CBLC — 72 ClinVar variants
All ClinVar germline CBLC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 65 flagged for review →
8 Likely benign · 64 Uncertain significance
Full CBLC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 65
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 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CBLC p.Ala122Ser Uncertain significance Single submitter
- CBLC p.Ala21Val Uncertain significance Single submitter
- CBLC p.Ala433Ser Uncertain significance Single submitter
- CBLC p.Ala450Gly Uncertain significance Single submitter
- CBLC p.Ala465Val Uncertain significance Single submitter
- CBLC p.Ala472Thr Uncertain significance Single submitter
- CBLC p.Arg101Gly Uncertain significance Single submitter
- CBLC p.Arg330Cys Uncertain significance Single submitter
- CBLC p.Arg45Pro Uncertain significance Single submitter
- CBLC p.Asn358Ser Uncertain significance Single submitter
- CBLC p.Asn460Lys Uncertain significance Single submitter
- CBLC p.Asp108Glu Uncertain significance Single submitter
- CBLC p.Asp360Val Uncertain significance Single submitter
- CBLC p.Cys168Ser Uncertain significance Single submitter
- CBLC p.Glu57Gln Uncertain significance Single submitter
- CBLC p.His132Leu Uncertain significance Single submitter
- CBLC p.His147Arg Uncertain significance Single submitter
- CBLC p.Ile82Ser Uncertain significance Single submitter
- CBLC p.Lys143Glu Uncertain significance Single submitter
- CBLC p.Lys453Arg Uncertain significance Single submitter
- CBLC p.Pro365Leu Uncertain significance Single submitter
- CBLC p.Pro387Thr Uncertain significance Single submitter
- CBLC p.Pro447Leu Uncertain significance Single submitter
- CBLC p.Pro463Leu Uncertain significance Single submitter
- CBLC p.Pro473Leu Uncertain significance Single submitter
- CBLC p.Pro70Leu Uncertain significance Single submitter
- CBLC p.Ser76Pro Uncertain significance Single submitter
- CBLC p.Thr197Ile Uncertain significance Single submitter
- CBLC p.Trp12Gly Uncertain significance Single submitter
- CBLC p.Trp342Cys Uncertain significance Single submitter
- CBLC p.Tyr307His Uncertain significance Single submitter
Predictors split 34
The independent predictors disagree with each other — read with care.
- CBLC p.Ala137Val Uncertain significance Single submitter
- CBLC p.Ala377Pro Uncertain significance Single submitter
- CBLC p.Ala398Val Uncertain significance Single submitter
- CBLC p.Arg103Gly Uncertain significance Single submitter
- CBLC p.Arg119Gln Uncertain significance Single submitter
- CBLC p.Arg167Gly Uncertain significance Single submitter
- CBLC p.Arg269His Uncertain significance Single submitter
- CBLC p.Arg390His Uncertain significance Single submitter
- CBLC p.Arg439Trp Uncertain significance Single submitter
- CBLC p.Arg63Gln Uncertain significance Single submitter
- CBLC p.Asn316Ser Uncertain significance Single submitter
- CBLC p.Asp318Tyr Uncertain significance Single submitter
- CBLC p.Gln272Arg Uncertain significance Single submitter
- CBLC p.Gln93His Uncertain significance Single submitter
- CBLC p.Glu423Lys Uncertain significance Single submitter
- CBLC p.Gly259Ser Uncertain significance Single submitter
- CBLC p.Gly305Ser Uncertain significance Single submitter
- CBLC p.Gly367Arg Uncertain significance Single submitter
- CBLC p.Leu308Phe Uncertain significance Single submitter
- CBLC p.Leu338Val Uncertain significance Single submitter
- CBLC p.Leu436Phe Uncertain significance Single submitter
- CBLC p.Lys90Arg Uncertain significance Single submitter
- CBLC p.Phe111Ser Uncertain significance Single submitter
- CBLC p.Pro171Ser Uncertain significance Single submitter
- CBLC p.Pro41Arg Uncertain significance Single submitter
- CBLC p.Pro444His Uncertain significance Single submitter
- CBLC p.Ser115Phe Uncertain significance Single submitter
- CBLC p.Ser177Tyr Uncertain significance Single submitter
- CBLC p.Ser381Leu Uncertain significance Single submitter
- CBLC p.Thr158Asn Uncertain significance Single submitter
- CBLC p.Tyr277Cys Uncertain significance Single submitter
- CBLC p.Val185Gly Uncertain significance Single submitter
- CBLC p.Val333Met Uncertain significance Single submitter
- CBLC p.Val39Met Likely benign Single submitter
All CBLC variants
Likely benign 8
- c.353+10C>G Single submitter
- p.Arg330His Single submitter
- p.Ile208Val Single submitter
- p.Met148Val Single submitter
- p.Pro452Leu Single submitter
- p.Ser38= Single submitter
- p.Ser432Leu Single submitter
- p.Val39Met Single submitter ⚠
Uncertain significance 64
- p.Ala122Ser Single submitter ⚠
- p.Ala137Val Single submitter ⚠
- p.Ala21Val Single submitter ⚠
- p.Ala377Pro Single submitter ⚠
- p.Ala398Val Single submitter ⚠
- p.Ala433Ser Single submitter ⚠
- p.Ala450Gly Single submitter ⚠
- p.Ala465Val Single submitter ⚠
- p.Ala472Thr Single submitter ⚠
- p.Arg101Gly Single submitter ⚠
- p.Arg103Gly Single submitter ⚠
- p.Arg119Gln Single submitter ⚠
- p.Arg167Gly Single submitter ⚠
- p.Arg269His Single submitter ⚠
- p.Arg330Cys Single submitter ⚠
- p.Arg390His Single submitter ⚠
- p.Arg439Trp Single submitter ⚠
- p.Arg45Pro Single submitter ⚠
- p.Arg63Gln Single submitter ⚠
- p.Asn316Ser Single submitter ⚠
- p.Asn358Ser Single submitter ⚠
- p.Asn460Lys Single submitter ⚠
- p.Asp108Glu Single submitter ⚠
- p.Asp318Tyr Single submitter ⚠
- p.Asp360Val Single submitter ⚠
- p.Cys168Ser Single submitter ⚠
- p.Gln272Arg Single submitter ⚠
- p.Gln93His Single submitter ⚠
- p.Glu423Lys Single submitter ⚠
- p.Glu57Gln Single submitter ⚠
- p.Gly259Ser Single submitter ⚠
- p.Gly305Ser Single submitter ⚠
- p.Gly367Arg Single submitter ⚠
- p.His132Leu Single submitter ⚠
- p.His147Arg Single submitter ⚠
- p.Ile82Ser Single submitter ⚠
- p.Leu308Phe Single submitter ⚠
- p.Leu338Val Single submitter ⚠
- p.Leu436Phe Single submitter ⚠
- p.Lys143Glu Single submitter ⚠
- p.Lys453Arg Single submitter ⚠
- p.Lys90Arg Single submitter ⚠
- p.Phe111Ser Single submitter ⚠
- p.Pro171Ser Single submitter ⚠
- p.Pro365Leu Single submitter ⚠
- p.Pro387Thr Single submitter ⚠
- p.Pro41Arg Single submitter ⚠
- p.Pro444His Single submitter ⚠
- p.Pro447Leu Single submitter ⚠
- p.Pro463Leu Single submitter ⚠
- p.Pro473Leu Single submitter ⚠
- p.Pro70Leu Single submitter ⚠
- p.Ser115Phe Single submitter ⚠
- p.Ser177Tyr Single submitter ⚠
- p.Ser381Leu Single submitter ⚠
- p.Ser76Pro Single submitter ⚠
- p.Thr158Asn Single submitter ⚠
- p.Thr197Ile Single submitter ⚠
- p.Trp12Gly Single submitter ⚠
- p.Trp342Cys Single submitter ⚠
- p.Tyr277Cys Single submitter ⚠
- p.Tyr307His Single submitter ⚠
- p.Val185Gly Single submitter ⚠
- p.Val333Met Single submitter ⚠