List of variants in gene GALT reported as uncertain significance 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: 45

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HGVS	dbSNP	gnomAD frequency
NM_000155.4(GALT):c.611G>A (p.Arg204Gln)	rs111033740	0.00005
NM_000155.4(GALT):c.667C>T (p.Arg223Cys)	rs111033750	0.00005
NM_000155.4(GALT):c.1059+11A>G	rs886042405	0.00002
NM_000155.4(GALT):c.329-19T>C	rs886042082	0.00001
NM_000155.4(GALT):c.379A>G (p.Lys127Glu)	rs111033682	0.00001
NM_000155.4(GALT):c.387G>A (p.Met129Ile)	rs780621729	0.00001
NM_000155.4(GALT):c.508-12C>G	rs727503947	0.00001
NM_000155.4(GALT):c.539G>A (p.Cys180Tyr)	rs111033844	0.00001
NM_000155.4(GALT):c.564+7G>A	rs760189807	0.00001
NM_000155.4(GALT):c.752A>C (p.Tyr251Ser)	rs111033755	0.00001
NM_000155.4(GALT):c.820+4A>C	rs398123186	0.00001
NM_000155.4(GALT):c.875C>T (p.Thr292Met)	rs369227288	0.00001
NM_000155.4(GALT):c.958G>A (p.Ala320Thr)	rs111033795	0.00001
NM_000155.4(GALT):c.1006A>G (p.Met336Val)	rs111033810
NM_000155.4(GALT):c.1049C>T (p.Thr350Ile)	rs775317639
NM_000155.4(GALT):c.1081C>T (p.Leu361Phe)	rs886042069
NM_000155.4(GALT):c.277T>A (p.Phe93Ile)	rs886042059
NM_000155.4(GALT):c.291C>T (p.Asn97=)	rs398123180
NM_000155.4(GALT):c.328+33G>C	rs767197888
NM_000155.4(GALT):c.341A>C (p.His114Pro)	rs111033678
NM_000155.4(GALT):c.377+17C>T	rs188599777
NM_000155.4(GALT):c.377+7A>C	rs376026879
NM_000155.4(GALT):c.389G>A (p.Cys130Tyr)	rs367543255
NM_000155.4(GALT):c.405G>A (p.Ser135=)	rs141232328
NM_000155.4(GALT):c.406G>T (p.Asp136Tyr)	rs794727699
NM_000155.4(GALT):c.449TTG[1] (p.Val151del)	rs886043735
NM_000155.4(GALT):c.507+5G>A	rs886043775
NM_000155.4(GALT):c.520A>C (p.Lys174Gln)	rs1564101431
NM_000155.4(GALT):c.562C>A (p.Gln188Lys)	rs398123182
NM_000155.4(GALT):c.587C>T (p.Pro196Leu)	rs886042066
NM_000155.4(GALT):c.605A>C (p.Glu202Ala)	rs886042062
NM_000155.4(GALT):c.652C>G (p.Leu218Val)	rs2070075
NM_000155.4(GALT):c.683G>C (p.Arg228Thr)	rs373048062
NM_000155.4(GALT):c.74G>C (p.Arg25Pro)	rs886042099
NM_000155.4(GALT):c.793C>G (p.Pro265Ala)	rs111033764
NM_000155.4(GALT):c.812A>G (p.Glu271Gly)	rs111033765
NM_000155.4(GALT):c.815G>A (p.Arg272His)	rs111033831
NM_000155.4(GALT):c.817G>C (p.Asp273His)	rs886042071
NM_000155.4(GALT):c.820+26G>A	rs886042077
NM_000155.4(GALT):c.83-3C>G	rs794727235
NM_000155.4(GALT):c.833T>C (p.Ile278Thr)	rs111033778
NM_000155.4(GALT):c.864C>A (p.Asn288Lys)	rs372134800
NM_000155.4(GALT):c.885_886insATGGCGTCCTTTCCC (p.Pro295_Tyr296insMetAlaSerPhePro)	rs886043498
NM_000155.4(GALT):c.893T>C (p.Met298Thr)	rs886042064
NM_000155.4(GALT):c.902A>G (p.His301Arg)	rs886042065

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