CBLB — 120 ClinVar variants
All ClinVar germline CBLB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 96 flagged for review →
3 Pathogenic · 1 Likely pathogenic · 13 Benign · 3 Benign/Likely benign · 5 Likely benign · 95 Uncertain significance
Full CBLB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 96
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 58
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CBLB p.Ala2Glu Uncertain significance Single submitter
- CBLB p.Ala592Ser Uncertain significance Single submitter
- CBLB p.Ala928Val Uncertain significance Single submitter
- CBLB p.Ala934Gly Uncertain significance Single submitter
- CBLB p.Arg120Gln Uncertain significance Single submitter
- CBLB p.Arg248Trp Uncertain significance Single submitter
- CBLB p.Arg463Leu Uncertain significance Single submitter
- CBLB p.Arg510Cys Uncertain significance Single submitter
- CBLB p.Arg644Leu Uncertain significance Single submitter
- CBLB p.Arg909Gln Uncertain significance Single submitter
- CBLB p.Arg911His Uncertain significance Single submitter
- CBLB p.Arg964Gln Uncertain significance Single submitter
- CBLB p.Asp553Val Uncertain significance Single submitter
- CBLB p.Asp597Val Uncertain significance Single submitter
- CBLB p.Asp646Asn Uncertain significance Single submitter
- CBLB p.Asp705Glu Uncertain significance Single submitter
- CBLB p.Cys435Tyr Uncertain significance Single submitter
- CBLB p.Cys607Tyr Uncertain significance Single submitter
- CBLB p.Cys726Arg Uncertain significance Single submitter
- CBLB p.Cys741Arg Uncertain significance Single submitter
- CBLB p.Gln603Lys Uncertain significance Single submitter
- CBLB p.Glu419Asp Uncertain significance Single submitter
- CBLB p.Gly20Asp Uncertain significance Single submitter
- CBLB p.Gly611Arg Uncertain significance Single submitter
- CBLB p.Gly627Arg Uncertain significance Single submitter
- CBLB p.His574Arg Uncertain significance Single submitter
- CBLB p.His576Leu Uncertain significance Single submitter
- CBLB p.His725Arg Uncertain significance Single submitter
- CBLB p.Ile438Met Uncertain significance Single submitter
- CBLB p.Ile438Thr Uncertain significance Single submitter
- CBLB p.Ile439Val Uncertain significance Single submitter
- CBLB p.Leu604Arg Uncertain significance Single submitter
- CBLB p.Leu638Pro Uncertain significance Single submitter
- CBLB p.Leu851Pro Uncertain significance Single submitter
- CBLB p.Lys314Met Uncertain significance Single submitter
- CBLB p.Lys542Thr Uncertain significance Single submitter
- CBLB p.Met5Val Uncertain significance Single submitter
- CBLB p.Phe814Ser Uncertain significance Single submitter
- CBLB p.Phe859Ser Uncertain significance Single submitter
- CBLB p.Pro162His Uncertain significance Single submitter
- CBLB p.Pro258Ala Uncertain significance Single submitter
- CBLB p.Pro543Leu Uncertain significance Single submitter
- CBLB p.Pro615Thr Uncertain significance Single submitter
- CBLB p.Pro673Ser Uncertain significance Single submitter
- CBLB p.Pro676Ala Uncertain significance Single submitter
- CBLB p.Pro682Ser Uncertain significance Single submitter
- CBLB p.Pro906Ala Uncertain significance Single submitter
- CBLB p.Pro910Leu Uncertain significance Single submitter
- CBLB p.Ser403Leu Uncertain significance Single submitter
- CBLB p.Ser521Phe Uncertain significance Single submitter
- CBLB p.Ser718Ala Uncertain significance Single submitter
- CBLB p.Ser886Leu Uncertain significance Single submitter
- CBLB p.Ser899Pro Uncertain significance Single submitter
- CBLB p.Thr394Ile Uncertain significance Single submitter
- CBLB p.Thr601Ser Uncertain significance Single submitter
- CBLB p.Tyr133His Uncertain significance Single submitter
- CBLB p.Val717Ala Uncertain significance Single submitter
- CBLB p.Val733Leu Uncertain significance Single submitter
Predictors split 38
The independent predictors disagree with each other — read with care.
- CBLB p.Ala176Pro Uncertain significance Single submitter
- CBLB p.Arg520Ser Uncertain significance Single submitter
- CBLB p.Arg596Trp Uncertain significance Single submitter
- CBLB p.Arg640Trp Uncertain significance Single submitter
- CBLB p.Arg786Trp Uncertain significance Single submitter
- CBLB p.Arg797Gly Uncertain significance Single submitter
- CBLB p.Arg844Gln Uncertain significance Single submitter
- CBLB p.Arg874Gly Uncertain significance Single submitter
- CBLB p.Asn475Tyr Uncertain significance Single submitter
- CBLB p.Asn931Ile Uncertain significance Single submitter
- CBLB p.Asp188His Uncertain significance Single submitter
- CBLB p.Asp541Val Uncertain significance Single submitter
- CBLB p.Asp770Glu Uncertain significance Single submitter
- CBLB p.Asp850Gly Uncertain significance Single submitter
- CBLB p.Glu703Gln Uncertain significance Single submitter
- CBLB p.Glu704Lys Uncertain significance Single submitter
- CBLB p.Glu961Lys Uncertain significance Single submitter
- CBLB p.Ile191Val Uncertain significance Single submitter
- CBLB p.Ile499Phe Uncertain significance Single submitter
- CBLB p.Leu764Phe Uncertain significance Single submitter
- CBLB p.Leu89Met Uncertain significance Single submitter
- CBLB p.Pro445Leu Uncertain significance Single submitter
- CBLB p.Pro545Ala Uncertain significance Single submitter
- CBLB p.Pro558Ser Uncertain significance Single submitter
- CBLB p.Pro562Leu Uncertain significance Single submitter
- CBLB p.Pro669Leu Uncertain significance Single submitter
- CBLB p.Pro780Ser Uncertain significance Single submitter
- CBLB p.Pro827Leu Uncertain significance Single submitter
- CBLB p.Ser847Leu Uncertain significance Single submitter
- CBLB p.Thr479Ile Uncertain significance Single submitter
- CBLB p.Thr798Met Uncertain significance Single submitter
- CBLB p.Tyr889Asn Uncertain significance Single submitter
- CBLB p.Tyr889Cys Uncertain significance Single submitter
- CBLB p.Tyr889His Uncertain significance Single submitter
- CBLB p.Val192Ile Uncertain significance Single submitter
- CBLB p.Val776Leu Uncertain significance Single submitter
-
CBLB p.Asn883Asp
Benign
No assertion criteria
CBLB-related disorder
-
CBLB p.Cys436Trp
Pathogenic
No assertion criteria
autoimmune disease, multisystem, infantile-onset, 3
All CBLB variants
Pathogenic 3
- p.Arg468Ter No assertion criteria autoimmune disease, multisystem, infantile-onset, 3
- p.Cys436Trp No assertion criteria autoimmune disease, multisystem, infantile-onset, 3 ⚠
- p.His257Leu No assertion criteria autoimmune disease, multisystem, infantile-onset, 3
Likely pathogenic 1
- c.2689+2del Single submitter autoimmune disease, multisystem, infantile-onset, 3
Benign 13
- p.Pro387= Multiple submitters
- p.Ala621= No assertion criteria CBLB-related disorder
- p.Asn466Asp No assertion criteria CBLB-related disorder
- p.Asn883Asp No assertion criteria CBLB-related disorder ⚠
- p.Asp351= No assertion criteria CBLB-related disorder
- p.Asp424= No assertion criteria CBLB-related disorder
- p.Leu447= No assertion criteria CBLB-related disorder
- p.Lys275= No assertion criteria CBLB-related disorder
- p.Pro280= No assertion criteria CBLB-related disorder
- p.Pro777= No assertion criteria CBLB-related disorder
- p.Pro871= No assertion criteria CBLB-related disorder
- p.Ser894= No assertion criteria CBLB-related disorder
- p.Thr527= No assertion criteria CBLB-related disorder
Benign/Likely benign 3
- p.Arg670Gln Multiple submitters
- p.Pro689= Multiple submitters
- p.Ser622Thr Multiple submitters
Likely benign 5
Uncertain significance 95
- c.2569+1609A>C Single submitter autoimmune disease, multisystem, infantile-onset, 3
- p.Ala176Pro Single submitter ⚠
- p.Ala2Glu Single submitter ⚠
- p.Ala592Ser Single submitter ⚠
- p.Ala928Val Single submitter ⚠
- p.Ala934Gly Single submitter ⚠
- p.Arg120Gln Single submitter ⚠
- p.Arg248Trp Single submitter ⚠
- p.Arg463Leu Single submitter ⚠
- p.Arg510Cys Single submitter ⚠
- p.Arg520Ser Single submitter ⚠
- p.Arg596Trp Single submitter ⚠
- p.Arg640Trp Single submitter ⚠
- p.Arg644Leu Single submitter ⚠
- p.Arg786Trp Single submitter ⚠
- p.Arg797Gly Single submitter ⚠
- p.Arg844Gln Single submitter ⚠
- p.Arg874Gly Single submitter ⚠
- p.Arg909Gln Single submitter ⚠
- p.Arg911His Single submitter ⚠
- p.Arg964Gln Single submitter ⚠
- p.Asn475Tyr Single submitter ⚠
- p.Asn931Ile Single submitter ⚠
- p.Asp188His Single submitter ⚠
- p.Asp541Val Single submitter ⚠
- p.Asp553Val Single submitter ⚠
- p.Asp597Val Single submitter ⚠
- p.Asp646Asn Single submitter ⚠
- p.Asp705Glu Single submitter ⚠
- p.Asp770Glu Single submitter ⚠
- p.Asp850Gly Single submitter ⚠
- p.Cys435Tyr Single submitter ⚠
- p.Cys607Tyr Single submitter ⚠
- p.Cys726Arg Single submitter ⚠
- p.Cys741Arg Single submitter ⚠
- p.Gln603Lys Single submitter ⚠
- p.Glu419Asp Single submitter ⚠
- p.Glu703Gln Single submitter ⚠
- p.Glu704Lys Single submitter ⚠
- p.Glu961Lys Single submitter ⚠
- p.Gly20Asp Single submitter ⚠
- p.Gly611Arg Single submitter ⚠
- p.Gly627Arg Single submitter ⚠
- p.His574Arg Single submitter ⚠
- p.His576Leu Single submitter ⚠
- p.His725Arg Single submitter ⚠
- p.Ile191Val Single submitter ⚠
- p.Ile438Met Single submitter ⚠
- p.Ile438Thr Single submitter ⚠
- p.Ile439Val Single submitter ⚠
- p.Ile499Phe Single submitter ⚠
- p.Leu604Arg Single submitter ⚠
- p.Leu638Pro Single submitter ⚠
- p.Leu764Phe Single submitter ⚠
- p.Leu851Pro Single submitter ⚠
- p.Leu89Met Single submitter ⚠
- p.Lys314Met Single submitter ⚠
- p.Lys542Thr Single submitter ⚠
- p.Met5Val Single submitter ⚠
- p.Phe814Ser Single submitter ⚠
- p.Phe859Ser Single submitter ⚠
- p.Pro162His Single submitter ⚠
- p.Pro258Ala Single submitter ⚠
- p.Pro445Leu Single submitter ⚠
- p.Pro543Leu Single submitter ⚠
- p.Pro545Ala Single submitter ⚠
- p.Pro558Ser Single submitter ⚠
- p.Pro562Leu Single submitter ⚠
- p.Pro615Thr Single submitter ⚠
- p.Pro669Leu Single submitter ⚠
- p.Pro673Ser Single submitter ⚠
- p.Pro676Ala Single submitter ⚠
- p.Pro682Ser Single submitter ⚠
- p.Pro780Ser Single submitter ⚠
- p.Pro827Leu Single submitter ⚠
- p.Pro906Ala Single submitter ⚠
- p.Pro910Leu Single submitter ⚠
- p.Ser403Leu Single submitter ⚠
- p.Ser521Phe Single submitter ⚠
- p.Ser718Ala Single submitter ⚠
- p.Ser847Leu Single submitter ⚠
- p.Ser886Leu Single submitter ⚠
- p.Ser899Pro Single submitter ⚠
- p.Thr394Ile Single submitter ⚠
- p.Thr479Ile Single submitter ⚠
- p.Thr601Ser Single submitter ⚠
- p.Thr798Met Single submitter ⚠
- p.Tyr133His Single submitter ⚠
- p.Tyr889Asn Single submitter ⚠
- p.Tyr889Cys Single submitter ⚠
- p.Tyr889His Single submitter ⚠
- p.Val192Ile Single submitter ⚠
- p.Val717Ala Single submitter ⚠
- p.Val733Leu Single submitter ⚠
- p.Val776Leu Single submitter ⚠