List of variants reported as uncertain significance for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

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

Total variants: 100

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HGVS	dbSNP
NM_000155.3(GALT):c.-130_-129insCAGT	rs111033640
NM_000155.4(GALT):c.*105A>G
NM_000155.4(GALT):c.*138C>T
NM_000155.4(GALT):c.*18C>G
NM_000155.4(GALT):c.*8G>A	rs370285476
NM_000155.4(GALT):c.*96A>C
NM_000155.4(GALT):c.1006A>T (p.Met336Leu)	rs111033810
NM_000155.4(GALT):c.1008G>A (p.Met336Ile)
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn)	rs111033836
NM_000155.4(GALT):c.1018G>A (p.Glu340Lys)	rs111033806
NM_000155.4(GALT):c.1024C>A (p.Leu342Ile)	rs111033812
NM_000155.4(GALT):c.1049C>A (p.Thr350Asn)	rs775317639
NM_000155.4(GALT):c.1059+24G>A	rs111033840
NM_000155.4(GALT):c.1085C>T (p.Pro362Leu)
NM_000155.4(GALT):c.1087G>A (p.Glu363Lys)	rs367543273
NM_000155.4(GALT):c.1128A>T (p.Ala376=)	rs781374930
NM_000155.4(GALT):c.1132A>G (p.Ile378Val)	rs111033819
NM_000155.4(GALT):c.152G>A (p.Arg51Gln)	rs111033648
NM_000155.4(GALT):c.157T>A (p.Trp53Arg)	rs1131691837
NM_000155.4(GALT):c.157T>C (p.Trp53Arg)	rs1131691837
NM_000155.4(GALT):c.197C>T (p.Pro66Leu)	rs111033656
NM_000155.4(GALT):c.200G>A (p.Arg67His)	rs758430398
NM_000155.4(GALT):c.203A>G (p.His68Arg)	rs193922247
NM_000155.4(GALT):c.211C>T (p.Leu71Phe)
NM_000155.4(GALT):c.247G>A (p.Gly83Arg)	rs111033660
NM_000155.4(GALT):c.253-6C>T
NM_000155.4(GALT):c.270T>C (p.Asp90=)
NM_000155.4(GALT):c.27G>C (p.Gln9His)	rs111033637
NM_000155.4(GALT):c.292G>C (p.Asp98His)	rs111033670
NM_000155.4(GALT):c.295T>A (p.Phe99Ile)
NM_000155.4(GALT):c.309G>A (p.Gln103=)	rs367543253
NM_000155.4(GALT):c.328+33G>A
NM_000155.4(GALT):c.32G>A (p.Arg11His)	rs757632977
NM_000155.4(GALT):c.336T>G (p.Ser112Arg)	rs367543254
NM_000155.4(GALT):c.346C>A (p.Leu116Ile)	rs1554709252
NM_000155.4(GALT):c.367C>G (p.Arg123Gly)	rs111033674
NM_000155.4(GALT):c.378-12G>A
NM_000155.4(GALT):c.378-7C>T
NM_000155.4(GALT):c.389G>A (p.Cys130Tyr)	rs367543255
NM_000155.4(GALT):c.394C>T (p.His132Tyr)	rs111033688
NM_000155.4(GALT):c.405G>A (p.Ser135=)	rs141232328
NM_000155.4(GALT):c.409G>A (p.Val137Ile)
NM_000155.4(GALT):c.428C>T (p.Ser143Leu)	rs111033697
NM_000155.4(GALT):c.450T>A (p.Val150=)	rs886063884
NM_000155.4(GALT):c.452T>C (p.Val151Ala)	rs111033701
NM_000155.4(GALT):c.496C>G (p.Pro166Ala)	rs367543257
NM_000155.4(GALT):c.502_504del (p.Val168del)
NM_000155.4(GALT):c.507+10G>A	rs753052473
NM_000155.4(GALT):c.507+12C>T	rs199572263
NM_000155.4(GALT):c.508-29del	rs111033711
NM_000155.4(GALT):c.510C>A (p.Ile170=)	rs61735984
NM_000155.4(GALT):c.527C>T (p.Ala176Val)	rs1554709329
NM_000155.4(GALT):c.542C>A (p.Ser181Tyr)
NM_000155.4(GALT):c.547C>A (p.Pro183Thr)	rs111033721
NM_000155.4(GALT):c.550C>T (p.His184Tyr)
NM_000155.4(GALT):c.552C>A (p.His184Gln)	rs111033717
NM_000155.4(GALT):c.554C>T (p.Pro185Leu)	rs111033722
NM_000155.4(GALT):c.556C>T (p.His186Tyr)	rs111033725
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)	rs75391579
NM_000155.4(GALT):c.572C>A (p.Ala191Asp)	rs794727838
NM_000155.4(GALT):c.572C>T (p.Ala191Val)	rs794727838
NM_000155.4(GALT):c.587C>T (p.Pro196Leu)	rs886042066
NM_000155.4(GALT):c.590A>G (p.Asp197Gly)	rs1554709359
NM_000155.4(GALT):c.607G>A (p.Glu203Lys)	rs111033736
NM_000155.4(GALT):c.611G>A (p.Arg204Gln)	rs111033740
NM_000155.4(GALT):c.617A>G (p.Gln206Arg)	rs1587239309
NM_000155.4(GALT):c.630G>A (p.Lys210=)	rs367543260
NM_000155.4(GALT):c.652C>G (p.Leu218Val)	rs2070075
NM_000155.4(GALT):c.667C>T (p.Arg223Cys)	rs111033750
NM_000155.4(GALT):c.676C>G (p.Leu226Val)	rs111033751
NM_000155.4(GALT):c.687+9G>C	rs117998880
NM_000155.4(GALT):c.687G>A (p.Lys229=)	rs111033753
NM_000155.4(GALT):c.688-4C>T	rs374014228
NM_000155.4(GALT):c.752A>G (p.Tyr251Cys)	rs111033755
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)	rs368166217
NM_000155.4(GALT):c.773G>A (p.Arg258His)
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)	rs886042070
NM_000155.4(GALT):c.788G>A (p.Arg263Gln)	rs777023967
NM_000155.4(GALT):c.793C>G (p.Pro265Ala)	rs111033764
NM_000155.4(GALT):c.797A>G (p.Glu266Gly)
NM_000155.4(GALT):c.814C>T (p.Arg272Cys)	rs111033766
NM_000155.4(GALT):c.820+4A>C	rs398123186
NM_000155.4(GALT):c.827C>G (p.Ala276Gly)	rs1564102003
NM_000155.4(GALT):c.82G>A (p.Asp28Asn)	rs111033636
NM_000155.4(GALT):c.843G>A (p.Lys281=)	rs368298966
NM_000155.4(GALT):c.857A>G (p.Tyr286Cys)	rs367543262
NM_000155.4(GALT):c.864C>T (p.Asn288=)	rs372134800
NM_000155.4(GALT):c.883C>A (p.Pro295Thr)	rs111033783
NM_000155.4(GALT):c.887A>G (p.Tyr296Cys)	rs775789069
NM_000155.4(GALT):c.904+2T>G	rs886063885
NM_000155.4(GALT):c.919T>A (p.Ser307Thr)	rs61735983
NM_000155.4(GALT):c.936C>G (p.Asn312Lys)
NM_000155.4(GALT):c.957C>T (p.His319=)	rs111033792
NM_000155.4(GALT):c.961C>T (p.His321Tyr)	rs367543266
NM_000155.4(GALT):c.970C>T (p.Pro324Ser)	rs111033798
NM_000155.4(GALT):c.976C>T (p.Leu326Phe)
NM_000155.4(GALT):c.982C>T (p.Arg328Cys)	rs144993986
NM_001258332.1(GALT):c.-240G>A	rs886063883
NM_001258332.1(GALT):c.-290G>A
NM_001258332.1(GALT):c.-298T>G	rs1554709099

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