C0023521[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 554777	NM_000153.4(GALC):c.1901del (p.Thr633_Leu634insTer)	GALC	Deletion (nonsense)	Galactosylceramide beta-galactosidase deficiency	GPathogenic/Likely pathogenic
Select item 30615	NM_000153.4(GALC):c.1796T>G (p.Ile599Ser)	GALC (I599S +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GPathogenic
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 30614	NM_000153.4(GALC):c.1630G>A (p.Asp544Asn)	GALC (D544N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 30617	NM_000153.4(GALC):c.1489+1G>A	GALC	Single nucleotide variant (splice donor variant)	Galactosylceramide beta-galactosidase deficiency	GPathogenic
Select item 3818	NM_000153.4(GALC):c.1153G>T (p.Glu385Ter)	GALC (E385* +2 more)	Single nucleotide variant (nonsense)	Galactosylceramide beta-galactosidase deficiency	GPathogenic
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 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 30621	NM_000153.4(GALC):c.121G>A (p.Gly41Ser)	GALC (G41S)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GPathogenic
Select item 3819	NC_000014.9:g.87925163_87956828del	GALC	Deletion	Galactosylceramide beta-galactosidase deficiency	GPathogenic