DRC4 — 384 ClinVar variants
All ClinVar germline DRC4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 138 flagged for review →
12 Pathogenic · 7 Likely pathogenic · 8 Conflicting · 50 Benign · 3 Benign/Likely benign · 170 Likely benign · 134 Uncertain significance
Full DRC4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 138
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 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DRC4 p.Arg404His
Conflicting
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Gly217Ser
Conflicting
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Leu106Val
Conflicting
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Leu394Gln
Conflicting
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Lys74Asn
Conflicting
Single submitter
primary ciliary dyskinesia 33
Predictors lean, ClinVar uncertain 63
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DRC4 p.Ala280Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC4 p.Ala460Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC4 p.Arg203Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC4 p.Asn244Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 33
-
DRC4 p.Asp239Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC4 p.Asp263Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 33
-
DRC4 p.Asp419Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 33
-
DRC4 p.Ile185Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC4 p.Lys304Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC4 p.Met84Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 33
-
DRC4 p.Ser412Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 33
-
DRC4 p.Ala22Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Ala270Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Ala351Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Ala376Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Ala471Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Ala471Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Arg132His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC4 p.Arg143Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Arg164Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Arg225His
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Arg278Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Arg313His
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Arg313Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Arg334Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC4 p.Arg342Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Arg404Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Arg46Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC4 p.Arg68Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Asn111His
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Asn112Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Asn386Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC4 p.Gln294Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC4 p.Glu382Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Glu387Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Glu86Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Gly361Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Gly475Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.His91Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Ile59Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC4 p.Ile95Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC4 p.Leu251Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Leu401Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
- DRC4 p.Leu42Pro Uncertain significance Single submitter
-
DRC4 p.Lys295Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC4 p.Lys322Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Lys73Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC4 p.Lys74Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC4 p.Lys74Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC4 p.Pro16Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Pro23Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Pro470Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Ser156Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Ser415Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Thr231Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Thr241Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Thr465Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Thr476Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Tyr237Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Val159Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC4 p.Val211Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Val211Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Val366Met
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
Predictors split 70
The independent predictors disagree with each other — read with care.
-
DRC4 p.Arg143Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 33
-
DRC4 p.Arg164Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 33
-
DRC4 p.Arg259Gln
Benign
Multiple submitters
primary ciliary dyskinesia 33
-
DRC4 p.Arg278Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC4 p.Arg278His
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia 33
-
DRC4 p.Arg342Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 33
-
DRC4 p.Arg369Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC4 p.Arg369His
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia 33
-
DRC4 p.Arg436Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 33
-
DRC4 p.Arg44His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 33
-
DRC4 p.Arg78Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 33
-
DRC4 p.Arg82Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 33
-
DRC4 p.Glu199Lys
Benign
Multiple submitters
primary ciliary dyskinesia 33
-
DRC4 p.Glu355Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 33
-
DRC4 p.Glu88Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 33
-
DRC4 p.Gly446Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 33
-
DRC4 p.Gly467Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC4 p.Leu345Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 33
-
DRC4 p.Lys13Arg
Benign
Multiple submitters
primary ciliary dyskinesia 33
-
DRC4 p.Tyr346Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRC4 p.Ala270Pro
Conflicting
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Ala390Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Ala391Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Arg132Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC4 p.Arg139Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Arg139His
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Arg175Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Arg287Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC4 p.Arg342Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC4 p.Arg347Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Arg37Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC4 p.Arg404Cys
Likely benign
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Arg436His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC4 p.Arg46Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Arg46Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC4 p.Arg67Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Arg90Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Asn238Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Asp201Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Asp239Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Asp281His
Conflicting
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Gln354Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Gln69Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Glu135Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC4 p.Glu184Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
- DRC4 p.Glu186Asp Uncertain significance Single submitter
-
DRC4 p.Glu210Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Glu227Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Glu29Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Glu301Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Glu344Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC4 p.Glu368Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Glu83Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Gly463Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Gly463Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Leu283Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Leu54Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Lys11Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Lys381Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Lys429Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRC4 p.Lys6Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Met84Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Ser27Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Thr400Met
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
- DRC4 p.Thr465Ile Likely benign Single submitter
-
DRC4 p.Val427Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Val452Met
Conflicting
Single submitter
Inborn genetic diseases
-
DRC4 p.Val97Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
DRC4 p.Val97Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
- DRC4 p.Asn276Lys Uncertain significance No assertion criteria
All DRC4 variants
Pathogenic 12
- p.Gln357Ter Multiple submitters GAS8-related disorder
- p.Arg183Ter Single submitter primary ciliary dyskinesia 33
- p.Arg334Ter Single submitter primary ciliary dyskinesia 33
- p.Arg369fs Single submitter primary ciliary dyskinesia 33
- p.Arg49Ter Single submitter primary ciliary dyskinesia 33
- p.Gln296fs Single submitter primary ciliary dyskinesia 33
- p.Gln296Ter Single submitter primary ciliary dyskinesia 33
- p.Glu266Ter Single submitter primary ciliary dyskinesia 33
- p.Glu33Ter Single submitter primary ciliary dyskinesia 33
- p.Glu94fs Single submitter primary ciliary dyskinesia 33
- p.Ile240fs Single submitter primary ciliary dyskinesia 33
- p.Trp63Ter Single submitter primary ciliary dyskinesia 33
Likely pathogenic 7
- c.495+1G>T Multiple submitters primary ciliary dyskinesia 33
- c.1011+1G>T Single submitter primary ciliary dyskinesia 33
- c.1011+2T>C Single submitter primary ciliary dyskinesia 33
- c.1221+1G>T Single submitter primary ciliary dyskinesia 33
- c.495+1G>A Single submitter primary ciliary dyskinesia 33
- c.757-1G>C Single submitter primary ciliary dyskinesia 33
- c.924+2_924+3del Single submitter primary ciliary dyskinesia 33
Conflicting classifications of pathogenicity 8
- p.Ala270Pro Single submitter primary ciliary dyskinesia 33 ⚠
- p.Arg404His Single submitter primary ciliary dyskinesia 33 ⚠
- p.Asp281His Single submitter primary ciliary dyskinesia 33 ⚠
- p.Gly217Ser Single submitter primary ciliary dyskinesia 33 ⚠
- p.Leu106Val Single submitter primary ciliary dyskinesia 33 ⚠
- p.Leu394Gln Single submitter primary ciliary dyskinesia 33 ⚠
- p.Lys74Asn Single submitter primary ciliary dyskinesia 33 ⚠
- p.Val452Met Single submitter Inborn genetic diseases ⚠
Benign 50
- c.1012-183T>C Multiple submitters
- c.1012-296G>C Multiple submitters
- c.1222-46C>T Multiple submitters
- c.1288-232C>T Multiple submitters
- c.288+75A>G Multiple submitters
- c.289-65C>T Multiple submitters
- c.3+175C>T Multiple submitters
- c.3+181C>T Multiple submitters
- c.3+331C>G Multiple submitters
- c.4-75T>C Multiple submitters
- c.495+16G>A Multiple submitters primary ciliary dyskinesia 33
- c.550+289C>A Multiple submitters
- c.756+123G>A Multiple submitters
- c.756+252C>G Multiple submitters
- c.756+41G>A Multiple submitters
- c.756+93C>T Multiple submitters
- c.757-132C>G Multiple submitters
- c.757-189C>T Multiple submitters
- c.90+39G>A Multiple submitters
- c.90+65A>G Multiple submitters
- c.90+84C>T Multiple submitters
- c.925-151G>A Multiple submitters
- c.-73+2728C>G Multiple submitters
- c.-7T>G Multiple submitters primary ciliary dyskinesia 33
- p.Arg259Gln Multiple submitters primary ciliary dyskinesia 33 ⚠
- p.Arg44= Multiple submitters primary ciliary dyskinesia 33
- p.Glu199= Multiple submitters primary ciliary dyskinesia 33
- p.Glu199Lys Multiple submitters primary ciliary dyskinesia 33 ⚠
- p.Lys13Arg Multiple submitters primary ciliary dyskinesia 33 ⚠
- p.Thr350= Multiple submitters primary ciliary dyskinesia 33
- c.1221+126A>G Single submitter
- c.1221+128G>C Single submitter
- c.1287+135G>A Single submitter
- c.1287+201A>G Single submitter
- c.288+144G>A Single submitter
- c.289-12A>G Single submitter primary ciliary dyskinesia 33
- c.289-298G>C Single submitter
- c.3+13G>A Single submitter primary ciliary dyskinesia 33
- c.495+146A>T Single submitter
- c.496-214C>T Single submitter
- c.550+10C>T Single submitter primary ciliary dyskinesia 33
- c.90+1543C>T Single submitter
- c.91-449G>A Single submitter
- c.-73+2611G>A Single submitter
- p.Asn386= Single submitter primary ciliary dyskinesia 33
- p.Asp343= Single submitter primary ciliary dyskinesia 33
- p.Pro396= Single submitter primary ciliary dyskinesia 33
- p.Ser136Thr Single submitter primary ciliary dyskinesia 33
- p.Val159Glu Single submitter primary ciliary dyskinesia 33
- p.Val272= Single submitter primary ciliary dyskinesia 33
Benign/Likely benign 3
- p.Arg278His Multiple submitters primary ciliary dyskinesia 33 ⚠
- p.Arg369His Multiple submitters primary ciliary dyskinesia 33 ⚠
- p.Arg82Gln Multiple submitters primary ciliary dyskinesia 33
Likely benign 170
- c.1221+4G>A Multiple submitters primary ciliary dyskinesia 33
- c.1287+39C>T Multiple submitters
- c.1287+44C>T Multiple submitters
- c.90+11C>T Multiple submitters primary ciliary dyskinesia 33
- c.91-35C>A Multiple submitters
- p.Arg49= Multiple submitters primary ciliary dyskinesia 33
- p.Gln358Arg Multiple submitters primary ciliary dyskinesia 33
- p.Tyr300= Multiple submitters primary ciliary dyskinesia 33
- p.Val93Met Multiple submitters primary ciliary dyskinesia 33
- c.1011+14C>T Single submitter primary ciliary dyskinesia 33
- c.1011+15G>A Single submitter primary ciliary dyskinesia 33
- c.1011+19G>T Single submitter primary ciliary dyskinesia 33
- c.1011+7G>C Single submitter primary ciliary dyskinesia 33
- c.1012-13G>A Single submitter primary ciliary dyskinesia 33
- c.1012-14C>T Single submitter primary ciliary dyskinesia 33
- c.1012-20C>T Single submitter primary ciliary dyskinesia 33
- c.1012-4A>G Single submitter primary ciliary dyskinesia 33
- c.1012-55C>T Single submitter
- c.1012-8C>T Single submitter primary ciliary dyskinesia 33
- c.1012-9T>C Single submitter primary ciliary dyskinesia 33
- c.1221+10A>G Single submitter primary ciliary dyskinesia 33
- c.1221+19C>G Single submitter primary ciliary dyskinesia 33
- c.1221+19C>T Single submitter primary ciliary dyskinesia 33
- c.1222-13T>G Single submitter primary ciliary dyskinesia 33
- c.1222-20C>T Single submitter primary ciliary dyskinesia 33
- c.1287+10T>A Single submitter primary ciliary dyskinesia 33
- c.1287+14_1287+15dup Single submitter primary ciliary dyskinesia 33
- c.1287+20T>C Single submitter primary ciliary dyskinesia 33
- c.1287+280C>G Single submitter
- c.1288-13C>T Single submitter primary ciliary dyskinesia 33
- c.1288-14C>T Single submitter primary ciliary dyskinesia 33
- c.1288-4A>G Single submitter primary ciliary dyskinesia 33
- c.288+12C>T Single submitter primary ciliary dyskinesia 33
- c.288+13G>A Single submitter primary ciliary dyskinesia 33
- c.289-17C>T Single submitter primary ciliary dyskinesia 33
- c.289-230C>T Single submitter
- c.289-6C>T Single submitter primary ciliary dyskinesia 33
- c.289-92C>T Single submitter
- c.289-9G>A Single submitter primary ciliary dyskinesia 33
- c.3+11G>C Single submitter primary ciliary dyskinesia 33
- c.3+12C>A Single submitter primary ciliary dyskinesia 33
- c.3+236C>T Single submitter
- c.3+7_3+12del Single submitter primary ciliary dyskinesia 33
- c.4-16A>G Single submitter primary ciliary dyskinesia 33
- c.4-18C>G Single submitter primary ciliary dyskinesia 33
- c.4-20C>T Single submitter primary ciliary dyskinesia 33
- c.4-7A>C Single submitter primary ciliary dyskinesia 33
- c.495+12G>A Single submitter primary ciliary dyskinesia 33
- c.495+13G>A Single submitter primary ciliary dyskinesia 33
- c.495+44C>T Single submitter
- c.495+8T>G Single submitter primary ciliary dyskinesia 33
- c.496-12C>T Single submitter primary ciliary dyskinesia 33
- c.496-16G>A Single submitter primary ciliary dyskinesia 33
- c.496-16G>T Single submitter primary ciliary dyskinesia 33
- c.496-17C>G Single submitter primary ciliary dyskinesia 33
- c.496-18C>T Single submitter primary ciliary dyskinesia 33
- c.550+11C>T Single submitter primary ciliary dyskinesia 33
- c.550+12G>A Single submitter primary ciliary dyskinesia 33
- c.550+18T>C Single submitter primary ciliary dyskinesia 33
- c.551-11C>T Single submitter primary ciliary dyskinesia 33
- c.551-14C>G Single submitter primary ciliary dyskinesia 33
- c.756+10G>A Single submitter primary ciliary dyskinesia 33
- c.756+19G>T Single submitter primary ciliary dyskinesia 33
- c.756+7T>C Single submitter primary ciliary dyskinesia 33
- c.756+9C>T Single submitter primary ciliary dyskinesia 33
- c.757-20G>T Single submitter primary ciliary dyskinesia 33
- c.757-8_757-3dup Single submitter primary ciliary dyskinesia 33
- c.757-8G>A Single submitter primary ciliary dyskinesia 33
- c.90+11C>G Single submitter primary ciliary dyskinesia 33
- c.90+12G>A Single submitter primary ciliary dyskinesia 33
- c.90+13G>A Single submitter primary ciliary dyskinesia 33
- c.90+18T>C Single submitter primary ciliary dyskinesia 33
- c.91-15A>G Single submitter primary ciliary dyskinesia 33
- c.91-17C>G Single submitter primary ciliary dyskinesia 33
- c.91-20G>C Single submitter primary ciliary dyskinesia 33
- c.91-8C>A Single submitter primary ciliary dyskinesia 33
- c.91-9C>A Single submitter primary ciliary dyskinesia 33
- c.924+11C>T Single submitter primary ciliary dyskinesia 33
- c.924+12G>A Single submitter primary ciliary dyskinesia 33
- c.924+20C>G Single submitter primary ciliary dyskinesia 33
- c.925-16C>T Single submitter primary ciliary dyskinesia 33
- c.925-8T>C Single submitter primary ciliary dyskinesia 33
- p.Ala298= Single submitter primary ciliary dyskinesia 33
- p.Ala312= Single submitter primary ciliary dyskinesia 33
- p.Ala373Val Single submitter primary ciliary dyskinesia 33
- p.Ala376= Single submitter primary ciliary dyskinesia 33
- p.Ala377= Single submitter primary ciliary dyskinesia 33
- p.Ala425= Single submitter primary ciliary dyskinesia 33
- p.Ala430= Single submitter primary ciliary dyskinesia 33
- p.Ala444= Single submitter primary ciliary dyskinesia 33
- p.Ala471= Single submitter primary ciliary dyskinesia 33
- p.Ala87= Single submitter primary ciliary dyskinesia 33
- p.Arg164= Single submitter primary ciliary dyskinesia 33
- p.Arg203= Single submitter primary ciliary dyskinesia 33
- p.Arg259= Single submitter primary ciliary dyskinesia 33
- p.Arg302= Single submitter primary ciliary dyskinesia 33
- p.Arg334= Single submitter primary ciliary dyskinesia 33
- p.Arg342= Single submitter primary ciliary dyskinesia 33
- p.Arg347Gln Single submitter Inborn genetic diseases
- p.Arg39= Single submitter primary ciliary dyskinesia 33
- p.Arg404Cys Single submitter primary ciliary dyskinesia 33 ⚠
- p.Arg68= Single submitter primary ciliary dyskinesia 33
- p.Arg82= Single submitter primary ciliary dyskinesia 33
- p.Asn162= Single submitter primary ciliary dyskinesia 33
- p.Asn238= Single submitter primary ciliary dyskinesia 33
- p.Asn243= Single submitter primary ciliary dyskinesia 33
- p.Asn276= Single submitter primary ciliary dyskinesia 33
- p.Asn364= Single submitter primary ciliary dyskinesia 33
- p.Asn432= Single submitter primary ciliary dyskinesia 33
- p.Asn451= Single submitter primary ciliary dyskinesia 33
- p.Asp190= Single submitter primary ciliary dyskinesia 33
- p.Asp239= Single submitter primary ciliary dyskinesia 33
- p.Cys309= Single submitter primary ciliary dyskinesia 33
- p.Cys428= Single submitter primary ciliary dyskinesia 33
- p.Gln218= Single submitter primary ciliary dyskinesia 33
- p.Gln325= Single submitter primary ciliary dyskinesia 33
- p.Glu119= Single submitter primary ciliary dyskinesia 33
- p.Glu135= Single submitter primary ciliary dyskinesia 33
- p.Glu207= Single submitter primary ciliary dyskinesia 33
- p.Glu228= Single submitter primary ciliary dyskinesia 33
- p.Glu329= Single submitter primary ciliary dyskinesia 33
- p.Glu41= Single submitter primary ciliary dyskinesia 33
- p.Gly14= Single submitter primary ciliary dyskinesia 33
- p.Gly20= Single submitter
- p.Gly446= Single submitter primary ciliary dyskinesia 33
- p.Gly475= Single submitter primary ciliary dyskinesia 33
- p.His131= Single submitter primary ciliary dyskinesia 33
- p.His209= Single submitter primary ciliary dyskinesia 33
- p.His226= Single submitter primary ciliary dyskinesia 33
- p.Ile248= Single submitter primary ciliary dyskinesia 33
- p.Leu105= Single submitter primary ciliary dyskinesia 33
- p.Leu106= Single submitter primary ciliary dyskinesia 33
- p.Leu200= Single submitter primary ciliary dyskinesia 33
- p.Leu21= Single submitter primary ciliary dyskinesia 33
- p.Leu247= Single submitter primary ciliary dyskinesia 33
- p.Leu307= Single submitter primary ciliary dyskinesia 33
- p.Leu365= Single submitter primary ciliary dyskinesia 33
- p.Leu367= Single submitter primary ciliary dyskinesia 33
- p.Leu374= Single submitter primary ciliary dyskinesia 33
- p.Leu406= Single submitter primary ciliary dyskinesia 33
- p.Leu434= Single submitter primary ciliary dyskinesia 33
- p.Lys101= Single submitter primary ciliary dyskinesia 33
- p.Lys129= Single submitter primary ciliary dyskinesia 33
- p.Lys359= Single submitter primary ciliary dyskinesia 33
- p.Lys455= Single submitter primary ciliary dyskinesia 33
- p.Phe362= Single submitter primary ciliary dyskinesia 33
- p.Phe445= Single submitter primary ciliary dyskinesia 33
- p.Pro23= Single submitter primary ciliary dyskinesia 33
- p.Pro470= Single submitter primary ciliary dyskinesia 33
- p.Pro477= Single submitter primary ciliary dyskinesia 33
- p.Ser291= Single submitter primary ciliary dyskinesia 33
- p.Ser375= Single submitter primary ciliary dyskinesia 33
- p.Ser412= Single submitter primary ciliary dyskinesia 33
- p.Thr15= Single submitter primary ciliary dyskinesia 33
- p.Thr168= Single submitter primary ciliary dyskinesia 33
- p.Thr221= Single submitter primary ciliary dyskinesia 33
- p.Thr231= Single submitter primary ciliary dyskinesia 33
- p.Thr241= Single submitter primary ciliary dyskinesia 33
- p.Thr416= Single submitter primary ciliary dyskinesia 33
- p.Thr437= Single submitter primary ciliary dyskinesia 33
- p.Thr465= Single submitter primary ciliary dyskinesia 33
- p.Thr465Ile Single submitter ⚠
- p.Thr465Met Single submitter primary ciliary dyskinesia 33
- p.Thr478= Single submitter primary ciliary dyskinesia 33
- p.Tyr51= Single submitter
- p.Val160= Single submitter primary ciliary dyskinesia 33
- p.Val18= Single submitter primary ciliary dyskinesia 33
- p.Val35= Single submitter primary ciliary dyskinesia 33
- c.*8C>G No assertion criteria GAS8-related disorder
- p.Glu423= No assertion criteria GAS8-related disorder
Uncertain significance 134
- p.Ala280Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala460Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg143Trp Multiple submitters primary ciliary dyskinesia 33 ⚠
- p.Arg164Trp Multiple submitters primary ciliary dyskinesia 33 ⚠
- p.Arg203Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg278Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg342Trp Multiple submitters primary ciliary dyskinesia 33 ⚠
- p.Arg369Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg436Cys Multiple submitters primary ciliary dyskinesia 33 ⚠
- p.Arg44His Multiple submitters primary ciliary dyskinesia 33 ⚠
- p.Arg78Trp Multiple submitters primary ciliary dyskinesia 33 ⚠
- p.Arg82Trp Multiple submitters primary ciliary dyskinesia 33 ⚠
- p.Asn244Asp Multiple submitters primary ciliary dyskinesia 33 ⚠
- p.Asp239Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Asp263Glu Multiple submitters primary ciliary dyskinesia 33 ⚠
- p.Asp419Asn Multiple submitters primary ciliary dyskinesia 33 ⚠
- p.Glu355Val Multiple submitters primary ciliary dyskinesia 33 ⚠
- p.Glu88Lys Multiple submitters primary ciliary dyskinesia 33 ⚠
- p.Gly446Arg Multiple submitters primary ciliary dyskinesia 33 ⚠
- p.Gly467Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ile185Thr Multiple submitters Inborn genetic diseases ⚠
- p.Leu345Arg Multiple submitters primary ciliary dyskinesia 33 ⚠
- p.Lys304Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met84Leu Multiple submitters primary ciliary dyskinesia 33 ⚠
- p.Ser412Leu Multiple submitters primary ciliary dyskinesia 33 ⚠
- p.Tyr346Cys Multiple submitters Inborn genetic diseases ⚠
- c.1221+6C>T Single submitter primary ciliary dyskinesia 33
- c.289-3C>T Single submitter primary ciliary dyskinesia 33
- c.3+6C>T Single submitter primary ciliary dyskinesia 33
- c.551-16T>A Single submitter primary ciliary dyskinesia 33
- c.925-2A>C Single submitter primary ciliary dyskinesia 33
- p.Ala22Thr Single submitter primary ciliary dyskinesia 33 ⚠
- p.Ala270Val Single submitter primary ciliary dyskinesia 33 ⚠
- p.Ala351Thr Single submitter primary ciliary dyskinesia 33 ⚠
- p.Ala376Thr Single submitter primary ciliary dyskinesia 33 ⚠
- p.Ala390Asp Single submitter primary ciliary dyskinesia 33 ⚠
- p.Ala391Val Single submitter primary ciliary dyskinesia 33 ⚠
- p.Ala471Thr Single submitter primary ciliary dyskinesia 33 ⚠
- p.Ala471Val Single submitter primary ciliary dyskinesia 33 ⚠
- p.Arg132Cys Single submitter Inborn genetic diseases ⚠
- p.Arg132His Single submitter Inborn genetic diseases ⚠
- p.Arg139Cys Single submitter primary ciliary dyskinesia 33 ⚠
- p.Arg139His Single submitter primary ciliary dyskinesia 33 ⚠
- p.Arg143Gln Single submitter primary ciliary dyskinesia 33 ⚠
- p.Arg164Gln Single submitter primary ciliary dyskinesia 33 ⚠
- p.Arg175Trp Single submitter primary ciliary dyskinesia 33 ⚠
- p.Arg183= Single submitter primary ciliary dyskinesia 33
- p.Arg225His Single submitter primary ciliary dyskinesia 33 ⚠
- p.Arg278Leu Single submitter primary ciliary dyskinesia 33 ⚠
- p.Arg287Trp Single submitter Inborn genetic diseases ⚠
- p.Arg313His Single submitter primary ciliary dyskinesia 33 ⚠
- p.Arg313Ser Single submitter primary ciliary dyskinesia 33 ⚠
- p.Arg334Gln Single submitter Inborn genetic diseases ⚠
- p.Arg342Gln Single submitter Inborn genetic diseases ⚠
- p.Arg342Pro Single submitter primary ciliary dyskinesia 33 ⚠
- p.Arg347Trp Single submitter primary ciliary dyskinesia 33 ⚠
- p.Arg37Cys Single submitter Inborn genetic diseases ⚠
- p.Arg404Gly Single submitter primary ciliary dyskinesia 33 ⚠
- p.Arg436His Single submitter Inborn genetic diseases ⚠
- p.Arg46Gln Single submitter primary ciliary dyskinesia 33 ⚠
- p.Arg46Leu Single submitter Inborn genetic diseases ⚠
- p.Arg46Trp Single submitter Inborn genetic diseases ⚠
- p.Arg67Trp Single submitter primary ciliary dyskinesia 33 ⚠
- p.Arg68Ser Single submitter primary ciliary dyskinesia 33 ⚠
- p.Arg90Ser Single submitter primary ciliary dyskinesia 33 ⚠
- p.Asn111His Single submitter primary ciliary dyskinesia 33 ⚠
- p.Asn112Lys Single submitter primary ciliary dyskinesia 33 ⚠
- p.Asn238Asp Single submitter primary ciliary dyskinesia 33 ⚠
- p.Asn386Ser Single submitter Inborn genetic diseases ⚠
- p.Asp201Asn Single submitter primary ciliary dyskinesia 33 ⚠
- p.Asp239Asn Single submitter primary ciliary dyskinesia 33 ⚠
- p.Gln294Arg Single submitter Inborn genetic diseases ⚠
- p.Gln333= Single submitter
- p.Gln354Arg Single submitter primary ciliary dyskinesia 33 ⚠
- p.Gln464Ter Single submitter primary ciliary dyskinesia 33
- p.Gln69Arg Single submitter primary ciliary dyskinesia 33 ⚠
- p.Glu135Asp Single submitter Inborn genetic diseases ⚠
- p.Glu184Ala Single submitter primary ciliary dyskinesia 33 ⚠
- p.Glu186Asp Single submitter ⚠
- p.Glu210Lys Single submitter primary ciliary dyskinesia 33 ⚠
- p.Glu227Lys Single submitter primary ciliary dyskinesia 33 ⚠
- p.Glu29Lys Single submitter primary ciliary dyskinesia 33 ⚠
- p.Glu301Lys Single submitter primary ciliary dyskinesia 33 ⚠
- p.Glu344Lys Single submitter Inborn genetic diseases ⚠
- p.Glu368Asp Single submitter primary ciliary dyskinesia 33 ⚠
- p.Glu382Asp Single submitter primary ciliary dyskinesia 33 ⚠
- p.Glu387Lys Single submitter primary ciliary dyskinesia 33 ⚠
- p.Glu83Lys Single submitter primary ciliary dyskinesia 33 ⚠
- p.Glu86Asp Single submitter primary ciliary dyskinesia 33 ⚠
- p.Gly361Ala Single submitter primary ciliary dyskinesia 33 ⚠
- p.Gly463Ala Single submitter primary ciliary dyskinesia 33 ⚠
- p.Gly463Arg Single submitter primary ciliary dyskinesia 33 ⚠
- p.Gly475Val Single submitter primary ciliary dyskinesia 33 ⚠
- p.His131_Glu153del Single submitter primary ciliary dyskinesia 33
- p.His91Asn Single submitter primary ciliary dyskinesia 33 ⚠
- p.Ile59Phe Single submitter Inborn genetic diseases ⚠
- p.Ile95Met Single submitter Inborn genetic diseases ⚠
- p.Leu251Phe Single submitter primary ciliary dyskinesia 33 ⚠
- p.Leu283Phe Single submitter primary ciliary dyskinesia 33 ⚠
- p.Leu401Val Single submitter primary ciliary dyskinesia 33 ⚠
- p.Leu42Pro Single submitter ⚠
- p.Leu54Val Single submitter primary ciliary dyskinesia 33 ⚠
- p.Lys11Glu Single submitter primary ciliary dyskinesia 33 ⚠
- p.Lys295Glu Single submitter Inborn genetic diseases ⚠
- p.Lys322Arg Single submitter primary ciliary dyskinesia 33 ⚠
- p.Lys381Glu Single submitter primary ciliary dyskinesia 33 ⚠
- p.Lys429Glu Single submitter Inborn genetic diseases ⚠
- p.Lys6Arg Single submitter primary ciliary dyskinesia 33 ⚠
- p.Lys73Glu Single submitter Inborn genetic diseases ⚠
- p.Lys74Ala Single submitter primary ciliary dyskinesia 33
- p.Lys74Glu Single submitter Inborn genetic diseases ⚠
- p.Lys74Thr Single submitter Inborn genetic diseases ⚠
- p.Met1Leu Single submitter primary ciliary dyskinesia 33
- p.Met84Thr Single submitter primary ciliary dyskinesia 33 ⚠
- p.Pro16Ala Single submitter primary ciliary dyskinesia 33 ⚠
- p.Pro23Ala Single submitter primary ciliary dyskinesia 33 ⚠
- p.Pro470Leu Single submitter primary ciliary dyskinesia 33 ⚠
- p.Ser156Gly Single submitter primary ciliary dyskinesia 33 ⚠
- p.Ser27Arg Single submitter primary ciliary dyskinesia 33 ⚠
- p.Ser415Asn Single submitter primary ciliary dyskinesia 33 ⚠
- p.Thr231Ser Single submitter primary ciliary dyskinesia 33 ⚠
- p.Thr241Ile Single submitter primary ciliary dyskinesia 33 ⚠
- p.Thr400Met Single submitter primary ciliary dyskinesia 33 ⚠
- p.Thr465Arg Single submitter primary ciliary dyskinesia 33 ⚠
- p.Thr476Ile Single submitter primary ciliary dyskinesia 33 ⚠
- p.Tyr237Cys Single submitter primary ciliary dyskinesia 33 ⚠
- p.Val159Leu Single submitter Inborn genetic diseases ⚠
- p.Val211Ala Single submitter primary ciliary dyskinesia 33 ⚠
- p.Val211Leu Single submitter primary ciliary dyskinesia 33 ⚠
- p.Val366Met Single submitter primary ciliary dyskinesia 33 ⚠
- p.Val427Leu Single submitter primary ciliary dyskinesia 33 ⚠
- p.Val97Ala Single submitter primary ciliary dyskinesia 33 ⚠
- p.Val97Leu Single submitter primary ciliary dyskinesia 33 ⚠
- p.Asn276Lys No assertion criteria ⚠