"Myelin Disorders Clinic-Children's Medical Center/Medical Genetics La - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 870534	NM_000153.4(GALC):c.1942A>T (p.Lys648Ter)	GALC (K648* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 981048	NM_000153.4(GALC):c.1213_1214insTA (p.Ser405fs)	GALC (S379fs +2 more)	Insertion (frameshift variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 804343	NM_000153.4(GALC):c.868C>T (p.Arg290Cys)	GALC (R264C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 873006	NM_000153.4(GALC):c.830G>A (p.Ser277Asn)	GALC (S251N +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 575192	NM_000153.4(GALC):c.787G>A (p.Ala263Thr)	GALC (A263T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 432945	NM_000153.4(GALC):c.328+3A>G	GALC	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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