"Natera, Inc."[submitter] AND "GALC"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 633227	NM_000153.4(GALC):c.2035T>C (p.Phe679Leu)	GALC (F679L +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GUncertain significance
Select item 555965	NM_000153.4(GALC):c.1949T>C (p.Leu650Pro)	GALC (L650P +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 92500	NM_000153.4(GALC):c.1921A>G (p.Thr641Ala)	GALC (T641A +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 194698	NM_000153.4(GALC):c.1912G>A (p.Gly638Ser)	GALC (G638S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 225368	NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)	GALC (L634S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 858517	NM_000153.4(GALC):c.1898C>T (p.Thr633Met)	GALC (T607M +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GConflicting classifications of pathogenicity
Select item 1071897	NM_000153.4(GALC):c.1884del (p.Lys628fs)	GALC (K602fs +2 more)	Deletion (frameshift variant)	Galactosylceramide beta-galactosidase deficiency	GPathogenic
Select item 1210861	NM_000153.4(GALC):c.1858G>A (p.Gly620Arg)	GALC (G594R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 92499	NM_000153.4(GALC):c.1834+5C>G	GALC	Single nucleotide variant (intron variant)	GALC-related condition +3 more	GBenign
Select item 456715	NM_000153.4(GALC):c.1788C>T (p.Phe596=)	GALC	Single nucleotide variant (synonymous variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GBenign/Likely benign
Select item 990182	NM_000153.4(GALC):c.1758T>C (p.Gly586=)	GALC	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 752412	NM_000153.4(GALC):c.1752A>G (p.Lys584=)	GALC	Single nucleotide variant (synonymous variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 314745	NM_000153.4(GALC):c.1731C>T (p.Phe577=)	GALC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 287587	NM_000153.4(GALC):c.1717A>G (p.Thr573Ala)	GALC (T573A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 990183	NM_000153.4(GALC):c.1709C>A (p.Thr570Asn)	GALC (T544N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 188969	NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser)	GALC (Y567S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 92498	NM_000153.4(GALC):c.1698A>T (p.Val566=)	GALC	Single nucleotide variant (synonymous variant)	GALC-related condition +3 more	GBenign
Select item 189113	NM_000153.4(GALC):c.1657G>A (p.Gly553Arg)	GALC (G553R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1026038	NM_000153.4(GALC):c.1634C>A (p.Ala545Glu)	GALC (A519E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 703887	NM_000153.4(GALC):c.1629C>T (p.Ala543=)	GALC	Single nucleotide variant (synonymous variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 167118	NM_000153.4(GALC):c.1620A>G (p.Thr540=)	GALC	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 793521	NM_000153.4(GALC):c.1587G>A (p.Thr529=)	GALC	Single nucleotide variant (synonymous variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GLikely benign
Select item 370073	NM_000153.4(GALC):c.1586C>T (p.Thr529Met)	GALC (T529M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 314747	NM_000153.4(GALC):c.1573G>A (p.Glu525Lys)	GALC (E525K +2 more)	Single nucleotide variant (missense variant)	GALC-related condition +1 more	GConflicting classifications of pathogenicity
Select item 949256	NM_000153.4(GALC):c.1572C>T (p.Gly524=)	GALC	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 286665	NM_000153.4(GALC):c.1567C>A (p.Pro523Thr)	GALC (P523T +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +2 more	GUncertain significance
Select item 289955	NM_000153.4(GALC):c.1541T>C (p.Phe514Ser)	GALC (F514S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 990184	NM_000153.4(GALC):c.1490-7T>A	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 990185	NM_000153.4(GALC):c.1490-8C>G	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 712789	NM_000153.4(GALC):c.1489+3G>A	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 188826	NM_000153.4(GALC):c.1472del (p.Lys491fs)	GALC (K468fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 663643	NM_000153.4(GALC):c.1453C>T (p.Pro485Ser)	GALC (P462S +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 972103	NM_000153.4(GALC):c.1441C>T (p.Pro481Ser)	GALC (P455S +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 990186	NM_000153.4(GALC):c.1436T>C (p.Leu479Pro)	GALC (L453P +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 705130	NM_000153.4(GALC):c.1434G>A (p.Pro478=)	GALC	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 92495	NM_000153.4(GALC):c.1403C>G (p.Thr468Ser)	GALC (T468S +2 more)	Single nucleotide variant (missense variant)	GALC-related condition +3 more	GConflicting classifications of pathogenicity
Select item 990187	NM_000153.4(GALC):c.1392C>A (p.Phe464Leu)	GALC (F438L +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 377174	NM_000153.4(GALC):c.1355G>A (p.Gly452Asp)	GALC (G452D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 990188	NM_000153.4(GALC):c.1351G>T (p.Asp451Tyr)	GALC (D425Y +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 92494	NM_000153.4(GALC):c.1350C>T (p.Ser450=)	GALC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 958166	NM_000153.4(GALC):c.1335_1336del (p.Trp446fs)	GALC (W446fs +2 more)	Deletion (frameshift variant)	Galactosylceramide beta-galactosidase deficiency	GPathogenic
Select item 255370	NM_000153.4(GALC):c.1302C>T (p.Ser434=)	GALC	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 703460	NM_000153.4(GALC):c.1272G>A (p.Gln424=)	GALC	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 456712	NM_000153.4(GALC):c.1186C>T (p.Arg396Trp)	GALC (R396W +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +2 more	GPathogenic
Select item 972396	NM_000153.4(GALC):c.1184T>C (p.Ile395Thr)	GALC (I369T +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 92493	NM_000153.4(GALC):c.1162-4del	GALC	Deletion (intron variant)	GALC-related condition +3 more	GBenign
Select item 990189	NM_000153.4(GALC):c.1161+9T>C	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 444335	NM_000153.4(GALC):c.1158_1161+6del	GALC	Deletion (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 456711	NM_000153.4(GALC):c.1161+1del	GALC	Deletion (splice donor variant)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 990190	NM_000153.4(GALC):c.1114G>A (p.Ala372Thr)	GALC (A346T +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 747639	NM_000153.4(GALC):c.1110C>T (p.Tyr370=)	GALC	Single nucleotide variant (synonymous variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 988317	NM_000153.4(GALC):c.1083dup (p.Gly362fs)	GALC (G336fs +2 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 314751	NM_000153.4(GALC):c.1072C>T (p.Leu358=)	GALC	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 990191	NM_000153.4(GALC):c.1042A>T (p.Thr348Ser)	GALC (T322S +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GUncertain significance
Select item 1067446	NM_000153.4(GALC):c.1033+1G>A	GALC	Single nucleotide variant (splice donor variant)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 314752	NM_000153.4(GALC):c.1006G>A (p.Val336Met)	GALC (V336M +2 more)	Single nucleotide variant (missense variant)	GALC-related condition +3 more	GBenign/Likely benign
Select item 651170	NM_000153.4(GALC):c.1004A>G (p.Tyr335Cys)	GALC (Y312C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 314753	NM_000153.4(GALC):c.997G>A (p.Gly333Arg)	GALC (G333R +2 more)	Single nucleotide variant (missense variant)	GALC-related condition +2 more	GConflicting classifications of pathogenicity
Select item 92513	NM_000153.4(GALC):c.984G>A (p.Gln328=)	GALC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1158401	NM_000153.4(GALC):c.970T>C (p.Leu324=)	GALC	Single nucleotide variant (synonymous variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 1010987	NM_000153.4(GALC):c.949T>A (p.Leu317Met)	GALC (L291M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 990192	NM_000153.4(GALC):c.909-3del	GALC	Deletion (intron variant)	Galactosylceramide beta-galactosidase deficiency	GBenign
Select item 280957	NM_000153.4(GALC):c.908C>T (p.Ser303Phe)	GALC (S303F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 30619	NM_000153.4(GALC):c.857G>A (p.Gly286Asp)	GALC (G286D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 546426	NM_000153.4(GALC):c.788C>G (p.Ala263Gly)	GALC (A263G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 575192	NM_000153.4(GALC):c.787G>A (p.Ala263Thr)	GALC (A263T +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 567129	NM_000153.4(GALC):c.752+3A>G	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 265479	NM_000153.4(GALC):c.749T>C (p.Ile250Thr)	GALC (I250T +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 990193	NM_000153.4(GALC):c.680A>G (p.Asp227Gly)	GALC (D201G +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 753387	NM_000153.4(GALC):c.678T>C (p.Ser226=)	GALC	Single nucleotide variant (synonymous variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 963553	NM_000153.4(GALC):c.674C>A (p.Ala225Glu)	GALC (A225E +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GPathogenic
Select item 189024	NM_000153.4(GALC):c.658C>T (p.Arg220Ter)	GALC (R220* +2 more)	Single nucleotide variant (nonsense)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 369724	NM_000153.4(GALC):c.628A>T (p.Arg210Ter)	GALC (R210* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 550179	NM_000153.4(GALC):c.621G>A (p.Lys207=)	GALC	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 990194	NM_000153.4(GALC):c.597G>T (p.Arg199Ser)	GALC (R173S +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 990195	NM_000153.4(GALC):c.583-4G>T	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 92507	NM_000153.4(GALC):c.583-6T>A	GALC	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 642832	NM_000153.4(GALC):c.560A>T (p.Asp187Val)	GALC (D164V +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 496798	NM_000153.4(GALC):c.525C>T (p.Val175=)	GALC	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 990850	NM_000153.4(GALC):c.516C>T (p.Ala172=)	GALC	Single nucleotide variant (synonymous variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 642301	NM_000153.4(GALC):c.453G>A (p.Trp151Ter)	GALC (W125* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 553285	NM_000153.4(GALC):c.433dup (p.Thr145fs)	GALC (T145fs +2 more)	Duplication (frameshift variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 255376	NM_000153.4(GALC):c.397T>C (p.Leu133=)	GALC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 429982	NM_000153.4(GALC):c.379C>T (p.Arg127Ter)	GALC (R127* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 92503	NM_000153.4(GALC):c.334A>G (p.Thr112Ala)	GALC (T112A +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 211058	NM_000153.4(GALC):c.331G>A (p.Gly111Ser)	GALC (G111S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 92502	NM_000153.4(GALC):c.330C>T (p.Asp110=)	GALC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 314756	NM_000153.4(GALC):c.329-10_329-8del	GALC	Microsatellite (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 314757	NM_000153.4(GALC):c.328+6A>G	GALC	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 847755	NM_000153.4(GALC):c.264+1G>A	GALC	Single nucleotide variant (intron variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 655524	NM_000153.4(GALC):c.235C>T (p.Arg79Cys)	GALC (R79C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 990851	NM_000153.4(GALC):c.233A>G (p.Tyr78Cys)	GALC (Y52C +1 more)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 381334	NM_000153.4(GALC):c.226G>A (p.Glu76Lys)	GALC (E76K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 550136	NM_000153.4(GALC):c.206G>A (p.Arg69Gln)	GALC (R69Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 195020	NM_000153.4(GALC):c.205C>T (p.Arg69Ter)	GALC (R69* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 456716	NM_000153.4(GALC):c.195+10A>G	GALC, LOC130056217	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GBenign/Likely benign
Select item 969521	NM_000153.4(GALC):c.192C>T (p.Gly64=)	GALC, LOC130056217	Single nucleotide variant (synonymous variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 797930	NM_000153.4(GALC):c.144C>T (p.Ser48=)	GALC, LOC130056217	Single nucleotide variant (synonymous variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 633229	NM_000153.4(GALC):c.136G>T (p.Asp46Tyr)	GALC, LOC130056217 (D46Y)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GPathogenic
Select item 777069	NM_000153.4(GALC):c.120C>T (p.Gly40=)	GALC	Single nucleotide variant (synonymous variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GConflicting classifications of pathogenicity

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