ClinVar Miner

List of variants in gene GALT reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 51
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HGVS dbSNP
NM_000155.3(GALT):c.100T>A (p.Tyr34Asn) rs111033836
NM_000155.3(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.3(GALT):c.1052delC (p.Pro351Leufs) rs111033813
NM_000155.3(GALT):c.1060-1G>A rs367543268
NM_000155.3(GALT):c.118G>A (p.Glu40Lys) rs886042060
NM_000155.3(GALT):c.199C>T (p.Arg67Cys) rs111033658
NM_000155.3(GALT):c.221T>C (p.Leu74Pro) rs111033663
NM_000155.3(GALT):c.253-2A>G rs111033661
NM_000155.3(GALT):c.265T>G (p.Tyr89Asp) rs111033666
NM_000155.3(GALT):c.290A>G (p.Asn97Ser) rs111033669
NM_000155.3(GALT):c.292G>A (p.Asp98Asn) rs111033670
NM_000155.3(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.3(GALT):c.307C>T (p.Gln103Ter) rs1225091358
NM_000155.3(GALT):c.367C>T (p.Arg123Ter)
NM_000155.3(GALT):c.386T>C (p.Met129Thr) rs111033683
NM_000155.3(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000155.3(GALT):c.41delCinsTT (p.Ala14Valfs) rs111033634
NM_000155.3(GALT):c.425T>A (p.Met142Lys) rs111033695
NM_000155.3(GALT):c.442C>T (p.Arg148Trp) rs111033693
NM_000155.3(GALT):c.443G>A (p.Arg148Gln) rs111033694
NM_000155.3(GALT):c.445dup (p.Ala149Glyfs) rs786200978
NM_000155.3(GALT):c.508-1G>C rs398123181
NM_000155.3(GALT):c.512T>C (p.Phe171Ser) rs111033715
NM_000155.3(GALT):c.513delT (p.Phe171Leufs) rs886044409
NM_000155.3(GALT):c.562C>T (p.Gln188Ter)
NM_000155.3(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000155.3(GALT):c.564+1G>A rs111033723
NM_000155.3(GALT):c.565_578delGTATGGGCCAGCAG (p.Val189Phefs) rs398123183
NM_000155.3(GALT):c.584T>C (p.Leu195Pro) rs111033728
NM_000155.3(GALT):c.598delC (p.Gln200Serfs) rs111033738
NM_000155.3(GALT):c.602G>A (p.Arg201His) rs111033735
NM_000155.3(GALT):c.607G>A (p.Glu203Lys) rs111033736
NM_000155.3(GALT):c.610C>T (p.Arg204Ter) rs111033737
NM_000155.3(GALT):c.619C>T (p.Gln207Ter) rs111033743
NM_000155.3(GALT):c.626A>G (p.Tyr209Cys) rs111033744
NM_000155.3(GALT):c.634C>T (p.Gln212Ter) rs111033746
NM_000155.3(GALT):c.688-2A>C rs398123185
NM_000155.3(GALT):c.691C>T (p.Arg231Cys) rs111033749
NM_000155.3(GALT):c.71_72insA (p.Phe24Leufs) rs886042061
NM_000155.3(GALT):c.772C>T (p.Arg258Cys) rs368166217
NM_000155.3(GALT):c.775C>T (p.Arg259Trp) rs786204763
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
NM_000155.3(GALT):c.82+2delT rs794726876
NM_000155.3(GALT):c.820+13A>G rs111033768
NM_000155.3(GALT):c.855G>T (p.Lys285Asn) rs111033773
NM_000155.3(GALT):c.904+1G>T rs367543271
NM_000155.3(GALT):c.905-1G>A rs794726971
NM_000155.3(GALT):c.905-2A>G rs398123187
NM_000155.3(GALT):c.957C>A (p.His319Gln) rs111033792
NM_000155.3(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_001258332.1(GALT):c.274C>T (p.Arg92Cys) rs111033739

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