CLXN — 30 ClinVar variants
All ClinVar germline CLXN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
1 Pathogenic · 3 Likely pathogenic · 1 Likely benign · 25 Uncertain significance
Full CLXN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CLXN p.Arg74Gln Uncertain significance Single submitter
- CLXN p.Gly116Val Uncertain significance Single submitter
- CLXN p.Gly118Val Uncertain significance Single submitter
- CLXN p.Ile29Val Uncertain significance Single submitter
- CLXN p.Lys104Asn Uncertain significance Single submitter
- CLXN p.Lys147Arg Uncertain significance Single submitter
- CLXN p.Lys18Arg Uncertain significance Single submitter
- CLXN p.Met211Thr Uncertain significance Single submitter
- CLXN p.Met69Val Uncertain significance Single submitter
- CLXN p.Phe61Leu Uncertain significance Single submitter
- CLXN p.Ser193Cys Uncertain significance Single submitter
- CLXN p.Thr178Asn Uncertain significance Single submitter
- CLXN p.Thr60Ile Uncertain significance Single submitter
- CLXN p.Thr64Arg Uncertain significance Single submitter
- CLXN p.Tyr33His Uncertain significance Single submitter
- CLXN p.Val39Ala Uncertain significance Single submitter
- CLXN p.Val86Ile Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- CLXN p.Arg50His Uncertain significance Single submitter
- CLXN p.Arg54Gln Likely benign Single submitter
- CLXN p.Asp66Gly Uncertain significance Single submitter
- CLXN p.Leu28Phe Uncertain significance Single submitter
- CLXN p.Phe167Leu Uncertain significance Single submitter
- CLXN p.Thr10Arg Uncertain significance Single submitter
All CLXN variants
Pathogenic 1
- p.Glu40fs No assertion criteria ciliary dyskinesia, primary, 53
Likely pathogenic 3
- p.Arg3fs Single submitter ciliary dyskinesia, primary, 53
- p.Arg98Ter Single submitter ciliary dyskinesia, primary, 53
- p.Glu123Ter Single submitter ciliary dyskinesia, primary, 53
Likely benign 1
- p.Arg54Gln Single submitter ⚠
Uncertain significance 25
- c.576+1del Single submitter ciliary dyskinesia, primary, 53
- p.Arg50His Single submitter ⚠
- p.Arg54Ter Single submitter
- p.Arg74Gln Single submitter ⚠
- p.Arg98Gln Single submitter
- p.Asp66Gly Single submitter ⚠
- p.Gly116Val Single submitter ⚠
- p.Gly118Val Single submitter ⚠
- p.Ile29Val Single submitter ⚠
- p.Leu28Phe Single submitter ⚠
- p.Lys104Asn Single submitter ⚠
- p.Lys147Arg Single submitter ⚠
- p.Lys18Arg Single submitter ⚠
- p.Met211Thr Single submitter ⚠
- p.Met69Val Single submitter ⚠
- p.Phe167Leu Single submitter ⚠
- p.Phe61Leu Single submitter ⚠
- p.Ser193Cys Single submitter ⚠
- p.Thr10Arg Single submitter ⚠
- p.Thr178Asn Single submitter ⚠
- p.Thr60Ile Single submitter ⚠
- p.Thr64Arg Single submitter ⚠
- p.Tyr33His Single submitter ⚠
- p.Val39Ala Single submitter ⚠
- p.Val86Ile Single submitter ⚠