"Revvity Omics, Revvity"[submitter] AND "GALE"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2440395	NM_001008216.2(GALE):c.642+1G>A	GALE	Single nucleotide variant (splice donor variant)	UDPglucose-4-epimerase deficiency	GLikely pathogenic