CAV2-DT

Chr 7

CAV2 divergent transcript

NCBI Gene: 107986838ENSG00000237813
8
ClinVar variants
8
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— CAV2-DT
📋
ClinVar Variants
8 Pathogenic / Likely Pathogenic of 8 total submissions
Some data sources returned errors (2)

clinvar: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

8 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic8
8
Pathogenic

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————8
Likely Pathogenic
————0
VUS
————0
Likely Benign
————0
Benign
————0
Total—8

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CAV2-DT · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence

No publications found for CAV2-DT

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools