List of variants in gene GALC reported as uncertain significance for not provided

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: 86

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HGVS	dbSNP	gnomAD frequency
NM_000153.4(GALC):c.742G>A (p.Asp248Asn)	rs34362748	0.11424
NM_000153.4(GALC):c.997G>A (p.Gly333Arg)	rs190921137	0.00248
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)	rs147313927	0.00229
NM_000153.4(GALC):c.-318T>C	rs556647825	0.00210
NM_000153.4(GALC):c.525C>T (p.Val175=)	rs181066089	0.00199
NM_000153.4(GALC):c.-327G>T	rs185943390	0.00120
NM_000153.4(GALC):c.659G>A (p.Arg220Gln)	rs199967869	0.00107
NM_000153.2(GALC):c.-223C>T	rs181004720	0.00076
NM_000153.4(GALC):c.-67T>G	rs571945132	0.00070
NM_000153.4(GALC):c.349A>G (p.Met117Val)	rs145580093	0.00057
NM_000153.4(GALC):c.235C>T (p.Arg79Cys)	rs73312829	0.00041
NM_000153.4(GALC):c.49A>G (p.Met17Val)	rs376662045	0.00029
NM_000153.4(GALC):c.1717A>G (p.Thr573Ala)	rs200219480	0.00023
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)	rs183105855	0.00019
NM_000153.4(GALC):c.266C>T (p.Pro89Leu)	rs201422931	0.00014
NM_000153.4(GALC):c.1567C>A (p.Pro523Thr)	rs370952794	0.00013
NM_000153.4(GALC):c.328+6A>G	rs201977747	0.00011
NM_000153.4(GALC):c.1042A>T (p.Thr348Ser)	rs200516260	0.00009
NM_000153.4(GALC):c.1803A>G (p.Ala601=)	rs372465848	0.00009
NM_000153.4(GALC):c.206G>A (p.Arg69Gln)	rs371523347	0.00006
NM_000153.4(GALC):c.53C>T (p.Thr18Ile)	rs755139799	0.00006
NM_000153.4(GALC):c.1709C>A (p.Thr570Asn)	rs540808138	0.00004
NM_000153.4(GALC):c.1861C>T (p.Arg621Cys)	rs755930402	0.00004
NM_000153.4(GALC):c.196-9T>C	rs776907825	0.00004
NM_000153.4(GALC):c.2041G>A (p.Val681Met)	rs200607029	0.00004
NM_000153.4(GALC):c.226G>A (p.Glu76Lys)	rs778447883	0.00004
NM_000153.4(GALC):c.332G>A (p.Gly111Asp)	rs746487628	0.00004
NM_000153.4(GALC):c.500A>G (p.Asn167Ser)	rs768993170	0.00004
NM_000153.4(GALC):c.788C>G (p.Ala263Gly)	rs1292976689	0.00003
NM_000153.4(GALC):c.448C>T (p.Pro150Ser)	rs372568602	0.00002
NM_000153.4(GALC):c.909-10A>G	rs398123178	0.00002
NM_000153.4(GALC):c.1027G>T (p.Val343Leu)	rs753217734	0.00001
NM_000153.4(GALC):c.118G>A (p.Gly40Ser)	rs780050514	0.00001
NM_000153.4(GALC):c.1418G>A (p.Arg473His)	rs374868151	0.00001
NM_000153.4(GALC):c.1896C>G (p.Leu632=)	rs1884764241	0.00001
NM_000153.4(GALC):c.1912G>A (p.Gly638Ser)	rs769851272	0.00001
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro)	rs1249991480	0.00001
NM_000153.4(GALC):c.1997T>C (p.Ile666Thr)	rs1461381844	0.00001
NM_000153.4(GALC):c.251A>G (p.Asp84Gly)	rs1555383882	0.00001
NM_000153.4(GALC):c.287A>G (p.His96Arg)	rs748593957	0.00001
NM_000153.4(GALC):c.428A>G (p.Asn143Ser)	rs753623482	0.00001
NM_000153.4(GALC):c.486C>A (p.Asp162Glu)	rs767286511	0.00001
NM_000153.4(GALC):c.583-6T>A	rs398123176	0.00001
NM_000153.4(GALC):c.592G>A (p.Glu198Lys)	rs909979938	0.00001
GRCh37/hg19 14q31.3(chr14:88399247-88419358)x1
GRCh37/hg19 14q31.3(chr14:88399622-88422569)x1
NM_000153.4(GALC):c.-80_-75delATCAGC	rs564526560
NM_000153.4(GALC):c.1109_1110delinsCG (p.Tyr370Ser)
NM_000153.4(GALC):c.1114G>T (p.Ala372Ser)	rs759286485
NM_000153.4(GALC):c.1158_1161+6del	rs759068540
NM_000153.4(GALC):c.1338G>C (p.Trp446Cys)	rs2139961409
NM_000153.4(GALC):c.1355G>A (p.Gly452Asp)	rs1057520151
NM_000153.4(GALC):c.1459C>T (p.Pro487Ser)
NM_000153.4(GALC):c.1468T>G (p.Tyr490Asp)
NM_000153.4(GALC):c.1634C>A (p.Ala545Glu)	rs1289015582
NM_000153.4(GALC):c.16C>T (p.Leu6Phe)
NM_000153.4(GALC):c.1835C>T (p.Ala612Val)
NM_000153.4(GALC):c.1872_1888del (p.Thr625fs)	rs1884764754
NM_000153.4(GALC):c.1886G>T (p.Trp629Leu)	rs1566967736
NM_000153.4(GALC):c.196-4_196-3del	rs561184126
NM_000153.4(GALC):c.1999G>A (p.Gly667Arg)
NM_000153.4(GALC):c.2036_2040del (p.Phe679fs)	rs2139925505
NM_000153.4(GALC):c.2037_2040del (p.Phe679fs)	rs754507781
NM_000153.4(GALC):c.2037dup (p.Leu680fs)	rs2139925538
NM_000153.4(GALC):c.2039T>C (p.Leu680Pro)
NM_000153.4(GALC):c.2053C>T (p.Arg685Cys)
NM_000153.4(GALC):c.298G>A (p.Val100Met)
NM_000153.4(GALC):c.308G>T (p.Gly103Val)	rs1567014169
NM_000153.4(GALC):c.328+3A>G	rs377682096
NM_000153.4(GALC):c.328G>A (p.Asp110Asn)
NM_000153.4(GALC):c.365A>G (p.Asp122Gly)
NM_000153.4(GALC):c.398TGA[1] (p.Met134del)	rs1886979623
NM_000153.4(GALC):c.41C>G (p.Ala14Gly)	rs373587692
NM_000153.4(GALC):c.479G>C (p.Gly160Ala)
NM_000153.4(GALC):c.49A>C (p.Met17Leu)	rs376662045
NM_000153.4(GALC):c.606T>G (p.Asn202Lys)
NM_000153.4(GALC):c.621+6T>C
NM_000153.4(GALC):c.621G>A (p.Lys207=)	rs1428763453
NM_000153.4(GALC):c.65G>A (p.Gly22Asp)	rs372285275
NM_000153.4(GALC):c.680A>G (p.Asp227Gly)	rs1886495923
NM_000153.4(GALC):c.709A>G (p.Met237Val)
NM_000153.4(GALC):c.718G>A (p.Asp240Asn)	rs2140016138
NM_000153.4(GALC):c.847A>G (p.Met283Val)	rs2140001597
NM_000153.4(GALC):c.973A>G (p.Met325Val)	rs772190761
NM_000153.4(GALC):c.977C>T (p.Thr326Met)
NM_000153.4(GALC):c.991T>C (p.Trp331Arg)	rs2139996182

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