"MGZ Medical Genetics Center"[submitter] AND "GALC"[gene] - ClinVar

	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 provided +3 more	GConflicting classifications of pathogenicity
Select item 225368	NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)	GALC (L634S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 374024	NM_000153.4(GALC):c.850G>A (p.Gly284Ser)	GALC (G284S +2 more)	Single nucleotide variant (missense variant)	not provided +20 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 1421006	NM_000153.4(GALC):c.265-2A>G	GALC	Single nucleotide variant (splice acceptor variant)	Galactosylceramide beta-galactosidase deficiency	GPathogenic/Likely pathogenic
Select item 381334	NM_000153.4(GALC):c.226G>A (p.Glu76Lys)	GALC (E76K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance

ClinVar