ClinVar Miner

List of variants in gene FIG4 reported as pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_014845.5(FIG4):c.1207C>T (p.Gln403Ter) rs879253926
NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) rs121908287
NM_014845.5(FIG4):c.1373dup (p.Leu458fs) rs770043095
NM_014845.5(FIG4):c.2212C>T (p.Gln738Ter) rs774799167
NM_014845.5(FIG4):c.2459+1G>A rs747768373
NM_014845.5(FIG4):c.547C>T (p.Arg183Ter) rs121908288
NM_014845.5(FIG4):c.793C>T (p.Arg265Ter) rs774294963
NM_014845.5(FIG4):c.831_838del (p.Lys278fs) rs786200937

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.