List of variants reported as likely pathogenic for not provided by Geisinger Autism and Developmental Medicine Institute, Geisinger Health System

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: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001040142.2(SCN2A):c.3964G>A (p.Gly1322Arg)	rs1057521223
NM_001330078.2(NRXN1):c.773-304_790+128del	rs1553368900
NM_001376.5(DYNC1H1):c.6490G>A (p.Val2164Met)	rs1567010427
NM_015189.3(EXOC6B):c.1299T>G (p.Tyr433Ter)	rs1064795104
Single allele

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.