EPM2A-DT

Chr 6

EPM2A divergent transcript

Also known as: FBXO30-DT

NCBI Gene: 100507557ENSG00000235652
299
ClinVar variants
32
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— EPM2A-DT
📋
ClinVar Variants
32 Pathogenic / Likely Pathogenic· 173 VUS of 299 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

299 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic17
Likely Pathogenic15
VUS173
Likely Benign78
Benign7
Conflicting9
17
Pathogenic
15
Likely Pathogenic
173
VUS
78
Likely Benign
7
Benign
9
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
6
0
11
0
17
Likely Pathogenic
5
6
4
0
15
VUS
0
165
8
0
173
Likely Benign
0
2
13
63
78
Benign
0
1
5
1
7
Conflicting
—9
Total111744164299

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

View in ClinVar →

Protein Context — Lollipop Plot

EPM2A-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 EPM2A-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