List of variants reported as uncertain significance for Noonan syndrome by Clinical Genomics Laboratory, Washington University in St. Louis

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006767.4(LZTR1):c.410C>A (p.Thr137Asn)	rs146627447	0.00010
NM_006767.4(LZTR1):c.1855C>T (p.Arg619Cys)	rs373488966	0.00008
NM_006767.4(LZTR1):c.1183G>A (p.Val395Ile)	rs373591504	0.00004
NM_006767.4(LZTR1):c.1403G>A (p.Arg468His)	rs146427018	0.00004
NM_006767.4(LZTR1):c.1556G>A (p.Arg519Gln)	rs149502567	0.00003
NM_005633.4(SOS1):c.2167+5dup
NM_006767.4(LZTR1):c.1430C>G (p.Ala477Gly)
NM_006767.4(LZTR1):c.1720G>A (p.Val574Met)
NM_006767.4(LZTR1):c.1996T>G (p.Phe666Val)
NM_006939.4(SOS2):c.3305T>G (p.Val1102Gly)

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.