CLIC2 — 44 ClinVar variants
All ClinVar germline CLIC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 32 flagged for review →
2 Conflicting · 3 Benign · 2 Benign/Likely benign · 7 Likely benign · 30 Uncertain significance
Full CLIC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 32
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CLIC2 p.Gly7Ser
Conflicting
Single submitter
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
Predictors lean, ClinVar uncertain 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CLIC2 p.Ala131Thr Uncertain significance Single submitter
- CLIC2 p.Arg170Gly Uncertain significance Single submitter
-
CLIC2 p.Arg35Cys
Uncertain significance
Single submitter
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
- CLIC2 p.Arg5Gln Uncertain significance Single submitter
- CLIC2 p.Asp111Glu Uncertain significance Single submitter
- CLIC2 p.Gln245Arg Uncertain significance Single submitter
- CLIC2 p.Glu91Gly Uncertain significance Single submitter
- CLIC2 p.Gly21Val Uncertain significance Single submitter
-
CLIC2 p.His101Gln
Uncertain significance
Single submitter
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
- CLIC2 p.His227Arg Uncertain significance Single submitter
- CLIC2 p.His227Tyr Uncertain significance Single submitter
- CLIC2 p.Lys125Asn Uncertain significance Single submitter
-
CLIC2 p.Lys57Asn
Uncertain significance
Single submitter
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
- CLIC2 p.Pro188Arg Uncertain significance Single submitter
- CLIC2 p.Phe120Leu Uncertain significance No assertion criteria
Predictors split 16
The independent predictors disagree with each other — read with care.
-
CLIC2 p.Arg145His
Likely benign
Single submitter
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
- CLIC2 p.Arg214His Conflicting Single submitter
- CLIC2 p.Arg222Cys Uncertain significance Single submitter
- CLIC2 p.Asp156Gly Uncertain significance Single submitter
- CLIC2 p.Glu236Lys Uncertain significance Single submitter
- CLIC2 p.Glu25Asp Uncertain significance Single submitter
- CLIC2 p.Ile192Val Uncertain significance Single submitter
- CLIC2 p.Ile84Asn Uncertain significance Single submitter
- CLIC2 p.Lys133Arg Uncertain significance Single submitter
- CLIC2 p.Lys141Arg Likely benign Single submitter
- CLIC2 p.Lys244Glu Uncertain significance Single submitter
- CLIC2 p.Phe72Leu Uncertain significance Single submitter
- CLIC2 p.Pro100Thr Uncertain significance Single submitter
- CLIC2 p.Thr152Ala Uncertain significance Single submitter
- CLIC2 p.Thr152Asn Uncertain significance Single submitter
-
CLIC2 p.Ala131Glu
Uncertain significance
No assertion criteria
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
All CLIC2 variants
Conflicting classifications of pathogenicity 2
- p.Arg214His Single submitter ⚠
- p.Gly7Ser Single submitter X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome ⚠
Benign 3
- c.*19= Multiple submitters
- c.400+297= Single submitter
- c.58-6T>G No assertion criteria CLIC2-related disorder
Benign/Likely benign 2
- c.57+10C>T Multiple submitters
- p.Pro160Ala Multiple submitters
Likely benign 7
- c.168-17A>T Single submitter
- p.Arg145His Single submitter X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome ⚠
- p.Gly176= Single submitter
- p.Lys141Arg Single submitter ⚠
- p.Phe117= Single submitter
- p.Tyr239= Single submitter
- p.Val212= Single submitter
Uncertain significance 30
- c.582+6T>C Single submitter
- p.Ala131Thr Single submitter ⚠
- p.Arg170Gly Single submitter ⚠
- p.Arg222Cys Single submitter ⚠
- p.Arg35Cys Single submitter X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome ⚠
- p.Arg5Gln Single submitter ⚠
- p.Asp111Glu Single submitter ⚠
- p.Asp156Gly Single submitter ⚠
- p.Gln245Arg Single submitter ⚠
- p.Glu236Lys Single submitter ⚠
- p.Glu25Asp Single submitter ⚠
- p.Glu91Gly Single submitter ⚠
- p.Gly21Val Single submitter ⚠
- p.His101Gln Single submitter X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome ⚠
- p.His227Arg Single submitter ⚠
- p.His227Tyr Single submitter ⚠
- p.Ile192Val Single submitter ⚠
- p.Ile84Asn Single submitter ⚠
- p.Leu172= Single submitter
- p.Lys125Asn Single submitter ⚠
- p.Lys133Arg Single submitter ⚠
- p.Lys244Glu Single submitter ⚠
- p.Lys57Asn Single submitter X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome ⚠
- p.Phe72Leu Single submitter ⚠
- p.Pro100Thr Single submitter ⚠
- p.Pro188Arg Single submitter ⚠
- p.Thr152Ala Single submitter ⚠
- p.Thr152Asn Single submitter ⚠
- p.Ala131Glu No assertion criteria X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome ⚠
- p.Phe120Leu No assertion criteria ⚠