List of variants in gene GALC reported as benign for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 48

Download table as spreadsheet

HGVS	dbSNP
GRCh37/hg19 14q31.3(chr14:88382306-88419358)x1
GRCh37/hg19 14q31.3(chr14:88399247-88420282)x1
GRCh37/hg19 14q31.3(chr14:88399488-88422442)x1
NM_000153.4(GALC):c.1033+145A>G	rs17760463
NM_000153.4(GALC):c.1034-125G>C	rs17760374
NM_000153.4(GALC):c.1034-270A>G	rs78508589
NM_000153.4(GALC):c.1034-314A>G	rs17687144
NM_000153.4(GALC):c.1072C>T (p.Leu358=)	rs74073730
NM_000153.4(GALC):c.1161+301C>T	rs3906822
NM_000153.4(GALC):c.1162-152G>A	rs443019
NM_000153.4(GALC):c.1162-197T>C	rs428542
NM_000153.4(GALC):c.1162-4del	rs11300320
NM_000153.4(GALC):c.1252-115T>C	rs440426
NM_000153.4(GALC):c.1252-166G>A	rs451073
NM_000153.4(GALC):c.1338+159C>T	rs3213917
NM_000153.4(GALC):c.1338+23T>C	rs74076317
NM_000153.4(GALC):c.1350C>T (p.Ser450=)	rs398076
NM_000153.4(GALC):c.1490-233C>T	rs3910682
NM_000153.4(GALC):c.1670+204T>C	rs430536
NM_000153.4(GALC):c.1670+94A>G	rs444902
NM_000153.4(GALC):c.1671-15C>T	rs12432149
NM_000153.4(GALC):c.1671-319A>G	rs367125
NM_000153.4(GALC):c.1698A>T (p.Val566=)	rs421466
NM_000153.4(GALC):c.1834+5C>G	rs448805
NM_000153.4(GALC):c.1911+122C>G	rs45567441
NM_000153.4(GALC):c.1911+129G>A	rs45626938
NM_000153.4(GALC):c.1912-170C>T	rs433764
NM_000153.4(GALC):c.1912-220T>G	rs390474
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala)	rs421262
NM_000153.4(GALC):c.195+164G>A	rs78727833
NM_000153.4(GALC):c.196-201del	rs112118889
NM_000153.4(GALC):c.196-3del	rs561184126
NM_000153.4(GALC):c.328+19T>A	rs74337989
NM_000153.4(GALC):c.330C>T (p.Asp110=)	rs11552556
NM_000153.4(GALC):c.42G>C (p.Ala14=)	rs112992946
NM_000153.4(GALC):c.583-288G>A	rs74563284
NM_000153.4(GALC):c.61G>C (p.Ala21Pro)	rs111887056
NM_000153.4(GALC):c.621+24T>C	rs45568734
NM_000153.4(GALC):c.622-137CAAA[4]	rs146880216
NM_000153.4(GALC):c.622-162del	rs112016425
NM_000153.4(GALC):c.622-175C>T	rs111931900
NM_000153.4(GALC):c.622-273G>A	rs148708614
NM_000153.4(GALC):c.622-284C>T	rs112469201
NM_000153.4(GALC):c.752+199A>T	rs4904409
NM_000153.4(GALC):c.75C>A (p.Gly25=)	rs111976362
NM_000153.4(GALC):c.908+270T>A	rs397644
NM_000153.4(GALC):c.984G>A (p.Gln328=)	rs12888666
NM_001201402.2(GALC):c.117+71T>C	rs76999174

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.