CBLN1 — 17 ClinVar variants
All ClinVar germline CBLN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →
17 Uncertain significance
Full CBLN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 17
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CBLN1 p.Arg20Cys Uncertain significance Single submitter
- CBLN1 p.Arg20His Uncertain significance Single submitter
- CBLN1 p.Asp165Tyr Uncertain significance Single submitter
- CBLN1 p.Gly3Val Uncertain significance Single submitter
- CBLN1 p.Ile111Val Uncertain significance Single submitter
- CBLN1 p.Met82Arg Uncertain significance Single submitter
- CBLN1 p.Phe104Leu Uncertain significance Single submitter
- CBLN1 p.Phe86Leu Uncertain significance Single submitter
- CBLN1 p.Pro107Ser Uncertain significance Single submitter
- CBLN1 p.Pro137Thr Uncertain significance Single submitter
- CBLN1 p.Pro18Leu Uncertain significance Single submitter
- CBLN1 p.Ser99Thr Uncertain significance Single submitter
- CBLN1 p.Thr43Met Uncertain significance Single submitter
- CBLN1 p.Val119Leu Uncertain significance Single submitter
- CBLN1 p.Val138Leu Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All CBLN1 variants
Uncertain significance 17
- p.Arg20Cys Single submitter ⚠
- p.Arg20His Single submitter ⚠
- p.Asp165Tyr Single submitter ⚠
- p.Gln128Glu Single submitter ⚠
- p.Gly3Val Single submitter ⚠
- p.Ile111Val Single submitter ⚠
- p.Met132Thr Single submitter ⚠
- p.Met82Arg Single submitter ⚠
- p.Phe104Leu Single submitter ⚠
- p.Phe86Leu Single submitter ⚠
- p.Pro107Ser Single submitter ⚠
- p.Pro137Thr Single submitter ⚠
- p.Pro18Leu Single submitter ⚠
- p.Ser99Thr Single submitter ⚠
- p.Thr43Met Single submitter ⚠
- p.Val119Leu Single submitter ⚠
- p.Val138Leu Single submitter ⚠