CTNNBL1 — 90 ClinVar variants

All ClinVar germline CTNNBL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →

4 Benign · 2 Benign/Likely benign · 19 Likely benign · 65 Uncertain significance

Full CTNNBL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 57

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 43

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 14

The independent predictors disagree with each other — read with care.

All CTNNBL1 variants

Benign 4

c.1604-14C>A Multiple submitters
c.1393-16G>T Single submitter
c.466+62T>C Single submitter
c.823+13C>G Single submitter

Benign/Likely benign 2

c.1393-16G>A Multiple submitters
p.Phe255= Multiple submitters

Likely benign 19

p.Ala451= Multiple submitters
p.His152= Multiple submitters
p.Leu242= Multiple submitters
p.Leu245Val Multiple submitters
c.1393-18A>G Single submitter
c.1530+8G>C Single submitter
c.219+13C>T Single submitter
c.751-5C>T Single submitter
c.-15G>A Single submitter
p.Ala455= Single submitter
p.Ala455Val Single submitter
p.Asn475Ser Single submitter
p.Asn551= Single submitter
p.Glu278= Single submitter
p.Leu150= Single submitter
p.Leu490= Single submitter
p.Ser324= Single submitter
p.Ser435= Single submitter
p.Thr218= Single submitter

Uncertain significance 65

p.Arg100Trp Multiple submitters ⚠
p.Arg416Gln Multiple submitters ⚠
p.Ala360Thr Single submitter ⚠
p.Ala451Thr Single submitter ⚠
p.Ala455Thr Single submitter ⚠
p.Ala488Val Single submitter ⚠
p.Arg203His Single submitter ⚠
p.Arg30Gln Single submitter ⚠
p.Arg30Trp Single submitter ⚠
p.Arg327His Single submitter ⚠
p.Arg329His Single submitter
p.Arg350Gln Single submitter ⚠
p.Arg38His Single submitter ⚠
p.Arg468Gln Single submitter ⚠
p.Arg484Trp Single submitter
p.Arg512Cys Single submitter ⚠
p.Arg512Leu Single submitter ⚠
p.Arg544Gln Single submitter ⚠
p.Asn258Ser Single submitter
p.Asn273Ser Single submitter ⚠
p.Asn428fs Single submitter
p.Asp105Gly Single submitter
p.Asp119Gly Single submitter ⚠
p.Asp190Gly Single submitter ⚠
p.Asp272Gly Single submitter ⚠
p.Asp476Asn Single submitter ⚠
p.Cys233Arg Single submitter ⚠
p.Gln510Leu Single submitter ⚠
p.Glu402Lys Single submitter ⚠
p.Glu478Lys Single submitter ⚠
p.Glu547Gly Single submitter ⚠
p.Glu69Gln Single submitter ⚠
p.Gly148Ser Single submitter ⚠
p.Gly543Ser Single submitter ⚠
p.His531Arg Single submitter
p.Ile382Val Single submitter ⚠
p.Ile393Met Single submitter ⚠
p.Ile393Phe Single submitter ⚠
p.Ile556Val Single submitter ⚠
p.Leu174Ile Single submitter ⚠
p.Leu269Phe Single submitter
p.Lys392Asn Single submitter ⚠
p.Lys527Arg Single submitter ⚠
p.Lys534Arg Single submitter ⚠
p.Lys56Arg Single submitter ⚠
p.Met124Thr Single submitter ⚠
p.Met309Arg Single submitter ⚠
p.Met309Thr Single submitter ⚠
p.Met361Val Single submitter ⚠
p.Met521Leu Single submitter ⚠
p.Phe255Val Single submitter ⚠
p.Phe383Leu Single submitter ⚠
p.Pro18Leu Single submitter ⚠
p.Pro546Arg Single submitter ⚠
p.Ser113Thr Single submitter ⚠
p.Ser145Leu Single submitter ⚠
p.Ser294Pro Single submitter immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias ⚠
p.Ser352Gly Single submitter ⚠
p.Thr218Ala Single submitter
p.Tyr41Cys Single submitter ⚠
p.Tyr448Asn Single submitter ⚠
p.Tyr482Cys Single submitter ⚠
p.Val126Leu Single submitter ⚠
p.Val215Ile Single submitter ⚠
p.Val529Ile Single submitter ⚠