DGCR5

Chr 22

DiGeorge syndrome critical region gene 5

Also known as: DGCR10, DGCR9, DGS-A, DGS-B, LINC00037, NCRNA00037, POM121L5P, RIP

Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Jul 2025]

195
ClinVar variants
179
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryDGCR5
📋
ClinVar Variants
179 Pathogenic / Likely Pathogenic· 10 VUS of 195 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

195 submitted variants in ClinVar

Classification Summary

Pathogenic179
VUS10
Likely Benign6
179
Pathogenic
10
VUS
6
Likely Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
179
Likely Pathogenic
0
VUS
10
Likely Benign
6
Benign
0
Total195

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

DGCR5 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →