CLIC4 — 20 ClinVar variants
All ClinVar germline CLIC4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 20 flagged for review →
1 Likely pathogenic · 19 Uncertain significance
Full CLIC4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 20
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CLIC4 p.Arg133Ser Uncertain significance Single submitter
- CLIC4 p.Arg206His Uncertain significance Single submitter
- CLIC4 p.Glu241Gly Uncertain significance Single submitter
- CLIC4 p.Gly181Ser Uncertain significance Single submitter
- CLIC4 p.Lys106Asn Uncertain significance Single submitter
- CLIC4 p.Pro63Leu Uncertain significance Single submitter
- CLIC4 p.Thr86Met Uncertain significance Single submitter
- CLIC4 p.Val98Ala Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- CLIC4 p.Asn115Thr Uncertain significance Single submitter
- CLIC4 p.Asp209Asn Uncertain significance Single submitter
- CLIC4 p.Asp228Asn Uncertain significance Single submitter
- CLIC4 p.Glu183Gly Uncertain significance Single submitter
- CLIC4 p.Ile78Val Uncertain significance Single submitter
- CLIC4 p.Lys212Glu Uncertain significance Single submitter
- CLIC4 p.Lys24Arg Uncertain significance Single submitter
- CLIC4 p.Phe80Leu Uncertain significance Single submitter
- CLIC4 p.Pro17Leu Uncertain significance Single submitter
- CLIC4 p.Ser157Cys Uncertain significance Single submitter
- CLIC4 p.Thr252Ala Uncertain significance Single submitter
-
CLIC4 p.His74Tyr
Likely pathogenic
No assertion criteria
Short stature
All CLIC4 variants
Likely pathogenic 1
- p.His74Tyr No assertion criteria Short stature ⚠
Uncertain significance 19
- p.Arg133Ser Single submitter ⚠
- p.Arg206His Single submitter ⚠
- p.Asn115Thr Single submitter ⚠
- p.Asp209Asn Single submitter ⚠
- p.Asp228Asn Single submitter ⚠
- p.Glu183Gly Single submitter ⚠
- p.Glu241Gly Single submitter ⚠
- p.Gly181Ser Single submitter ⚠
- p.Ile78Val Single submitter ⚠
- p.Lys106Asn Single submitter ⚠
- p.Lys212Glu Single submitter ⚠
- p.Lys24Arg Single submitter ⚠
- p.Phe80Leu Single submitter ⚠
- p.Pro17Leu Single submitter ⚠
- p.Pro63Leu Single submitter ⚠
- p.Ser157Cys Single submitter ⚠
- p.Thr252Ala Single submitter ⚠
- p.Thr86Met Single submitter ⚠
- p.Val98Ala Single submitter ⚠