List of variants in gene NOTCH2 reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP
NM_024408.4(NOTCH2):c.1079_1081del (p.Phe360del)	rs1570701950
NM_024408.4(NOTCH2):c.1663G>A (p.Glu555Lys)	rs1475043862
NM_024408.4(NOTCH2):c.390G>A (p.Glu130=)	rs782723019
NM_024408.4(NOTCH2):c.4692C>G (p.Ser1564Arg)	rs774541297
NM_024408.4(NOTCH2):c.5731C>T (p.Arg1911Cys)	rs748716440
NM_024408.4(NOTCH2):c.6767G>A (p.Arg2256His)	rs148759277
NM_024408.4(NOTCH2):c.6837T>C (p.His2279=)	rs886044699
NM_024408.4(NOTCH2):c.786T>C (p.Asp262=)	rs374224226

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.