"Clinical Genetics and Genomics, Karolinska University Hospital"[submi - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 988561	NM_000153.4(GALC):c.1934T>G (p.Leu645Arg)	GALC (L619R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely 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 188997	NM_000153.4(GALC):c.1591C>T (p.Arg531Cys)	GALC (R531C +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
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 988509	NM_000153.4(GALC):c.1107C>G (p.Ser369Arg)	GALC (S343R +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 988317	NM_000153.4(GALC):c.1083dup (p.Gly362fs)	GALC (G336fs +2 more)	Duplication (frameshift variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 988267	NM_000153.4(GALC):c.982C>T (p.Gln328Ter)	GALC (Q302* +2 more)	Single nucleotide variant (nonsense)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 988505	NM_000153.4(GALC):c.764C>G (p.Pro255Arg)	GALC (P229R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 211058	NM_000153.4(GALC):c.331G>A (p.Gly111Ser)	GALC (G111S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 988571	NM_000153.4(GALC):c.293dup (p.Leu98fs)	GALC (L72fs +2 more)	Duplication (frameshift variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic