"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "GALC"[gene - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2582925	NM_000153.4(GALC):c.2003C>T (p.Thr668Ile)	GALC (T457I +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 807156	NM_000153.4(GALC):c.1997T>C (p.Ile666Thr)	GALC (I643T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 555965	NM_000153.4(GALC):c.1949T>C (p.Leu650Pro)	GALC (L650P +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1127303	NM_000153.4(GALC):c.1947T>C (p.Ser649=)	GALC	Single nucleotide variant (synonymous variant)	GALC-related disorder +2 more	GLikely benign
Select item 1109198	NM_000153.4(GALC):c.1791C>T (p.Phe597=)	GALC	Single nucleotide variant (synonymous variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GLikely benign
Select item 990182	NM_000153.4(GALC):c.1758T>C (p.Gly586=)	GALC	Single nucleotide variant (synonymous variant)	Galactosylceramide beta-galactosidase deficiency +2 more	GLikely benign
Select item 314745	NM_000153.4(GALC):c.1731C>T (p.Phe577=)	GALC	Single nucleotide variant (synonymous variant)	Galactosylceramide beta-galactosidase deficiency +2 more	GBenign/Likely benign
Select item 990183	NM_000153.4(GALC):c.1709C>A (p.Thr570Asn)	GALC (T544N +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +2 more	GUncertain significance
Select item 1126685	NM_000153.4(GALC):c.1698A>G (p.Val566=)	GALC	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 793521	NM_000153.4(GALC):c.1587G>A (p.Thr529=)	GALC	Single nucleotide variant (synonymous variant)	not provided +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 949256	NM_000153.4(GALC):c.1572C>T (p.Gly524=)	GALC	Single nucleotide variant (synonymous variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GLikely benign
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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2644434	NM_000153.4(GALC):c.1302C>G (p.Ser434=)	GALC	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely 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 1701243	NM_000153.4(GALC):c.1171_1175delinsA (p.His391fs)	GALC (H365fs +2 more)	Indel (frameshift variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic
Select item 444335	NM_000153.4(GALC):c.1158_1161+6del	GALC	Deletion (splice donor variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1081870	NM_000153.4(GALC):c.1131A>G (p.Leu377=)	GALC	Single nucleotide variant (synonymous variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GLikely benign
Select item 314752	NM_000153.4(GALC):c.1006G>A (p.Val336Met)	GALC (V336M +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +3 more	GBenign/Likely benign
Select item 1143688	NM_000153.4(GALC):c.1005C>T (p.Tyr335=)	GALC	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1176333	NM_000153.4(GALC):c.991T>C (p.Trp331Arg)	GALC (W305R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 265349	NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)	GALC (Y319C +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 872578	NM_000153.4(GALC):c.943del (p.Glu315fs)	GALC (E289fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 1013051	NM_000153.4(GALC):c.789A>G (p.Ala263=)	GALC	Single nucleotide variant (synonymous variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GLikely benign
Select item 1335157	NM_000153.4(GALC):c.718G>A (p.Asp240Asn)	GALC (D214N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1161400	NM_000153.4(GALC):c.639G>C (p.Leu213=)	GALC	Single nucleotide variant (synonymous variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GLikely benign
Select item 369724	NM_000153.4(GALC):c.628A>T (p.Arg210Ter)	GALC (R210* +2 more)	Single nucleotide variant (nonsense)	Galactosylceramide beta-galactosidase deficiency +2 more	GPathogenic
Select item 550179	NM_000153.4(GALC):c.621G>A (p.Lys207=)	GALC	Single nucleotide variant (synonymous variant)	Galactosylceramide beta-galactosidase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 496798	NM_000153.4(GALC):c.525C>T (p.Val175=)	GALC	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 872579	NM_000153.4(GALC):c.391T>C (p.Trp131Arg)	GALC (W105R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 314756	NM_000153.4(GALC):c.329-10_329-8del	GALC	Microsatellite (intron variant)	Galactosylceramide beta-galactosidase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 449966	NM_000153.4(GALC):c.266C>T (p.Pro89Leu)	GALC (P89L +2 more)	Single nucleotide variant (missense variant)	See cases +3 more	GConflicting classifications of pathogenicity
Select item 382304	NM_000153.4(GALC):c.60C>T (p.Ala20=)	GALC	Single nucleotide variant (synonymous variant +1 more)	Galactosylceramide beta-galactosidase deficiency +3 more	GLikely benign
Select item 314763	NM_000153.4(GALC):c.41C>G (p.Ala14Gly)	GALC (A14G)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 255372	NM_000153.4(GALC):c.18C>G (p.Leu6=)	GALC	Single nucleotide variant (synonymous variant +1 more)	Galactosylceramide beta-galactosidase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2672565	NM_000153.2(GALC):c.-237G>A	GALC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1298592	NM_000153.2(GALC):c.-285G>A	GALC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 623852	NM_000153.4(GALC):c.-318T>C	GALC	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 374669	NM_000153.4(GALC):c.-327G>T	GALC	Single nucleotide variant (synonymous variant +1 more)	Galactosylceramide beta-galactosidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2582927	GRCh37/hg19 14q31.3(chr14:88401076-88417092)x1	GALC	Copy number loss	not provided	GPathogenic
Select item 2570894	GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1	ASB2, ATXN3 +48 more	Copy number loss	not provided	GPathogenic

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Items: 45