CTXN1 — 10 ClinVar variants
All ClinVar germline CTXN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →
10 Uncertain significance
Full CTXN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 10
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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CTXN1 p.Ala26Val Uncertain significance Single submitter
- CTXN1 p.Ala71Thr Uncertain significance Single submitter
- CTXN1 p.Gly23Ser Uncertain significance Single submitter
- CTXN1 p.Leu36Val Uncertain significance Single submitter
- CTXN1 p.Leu42Pro Uncertain significance Single submitter
- CTXN1 p.Leu54Val Uncertain significance Single submitter
- CTXN1 p.Pro11Ser Uncertain significance Single submitter
- CTXN1 p.Pro18His Uncertain significance Single submitter
- CTXN1 p.Pro56Leu Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All CTXN1 variants
Uncertain significance 10
- p.Ala26Val Single submitter ⚠
- p.Ala71Thr Single submitter ⚠
- p.Gly23Ser Single submitter ⚠
- p.Leu36Val Single submitter ⚠
- p.Leu42Pro Single submitter ⚠
- p.Leu54Val Single submitter ⚠
- p.Met60Ile Single submitter ⚠
- p.Pro11Ser Single submitter ⚠
- p.Pro18His Single submitter ⚠
- p.Pro56Leu Single submitter ⚠