ClinVar Miner

List of variants in gene PTPN11 reported as likely benign for Noonan syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
NM_002834.5(PTPN11):c.*1006del rs146940557
NM_002834.5(PTPN11):c.*1157ATG[14] rs80269561
NM_002834.5(PTPN11):c.1402A>T (p.Thr468Ser)
NM_002834.5(PTPN11):c.1620C>T (p.His540=) rs587781132
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805
NM_002834.5(PTPN11):c.933+25T>C rs727505386

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.