EXO5-DT

Chr 1

EXO5 divergent transcript

I cannot provide a clinical summary for EXO5-DT as no information about its protein function, associated diseases, or inheritance pattern was provided in the data below the gene name.

Clinical SummaryEXO5-DT
📋
ClinVar Variants
5 unique Pathogenic / Likely Pathogenic· 52 VUS of 58 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

58 submitted variants in ClinVar

Classification Summary

Pathogenic4
Likely Pathogenic1
VUS52
Likely Benign1
4
Pathogenic
1
Likely Pathogenic
52
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
4
0
4
Likely Pathogenic
0
0
1
0
1
VUS
0
52
0
0
52
Likely Benign
0
0
0
1
1
Benign
0
0
0
0
0
Total0525158

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

View in ClinVar →

Protein Context — Lollipop Plot

EXO5-DT · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
Open Research Assistant →
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found