"GeneReviews"[submitter] AND "VCAN-AS1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 219012	NM_004385.5(VCAN):c.4004-6T>A	VCAN, VCAN-AS1	Single nucleotide variant (intron variant)	Wagner syndrome	Gnot provided
Select item 21407	NM_004385.5(VCAN):c.4004-5T>C	VCAN, VCAN-AS1	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 21406	NM_004385.5(VCAN):c.4004-5T>A	VCAN, VCAN-AS1	Single nucleotide variant (intron variant)	Wagner syndrome	GPathogenic
Select item 41877	NM_004385.5(VCAN):c.4004-2A>T	VCAN, VCAN-AS1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GPathogenic
Select item 17494	NM_004385.5(VCAN):c.4004-2A>G	VCAN, VCAN-AS1	Single nucleotide variant (splice acceptor variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 219011	NM_004385.5(VCAN):c.4004-1G>T	VCAN, VCAN-AS1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GPathogenic
Select item 41879	NM_004385.5(VCAN):c.4004-1G>C	VCAN, VCAN-AS1	Single nucleotide variant (splice acceptor variant +1 more)	Wagner syndrome	GPathogenic
Select item 21405	NM_004385.5(VCAN):c.4004-1G>A	VCAN, VCAN-AS1	Single nucleotide variant (splice acceptor variant +1 more)	Wagner syndrome	GPathogenic
Select item 219010	NM_004385.5(VCAN):c.9265+1G>T	VCAN, VCAN-AS1	Single nucleotide variant (splice donor variant +1 more)	Wagner syndrome	GLikely pathogenic
Select item 21408	NM_004385.5(VCAN):c.9265+1G>A	VCAN, VCAN-AS1	Single nucleotide variant (splice donor variant +1 more)	not provided	GPathogenic
Select item 41878	NM_004385.5(VCAN):c.9265+2T>A	VCAN, VCAN-AS1	Single nucleotide variant (splice donor variant +1 more)	Wagner syndrome	GPathogenic