List of variants in gene GALC reported as uncertain significance by Invitae

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: 176

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HGVS	dbSNP	gnomAD frequency
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)	rs147313927	0.00229
NM_000153.4(GALC):c.235C>T (p.Arg79Cys)	rs73312829	0.00041
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.82G>A (p.Ala28Thr)	rs776663863	0.00011
NM_000153.4(GALC):c.1042A>T (p.Thr348Ser)	rs200516260	0.00009
NM_000153.4(GALC):c.1819G>T (p.Val607Phe)	rs929215561	0.00006
NM_000153.4(GALC):c.206G>A (p.Arg69Gln)	rs371523347	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.226G>A (p.Glu76Lys)	rs778447883	0.00004
NM_000153.4(GALC):c.1702A>G (p.Ile568Val)	rs371792183	0.00003
NM_000153.4(GALC):c.1946C>T (p.Ser649Phe)	rs1158521193	0.00003
NM_000153.4(GALC):c.2035T>C (p.Phe679Leu)	rs779202612	0.00003
NM_000153.4(GALC):c.23C>T (p.Ala8Val)	rs376511103	0.00003
NM_000153.4(GALC):c.434C>T (p.Thr145Ile)	rs781281519	0.00003
NM_000153.4(GALC):c.94C>A (p.Leu32Met)	rs770807058	0.00003
NM_000153.4(GALC):c.1453C>T (p.Pro485Ser)	rs771051919	0.00002
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.1172A>G (p.His391Arg)	rs1395397636	0.00001
NM_000153.4(GALC):c.1174T>C (p.Ser392Pro)	rs1200769534	0.00001
NM_000153.4(GALC):c.1184T>C (p.Ile395Thr)	rs569569879	0.00001
NM_000153.4(GALC):c.118G>A (p.Gly40Ser)	rs780050514	0.00001
NM_000153.4(GALC):c.1280A>G (p.Tyr427Cys)	rs201591903	0.00001
NM_000153.4(GALC):c.1418G>A (p.Arg473His)	rs374868151	0.00001
NM_000153.4(GALC):c.1441C>T (p.Pro481Ser)	rs759122249	0.00001
NM_000153.4(GALC):c.1760T>C (p.Ile587Thr)	rs368818550	0.00001
NM_000153.4(GALC):c.1871T>A (p.Val624Asp)	rs1308536313	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.233A>G (p.Tyr78Cys)	rs367958957	0.00001
NM_000153.4(GALC):c.443-12T>G	rs886038261	0.00001
NM_000153.4(GALC):c.583-6T>A	rs398123176	0.00001
NM_000153.4(GALC):c.752+3A>G	rs1567000413	0.00001
NM_000153.4(GALC):c.787G>A (p.Ala263Thr)	rs1308816724	0.00001
NM_000153.4(GALC):c.84G>A (p.Ala28=)	rs1246098637	0.00001
NM_000153.4(GALC):c.916G>A (p.Ala306Thr)	rs1349064845	0.00001
NM_000153.4(GALC):c.927A>C (p.Leu309Phe)	rs758904079	0.00001
NM_000153.4(GALC):c.949T>A (p.Leu317Met)	rs766071179	0.00001
NC_000014.8:g.(?_88416169)_(88459863_?)dup
NM_000153.4(GALC):c.103G>A (p.Ala35Thr)	rs1359964555
NM_000153.4(GALC):c.1049T>G (p.Phe350Cys)
NM_000153.4(GALC):c.1072C>G (p.Leu358Val)
NM_000153.4(GALC):c.1078A>G (p.Thr360Ala)	rs1298443144
NM_000153.4(GALC):c.1078A>T (p.Thr360Ser)
NM_000153.4(GALC):c.1081G>A (p.Val361Ile)
NM_000153.4(GALC):c.1109_1110delinsCG (p.Tyr370Ser)
NM_000153.4(GALC):c.1114G>A (p.Ala372Thr)	rs759286485
NM_000153.4(GALC):c.1114G>T (p.Ala372Ser)	rs759286485
NM_000153.4(GALC):c.1150A>G (p.Ile384Val)	rs1192791166
NM_000153.4(GALC):c.1159A>G (p.Met387Val)
NM_000153.4(GALC):c.1168A>G (p.Lys390Glu)	rs2139963715
NM_000153.4(GALC):c.119G>A (p.Gly40Asp)	rs572947747
NM_000153.4(GALC):c.119G>C (p.Gly40Ala)
NM_000153.4(GALC):c.1202A>G (p.Tyr401Cys)
NM_000153.4(GALC):c.1206C>G (p.Phe402Leu)
NM_000153.4(GALC):c.1208A>G (p.Asn403Ser)	rs777305549
NM_000153.4(GALC):c.1213T>A (p.Ser405Thr)
NM_000153.4(GALC):c.1221A>T (p.Gln407His)
NM_000153.4(GALC):c.1225G>T (p.Ala409Ser)
NM_000153.4(GALC):c.1247C>G (p.Ser416Cys)
NM_000153.4(GALC):c.1251+5G>A	rs755870379
NM_000153.4(GALC):c.1251+5_1251+8del
NM_000153.4(GALC):c.1252-3C>T
NM_000153.4(GALC):c.1298C>T (p.Thr433Ile)
NM_000153.4(GALC):c.1303G>A (p.Glu435Lys)
NM_000153.4(GALC):c.1338G>C (p.Trp446Cys)	rs2139961409
NM_000153.4(GALC):c.1340_1341delinsAT (p.Leu447His)
NM_000153.4(GALC):c.1348A>G (p.Ser450Gly)	rs1019851510
NM_000153.4(GALC):c.1358G>T (p.Ser453Ile)	rs2139956768
NM_000153.4(GALC):c.1364C>T (p.Thr455Ile)
NM_000153.4(GALC):c.1366C>G (p.Leu456Val)
NM_000153.4(GALC):c.1367T>C (p.Leu456Pro)
NM_000153.4(GALC):c.1370G>A (p.Ser457Asn)	rs1195834672
NM_000153.4(GALC):c.1370G>T (p.Ser457Ile)	rs1195834672
NM_000153.4(GALC):c.1376A>G (p.His459Arg)	rs755193670
NM_000153.4(GALC):c.1385A>C (p.Glu462Ala)
NM_000153.4(GALC):c.1392C>A (p.Phe464Leu)	rs1313792705
NM_000153.4(GALC):c.1396C>A (p.Leu466Ile)
NM_000153.4(GALC):c.1405C>G (p.Leu469Val)
NM_000153.4(GALC):c.1405C>T (p.Leu469Phe)
NM_000153.4(GALC):c.1417C>T (p.Arg473Cys)
NM_000153.4(GALC):c.1460C>T (p.Pro487Leu)
NM_000153.4(GALC):c.1489+6T>G
NM_000153.4(GALC):c.1496C>T (p.Pro499Leu)	rs2139951685
NM_000153.4(GALC):c.14T>C (p.Leu5Pro)
NM_000153.4(GALC):c.1523C>T (p.Ala508Val)	rs2139951602
NM_000153.4(GALC):c.1561G>A (p.Glu521Lys)
NM_000153.4(GALC):c.1577A>G (p.His526Arg)	rs2139951434
NM_000153.4(GALC):c.1622G>T (p.Trp541Leu)	rs2139951226
NM_000153.4(GALC):c.1634C>A (p.Ala545Glu)	rs1289015582
NM_000153.4(GALC):c.1667A>G (p.Asn556Ser)
NM_000153.4(GALC):c.1670+6A>G
NM_000153.4(GALC):c.1718C>T (p.Thr573Ile)	rs2139941538
NM_000153.4(GALC):c.1744G>A (p.Val582Ile)
NM_000153.4(GALC):c.1759A>G (p.Ile587Val)
NM_000153.4(GALC):c.1772G>A (p.Ser591Asn)
NM_000153.4(GALC):c.1774G>A (p.Ala592Thr)
NM_000153.4(GALC):c.1778G>C (p.Arg593Thr)	rs1566969057
NM_000153.4(GALC):c.1789_1800del (p.Phe597_Phe600del)	rs2139941321
NM_000153.4(GALC):c.1816A>T (p.Arg606Trp)
NM_000153.4(GALC):c.1892C>T (p.Thr631Ile)
NM_000153.4(GALC):c.1904C>A (p.Thr635Asn)
NM_000153.4(GALC):c.1911+4A>G
NM_000153.4(GALC):c.1946C>G (p.Ser649Cys)	rs1158521193
NM_000153.4(GALC):c.196-14A>G
NM_000153.4(GALC):c.1978A>G (p.Lys660Glu)
NM_000153.4(GALC):c.1980G>C (p.Lys660Asn)
NM_000153.4(GALC):c.2003C>G (p.Thr668Ser)
NM_000153.4(GALC):c.2006A>G (p.His669Arg)
NM_000153.4(GALC):c.2025G>T (p.Gln675His)
NM_000153.4(GALC):c.2033A>G (p.Asn678Ser)
NM_000153.4(GALC):c.2050A>G (p.Thr684Ala)
NM_000153.4(GALC):c.2058A>C (p.Ter686Tyr)
NM_000153.4(GALC):c.205C>G (p.Arg69Gly)
NM_000153.4(GALC):c.250G>A (p.Asp84Asn)	rs2139759348
NM_000153.4(GALC):c.254A>C (p.Tyr85Ser)
NM_000153.4(GALC):c.25T>G (p.Ser9Ala)
NM_000153.4(GALC):c.264+5T>A	rs2139759293
NM_000153.4(GALC):c.265-3C>G
NM_000153.4(GALC):c.270T>A (p.Asn90Lys)
NM_000153.4(GALC):c.280T>C (p.Ser94Pro)
NM_000153.4(GALC):c.32A>G (p.Gln11Arg)	rs2139769922
NM_000153.4(GALC):c.356A>C (p.Tyr119Ser)	rs2139754980
NM_000153.4(GALC):c.369G>T (p.Glu123Asp)
NM_000153.4(GALC):c.370A>G (p.Asn124Asp)
NM_000153.4(GALC):c.37C>G (p.Arg13Gly)	rs1173602413
NM_000153.4(GALC):c.383G>C (p.Gly128Ala)	rs367604629
NM_000153.4(GALC):c.398TGA[1] (p.Met134del)	rs1886979623
NM_000153.4(GALC):c.442+4A>G	rs753169234
NM_000153.4(GALC):c.44A>G (p.Lys15Arg)
NM_000153.4(GALC):c.484G>A (p.Asp162Asn)
NM_000153.4(GALC):c.509T>C (p.Leu170Pro)
NM_000153.4(GALC):c.50T>A (p.Met17Lys)
NM_000153.4(GALC):c.514G>A (p.Ala172Thr)
NM_000153.4(GALC):c.518A>G (p.Tyr173Cys)	rs1388075066
NM_000153.4(GALC):c.541G>A (p.Gly181Ser)
NM_000153.4(GALC):c.578T>C (p.Ile193Thr)	rs1555383498
NM_000153.4(GALC):c.581G>C (p.Gly194Ala)	rs963756824
NM_000153.4(GALC):c.583-6T>G
NM_000153.4(GALC):c.598T>C (p.Ser200Pro)
NM_000153.4(GALC):c.61_63delinsCCA (p.Ala21Pro)
NM_000153.4(GALC):c.621G>A (p.Lys207=)	rs1428763453
NM_000153.4(GALC):c.635T>C (p.Met212Thr)
NM_000153.4(GALC):c.63G>A (p.Ala21=)
NM_000153.4(GALC):c.65G>C (p.Gly22Ala)	rs372285275
NM_000153.4(GALC):c.679G>C (p.Asp227His)
NM_000153.4(GALC):c.682A>G (p.Asn228Asp)	rs2140016299
NM_000153.4(GALC):c.68C>T (p.Ser23Leu)
NM_000153.4(GALC):c.691G>A (p.Glu231Lys)	rs542231350
NM_000153.4(GALC):c.693G>C (p.Glu231Asp)
NM_000153.4(GALC):c.693G>T (p.Glu231Asp)
NM_000153.4(GALC):c.695C>G (p.Ser232Cys)
NM_000153.4(GALC):c.709A>G (p.Met237Val)
NM_000153.4(GALC):c.719A>G (p.Asp240Gly)
NM_000153.4(GALC):c.71C>G (p.Ala24Gly)
NM_000153.4(GALC):c.724G>A (p.Glu242Lys)
NM_000153.4(GALC):c.750A>G (p.Ile250Met)	rs2140016054
NM_000153.4(GALC):c.758A>G (p.His253Arg)
NM_000153.4(GALC):c.773A>C (p.His258Pro)
NM_000153.4(GALC):c.77G>A (p.Arg26His)
NM_000153.4(GALC):c.79G>T (p.Ala27Ser)
NM_000153.4(GALC):c.83C>T (p.Ala28Val)
NM_000153.4(GALC):c.848T>C (p.Met283Thr)
NM_000153.4(GALC):c.85G>A (p.Val29Met)
NM_000153.4(GALC):c.896_897delinsAG (p.Gly299Glu)	rs2140001432
NM_000153.4(GALC):c.8A>G (p.Glu3Gly)
NM_000153.4(GALC):c.8A>T (p.Glu3Val)	rs2139770080
NM_000153.4(GALC):c.905C>T (p.Thr302Ile)
NM_000153.4(GALC):c.92T>C (p.Leu31Ser)
NM_000153.4(GALC):c.938A>G (p.Tyr313Cys)
NM_000153.4(GALC):c.973A>G (p.Met325Val)	rs772190761
NM_000153.4(GALC):c.977C>T (p.Thr326Met)

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