"Genome-Nilou Lab"[submitter] AND "VCAN"[gene] - ClinVar - NCBI

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

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 259363	NM_004385.5(VCAN):c.348T>C (p.Thr116=)	VCAN	Single nucleotide variant (synonymous variant)	Vitreoretinopathy +3 more	GBenign
Select item 259373	NM_004385.5(VCAN):c.645A>G (p.Val215=)	VCAN	Single nucleotide variant (synonymous variant)	Vitreoretinopathy +3 more	GBenign
Select item 259361	NM_004385.5(VCAN):c.1283G>A (p.Gly428Asp)	VCAN (G428D)	Single nucleotide variant (missense variant +1 more)	Vitreoretinopathy +3 more	GBenign
Select item 198803	NM_004385.5(VCAN):c.4323G>A (p.Gln1441=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 167820	NM_004385.5(VCAN):c.4547A>G (p.Lys1516Arg)	VCAN, VCAN-AS1 (K1516R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 167823	NM_004385.5(VCAN):c.5477G>A (p.Arg1826His)	VCAN, VCAN-AS1 (R1826H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 167824	NM_004385.5(VCAN):c.5808T>C (p.Gly1936=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 198797	NM_004385.5(VCAN):c.6723A>G (p.Arg2241=)	VCAN, VCAN-AS1	Single nucleotide variant (synonymous variant +1 more)	Wagner syndrome +3 more	GBenign
Select item 198798	NM_004385.5(VCAN):c.6902T>A (p.Phe2301Tyr)	VCAN, VCAN-AS1 (F2301Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 198802	NM_004385.5(VCAN):c.8809G>T (p.Asp2937Tyr)	VCAN, VCAN-AS1 (D2937Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 259379	NM_004385.5(VCAN):c.9882C>T (p.Val3294=)	VCAN	Single nucleotide variant (synonymous variant)	Vitreoretinopathy +3 more	GBenign