List of variants in gene GALC reported as pathogenic for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 53

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HGVS	dbSNP	gnomAD frequency
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.266C>T (p.Pro89Leu)	rs201422931	0.00014
NM_000153.4(GALC):c.1586C>T (p.Thr529Met)	rs200960659	0.00009
NM_000153.4(GALC):c.1592G>A (p.Arg531His)	rs200378205	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.850G>A (p.Gly284Ser)	rs377274761	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.430del (p.Ile144fs)	rs775277935	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.1004A>G (p.Tyr335Cys)	rs757407613	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.205C>T (p.Arg69Ter)	rs771111145	0.00001
NM_000153.4(GALC):c.379C>T (p.Arg127Ter)	rs200532368	0.00001
NM_000153.4(GALC):c.489G>A (p.Trp163Ter)	rs761550284	0.00001
NM_000153.4(GALC):c.622-1G>T	rs1886499951	0.00001
NM_000153.4(GALC):c.749T>C (p.Ile250Thr)	rs886039569	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
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(chr14:88399622-88422569)x1
GRCh37/hg19 14q31.3(chr14:88400251-88422569)x1
GRCh37/hg19 14q31.3(chr14:88400285-88422569)x1
GRCh37/hg19 14q31.3(chr14:88401076-88417092)x1
NM_000153.3(GALC):c.243_244dup (p.Ile82Argfs)	rs886043419
NM_000153.4(GALC):c.1075_1084del (p.Lys359fs)	rs1555381439
NM_000153.4(GALC):c.1107C>G (p.Ser369Arg)	rs1885895082
NM_000153.4(GALC):c.1158_1161+6del	rs759068540
NM_000153.4(GALC):c.1161+2T>G	rs398123175
NM_000153.4(GALC):c.1171_1175delinsA (p.His391fs)	rs1885269233
NM_000153.4(GALC):c.1399dup (p.Thr467fs)	rs1057518390
NM_000153.4(GALC):c.1472del (p.Lys491fs)	rs771489305
NM_000153.4(GALC):c.1488_1489+2del	rs1555379355
NM_000153.4(GALC):c.1531del (p.Thr511fs)	rs2139951585
NM_000153.4(GALC):c.1665C>G (p.Tyr555Ter)	rs1566972341
NM_000153.4(GALC):c.1736_1739del (p.Ala579fs)	rs754668472
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.293dup (p.Leu98fs)	rs757799254
NM_000153.4(GALC):c.433dup (p.Thr145fs)	rs1555383679
NM_000153.4(GALC):c.453G>A (p.Trp151Ter)	rs745620101
NM_000153.4(GALC):c.658C>T (p.Arg220Ter)	rs766310671
NM_000153.4(GALC):c.943del (p.Glu315fs)	rs1886008578
NM_000153.4(GALC):c.952C>G (p.Pro318Ala)	rs1057516642
NM_000153.4(GALC):c.955del (p.Tyr319fs)	rs786204454

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