rs150726175
|
|
|
0.720 |
GeneticVariation |
BEFREE |
NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype.
|
29674119 |
2018 |
rs150726175
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants.
|
26018082 |
2015 |
rs150726175
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
The p.Glu257Lys variant was 80-fold less frequent in a homozygous state in patients with Leber congenital amaurosis than predicted based on its heterozygosity frequency in the European American population.
|
24830548 |
2014 |
rs150726175
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The p.Glu257Lys variant was 80-fold less frequent in a homozygous state in patients with Leber congenital amaurosis than predicted based on its heterozygosity frequency in the European American population.
|
24830548 |
2014 |
rs150726175
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
|
22842230 |
2012 |
rs150726175
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.
|
22842231 |
2012 |
rs150726175
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.
|
22842231 |
2012 |
rs150726175
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
NMNAT1 mutations cause Leber congenital amaurosis.
|
22842227 |
2012 |
rs150726175
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
|
22842229 |
2012 |
rs61750168
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs61750168
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Three of the 5 patients harbor the Arg768Trp mutation reported in GUCY2D-associated Leber congenital amaurosis.
|
29559409 |
2018 |
rs62636275
|
|
|
0.710 |
GeneticVariation |
BEFREE |
A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.
|
16543197 |
2006 |
rs62636275
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs121908449
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs137853124
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs386834152
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs397515360
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs62637014
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs62638214
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs62645752
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs754768875
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs758593134
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs781781440
|
|
CA |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs869312175
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
|
26872967 |
2016 |
rs866395428
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
|
25412400 |
2015 |