List of variants reported as likely pathogenic for Multiple endocrine neoplasia, type 2

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: 19

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)	rs146646971	0.00003
NM_020975.6(RET):c.1996A>G (p.Lys666Glu)	rs143795581	0.00001
NC_000010.10:g.(?_43595901)_(43598083_?)del
NC_000010.11:g.(?_43100449)_(43102639_?)del
NM_020975.6(RET):c.1522+2T>C	rs2132777891
NM_020975.6(RET):c.1622G>A (p.Cys541Tyr)
NM_020975.6(RET):c.1858T>A (p.Cys620Ser)	rs77316810
NM_020975.6(RET):c.1879+1G>A	rs1588873476
NM_020975.6(RET):c.1947G>A (p.Ser649=)	rs377767412
NM_020975.6(RET):c.1998G>C (p.Lys666Asn)	rs146646971
NM_020975.6(RET):c.1998delinsTTCT (p.Lys666delinsAsnSer)	rs377767440
NM_020975.6(RET):c.2136+2T>G
NM_020975.6(RET):c.2304_2307delinsCCTT (p.Glu768Asp)
NM_020975.6(RET):c.2410G>C (p.Val804Leu)	rs79658334
NM_020975.6(RET):c.2752A>G (p.Met918Val)	rs377767442
NM_020975.6(RET):c.3040-2A>G	rs2133032257
NM_020975.6(RET):c.74-2A>T	rs2132656224
NM_020975.6(RET):c.95C>T (p.Ser32Leu)	rs76764689
NM_020975.6(RET):c.989G>A (p.Arg330Gln)	rs80236571

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.