List of variants reported as likely pathogenic for bone disorder by Laboratory of Medical Genetics, University of Torino

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000202.8(IDS):c.1478G>A (p.Arg493His)	rs782347729	0.00002
NM_001374353.1(GLI2):c.4426_4428del (p.Val1476del)	rs2467786089
NM_001429.4(EP300):c.3671+5G>C	rs2145752629
NM_004456.5(EZH2):c.2015T>G (p.Phe672Cys)	rs2536334836
NM_006306.4(SMC1A):c.1276_1282del (p.Arg426fs)	rs2520945062

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.