ClinVar Miner

List of variants in gene PRICKLE2 reported as likely benign for Unverricht-Lundborg syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
NM_198859.4(PRICKLE2):c.*133G>A rs370569305
NM_198859.4(PRICKLE2):c.*2269T>C rs550841859
NM_198859.4(PRICKLE2):c.*3178G>C rs528929996
NM_198859.4(PRICKLE2):c.*4057G>A rs140931283
NM_198859.4(PRICKLE2):c.-252G>C rs142388795
NM_198859.4(PRICKLE2):c.1527G>A (p.Glu509=) rs144455095
NM_198859.4(PRICKLE2):c.444C>T (p.Arg148=) rs146538069
NM_198859.4(PRICKLE2):c.788-6T>C rs180903875

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.