HNRNPUL2-BSCL2

Chr 11

HNRNPUL2-BSCL2 readthrough (NMD candidate)

NCBI Gene: 100534595ENSG00000234857
482
ClinVar variants
49
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— HNRNPUL2-BSCL2
📋
ClinVar Variants
49 Pathogenic / Likely Pathogenic· 281 VUS of 482 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

482 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic32
Likely Pathogenic17
VUS281
Likely Benign103
Benign6
Conflicting43
32
Pathogenic
17
Likely Pathogenic
281
VUS
103
Likely Benign
6
Benign
43
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
16
3
12
1
32
Likely Pathogenic
12
1
3
1
17
VUS
5
255
18
3
281
Likely Benign
0
12
46
45
103
Benign
0
2
4
0
6
Conflicting
—43
Total332738350482

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

View in ClinVar →

Protein Context — Lollipop Plot

HNRNPUL2-BSCL2 · 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 HNRNPUL2-BSCL2

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