"Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1332807	NM_000153.4(GALC):c.1781G>T (p.Gly594Val)	GALC (G568V +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 1339935	NM_000153.4(GALC):c.1400C>A (p.Thr467Asn)	GALC (T441N +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 996548	NM_000153.4(GALC):c.1339-1G>T	GALC	Single nucleotide variant (splice acceptor variant)	Galactosylceramide beta-galactosidase deficiency	GPathogenic
Select item 1703038	NM_000153.4(GALC):c.1338+16A>G	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 1332732	NM_000153.4(GALC):c.1252-1G>C	GALC	Single nucleotide variant (splice acceptor variant)	Galactosylceramide beta-galactosidase deficiency	GPathogenic
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 1299585	NM_000153.4(GALC):c.396G>A (p.Trp132Ter)	GALC (W106* +2 more)	Single nucleotide variant (nonsense)	Galactosylceramide beta-galactosidase deficiency	GPathogenic
Select item 1677293	NM_000153.4(GALC):c.193G>T (p.Gly65Trp)	GALC, LOC130056217 (G65W)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic