List of variants reported as pathogenic for Noonan syndrome 13 by OMIM

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: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002745.5(MAPK1):c.221T>A (p.Ile74Asn)	rs2069154121
NM_002745.5(MAPK1):c.521C>T (p.Ala174Val)	rs2069052012
NM_002745.5(MAPK1):c.952G>A (p.Asp318Asn)	rs2068716940
NM_002745.5(MAPK1):c.953A>G (p.Asp318Gly)	rs2068716907

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.