PPP2R2B-IT1

Chr 5

PPP2R2B intronic transcript 1

NCBI Gene: 100874361ENSG00000249553
7
ClinVar variants
5
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— PPP2R2B-IT1
📋
ClinVar Variants
5 Pathogenic / Likely Pathogenic· 1 VUS of 7 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

7 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic5
VUS1
Likely Benign1
5
Pathogenic
1
VUS
1
Likely Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————5
Likely Pathogenic
————0
VUS
————1
Likely Benign
————1
Benign
————0
Total—7

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

PPP2R2B-IT1 · 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 PPP2R2B-IT1

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