C0023521[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 858517	NM_000153.4(GALC):c.1898C>T (p.Thr633Met)	GALC (T607M +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GConflicting classifications of pathogenicity
Select item 931172	NM_000153.4(GALC):c.1042A>G (p.Thr348Ala)	GALC (T325A +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 374024	NM_000153.4(GALC):c.850G>A (p.Gly284Ser)	GALC (G284S +2 more)	Single nucleotide variant (missense variant)	Developmental regression +20 more	GPathogenic/Likely pathogenic
Select item 265479	NM_000153.4(GALC):c.749T>C (p.Ile250Thr)	GALC (I250T +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 931961	NM_000153.4(GALC):c.442+1G>A	GALC	Single nucleotide variant (splice donor variant)	Galactosylceramide beta-galactosidase deficiency	GPathogenic
Select item 374023	NM_000153.4(GALC):c.196G>A (p.Ala66Thr)	GALC (A66T +1 more)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency +19 more	GLikely pathogenic

ClinVar