CAMK2G — 119 ClinVar variants

All ClinVar germline CAMK2G variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 77 flagged for review →

1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 1 Conflicting · 8 Benign · 15 Likely benign · 89 Uncertain significance

Full CAMK2G gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 77

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

CAMK2G p.Asp412Glu Likely pathogenic Single submitter
intellectual developmental disorder 59

Predictors lean, ClinVar uncertain 47

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

Predictors split 29

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

All CAMK2G variants

Pathogenic/Likely pathogenic 1

p.Arg292Pro Multiple submitters Global developmental delay

Likely pathogenic 5

p.Ala324fs Single submitter intellectual developmental disorder 59
p.Arg297Trp Single submitter
p.Asp412Glu Single submitter intellectual developmental disorder 59 ⚠
p.Leu58fs Single submitter intellectual developmental disorder 59
p.Ile226Val No assertion criteria intellectual developmental disorder 59

Conflicting classifications of pathogenicity 1

p.Arg421Cys Single submitter

Benign 8

c.161-110A>G Multiple submitters intellectual developmental disorder 59
c.275+69A>G Multiple submitters intellectual developmental disorder 59
p.Lys49= Multiple submitters intellectual developmental disorder 59
c.696+102_696+103insA Single submitter intellectual developmental disorder 59
c.696+49del Single submitter intellectual developmental disorder 59
p.Gln546= Single submitter
p.Ala5= No assertion criteria CAMK2G-related disorder
p.Gly486= No assertion criteria CAMK2G-related disorder

Likely benign 15

c.1534+266G>T Single submitter intellectual developmental disorder 59
p.Ala151= Single submitter
p.Ala379Thr Single submitter
p.Arg567His Single submitter
p.Gln558= Single submitter
p.Gly348= Single submitter
p.Leu371= Single submitter
p.Pro419= Single submitter
p.Ser346= Single submitter
p.Ser427Leu Single submitter
p.Thr480Met Single submitter ⚠
c.903+9C>T No assertion criteria CAMK2G-related disorder
p.Pro270= No assertion criteria CAMK2G-related disorder
p.Thr306= No assertion criteria CAMK2G-related disorder
p.Thr47= No assertion criteria CAMK2G-related disorder

Uncertain significance 89

p.Arg553Trp Multiple submitters intellectual developmental disorder 59 ⚠
p.Thr383Met Multiple submitters ⚠
p.Thr523Ser Multiple submitters intellectual developmental disorder 59 ⚠
p.Val89Met Multiple submitters ⚠
c.1364-655G>C Single submitter intellectual developmental disorder 59
c.1534+149C>A Single submitter intellectual developmental disorder 59
c.1534+153G>A Single submitter CAMK2G-related syndromic intellectual disability
c.1534+1G>A Single submitter
p.Ala145Gly Single submitter ⚠
p.Ala24Val Single submitter ⚠
p.Ala258Glu Single submitter ⚠
p.Ala379Val Single submitter ⚠
p.Ala395Asp Single submitter ⚠
p.Ala395Thr Single submitter ⚠
p.Ala454Gly Single submitter ⚠
p.Ala470Asp Single submitter ⚠
p.Ala52Pro Single submitter ⚠
p.Ala584Val Single submitter ⚠
p.Arg29His Single submitter ⚠
p.Arg421His Single submitter
p.Arg432Gln Single submitter ⚠
p.Arg456Gln Single submitter ⚠
p.Arg563Trp Single submitter ⚠
p.Arg75Cys Single submitter ⚠
p.Arg9His Single submitter ⚠
p.Asn369His Single submitter ⚠
p.Asn394Asp Single submitter ⚠
p.Asn394Ser Single submitter ⚠
p.Asn407Ser Single submitter ⚠
p.Asn407Thr Single submitter ⚠
p.Asp239Asn Single submitter neurodevelopmental disorder ⚠
p.Asp535Asn Single submitter ⚠
p.Asp54Glu Single submitter ⚠
p.Cys290Arg Single submitter intellectual developmental disorder 59 ⚠
p.Cys579Ser Single submitter ⚠
p.Gln15His Single submitter ⚠
p.Glu19Asp Single submitter ⚠
p.Glu244Lys Single submitter ⚠
p.Glu244Ter Single submitter
p.Glu411Asp Single submitter ⚠
p.Glu413Lys Single submitter ⚠
p.Gly150Asp Single submitter ⚠
p.Gly23Ser Single submitter ⚠
p.Gly332Ser Single submitter intellectual developmental disorder 59
p.Gly349Ser Single submitter
p.Gly423Arg Single submitter
p.Gly84Glu Single submitter ⚠
p.His115Asn Single submitter ⚠
p.Ile117Met Single submitter ⚠
p.Ile197Met Single submitter ⚠
p.Ile226Ser Single submitter ⚠
p.Ile261Thr Single submitter ⚠
p.Ile461Phe Single submitter ⚠
p.Ile463Met Single submitter ⚠
p.Ile482Val Single submitter ⚠
p.Ile520Val Single submitter ⚠
p.Leu222Arg Single submitter ⚠
p.Leu420Phe Single submitter
p.Leu98Val Single submitter intellectual developmental disorder 59 ⚠
p.Lys368Arg Single submitter ⚠
p.Met444Thr Single submitter ⚠
p.Met502Thr Single submitter ⚠
p.Phe476fs Single submitter
p.Phe507Leu Single submitter ⚠
p.Phe90Ser Single submitter ⚠
p.Pro236Leu Single submitter ⚠
p.Pro419Leu Single submitter intellectual developmental disorder 59
p.Pro440Ser Single submitter ⚠
p.Pro586Leu Single submitter intellectual developmental disorder 59 ⚠
p.Ser426Arg Single submitter
p.Ser441Cys Single submitter ⚠
p.Thr262Lys Single submitter ⚠
p.Thr262Met Single submitter ⚠
p.Thr396Arg Single submitter ⚠
p.Thr396Ile Single submitter ⚠
p.Thr408Ile Single submitter ⚠
p.Thr522Ala Single submitter ⚠
p.Thr556Ala Single submitter intellectual developmental disorder 59 ⚠
p.Trp215Ser Single submitter ⚠
p.Val133Ile Single submitter intellectual developmental disorder 59 ⚠
p.Val153Ile Single submitter ⚠
p.Val288Met Single submitter intellectual developmental disorder 59 ⚠
p.Val28Ala Single submitter intellectual developmental disorder 59 ⚠
p.Val372Ile Single submitter ⚠
p.Val499Met Single submitter ⚠
p.Val531Met Single submitter ⚠
p.Glu404Ter No assertion criteria CAMK2G-related disorder
p.Ile471Val No assertion criteria CAMK2G-related disorder ⚠
p.Thr240Met No assertion criteria ⚠