ClinVar Miner

List of variants in gene GALC reported as likely pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
NM_000153.4(GALC):c.1031C>G (p.Ser344Ter) rs1555381559
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn) rs202135871
NM_000153.4(GALC):c.155del (p.Gly52fs) rs1064793131
NM_000153.4(GALC):c.173del (p.Ile58fs) rs1064795927
NM_000153.4(GALC):c.1897dup (p.Thr633fs) rs1555378538
NM_000153.4(GALC):c.195+1G>A rs1009872980

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.