Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852924
rs137852924
EVC2
0.710 GeneticVariation BEFREE Here, we identified a novel nonsense mutation p.W828X (c.2484G>A) in exon 14 and a recurrent nonsense mutation p. R399X (c.1195C>T) in exon 10 of EVC2 gene in a Chinese boy with EvC. 23026208

2012
dbSNP: rs770918273
rs770918273
EVC2
0.710 GeneticVariation BEFREE Here, we identified a novel nonsense mutation p.W828X (c.2484G>A) in exon 14 and a recurrent nonsense mutation p. R399X (c.1195C>T) in exon 10 of EVC2 gene in a Chinese boy with EvC. 23026208

2012
dbSNP: rs770155116
rs770155116
DYNC2LI1
0.010 GeneticVariation BEFREE Targeted resequencing detected compound heterozygosity for the same missense variant and a truncating change (p.Val141*) in 2 siblings with EvC from a second family, while a newborn with a more severe phenotype carried 2 DYNC2LI1 truncating variants. 28857138

2018
dbSNP: rs1017946059
rs1017946059
EVC
A 0.800 GeneticVariation CLINVAR A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family. 19744229

2010
dbSNP: rs1017946059
rs1017946059
EVC
A 0.800 GeneticVariation CLINVAR Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 23220543

2013
dbSNP: rs137852926
rs137852926
EVC2
C 0.800 CausalMutation CLINVAR

dbSNP: rs137852924
rs137852924
EVC2
A 0.710 CausalMutation CLINVAR Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum. 22190900

2011
dbSNP: rs137852924
rs137852924
EVC2
A 0.710 CausalMutation CLINVAR Ellis-van Creveld syndrome: prenatal diagnosis, molecular analysis and genetic counseling. 21199751

2010
dbSNP: rs770918273
rs770918273
EVC2
T 0.710 GeneticVariation CLINVAR Here, we identified a novel nonsense mutation p.W828X (c.2484G>A) in exon 14 and a recurrent nonsense mutation p. R399X (c.1195C>T) in exon 10 of EVC2 gene in a Chinese boy with EvC. 23026208

2012
dbSNP: rs1007534611
rs1007534611
CRMP1 ; EVC
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1007534611
rs1007534611
CRMP1 ; EVC
T 0.700 CausalMutation CLINVAR

dbSNP: rs1159758018
rs1159758018
EVC2
T 0.700 GeneticVariation CLINVAR Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. 17024374

2007
dbSNP: rs1169539647
rs1169539647
CRMP1 ; EVC
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1214848359
rs1214848359
EVC2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121908424
rs121908424
CRMP1 ; EVC
T 0.700 CausalMutation CLINVAR

dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
T 0.700 CausalMutation CLINVAR Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. 17024374

2007
dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
T 0.700 CausalMutation CLINVAR Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. 10700184

2000
dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
T 0.700 CausalMutation CLINVAR Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 29068549

2018
dbSNP: rs121908426
rs121908426
EVC
C 0.700 GeneticVariation CLINVAR Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. 17024374

2007
dbSNP: rs121908426
rs121908426
EVC
C 0.700 GeneticVariation CLINVAR Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. 10700184

2000
dbSNP: rs121908426
rs121908426
EVC
C 0.700 GeneticVariation CLINVAR Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 23220543

2013
dbSNP: rs121908426
rs121908426
EVC
C 0.700 CausalMutation CLINVAR

dbSNP: rs1221185345
rs1221185345
EVC2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1221185345
rs1221185345
EVC2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1236566474
rs1236566474
EVC2
A 0.700 CausalMutation CLINVAR Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. 17024374

2007