ClinVar Miner

List of variants in gene GALC studied for not provided

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Gene type:
ClinVar version:
Total variants: 152
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HGVS dbSNP
GRCh37/hg19 14q31.3(chr14:88382306-88419358)x1
GRCh37/hg19 14q31.3(chr14:88398357-88422853)x1
GRCh37/hg19 14q31.3(chr14:88398406-88422853)x1
GRCh37/hg19 14q31.3(chr14:88398407-88422569)x1
GRCh37/hg19 14q31.3(chr14:88399247-88419358)x1
GRCh37/hg19 14q31.3(chr14:88399247-88420282)x1
GRCh37/hg19 14q31.3(chr14:88399488-88422442)x1
GRCh37/hg19 14q31.3(chr14:88399622-88422569)x1
GRCh37/hg19 14q31.3(chr14:88400251-88422569)x1
GRCh37/hg19 14q31.3(chr14:88400285-88422569)x1
NM_000153.3(GALC):c.1834+22dup rs34752717
NM_000153.3(GALC):c.243_244dup (p.Ile82Argfs) rs886043419
NM_000153.4(GALC):c.-318T>C rs556647825
NM_000153.4(GALC):c.1031C>G (p.Ser344Ter) rs1555381559
NM_000153.4(GALC):c.1033+145A>G rs17760463
NM_000153.4(GALC):c.1034-125G>C rs17760374
NM_000153.4(GALC):c.1034-270A>G rs78508589
NM_000153.4(GALC):c.1034-314A>G rs17687144
NM_000153.4(GALC):c.1047G>A (p.Gln349=) rs1475461759
NM_000153.4(GALC):c.1072C>T (p.Leu358=) rs74073730
NM_000153.4(GALC):c.1075_1084del (p.Lys359fs) rs1555381439
NM_000153.4(GALC):c.1083dup (p.Gly362fs)
NM_000153.4(GALC):c.1107C>G (p.Ser369Arg)
NM_000153.4(GALC):c.1110C>T (p.Tyr370=) rs372793797
NM_000153.4(GALC):c.1158_1161+6del rs759068540
NM_000153.4(GALC):c.1161+248del rs143103231
NM_000153.4(GALC):c.1161+2T>G rs398123175
NM_000153.4(GALC):c.1161+301C>T rs3906822
NM_000153.4(GALC):c.1162-152G>A rs443019
NM_000153.4(GALC):c.1162-197T>C rs428542
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000153.4(GALC):c.1191A>G (p.Pro397=) rs376181222
NM_000153.4(GALC):c.1252-115T>C rs440426
NM_000153.4(GALC):c.1252-166G>A rs451073
NM_000153.4(GALC):c.1302C>T (p.Ser434=) rs3213918
NM_000153.4(GALC):c.1338+159C>T rs3213917
NM_000153.4(GALC):c.1338+23T>C rs74076317
NM_000153.4(GALC):c.1350C>T (p.Ser450=) rs398076
NM_000153.4(GALC):c.1355G>A (p.Gly452Asp) rs1057520151
NM_000153.4(GALC):c.1399dup (p.Thr467fs) rs1057518390
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn) rs202135871
NM_000153.4(GALC):c.1488_1489+2del rs1555379355
NM_000153.4(GALC):c.1490-233C>T rs3910682
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser) rs375867319
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys) rs794727116
NM_000153.4(GALC):c.155del (p.Gly52fs) rs1064793131
NM_000153.4(GALC):c.1567C>A (p.Pro523Thr) rs370952794
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659
NM_000153.4(GALC):c.1591C>T (p.Arg531Cys) rs749893889
NM_000153.4(GALC):c.1592G>A (p.Arg531His) rs200378205
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn) rs387906952
NM_000153.4(GALC):c.1632T>C (p.Asp544=) rs9672064
NM_000153.4(GALC):c.1665C>G (p.Tyr555Ter) rs1566972341
NM_000153.4(GALC):c.1670+204T>C rs430536
NM_000153.4(GALC):c.1670+94A>G rs444902
NM_000153.4(GALC):c.1671-15C>T rs12432149
NM_000153.4(GALC):c.1671-319A>G rs367125
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607
NM_000153.4(GALC):c.1698A>T (p.Val566=) rs421466
NM_000153.4(GALC):c.169G>A (p.Gly57Ser) rs11623
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626
NM_000153.4(GALC):c.1717A>G (p.Thr573Ala) rs200219480
NM_000153.4(GALC):c.173del (p.Ile58fs) rs1064795927
NM_000153.4(GALC):c.1753G>T (p.Gly585Cys)
NM_000153.4(GALC):c.1834+5C>G rs448805
NM_000153.4(GALC):c.1862G>A (p.Arg621His) rs192911803
NM_000153.4(GALC):c.1890T>A (p.Tyr630Ter) rs1057516453
NM_000153.4(GALC):c.1897dup (p.Thr633fs) rs1555378538
NM_000153.4(GALC):c.1911+122C>G rs45567441
NM_000153.4(GALC):c.1911+129G>A rs45626938
NM_000153.4(GALC):c.1912-170C>T rs433764
NM_000153.4(GALC):c.1912-220T>G rs390474
NM_000153.4(GALC):c.1912G>A (p.Gly638Ser) rs769851272
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala) rs421262
NM_000153.4(GALC):c.1934T>G (p.Leu645Arg)
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro) rs1249991480
NM_000153.4(GALC):c.195+164G>A rs78727833
NM_000153.4(GALC):c.195+1G>A rs1009872980
NM_000153.4(GALC):c.195G>C (p.Gly65=) rs886042057
NM_000153.4(GALC):c.196-201del rs112118889
NM_000153.4(GALC):c.196-3del rs561184126
NM_000153.4(GALC):c.1992T>C (p.Ala664=) rs763585644
NM_000153.4(GALC):c.1997T>C (p.Ile666Thr) rs1461381844
NM_000153.4(GALC):c.2041G>A (p.Val681Met) rs200607029
NM_000153.4(GALC):c.205C>T (p.Arg69Ter) rs771111145
NM_000153.4(GALC):c.226G>A (p.Glu76Lys) rs778447883
NM_000153.4(GALC):c.266C>T (p.Pro89Leu) rs201422931
NM_000153.4(GALC):c.287A>G (p.His96Arg)
NM_000153.4(GALC):c.293dup (p.Leu98fs)
NM_000153.4(GALC):c.308G>T (p.Gly103Val) rs1567014169
NM_000153.4(GALC):c.328+19T>A rs74337989
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.330C>T (p.Asp110=) rs11552556
NM_000153.4(GALC):c.331G>A (p.Gly111Ser) rs756690487
NM_000153.4(GALC):c.332G>A (p.Gly111Asp)
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.357T>C (p.Tyr119=) rs1567012468
NM_000153.4(GALC):c.379C>T (p.Arg127Ter) rs200532368
NM_000153.4(GALC):c.387C>T (p.Tyr129=) rs1240965365
NM_000153.4(GALC):c.391T>C (p.Trp131Arg)
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.42G>C (p.Ala14=) rs112992946
NM_000153.4(GALC):c.430del (p.Ile144fs) rs775277935
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.543C>T (p.Gly181=) rs772338291
NM_000153.4(GALC):c.583-288G>A rs74563284
NM_000153.4(GALC):c.583-6T>A rs398123176
NM_000153.4(GALC):c.592G>A (p.Glu198Lys) rs909979938
NM_000153.4(GALC):c.61G>C (p.Ala21Pro) rs111887056
NM_000153.4(GALC):c.621+24T>C rs45568734
NM_000153.4(GALC):c.622-137CAAA[4] rs146880216
NM_000153.4(GALC):c.622-162del rs112016425
NM_000153.4(GALC):c.622-175C>T rs111931900
NM_000153.4(GALC):c.622-273G>A rs148708614
NM_000153.4(GALC):c.622-284C>T rs112469201
NM_000153.4(GALC):c.628A>T (p.Arg210Ter) rs202131052
NM_000153.4(GALC):c.658C>T (p.Arg220Ter) rs766310671
NM_000153.4(GALC):c.673G>A (p.Ala225Thr)
NM_000153.4(GALC):c.678T>C (p.Ser226=) rs1595226323
NM_000153.4(GALC):c.69G>T (p.Ser23=) rs763851570
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748
NM_000153.4(GALC):c.749T>C (p.Ile250Thr) rs886039569
NM_000153.4(GALC):c.752+199A>T rs4904409
NM_000153.4(GALC):c.753-5del rs533067313
NM_000153.4(GALC):c.75C>A (p.Gly25=) rs111976362
NM_000153.4(GALC):c.764C>G (p.Pro255Arg)
NM_000153.4(GALC):c.788C>G (p.Ala263Gly) rs1292976689
NM_000153.4(GALC):c.789A>G (p.Ala263=)
NM_000153.4(GALC):c.832A>C (p.Thr278Pro) rs886042645
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983
NM_000153.4(GALC):c.862T>C (p.Trp288Arg) rs398123177
NM_000153.4(GALC):c.908+270T>A rs397644
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) rs756352952
NM_000153.4(GALC):c.909-10A>G rs398123178
NM_000153.4(GALC):c.943del (p.Glu315fs)
NM_000153.4(GALC):c.955del (p.Tyr319fs) rs786204454
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855
NM_000153.4(GALC):c.973A>G (p.Met325Val) rs772190761
NM_000153.4(GALC):c.982C>T (p.Gln328Ter)
NM_000153.4(GALC):c.984G>A (p.Gln328=) rs12888666
NM_000153.4(GALC):c.99G>C (p.Leu33=) rs1595246257
NM_001201402.1(GALC):c.9G>T (p.Gly3=) rs185943390
NM_001201402.2(GALC):c.113C>T (p.Pro38Leu) rs181004720
NM_001201402.2(GALC):c.117+71T>C rs76999174

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