CLDN10 — 46 ClinVar variants
All ClinVar germline CLDN10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →
5 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 9 Benign · 30 Uncertain significance
Full CLDN10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 27
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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CLDN10 p.Ala120Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLDN10 p.Ala161Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLDN10 p.Ala43Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLDN10 p.Ala86Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLDN10 p.Asn217His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLDN10 p.Asp148Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLDN10 p.Asp185Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLDN10 p.Asp212Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLDN10 p.Asp73Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLDN10 p.Cys79Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLDN10 p.Gly81Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLDN10 p.Lys220Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLDN10 p.Met12Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLDN10 p.Phe124Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLDN10 p.Phe66Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CLDN10 p.Ala169Ser Uncertain significance No assertion criteria
Predictors split 11
The independent predictors disagree with each other — read with care.
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CLDN10 p.Thr144Met
Uncertain significance
Multiple submitters
Lower limb muscle weakness
- CLDN10 p.Arg204Trp Uncertain significance Single submitter
-
CLDN10 p.Asn48Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLDN10 p.Gln154Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLDN10 p.Met83Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLDN10 p.Phe91Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLDN10 p.Ser203Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLDN10 p.Thr216Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLDN10 p.Tyr207Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLDN10 p.Val21Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CLDN10 p.Asn140Lys Uncertain significance No assertion criteria
All CLDN10 variants
Pathogenic 5
- p.Trp166Ter Single submitter HELIX syndrome
- p.Asn48Lys No assertion criteria HELIX syndrome
- p.Met1Thr No assertion criteria HELIX syndrome
- p.Ser131Leu No assertion criteria HELIX syndrome
- p.Trp46Ter No assertion criteria HELIX syndrome
Pathogenic/Likely pathogenic 1
- p.Pro218fs Multiple submitters HELIX syndrome
Likely pathogenic 1
- p.Asn48His Single submitter HELIX syndrome
Benign 9
- c.-78A>G Multiple submitters
- c.*11T>G Multiple submitters
- c.214+179C>T Single submitter
- c.215-7578G>A Single submitter
- c.215-7613del Single submitter
- c.220+106C>T Single submitter
- c.220+132A>C Single submitter
- p.Gly134= No assertion criteria CLDN10-related disorder
- p.Ile76= No assertion criteria CLDN10-related disorder
Uncertain significance 30
- p.Thr144Met Multiple submitters Lower limb muscle weakness ⚠
- p.Ala120Ser Single submitter Inborn genetic diseases ⚠
- p.Ala161Thr Single submitter Inborn genetic diseases ⚠
- p.Ala34Val Single submitter Inborn genetic diseases
- p.Ala43Ser Single submitter Inborn genetic diseases ⚠
- p.Ala86Ser Single submitter Inborn genetic diseases ⚠
- p.Arg204Trp Single submitter ⚠
- p.Asn217His Single submitter Inborn genetic diseases ⚠
- p.Asn48Ser Single submitter Inborn genetic diseases ⚠
- p.Asp148Asn Single submitter Inborn genetic diseases ⚠
- p.Asp185Gly Single submitter Inborn genetic diseases ⚠
- p.Asp212Asn Single submitter Inborn genetic diseases ⚠
- p.Asp73Glu Single submitter Inborn genetic diseases ⚠
- p.Cys79Arg Single submitter Inborn genetic diseases ⚠
- p.Gln154Arg Single submitter Inborn genetic diseases ⚠
- p.Gly81Glu Single submitter Inborn genetic diseases ⚠
- p.Lys220Arg Single submitter Inborn genetic diseases ⚠
- p.Met12Thr Single submitter Inborn genetic diseases ⚠
- p.Met83Val Single submitter Inborn genetic diseases ⚠
- p.Phe124Ser Single submitter Inborn genetic diseases ⚠
- p.Phe66Leu Single submitter Inborn genetic diseases ⚠
- p.Phe91Leu Single submitter Inborn genetic diseases ⚠
- p.Ser203Phe Single submitter Inborn genetic diseases ⚠
- p.Thr216del Single submitter HELIX syndrome
- p.Thr216Ile Single submitter Inborn genetic diseases ⚠
- p.Tyr207Cys Single submitter Inborn genetic diseases ⚠
- p.Val21Ala Single submitter Inborn genetic diseases ⚠
- p.Ala169Ser No assertion criteria ⚠
- p.Asn140Lys No assertion criteria ⚠
- p.Val106= No assertion criteria