ClinVar Miner

List of variants reported as pathogenic for RASopathy by Institute of Human Genetics,Klinikum rechts der Isar

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP
NM_000267.3(NF1):c.4755_4759del (p.Phe1585fs) rs1555619413
NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042

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.