DAW1 — 71 ClinVar variants
All ClinVar germline DAW1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
4 Pathogenic · 3 Likely pathogenic · 3 Benign · 7 Likely benign · 54 Uncertain significance
Full DAW1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
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 lean, ClinVar uncertain 38
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DAW1 p.Ala323Gly Uncertain significance Single submitter
- DAW1 p.Ala332Val Uncertain significance Single submitter
- DAW1 p.Ala374Val Uncertain significance Single submitter
- DAW1 p.Ala43Val Uncertain significance Single submitter
- DAW1 p.Arg415His Uncertain significance Single submitter
- DAW1 p.Asn144Ser Uncertain significance Single submitter
- DAW1 p.Asn270Ile Uncertain significance Single submitter
-
DAW1 p.Asp198Gly
Uncertain significance
Single submitter
ciliary dyskinesia, primary, 52
- DAW1 p.Asp312Asn Uncertain significance Single submitter
- DAW1 p.Asp324Ala Uncertain significance Single submitter
- DAW1 p.Asp324Glu Uncertain significance Single submitter
- DAW1 p.Cys182Phe Uncertain significance Single submitter
- DAW1 p.Cys295Arg Uncertain significance Single submitter
- DAW1 p.Glu210Lys Uncertain significance Single submitter
- DAW1 p.Gly132Ser Uncertain significance Single submitter
- DAW1 p.Gly23Glu Uncertain significance Single submitter
- DAW1 p.Gly279Asp Uncertain significance Single submitter
- DAW1 p.Gly399Asp Uncertain significance Single submitter
- DAW1 p.Gly75Asp Uncertain significance Single submitter
- DAW1 p.Gly75Ser Uncertain significance Single submitter
- DAW1 p.His171Arg Uncertain significance Single submitter
- DAW1 p.His176Asn Uncertain significance Single submitter
- DAW1 p.His241Tyr Uncertain significance Single submitter
- DAW1 p.Ile256Met Uncertain significance Single submitter
- DAW1 p.Ile30Val Uncertain significance Single submitter
- DAW1 p.Ile92Val Uncertain significance Single submitter
- DAW1 p.Leu161Ile Uncertain significance Single submitter
-
DAW1 p.Leu275Val
Uncertain significance
Single submitter
ciliary dyskinesia, primary, 52
- DAW1 p.Leu307Arg Uncertain significance Single submitter
- DAW1 p.Leu3His Uncertain significance Single submitter
- DAW1 p.Leu7Pro Uncertain significance Single submitter
- DAW1 p.Ser103Leu Uncertain significance Single submitter
- DAW1 p.Ser42Gly Uncertain significance Single submitter
- DAW1 p.Ser42Thr Uncertain significance Single submitter
- DAW1 p.Thr404Ile Uncertain significance Single submitter
- DAW1 p.Thr81Met Uncertain significance Single submitter
- DAW1 p.Trp204Cys Uncertain significance Single submitter
- DAW1 p.Val245Met Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- DAW1 p.Ala327Thr Uncertain significance Single submitter
- DAW1 p.Arg174Gly Uncertain significance Single submitter
- DAW1 p.Arg59Gln Uncertain significance Single submitter
- DAW1 p.Cys116Ser Uncertain significance Single submitter
- DAW1 p.Glu211Lys Uncertain significance Single submitter
- DAW1 p.Leu118Phe Uncertain significance Single submitter
- DAW1 p.Met197Val Uncertain significance Single submitter
- DAW1 p.Pro12Gln Uncertain significance Single submitter
- DAW1 p.Pro145Ser Uncertain significance Single submitter
- DAW1 p.Ser105Leu Uncertain significance Single submitter
- DAW1 p.Thr368Met Uncertain significance Single submitter
- DAW1 p.Val402Phe Uncertain significance Single submitter
-
DAW1 p.Asn143Asp
Pathogenic
No assertion criteria
ciliary dyskinesia, primary, 52
All DAW1 variants
Pathogenic 4
- p.Asn143Asp No assertion criteria ciliary dyskinesia, primary, 52 ⚠
- p.Leu66Ter No assertion criteria ciliary dyskinesia, primary, 52
- p.Trp119Ter No assertion criteria ciliary dyskinesia, primary, 52
- p.Trp372Cys No assertion criteria ciliary dyskinesia, primary, 52
Likely pathogenic 3
- c.859-2A>G Single submitter Fetal anomalies with a likely genetic cause
- p.Cys261fs Single submitter ciliary dyskinesia, primary, 52
- p.Ser364Thr Single submitter ciliary dyskinesia, primary, 52
Benign 3
- c.114-10T>A Single submitter
- c.541-9del Single submitter
- p.Leu7= Single submitter
Likely benign 7
- p.Ala122= Single submitter
- p.Arg216Thr Single submitter
- p.Gly124= Single submitter
- p.Ile329Val Single submitter
- p.Leu93= Single submitter
- p.Val244Ala Single submitter
- p.Ala51Thr No assertion criteria DAW1-related disorder
Uncertain significance 54
- p.Ala193Val Single submitter
- p.Ala201Thr Single submitter
- p.Ala323Gly Single submitter ⚠
- p.Ala327Thr Single submitter ⚠
- p.Ala332Val Single submitter ⚠
- p.Ala374Val Single submitter ⚠
- p.Ala43Val Single submitter ⚠
- p.Arg174Gly Single submitter ⚠
- p.Arg415His Single submitter ⚠
- p.Arg59Gln Single submitter ⚠
- p.Arg59Ter Single submitter ciliary dyskinesia, primary, 52
- p.Asn144Ser Single submitter ⚠
- p.Asn270Ile Single submitter ⚠
- p.Asp198Gly Single submitter ciliary dyskinesia, primary, 52 ⚠
- p.Asp312Asn Single submitter ⚠
- p.Asp324Ala Single submitter ⚠
- p.Asp324Glu Single submitter ⚠
- p.Cys116Ser Single submitter ⚠
- p.Cys182Phe Single submitter ⚠
- p.Cys295Arg Single submitter ⚠
- p.Glu210Lys Single submitter ⚠
- p.Glu211Lys Single submitter ⚠
- p.Gly132Ser Single submitter ⚠
- p.Gly23Glu Single submitter ⚠
- p.Gly279Asp Single submitter ⚠
- p.Gly399Asp Single submitter ⚠
- p.Gly75Asp Single submitter ⚠
- p.Gly75Ser Single submitter ⚠
- p.His171Arg Single submitter ⚠
- p.His176Asn Single submitter ⚠
- p.His241Tyr Single submitter ⚠
- p.Ile256Met Single submitter ⚠
- p.Ile30Val Single submitter ⚠
- p.Ile351Phe Single submitter ciliary dyskinesia, primary, 52
- p.Ile92Val Single submitter ⚠
- p.Leu118Phe Single submitter ⚠
- p.Leu161Ile Single submitter ⚠
- p.Leu275Val Single submitter ciliary dyskinesia, primary, 52 ⚠
- p.Leu307Arg Single submitter ⚠
- p.Leu3His Single submitter ⚠
- p.Leu7Pro Single submitter ⚠
- p.Met197Val Single submitter ⚠
- p.Pro12Gln Single submitter ⚠
- p.Pro145Ser Single submitter ⚠
- p.Ser103Leu Single submitter ⚠
- p.Ser105Leu Single submitter ⚠
- p.Ser42Gly Single submitter ⚠
- p.Ser42Thr Single submitter ⚠
- p.Thr368Met Single submitter ⚠
- p.Thr404Ile Single submitter ⚠
- p.Thr81Met Single submitter ⚠
- p.Trp204Cys Single submitter ⚠
- p.Val245Met Single submitter ⚠
- p.Val402Phe Single submitter ⚠