Variants in gene GALC with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status:		Submission 2 (likely benign) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 38

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HGVS	dbSNP	gnomAD frequency
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser)	rs34134328	0.00483
NM_000153.4(GALC):c.997G>A (p.Gly333Arg)	rs190921137	0.00248
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)	rs147313927	0.00229
NM_000153.4(GALC):c.-318T>C	rs556647825	0.00210
NM_000153.4(GALC):c.525C>T (p.Val175=)	rs181066089	0.00199
NM_000153.4(GALC):c.1489+3G>A	rs186664912	0.00124
NM_000153.4(GALC):c.-327G>T	rs185943390	0.00120
NM_000153.4(GALC):c.659G>A (p.Arg220Gln)	rs199967869	0.00107
NM_000153.4(GALC):c.-67T>G	rs571945132	0.00070
NM_000153.4(GALC):c.1717A>G (p.Thr573Ala)	rs200219480	0.00023
NM_000153.4(GALC):c.1272G>A (p.Gln424=)	rs376675180	0.00019
NM_000153.4(GALC):c.1573G>A (p.Glu525Lys)	rs146286491	0.00019
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)	rs183105855	0.00019
NM_000153.4(GALC):c.708C>T (p.Ser236=)	rs773666802	0.00017
NM_000153.4(GALC):c.1629C>T (p.Ala543=)	rs201055535	0.00015
NM_000153.4(GALC):c.328+6A>G	rs201977747	0.00011
NM_000153.4(GALC):c.1803A>G (p.Ala601=)	rs372465848	0.00009
NM_000153.4(GALC):c.120C>T (p.Gly40=)	rs532800656	0.00006
NM_000153.4(GALC):c.18C>G (p.Leu6=)	rs886038260	0.00006
NM_000153.4(GALC):c.28T>C (p.Trp10Arg)	rs767913083	0.00004
NM_000153.4(GALC):c.1587G>A (p.Thr529=)	rs184748969	0.00002
NM_000153.4(GALC):c.318G>A (p.Gly106=)	rs886050867	0.00002
NM_000153.4(GALC):c.583-4G>T	rs751820306	0.00002
NM_000153.4(GALC):c.1443A>G (p.Pro481=)	rs1359281521	0.00001
NM_000153.4(GALC):c.1572C>T (p.Gly524=)	rs753164684	0.00001
NM_000153.4(GALC):c.1752A>G (p.Lys584=)	rs201016488	0.00001
NM_000153.4(GALC):c.2001A>C (p.Gly667=)	rs769902280	0.00001
NM_000153.4(GALC):c.450A>T (p.Pro150=)	rs886050866	0.00001
NM_000153.4(GALC):c.81C>T (p.Ala27=)	rs759433028	0.00001
NM_000153.4(GALC):c.-80_-75delATCAGC	rs564526560
NM_000153.4(GALC):c.1110C>T (p.Tyr370=)	rs372793797
NM_000153.4(GALC):c.1758T>C (p.Gly586=)	rs746189262
NM_000153.4(GALC):c.196-4_196-3del	rs561184126
NM_000153.4(GALC):c.329-10_329-8del	rs770389075
NM_000153.4(GALC):c.41C>G (p.Ala14Gly)	rs373587692
NM_000153.4(GALC):c.516C>T (p.Ala172=)	rs1248283732
NM_000153.4(GALC):c.65G>A (p.Gly22Asp)	rs372285275
NM_000153.4(GALC):c.678T>C (p.Ser226=)	rs1595226323

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