ClinVar for OMIM (Select 606999) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3682	NM_001008216.2(GALE):c.280G>A (p.Val94Met)	GALE (V94M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 3675	NM_001008216.2(GALE):c.548T>C (p.Leu183Pro)	GALE (L183P)	Single nucleotide variant (missense variant)	UDPglucose-4-epimerase deficiency	GPathogenic