List of variants reported as pathogenic for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase by OMIM

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

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP
NM_000155.4(GALT):c.130G>A (p.Val44Met)	rs111033647
NM_000155.4(GALT):c.221T>C (p.Leu74Pro)	rs111033663
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)	rs111033690
NM_000155.4(GALT):c.425T>A (p.Met142Lys)	rs111033695
NM_000155.4(GALT):c.512T>C (p.Phe171Ser)	rs111033715
NM_000155.4(GALT):c.547C>A (p.Pro183Thr)	rs111033721
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)	rs75391579
NM_000155.4(GALT):c.580T>C (p.Phe194Leu)	rs111033726
NM_000155.4(GALT):c.607G>A (p.Glu203Lys)	rs111033736
NM_000155.4(GALT):c.855G>T (p.Lys285Asn)	rs111033773
NM_000155.4(GALT):c.957C>A (p.His319Gln)	rs111033792
NM_000155.4(GALT):c.997C>G (p.Arg333Gly)	rs111033800
NM_000155.4(GALT):c.997C>T (p.Arg333Trp)	rs111033800

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.