ClinVar Miner

List of variants reported as pathogenic for RASopathy by GeneDx

Included ClinVar conditions (63):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
NM_002524.5(NRAS):c.112-1_113dup rs730880967
NM_002755.3(MAP2K1):c.383_384delinsTT (p.Gly128Val) rs730880508
NM_002834.4(PTPN11):c.1517_1518delinsCC (p.Gln506Pro) rs397509345
NM_002834.4(PTPN11):c.179_182delinsT (p.Gly60_Asp61delinsVal) rs397507508
NM_002834.5(PTPN11):c.768_770dup rs397507524
NM_005188.3(CBL):c.1076_1087del (p.Asp359_Lys362del) rs397507490
NM_005188.3(CBL):c.1096-4_1096-1del rs397517077
NM_005188.3(CBL):c.1227+2_1227+4delinsAAG rs397507493
NM_005343.4(HRAS):c.35_36delinsAT (p.Gly12Asp) rs727503094
NM_005633.3(SOS1):c.1300_1301delinsAA (p.Gly434Lys) rs730881048

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.