RNF216-IT1

Chr 7

RNF216 intronic transcript 1

NCBI Gene: 100874342ENSG00000237738
23
ClinVar variants
20
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— RNF216-IT1
📋
ClinVar Variants
20 Pathogenic / Likely Pathogenic· 2 VUS of 23 total submissions
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

23 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic15
Likely Pathogenic5
VUS2
Likely Benign1
15
Pathogenic
5
Likely Pathogenic
2
VUS
1
Likely Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————15
Likely Pathogenic
————5
VUS
————2
Likely Benign
————1
Benign
————0
Total—23

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

RNF216-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 RNF216-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