List of variants studied for Charcot-Marie-Tooth disease by Kariminejad - Najmabadi Pathology & Genetics Center

Minimum submission review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP
NM_000166.6(GJB1):c.370A>G (p.Lys124Glu)	rs1555937161
NM_001005361.3(DNM2):c.869G>A (p.Arg290Gln)	rs117398902
NM_001145809.2(MYH14):c.3514C>T (p.Arg1172Trp)	rs373919106
NM_002180.2(IGHMBP2):c.449+1G>T	rs797044802
NM_004281.3(BAG3):c.626C>T (p.Pro209Leu)	rs121918312
NM_006158.4(NEFL):c.803T>C (p.Leu268Pro)	rs62636502
NM_006158.4(NEFL):c.837G>A (p.Trp279Ter)	rs1586128169
NM_014874.3(MFN2):c.334G>A (p.Val112Met)	rs757937208
NM_014874.3(MFN2):c.839G>A (p.Arg280His)	rs28940294
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu)	rs538412810
NM_018972.4(GDAP1):c.602A>G (p.Asn201Ser)	rs1586806110
NM_018972.4(GDAP1):c.802_803del (p.Trp268fs)	rs765346218
NM_020956.2(PRX):c.*1295C>T	rs144183238
NM_024577.4(SH3TC2):c.1712T>C (p.Leu571Pro)	rs1580900970
NM_139241.3(FGD4):c.1525_1527del (p.Lys509del)	rs1565920164
NM_170707.4(LMNA):c.1696C>G (p.His566Asp)	rs1195284382

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.