ClinVar Miner

List of variants in gene GALC reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 158
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HGVS dbSNP
GRCh37/hg19 14q31.3(chr14:88399247-88419358)x1
GRCh37/hg19 14q31.3(chr14:88399622-88422569)x1
GRCh37/hg19 14q31.3(chr14:88400251-88422569)x1
NC_000014.8:g.88391483C>T rs1555377065
NC_000014.9:g.(?_87963364)_(87993519_?)dup
NM_000153.4(GALC):c.*12G>A rs372641636
NM_000153.4(GALC):c.*1451C>A rs138919458
NM_000153.4(GALC):c.*1458T>C rs757918900
NM_000153.4(GALC):c.*14A>G rs143444570
NM_000153.4(GALC):c.*1584G>A
NM_000153.4(GALC):c.*1598G>A
NM_000153.4(GALC):c.*1625A>G
NM_000153.4(GALC):c.*363A>G
NM_000153.4(GALC):c.*366A>G
NM_000153.4(GALC):c.*375A>G
NM_000153.4(GALC):c.*389G>T
NM_000153.4(GALC):c.*405A>G
NM_000153.4(GALC):c.*455A>G
NM_000153.4(GALC):c.*486C>G
NM_000153.4(GALC):c.*499T>C
NM_000153.4(GALC):c.*591G>A rs886050863
NM_000153.4(GALC):c.*877T>A
NM_000153.4(GALC):c.*994C>A
NM_000153.4(GALC):c.*999T>C
NM_000153.4(GALC):c.-17G>A rs886050868
NM_000153.4(GALC):c.1042A>G (p.Thr348Ala)
NM_000153.4(GALC):c.1114G>T (p.Ala372Ser)
NM_000153.4(GALC):c.1158_1161+6del rs759068540
NM_000153.4(GALC):c.1162-14dup rs11300320
NM_000153.4(GALC):c.1162-4T>A rs774455523
NM_000153.4(GALC):c.1162-5_1162-4delinsC rs1555379806
NM_000153.4(GALC):c.1162-6_1162-5delinsA rs1555379811
NM_000153.4(GALC):c.1174T>C (p.Ser392Pro) rs1200769534
NM_000153.4(GALC):c.1184T>C (p.Ile395Thr)
NM_000153.4(GALC):c.1187G>A (p.Arg396Gln) rs887930208
NM_000153.4(GALC):c.119G>A (p.Gly40Asp) rs572947747
NM_000153.4(GALC):c.120C>T (p.Gly40=) rs532800656
NM_000153.4(GALC):c.1268T>C (p.Leu423Pro) rs1566976644
NM_000153.4(GALC):c.1272G>A (p.Gln424=) rs376675180
NM_000153.4(GALC):c.1355G>A (p.Gly452Asp) rs1057520151
NM_000153.4(GALC):c.136G>C (p.Asp46His)
NM_000153.4(GALC):c.1376A>G (p.His459Arg) rs755193670
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328
NM_000153.4(GALC):c.1418G>A (p.Arg473His) rs374868151
NM_000153.4(GALC):c.1441C>T (p.Pro481Ser)
NM_000153.4(GALC):c.1443A>G (p.Pro481=)
NM_000153.4(GALC):c.1453C>T (p.Pro485Ser) rs771051919
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn) rs202135871
NM_000153.4(GALC):c.1519T>C (p.Phe507Leu) rs1555379155
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys) rs794727116
NM_000153.4(GALC):c.1567C>A (p.Pro523Thr) rs370952794
NM_000153.4(GALC):c.1572C>T (p.Gly524=)
NM_000153.4(GALC):c.1573G>A (p.Glu525Lys) rs146286491
NM_000153.4(GALC):c.157C>T (p.Arg53Trp) rs752371343
NM_000153.4(GALC):c.1592G>C (p.Arg531Pro) rs200378205
NM_000153.4(GALC):c.1619C>T (p.Thr540Ile)
NM_000153.4(GALC):c.1642A>G (p.Thr548Ala) rs886050864
NM_000153.4(GALC):c.1671-1G>A rs1182103005
NM_000153.4(GALC):c.1717A>G (p.Thr573Ala) rs200219480
NM_000153.4(GALC):c.1774G>T (p.Ala592Ser) rs1360345372
NM_000153.4(GALC):c.179C>T (p.Ala60Val) rs759110815
NM_000153.4(GALC):c.187_188insAGC (p.Gly63delinsGluArg) rs1595245961
NM_000153.4(GALC):c.1887del (p.Trp629fs)
NM_000153.4(GALC):c.1895T>C (p.Leu632Pro) rs1418694289
NM_000153.4(GALC):c.1898C>T (p.Thr633Met)
NM_000153.4(GALC):c.18C>G (p.Leu6=) rs886038260
NM_000153.4(GALC):c.1912G>A (p.Gly638Ser) rs769851272
NM_000153.4(GALC):c.192C>T (p.Gly64=)
NM_000153.4(GALC):c.1942A>T (p.Lys648Ter)
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro) rs1249991480
NM_000153.4(GALC):c.195+15G>A rs748140458
NM_000153.4(GALC):c.1987T>G (p.Trp663Gly) rs1060499761
NM_000153.4(GALC):c.1997T>C (p.Ile666Thr) rs1461381844
NM_000153.4(GALC):c.2001A>C (p.Gly667=) rs769902280
NM_000153.4(GALC):c.2035T>C (p.Phe679Leu) rs779202612
NM_000153.4(GALC):c.2037_2040del (p.Phe679fs)
NM_000153.4(GALC):c.203C>T (p.Ser68Phe) rs1555383892
NM_000153.4(GALC):c.2041G>A (p.Val681Met) rs200607029
NM_000153.4(GALC):c.2053C>A (p.Arg685Ser) rs756141815
NM_000153.4(GALC):c.206G>A (p.Arg69Gln) rs371523347
NM_000153.4(GALC):c.226G>A (p.Glu76Lys) rs778447883
NM_000153.4(GALC):c.235C>T (p.Arg79Cys) rs73312829
NM_000153.4(GALC):c.23C>T (p.Ala8Val) rs376511103
NM_000153.4(GALC):c.251A>G (p.Asp84Gly) rs1555383882
NM_000153.4(GALC):c.266C>T (p.Pro89Leu) rs201422931
NM_000153.4(GALC):c.28T>C (p.Trp10Arg) rs767913083
NM_000153.4(GALC):c.308G>T (p.Gly103Val) rs1567014169
NM_000153.4(GALC):c.313G>A (p.Asp105Asn)
NM_000153.4(GALC):c.318G>A (p.Gly106=) rs886050867
NM_000153.4(GALC):c.328+3A>G rs377682096
NM_000153.4(GALC):c.328+6A>G rs201977747
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.349A>G (p.Met117Val) rs145580093
NM_000153.4(GALC):c.37C>G (p.Arg13Gly)
NM_000153.4(GALC):c.383G>C (p.Gly128Ala) rs367604629
NM_000153.4(GALC):c.398_400TGA[1] (p.Met134del)
NM_000153.4(GALC):c.3G>T (p.Met1Ile)
NM_000153.4(GALC):c.40G>A (p.Ala14Thr)
NM_000153.4(GALC):c.411_413del (p.Lys139del) rs1555383687
NM_000153.4(GALC):c.41C>G (p.Ala14Gly) rs373587692
NM_000153.4(GALC):c.428A>G (p.Asn143Ser) rs753623482
NM_000153.4(GALC):c.434C>T (p.Thr145Ile)
NM_000153.4(GALC):c.442+4A>G
NM_000153.4(GALC):c.443-12T>G rs886038261
NM_000153.4(GALC):c.450A>T (p.Pro150=) rs886050866
NM_000153.4(GALC):c.486C>A (p.Asp162Glu) rs767286511
NM_000153.4(GALC):c.49A>G (p.Met17Val) rs376662045
NM_000153.4(GALC):c.500A>G (p.Asn167Ser) rs768993170
NM_000153.4(GALC):c.525C>T (p.Val175=) rs181066089
NM_000153.4(GALC):c.53C>T (p.Thr18Ile) rs755139799
NM_000153.4(GALC):c.555_575del (p.His186_Tyr192del) rs1555383500
NM_000153.4(GALC):c.581G>C (p.Gly194Ala)
NM_000153.4(GALC):c.582+5G>A rs757016859
NM_000153.4(GALC):c.583-11T>C rs886050865
NM_000153.4(GALC):c.583-6T>A rs398123176
NM_000153.4(GALC):c.583A>G (p.Ile195Val) rs1555383309
NM_000153.4(GALC):c.592G>A (p.Glu198Lys) rs909979938
NM_000153.4(GALC):c.621G>A (p.Lys207=) rs1428763453
NM_000153.4(GALC):c.64G>C (p.Gly22Arg)
NM_000153.4(GALC):c.659G>A (p.Arg220Gln) rs199967869
NM_000153.4(GALC):c.674C>A (p.Ala225Glu)
NM_000153.4(GALC):c.691G>A (p.Glu231Lys) rs542231350
NM_000153.4(GALC):c.708C>T (p.Ser236=)
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748
NM_000153.4(GALC):c.752+3A>G rs1567000413
NM_000153.4(GALC):c.752+8A>C
NM_000153.4(GALC):c.787G>A (p.Ala263Thr) rs1308816724
NM_000153.4(GALC):c.788C>G (p.Ala263Gly) rs1292976689
NM_000153.4(GALC):c.81C>T (p.Ala27=) rs759433028
NM_000153.4(GALC):c.82G>A (p.Ala28Thr)
NM_000153.4(GALC):c.830G>A (p.Ser277Asn)
NM_000153.4(GALC):c.832A>G (p.Thr278Ala) rs886042645
NM_000153.4(GALC):c.909-10A>G rs398123178
NM_000153.4(GALC):c.916G>A (p.Ala306Thr) rs1349064845
NM_000153.4(GALC):c.927A>C (p.Leu309Phe) rs758904079
NM_000153.4(GALC):c.94C>A (p.Leu32Met) rs770807058
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855
NM_000153.4(GALC):c.973A>G (p.Met325Val) rs772190761
NM_001201401.1(GALC):c.-21C>T rs768255795
NM_001201401.1(GALC):c.-29del rs886050869
NM_001201401.1(GALC):c.-67T>G rs571945132
NM_001201401.1(GALC):c.-68C>T rs369469562
NM_001201401.1(GALC):c.-73G>A
NM_001201401.1(GALC):c.-80_-75del rs564526560
NM_001201401.1(GALC):c.-85T>A rs886050870
NM_001201402.1(GALC):c.102delinsTTCC (p.Glu35_Glu36insSer) rs1555384440
NM_001201402.1(GALC):c.113C>T (p.Pro38Leu) rs181004720
NM_001201402.1(GALC):c.117+1G>C rs1555384433
NM_001201402.1(GALC):c.117dup (p.Ala40fs) rs1555384436
NM_001201402.1(GALC):c.18T>C (p.His6=) rs556647825
NM_001201402.1(GALC):c.20del (p.Gly7fs) rs1555384465
NM_001201402.1(GALC):c.40dup (p.Leu14fs) rs1555384458
NM_001201402.1(GALC):c.52dup (p.Asp18fs) rs1482465546
NM_001201402.1(GALC):c.75C>A (p.Cys25Ter) rs1307710694
NM_001201402.1(GALC):c.81dup (p.Val28fs) rs1555384444
NM_001201402.1(GALC):c.9G>T (p.Gly3=) rs185943390
Single allele rs1555377066

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