskinesia 27
- p.Gly442Ser Single submitter primary ciliary dyskinesia 27 ⚠
- p.Ile293= Single submitter primary ciliary dyskinesia 27
- p.Ile339Thr Single submitter primary ciliary dyskinesia 27 ⚠
- p.Leu135= Single submitter primary ciliary dyskinesia 27
- p.Leu26= Single submitter primary ciliary dyskinesia 27
- p.Leu299= Single submitter primary ciliary dyskinesia 27
- p.Leu301= Single submitter primary ciliary dyskinesia 27
- p.Leu325= Single submitter primary ciliary dyskinesia 27
- p.Leu384= Single submitter
- p.Leu450= Single submitter primary ciliary dyskinesia 27
- p.Lys151= Single submitter primary ciliary dyskinesia 27
- p.Lys406= Single submitter primary ciliary dyskinesia 27
- p.Phe366= Single submitter primary ciliary dyskinesia 27
- p.Ser107= Single submitter primary ciliary dyskinesia 27
- p.Ser13= Single submitter primary ciliary dyskinesia 27
- p.Ser254= Single submitter primary ciliary dyskinesia 27
- p.Ser329= Single submitter primary ciliary dyskinesia 27
- p.Ser463= Single submitter primary ciliary dyskinesia 27
- p.Thr234= Single submitter primary ciliary dyskinesia 27
- p.Thr358= Single submitter primary ciliary dyskinesia 27
- p.Tyr113= Single submitter primary ciliary dyskinesia 27
- p.Val91= Single submitter primary ciliary dyskinesia 27
- p.Glu140= No assertion criteria CCDC65-related disorder
Uncertain significance 101
- p.Ala109Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala114Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg118Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg294His Multiple submitters primary ciliary dyskinesia 27 ⚠
- p.Arg315Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg433Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg433Trp Multiple submitters primary ciliary dyskinesia 27 ⚠
- p.Arg472Cys Multiple submitters Inborn genetic diseases ⚠
- p.Asn53Lys Multiple submitters primary ciliary dyskinesia 27 ⚠
- p.Asn62Asp Multiple submitters Inborn genetic diseases ⚠
- p.Asp427Gly Multiple submitters primary ciliary dyskinesia 27 ⚠
- p.Asp45Glu Multiple submitters primary ciliary dyskinesia 27 ⚠
- p.Gln112Lys Multiple submitters primary ciliary dyskinesia 27 ⚠
- p.Gln227Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile183Thr Multiple submitters primary ciliary dyskinesia 27 ⚠
- p.Leu268Pro Multiple submitters primary ciliary dyskinesia 27 ⚠
- p.Leu327Gln Multiple submitters primary ciliary dyskinesia 27 ⚠
- p.Leu425Arg Multiple submitters primary ciliary dyskinesia 27 ⚠
- p.Met1Lys Multiple submitters primary ciliary dyskinesia 27
- p.Phe356Ser Multiple submitters primary ciliary dyskinesia 27 ⚠
- p.Phe88Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr332Ala Multiple submitters primary ciliary dyskinesia 27 ⚠
- c.300+5G>A Single submitter primary ciliary dyskinesia 27
- c.470+3A>G Single submitter primary ciliary dyskinesia 27
- c.808-20A>G Single submitter primary ciliary dyskinesia 27
- p.Ala109Ser Single submitter primary ciliary dyskinesia 27 ⚠
- p.Ala114Val Single submitter primary ciliary dyskinesia 27 ⚠
- p.Ala116Val Single submitter primary ciliary dyskinesia 27 ⚠
- p.Ala423Asp Single submitter primary ciliary dyskinesia 27 ⚠
- p.Ala8Val Single submitter primary ciliary dyskinesia 27 ⚠
- p.Arg134Pro Single submitter primary ciliary dyskinesia 27 ⚠
- p.Arg134Trp Single submitter primary ciliary dyskinesia 27 ⚠
- p.Arg218Lys Single submitter primary ciliary dyskinesia 27 ⚠
- p.Arg240Gln Single submitter primary ciliary dyskinesia 27 ⚠
- p.Arg284Cys Single submitter primary ciliary dyskinesia 27 ⚠
- p.Arg291Gln Single submitter primary ciliary dyskinesia 27 ⚠
- p.Arg421Ser Single submitter Inborn genetic diseases ⚠
- p.Arg422Ter Single submitter
- p.Arg70Trp Single submitter primary ciliary dyskinesia 27 ⚠
- p.Asn330Ile Single submitter primary ciliary dyskinesia 27 ⚠
- p.Asn429Ser Single submitter primary ciliary dyskinesia 27 ⚠
- p.Asp105Glu Single submitter primary ciliary dyskinesia 27 ⚠
- p.Asp341Gly Single submitter primary ciliary dyskinesia 27 ⚠
- p.Asp397Asn Single submitter Inborn genetic diseases ⚠
- p.Asp478Val Single submitter Inborn genetic diseases ⚠
- p.Cys94Arg Single submitter primary ciliary dyskinesia 27 ⚠
- p.Gln269= Single submitter primary ciliary dyskinesia 27
- p.Gln310His Single submitter primary ciliary dyskinesia 27 ⚠
- p.Gln319Arg Single submitter primary ciliary dyskinesia 27 ⚠
- p.Glu154Lys Single submitter primary ciliary dyskinesia 27 ⚠
- p.Glu179Lys Single submitter primary ciliary dyskinesia 27 ⚠
- p.Glu220del Single submitter primary ciliary dyskinesia 27
- p.Glu257Asp Single submitter primary ciliary dyskinesia 27 ⚠
- p.Glu30Asp Single submitter Inborn genetic diseases ⚠
- p.Glu30Lys Single submitter primary ciliary dyskinesia 27 ⚠
- p.Glu359Lys Single submitter primary ciliary dyskinesia 27 ⚠
- p.Glu385Asp Single submitter primary ciliary dyskinesia 27 ⚠
- p.Glu402Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu448Lys Single submitter primary ciliary dyskinesia 27 ⚠
- p.His133Gln Single submitter primary ciliary dyskinesia 27 ⚠
- p.His133Tyr Single submitter Inborn genetic diseases ⚠
- p.His282Tyr Single submitter primary ciliary dyskinesia 27 ⚠
- p.His481Tyr Single submitter primary ciliary dyskinesia 27 ⚠
- p.His52Pro Single submitter primary ciliary dyskinesia 27 ⚠
- p.Ile161Thr Single submitter primary ciliary dyskinesia 27 ⚠
- p.Ile258Thr Single submitter primary ciliary dyskinesia 27 ⚠
- p.Ile272Met Single submitter primary ciliary dyskinesia 27 ⚠
- p.Ile279Phe Single submitter primary ciliary dyskinesia 27 ⚠
- p.Ile81Thr Single submitter primary ciliary dyskinesia 27 ⚠
- p.Leu19Ile Single submitter primary ciliary dyskinesia 27 ⚠
- p.Leu25Met Single submitter primary ciliary dyskinesia 27 ⚠
- p.Leu299Phe Single submitter Inborn genetic diseases ⚠
- p.Leu416Pro Single submitter primary ciliary dyskinesia 27 ⚠
- p.Leu425Pro Single submitter primary ciliary dyskinesia 27 ⚠
- p.Leu69His Single submitter Inborn genetic diseases ⚠
- p.Lys24Asn Single submitter primary ciliary dyskinesia 27 ⚠
- p.Lys264Arg Single submitter primary ciliary dyskinesia 27 ⚠
- p.Lys320Arg Single submitter Inborn genetic diseases ⚠
- p.Lys320del Single submitter primary ciliary dyskinesia 27
- p.Lys34Arg Single submitter Inborn genetic diseases ⚠
- p.Lys393= Single submitter primary ciliary dyskinesia 27
- p.Lys3Arg Single submitter primary ciliary dyskinesia 27 ⚠
- p.Lys49_Ala55del Single submitter primary ciliary dyskinesia 27
- p.Met178Thr Single submitter primary ciliary dyskinesia 27 ⚠
- p.Met196Val Single submitter primary ciliary dyskinesia 27 ⚠
- p.Met203Ile Single submitter primary ciliary dyskinesia 27 ⚠
- p.Met31Ile Single submitter primary ciliary dyskinesia 27 ⚠
- p.Phe244Leu Single submitter primary ciliary dyskinesia 27 ⚠
- p.Phe366Leu Single submitter primary ciliary dyskinesia 27 ⚠
- p.Ser119Asn Single submitter primary ciliary dyskinesia 27 ⚠
- p.Ser275Ala Single submitter primary ciliary dyskinesia 27 ⚠
- p.Ser283Asn Single submitter Inborn genetic diseases ⚠
- p.Ser446fs Single submitter primary ciliary dyskinesia 27
- p.Ser451Asn Single submitter Inborn genetic diseases ⚠
- p.Thr237Ile Single submitter primary ciliary dyskinesia 27 ⚠
- p.Thr87Ile Single submitter primary ciliary dyskinesia 27 ⚠
- p.Tyr292Cys Single submitter primary ciliary dyskinesia 27 ⚠
- p.Val302Ile Single submitter primary ciliary dyskinesia 27 ⚠
- p.Val445Ala Single submitter Inborn genetic diseases ⚠
- p.Val72Phe Single submitter primary ciliary dyskinesia 27 ⚠
- p.Val98Ala Single submitter primary ciliary dyskinesia 27 ⚠