"Fulgent Genetics, Fulgent Genetics"[submitter] AND "GALC"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 370073	NM_000153.4(GALC):c.1586C>T (p.Thr529Met)	GALC (T529M +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1349449	NM_000153.4(GALC):c.1577A>G (p.His526Arg)	GALC (H526R +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
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 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 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 885479	NM_000153.4(GALC):c.1114G>T (p.Ala372Ser)	GALC (A346S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 30620	NM_000153.4(GALC):c.953C>G (p.Pro318Arg)	GALC (P318R +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GPathogenic/Likely pathogenic
Select item 549982	NM_000153.4(GALC):c.927A>C (p.Leu309Phe)	GALC (L309F +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 758984	NM_000153.4(GALC):c.909-4T>G	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
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 550154	NM_000153.4(GALC):c.621+1G>A	GALC	Single nucleotide variant (splice donor variant)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 551773	NM_000153.4(GALC):c.582+5G>A	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 972207	NM_000153.4(GALC):c.581G>C (p.Gly194Ala)	GALC (G194A +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 552100	NM_000153.4(GALC):c.521del (p.Tyr174fs)	GALC (Y148fs +2 more)	Deletion (frameshift variant)	Galactosylceramide beta-galactosidase deficiency	GPathogenic/Likely pathogenic
Select item 498178	NM_000153.4(GALC):c.500A>G (p.Asn167Ser)	GALC (N167S +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +2 more	GUncertain significance
Select item 642301	NM_000153.4(GALC):c.453G>A (p.Trp151Ter)	GALC (W125* +2 more)	Single nucleotide variant (nonsense)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 887746	NM_000153.4(GALC):c.442+4A>G	GALC	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 255376	NM_000153.4(GALC):c.397T>C (p.Leu133=)	GALC	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 provided +2 more	GUncertain significance
Select item 255373	NM_000153.4(GALC):c.195+19G>A	GALC, LOC130056217	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 314760	NM_000153.4(GALC):c.96G>T (p.Leu32=)	GALC	Single nucleotide variant (synonymous variant +1 more)	not specified +2 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

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Items: 27