CACNG2 — 65 ClinVar variants
All ClinVar germline CACNG2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →
1 Benign · 11 Likely benign · 53 Uncertain significance
Full CACNG2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 49
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CACNG2 p.Ala214Thr Uncertain significance Multiple submitters
-
CACNG2 p.Arg319Pro
Uncertain significance
Multiple submitters
intellectual disability, autosomal dominant 10
- CACNG2 p.Gln298Arg Uncertain significance Multiple submitters
- CACNG2 p.Ala210Val Uncertain significance Single submitter
- CACNG2 p.Ala212Val Uncertain significance Single submitter
- CACNG2 p.Ala220Thr Uncertain significance Single submitter
- CACNG2 p.Ala252Thr Uncertain significance Single submitter
- CACNG2 p.Arg225Gly Uncertain significance Single submitter
- CACNG2 p.Arg6Gly Uncertain significance Single submitter
- CACNG2 p.Asn289Asp Uncertain significance Single submitter
- CACNG2 p.Glu70Lys Uncertain significance Single submitter
- CACNG2 p.Gly118Cys Uncertain significance Single submitter
- CACNG2 p.Gly38Glu Uncertain significance Single submitter
- CACNG2 p.His312Pro Uncertain significance Single submitter
- CACNG2 p.Ile134Val Uncertain significance Single submitter
- CACNG2 p.Ile150Val Uncertain significance Single submitter
-
CACNG2 p.Ile223Met
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 10
- CACNG2 p.Ser105Cys Uncertain significance Single submitter
- CACNG2 p.Ser137Thr Uncertain significance Single submitter
- CACNG2 p.Ser167Asn Uncertain significance Single submitter
- CACNG2 p.Ser310Pro Uncertain significance Single submitter
- CACNG2 p.Ser36Cys Uncertain significance Single submitter
- CACNG2 p.Thr13Ile Uncertain significance Single submitter
- CACNG2 p.Thr211Lys Uncertain significance Single submitter
-
CACNG2 p.Thr287Ser
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 10
-
CACNG2 p.Thr315Arg
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 10
- CACNG2 p.Thr59Ile Uncertain significance Single submitter
- CACNG2 p.Thr93Ala Uncertain significance Single submitter
- CACNG2 p.Trp64Arg Uncertain significance Single submitter
- CACNG2 p.Val101Met Uncertain significance Single submitter
- CACNG2 p.Val255Leu Uncertain significance Single submitter
-
CACNG2 p.Tyr181His
Uncertain significance
No assertion criteria
ependymoma
Predictors split 17
The independent predictors disagree with each other — read with care.
-
CACNG2 p.Ala100Ser
Uncertain significance
Multiple submitters
intellectual disability, autosomal dominant 10
-
CACNG2 p.Glu126Lys
Uncertain significance
Multiple submitters
intellectual disability, autosomal dominant 10
- CACNG2 p.Ala103Thr Uncertain significance Single submitter
- CACNG2 p.Ala124Thr Uncertain significance Single submitter
-
CACNG2 p.Ala197Thr
Uncertain significance
Single submitter
complex neurodevelopmental disorder
- CACNG2 p.Arg131Gln Uncertain significance Single submitter
- CACNG2 p.Arg213His Uncertain significance Single submitter
- CACNG2 p.Arg225His Uncertain significance Single submitter
- CACNG2 p.Asn317Lys Uncertain significance Single submitter
- CACNG2 p.Asp92Asn Uncertain significance Single submitter
- CACNG2 p.Gly7Ser Uncertain significance Single submitter
- CACNG2 p.His132Pro Uncertain significance Single submitter
- CACNG2 p.Met192Ile Uncertain significance Single submitter
- CACNG2 p.Ser228Thr Uncertain significance Single submitter
-
CACNG2 p.Ser46Arg
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 10
- CACNG2 p.Thr266Ala Uncertain significance Single submitter
- CACNG2 p.Thr272Met Uncertain significance Single submitter
All CACNG2 variants
Benign 1
- p.Leu76= No assertion criteria CACNG2-related disorder
Likely benign 11
- c.212-12C>A Multiple submitters
- p.Val193= Multiple submitters
- c.212-17C>G Single submitter
- c.437-7C>A Single submitter
- p.Ala161= Single submitter
- p.Ala220= Single submitter
- p.Arg102= Single submitter
- p.Asp309Asn Single submitter intellectual disability, autosomal dominant 10
- p.Gly183= Single submitter
- p.Ser253= Single submitter
- p.Tyr35= Single submitter
Uncertain significance 53
- p.Ala100Ser Multiple submitters intellectual disability, autosomal dominant 10 ⚠
- p.Ala214Thr Multiple submitters ⚠
- p.Arg319Pro Multiple submitters intellectual disability, autosomal dominant 10 ⚠
- p.Gln298Arg Multiple submitters ⚠
- p.Glu126Lys Multiple submitters intellectual disability, autosomal dominant 10 ⚠
- c.436+1G>A Single submitter neurodevelopmental disorder
- p.Ala103Thr Single submitter ⚠
- p.Ala124Thr Single submitter ⚠
- p.Ala197Thr Single submitter complex neurodevelopmental disorder ⚠
- p.Ala210Val Single submitter ⚠
- p.Ala212Val Single submitter ⚠
- p.Ala220Thr Single submitter ⚠
- p.Ala252Thr Single submitter ⚠
- p.Arg131Gln Single submitter ⚠
- p.Arg213His Single submitter ⚠
- p.Arg225Gly Single submitter ⚠
- p.Arg225His Single submitter ⚠
- p.Arg6Gly Single submitter ⚠
- p.Asn289Asp Single submitter ⚠
- p.Asn317Lys Single submitter ⚠
- p.Asp92Asn Single submitter ⚠
- p.Glu70Lys Single submitter ⚠
- p.Gly118Cys Single submitter ⚠
- p.Gly38Glu Single submitter ⚠
- p.Gly7Ser Single submitter ⚠
- p.His132Pro Single submitter ⚠
- p.His312Pro Single submitter ⚠
- p.Ile134Val Single submitter ⚠
- p.Ile150Val Single submitter ⚠
- p.Ile223Met Single submitter intellectual disability, autosomal dominant 10 ⚠
- p.Met192Ile Single submitter ⚠
- p.Ser105Cys Single submitter ⚠
- p.Ser137Thr Single submitter ⚠
- p.Ser167Asn Single submitter ⚠
- p.Ser228Thr Single submitter ⚠
- p.Ser310Pro Single submitter ⚠
- p.Ser36Cys Single submitter ⚠
- p.Ser46Arg Single submitter intellectual disability, autosomal dominant 10 ⚠
- p.Ter324Lys Single submitter
- p.Thr13Ile Single submitter ⚠
- p.Thr211Lys Single submitter ⚠
- p.Thr266Ala Single submitter ⚠
- p.Thr272Met Single submitter ⚠
- p.Thr287Ser Single submitter intellectual disability, autosomal dominant 10 ⚠
- p.Thr315Arg Single submitter intellectual disability, autosomal dominant 10 ⚠
- p.Thr59Ile Single submitter ⚠
- p.Thr93= Single submitter
- p.Thr93Ala Single submitter ⚠
- p.Trp64Arg Single submitter ⚠
- p.Val101Met Single submitter ⚠
- p.Val255Leu Single submitter ⚠
- p.Val28fs Single submitter intellectual disability, autosomal dominant 10
- p.Tyr181His No assertion criteria ependymoma ⚠