Data Sharing Resources
GenomeConnect
Events
Contact
Toggle navigation
Navigation
Get Started
About Us
Curation Activities
Gene-Disease Validity
Training Materials
Browse Curations
Variant Pathogenicity
Training Materials
Browse Curations
Clinical Actionability
Training Materials
Browse Curations
Dosage Sensitivity
Training Materials
Browse Curations
Browse All ClinGen's Curated Genes
Working Groups
Expert Panels
Documents
& Announcements
Tools
Search:
Gene
Gene
Disease
Variant
Website Search
Browse Curations
About ClinGen's Curation Activities
Browse
All Curated Genes
Browse
Gene-Disease Validity
Browse
Dosage Sensitivity
Browse
Clinical Actionability
Browse
Variant Pathogenicity
SMARCA2
Name
SMARCA2
HGNC ID
HGNC:11098
Cytogenetic Location
9p24.3
Haploinsufficiency
No Evidence
Triplosensitivity
No Evidence
External Resources
View external resources
ClinVar Variants
View ClinVar Variants
GeneReviews®
View GeneReviews
ClinGen's Curation Summaries
External Genomic Resources
ClinVar Variants
SMARCA2
-
intellectual disability-sparse hair-brachydactyly syndrome
| MONDO:0011053
Curated by
Classification
Date
Report
Gene Dosage Sensitivity
No Evidence for Haploinsufficiency
06/01/2017
View report
SMARCA2
Curated by
Classification
Date
Report
Gene Dosage Sensitivity
No Evidence for Haploinsufficiency
06/01/2017
View report
Gene Dosage Sensitivity
No Evidence for Triplosensitivity
06/01/2017
View report
Send Feedback