"GeneDx"[submitter] AND "GALE"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1303817	NM_001008216.2(GALE):c.988+5G>A	GALE	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 92889	NM_001008216.2(GALE):c.873+13G>A	GALE	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1304026	NM_001008216.2(GALE):c.794G>A (p.Arg265Gln)	GALE (R265Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3679	NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)	GALE (K257R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity; other
Select item 92888	NM_001008216.2(GALE):c.709+14C>G	GALE	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 592180	NM_001008216.2(GALE):c.658C>T (p.Arg220Trp)	GALE (R220W)	Single nucleotide variant (missense variant)	UDPglucose-4-epimerase deficiency +2 more	GUncertain significance
Select item 1221442	NM_001008216.2(GALE):c.528+120G>T	GALE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 596687	NM_001008216.2(GALE):c.382G>A (p.Val128Met)	GALE (V128M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1248401	NM_001008216.2(GALE):c.351+110C>T	GALE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244394	NM_001008216.2(GALE):c.238-101C>T	GALE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 984932	NM_001008216.2(GALE):c.151C>T (p.Arg51Trp)	GALE (R51W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1710656	NM_001008216.2(GALE):c.80A>G (p.Tyr27Cys)	GALE (Y27C)	Single nucleotide variant (missense variant)	UDPglucose-4-epimerase deficiency +1 more	GUncertain significance