"Fulgent Genetics, Fulgent Genetics"[submitter] AND "GALE"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 861930	NM_001008216.2(GALE):c.878C>T (p.Pro293Leu)	GALE (P293L)	Single nucleotide variant (missense variant)	UDPglucose-4-epimerase deficiency +1 more	GUncertain significance
Select item 281922	NM_001008216.2(GALE):c.796-1G>T	GALE	Single nucleotide variant (splice acceptor variant)	UDPglucose-4-epimerase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 664655	NM_001008216.2(GALE):c.749del (p.Gly250fs)	GALE (G250fs)	Deletion (frameshift variant)	UDPglucose-4-epimerase deficiency	GPathogenic/Likely pathogenic
Select item 296832	NM_001008216.2(GALE):c.506G>A (p.Arg169Gln)	GALE (R169Q)	Single nucleotide variant (missense variant)	UDPglucose-4-epimerase deficiency	GUncertain significance
Select item 21171	NM_001008216.2(GALE):c.505C>T (p.Arg169Trp)	GALE (R169W)	Single nucleotide variant (missense variant)	UDPglucose-4-epimerase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 572886	NM_001008216.2(GALE):c.307G>T (p.Asp103Tyr)	GALE (D103Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3682	NM_001008216.2(GALE):c.280G>A (p.Val94Met)	GALE (V94M)	Single nucleotide variant (missense variant)	UDPglucose-4-epimerase deficiency +2 more	GPathogenic/Likely pathogenic

ClinVar