ClinVar Miner

List of variants reported as pathogenic for Epilepsy, familial temporal lobe, 7

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu) rs201044262
NM_005045.4(RELN):c.2168A>G (p.Tyr723Cys) rs768119894
NM_005045.4(RELN):c.2288A>G (p.Asp763Gly) rs794727998
NM_005045.4(RELN):c.2392C>A (p.His798Asn) rs794727996
NM_005045.4(RELN):c.2531C>T (p.Pro844Leu) rs797045000
NM_005045.4(RELN):c.8347G>T (p.Gly2783Cys) rs794727997
NM_005045.4(RELN):c.9526G>A (p.Glu3176Lys) rs794727999

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.