"Counsyl"[submitter] AND "LOC130056217"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 314759	NM_000153.4(GALC):c.195+15G>A	LOC130056217, GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GConflicting classifications of pathogenicity
Select item 371332	NM_000153.4(GALC):c.190_195+9del	GALC, LOC130056217	Deletion (intron variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 554787	NM_000153.4(GALC):c.195+1G>C	GALC, LOC130056217	Single nucleotide variant (intron variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 432166	NM_000153.4(GALC):c.195+1G>A	GALC, LOC130056217	Single nucleotide variant (intron variant +1 more)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 280959	NM_000153.4(GALC):c.195G>C (p.Gly65=)	GALC, LOC130056217	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 551142	NM_000153.4(GALC):c.179C>T (p.Ala60Val)	GALC, LOC130056217 (A60V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 557770	NM_000153.4(GALC):c.157C>T (p.Arg53Trp)	GALC, LOC130056217 (R53W)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 418220	NM_000153.4(GALC):c.155del (p.Gly52fs)	GALC, LOC130056217 (G52fs)	Deletion (frameshift variant +1 more)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 556317	NM_000153.4(GALC):c.141_143delinsG (p.Asp47fs)	GALC, LOC130056217 (D47fs)	Indel (frameshift variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 557283	NM_000153.4(GALC):c.129C>A (p.Tyr43Ter)	GALC, LOC130056217 (Y43*)	Single nucleotide variant (nonsense +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 370855	NM_000153.4(GALC):c.129C>G (p.Tyr43Ter)	GALC, LOC130056217 (Y43*)	Single nucleotide variant (nonsense +1 more)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic