List of variants reported as pathogenic for endocrine gland neoplasm by Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)	rs75076352	0.00001
NM_001370259.2(MEN1):c.1174del (p.Glu392fs)	rs386134247
NM_001370259.2(MEN1):c.446-2A>C	rs886042035
NM_001370259.2(MEN1):c.548G>A (p.Trp183Ter)	rs794728650
NM_001370259.2(MEN1):c.725C>T (p.Ala242Val)	rs2136141530
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu)	rs386134259
NM_020975.6(RET):c.1832G>T (p.Cys611Phe)	rs377767397
NM_020975.6(RET):c.1852T>A (p.Cys618Ser)	rs76262710
NM_020975.6(RET):c.1852T>C (p.Cys618Arg)	rs76262710
NM_020975.6(RET):c.1858T>C (p.Cys620Arg)	rs77316810
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)	rs75996173
NM_020975.6(RET):c.2753T>C (p.Met918Thr)	rs74799832

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.