"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 555965	NM_000153.4(GALC):c.1949T>C (p.Leu650Pro)	GALC (L650P +2 more)	Single nucleotide variant (missense variant)	See cases +3 more	GConflicting classifications of pathogenicity
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 976185	NM_000153.4(GALC):c.1185dup (p.Arg396fs)	GALC (R370fs +2 more)	Duplication (frameshift variant)	Galactosylceramide beta-galactosidase deficiency	GLikely 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 92503	NM_000153.4(GALC):c.334A>G (p.Thr112Ala)	GALC (T112A +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 997827	Single allele	FLRT2, GALC	Deletion	Intellectual disability	GPathogenic
Select item 997812	NM_000153.4:c.(1161+1_1162-1)_(*1718_?)del	GALC	Deletion	Intellectual disability	GPathogenic

ClinVar