CBLN2 — 34 ClinVar variants
All ClinVar germline CBLN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 24 flagged for review →
9 Benign · 1 Likely benign · 24 Uncertain significance
Full CBLN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 24
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.
- CBLN2 p.Ala174Ser Uncertain significance Single submitter
- CBLN2 p.Ala21Thr Uncertain significance Single submitter
- CBLN2 p.Ala37Val Uncertain significance Single submitter
- CBLN2 p.Ala45Val Uncertain significance Single submitter
- CBLN2 p.Arg19Trp Uncertain significance Single submitter
- CBLN2 p.Arg50Gln Uncertain significance Single submitter
- CBLN2 p.Glu24Lys Uncertain significance Single submitter
- CBLN2 p.Gly33Glu Uncertain significance Single submitter
- CBLN2 p.Gly5Ser Uncertain significance Single submitter
- CBLN2 p.Gly89Ala Uncertain significance Single submitter
- CBLN2 p.Ile142Val Uncertain significance Single submitter
- CBLN2 p.Met15Ile Uncertain significance Single submitter
- CBLN2 p.Pro168Thr Uncertain significance Single submitter
- CBLN2 p.Tyr116Phe Uncertain significance Single submitter
- CBLN2 p.Val136Ala Uncertain significance Single submitter
- CBLN2 p.Val136Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- CBLN2 p.Asp69Asn Uncertain significance Single submitter
- CBLN2 p.Gly166Ala Uncertain significance Single submitter
- CBLN2 p.Ile58Thr Uncertain significance Single submitter
- CBLN2 p.Leu40Phe Uncertain significance Single submitter
- CBLN2 p.Met163Ile Uncertain significance Single submitter
- CBLN2 p.Met208Ile Uncertain significance Single submitter
- CBLN2 p.Pro72Arg Uncertain significance Single submitter
- CBLN2 p.Thr55Arg Uncertain significance Single submitter
All CBLN2 variants
Benign 9
- c.-115C>G Multiple submitters
- c.-166-77G>A Multiple submitters
- c.-85A>G Multiple submitters
- c.*10C>T Multiple submitters
- p.Pro25= Multiple submitters
- p.Ser73= Multiple submitters
- c.357+141C>A Single submitter
- c.-166-188G>T Single submitter
- c.-166-331C>T Single submitter
Likely benign 1
- c.-166-135C>A Multiple submitters
Uncertain significance 24
- p.Ala174Ser Single submitter ⚠
- p.Ala21Thr Single submitter ⚠
- p.Ala37Val Single submitter ⚠
- p.Ala45Val Single submitter ⚠
- p.Arg19Trp Single submitter ⚠
- p.Arg50Gln Single submitter ⚠
- p.Asp69Asn Single submitter ⚠
- p.Glu24Lys Single submitter ⚠
- p.Gly166Ala Single submitter ⚠
- p.Gly33Glu Single submitter ⚠
- p.Gly5Ser Single submitter ⚠
- p.Gly89Ala Single submitter ⚠
- p.Ile142Val Single submitter ⚠
- p.Ile58Thr Single submitter ⚠
- p.Leu40Phe Single submitter ⚠
- p.Met15Ile Single submitter ⚠
- p.Met163Ile Single submitter ⚠
- p.Met208Ile Single submitter ⚠
- p.Pro168Thr Single submitter ⚠
- p.Pro72Arg Single submitter ⚠
- p.Thr55Arg Single submitter ⚠
- p.Tyr116Phe Single submitter ⚠
- p.Val136Ala Single submitter ⚠
- p.Val136Ile Single submitter ⚠