UBE2H-DT

Chr 7

UBE2H divergent transcript

NCBI Gene: 121832803ENSG00000244036
47
ClinVar variants
9
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— UBE2H-DT
📋
ClinVar Variants
9 Pathogenic / Likely Pathogenic· 36 VUS of 47 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

47 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic9
VUS36
Likely Benign2
9
Pathogenic
36
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
9
0
9
Likely Pathogenic
0
0
0
0
0
VUS
0
35
1
0
36
Likely Benign
0
2
0
0
2
Benign
0
0
0
0
0
Total03710047

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

View in ClinVar →

Protein Context — Lollipop Plot

UBE2H-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 UBE2H-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