ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NC_000014.9:g.(?_87934712)_(87949951_?)del
NC_000014.9:g.(?_87949835)_(87949941_?)del
NC_000014.9:g.(?_87963374)_(87963521_?)dup
NC_000014.9:g.(?_87965495)_(87968500_?)dup
NM_000153.4(GALC):c.1033+1G>A
NM_000153.4(GALC):c.1161+1del rs1555381417
NM_000153.4(GALC):c.1252-2A>G
NM_000153.4(GALC):c.1591C>T (p.Arg531Cys) rs749893889
NM_000153.4(GALC):c.1898C>T (p.Thr633Met)
NM_000153.4(GALC):c.195G>C (p.Gly65=) rs886042057
NM_000153.4(GALC):c.1987del (p.Trp663fs)
NM_000153.4(GALC):c.200C>T (p.Thr67Ile)
NM_000153.4(GALC):c.2036_2040del (p.Phe679fs)
NM_000153.4(GALC):c.2056T>C (p.Ter686Gln)
NM_000153.4(GALC):c.264+1G>A
NM_000153.4(GALC):c.331G>A (p.Gly111Ser) rs756690487
NM_000153.4(GALC):c.349A>C (p.Met117Leu)
NM_000153.4(GALC):c.443-1G>C
NM_000153.4(GALC):c.443-2A>G rs1595236714
NM_000153.4(GALC):c.560A>T (p.Asp187Val) rs997021099
NM_000153.4(GALC):c.582+1G>A
NM_000153.4(GALC):c.752+1G>A
NM_000153.4(GALC):c.860G>A (p.Cys287Tyr)
NM_000153.4(GALC):c.868C>T (p.Arg290Cys) rs780750448

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.