Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs137852927
rs137852927
EVC2
A 0.700 CausalMutation 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: rs200300612
rs200300612
EVC2
G 0.700 GeneticVariation CLINVAR Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 23220543

2013
dbSNP: rs200300612
rs200300612
EVC2
G 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: rs767072839
rs767072839
EVC2
A 0.700 CausalMutation 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: rs73198165
rs73198165
EVC2
A 0.700 CausalMutation CLINVAR Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings. 22406498

2012
dbSNP: rs146538906
rs146538906
EVC2
A 0.700 CausalMutation CLINVAR Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family. 21815252

2011
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: rs35953626
rs35953626
CRMP1 ; EVC
0.700 GeneticVariation UNIPROT A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family. 19744229

2010
dbSNP: rs755789146
rs755789146
EVC2
C 0.700 GeneticVariation CLINVAR Ellis-van Creveld syndrome: prenatal diagnosis, molecular analysis and genetic counseling. 21199751

2010
dbSNP: rs1236566474
rs1236566474
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: rs137852927
rs137852927
EVC2
A 0.700 CausalMutation CLINVAR Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. 19876929

2009
dbSNP: rs1553815019
rs1553815019
EVC2
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: 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: rs200300612
rs200300612
EVC2
G 0.700 GeneticVariation CLINVAR Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease. 19251731

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: rs548681312
rs548681312
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: rs73198165
rs73198165
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: 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