List of variants in gene CNTN2 reported as likely pathogenic for Epilepsy, familial adult myoclonic, 5

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005076.5(CNTN2):c.1241-1G>C	rs1553345874	0.00001
NM_005076.5(CNTN2):c.2432-2A>G	rs1196223064	0.00001
NC_000001.10:g.(?_205034083)_(205035624_?)del
NM_005076.5(CNTN2):c.1240+1G>A	rs113709347
NM_005076.5(CNTN2):c.1695+2T>C	rs763392794
NM_005076.5(CNTN2):c.1696-2A>G
NM_005076.5(CNTN2):c.2126-1G>C	rs2151198133
NM_005076.5(CNTN2):c.2197-2A>G
NM_005076.5(CNTN2):c.2544+1G>T
NM_005076.5(CNTN2):c.2731+1G>A	rs1202358073

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.