ClinVar Miner

List of variants reported as pathogenic for Cylindromatosis, familial by Division of Genomic Diagnostics,The Children's Hospital of Philadelphia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
Download table as spreadsheet
NM_015247.2(CYLD):c.1112C>A (p.Ser371Ter) rs886040872
NM_015247.2(CYLD):c.1327C>T (p.Gln443Ter) rs764952788
NM_015247.2(CYLD):c.1363C>T (p.Gln455Ter) rs886040873
NM_015247.2(CYLD):c.1658_1661del (p.Asn553fs) rs886040876
NM_015247.2(CYLD):c.1771A>T (p.Lys591Ter) rs886040879
NM_015247.2(CYLD):c.1950-2_1953del rs886040882
NM_015247.2(CYLD):c.2242-2A>G rs886040886
NM_015247.2(CYLD):c.2291_2295del (p.Lys764fs) rs886040887
NM_015247.2(CYLD):c.2299A>T (p.Lys767Ter) rs886040888
NM_015247.2(CYLD):c.2350+1G>T rs886040890
NM_015247.2(CYLD):c.2390_2391del (p.Met796_Tyr797insTer) rs886040891
NM_015247.2(CYLD):c.2406_2407del (p.Cys802_Tyr803delinsTer) rs886040892
NM_015247.2(CYLD):c.2515del (p.Ser839fs) rs886040893
NM_015247.2(CYLD):c.2569C>T (p.Gln857Ter) rs886040894
NM_015247.2(CYLD):c.2806C>T (p.Arg936Ter) rs121908390
NM_015247.2(CYLD):c.831_834del (p.Asp277fs) rs886040868
NM_015247.2(CYLD):c.911dup (p.Ala305fs) rs886040869
NM_015247.2(CYLD):c.987_988dup (p.Gly330fs) rs886040871

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.