CACNG2-DT

Chr 22

CACNG2 divergent transcript

133
ClinVar variants
13
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryCACNG2-DT
📋
ClinVar Variants
13 Pathogenic / Likely Pathogenic· 50 VUS of 133 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

133 submitted variants in ClinVar

Classification Summary

Pathogenic10
Likely Pathogenic3
VUS50
Likely Benign55
Benign4
Conflicting6
10
Pathogenic
3
Likely Pathogenic
50
VUS
55
Likely Benign
4
Benign
6
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
2
7
0
10
Likely Pathogenic
2
1
0
0
3
VUS
1
43
5
1
50
Likely Benign
0
3
26
26
55
Benign
0
2
1
1
4
Conflicting
6
Total4513928128

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CACNG2-DT · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →