C0023521[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585032	NM_000153.4(GALC):c.1717dup (p.Thr573fs)	GALC (T517fs +5 more)	Duplication (frameshift variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 188969	NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser)	GALC (Y567S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 456712	NM_000153.4(GALC):c.1186C>T (p.Arg396Trp)	GALC (R396W +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +2 more	GPathogenic
Select item 265349	NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)	GALC (Y319C +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 280957	NM_000153.4(GALC):c.908C>T (p.Ser303Phe)	GALC (S303F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1878646	NM_000153.4(GALC):c.284dup (p.Leu95fs)	GALC (L69fs +2 more)	Duplication (frameshift variant)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 2671745	NM_000153.4(GALC):c.264+2T>G	GALC	Single nucleotide variant (splice donor variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 2627504	NM_001201402.2(GALC):c.62T>C (p.Ile21Thr)	GALC (I21T)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance