Variants in gene GALT with conflicting interpretations "uncertain significance" and "pathogenic"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status:		Submission 2 (pathogenic) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)	rs2070074	0.07150
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)	rs75391579	0.00192
NM_000155.4(GALT):c.1006A>T (p.Met336Leu)	rs111033810	0.00004
NM_000155.4(GALT):c.265T>G (p.Tyr89Asp)	rs111033666	0.00001
NM_000155.4(GALT):c.377+2dup	rs763662108	0.00001
NM_000155.4(GALT):c.607G>A (p.Glu203Lys)	rs111033736	0.00001
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)	rs368166217	0.00001
NM_000155.4(GALT):c.814C>T (p.Arg272Cys)	rs111033766	0.00001
NM_000155.4(GALT):c.883C>A (p.Pro295Thr)	rs111033783	0.00001
NM_000155.4(GALT):c.961C>T (p.His321Tyr)	rs367543266	0.00001
NM_000155.2(GALT):c.-119_-116delGTCA	rs111033640
NM_000155.2(GALT):c.[940A>G;-119_-116delGTCA]
NM_000155.4(GALT):c.452T>C (p.Val151Ala)	rs111033701
NM_000155.4(GALT):c.547C>A (p.Pro183Thr)	rs111033721
NM_000155.4(GALT):c.552C>A (p.His184Gln)	rs111033717
NM_000155.4(GALT):c.598del (p.Gln200fs)	rs111033738
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)	rs886042070

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.