Related gene-specific medical variations for Gene (Select 2582) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2687840	NM_001008216.2(GALE):c.793C>T (p.Arg265Trp)	GALE (R265W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2440395	NM_001008216.2(GALE):c.642+1G>A	GALE	Single nucleotide variant (splice donor variant)	UDPglucose-4-epimerase deficiency	GLikely pathogenic
Select item 877011	NM_001008216.2(GALE):c.-77+168T>G	GALE, LOC129929682	Single nucleotide variant (5 prime UTR variant +1 more)	UDPglucose-4-epimerase deficiency	GUncertain significance
Select item 876054	NM_001008216.2(GALE):c.-77+205C>G	GALE, LOC129929682	Single nucleotide variant (5 prime UTR variant +1 more)	UDPglucose-4-epimerase deficiency	GUncertain significance
Select item 296840	NM_001008216.2(GALE):c.-77+241C>G	GALE, LOC129929682	Single nucleotide variant (5 prime UTR variant +1 more)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 296839	NM_001008216.2(GALE):c.-77+311C>T	GALE, HMGCL +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of hydroxymethylglutaryl-CoA lyase +1 more	GLikely benign
Select item 296838	NM_001008216.2(GALE):c.-77+340G>C	GALE, LOC129929682	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GUncertain significance

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