List of variants studied for RASopathy by UCLA Clinical Genomics Center, UCLA

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	rs28933386	0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	rs267607048	0.00001
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)	rs786201367
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys)	rs397507506
NM_004985.5(KRAS):c.458A>T (p.Asp153Val)	rs104894360
NM_030662.4(MAP2K2):c.181A>G (p.Lys61Glu)	rs730880517

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.