Sugi Variant

Sugi Variant/CAMK2A

CAMK2A — 204 ClinVar variants

All ClinVar germline CAMK2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 82 flagged for review →

13 Pathogenic · 2 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 10 Conflicting · 6 Benign · 50 Likely benign · 105 Uncertain significance

Full CAMK2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 82

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 5

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

Predicted LoF vs a conflicting call 2

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 55

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

Predictors split 20

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

All CAMK2A variants

Pathogenic 13

  • p.Pro212Leu Multiple submitters intellectual developmental disorder, autosomal dominant 53
  • c.1238-1G>C Single submitter
  • p.Arg74Ter Single submitter intellectual developmental disorder, autosomal dominant 53
  • p.Gln168Ter Single submitter
  • p.Gly301Arg Single submitter
  • p.Tyr222Ter Single submitter intellectual developmental disorder, autosomal dominant 53
  • c.817-1G>A No assertion criteria intellectual developmental disorder, autosomal dominant 53
  • p.Glu109Asp No assertion criteria intellectual developmental disorder, autosomal dominant 53
  • p.Glu183Val No assertion criteria intellectual developmental disorder, autosomal dominant 53
  • p.His282Arg No assertion criteria intellectual developmental disorder, autosomal dominant 53
  • p.His477Tyr No assertion criteria intellectual developmental disorder, autosomal recessive 63
  • p.Phe98Ser No assertion criteria intellectual developmental disorder, autosomal dominant 53
  • p.Thr286Pro No assertion criteria intellectual developmental disorder, autosomal dominant 53

Pathogenic/Likely pathogenic 2

  • p.Arg259Cys Multiple submitters intellectual developmental disorder, autosomal dominant 53
  • p.Pro212Gln Multiple submitters CAMK2A-related disorder

Likely pathogenic 18

  • p.Glu17Lys Multiple submitters intellectual developmental disorder, autosomal dominant 53 ⚠
  • c.1466+1G>A Single submitter CAMK2A-related disorder
  • c.62+1G>A Single submitter CAMK2A-related disorder
  • p.Ala262_Ala263del Single submitter intellectual developmental disorder, autosomal dominant 53
  • p.Arg407Ter Single submitter
  • p.Gln284fs Single submitter
  • p.Glu109Lys Single submitter intellectual developmental disorder, autosomal dominant 53
  • p.Glu139Gln Single submitter intellectual developmental disorder, autosomal dominant 53
  • p.Gly175Ala Single submitter intellectual developmental disorder, autosomal dominant 53
  • p.Gly20Asp Single submitter intellectual developmental disorder, autosomal dominant 53
  • p.Gly301Glu Single submitter
  • p.Leu252Pro Single submitter intellectual developmental disorder, autosomal dominant 53
  • p.Leu97Pro Single submitter intellectual developmental disorder, autosomal recessive 63
  • p.Thr286Asn Single submitter
  • p.Trp270Ter Single submitter
  • p.Tyr210Ter Single submitter CAMK2A-related disorder
  • c.598+2dup No assertion criteria intellectual disability
  • c.65del No assertion criteria intellectual disability

Conflicting classifications of pathogenicity 10

  • c.1237+1G>A Single submitter Inborn genetic diseases ⚠
  • p.Ala295Asp Single submitter intellectual developmental disorder, autosomal dominant 53 ⚠
  • p.Arg104Trp Single submitter intellectual developmental disorder, autosomal dominant 53 ⚠
  • p.Arg28Ter Single submitter intellectual developmental disorder, autosomal dominant 53 ⚠
  • p.Arg62Cys Single submitter Inborn genetic diseases ⚠
  • p.Asn412Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile440= Single submitter
  • p.Ile79Val Single submitter intellectual developmental disorder, autosomal dominant 53 ⚠
  • p.Pro235Leu Single submitter CAMK2A-related disorder ⚠
  • p.Ser25Leu Single submitter intellectual developmental disorder, autosomal dominant 53 ⚠

Benign 6

  • c.1467-4A>G Multiple submitters intellectual developmental disorder, autosomal dominant 53
  • c.158-19A>C Multiple submitters intellectual developmental disorder, autosomal dominant 53
  • c.599-6T>C Multiple submitters
  • p.Asp470= Multiple submitters intellectual developmental disorder, autosomal dominant 53
  • c.1238-44G>A Single submitter intellectual developmental disorder, autosomal recessive 63
  • c.1467-87A>T Single submitter intellectual developmental disorder, autosomal recessive 63

Likely benign 50

Uncertain significance 105