ClinVar Miner

List of variants reported as pathogenic for Hereditary liability to pressure palsies

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
GRCh37/hg19 17p12(chr17:14101029-15449627)
GRCh37/hg19 17p12(chr17:14104012-15551814)
GRCh37/hg19 17p12(chr17:14110451-15449097)
GRCh37/hg19 17p12(chr17:14128550-15422557)
GRCh37/hg19 2q13(chr2:110824957-110983703)
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr) rs104894623
NM_000304.4(PMP22):c.19_20del (p.Ser7fs) rs587776691
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe) rs104894625
PMP22, 1.1- to 1.5-MB DEL

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.