ClinVar Miner

List of variants reported as uncertain significance for Noonan syndrome and Noonan-related syndrome by Service de Génétique Moléculaire,Hôpital Robert Debré

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_001374258.1(BRAF):c.1575G>T (p.Leu525Phe) rs180177036
NM_002755.3(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_004333.6(BRAF):c.1495A>C (p.Lys499Gln)
NM_004333.6(BRAF):c.1781A>T (p.Asp594Val) rs121913338
NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile) rs121913375
NM_004333.6(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_005343.4(HRAS):c.188_230dup (p.Phe78fs)
NM_005343.4(HRAS):c.203G>A (p.Arg68Gln) rs730880461
NM_030662.3(MAP2K2):c.26T>C (p.Leu9Pro) rs758307267
NM_030662.3(MAP2K2):c.692G>T (p.Arg231Leu) rs730880511
NM_030662.4(MAP2K2):c.1109A>G (p.Lys370Arg)
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241
NM_030662.4(MAP2K2):c.183A>T (p.Lys61Asn) rs886041310
NM_030662.4(MAP2K2):c.844C>T (p.Pro282Ser) rs142307980

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.