ClinVar Miner

List of variants in gene PLEKHG5 reported as pathogenic for Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
NM_020631.5(PLEKHG5):c.2053C>T (p.Gln685Ter) rs772217003
NM_020631.5(PLEKHG5):c.2377dup (p.Ala793fs) rs753593088
NM_020631.5(PLEKHG5):c.2542C>T (p.Arg848Ter) rs770593694
NM_020631.5(PLEKHG5):c.453_543del (p.Gly152fs) rs1569875704
NM_020631.6(PLEKHG5):c.1002del (p.Gln334fs)
NM_020631.6(PLEKHG5):c.1145_1146dup (p.Leu383fs)
NM_020631.6(PLEKHG5):c.1438_1439del (p.Met480fs)
NM_020631.6(PLEKHG5):c.1452_1453del (p.His485fs)
NM_020631.6(PLEKHG5):c.1788del (p.Lys597fs)
NM_020631.6(PLEKHG5):c.2149G>T (p.Glu717Ter)
NM_020631.6(PLEKHG5):c.2366_2367del (p.Leu789fs) rs759212541
NM_020631.6(PLEKHG5):c.779_780del (p.Thr260fs)
NM_020631.6(PLEKHG5):c.909C>A (p.Tyr303Ter)

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.