ClinVar Miner

List of variants in gene MTMR2 reported as pathogenic for Charcot-Marie-Tooth disease

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
MTMR2, IVS13, G-A, +1
NM_016156.5(MTMR2):c.1034del (p.Asn345fs) rs863224516
NM_016156.5(MTMR2):c.1164G>A (p.Trp388Ter) rs1555060024
NM_016156.5(MTMR2):c.1276C>T (p.Gln426Ter) rs121434402
NM_016156.5(MTMR2):c.1444C>T (p.Gln482Ter) rs121434404
NM_016156.5(MTMR2):c.1454_1457del (p.Asp485fs) rs1590974596
NM_016156.5(MTMR2):c.1479+1G>A rs1590974546
NM_016156.5(MTMR2):c.1768C>T (p.Gln590Ter) rs1565342506
NM_016156.5(MTMR2):c.454_458del (p.Glu152fs) rs1590997023
NM_016156.5(MTMR2):c.826G>T (p.Glu276Ter) rs121434403
NM_016156.5(MTMR2):c.832C>T (p.Gln278Ter) rs757563721
NM_016156.6(MTMR2):c.1090C>T (p.Arg364Ter) rs776757548
NM_016156.6(MTMR2):c.1239_1240del (p.Val414fs)
NM_016156.6(MTMR2):c.1362_1363del (p.Ser455fs)
NM_016156.6(MTMR2):c.1490dup (p.Phe498fs) rs1590971080
NM_016156.6(MTMR2):c.1591G>T (p.Glu531Ter)
NM_016156.6(MTMR2):c.430C>T (p.Arg144Ter)
NM_016156.6(MTMR2):c.874del (p.Ser292fs)
NM_016156.6(MTMR2):c.883C>T (p.Arg295Ter) rs1171462240
NM_201278.3(MTMR2):c.1319_1320TA[3] (p.Ser442fs) rs1555057316
NM_201278.3(MTMR2):c.244_245GT[2] (p.Val82_Cys83insTer) rs1358449243

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.