List of variants reported as likely pathogenic for Lafora disease

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_198586.3(NHLRC1):c.361G>A (p.Gly121Ser)	rs780082503	0.00002
NM_005670.4(EPM2A):c.302-1G>C	rs369463720	0.00001
NM_198586.3(NHLRC1):c.204C>A (p.Cys68Ter)	rs769144119	0.00001
NM_005670.4(EPM2A):c.163C>T (p.Gln55Ter)	rs187930476
NM_005670.4(EPM2A):c.179G>A (p.Trp60Ter)
NM_005670.4(EPM2A):c.745G>A (p.Val249Met)	rs1387516050
NM_005670.4(EPM2A):c.759delinsCATGCA (p.Ala254fs)	rs1131691331
NM_198586.3(NHLRC1):c.1163_1164del (p.Lys388fs)	rs1783731105
NM_198586.3(NHLRC1):c.137G>A (p.Cys46Tyr)
NM_198586.3(NHLRC1):c.377T>C (p.Leu126Pro)
NM_198586.3(NHLRC1):c.391G>A (p.Gly131Arg)	rs967125703
NM_198586.3(NHLRC1):c.438C>A (p.Asp146Glu)	rs200559475
NM_198586.3(NHLRC1):c.528C>G (p.Tyr176Ter)	rs1403101337
NM_198586.3(NHLRC1):c.575A>T (p.Asp192Val)	rs1194084403
NM_198586.3(NHLRC1):c.602T>C (p.Phe201Ser)

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.