Gene: VCAN-AS1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515437
rs397515437
VCAN ; VCAN-AS1
A 0.700 CausalMutation CLINVAR Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome. 22739342

2013
dbSNP: rs80356553
rs80356553
VCAN ; VCAN-AS1
A 0.700 CausalMutation CLINVAR De novo splice mutation in the versican gene in a family with Wagner syndrome. 23571384

2013
dbSNP: rs80356554
rs80356554
VCAN ; VCAN-AS1
T 0.700 CausalMutation CLINVAR Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases. 23462753

2013
dbSNP: rs80356554
rs80356554
VCAN ; VCAN-AS1
C 0.700 CausalMutation CLINVAR Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome. 22739342

2013
dbSNP: rs864309744
rs864309744
VCAN ; VCAN-AS1
A 0.700 CausalMutation CLINVAR A family with Wagner syndrome with uveitis and a new versican mutation. 24174867

2013
dbSNP: rs80356555
rs80356555
VCAN ; VCAN-AS1
T 0.700 CausalMutation CLINVAR A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features. 21738396

2011
dbSNP: rs80356555
rs80356555
VCAN ; VCAN-AS1
G 0.700 CausalMutation CLINVAR A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features. 21738396

2011
dbSNP: rs80356553
rs80356553
VCAN ; VCAN-AS1
T 0.700 CausalMutation CLINVAR Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome. 19901218

2009
dbSNP: rs80356553
rs80356553
VCAN ; VCAN-AS1
T 0.700 CausalMutation CLINVAR Clinical characterisation and molecular analysis of Wagner syndrome. 17035272

2007
dbSNP: rs80356553
rs80356553
VCAN ; VCAN-AS1
T 0.700 CausalMutation CLINVAR Identification of the genetic defect in the original Wagner syndrome family. 16636652

2006
dbSNP: rs80356554
rs80356554
VCAN ; VCAN-AS1
A 0.700 CausalMutation CLINVAR Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants. 16877430

2006
dbSNP: rs80356556
rs80356556
VCAN ; VCAN-AS1
C 0.700 CausalMutation CLINVAR Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants. 16877430

2006
dbSNP: rs80356556
rs80356556
VCAN ; VCAN-AS1
A 0.700 CausalMutation CLINVAR Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants. 16877430

2006
dbSNP: rs80356555
rs80356555
VCAN ; VCAN-AS1
G 0.700 CausalMutation CLINVAR Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome. 16043844

2005
dbSNP: rs80356553
rs80356553
VCAN ; VCAN-AS1
T 0.700 GeneticVariation CLINVAR