ClinVar Miner

List of variants reported as likely pathogenic for Galactosylceramide beta-galactosidase deficiency

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Minimum conflict level:
ClinVar version:
Total variants: 207
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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.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661 0.00018
NM_000153.4(GALC):c.195G>C (p.Gly65=) rs886042057 0.00010
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.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.1814dup (p.Tyr605Ter) rs766007316 0.00002
NM_000153.4(GALC):c.391T>C (p.Trp131Arg) rs746507078 0.00002
NM_000153.4(GALC):c.628A>T (p.Arg210Ter) rs202131052 0.00002
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983 0.00002
NM_000153.4(GALC):c.1174T>C (p.Ser392Pro) rs1200769534 0.00001
NM_000153.4(GALC):c.1187G>A (p.Arg396Gln) rs887930208 0.00001
NM_000153.4(GALC):c.1252-2A>G rs1166863449 0.00001
NM_000153.4(GALC):c.129C>G (p.Tyr43Ter) rs1057516816 0.00001
NM_000153.4(GALC):c.1400C>A (p.Thr467Asn) rs750431739 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.1858G>A (p.Gly620Arg) rs779864190 0.00001
NM_000153.4(GALC):c.1898C>T (p.Thr633Met) rs766762599 0.00001
NM_000153.4(GALC):c.1913G>T (p.Gly638Val) rs1162671660 0.00001
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro) rs1249991480 0.00001
NM_000153.4(GALC):c.195+1G>A rs1009872980 0.00001
NM_000153.4(GALC):c.205C>T (p.Arg69Ter) rs771111145 0.00001
NM_000153.4(GALC):c.2T>A (p.Met1Lys) rs780972896 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.3G>A (p.Met1Ile) rs758685128 0.00001
NM_000153.4(GALC):c.489G>A (p.Trp163Ter) rs761550284 0.00001
NM_000153.4(GALC):c.582+1G>A rs750881596 0.00001
NM_000153.4(GALC):c.583-6T>A rs398123176 0.00001
NM_000153.4(GALC):c.592G>A (p.Glu198Lys) rs909979938 0.00001
NM_000153.4(GALC):c.621+1G>A rs759511006 0.00001
NM_000153.4(GALC):c.622-1G>T rs1886499951 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.869G>A (p.Arg290His) rs746806459 0.00001
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) rs756352952 0.00001
NC_000014.9:g.(?_87934712)_(87949951_?)del
NC_000014.9:g.(?_87949835)_(87949941_?)del
NC_000014.9:g.(?_87963374)_(87963521_?)dup
NC_000014.9:g.(?_87965495)_(87968500_?)dup
NC_000014.9:g.87925163_87956828del
NM_000153.3(GALC):c.243_244dup (p.Ile82Argfs) rs886043419
NM_000153.4(GALC):c.1012del (p.Glu338fs) rs1057516469
NM_000153.4(GALC):c.1021del (p.Val341fs) rs1057517382
NM_000153.4(GALC):c.1031C>A (p.Ser344Ter)
NM_000153.4(GALC):c.1033+1G>A rs2139996044
NM_000153.4(GALC):c.1034-1G>C
NM_000153.4(GALC):c.1034-2A>G
NM_000153.4(GALC):c.1065G>A (p.Trp355Ter) rs1057516270
NM_000153.4(GALC):c.110_123dup (p.Ala42fs) rs1555384342
NM_000153.4(GALC):c.1151T>A (p.Ile384Asn)
NM_000153.4(GALC):c.1161+1del rs1555381417
NM_000153.4(GALC):c.1161+2T>A
NM_000153.4(GALC):c.1162-1G>A
NM_000153.4(GALC):c.1168A>T (p.Lys390Ter)
NM_000153.4(GALC):c.1178del (p.Lys393fs)
NM_000153.4(GALC):c.1185dup (p.Arg396fs) rs1885268471
NM_000153.4(GALC):c.1240A>T (p.Lys414Ter)
NM_000153.4(GALC):c.1251+1del
NM_000153.4(GALC):c.1272_1273insTAG (p.Val425Ter) rs1057517372
NM_000153.4(GALC):c.1273del (p.Val425fs) rs1057516394
NM_000153.4(GALC):c.1273dup (p.Val425fs) rs1057516394
NM_000153.4(GALC):c.1276T>G (p.Trp426Gly) rs2139961618
NM_000153.4(GALC):c.129C>A (p.Tyr43Ter) rs1057516816
NM_000153.4(GALC):c.1338+1G>C rs1555379669
NM_000153.4(GALC):c.1338+1G>T rs1555379669
NM_000153.4(GALC):c.1365_1366del (p.Leu456fs)
NM_000153.4(GALC):c.136G>C (p.Asp46His) rs751975987
NM_000153.4(GALC):c.1394C>T (p.Thr465Ile) rs1566974586
NM_000153.4(GALC):c.1400C>T (p.Thr467Ile) rs750431739
NM_000153.4(GALC):c.141_143delinsG (p.Asp47fs) rs1555384335
NM_000153.4(GALC):c.1420A>T (p.Lys474Ter)
NM_000153.4(GALC):c.1426dup (p.Ser476fs) rs1057517082
NM_000153.4(GALC):c.1437dup (p.Pro480fs)
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn) rs202135871
NM_000153.4(GALC):c.1469A>G (p.Tyr490Cys)
NM_000153.4(GALC):c.155del (p.Gly52fs) rs1064793131
NM_000153.4(GALC):c.1592G>T (p.Arg531Leu) rs200378205
NM_000153.4(GALC):c.1613delinsACTCAGCAG (p.Pro538fs)
NM_000153.4(GALC):c.1623G>A (p.Trp541Ter)
NM_000153.4(GALC):c.1670+1G>A rs749597090
NM_000153.4(GALC):c.1670+1G>T rs749597090
NM_000153.4(GALC):c.1685T>A (p.Ile562Lys)
NM_000153.4(GALC):c.1690T>G (p.Cys564Gly) rs1595190129
NM_000153.4(GALC):c.169G>C (p.Gly57Arg) rs11623
NM_000153.4(GALC):c.169G>T (p.Gly57Cys) rs11623
NM_000153.4(GALC):c.170G>A (p.Gly57Asp)
NM_000153.4(GALC):c.170G>T (p.Gly57Val) rs1217139658
NM_000153.4(GALC):c.1712dup (p.Pro571_Asp572insTer) rs1555378701
NM_000153.4(GALC):c.1717dup (p.Thr573fs)
NM_000153.4(GALC):c.1736C>A (p.Ala579Glu) rs1423625765
NM_000153.4(GALC):c.1754G>A (p.Gly585Asp) rs776098499
NM_000153.4(GALC):c.1757G>A (p.Gly586Asp) rs2139941444
NM_000153.4(GALC):c.175G>A (p.Gly59Ser) rs764757647
NM_000153.4(GALC):c.175G>T (p.Gly59Cys)
NM_000153.4(GALC):c.1763del (p.Ile587_Leu588insTer) rs751283440
NM_000153.4(GALC):c.1781G>T (p.Gly594Val) rs2139941367
NM_000153.4(GALC):c.1829A>C (p.Asp610Ala) rs754732860
NM_000153.4(GALC):c.1834+1G>A
NM_000153.4(GALC):c.1835-1G>A rs1555378562
NM_000153.4(GALC):c.1837G>T (p.Gly613Ter) rs1057517033
NM_000153.4(GALC):c.1851del (p.Ile616_Tyr617insTer) rs1057516433
NM_000153.4(GALC):c.1859G>C (p.Gly620Ala)
NM_000153.4(GALC):c.1882A>T (p.Lys628Ter)
NM_000153.4(GALC):c.1884dup (p.Trp629fs) rs1336726861
NM_000153.4(GALC):c.1886G>T (p.Trp629Leu) rs1566967736
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.1898C>G (p.Thr633Arg) rs766762599
NM_000153.4(GALC):c.1901del (p.Thr633_Leu634insTer) rs1555378534
NM_000153.4(GALC):c.190_195+9del rs1057517187
NM_000153.4(GALC):c.1911+1_1911+5del rs777955784
NM_000153.4(GALC):c.1912-1G>C rs1555377947
NM_000153.4(GALC):c.193G>T (p.Gly65Trp) rs1887277350
NM_000153.4(GALC):c.1942A>T (p.Lys648Ter) rs1884501856
NM_000153.4(GALC):c.195+1G>C rs1009872980
NM_000153.4(GALC):c.1952G>A (p.Trp651Ter)
NM_000153.4(GALC):c.196G>A (p.Ala66Thr) rs1057518843
NM_000153.4(GALC):c.1978A>T (p.Lys660Ter) rs762034337
NM_000153.4(GALC):c.199A>C (p.Thr67Pro) rs2139759522
NM_000153.4(GALC):c.1A>G (p.Met1Val) rs1555384382
NM_000153.4(GALC):c.2002A>G (p.Thr668Ala) rs1884498480
NM_000153.4(GALC):c.200C>A (p.Thr67Asn)
NM_000153.4(GALC):c.200C>T (p.Thr67Ile) rs1478697086
NM_000153.4(GALC):c.203C>T (p.Ser68Phe) rs1555383892
NM_000153.4(GALC):c.2042T>C (p.Val681Ala)
NM_000153.4(GALC):c.2042T>G (p.Val681Gly)
NM_000153.4(GALC):c.222C>G (p.Tyr74Ter) rs959445153
NM_000153.4(GALC):c.236G>C (p.Arg79Pro)
NM_000153.4(GALC):c.264+1G>A rs1458925593
NM_000153.4(GALC):c.264+2T>C
NM_000153.4(GALC):c.264+2T>G
NM_000153.4(GALC):c.264+3A>C rs1567014543
NM_000153.4(GALC):c.284dup (p.Leu95fs)
NM_000153.4(GALC):c.2T>C (p.Met1Thr) rs780972896
NM_000153.4(GALC):c.316G>A (p.Gly106Arg)
NM_000153.4(GALC):c.329-1G>A rs1365632054
NM_000153.4(GALC):c.329-2A>G rs2139755114
NM_000153.4(GALC):c.349A>C (p.Met117Leu) rs145580093
NM_000153.4(GALC):c.349A>T (p.Met117Leu) rs145580093
NM_000153.4(GALC):c.371_372insCATTGCAAACT (p.Tyr125fs)
NM_000153.4(GALC):c.387C>G (p.Tyr129Ter) rs1240965365
NM_000153.4(GALC):c.388G>C (p.Glu130Gln)
NM_000153.4(GALC):c.389A>G (p.Glu130Gly)
NM_000153.4(GALC):c.403A>T (p.Lys135Ter)
NM_000153.4(GALC):c.411_413del (p.Lys139del) rs1555383687
NM_000153.4(GALC):c.415A>T (p.Lys139Ter) rs1057516673
NM_000153.4(GALC):c.433dup (p.Thr145fs) rs1555383679
NM_000153.4(GALC):c.442+2T>G rs1057516632
NM_000153.4(GALC):c.443-1G>C rs1886890531
NM_000153.4(GALC):c.443-2A>G rs1595236714
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.49_50del (p.Met17fs) rs1555384360
NM_000153.4(GALC):c.521del (p.Tyr174fs) rs1555383517
NM_000153.4(GALC):c.533G>A (p.Trp178Ter) rs968905231
NM_000153.4(GALC):c.560A>T (p.Asp187Val) rs997021099
NM_000153.4(GALC):c.578T>C (p.Ile193Thr) rs1555383498
NM_000153.4(GALC):c.582+1G>C
NM_000153.4(GALC):c.582+2T>C
NM_000153.4(GALC):c.583-1G>C rs1555383310
NM_000153.4(GALC):c.591dup (p.Glu198Ter) rs1555383308
NM_000153.4(GALC):c.593A>C (p.Glu198Ala)
NM_000153.4(GALC):c.599C>A (p.Ser200Ter) rs786204618
NM_000153.4(GALC):c.621+5G>A rs1555383306
NM_000153.4(GALC):c.646_647del (p.Gln216fs)
NM_000153.4(GALC):c.658C>T (p.Arg220Ter) rs766310671
NM_000153.4(GALC):c.65_74del (p.Gly22fs) rs1595246385
NM_000153.4(GALC):c.680A>G (p.Asp227Gly) rs1886495923
NM_000153.4(GALC):c.739G>T (p.Val247Phe) rs2140016089
NM_000153.4(GALC):c.752+1G>A rs2140016050
NM_000153.4(GALC):c.757C>T (p.His253Tyr)
NM_000153.4(GALC):c.764C>A (p.Pro255His) rs1886148366
NM_000153.4(GALC):c.7dup (p.Glu3fs) rs1555384381
NM_000153.4(GALC):c.822A>C (p.Glu274Asp)
NM_000153.4(GALC):c.824A>G (p.Asp275Gly)
NM_000153.4(GALC):c.827_828del (p.Asp275_Phe276insTer) rs1555381958
NM_000153.4(GALC):c.830G>A (p.Ser277Asn) rs1886145312
NM_000153.4(GALC):c.851G>A (p.Gly284Asp)
NM_000153.4(GALC):c.851del (p.Gly284fs)
NM_000153.4(GALC):c.856G>C (p.Gly286Arg)
NM_000153.4(GALC):c.868C>A (p.Arg290Ser)
NM_000153.4(GALC):c.884A>C (p.Asn295Thr) rs746922378
NM_000153.4(GALC):c.884A>T (p.Asn295Ile) rs746922378
NM_000153.4(GALC):c.896G>A (p.Gly299Asp) rs1566993126
NM_000153.4(GALC):c.908+1G>T rs750524447
NM_000153.4(GALC):c.940T>C (p.Tyr314His) rs2139996434
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.953C>T (p.Pro318Leu)
NM_000153.4(GALC):c.955del (p.Tyr319fs) rs786204454
NM_000153.4(GALC):c.957T>A (p.Tyr319Ter)
NM_000153.4(GALC):c.972del (p.Leu324_Met325insTer) rs1057516808
NM_000153.4(GALC):c.992_993insCT (p.Trp331fs)
NM_000153.4(GALC):c.9del (p.Glu3fs) rs1555384380
NM_018418.5(SPATA7):c.239-522_239-436del

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