ClinVar Miner

List of variants reported as likely pathogenic by Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
NM_000051.4(ATM):c.8545C>T rs587778080
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_002693.2(POLG):c.2481-7C>T rs2307448
NM_004444.5(EPHB4):c.1405G>A (p.Val469Ile) rs775083333
NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) rs80359890
NM_024577.4(SH3TC2):c.3380G>A rs139192433
NM_030962.3(SBF2):c.2197C>G (p.Gln733Glu) rs145199888
NM_030962.3(SBF2):c.2323G>A (p.Gly775Ser) rs141330687
NM_030962.3(SBF2):c.2476G>A (p.Val826Ile) rs1564917788
NM_181882.3(PRX):c.1905A>C (p.Lys635Asn)

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.