CBLN4 — 12 ClinVar variants
All ClinVar germline CBLN4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
12 Uncertain significance
Full CBLN4 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.
- CBLN4 p.Asp170Asn Uncertain significance Single submitter
- CBLN4 p.Gln136Lys Uncertain significance Single submitter
- CBLN4 p.Gln189Arg Uncertain significance Single submitter
- CBLN4 p.Ser9Phe Uncertain significance Single submitter
- CBLN4 p.Thr90Arg Uncertain significance Single submitter
- CBLN4 p.Tyr94Cys Uncertain significance Single submitter
- CBLN4 p.Val14Ala Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All CBLN4 variants
Uncertain significance 12
- p.Arg158His Single submitter ⚠
- p.Arg65Trp Single submitter ⚠
- p.Asp170Asn Single submitter ⚠
- p.Asp96Glu Single submitter ⚠
- p.Gln136Lys Single submitter ⚠
- p.Gln189Arg Single submitter ⚠
- p.Phe106Leu Single submitter ⚠
- p.Ser9Phe Single submitter ⚠
- p.Thr162Ala Single submitter ⚠
- p.Thr90Arg Single submitter ⚠
- p.Tyr94Cys Single submitter ⚠
- p.Val14Ala Single submitter ⚠