ClinVar Miner

List of variants reported as likely pathogenic for Chromosome 2q32-q33 deletion syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP
NC_000002.12:g.199328864_199328867del
NM_001172509.2(SATB2):c.1169C>T (p.Thr390Ile) rs863224917
NM_001172509.2(SATB2):c.1964C>T (p.Pro655Leu) rs1553538919
NM_001172509.2(SATB2):c.597+1G>A rs1559016679

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.