List of variants reported as pathogenic for chromosomal disorder by Clinical Genetics Laboratory, University Hospital Schleswig-Holstein

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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_000016.10:g.29663719_30188586del
NC_000023.11:g.153670446_154329698dup
NM_001172509.2(SATB2):c.1285C>T (p.Arg429Ter)	rs886041847
NM_001378120.1(MBD5):c.1023_1024delinsGA (p.Pro342Thr)
NM_016628.5(WAC):c.207C>A (p.Tyr69Ter)
NM_022455.5(NSD1):c.1014del (p.Cys339fs)
NM_078480.3(PUF60):c.636_640del (p.Gln212fs)

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.