CTXN2 — 6 ClinVar variants
All ClinVar germline CTXN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 6 flagged for review →
6 Uncertain significance
Full CTXN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 6
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 6
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CTXN2 p.Ala11Thr Uncertain significance Single submitter
- CTXN2 p.Ala32Asp Uncertain significance Single submitter
- CTXN2 p.Ala81Thr Uncertain significance Single submitter
- CTXN2 p.Glu77Lys Uncertain significance Single submitter
- CTXN2 p.Ile39Val Uncertain significance Single submitter
- CTXN2 p.Leu80Val Uncertain significance Single submitter
All CTXN2 variants
Uncertain significance 6
- p.Ala11Thr Single submitter ⚠
- p.Ala32Asp Single submitter ⚠
- p.Ala81Thr Single submitter ⚠
- p.Glu77Lys Single submitter ⚠
- p.Ile39Val Single submitter ⚠
- p.Leu80Val Single submitter ⚠