List of variants reported as not provided for Noonan syndrome and Noonan-related syndrome by Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005633.4(SOS1):c.3347-1G>A	rs141565234	0.00017
NM_005633.4(SOS1):c.2138G>A (p.Arg713Gln)	rs483352826	0.00002
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)	rs121918457	0.00001
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_002834.5(PTPN11):c.218C>T (p.Thr73Ile)	rs121918462
NM_002834.5(PTPN11):c.785T>G (p.Leu262Arg)	rs397507526
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser)	rs121918463
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)	rs121918455
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)	rs80338796
NM_002880.4(RAF1):c.782C>T (p.Pro261Leu)	rs397516828
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly)	rs180177039
NM_006912.6(RIT1):c.270G>A (p.Met90Ile)	rs483352822

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.