Gene: EVC ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs121908425
rs121908425
CRMP1 ; EVC
T 0.700 CausalMutation CLINVAR Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 29068549

2018
dbSNP: rs1424976594
rs1424976594
CRMP1 ; EVC
G 0.700 GeneticVariation CLINVAR Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes. 29321360

2017
dbSNP: rs1553857801
rs1553857801
EVC ; EVC2
A 0.700 CausalMutation CLINVAR Wide-spread cone-shaped epiphyses in two Saudi siblings with Ellis-van Creveld syndrome. 28854412

2017
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: rs1262933856
rs1262933856
CRMP1 ; EVC
A 0.700 GeneticVariation CLINVAR Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 23220543

2013
dbSNP: rs1424976594
rs1424976594
CRMP1 ; EVC
G 0.700 GeneticVariation CLINVAR Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 23220543

2013
dbSNP: rs1553871792
rs1553871792
EVC
TA 0.700 GeneticVariation CLINVAR Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 23220543

2013
dbSNP: rs1553873969
rs1553873969
CRMP1 ; EVC
GCAGC 0.700 CausalMutation CLINVAR Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 23220543

2013
dbSNP: rs753014919
rs753014919
CRMP1 ; EVC
G 0.700 CausalMutation CLINVAR Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 23220543

2013
dbSNP: rs760607210
rs760607210
CRMP1 ; EVC
A 0.700 GeneticVariation CLINVAR Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 23220543

2013
dbSNP: rs794726665
rs794726665
CRMP1 ; EVC
T 0.700 CausalMutation CLINVAR Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 23220543

2013
dbSNP: rs1553889992
rs1553889992
CRMP1 ; EVC
T 0.700 CausalMutation CLINVAR Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates. 20184732

2010
dbSNP: rs1553857801
rs1553857801
EVC ; EVC2
A 0.700 CausalMutation CLINVAR Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. 19810119

2009
dbSNP: rs527255616
rs527255616
EVC
CT 0.700 CausalMutation CLINVAR Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. 19810119

2009
dbSNP: rs748523193
rs748523193
EVC
A 0.700 GeneticVariation CLINVAR Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. 19810119

2009
dbSNP: rs764397417
rs764397417
CRMP1 ; EVC
T 0.700 GeneticVariation CLINVAR Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. 19810119

2009
dbSNP: rs779915989
rs779915989
CRMP1 ; EVC
T 0.700 GeneticVariation CLINVAR Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. 19810119

2009
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: 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: rs1553889992
rs1553889992
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: rs527255616
rs527255616
EVC
CT 0.700 CausalMutation CLINVAR Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. 17024374

2007
dbSNP: rs753014919
rs753014919
CRMP1 ; EVC
G 0.700 CausalMutation CLINVAR Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. 17024374

2007
dbSNP: rs794726665
rs794726665
CRMP1 ; EVC
T 0.700 CausalMutation CLINVAR Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. 17024374

2007