ClinVar Miner

List of variants in gene GALC reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 61
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HGVS dbSNP
NC_000014.9:g.87963136del rs143103231
NC_000014.9:g.87976606_87976609del rs146880216
NC_000014.9:g.87988724del rs112118889
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.1072C>T (p.Leu358=) rs74073730
NM_000153.4(GALC):c.1075_1084del (p.Lys359fs) rs1555381439
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.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.1399dup (p.Thr467fs) rs1057518390
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn) rs202135871
NM_000153.4(GALC):c.1490-233C>T rs3910682
NM_000153.4(GALC):c.155del (p.Gly52fs) rs1064793131
NM_000153.4(GALC):c.1592G>A (p.Arg531His) rs200378205
NM_000153.4(GALC):c.1670+204T>C rs430536
NM_000153.4(GALC):c.1670+94A>G rs444902
NM_000153.4(GALC):c.1671-319A>G rs367125
NM_000153.4(GALC):c.169G>A (p.Gly57Ser) rs11623
NM_000153.4(GALC):c.173del (p.Ile58fs) rs1064795927
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.195+164G>A rs78727833
NM_000153.4(GALC):c.195+19G>A rs189853941
NM_000153.4(GALC):c.195+1G>A rs1009872980
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.328+3A>G rs377682096
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.379C>T (p.Arg127Ter) rs200532368
NM_000153.4(GALC):c.430del (p.Ile144fs) rs775277935
NM_000153.4(GALC):c.583-288G>A rs74563284
NM_000153.4(GALC):c.60C>T (p.Ala20=) rs188488238
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.749T>C (p.Ile250Thr) rs886039569
NM_000153.4(GALC):c.752+199A>T rs4904409
NM_000153.4(GALC):c.788C>G (p.Ala263Gly) rs1292976689
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983
NM_000153.4(GALC):c.908+270T>A rs397644
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) rs756352952
NM_000153.4(GALC):c.955del (p.Tyr319fs) rs786204454
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855
NM_001201402.1(GALC):c.113C>T (p.Pro38Leu) rs181004720
NM_001201402.1(GALC):c.117+71T>C rs76999174

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