EN2-DT

Chr 7

EN2 divergent transcript

NCBI Gene: 121832807ENSG00000236544
41
ClinVar variants
41
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— EN2-DT
📋
ClinVar Variants
41 Pathogenic / Likely Pathogenic of 41 total submissions
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

41 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic37
Likely Pathogenic4
37
Pathogenic
4
Likely Pathogenic

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————37
Likely Pathogenic
————4
VUS
————0
Likely Benign
————0
Benign
————0
Total—41

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

EN2-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 EN2-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