DRC1 — 578 ClinVar variants
All ClinVar germline DRC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 229 flagged for review →
21 Pathogenic · 3 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 13 Conflicting · 75 Benign · 3 Benign/Likely benign · 227 Likely benign · 225 Uncertain significance
Full DRC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 229
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 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DRC1 p.Ala9Val
Conflicting
Single submitter
Inborn genetic diseases
-
DRC1 p.Arg375His
Conflicting
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Arg464His
Conflicting
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Asn13Lys
Conflicting
Single submitter
Inborn genetic diseases
-
DRC1 p.Glu396Lys
Conflicting
Single submitter
Inborn genetic diseases
-
DRC1 p.Ile507Leu
Conflicting
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Thr692Ser
Conflicting
Single submitter
primary ciliary dyskinesia 21
Predictors lean, ClinVar uncertain 114
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DRC1 p.Ala250Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC1 p.Ala473Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DRC1 p.Ala475Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DRC1 p.Arg694Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC1 p.Arg736Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DRC1 p.Asn623Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DRC1 p.Asn651Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC1 p.Asn701Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC1 p.Asp541Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DRC1 p.Gln160Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC1 p.Glu105Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DRC1 p.His107Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC1 p.Ile103Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DRC1 p.Lys638Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC1 p.Pro614Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DRC1 p.Pro617Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC1 p.Ser584Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC1 p.Ser72Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC1 p.Thr592Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC1 p.Trp141Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 21
-
DRC1 p.Trp677Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DRC1 p.Val625Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DRC1 p.Ala238Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Ala24Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Ala416Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Ala454Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Ala473Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Ala474Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Ala475Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Ala555Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Ala570Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Ala644Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Arg262Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Arg339Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Arg375Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Arg39Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia 21
-
DRC1 p.Arg40Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Arg421Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Arg557Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Arg640Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Arg647Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Arg80Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Asn274Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Asn2Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Asn708His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Asp132Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Asp30Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Asp346Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Asp346Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Asp529Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Asp542Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Asp60Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Cys523Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- DRC1 p.Gln188Arg Uncertain significance Single submitter
-
DRC1 p.Gln367Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Gln384Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Gln456Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Gln520Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Gln649Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Gln712Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Glu16Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Glu406Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Glu407Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Glu478Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Glu508Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Glu538Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Glu57Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Gly429Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Gly596Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Gly5Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Gly605Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.His107Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.His17Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- DRC1 p.His426Arg Uncertain significance Single submitter
-
DRC1 p.Ile101Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Ile103Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Ile289Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Ile422Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Ile446Met
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Ile457Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Leu496Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Leu514Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Leu543Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Leu562Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Lys140Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Lys191Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Lys212Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Lys265Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Lys338Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Lys74Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Met387Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Met634Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Pro3Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DRC1 p.Pro450Leu Uncertain significance Single submitter
-
DRC1 p.Pro450Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Pro484Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Pro4Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Pro517Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Pro614Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Pro645Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Ser371Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Ser447Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Ser465Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Ser503Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Ser601Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Thr580Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Thr682Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Thr709Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DRC1 p.Thr739Lys Uncertain significance Single submitter
-
DRC1 p.Trp402Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Tyr544Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Tyr73Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Val458Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Val633Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
Predictors split 108
The independent predictors disagree with each other — read with care.
-
DRC1 p.Ala356Val
Benign
Multiple submitters
primary ciliary dyskinesia 21
-
DRC1 p.Ala391Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DRC1 p.Ala416Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC1 p.Ala45Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DRC1 p.Arg206Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC1 p.Arg233Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DRC1 p.Arg233His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC1 p.Arg262Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DRC1 p.Arg262His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DRC1 p.Arg375Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC1 p.Arg464Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DRC1 p.Arg46Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DRC1 p.Asp372Asn
Uncertain significance
Multiple submitters
spermatogenic failure 80
-
DRC1 p.Gln321His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC1 p.Gln33Arg
Likely benign
Multiple submitters
primary ciliary dyskinesia
-
DRC1 p.Gln716Pro
Benign
Multiple submitters
primary ciliary dyskinesia
-
DRC1 p.Glu155Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC1 p.Glu329Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DRC1 p.Glu396Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DRC1 p.Glu467Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DRC1 p.Ile149Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DRC1 p.Ile413Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC1 p.Pro25Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC1 p.Pro435Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DRC1 p.Ser19Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DRC1 p.Ser453Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC1 p.Ser702Ile
Benign
Multiple submitters
primary ciliary dyskinesia
-
DRC1 p.Ser79Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC1 p.Thr159Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC1 p.Thr331Ile
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia
-
DRC1 p.Tyr309Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC1 p.Val332Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC1 p.Val547Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC1 p.Ala165Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Ala409Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Ala416Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Ala49Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Ala49Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Ala631Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Arg117Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia 21
-
DRC1 p.Arg117His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Arg206Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Arg219Cys
Likely benign
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Arg219His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Arg219Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Arg219Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Arg326Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Arg39Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Arg50Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Arg527Ser
Conflicting
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Arg52Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Arg643Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Arg653Cys
Conflicting
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Arg736Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Asn548Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Asp280Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Asp294Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Asp658Glu
Likely benign
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Gln303His
Conflicting
Single submitter
Inborn genetic diseases
-
DRC1 p.Gln361Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Gln520His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Gln717His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Gln728Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Glu177Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Glu221Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Glu221Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- DRC1 p.Glu267Gln Uncertain significance Single submitter
-
DRC1 p.Glu365Lys
Conflicting
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Glu597Gly
Likely benign
Single submitter
Inborn genetic diseases
-
DRC1 p.Glu609Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Glu64Gly
Conflicting
Single submitter
Inborn genetic diseases
-
DRC1 p.Glu700Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Glu705Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Glu92Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Gly504Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.His28Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.His28Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Ile120Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Ile137Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Ile175Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Ile225Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Ile225Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Ile347Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Ile495Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Leu483Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Leu551Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Leu55His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Leu714Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Lys194Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Lys264Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Lys686Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Phe229Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Phe549Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Pro435Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Ser26Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Ser533Phe
Likely benign
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Ser560Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Ser656Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Ser672Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Thr138Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Thr370Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Thr682Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Trp154Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Val127Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Val211Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC1 p.Val652Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Val690Ala
Likely benign
Single submitter
primary ciliary dyskinesia
-
DRC1 p.Val690Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
All DRC1 variants
Pathogenic 21
- p.Ser659fs Multiple submitters primary ciliary dyskinesia
- p.Val690fs Multiple submitters spermatogenic failure 80
- p.Arg117fs Single submitter primary ciliary dyskinesia
- p.Arg554Ter Single submitter primary ciliary dyskinesia
- p.Arg80Ter Single submitter spermatogenic failure 80
- p.Asn442fs Single submitter primary ciliary dyskinesia
- p.Gln131Ter Single submitter primary ciliary dyskinesia
- p.Gln296fs Single submitter primary ciliary dyskinesia
- p.Glu143Ter Single submitter primary ciliary dyskinesia
- p.Ile225fs Single submitter primary ciliary dyskinesia
- p.Leu167_Leu168insTer Single submitter primary ciliary dyskinesia 21
- p.Leu518fs Single submitter primary ciliary dyskinesia
- p.Lys133Ter Single submitter primary ciliary dyskinesia
- p.Lys338fs Single submitter primary ciliary dyskinesia
- p.Lys360Ter Single submitter primary ciliary dyskinesia
- p.Ser584Ter Single submitter primary ciliary dyskinesia
- p.Ser642Ter Single submitter primary ciliary dyskinesia
- p.Thr491fs Single submitter primary ciliary dyskinesia
- p.Trp244Ter Single submitter primary ciliary dyskinesia
- p.Trp402Ter Single submitter
- p.Lys686Ter No assertion criteria primary ciliary dyskinesia 21
Pathogenic/Likely pathogenic 3
- p.Gln118Ter Multiple submitters primary ciliary dyskinesia
- p.Gln337Ter Multiple submitters primary ciliary dyskinesia
- p.Gln37fs Multiple submitters primary ciliary dyskinesia 21
Likely pathogenic 11
- c.1599+1G>A Multiple submitters primary ciliary dyskinesia 21
- c.1029-1G>T Single submitter primary ciliary dyskinesia
- c.156-1724_244-2550del Single submitter primary ciliary dyskinesia 1
- c.1600-2A>G Single submitter primary ciliary dyskinesia
- c.357-2A>G Single submitter primary ciliary dyskinesia
- p.Arg343Pro Single submitter spermatogenic failure 80
- p.Asp268Ter Single submitter spermatogenic failure 80
- p.Gln188Ter Single submitter spermatogenic failure 80
- p.Gln649Ter Single submitter primary ciliary dyskinesia 21
- p.Met634fs Single submitter primary ciliary dyskinesia 21
- p.Trp399Ter Single submitter primary ciliary dyskinesia 21
Conflicting classifications of pathogenicity 13
- p.Ala9Val Single submitter Inborn genetic diseases ⚠
- p.Arg375His Single submitter primary ciliary dyskinesia ⚠
- p.Arg464His Single submitter primary ciliary dyskinesia ⚠
- p.Arg527Ser Single submitter primary ciliary dyskinesia ⚠
- p.Arg653Cys Single submitter primary ciliary dyskinesia ⚠
- p.Asn13Lys Single submitter Inborn genetic diseases ⚠
- p.Gln303His Single submitter Inborn genetic diseases ⚠
- p.Glu365Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu396Lys Single submitter Inborn genetic diseases ⚠
- p.Glu64Gly Single submitter Inborn genetic diseases ⚠
- p.Ile507Leu Single submitter primary ciliary dyskinesia ⚠
- p.Ter741Cys Single submitter primary ciliary dyskinesia 21
- p.Thr692Ser Single submitter primary ciliary dyskinesia 21 ⚠
Benign 75
- c.1397-15A>G Multiple submitters primary ciliary dyskinesia 21
- c.1510-170G>A Multiple submitters
- c.1510-25G>C Multiple submitters
- c.155+30C>A Multiple submitters
- c.156-40T>C Multiple submitters
- c.1920-180C>T Multiple submitters
- c.1920-188G>A Multiple submitters
- c.1920-212G>T Multiple submitters
- c.1920-220T>G Multiple submitters
- c.2063+152A>G Multiple submitters
- c.2063+71G>A Multiple submitters
- c.2166+16_2166+17insA Multiple submitters primary ciliary dyskinesia 21
- c.2166+33G>A Multiple submitters
- c.2166+68G>A Multiple submitters
- c.2166+92C>A Multiple submitters
- c.357-150C>A Multiple submitters
- c.357-68C>T Multiple submitters
- c.540+12G>A Multiple submitters primary ciliary dyskinesia
- c.678+38A>G Multiple submitters
- c.679-197G>A Multiple submitters
- c.679-277G>A Multiple submitters
- c.889-31A>G Multiple submitters
- c.889-33G>A Multiple submitters
- c.-15C>T Multiple submitters
- c.*45G>A Multiple submitters
- c.*9G>A Multiple submitters
- p.Ala356Val Multiple submitters primary ciliary dyskinesia 21 ⚠
- p.Ala570= Multiple submitters primary ciliary dyskinesia
- p.Gln716Pro Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu608= Multiple submitters primary ciliary dyskinesia
- p.Lys357Glu Multiple submitters primary ciliary dyskinesia 21
- p.Ser453= Multiple submitters primary ciliary dyskinesia
- p.Ser659Leu Multiple submitters primary ciliary dyskinesia
- p.Ser702Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr667= Multiple submitters primary ciliary dyskinesia
- p.Trp399Arg Multiple submitters primary ciliary dyskinesia 21
- p.Tyr58His Multiple submitters primary ciliary dyskinesia
- p.Val633Phe Multiple submitters primary ciliary dyskinesia
- p.Val734Met Multiple submitters primary ciliary dyskinesia
- c.1028+205G>T Single submitter
- c.1164-72C>T Single submitter
- c.1509+15G>A Single submitter primary ciliary dyskinesia
- c.156-144C>T Single submitter
- c.156-228ATT[11] Single submitter
- c.156-228ATT[12] Single submitter
- c.156-228ATT[13] Single submitter
- c.156-228ATT[8] Single submitter
- c.156-228ATT[9] Single submitter
- c.156-234G>T Single submitter
- c.1600-3dup Single submitter primary ciliary dyskinesia
- c.1689+189C>T Single submitter
- c.1690-234A>G Single submitter
- c.1690-249G>A Single submitter
- c.1919+209C>T Single submitter
- c.1919+315A>G Single submitter
- c.1919+337C>T Single submitter
- c.2166+196A>G Single submitter
- c.244-289_244-288del Single submitter
- c.244-342T>G Single submitter
- c.356+177dup Single submitter
- c.357-260C>T Single submitter
- c.540+207T>C Single submitter
- c.765+105_765+106dup Single submitter
- c.765+106dup Single submitter
- c.765+243C>T Single submitter
- c.765+273G>A Single submitter
- c.766-263dup Single submitter
- c.889-58TG[12] Single submitter
- c.889-58TG[14] Single submitter
- c.889-58TG[15] Single submitter
- c.889-9dup Single submitter primary ciliary dyskinesia
- p.Ile564= Single submitter primary ciliary dyskinesia
- p.Pro617= Single submitter primary ciliary dyskinesia
- p.Thr582= Single submitter primary ciliary dyskinesia
- p.Val690= Single submitter primary ciliary dyskinesia
Benign/Likely benign 3
- p.Leu498Val Multiple submitters primary ciliary dyskinesia
- p.Pro12= Multiple submitters primary ciliary dyskinesia 21
- p.Thr331Ile Multiple submitters primary ciliary dyskinesia ⚠
Likely benign 227
- c.1163+49C>T Multiple submitters
- c.1510-113G>A Multiple submitters
- c.1510-75G>C Multiple submitters
- c.2166+6C>T Multiple submitters primary ciliary dyskinesia
- c.357-125G>A Multiple submitters
- c.540+93G>C Multiple submitters
- c.679-4G>A Multiple submitters primary ciliary dyskinesia
- c.765+15C>T Multiple submitters primary ciliary dyskinesia 21
- c.889-29A>G Multiple submitters
- c.889-77G>A Multiple submitters
- p.Cys281= Multiple submitters primary ciliary dyskinesia
- p.Gln33Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Gln674Leu Multiple submitters primary ciliary dyskinesia
- p.Ile225= Multiple submitters primary ciliary dyskinesia
- p.Phe134= Multiple submitters primary ciliary dyskinesia
- p.Thr692= Multiple submitters primary ciliary dyskinesia
- c.1028+10C>A Single submitter primary ciliary dyskinesia
- c.1028+10C>G Single submitter primary ciliary dyskinesia
- c.1028+11A>G Single submitter primary ciliary dyskinesia
- c.1028+12T>C Single submitter primary ciliary dyskinesia
- c.1028+17_1028+25del Single submitter primary ciliary dyskinesia
- c.1028+18G>A Single submitter primary ciliary dyskinesia
- c.1028+19C>T Single submitter primary ciliary dyskinesia
- c.1028+20G>A Single submitter primary ciliary dyskinesia
- c.1029-18T>C Single submitter primary ciliary dyskinesia
- c.1029-247C>T Single submitter
- c.1029-4C>T Single submitter primary ciliary dyskinesia
- c.1029-7C>T Single submitter primary ciliary dyskinesia
- c.1163+10G>A Single submitter primary ciliary dyskinesia
- c.1163+15T>C Single submitter primary ciliary dyskinesia
- c.1163+20C>T Single submitter primary ciliary dyskinesia
- c.1164-128G>A Single submitter
- c.1164-17G>A Single submitter primary ciliary dyskinesia
- c.1164-19C>G Single submitter primary ciliary dyskinesia
- c.1164-19C>T Single submitter primary ciliary dyskinesia
- c.1164-9C>T Single submitter primary ciliary dyskinesia
- c.1396+19T>A Single submitter primary ciliary dyskinesia
- c.1397-11C>T Single submitter primary ciliary dyskinesia
- c.1397-16_1397-15inv Single submitter primary ciliary dyskinesia
- c.1397-20T>G Single submitter primary ciliary dyskinesia
- c.1509+10G>A Single submitter primary ciliary dyskinesia
- c.1509+11G>A Single submitter primary ciliary dyskinesia
- c.1509+13G>A Single submitter primary ciliary dyskinesia
- c.1509+17G>A Single submitter primary ciliary dyskinesia
- c.1510-18C>T Single submitter primary ciliary dyskinesia
- c.1510-6C>A Single submitter primary ciliary dyskinesia
- c.155+11G>A Single submitter primary ciliary dyskinesia
- c.155+12G>C Single submitter primary ciliary dyskinesia
- c.155+20G>A Single submitter primary ciliary dyskinesia
- c.156-7A>C Single submitter primary ciliary dyskinesia
- c.1599+11C>T Single submitter primary ciliary dyskinesia
- c.1600-16del Single submitter primary ciliary dyskinesia
- c.1600-5C>T Single submitter primary ciliary dyskinesia
- c.1600-7G>A Single submitter primary ciliary dyskinesia
- c.1600-8C>T Single submitter primary ciliary dyskinesia
- c.1689+10G>A Single submitter primary ciliary dyskinesia
- c.1689+11G>A Single submitter primary ciliary dyskinesia
- c.1689+12T>G Single submitter primary ciliary dyskinesia
- c.1689+13G>A Single submitter primary ciliary dyskinesia
- c.1689+20G>A Single submitter primary ciliary dyskinesia
- c.1690-10C>T Single submitter primary ciliary dyskinesia
- c.1690-17C>G Single submitter primary ciliary dyskinesia
- c.1690-17C>T Single submitter primary ciliary dyskinesia
- c.1690-6C>T Single submitter primary ciliary dyskinesia
- c.1919+10G>A Single submitter primary ciliary dyskinesia
- c.1919+7T>C Single submitter primary ciliary dyskinesia
- c.1920-13T>C Single submitter primary ciliary dyskinesia
- c.1920-14C>A Single submitter primary ciliary dyskinesia
- c.1920-14C>T Single submitter primary ciliary dyskinesia
- c.1920-15G>A Single submitter primary ciliary dyskinesia
- c.1920-189C>T Single submitter
- c.1920-20A>G Single submitter primary ciliary dyskinesia
- c.2064-10C>T Single submitter primary ciliary dyskinesia
- c.2064-17G>A Single submitter primary ciliary dyskinesia
- c.2064-18C>T Single submitter primary ciliary dyskinesia
- c.2064-8G>A Single submitter primary ciliary dyskinesia
- c.2166+10G>T Single submitter primary ciliary dyskinesia
- c.2166+11G>T Single submitter primary ciliary dyskinesia
- c.2166+7G>A Single submitter primary ciliary dyskinesia
- c.2166+9C>T Single submitter primary ciliary dyskinesia
- c.2167-13C>G Single submitter primary ciliary dyskinesia
- c.2167-20T>A Single submitter primary ciliary dyskinesia
- c.2167-5T>C Single submitter primary ciliary dyskinesia
- c.2167-88C>T Single submitter
- c.2167-9C>G Single submitter primary ciliary dyskinesia
- c.243+10G>C Single submitter primary ciliary dyskinesia
- c.243+10G>T Single submitter
- c.243+7A>G Single submitter primary ciliary dyskinesia
- c.243+9T>C Single submitter primary ciliary dyskinesia
- c.244-14dup Single submitter primary ciliary dyskinesia
- c.244-16A>G Single submitter primary ciliary dyskinesia
- c.356+177del Single submitter
- c.356+229C>T Single submitter
- c.356+8C>T Single submitter primary ciliary dyskinesia
- c.357-15T>A Single submitter primary ciliary dyskinesia
- c.540+11C>T Single submitter primary ciliary dyskinesia
- c.541-14A>G Single submitter primary ciliary dyskinesia
- c.541-17del Single submitter primary ciliary dyskinesia
- c.541-311G>A Single submitter
- c.541-4C>G Single submitter primary ciliary dyskinesia
- c.678+17A>G Single submitter primary ciliary dyskinesia
- c.678+8G>A Single submitter primary ciliary dyskinesia
- c.679-4G>T Single submitter primary ciliary dyskinesia
- c.765+106del Single submitter
- c.765+17G>A Single submitter primary ciliary dyskinesia
- c.765+19C>G Single submitter primary ciliary dyskinesia
- c.766-13C>T Single submitter primary ciliary dyskinesia
- c.766-6C>A Single submitter primary ciliary dyskinesia
- c.766-7C>T Single submitter primary ciliary dyskinesia
- c.888+281C>T Single submitter
- c.888+9G>A Single submitter primary ciliary dyskinesia
- c.889-15T>C Single submitter primary ciliary dyskinesia
- c.889-32TA[9] Single submitter
- c.889-58TG[17] Single submitter
- c.889-9T>A Single submitter primary ciliary dyskinesia
- c.-40T>C Single submitter
- c.*8C>T Single submitter
- p.Ala100= Single submitter primary ciliary dyskinesia
- p.Ala165= Single submitter primary ciliary dyskinesia
- p.Ala228= Single submitter primary ciliary dyskinesia
- p.Ala473= Single submitter primary ciliary dyskinesia
- p.Ala474= Single submitter primary ciliary dyskinesia
- p.Ala475= Single submitter primary ciliary dyskinesia
- p.Ala575= Single submitter primary ciliary dyskinesia
- p.Ala575Val Single submitter primary ciliary dyskinesia
- p.Ala679= Single submitter primary ciliary dyskinesia
- p.Ala683= Single submitter primary ciliary dyskinesia
- p.Ala713= Single submitter primary ciliary dyskinesia
- p.Ala84= Single submitter primary ciliary dyskinesia
- p.Arg206= Single submitter primary ciliary dyskinesia
- p.Arg219Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg233= Single submitter primary ciliary dyskinesia
- p.Arg421= Single submitter primary ciliary dyskinesia
- p.Arg464= Single submitter primary ciliary dyskinesia
- p.Arg50= Single submitter primary ciliary dyskinesia
- p.Arg51= Single submitter primary ciliary dyskinesia
- p.Arg554Gln Single submitter Inborn genetic diseases
- p.Arg647= Single submitter primary ciliary dyskinesia
- p.Asn13= Single submitter primary ciliary dyskinesia
- p.Asn252= Single submitter
- p.Asn31= Single submitter primary ciliary dyskinesia
- p.Asn655= Single submitter primary ciliary dyskinesia
- p.Asn724= Single submitter primary ciliary dyskinesia
- p.Asp102= Single submitter primary ciliary dyskinesia
- p.Asp11= Single submitter primary ciliary dyskinesia
- p.Asp187= Single submitter primary ciliary dyskinesia
- p.Asp501= Single submitter primary ciliary dyskinesia
- p.Asp658Glu Single submitter primary ciliary dyskinesia ⚠
- p.Cys201= Single submitter primary ciliary dyskinesia
- p.Gln151= Single submitter
- p.Gln179= Single submitter primary ciliary dyskinesia
- p.Gln310= Single submitter
- p.Gln336= Single submitter primary ciliary dyskinesia
- p.Glu152= Single submitter primary ciliary dyskinesia
- p.Glu220= Single submitter primary ciliary dyskinesia
- p.Glu382= Single submitter primary ciliary dyskinesia
- p.Glu407= Single submitter primary ciliary dyskinesia
- p.Glu540= Single submitter primary ciliary dyskinesia
- p.Glu585= Single submitter
- p.Glu597Gly Single submitter Inborn genetic diseases ⚠
- p.Glu611Lys Single submitter Inborn genetic diseases
- p.Glu660= Single submitter primary ciliary dyskinesia
- p.Glu700= Single submitter primary ciliary dyskinesia
- p.Gly5= Single submitter primary ciliary dyskinesia
- p.Gly504= Single submitter primary ciliary dyskinesia
- p.Gly596= Single submitter primary ciliary dyskinesia
- p.Gly605= Single submitter primary ciliary dyskinesia
- p.Gly90= Single submitter primary ciliary dyskinesia
- p.His427= Single submitter primary ciliary dyskinesia
- p.Ile137= Single submitter primary ciliary dyskinesia
- p.Ile446= Single submitter primary ciliary dyskinesia
- p.Ile487= Single submitter primary ciliary dyskinesia
- p.Leu123= Single submitter primary ciliary dyskinesia
- p.Leu157= Single submitter primary ciliary dyskinesia
- p.Leu167= Single submitter primary ciliary dyskinesia
- p.Leu23= Single submitter primary ciliary dyskinesia
- p.Leu259= Single submitter primary ciliary dyskinesia
- p.Leu403= Single submitter primary ciliary dyskinesia
- p.Leu428= Single submitter primary ciliary dyskinesia
- p.Leu506= Single submitter primary ciliary dyskinesia
- p.Leu516= Single submitter primary ciliary dyskinesia
- p.Leu535= Single submitter primary ciliary dyskinesia
- p.Leu586= Single submitter primary ciliary dyskinesia
- p.Leu588= Single submitter primary ciliary dyskinesia
- p.Leu629= Single submitter primary ciliary dyskinesia
- p.Leu697= Single submitter primary ciliary dyskinesia
- p.Leu699= Single submitter primary ciliary dyskinesia
- p.Lys212= Single submitter primary ciliary dyskinesia
- p.Lys290= Single submitter primary ciliary dyskinesia
- p.Lys306= Single submitter primary ciliary dyskinesia
- p.Lys324= Single submitter primary ciliary dyskinesia
- p.Lys490= Single submitter primary ciliary dyskinesia
- p.Lys574_Glu578del Single submitter primary ciliary dyskinesia
- p.Lys62= Single submitter primary ciliary dyskinesia
- p.Lys63= Single submitter primary ciliary dyskinesia
- p.Lys686= Single submitter primary ciliary dyskinesia
- p.Met378Leu Single submitter Inborn genetic diseases
- p.Phe550= Single submitter primary ciliary dyskinesia
- p.Pro3= Single submitter primary ciliary dyskinesia
- p.Pro450= Single submitter primary ciliary dyskinesia
- p.Pro484= Single submitter primary ciliary dyskinesia
- p.Pro615= Single submitter primary ciliary dyskinesia
- p.Pro645= Single submitter primary ciliary dyskinesia
- p.Pro730= Single submitter primary ciliary dyskinesia
- p.Pro738= Single submitter primary ciliary dyskinesia
- p.Ser19= Single submitter primary ciliary dyskinesia
- p.Ser239= Single submitter primary ciliary dyskinesia
- p.Ser29= Single submitter primary ciliary dyskinesia
- p.Ser330= Single submitter primary ciliary dyskinesia
- p.Ser371= Single submitter primary ciliary dyskinesia
- p.Ser533Phe Single submitter primary ciliary dyskinesia ⚠
- p.Ser642= Single submitter primary ciliary dyskinesia
- p.Ser65= Single submitter primary ciliary dyskinesia
- p.Ser659= Single submitter primary ciliary dyskinesia
- p.Thr331= Single submitter primary ciliary dyskinesia
- p.Thr370= Single submitter primary ciliary dyskinesia
- p.Thr592= Single submitter primary ciliary dyskinesia
- p.Thr613= Single submitter primary ciliary dyskinesia
- p.Thr666Ala Single submitter Inborn genetic diseases
- p.Tyr373= Single submitter primary ciliary dyskinesia
- p.Tyr58= Single submitter primary ciliary dyskinesia
- p.Val110= Single submitter primary ciliary dyskinesia
- p.Val332= Single submitter primary ciliary dyskinesia
- p.Val443= Single submitter primary ciliary dyskinesia
- p.Val648= Single submitter primary ciliary dyskinesia
- p.Val690Ala Single submitter primary ciliary dyskinesia ⚠
- p.Val734= Single submitter primary ciliary dyskinesia
Uncertain significance 225
- p.Ala250Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala391Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala416Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ala45Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala473Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala475Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg206Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg233Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg233His Multiple submitters Inborn genetic diseases ⚠
- p.Arg262Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg262His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg375Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg464Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg46Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg694fs Multiple submitters primary ciliary dyskinesia
- p.Arg694Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg736Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn623Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn651Asp Multiple submitters Inborn genetic diseases ⚠
- p.Asn701Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp372Asn Multiple submitters spermatogenic failure 80 ⚠
- p.Asp541Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Gln160Pro Multiple submitters Inborn genetic diseases ⚠
- p.Gln321His Multiple submitters Inborn genetic diseases ⚠
- p.Glu105Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu155Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu329Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu396Asp Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu467Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.His107Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ile103Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile149Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile413Thr Multiple submitters Inborn genetic diseases ⚠
- p.Lys638Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro25Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro435Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro614Ala Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro617Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser19Phe Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser453Cys Multiple submitters Inborn genetic diseases ⚠
- p.Ser584Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser72Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser79Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr159Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr592Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr732fs Multiple submitters primary ciliary dyskinesia 21
- p.Trp141Gly Multiple submitters primary ciliary dyskinesia 21 ⚠
- p.Trp677Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Tyr309Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val332Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val547Met Multiple submitters Inborn genetic diseases ⚠
- p.Val625Ile Multiple submitters primary ciliary dyskinesia ⚠
- c.1029-4C>G Single submitter primary ciliary dyskinesia
- c.356+3A>G Single submitter primary ciliary dyskinesia
- c.356+5G>A Single submitter
- c.765+6G>A Single submitter primary ciliary dyskinesia
- p.Ala165Val Single submitter Inborn genetic diseases ⚠
- p.Ala238Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala24Glu Single submitter primary ciliary dyskinesia ⚠
- p.Ala356Ile Single submitter primary ciliary dyskinesia
- p.Ala409Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala416Asp Single submitter Inborn genetic diseases ⚠
- p.Ala416Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala454Thr Single submitter Inborn genetic diseases ⚠
- p.Ala473Asp Single submitter primary ciliary dyskinesia ⚠
- p.Ala474Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala475Thr Single submitter Inborn genetic diseases ⚠
- p.Ala49Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala49Thr Single submitter Inborn genetic diseases ⚠
- p.Ala555Asp Single submitter primary ciliary dyskinesia ⚠
- p.Ala570Gly Single submitter Inborn genetic diseases ⚠
- p.Ala631Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala644Thr Single submitter primary ciliary dyskinesia ⚠
- p.Arg117Cys Single submitter primary ciliary dyskinesia 21 ⚠
- p.Arg117His Single submitter primary ciliary dyskinesia ⚠
- p.Arg206Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg219His Single submitter Inborn genetic diseases ⚠
- p.Arg219Leu Single submitter Inborn genetic diseases ⚠
- p.Arg219Ser Single submitter Inborn genetic diseases ⚠
- p.Arg262Leu Single submitter Inborn genetic diseases ⚠
- p.Arg326Ser Single submitter Inborn genetic diseases ⚠
- p.Arg339Thr Single submitter Inborn genetic diseases ⚠
- p.Arg375Ser Single submitter primary ciliary dyskinesia ⚠
- p.Arg39Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg39Pro Single submitter primary ciliary dyskinesia 21 ⚠
- p.Arg40Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg421Ser Single submitter primary ciliary dyskinesia ⚠
- p.Arg50Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg52Leu Single submitter primary ciliary dyskinesia ⚠
- p.Arg557Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg640Lys Single submitter primary ciliary dyskinesia ⚠
- p.Arg643Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg647Ser Single submitter primary ciliary dyskinesia ⚠
- p.Arg736Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg80Gln Single submitter primary ciliary dyskinesia ⚠
- p.Asn274Thr Single submitter Inborn genetic diseases ⚠
- p.Asn2Ile Single submitter primary ciliary dyskinesia ⚠
- p.Asn548Ile Single submitter primary ciliary dyskinesia ⚠
- p.Asn708His Single submitter primary ciliary dyskinesia ⚠
- p.Asp132Glu Single submitter primary ciliary dyskinesia ⚠
- p.Asp280Asn Single submitter Inborn genetic diseases ⚠
- p.Asp294Asn Single submitter Inborn genetic diseases ⚠
- p.Asp30Asn Single submitter Inborn genetic diseases ⚠
- p.Asp346Ala Single submitter Inborn genetic diseases ⚠
- p.Asp346Asn Single submitter Inborn genetic diseases ⚠
- p.Asp501del Single submitter primary ciliary dyskinesia
- p.Asp529Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp542Val Single submitter Inborn genetic diseases ⚠
- p.Asp60Asn Single submitter primary ciliary dyskinesia ⚠
- p.Cys523Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln188Arg Single submitter ⚠
- p.Gln361Pro Single submitter primary ciliary dyskinesia ⚠
- p.Gln367Leu Single submitter Inborn genetic diseases ⚠
- p.Gln384Pro Single submitter primary ciliary dyskinesia ⚠
- p.Gln456Lys Single submitter primary ciliary dyskinesia ⚠
- p.Gln520His Single submitter primary ciliary dyskinesia ⚠
- p.Gln520Pro Single submitter primary ciliary dyskinesia ⚠
- p.Gln649Pro Single submitter primary ciliary dyskinesia ⚠
- p.Gln712Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gln712Ter Single submitter primary ciliary dyskinesia
- p.Gln717His Single submitter Inborn genetic diseases ⚠
- p.Gln728Leu Single submitter primary ciliary dyskinesia ⚠
- p.Glu16Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu177Lys Single submitter Inborn genetic diseases ⚠
- p.Glu221Gln Single submitter primary ciliary dyskinesia ⚠
- p.Glu221Lys Single submitter Inborn genetic diseases ⚠
- p.Glu267Gln Single submitter ⚠
- p.Glu365del Single submitter primary ciliary dyskinesia
- p.Glu406Gly Single submitter primary ciliary dyskinesia ⚠
- p.Glu407Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu478Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu508Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu538Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu57Gln Single submitter primary ciliary dyskinesia ⚠
- p.Glu606del Single submitter primary ciliary dyskinesia
- p.Glu609Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu700Gly Single submitter primary ciliary dyskinesia ⚠
- p.Glu705Asp Single submitter Inborn genetic diseases ⚠
- p.Glu92Gly Single submitter Inborn genetic diseases ⚠
- p.Gly429Glu Single submitter primary ciliary dyskinesia ⚠
- p.Gly504Glu Single submitter primary ciliary dyskinesia ⚠
- p.Gly504Val Single submitter primary ciliary dyskinesia
- p.Gly596Val Single submitter Inborn genetic diseases ⚠
- p.Gly5Glu Single submitter primary ciliary dyskinesia ⚠
- p.Gly605Arg Single submitter Inborn genetic diseases ⚠
- p.His107Arg Single submitter primary ciliary dyskinesia ⚠
- p.His17Asn Single submitter Inborn genetic diseases ⚠
- p.His28Arg Single submitter Inborn genetic diseases ⚠
- p.His28Pro Single submitter Inborn genetic diseases ⚠
- p.His426Arg Single submitter ⚠
- p.Ile101Val Single submitter Inborn genetic diseases ⚠
- p.Ile103Asn Single submitter Inborn genetic diseases ⚠
- p.Ile120Phe Single submitter Inborn genetic diseases ⚠
- p.Ile137Val Single submitter primary ciliary dyskinesia ⚠
- p.Ile175Leu Single submitter Inborn genetic diseases ⚠
- p.Ile225Asn Single submitter primary ciliary dyskinesia ⚠
- p.Ile225Thr Single submitter Inborn genetic diseases ⚠
- p.Ile289Thr Single submitter Inborn genetic diseases ⚠
- p.Ile347Arg Single submitter primary ciliary dyskinesia ⚠
- p.Ile36_Arg40dup Single submitter primary ciliary dyskinesia
- p.Ile422Val Single submitter primary ciliary dyskinesia ⚠
- p.Ile446Met Single submitter primary ciliary dyskinesia ⚠
- p.Ile457Leu Single submitter primary ciliary dyskinesia ⚠
- p.Ile495Asn Single submitter Inborn genetic diseases ⚠
- p.Leu483Ser Single submitter primary ciliary dyskinesia ⚠
- p.Leu496Arg Single submitter primary ciliary dyskinesia ⚠
- p.Leu514Phe Single submitter primary ciliary dyskinesia ⚠
- p.Leu543Ser Single submitter Inborn genetic diseases ⚠
- p.Leu551Phe Single submitter Inborn genetic diseases ⚠
- p.Leu55His Single submitter Inborn genetic diseases ⚠
- p.Leu562Phe Single submitter primary ciliary dyskinesia ⚠
- p.Leu714Ile Single submitter primary ciliary dyskinesia ⚠
- p.Lys140Gln Single submitter primary ciliary dyskinesia ⚠
- p.Lys171del Single submitter primary ciliary dyskinesia
- p.Lys191Arg Single submitter Inborn genetic diseases ⚠
- p.Lys194Glu Single submitter Inborn genetic diseases ⚠
- p.Lys212Gln Single submitter Inborn genetic diseases ⚠
- p.Lys264Thr Single submitter Inborn genetic diseases ⚠
- p.Lys265Gln Single submitter primary ciliary dyskinesia ⚠
- p.Lys338Arg Single submitter Inborn genetic diseases ⚠
- p.Lys686Glu Single submitter primary ciliary dyskinesia ⚠
- p.Lys74Gln Single submitter primary ciliary dyskinesia ⚠
- p.Met387Arg Single submitter primary ciliary dyskinesia ⚠
- p.Met634Val Single submitter primary ciliary dyskinesia ⚠
- p.Phe229Ser Single submitter primary ciliary dyskinesia ⚠
- p.Phe549Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro3Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro435Ser Single submitter Inborn genetic diseases ⚠
- p.Pro450Leu Single submitter ⚠
- p.Pro450Thr Single submitter primary ciliary dyskinesia ⚠
- p.Pro484Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro4Ser Single submitter Inborn genetic diseases ⚠
- p.Pro517Ser Single submitter Inborn genetic diseases ⚠
- p.Pro614Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro645Leu Single submitter Inborn genetic diseases ⚠
- p.Ser176= Single submitter primary ciliary dyskinesia
- p.Ser26Trp Single submitter primary ciliary dyskinesia ⚠
- p.Ser371Leu Single submitter primary ciliary dyskinesia ⚠
- p.Ser447Ala Single submitter Inborn genetic diseases ⚠
- p.Ser465Leu Single submitter primary ciliary dyskinesia ⚠
- p.Ser503= Single submitter primary ciliary dyskinesia
- p.Ser503Leu Single submitter primary ciliary dyskinesia ⚠
- p.Ser533= Single submitter primary ciliary dyskinesia
- p.Ser560Phe Single submitter primary ciliary dyskinesia ⚠
- p.Ser601Arg Single submitter primary ciliary dyskinesia ⚠
- p.Ser656Phe Single submitter primary ciliary dyskinesia ⚠
- p.Ser672Pro Single submitter primary ciliary dyskinesia ⚠
- p.Thr138Ile Single submitter Inborn genetic diseases ⚠
- p.Thr370Ile Single submitter Inborn genetic diseases ⚠
- p.Thr580Lys Single submitter primary ciliary dyskinesia ⚠
- p.Thr682Ala Single submitter primary ciliary dyskinesia ⚠
- p.Thr682Ile Single submitter primary ciliary dyskinesia ⚠
- p.Thr709Ile Single submitter primary ciliary dyskinesia ⚠
- p.Thr739Lys Single submitter ⚠
- p.Trp154Arg Single submitter primary ciliary dyskinesia ⚠
- p.Trp399Gln Single submitter primary ciliary dyskinesia
- p.Trp402Cys Single submitter primary ciliary dyskinesia ⚠
- p.Tyr544Cys Single submitter primary ciliary dyskinesia ⚠
- p.Tyr73Cys Single submitter primary ciliary dyskinesia ⚠
- p.Val127Phe Single submitter primary ciliary dyskinesia ⚠
- p.Val211Met Single submitter Inborn genetic diseases ⚠
- p.Val458Ile Single submitter primary ciliary dyskinesia ⚠
- p.Val633Ile Single submitter primary ciliary dyskinesia ⚠
- p.Val652Gly Single submitter primary ciliary dyskinesia ⚠
- p.Val690Ile Single submitter primary ciliary dyskinesia ⚠