ClinVar Miner

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

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Total variants: 91
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HGVS dbSNP
GALC, 1-BP DEL, 1901T
GALC, 30-KB DEL, IVS10
GALC, GLY553ARG
GALC, IVS13DS, G-A, +1
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.(?_88431972_88439445del
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
NM_000153.4(GALC):c.1004A>G (p.Tyr335Cys) rs757407613
NM_000153.4(GALC):c.1012del (p.Glu338fs) rs1057516469
NM_000153.4(GALC):c.1021del (p.Val341fs) rs1057517382
NM_000153.4(GALC):c.1083dup (p.Gly362fs)
NM_000153.4(GALC):c.1153G>T (p.Glu385Ter) rs121908010
NM_000153.4(GALC):c.1158_1161+6del rs759068540
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp) rs770485731
NM_000153.4(GALC):c.121G>A (p.Gly41Ser) rs387906955
NM_000153.4(GALC):c.129C>G (p.Tyr43Ter) rs1057516816
NM_000153.4(GALC):c.1335_1336del (p.Trp446fs)
NM_000153.4(GALC):c.1339-1G>T
NM_000153.4(GALC):c.136G>T (p.Asp46Tyr) rs751975987
NM_000153.4(GALC):c.1411_1432del (p.Thr471fs)
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn) rs202135871
NM_000153.4(GALC):c.1472del (p.Lys491fs) rs771489305
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser) rs375867319
NM_000153.4(GALC):c.155del (p.Gly52fs) rs1064793131
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.1657G>A (p.Gly553Arg) rs748573754
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.1762_1763del (p.Leu588fs)
NM_000153.4(GALC):c.176del (p.Gly59fs)
NM_000153.4(GALC):c.1793G>A (p.Trp598Ter)
NM_000153.4(GALC):c.1796T>G (p.Ile599Ser) rs387906953
NM_000153.4(GALC):c.1814dup (p.Tyr605Ter) rs766007316
NM_000153.4(GALC):c.181_182insAG (p.Val61fs)
NM_000153.4(GALC):c.1851del (p.Ile616_Tyr617insTer) rs1057516433
NM_000153.4(GALC):c.1884del (p.Lys628fs)
NM_000153.4(GALC):c.1896_1900del (p.Thr633fs) rs749708827
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661
NM_000153.4(GALC):c.194G>A (p.Gly65Glu) rs1555384318
NM_000153.4(GALC):c.195+1G>A rs1009872980
NM_000153.4(GALC):c.195G>C (p.Gly65=) rs886042057
NM_000153.4(GALC):c.2002A>C (p.Thr668Pro)
NM_000153.4(GALC):c.205C>T (p.Arg69Ter) rs771111145
NM_000153.4(GALC):c.210dup (p.Leu71fs)
NM_000153.4(GALC):c.302_308dup (p.Gly104fs)
NM_000153.4(GALC):c.328+1G>T rs779701490
NM_000153.4(GALC):c.331G>A (p.Gly111Ser) rs756690487
NM_000153.4(GALC):c.332del (p.Gly111fs)
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.379C>T (p.Arg127Ter) rs200532368
NM_000153.4(GALC):c.37C>T (p.Arg13Ter)
NM_000153.4(GALC):c.430del (p.Ile144fs) rs775277935
NM_000153.4(GALC):c.432_433dup (p.Thr145fs)
NM_000153.4(GALC):c.433dup (p.Thr145fs) rs1555383679
NM_000153.4(GALC):c.442+1G>A
NM_000153.4(GALC):c.453G>A (p.Trp151Ter) rs745620101
NM_000153.4(GALC):c.489G>A (p.Trp163Ter) rs761550284
NM_000153.4(GALC):c.498del (p.Asn167fs)
NM_000153.4(GALC):c.583-1G>C rs1555383310
NM_000153.4(GALC):c.599C>A (p.Ser200Ter) rs786204618
NM_000153.4(GALC):c.621G>A (p.Lys207=) rs1428763453
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.674dup (p.Ser226fs)
NM_000153.4(GALC):c.686_694del (p.Leu229_Ser232delinsPro)
NM_000153.4(GALC):c.749T>C (p.Ile250Thr) rs886039569
NM_000153.4(GALC):c.7dup (p.Glu3fs) rs1555384381
NM_000153.4(GALC):c.850G>A (p.Gly284Ser) rs377274761
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983
NM_000153.4(GALC):c.863G>A (p.Trp288Ter)
NM_000153.4(GALC):c.908+1G>A rs750524447
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) rs756352952
NM_000153.4(GALC):c.946C>T (p.Gln316Ter) rs776368825
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.956A>G (p.Tyr319Cys) rs183105855
NM_000153.4(GALC):c.972del (p.Leu324_Met325insTer) rs1057516808
NM_000153.4(GALC):c.982C>T (p.Gln328Ter)

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