List of variants reported as likely pathogenic for X-linked disease by Institute of Human Genetics, University of Goettingen

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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003179.3(SYP):c.2T>C (p.Met1Thr)	rs1557103814	0.00001
NM_000033.4(ABCD1):c.851C>T (p.Ser284Leu)	rs2091711722
NM_000166.6(GJB1):c.42C>G (p.Asn14Lys)	rs1262031967
NM_000390.4(CHM):c.1402del (p.Ser468fs)
NM_001039591.3(USP9X):c.1511C>T (p.Ala504Val)
NM_001145073.3(USP27X):c.954del (p.Lys318fs)
NM_001367721.1(CASK):c.2155+1G>C	rs1555977199
NM_003491.4(NAA10):c.347G>A (p.Arg116Gln)	rs2065169655

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.