"GeneReviews"[submitter] AND "GALE"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3681	NM_001008216.2(GALE):c.956G>A (p.Gly319Glu)	GALE (G319E)	Single nucleotide variant (missense variant)	UDPglucose-4-epimerase deficiency +1 more	GConflicting classifications of pathogenicity; other
Select item 21173	NM_001008216.2(GALE):c.905G>A (p.Gly302Asp)	GALE (G302D)	Single nucleotide variant (missense variant)	UDPglucose-4-epimerase deficiency	GLikely pathogenic
Select item 3679	NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)	GALE (K257R)	Single nucleotide variant (missense variant)	UDPglucose-4-epimerase deficiency +2 more	GConflicting classifications of pathogenicity; other
Select item 21172	NM_001008216.2(GALE):c.715C>T (p.Arg239Trp)	GALE (R239W)	Single nucleotide variant (missense variant)	UDPglucose-4-epimerase deficiency	GPathogenic/Likely pathogenic
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 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
Select item 984932	NM_001008216.2(GALE):c.151C>T (p.Arg51Trp)	GALE (R51W)	Single nucleotide variant (missense variant)	UDPglucose-4-epimerase deficiency +1 more	GConflicting classifications of pathogenicity

ClinVar