CLDN11 — 20 ClinVar variants
All ClinVar germline CLDN11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
2 Pathogenic · 1 Benign · 4 Likely benign · 13 Uncertain significance
Full CLDN11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CLDN11 p.Asn188Ser Uncertain significance Single submitter
- CLDN11 p.Gly92Ser Uncertain significance Single submitter
- CLDN11 p.His201Tyr Uncertain significance Single submitter
- CLDN11 p.Ser196Pro Uncertain significance Single submitter
- CLDN11 p.Thr200Ala Uncertain significance Single submitter
- CLDN11 p.Tyr117His Uncertain significance Single submitter
- CLDN11 p.Val170Leu Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
- CLDN11 p.Ala194Val Uncertain significance Single submitter
- CLDN11 p.Arg107Gly Uncertain significance Single submitter
-
CLDN11 p.Thr60Arg
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 22
- CLDN11 p.Val170Met Uncertain significance Single submitter
-
CLDN11 p.Val78Met
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 22
All CLDN11 variants
Pathogenic 2
- p.Ter208Gln Single submitter leukodystrophy, hypomyelinating, 22
- p.Ter208Glu No assertion criteria leukodystrophy, hypomyelinating, 22
Benign 1
- p.Ala202= Single submitter
Likely benign 4
Uncertain significance 13
- p.Ala194Val Single submitter ⚠
- p.Arg107Gly Single submitter ⚠
- p.Asn188Ser Single submitter ⚠
- p.Gly92Ser Single submitter ⚠
- p.His201Tyr Single submitter ⚠
- p.Ser196Pro Single submitter ⚠
- p.Thr200Ala Single submitter ⚠
- p.Thr60Arg Single submitter leukodystrophy, hypomyelinating, 22 ⚠
- p.Tyr117His Single submitter ⚠
- p.Val170Leu Single submitter ⚠
- p.Val170Met Single submitter ⚠
- p.Val32_Gly35del Single submitter Marfanoid habitus and intellectual disability
- p.Val78Met Single submitter leukodystrophy, hypomyelinating, 22 ⚠