ClinVar Miner

List of variants reported as pathogenic for Neuronal ceroid lipofuscinosis 1 by Integrated Genetics/Laboratory Corporation of America

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
NM_000310.3(PPT1):c.169dup (p.Met57fs) rs386833634
NM_000310.3(PPT1):c.223A>C (p.Thr75Pro) rs137852696
NM_000310.3(PPT1):c.29T>A (p.Leu10Ter) rs137852699
NM_000310.3(PPT1):c.364A>T (p.Arg122Trp) rs137852695
NM_000310.3(PPT1):c.541G>A (p.Val181Met) rs148412181
NM_000310.3(PPT1):c.871C>T (p.Gln291Ter) rs386833668

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.