CBLL1 — 38 ClinVar variants
All ClinVar germline CBLL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 37 flagged for review →
1 Likely benign · 37 Uncertain significance
Full CBLL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 37
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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CBLL1 p.Ala38Val Uncertain significance Single submitter
- CBLL1 p.Ala418Val Uncertain significance Single submitter
- CBLL1 p.Ala41Pro Uncertain significance Single submitter
- CBLL1 p.Ala41Val Uncertain significance Single submitter
- CBLL1 p.Arg24Lys Uncertain significance Single submitter
- CBLL1 p.Arg261His Uncertain significance Single submitter
- CBLL1 p.Asp181Asn Uncertain significance Single submitter
- CBLL1 p.Asp2Asn Uncertain significance Single submitter
- CBLL1 p.Glu215Ala Uncertain significance Single submitter
- CBLL1 p.Glu61Gly Uncertain significance Single submitter
- CBLL1 p.Gly413Ser Uncertain significance Single submitter
- CBLL1 p.Gly58Asp Uncertain significance Single submitter
- CBLL1 p.His137Tyr Uncertain significance Single submitter
- CBLL1 p.Met377Val Uncertain significance Single submitter
- CBLL1 p.Pro430Ser Uncertain significance Single submitter
- CBLL1 p.Pro476Ser Uncertain significance Single submitter
- CBLL1 p.Pro52Ser Uncertain significance Single submitter
- CBLL1 p.Thr417Ser Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- CBLL1 p.Arg46Gly Uncertain significance Single submitter
- CBLL1 p.Arg487Lys Uncertain significance Single submitter
- CBLL1 p.Arg487Ser Uncertain significance Single submitter
- CBLL1 p.Asn425Ile Uncertain significance Single submitter
- CBLL1 p.Asp21Asn Uncertain significance Single submitter
- CBLL1 p.Gly113Arg Uncertain significance Single submitter
- CBLL1 p.Gly405Arg Uncertain significance Single submitter
- CBLL1 p.Pro105Ala Uncertain significance Single submitter
- CBLL1 p.Pro223Leu Uncertain significance Single submitter
- CBLL1 p.Pro320Ala Uncertain significance Single submitter
- CBLL1 p.Pro388Leu Uncertain significance Single submitter
- CBLL1 p.Pro408Arg Uncertain significance Single submitter
- CBLL1 p.Pro408Leu Uncertain significance Single submitter
- CBLL1 p.Pro419His Uncertain significance Single submitter
- CBLL1 p.Pro470Ser Uncertain significance Single submitter
- CBLL1 p.Ser268Cys Uncertain significance Single submitter
- CBLL1 p.Ser276Trp Uncertain significance Single submitter
- CBLL1 p.Val295Ala Uncertain significance Single submitter
- CBLL1 p.Val295Ile Uncertain significance Single submitter
All CBLL1 variants
Likely benign 1
- p.Thr214Ala Single submitter
Uncertain significance 37
- p.Ala38Val Single submitter ⚠
- p.Ala418Val Single submitter ⚠
- p.Ala41Pro Single submitter ⚠
- p.Ala41Val Single submitter ⚠
- p.Arg24Lys Single submitter ⚠
- p.Arg261His Single submitter ⚠
- p.Arg46Gly Single submitter ⚠
- p.Arg487Lys Single submitter ⚠
- p.Arg487Ser Single submitter ⚠
- p.Asn425Ile Single submitter ⚠
- p.Asp181Asn Single submitter ⚠
- p.Asp21Asn Single submitter ⚠
- p.Asp2Asn Single submitter ⚠
- p.Glu215Ala Single submitter ⚠
- p.Glu61Gly Single submitter ⚠
- p.Gly113Arg Single submitter ⚠
- p.Gly405Arg Single submitter ⚠
- p.Gly413Ser Single submitter ⚠
- p.Gly58Asp Single submitter ⚠
- p.His137Tyr Single submitter ⚠
- p.Met377Val Single submitter ⚠
- p.Pro105Ala Single submitter ⚠
- p.Pro223Leu Single submitter ⚠
- p.Pro320Ala Single submitter ⚠
- p.Pro388Leu Single submitter ⚠
- p.Pro408Arg Single submitter ⚠
- p.Pro408Leu Single submitter ⚠
- p.Pro419His Single submitter ⚠
- p.Pro430Ser Single submitter ⚠
- p.Pro470Ser Single submitter ⚠
- p.Pro476Ser Single submitter ⚠
- p.Pro52Ser Single submitter ⚠
- p.Ser268Cys Single submitter ⚠
- p.Ser276Trp Single submitter ⚠
- p.Thr417Ser Single submitter ⚠
- p.Val295Ala Single submitter ⚠
- p.Val295Ile Single submitter ⚠