ClinVar Miner

List of variants in gene GALC reported as likely benign for Galactosylceramide beta-galactosidase deficiency

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Gene type:
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Total variants: 50
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HGVS dbSNP
NM_000153.4(GALC):c.*801A>T rs114174103
NM_000153.4(GALC):c.1006G>A (p.Val336Met) rs185073540
NM_000153.4(GALC):c.114G>T (p.Ala38=) rs749514611
NM_000153.4(GALC):c.1162-5_1162-4del rs11300320
NM_000153.4(GALC):c.120C>A (p.Gly40=) rs532800656
NM_000153.4(GALC):c.120C>T (p.Gly40=) rs532800656
NM_000153.4(GALC):c.1252-10T>G rs1595198237
NM_000153.4(GALC):c.1252-8C>A rs1327279405
NM_000153.4(GALC):c.1272G>A (p.Gln424=) rs376675180
NM_000153.4(GALC):c.1332T>C (p.Ser444=) rs1595198074
NM_000153.4(GALC):c.1434G>A (p.Pro478=) rs200231860
NM_000153.4(GALC):c.144C>T (p.Ser48=) rs764548631
NM_000153.4(GALC):c.1489+3G>A rs186664912
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.15A>G (p.Leu5=) rs529350155
NM_000153.4(GALC):c.1629C>T (p.Ala543=) rs201055535
NM_000153.4(GALC):c.1731C>T (p.Phe577=) rs201560122
NM_000153.4(GALC):c.1752A>G (p.Lys584=) rs201016488
NM_000153.4(GALC):c.1862G>A (p.Arg621His) rs192911803
NM_000153.4(GALC):c.1899G>A (p.Thr633=) rs370259898
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.195+10A>G rs191767015
NM_000153.4(GALC):c.195+15G>A rs748140458
NM_000153.4(GALC):c.2034C>T (p.Asn678=) rs183869279
NM_000153.4(GALC):c.247T>C (p.Leu83=) rs753469861
NM_000153.4(GALC):c.27C>T (p.Ser9=) rs1397626290
NM_000153.4(GALC):c.329-10_329-8del rs770389075
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000153.4(GALC):c.379C>A (p.Arg127=) rs200532368
NM_000153.4(GALC):c.41C>G (p.Ala14Gly) rs373587692
NM_000153.4(GALC):c.450A>T (p.Pro150=) rs886050866
NM_000153.4(GALC):c.459C>T (p.Phe153=) rs774472326
NM_000153.4(GALC):c.462T>C (p.Pro154=) rs748295031
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.583-8T>C rs1037117075
NM_000153.4(GALC):c.60C>T (p.Ala20=) rs188488238
NM_000153.4(GALC):c.659G>A (p.Arg220Gln) rs199967869
NM_000153.4(GALC):c.69G>T (p.Ser23=) rs763851570
NM_000153.4(GALC):c.714C>T (p.Leu238=) rs748497197
NM_000153.4(GALC):c.753-5T>C rs745331282
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.909-4T>G rs201884281
NM_000153.4(GALC):c.978G>A (p.Thr326=) rs1214736198
NM_000153.4(GALC):c.997G>A (p.Gly333Arg) rs190921137
NM_001201401.1(GALC):c.-67T>G rs571945132

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