ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease type 2P by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
NM_001005373.4(LRSAM1):c.1144C>T (p.Arg382Ter)
NM_001005373.4(LRSAM1):c.1493_1494del (p.Glu498fs) rs1588132672
NM_001005373.4(LRSAM1):c.602dup (p.Leu201fs)
NM_001005373.4(LRSAM1):c.988C>T (p.Gln330Ter)
NM_138361.5(LRSAM1):c.109del (p.Ser37fs)
NM_138361.5(LRSAM1):c.1279C>T (p.Arg427Ter) rs138226428
NM_138361.5(LRSAM1):c.1333del (p.Gln445fs)
NM_138361.5(LRSAM1):c.1694del (p.Leu565fs) rs749012928
NM_138361.5(LRSAM1):c.1815del (p.Asp607fs)
NM_138361.5(LRSAM1):c.1913-1G>A rs756880678
NM_138361.5(LRSAM1):c.1957dup (p.Gln653fs) rs775965001
NM_138361.5(LRSAM1):c.2019dup (p.Glu674fs) rs1315010600
NM_138361.5(LRSAM1):c.2080T>C (p.Cys694Arg) rs759312530
NM_138361.5(LRSAM1):c.2093_2104del rs1554763017
NM_138361.5(LRSAM1):c.636C>G (p.Tyr212Ter) rs1345228128

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.