CLDN2 — 15 ClinVar variants
All ClinVar germline CLDN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 9 flagged for review →
1 Pathogenic · 3 Benign · 1 Likely benign · 10 Uncertain significance
Full CLDN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 9
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.
- CLDN2 p.Ala89Thr Uncertain significance Single submitter
- CLDN2 p.Asp154Glu Uncertain significance Single submitter
- CLDN2 p.Leu164Val Uncertain significance Single submitter
- CLDN2 p.Lys216Glu Uncertain significance Single submitter
- CLDN2 p.Pro209Thr Uncertain significance Single submitter
- CLDN2 p.Val23Ala Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All CLDN2 variants
Pathogenic 1
- p.Gly161Arg No assertion criteria male infertility
Benign 3
- c.-178-104_-178-103del Single submitter
- c.-178-113dup Single submitter
- c.-178-3dup Single submitter
Likely benign 1
- p.Phe158Tyr Single submitter
Uncertain significance 10
- p.Ala89Thr Single submitter ⚠
- p.Asp154Glu Single submitter ⚠
- p.Gly10Ala Single submitter ⚠
- p.Leu164Val Single submitter ⚠
- p.Lys216Glu Single submitter ⚠
- p.Pro209Thr Single submitter ⚠
- p.Ser111Tyr Single submitter ⚠
- p.Val23Ala Single submitter ⚠
- p.Asp65His No assertion criteria ⚠
- p.Ser174= No assertion criteria