Sugi Variant

Sugi Variant/CAMK2B

CAMK2B — 894 ClinVar variants

All ClinVar germline CAMK2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 307 flagged for review →

8 Pathogenic · 2 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 28 Conflicting · 40 Benign · 25 Benign/Likely benign · 450 Likely benign · 332 Uncertain significance

Full CAMK2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 307

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 agree, ClinVar conflicts 8

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predicted LoF vs a conflicting call 3

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 109

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

Predictors split 187

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 187

All CAMK2B variants

Pathogenic 8

  • p.Arg29Ter Multiple submitters intellectual disability, autosomal dominant 54
  • p.Glu110Lys Multiple submitters intellectual disability, autosomal dominant 54
  • p.Glu237Lys Multiple submitters intellectual disability
  • c.903+1G>A Single submitter intellectual disability
  • p.Arg260Gly Single submitter
  • p.Pro213Leu Single submitter intellectual disability, autosomal dominant 54
  • c.820-1G>A No assertion criteria intellectual disability
  • p.Arg284Ser No assertion criteria intellectual disability, autosomal dominant 54

Pathogenic/Likely pathogenic 2

  • p.Lys301Glu Multiple submitters Inborn genetic diseases
  • p.Pro139Leu Multiple submitters Inborn genetic diseases

Likely pathogenic 9

Conflicting classifications of pathogenicity 28

Benign 40

Benign/Likely benign 25

Likely benign 450

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 332

Showing the top 300 by review status; the full set is in the sitemap.