ClinVar Miner

List of variants in gene GALT reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (161):
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Gene type:
ClinVar version:
Total variants: 115
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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.-11C>A
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.1055A>G (p.Glu352Gly)
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.1116C>T (p.Asp372=) rs757314660
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.172G>A (p.Glu58Lys) rs1554709147
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>A
NM_000155.4(GALT):c.253-6C>T
NM_000155.4(GALT):c.270T>C (p.Asp90=)
NM_000155.4(GALT):c.278T>C (p.Phe93Ser)
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.328+7T>C rs774350978
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.346C>G (p.Leu116Val)
NM_000155.4(GALT):c.367C>G (p.Arg123Gly) rs111033674
NM_000155.4(GALT):c.377+7A>G rs376026879
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.413C>G (p.Thr138Arg) rs111033686
NM_000155.4(GALT):c.419C>T (p.Pro140Leu)
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.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.715T>C (p.Trp239Arg) rs1336294207
NM_000155.4(GALT):c.752A>G (p.Tyr251Cys) rs111033755
NM_000155.4(GALT):c.754C>A (p.Gln252Lys) rs1564101859
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.844C>G (p.Leu282Val) rs111033772
NM_000155.4(GALT):c.851C>A (p.Thr284Asn) rs753364304
NM_000155.4(GALT):c.857A>G (p.Tyr286Cys) rs367543262
NM_000155.4(GALT):c.863A>G (p.Asn288Ser)
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.885_886insATGGCGTCCTTTCCC (p.Tyr296_Ser297insMetAlaSerPhePro) rs886043498
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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