"GeneDx"[submitter] AND "GALC"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 1066870	NM_000153.4(GALC):c.2056T>C (p.Ter686Gln)	GALC	Single nucleotide variant (stop lost)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 208291	NM_000153.4(GALC):c.2041G>A (p.Val681Met)	GALC (V681M +2 more)	Single nucleotide variant (missense variant)	not specified +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)	Galactosylceramide beta-galactosidase deficiency +2 more	GBenign
Select item 680310	NM_000153.4(GALC):c.1912-170C>T	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680309	NM_000153.4(GALC):c.1912-220T>G	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241780	NM_000153.4(GALC):c.1912-221C>T	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234551	NM_000153.4(GALC):c.1912-238T>C	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680307	NM_000153.4(GALC):c.1911+129G>A	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GBenign
Select item 680306	NM_000153.4(GALC):c.1911+122C>G	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GBenign
Select item 555939	NM_000153.4(GALC):c.1896_1900del (p.Thr633fs)	GALC (T610fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 424065	NM_000153.4(GALC):c.1897dup (p.Thr633fs)	GALC (T607fs +2 more)	Duplication (frameshift variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 370392	NM_000153.4(GALC):c.1890T>A (p.Tyr630Ter)	GALC (Y630* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1210861	NM_000153.4(GALC):c.1858G>A (p.Gly620Arg)	GALC (G594R +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1177548	NM_000153.4(GALC):c.1835-79A>G	GALC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1233383	NM_000153.4(GALC):c.1835-204C>G	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1327839	NM_000153.4(GALC):c.1834+23A>T	GALC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 445792	NM_000153.3(GALC):c.1834+22dup	GALC	Duplication (intron variant)	not provided	GBenign/Likely benign
Select item 92499	NM_000153.4(GALC):c.1834+5C>G	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency +2 more	GBenign
Select item 1124724	NM_000153.4(GALC):c.1803A>G (p.Ala601=)	GALC	Single nucleotide variant (synonymous variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 456715	NM_000153.4(GALC):c.1788C>T (p.Phe596=)	GALC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 188969	NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser)	GALC (Y567S +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 92498	NM_000153.4(GALC):c.1698A>T (p.Val566=)	GALC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1249120	NM_000153.4(GALC):c.1686A>T (p.Ile562=)	GALC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 92497	NM_000153.4(GALC):c.1685T>C (p.Ile562Thr)	GALC (I562T +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +2 more	GBenign; other
Select item 92496	NM_000153.4(GALC):c.1671-15C>T	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency +2 more	GBenign
Select item 1262507	NM_000153.4(GALC):c.1671-155T>G	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228228	NM_000153.4(GALC):c.1671-162A>G	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682663	NM_000153.4(GALC):c.1671-319A>G	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680304	NM_000153.4(GALC):c.1670+204T>C	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680303	NM_000153.4(GALC):c.1670+94A>G	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177549	NM_000153.4(GALC):c.1670+60C>T	GALC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 255371	NM_000153.4(GALC):c.1670+19A>T	GALC	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
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 495671	NM_000153.4(GALC):c.1632T>C (p.Asp544=)	GALC	Single nucleotide variant (synonymous variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GBenign/Likely benign
Select item 167119	NM_000153.4(GALC):c.1592G>A (p.Arg531His)	GALC (R531H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1327868	NM_000153.4(GALC):c.1490-205A>G	GALC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680302	NM_000153.4(GALC):c.1490-233C>T	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1327816	NM_000153.4(GALC):c.1490-245C>G	GALC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237528	NM_000153.4(GALC):c.1489+187G>T	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198547	NM_000153.4(GALC):c.1489+134G>A	GALC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1327885	NM_000153.4(GALC):c.1489+133C>T	GALC	Single nucleotide variant (intron variant)	not provided	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 431995	NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn)	GALC (Y490N +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 92495	NM_000153.4(GALC):c.1403C>G (p.Thr468Ser)	GALC (T468S +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 373387	NM_000153.4(GALC):c.1399dup (p.Thr467fs)	GALC (T467fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 92494	NM_000153.4(GALC):c.1350C>T (p.Ser450=)	GALC	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1172738	NM_000153.4(GALC):c.1339-61C>T	GALC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1228601	NM_000153.4(GALC):c.1339-79A>G	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211990	NM_000153.4(GALC):c.1339-221T>A	GALC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273171	NM_000153.4(GALC):c.1338+260G>A	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238876	NM_000153.4(GALC):c.1338+172C>T	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680301	NM_000153.4(GALC):c.1338+159C>T	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 558781	NM_000153.4(GALC):c.1338+23T>C	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255370	NM_000153.4(GALC):c.1302C>T (p.Ser434=)	GALC	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 680300	NM_000153.4(GALC):c.1252-115T>C	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680299	NM_000153.4(GALC):c.1252-166G>A	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177550	NM_000153.4(GALC):c.1251+150C>T	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GBenign
Select item 1329596	NM_000153.4(GALC):c.1251+47A>G	GALC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 456713	NM_000153.4(GALC):c.1236T>A (p.Val412=)	GALC	Single nucleotide variant (synonymous variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GBenign/Likely benign
Select item 456712	NM_000153.4(GALC):c.1186C>T (p.Arg396Trp)	GALC (R396W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 92493	NM_000153.4(GALC):c.1162-4del	GALC	Deletion (intron variant)	not specified +2 more	GBenign
Select item 1327837	NM_000153.4(GALC):c.1162-33A>G	GALC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293668	NM_000153.4(GALC):c.1162-69G>A	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680298	NM_000153.4(GALC):c.1162-152G>A	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680296	NM_000153.4(GALC):c.1162-197T>C	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672031	NM_000153.4(GALC):c.1161+301C>T	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679540	NM_000153.4(GALC):c.1161+248del	GALC	Deletion (intron variant)	not provided	GLikely benign
Select item 1302781	NM_000153.4(GALC):c.1161+240T>G	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1328622	NM_000153.4(GALC):c.1161+66C>T	GALC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 255369	NM_000153.4(GALC):c.1161+38T>C	GALC	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 449484	NM_000153.4(GALC):c.1075_1084del (p.Lys359fs)	GALC (K359fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 314751	NM_000153.4(GALC):c.1072C>T (p.Leu358=)	GALC	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 990191	NM_000153.4(GALC):c.1042A>T (p.Thr348Ser)	GALC (T322S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1188596	NM_000153.4(GALC):c.1034-72dup	GALC	Duplication (intron variant)	not provided	GLikely benign
Select item 1198258	NM_000153.4(GALC):c.1034-62del	GALC	Deletion (intron variant)	not provided	GLikely benign
Select item 681830	NM_000153.4(GALC):c.1034-125G>C	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672030	NM_000153.4(GALC):c.1034-270A>G	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672029	NM_000153.4(GALC):c.1034-314A>G	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681829	NM_000153.4(GALC):c.1033+145A>G	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1327856	NM_000153.4(GALC):c.1033+134G>T	GALC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3368905	NM_000153.4(GALC):c.1033+3A>G	GALC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 450548	NM_000153.4(GALC):c.1031C>G (p.Ser344Ter)	GALC (S344* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 371581	NM_000153.4(GALC):c.1021del (p.Val341fs)	GALC (V318fs +2 more)	Deletion (frameshift variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 314752	NM_000153.4(GALC):c.1006G>A (p.Val336Met)	GALC (V336M +2 more)	Single nucleotide variant (missense variant)	not specified +2 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 92513	NM_000153.4(GALC):c.984G>A (p.Gln328=)	GALC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 265349	NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)	GALC (Y319C +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 188767	NM_000153.4(GALC):c.955del (p.Tyr319fs)	GALC (Y319fs +2 more)	Deletion (frameshift variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 198993	NM_000153.4(GALC):c.913A>G (p.Ile305Val)	GALC (I305V +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1326466	NM_000153.4(GALC):c.909-40A>G	GALC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296064	NM_000153.4(GALC):c.909-193A>G	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682662	NM_000153.4(GALC):c.908+270T>A	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211257	NM_000153.4(GALC):c.908+229G>A	GALC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288422	NM_000153.4(GALC):c.908+122G>A	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 280957	NM_000153.4(GALC):c.908C>T (p.Ser303Phe)	GALC (S303F +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 804343	NM_000153.4(GALC):c.868C>T (p.Arg290Cys)	GALC (R264C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 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)	not provided +1 more	GConflicting classifications of pathogenicity

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