List of variants in gene GALT reported as pathogenic for classic galactosemia

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: 158

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HGVS	dbSNP	gnomAD frequency
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)	rs2070074	0.07150
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)	rs75391579	0.00192
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)	rs111033690	0.00094
NM_000155.4(GALT):c.855G>T (p.Lys285Asn)	rs111033773	0.00017
NM_000155.4(GALT):c.584T>C (p.Leu195Pro)	rs111033728	0.00006
NM_000155.4(GALT):c.253-2A>G	rs111033661	0.00005
NM_000155.4(GALT):c.667C>T (p.Arg223Cys)	rs111033750	0.00005
NM_000155.4(GALT):c.1006A>T (p.Met336Leu)	rs111033810	0.00004
NM_000155.4(GALT):c.512T>C (p.Phe171Ser)	rs111033715	0.00004
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys)	rs111033814	0.00003
NM_000155.4(GALT):c.292G>A (p.Asp98Asn)	rs111033670	0.00003
NM_000155.4(GALT):c.413C>T (p.Thr138Met)	rs111033686	0.00003
NM_000155.4(GALT):c.442C>T (p.Arg148Trp)	rs111033693	0.00003
NM_000155.4(GALT):c.602G>A (p.Arg201His)	rs111033735	0.00003
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys)	rs111033744	0.00002
NM_000155.4(GALT):c.997C>G (p.Arg333Gly)	rs111033800	0.00002
NM_000155.4(GALT):c.1014C>G (p.Gly338=)	rs111033811	0.00001
NM_000155.4(GALT):c.1138T>C (p.Ter380Arg)	rs111033824	0.00001
NM_000155.4(GALT):c.2T>G (p.Met1Arg)	rs771702963	0.00001
NM_000155.4(GALT):c.307C>T (p.Gln103Ter)	rs1225091358	0.00001
NM_000155.4(GALT):c.329-2A>C	rs111033667	0.00001
NM_000155.4(GALT):c.367C>G (p.Arg123Gly)	rs111033674	0.00001
NM_000155.4(GALT):c.377+2dup	rs763662108	0.00001
NM_000155.4(GALT):c.379A>G (p.Lys127Glu)	rs111033682	0.00001
NM_000155.4(GALT):c.396C>A (p.His132Gln)	rs367543256	0.00001
NM_000155.4(GALT):c.425T>A (p.Met142Lys)	rs111033695	0.00001
NM_000155.4(GALT):c.443G>A (p.Arg148Gln)	rs111033694	0.00001
NM_000155.4(GALT):c.556C>T (p.His186Tyr)	rs111033725	0.00001
NM_000155.4(GALT):c.575G>A (p.Ser192Asn)	rs111033734	0.00001
NM_000155.4(GALT):c.601C>T (p.Arg201Cys)	rs111033739	0.00001
NM_000155.4(GALT):c.607G>A (p.Glu203Lys)	rs111033736	0.00001
NM_000155.4(GALT):c.610C>T (p.Arg204Ter)	rs111033737	0.00001
NM_000155.4(GALT):c.691C>T (p.Arg231Cys)	rs111033749	0.00001
NM_000155.4(GALT):c.692G>A (p.Arg231His)	rs111033754	0.00001
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)	rs368166217	0.00001
NM_000155.4(GALT):c.775C>T (p.Arg259Trp)	rs786204763	0.00001
NM_000155.4(GALT):c.814C>T (p.Arg272Cys)	rs111033766	0.00001
NM_000155.4(GALT):c.821-7A>G	rs767337193	0.00001
NM_000155.4(GALT):c.883C>A (p.Pro295Thr)	rs111033783	0.00001
NM_000155.4(GALT):c.938G>A (p.Trp313Ter)	rs1410159094	0.00001
NM_000155.4(GALT):c.947G>A (p.Trp316Ter)	rs111033790	0.00001
NM_000155.4(GALT):c.958G>A (p.Ala320Thr)	rs111033795	0.00001
NM_000155.4(GALT):c.961C>T (p.His321Tyr)	rs367543266	0.00001
NM_000155.4(GALT):c.974C>T (p.Pro325Leu)	rs111033794	0.00001
NM_000155.4(GALT):c.982C>T (p.Arg328Cys)	rs144993986	0.00001
NM_000155.4(GALT):c.983G>A (p.Arg328His)	rs111033802	0.00001
NM_000155.4(GALT):c.998G>A (p.Arg333Gln)	rs111033808	0.00001
NC000009.12:g.(34646588_34655077)del
NC_000009.11:g.(?_34646573)_(34650446_?)del
NC_000009.12:g.(?_34645559)_(34648914_?)del
NC_000009.12:g.(?_34645559)_(34649574_?)del
NM_000155.2(GALT):c.-119_-116delGTCA	rs111033640
NM_000155.2(GALT):c.[940A>G;-119_-116delGTCA]
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
NM_000155.4(GALT):c.1001A>G (p.Lys334Arg)	rs111033809
NM_000155.4(GALT):c.1006A>G (p.Met336Val)	rs111033810
NM_000155.4(GALT):c.1018G>T (p.Glu340Ter)	rs111033806
NM_000155.4(GALT):c.1030C>T (p.Gln344Ter)	rs111033814
NM_000155.4(GALT):c.1048del (p.Thr350fs)	rs775762045
NM_000155.4(GALT):c.1049C>T (p.Thr350Ile)	rs775317639
NM_000155.4(GALT):c.1052del (p.Pro351fs)	rs111033813
NM_000155.4(GALT):c.1054G>C (p.Glu352Gln)
NM_000155.4(GALT):c.1057C>T (p.Gln353Ter)	rs111033818
NM_000155.4(GALT):c.1140A>C (p.Ter380Cys)	rs111033827
NM_000155.4(GALT):c.18del (p.Asp7fs)	rs111033638
NM_000155.4(GALT):c.1A>C (p.Met1Leu)
NM_000155.4(GALT):c.1A>G (p.Met1Val)	rs111033639
NM_000155.4(GALT):c.260C>G (p.Pro87Arg)
NM_000155.4(GALT):c.262dup (p.Gln88fs)
NM_000155.4(GALT):c.267C>G (p.Tyr89Ter)
NM_000155.4(GALT):c.289_291del (p.Asn97del)	rs398123179
NM_000155.4(GALT):c.290A>G (p.Asn97Ser)	rs111033669
NM_000155.4(GALT):c.292G>C (p.Asp98His)	rs111033670
NM_000155.4(GALT):c.2T>C (p.Met1Thr)	rs771702963
NM_000155.4(GALT):c.327del (p.Gly110fs)	rs2132342518
NM_000155.4(GALT):c.328+2T>C	rs111033849
NM_000155.4(GALT):c.359del (p.Lys120fs)	rs1821141007
NM_000155.4(GALT):c.367C>T (p.Arg123Ter)	rs111033674
NM_000155.4(GALT):c.368G>A (p.Arg123Gln)	rs111033675
NM_000155.4(GALT):c.377+1G>A
NM_000155.4(GALT):c.377+1G>T	rs111033681
NM_000155.4(GALT):c.377+53_1059+87del
NM_000155.4(GALT):c.382G>A (p.Val128Ile)
NM_000155.4(GALT):c.384_388del (p.Met129fs)	rs2132343017
NM_000155.4(GALT):c.400del (p.Trp134fs)	rs111033689
NM_000155.4(GALT):c.404C>G (p.Ser135Trp)	rs111033690
NM_000155.4(GALT):c.40_41insT (p.Ala14fs)	rs1821111380
NM_000155.4(GALT):c.424A>G (p.Met142Val)	rs111033692
NM_000155.4(GALT):c.425T>C (p.Met142Thr)	rs111033695
NM_000155.4(GALT):c.428C>G (p.Ser143Trp)	rs111033697
NM_000155.4(GALT):c.428C>T (p.Ser143Leu)	rs111033697
NM_000155.4(GALT):c.439A>G (p.Ile147Val)
NM_000155.4(GALT):c.452T>C (p.Val151Ala)	rs111033701
NM_000155.4(GALT):c.460T>C (p.Trp154Arg)	rs111033702
NM_000155.4(GALT):c.462G>A (p.Trp154Ter)	rs111033704
NM_000155.4(GALT):c.465_474dup (p.Glu159fs)
NM_000155.4(GALT):c.467C>A (p.Ser156Ter)	rs766896883
NM_000155.4(GALT):c.501G>A (p.Trp167Ter)
NM_000155.4(GALT):c.502G>A (p.Val168Met)	rs367543258
NM_000155.4(GALT):c.502G>T (p.Val168Leu)	rs367543258
NM_000155.4(GALT):c.505C>A (p.Gln169Lys)	rs111033709
NM_000155.4(GALT):c.507G>C (p.Gln169His)
NM_000155.4(GALT):c.508-2_509del	rs2132343638
NM_000155.4(GALT):c.513del (p.Phe171fs)	rs886044409
NM_000155.4(GALT):c.524G>A (p.Gly175Asp)	rs111033718
NM_000155.4(GALT):c.530T>C (p.Met177Thr)	rs2132343692
NM_000155.4(GALT):c.547C>A (p.Pro183Thr)	rs111033721
NM_000155.4(GALT):c.550del (p.His184fs)
NM_000155.4(GALT):c.552C>A (p.His184Gln)	rs111033717
NM_000155.4(GALT):c.553C>T (p.Pro185Ser)	rs111033826
NM_000155.4(GALT):c.558C>G (p.His186Gln)	rs886042097
NM_000155.4(GALT):c.564+1G>A	rs111033723
NM_000155.4(GALT):c.576_589del (p.Ser192fs)	rs1198705438
NM_000155.4(GALT):c.580T>C (p.Phe194Leu)	rs111033726
NM_000155.4(GALT):c.598C>T (p.Gln200Ter)	rs1564101619
NM_000155.4(GALT):c.598del (p.Gln200fs)	rs111033738
NM_000155.4(GALT):c.616C>T (p.Gln206Ter)	rs1554709366
NM_000155.4(GALT):c.617A>G (p.Gln206Arg)	rs1587239309
NM_000155.4(GALT):c.619C>T (p.Gln207Ter)	rs111033743
NM_000155.4(GALT):c.626A>C (p.Tyr209Ser)	rs111033744
NM_000155.4(GALT):c.627T>A (p.Tyr209Ter)	rs1057516720
NM_000155.4(GALT):c.634C>T (p.Gln212Ter)	rs111033746
NM_000155.4(GALT):c.649_653dup (p.Met219fs)
NM_000155.4(GALT):c.650T>C (p.Leu217Pro)	rs111033741
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer)	rs111033742
NM_000155.4(GALT):c.665G>A (p.Ser222Asn)
NM_000155.4(GALT):c.667C>A (p.Arg223Ser)	rs111033750
NM_000155.4(GALT):c.684del (p.Lys229fs)	rs2132344399
NM_000155.4(GALT):c.708_709del (p.Ser236fs)	rs2132344913
NM_000155.4(GALT):c.717G>T (p.Trp239Cys)
NM_000155.4(GALT):c.719_728del (p.Leu240fs)	rs111033838
NM_000155.4(GALT):c.737G>A (p.Trp246Ter)	rs1821176206
NM_000155.4(GALT):c.747G>A (p.Trp249Ter)	rs111033758
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser)	rs886043390
NM_000155.4(GALT):c.761dup (p.Leu255fs)	rs747036550
NM_000155.4(GALT):c.772del (p.Arg258fs)	rs2132345023
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)	rs886042070
NM_000155.4(GALT):c.796G>T (p.Glu266Ter)	rs1821178833
NM_000155.4(GALT):c.812A>G (p.Glu271Gly)	rs111033765
NM_000155.4(GALT):c.813G>C (p.Glu271Asp)
NM_000155.4(GALT):c.814del (p.Arg272fs)	rs2132345163
NM_000155.4(GALT):c.815G>A (p.Arg272His)	rs111033831
NM_000155.4(GALT):c.82+2T>G
NM_000155.4(GALT):c.820+13A>G	rs111033768
NM_000155.4(GALT):c.821-2A>G	rs111033767
NM_000155.4(GALT):c.881T>A (p.Phe294Tyr)	rs111033781
NM_000155.4(GALT):c.894G>A (p.Met298Ile)	rs1821187550
NM_000155.4(GALT):c.899G>A (p.Trp300Ter)	rs1064794295
NM_000155.4(GALT):c.900G>A (p.Trp300Ter)	rs1034185619
NM_000155.4(GALT):c.904+1G>A	rs367543271
NM_000155.4(GALT):c.904+1G>T	rs367543271
NM_000155.4(GALT):c.912dup (p.Thr305fs)	rs746285782
NM_000155.4(GALT):c.948G>A (p.Trp316Ter)	rs111033791
NM_000155.4(GALT):c.949C>T (p.Gln317Ter)
NM_000155.4(GALT):c.957C>A (p.His319Gln)	rs111033792
NM_000155.4(GALT):c.957C>G (p.His319Gln)	rs111033792
NM_000155.4(GALT):c.997C>T (p.Arg333Trp)	rs111033800
NM_000155.4(GALT):c.[413C>T;469G>A]

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