rs1017946059
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs137852926
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A new gene, EVC2, is mutated in Ellis-van Creveld syndrome.
|
12468274 |
2002 |
rs137852926
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.
|
12571802 |
2003 |
rs137852924
|
|
|
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 |
rs770918273
|
|
|
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 |
rs1373632260
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs137852928
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A new gene, EVC2, is mutated in Ellis-van Creveld syndrome.
|
12468274 |
2002 |
rs137852928
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.
|
12571802 |
2003 |
rs35953626
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
|
10700184 |
2000 |
rs35953626
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.
|
18947413 |
2008 |
rs35953626
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family.
|
19744229 |
2010 |
rs770155116
|
|
|
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 |
rs1017946059
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family.
|
19744229 |
2010 |
rs1017946059
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.
|
23220543 |
2013 |
rs137852924
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum.
|
22190900 |
2011 |
rs137852924
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Ellis-van Creveld syndrome: prenatal diagnosis, molecular analysis and genetic counseling.
|
21199751 |
2010 |
rs1169539647
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1214848359
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1236566474
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.
|
17024374 |
2007 |
rs1236566474
|
|
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 |
rs1262933856
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.
|
23220543 |
2013 |
rs1305301849
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1363547577
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs137852925
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs137852927
|
|
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 |