ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 208
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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.349A>G (p.Met117Val) rs145580093 0.00057
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661 0.00018
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659 0.00009
NM_000153.4(GALC):c.265-2A>G rs199710405 0.00006
NM_000153.4(GALC):c.1592G>A (p.Arg531His) rs200378205 0.00004
NM_000153.4(GALC):c.2041G>A (p.Val681Met) rs200607029 0.00004
NM_000153.4(GALC):c.332G>A (p.Gly111Asp) rs746487628 0.00004
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp) rs770485731 0.00003
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626 0.00003
NM_000153.4(GALC):c.388G>A (p.Glu130Lys) rs374635469 0.00003
NM_000153.4(GALC):c.850G>A (p.Gly284Ser) rs377274761 0.00003
NM_000153.4(GALC):c.868C>T (p.Arg290Cys) rs780750448 0.00003
NM_000153.4(GALC):c.1671-1G>A rs1182103005 0.00002
NM_000153.4(GALC):c.1814dup (p.Tyr605Ter) rs766007316 0.00002
NM_000153.4(GALC):c.430del (p.Ile144fs) rs775277935 0.00002
NM_000153.4(GALC):c.628A>T (p.Arg210Ter) rs202131052 0.00002
NM_000153.4(GALC):c.674C>A (p.Ala225Glu) rs373077659 0.00002
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983 0.00002
NM_000153.4(GALC):c.1004A>G (p.Tyr335Cys) rs757407613 0.00001
NM_000153.4(GALC):c.1244G>A (p.Gly415Glu) rs1365128831 0.00001
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser) rs375867319 0.00001
NM_000153.4(GALC):c.1591C>T (p.Arg531Cys) rs749893889 0.00001
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn) rs387906952 0.00001
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg) rs748573754 0.00001
NM_000153.4(GALC):c.1723_1724insT (p.Gly575fs) rs1405488688 0.00001
NM_000153.4(GALC):c.1858G>A (p.Gly620Arg) rs779864190 0.00001
NM_000153.4(GALC):c.1898C>T (p.Thr633Met) rs766762599 0.00001
NM_000153.4(GALC):c.205C>T (p.Arg69Ter) rs771111145 0.00001
NM_000153.4(GALC):c.328+1G>T rs779701490 0.00001
NM_000153.4(GALC):c.331G>A (p.Gly111Ser) rs756690487 0.00001
NM_000153.4(GALC):c.379C>T (p.Arg127Ter) rs200532368 0.00001
NM_000153.4(GALC):c.461C>A (p.Pro154His) rs758557526 0.00001
NM_000153.4(GALC):c.489G>A (p.Trp163Ter) rs761550284 0.00001
NM_000153.4(GALC):c.673G>A (p.Ala225Thr) rs1436074042 0.00001
NM_000153.4(GALC):c.749T>C (p.Ile250Thr) rs886039569 0.00001
NM_000153.4(GALC):c.863G>A (p.Trp288Ter) rs372621124 0.00001
NM_000153.4(GALC):c.908+1G>A rs750524447 0.00001
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) rs756352952 0.00001
NM_000153.4(GALC):c.916G>A (p.Ala306Thr) rs1349064845 0.00001
NM_000153.4(GALC):c.982C>T (p.Gln328Ter) rs1337518083 0.00001
GRCh37/hg19 14q31.3(chr14:88391502-88423172)
GRCh37/hg19 14q31.3(chr14:88399828-88422607)
NC_000014.8:g.(?_88391503)_88423172del
NC_000014.8:g.(?_88391504)_88423173del
NC_000014.8:g.(?_88391504)_88423174del
NC_000014.8:g.(?_88399357)_(88417093_88429727)del
NC_000014.8:g.(?_88401064)_(88406335_?)del
NC_000014.8:g.(?_88411887)_(88417102_?)dup
NC_000014.8:g.(?_88417067)_(88429464_?)del
NC_000014.8:g.(?_88431839)_(88434844_?)del
NC_000014.8:g.(?_88434669)_(88434844_?)del
NC_000014.8:g.(?_88448539)_(88459971_?)del
NC_000014.9:g.(?_87934712)_(87950768_?)del
NC_000014.9:g.(?_87934720)_(87950758_?)del
NC_000014.9:g.(?_87963374)_(87963521_?)del
NC_000014.9:g.(?_87968315)_(87968510_?)del
NC_000014.9:g.(?_87992960)_(87993627_?)del
NC_000014.9:g.87925163_87956828del
NM_000153.4(GALC):c.1012del (p.Glu338fs) rs1057516469
NM_000153.4(GALC):c.1021del (p.Val341fs) rs1057517382
NM_000153.4(GALC):c.102_103delinsAT (p.Cys34_Ala35delinsTer) rs2139769498
NM_000153.4(GALC):c.1068T>G (p.Tyr356Ter)
NM_000153.4(GALC):c.1075_1084del (p.Lys359fs) rs1555381439
NM_000153.4(GALC):c.1083dup (p.Gly362fs) rs767236077
NM_000153.4(GALC):c.1102G>T (p.Gly368Ter)
NM_000153.4(GALC):c.1123_1129dup (p.Leu377Ter)
NM_000153.4(GALC):c.112dup (p.Ala38fs)
NM_000153.4(GALC):c.1151T>C (p.Ile384Thr)
NM_000153.4(GALC):c.1153G>T (p.Glu385Ter) rs121908010
NM_000153.4(GALC):c.1158_1161+6del rs759068540
NM_000153.4(GALC):c.1171_1175delinsA (p.His391fs) rs1885269233
NM_000153.4(GALC):c.1174del (p.Ser392fs)
NM_000153.4(GALC):c.117del (p.Gly40fs)
NM_000153.4(GALC):c.11G>A (p.Trp4Ter)
NM_000153.4(GALC):c.11_14dup (p.Leu6fs)
NM_000153.4(GALC):c.121G>A (p.Gly41Ser) rs387906955
NM_000153.4(GALC):c.1230del (p.Phe411fs)
NM_000153.4(GALC):c.1251+5G>C
NM_000153.4(GALC):c.1252-1G>C rs2139961690
NM_000153.4(GALC):c.1270C>T (p.Gln424Ter) rs2139961653
NM_000153.4(GALC):c.1273del (p.Val425fs) rs1057516394
NM_000153.4(GALC):c.1285_1324del (p.Lys429fs) rs2139961448
NM_000153.4(GALC):c.1291G>T (p.Gly431Ter) rs2139961576
NM_000153.4(GALC):c.1297_1298insT (p.Thr433fs)
NM_000153.4(GALC):c.1297dup (p.Thr433fs)
NM_000153.4(GALC):c.1318A>T (p.Lys440Ter)
NM_000153.4(GALC):c.1321C>T (p.Gln441Ter)
NM_000153.4(GALC):c.1335_1336del (p.Trp446fs) rs1885229622
NM_000153.4(GALC):c.1339-1G>T rs1885138493
NM_000153.4(GALC):c.1361dup (p.Thr455fs)
NM_000153.4(GALC):c.1367_1368del (p.Leu456fs) rs2139956734
NM_000153.4(GALC):c.1394C>T (p.Thr465Ile) rs1566974586
NM_000153.4(GALC):c.1411_1432del (p.Thr471fs) rs2139956480
NM_000153.4(GALC):c.1433del (p.Pro478fs) rs2139956468
NM_000153.4(GALC):c.1450C>T (p.Gln484Ter)
NM_000153.4(GALC):c.1450del (p.Gln484fs)
NM_000153.4(GALC):c.1451_1455del (p.Gln484fs)
NM_000153.4(GALC):c.1465dup (p.Thr489fs) rs2139956343
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn) rs202135871
NM_000153.4(GALC):c.1472del (p.Lys491fs) rs771489305
NM_000153.4(GALC):c.1489+1G>A rs2139956292
NM_000153.4(GALC):c.1489+1G>C
NM_000153.4(GALC):c.1507G>T (p.Glu503Ter)
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys) rs794727116
NM_000153.4(GALC):c.1571del (p.Gly524fs)
NM_000153.4(GALC):c.1648dup (p.Ser550fs) rs2139951107
NM_000153.4(GALC):c.1671-2A>G
NM_000153.4(GALC):c.1676del (p.Asn559fs)
NM_000153.4(GALC):c.1687_1688insTTTTATAA (p.Lys563delinsIleLeuTer)
NM_000153.4(GALC):c.1712dup (p.Pro571_Asp572insTer) rs1555378701
NM_000153.4(GALC):c.1736_1739del (p.Ala579fs) rs754668472
NM_000153.4(GALC):c.1753G>T (p.Gly585Cys)
NM_000153.4(GALC):c.1762_1763del (p.Leu588fs) rs751283440
NM_000153.4(GALC):c.1793G>A (p.Trp598Ter) rs1884845930
NM_000153.4(GALC):c.1796T>G (p.Ile599Ser) rs387906953
NM_000153.4(GALC):c.1815dup (p.Arg606fs) rs2139941246
NM_000153.4(GALC):c.1821dup (p.Thr608fs) rs2139941220
NM_000153.4(GALC):c.1851del (p.Ile616_Tyr617insTer) rs1057516433
NM_000153.4(GALC):c.1853del (p.Ala618fs) rs2139937977
NM_000153.4(GALC):c.1872_1888del (p.Thr625fs) rs1884764754
NM_000153.4(GALC):c.1878_1894del (p.Lys627fs)
NM_000153.4(GALC):c.1884del (p.Lys628fs) rs1336726861
NM_000153.4(GALC):c.1884dup (p.Trp629fs) rs1336726861
NM_000153.4(GALC):c.1887del (p.Trp629fs) rs1884765073
NM_000153.4(GALC):c.1890T>A (p.Tyr630Ter) rs1057516453
NM_000153.4(GALC):c.1896_1900del (p.Thr633fs) rs749708827
NM_000153.4(GALC):c.1897dup (p.Thr633fs) rs1555378538
NM_000153.4(GALC):c.1901del (p.Thr633_Leu634insTer) rs1555378534
NM_000153.4(GALC):c.1911+1_1911+5del rs777955784
NM_000153.4(GALC):c.1964del (p.Pro655fs) rs2139925832
NM_000153.4(GALC):c.1987del (p.Trp663fs) rs2139925729
NM_000153.4(GALC):c.19_20del (p.Ser7fs) rs1887303860
NM_000153.4(GALC):c.2002A>C (p.Thr668Pro) rs1884498480
NM_000153.4(GALC):c.2006_2009del (p.His669fs)
NM_000153.4(GALC):c.2029del (p.Asp677fs) rs2139925574
NM_000153.4(GALC):c.2036_2040del (p.Phe679fs) rs2139925505
NM_000153.4(GALC):c.2037_2040del (p.Phe679fs) rs754507781
NM_000153.4(GALC):c.2037dup (p.Leu680fs) rs2139925538
NM_000153.4(GALC):c.2056T>C (p.Ter686Gln) rs1406731723
NM_000153.4(GALC):c.210dup (p.Leu71fs) rs1887064841
NM_000153.4(GALC):c.231_232del (p.Tyr78fs)
NM_000153.4(GALC):c.236G>A (p.Arg79His)
NM_000153.4(GALC):c.246A>G (p.Ile82Met)
NM_000153.4(GALC):c.255T>A (p.Tyr85Ter)
NM_000153.4(GALC):c.27del (p.Trp10fs) rs2139769959
NM_000153.4(GALC):c.281del (p.Ser94fs) rs2139758786
NM_000153.4(GALC):c.283_284del (p.Leu95fs) rs2139758767
NM_000153.4(GALC):c.293del (p.Ile97_Leu98insTer)
NM_000153.4(GALC):c.293dup (p.Leu98fs) rs757799254
NM_000153.4(GALC):c.29G>A (p.Trp10Ter) rs2139769937
NM_000153.4(GALC):c.302_308dup (p.Gly104fs) rs2139758703
NM_000153.4(GALC):c.328+1G>A rs779701490
NM_000153.4(GALC):c.332del (p.Gly111fs) rs2139755093
NM_000153.4(GALC):c.349A>T (p.Met117Leu) rs145580093
NM_000153.4(GALC):c.37C>T (p.Arg13Ter) rs1173602413
NM_000153.4(GALC):c.387C>G (p.Tyr129Ter) rs1240965365
NM_000153.4(GALC):c.392G>A (p.Trp131Ter)
NM_000153.4(GALC):c.395G>A (p.Trp132Ter)
NM_000153.4(GALC):c.396G>A (p.Trp132Ter) rs2139754775
NM_000153.4(GALC):c.408del (p.Ala137fs)
NM_000153.4(GALC):c.411_413del (p.Lys139del) rs1555383687
NM_000153.4(GALC):c.432_433dup (p.Thr145fs) rs2139754606
NM_000153.4(GALC):c.433dup (p.Thr145fs) rs1555383679
NM_000153.4(GALC):c.442+1G>A rs1886976159
NM_000153.4(GALC):c.453G>A (p.Trp151Ter) rs745620101
NM_000153.4(GALC):c.467_468dup (p.Leu157fs) rs1057517185
NM_000153.4(GALC):c.488G>A (p.Trp163Ter)
NM_000153.4(GALC):c.498del (p.Asn167fs) rs1886886241
NM_000153.4(GALC):c.505C>T (p.Gln169Ter) rs2139749699
NM_000153.4(GALC):c.516_517del (p.Tyr173fs)
NM_000153.4(GALC):c.521del (p.Tyr174fs) rs1555383517
NM_000153.4(GALC):c.533G>A (p.Trp178Ter) rs968905231
NM_000153.4(GALC):c.542del (p.Gly181fs)
NM_000153.4(GALC):c.560A>T (p.Asp187Val) rs997021099
NM_000153.4(GALC):c.583-1G>C rs1555383310
NM_000153.4(GALC):c.583-2A>G
NM_000153.4(GALC):c.599C>A (p.Ser200Ter) rs786204618
NM_000153.4(GALC):c.620del (p.Lys207fs)
NM_000153.4(GALC):c.621G>A (p.Lys207=) rs1428763453
NM_000153.4(GALC):c.645del (p.Gln216fs)
NM_000153.4(GALC):c.655C>T (p.Gln219Ter)
NM_000153.4(GALC):c.658C>T (p.Arg220Ter) rs766310671
NM_000153.4(GALC):c.674dup (p.Ser226fs) rs1886496591
NM_000153.4(GALC):c.677del (p.Ser226fs)
NM_000153.4(GALC):c.683_694delinsCTC (p.Asn228_Ser232delinsThrPro) rs2140016243
NM_000153.4(GALC):c.688_694del (p.Trp230fs) rs780376041
NM_000153.4(GALC):c.691del (p.Glu231fs)
NM_000153.4(GALC):c.782_783dup (p.Asp262fs) rs2140001750
NM_000153.4(GALC):c.7dup (p.Glu3fs) rs1555384381
NM_000153.4(GALC):c.80_84dup (p.Val29fs)
NM_000153.4(GALC):c.821A>C (p.Glu274Ala) rs2140001660
NM_000153.4(GALC):c.860G>A (p.Cys287Tyr) rs769433488
NM_000153.4(GALC):c.866dup (p.Arg290fs) rs2140001505
NM_000153.4(GALC):c.884A>T (p.Asn295Ile) rs746922378
NM_000153.4(GALC):c.911C>T (p.Thr304Ile)
NM_000153.4(GALC):c.940_1005del (p.Tyr314_Tyr335del)
NM_000153.4(GALC):c.941A>G (p.Tyr314Cys) rs1595215209
NM_000153.4(GALC):c.946C>T (p.Gln316Ter) rs776368825
NM_000153.4(GALC):c.947_950dup (p.Pro318fs) rs2139996377
NM_000153.4(GALC):c.952C>G (p.Pro318Ala) rs1057516642
NM_000153.4(GALC):c.953C>G (p.Pro318Arg) rs387906954
NM_000153.4(GALC):c.955del (p.Tyr319fs) rs786204454
NM_000153.4(GALC):c.967G>A (p.Gly323Arg) rs1472207768
NM_000153.4(GALC):c.967G>T (p.Gly323Trp) rs1472207768
NM_000153.4(GALC):c.972del (p.Leu324_Met325insTer) rs1057516808
NM_000153.4(GALC):c.9del (p.Glu3fs) rs1555384380

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