Sugi Variant

Sugi Variant/CAMK2D

CAMK2D — 65 ClinVar variants

All ClinVar germline CAMK2D variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →

6 Pathogenic · 3 Likely pathogenic · 2 Benign · 2 Benign/Likely benign · 4 Likely benign · 48 Uncertain significance

Full CAMK2D gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 42

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 25

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

Predictors split 17

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

All CAMK2D variants

Pathogenic 6

  • p.Arg275His Single submitter neurodevelopmental disorder
  • p.Gly210Arg Single submitter
  • p.Leu291Phe Single submitter neurodevelopmental disorder
  • c.275+1G>T No assertion criteria neurodevelopmental disorder
  • p.Gln274Pro No assertion criteria neurodevelopmental disorder
  • p.Pro139Leu No assertion criteria neurodevelopmental disorder

Likely pathogenic 3

  • p.Glu110Lys Single submitter CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy
  • p.Phe294Ser Single submitter CAMK2D-related condition
  • p.Ser79Asn Single submitter CAMK2D-related disorder

Benign 2

Benign/Likely benign 2

Likely benign 4

Uncertain significance 48