SMCR2

Chr 17

Smith-Magenis syndrome chromosome region, candidate 2

Also known as: TCONS_00025215

NCBI Gene: 105371564ENSG00000223979
66
ClinVar variants
64
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— SMCR2
📋
ClinVar Variants
64 Pathogenic / Likely Pathogenic· 2 VUS of 66 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

66 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic64
VUS2
64
Pathogenic
2
VUS

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————64
Likely Pathogenic
————0
VUS
————2
Likely Benign
————0
Benign
————0
Total—66

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SMCR2 · 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 SMCR2

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