|
Autosomal recessive retinitis pigmentosa
|
|
0.010 |
GeneticVariation
|
BEFREE |
The p.E257K alteration was also found in a heterozygous state in five individuals with LCA and one with RP while no mutation was detected on the other allele.
|
24940029 |
2014 |
|
Amaurosis congenita of Leber, type 1
|
|
0.010 |
GeneticVariation
|
BEFREE |
The enrichment of p.E257K in a heterozygous state in patients with LCA versus controls suggests that this allele could act as a modifier in other genetic subtypes of LCA.
|
24940029 |
2014 |
|
Severe visual impairment
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Global developmental delay
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Diarrhea
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Gastrointestinal dysmotility
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Nystagmus
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Retinal Dystrophies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Developmental regression
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Leber Congenital Amaurosis
|
|
0.720 |
GeneticVariation
|
BEFREE |
NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype.
|
29674119 |
2018 |
|
Leber Congenital Amaurosis
|
|
0.720 |
CausalMutation
|
CLINVAR |
Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants.
|
26018082 |
2015 |
|
Leber Congenital Amaurosis
|
|
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 |
|
Leber Congenital Amaurosis
|
|
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 |
|
Leber Congenital Amaurosis
|
|
0.720 |
CausalMutation
|
CLINVAR |
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
|
22842230 |
2012 |
|
Leber Congenital Amaurosis
|
|
0.720 |
CausalMutation
|
CLINVAR |
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.
|
22842231 |
2012 |
|
Leber Congenital Amaurosis
|
|
0.720 |
GeneticVariation
|
CLINVAR |
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.
|
22842231 |
2012 |
|
Leber Congenital Amaurosis
|
|
0.720 |
CausalMutation
|
CLINVAR |
NMNAT1 mutations cause Leber congenital amaurosis.
|
22842227 |
2012 |
|
Leber Congenital Amaurosis
|
|
0.720 |
CausalMutation
|
CLINVAR |
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
|
22842229 |
2012 |
|
LEBER CONGENITAL AMAUROSIS 9 (disorder)
|
|
0.810 |
GeneticVariation
|
BEFREE |
NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype.
|
29674119 |
2018 |
|
LEBER CONGENITAL AMAUROSIS 9 (disorder)
|
|
0.810 |
CausalMutation
|
CLINVAR |
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.
|
27032803 |
2016 |
|
LEBER CONGENITAL AMAUROSIS 9 (disorder)
|
|
0.810 |
CausalMutation
|
CLINVAR |
Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants.
|
26018082 |
2015 |
|
LEBER CONGENITAL AMAUROSIS 9 (disorder)
|
|
0.810 |
CausalMutation
|
CLINVAR |
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.
|
26103963 |
2015 |
|
LEBER CONGENITAL AMAUROSIS 9 (disorder)
|
|
0.810 |
CausalMutation
|
CLINVAR |
Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.
|
24940029 |
2014 |
|
LEBER CONGENITAL AMAUROSIS 9 (disorder)
|
|
0.810 |
CausalMutation
|
CLINVAR |
Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1.
|
24830548 |
2014 |
|
LEBER CONGENITAL AMAUROSIS 9 (disorder)
|
|
0.810 |
CausalMutation
|
CLINVAR |
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.
|
24625443 |
2014 |