List of variants in gene GALT reported as likely pathogenic by Eurofins NTD LLC (GA)

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000155.4(GALT):c.1014C>G (p.Gly338=)	rs111033811	0.00001
NM_000155.4(GALT):c.396C>A (p.His132Gln)	rs367543256	0.00001
NM_000155.4(GALT):c.1139G>C (p.Ter380Ser)	rs749047676
NM_000155.4(GALT):c.289A>G (p.Asn97Asp)	rs1564100957
NM_000155.4(GALT):c.289_291del (p.Asn97del)	rs398123179
NM_000155.4(GALT):c.291C>G (p.Asn97Lys)	rs398123180
NM_000155.4(GALT):c.558C>A (p.His186Gln)	rs886042097
NM_000155.4(GALT):c.568T>C (p.Trp190Arg)	rs398123184
NM_000155.4(GALT):c.572C>T (p.Ala191Val)	rs794727838
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser)	rs886043390
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)	rs886042070
NM_000155.4(GALT):c.844C>G (p.Leu282Val)	rs111033772
NM_000155.4(GALT):c.985T>C (p.Ser329Pro)	rs398123188

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.