ClinVar Miner

List of variants in gene GALC reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 184
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HGVS dbSNP
NM_000153.4(GALC):c.-67T>G rs571945132
NM_000153.4(GALC):c.1005C>T (p.Tyr335=)
NM_000153.4(GALC):c.1029A>G (p.Val343=)
NM_000153.4(GALC):c.1034-4A>G
NM_000153.4(GALC):c.1047G>A (p.Gln349=) rs1475461759
NM_000153.4(GALC):c.1059T>C (p.Pro353=)
NM_000153.4(GALC):c.1068T>C (p.Tyr356=)
NM_000153.4(GALC):c.1086C>G (p.Gly362=)
NM_000153.4(GALC):c.108G>T (p.Leu36=)
NM_000153.4(GALC):c.1110C>T (p.Tyr370=) rs372793797
NM_000153.4(GALC):c.1131A>G (p.Leu377=)
NM_000153.4(GALC):c.114G>T (p.Ala38=) rs749514611
NM_000153.4(GALC):c.1162-10T>G
NM_000153.4(GALC):c.1162-5T>C
NM_000153.4(GALC):c.1162-5_1162-4del rs11300320
NM_000153.4(GALC):c.1170A>G (p.Lys390=)
NM_000153.4(GALC):c.117C>G (p.Pro39=)
NM_000153.4(GALC):c.117C>T (p.Pro39=)
NM_000153.4(GALC):c.1188G>T (p.Arg396=)
NM_000153.4(GALC):c.1191A>G (p.Pro397=) rs376181222
NM_000153.4(GALC):c.120C>T (p.Gly40=) rs532800656
NM_000153.4(GALC):c.1227C>T (p.Ala409=)
NM_000153.4(GALC):c.1251+7A>C
NM_000153.4(GALC):c.1252-10T>G rs1595198237
NM_000153.4(GALC):c.1252-4A>G
NM_000153.4(GALC):c.1252-5T>C
NM_000153.4(GALC):c.1252-7T>C
NM_000153.4(GALC):c.1252-8C>A rs1327279405
NM_000153.4(GALC):c.1272G>A (p.Gln424=) rs376675180
NM_000153.4(GALC):c.1305A>G (p.Glu435=)
NM_000153.4(GALC):c.1332T>C (p.Ser444=) rs1595198074
NM_000153.4(GALC):c.1335A>G (p.Leu445=)
NM_000153.4(GALC):c.1339-10T>C
NM_000153.4(GALC):c.1398C>T (p.Leu466=)
NM_000153.4(GALC):c.1419C>T (p.Arg473=)
NM_000153.4(GALC):c.141C>T (p.Asp47=)
NM_000153.4(GALC):c.1434G>A (p.Pro478=) rs200231860
NM_000153.4(GALC):c.1443A>G (p.Pro481=)
NM_000153.4(GALC):c.144C>T (p.Ser48=) rs764548631
NM_000153.4(GALC):c.1467C>T (p.Thr489=)
NM_000153.4(GALC):c.1489+3G>A rs186664912
NM_000153.4(GALC):c.1489+9T>C
NM_000153.4(GALC):c.1490-6G>A
NM_000153.4(GALC):c.1506T>C (p.Ser502=)
NM_000153.4(GALC):c.151C>T (p.Leu51=)
NM_000153.4(GALC):c.1551T>C (p.Phe517=)
NM_000153.4(GALC):c.1573G>A (p.Glu525Lys) rs146286491
NM_000153.4(GALC):c.1575G>A (p.Glu525=) rs755353417
NM_000153.4(GALC):c.1587G>A (p.Thr529=) rs184748969
NM_000153.4(GALC):c.1590A>T (p.Leu530=)
NM_000153.4(GALC):c.1599T>C (p.Val533=)
NM_000153.4(GALC):c.15A>G (p.Leu5=) rs529350155
NM_000153.4(GALC):c.1629C>T (p.Ala543=) rs201055535
NM_000153.4(GALC):c.1670+10A>G
NM_000153.4(GALC):c.1671-4G>T
NM_000153.4(GALC):c.1674C>G (p.Thr558=)
NM_000153.4(GALC):c.1677T>C (p.Asn559=)
NM_000153.4(GALC):c.168C>T (p.Asp56=)
NM_000153.4(GALC):c.1695T>C (p.Asp565=)
NM_000153.4(GALC):c.1698A>G (p.Val566=)
NM_000153.4(GALC):c.1710C>T (p.Thr570=)
NM_000153.4(GALC):c.1746A>G (p.Val582=)
NM_000153.4(GALC):c.174C>T (p.Ile58=)
NM_000153.4(GALC):c.1752A>G (p.Lys584=) rs201016488
NM_000153.4(GALC):c.1758T>C (p.Gly586=)
NM_000153.4(GALC):c.1791C>T (p.Phe597=)
NM_000153.4(GALC):c.1803A>G (p.Ala601=)
NM_000153.4(GALC):c.1806T>C (p.Asn602=)
NM_000153.4(GALC):c.180G>T (p.Ala60=)
NM_000153.4(GALC):c.1815C>T (p.Tyr605=)
NM_000153.4(GALC):c.1824A>G (p.Thr608=)
NM_000153.4(GALC):c.1845T>A (p.Ile615=)
NM_000153.4(GALC):c.1862G>A (p.Arg621His) rs192911803
NM_000153.4(GALC):c.1884A>G (p.Lys628=)
NM_000153.4(GALC):c.1890T>C (p.Tyr630=)
NM_000153.4(GALC):c.1893A>G (p.Thr631=)
NM_000153.4(GALC):c.1899G>A (p.Thr633=) rs370259898
NM_000153.4(GALC):c.1899G>T (p.Thr633=)
NM_000153.4(GALC):c.189C>T (p.Gly63=) rs1595245955
NM_000153.4(GALC):c.18C>G (p.Leu6=) rs886038260
NM_000153.4(GALC):c.1911+10G>A
NM_000153.4(GALC):c.1911+7A>G
NM_000153.4(GALC):c.1911+9T>G
NM_000153.4(GALC):c.1912-10_1912-7dup
NM_000153.4(GALC):c.1912-7A>G
NM_000153.4(GALC):c.1920_1921inv (p.Thr641Ala)
NM_000153.4(GALC):c.1947T>C (p.Ser649=)
NM_000153.4(GALC):c.195+12G>A
NM_000153.4(GALC):c.195+16C>T
NM_000153.4(GALC):c.195+7G>A
NM_000153.4(GALC):c.195+8G>A
NM_000153.4(GALC):c.196-7T>A
NM_000153.4(GALC):c.196-7T>C
NM_000153.4(GALC):c.196-9T>C
NM_000153.4(GALC):c.1992T>C (p.Ala664=) rs763585644
NM_000153.4(GALC):c.2001A>C (p.Gly667=) rs769902280
NM_000153.4(GALC):c.201C>G (p.Thr67=)
NM_000153.4(GALC):c.2022A>G (p.Ala674=)
NM_000153.4(GALC):c.2034C>T (p.Asn678=) rs183869279
NM_000153.4(GALC):c.2040T>C (p.Leu680=)
NM_000153.4(GALC):c.204C>T (p.Ser68=)
NM_000153.4(GALC):c.2055C>T (p.Arg685=)
NM_000153.4(GALC):c.216A>G (p.Val72=)
NM_000153.4(GALC):c.222C>T (p.Tyr74=)
NM_000153.4(GALC):c.247T>C (p.Leu83=) rs753469861
NM_000153.4(GALC):c.258C>A (p.Leu86=)
NM_000153.4(GALC):c.264+10A>G
NM_000153.4(GALC):c.27C>T (p.Ser9=) rs1397626290
NM_000153.4(GALC):c.318G>A (p.Gly106=) rs886050867
NM_000153.4(GALC):c.321G>A (p.Gln107=)
NM_000153.4(GALC):c.329-10_329-8del rs770389075
NM_000153.4(GALC):c.329-4T>G
NM_000153.4(GALC):c.329-6A>G
NM_000153.4(GALC):c.329-8C>G
NM_000153.4(GALC):c.348C>T (p.His116=)
NM_000153.4(GALC):c.357T>C (p.Tyr119=) rs1567012468
NM_000153.4(GALC):c.360A>G (p.Ala120=)
NM_000153.4(GALC):c.379C>A (p.Arg127=) rs200532368
NM_000153.4(GALC):c.387C>T (p.Tyr129=) rs1240965365
NM_000153.4(GALC):c.414G>A (p.Lys138=)
NM_000153.4(GALC):c.41C>G (p.Ala14Gly) rs373587692
NM_000153.4(GALC):c.426C>T (p.Pro142=)
NM_000153.4(GALC):c.435A>G (p.Thr145=)
NM_000153.4(GALC):c.450A>G (p.Pro150=)
NM_000153.4(GALC):c.459C>T (p.Phe153=) rs774472326
NM_000153.4(GALC):c.45A>G (p.Lys15=)
NM_000153.4(GALC):c.462T>C (p.Pro154=) rs748295031
NM_000153.4(GALC):c.465A>G (p.Gly155=)
NM_000153.4(GALC):c.483C>T (p.Phe161=)
NM_000153.4(GALC):c.48T>C (p.Ala16=)
NM_000153.4(GALC):c.516C>A (p.Ala172=)
NM_000153.4(GALC):c.516C>T (p.Ala172=)
NM_000153.4(GALC):c.528G>A (p.Val176=)
NM_000153.4(GALC):c.530C>A (p.Thr177Asn) rs115869593
NM_000153.4(GALC):c.537T>C (p.Ile179=) rs776341276
NM_000153.4(GALC):c.543C>T (p.Gly181=) rs772338291
NM_000153.4(GALC):c.57G>C (p.Ala19=)
NM_000153.4(GALC):c.57G>T (p.Ala19=)
NM_000153.4(GALC):c.582+10A>G
NM_000153.4(GALC):c.582+7A>G
NM_000153.4(GALC):c.583-4G>T
NM_000153.4(GALC):c.583-8T>C rs1037117075
NM_000153.4(GALC):c.600A>G (p.Ser200=)
NM_000153.4(GALC):c.609C>G (p.Ala203=)
NM_000153.4(GALC):c.60C>T (p.Ala20=) rs188488238
NM_000153.4(GALC):c.621+8C>G
NM_000153.4(GALC):c.622-10A>C
NM_000153.4(GALC):c.639G>C (p.Leu213=)
NM_000153.4(GALC):c.645T>C (p.Tyr215=)
NM_000153.4(GALC):c.659G>A (p.Arg220Gln) rs199967869
NM_000153.4(GALC):c.65G>A (p.Gly22Asp)
NM_000153.4(GALC):c.675A>G (p.Ala225=)
NM_000153.4(GALC):c.678T>C (p.Ser226=) rs1595226323
NM_000153.4(GALC):c.69G>C (p.Ser23=)
NM_000153.4(GALC):c.69G>T (p.Ser23=) rs763851570
NM_000153.4(GALC):c.705A>G (p.Ala235=)
NM_000153.4(GALC):c.708C>T (p.Ser236=)
NM_000153.4(GALC):c.714C>T (p.Leu238=) rs748497197
NM_000153.4(GALC):c.723C>T (p.Ala241=)
NM_000153.4(GALC):c.72G>C (p.Ala24=)
NM_000153.4(GALC):c.752+10G>A
NM_000153.4(GALC):c.753-5T>C rs745331282
NM_000153.4(GALC):c.753-5del rs533067313
NM_000153.4(GALC):c.753-7T>G
NM_000153.4(GALC):c.75C>T (p.Gly25=)
NM_000153.4(GALC):c.798T>C (p.Thr266=)
NM_000153.4(GALC):c.804G>A (p.Lys268=) rs754144462
NM_000153.4(GALC):c.81C>T (p.Ala27=) rs759433028
NM_000153.4(GALC):c.828T>C (p.Phe276=)
NM_000153.4(GALC):c.909-10A>T
NM_000153.4(GALC):c.909-4T>G rs201884281
NM_000153.4(GALC):c.909-9A>C
NM_000153.4(GALC):c.90C>G (p.Pro30=)
NM_000153.4(GALC):c.915C>T (p.Ile305=)
NM_000153.4(GALC):c.918A>T (p.Ala306=)
NM_000153.4(GALC):c.933T>C (p.Ala311=)
NM_000153.4(GALC):c.945A>G (p.Glu315=)
NM_000153.4(GALC):c.94C>T (p.Leu32=)
NM_000153.4(GALC):c.957T>C (p.Tyr319=)
NM_000153.4(GALC):c.970T>C (p.Leu324=)
NM_000153.4(GALC):c.978G>A (p.Thr326=) rs1214736198
NM_000153.4(GALC):c.990A>G (p.Pro330=)
NM_000153.4(GALC):c.997G>A (p.Gly333Arg) rs190921137
NM_000153.4(GALC):c.99G>C (p.Leu33=) rs1595246257

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