|
rs104893769
|
|
Retinitis Pigmentosa
|
T |
0.750 |
CausalMutation
|
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
rs80338902
|
|
Retinitis Pigmentosa
|
A |
0.750 |
CausalMutation
|
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
rs80338902
|
|
Retinitis Pigmentosa
|
A |
0.750 |
GeneticVariation
|
CLINVAR |
Here, we report Cys759Phe, a novel missense mutation in this gene that changes an amino-acid residue within the fifth laminin-epidermal growth factor-like domain of the USH2A gene and that is associated with recessive RP without hearing loss.
|
10775529 |
2000 |
|
rs147394623
|
|
Retinitis Pigmentosa
|
G |
0.740 |
CausalMutation
|
CLINVAR |
Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.
|
29276052 |
2018 |
|
rs147394623
|
|
Retinitis Pigmentosa
|
G |
0.740 |
CausalMutation
|
CLINVAR |
We screened 275 North American patients with recessive/isolate retinitis pigmentosa for two mutations: an Alu insertion in the MAK gene and the p.Lys42Glu missense in the DHDDS gene.
|
25255364 |
2015 |
|
rs147394623
|
|
Retinitis Pigmentosa
|
G |
0.740 |
CausalMutation
|
CLINVAR |
Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.
|
26261414 |
2015 |
|
rs147394623
|
|
Retinitis Pigmentosa
|
G |
0.740 |
CausalMutation
|
CLINVAR |
We observed a characteristic shortening of plasma and urinary dolichols in retinitis pigmentosa (RP) patients carrying K42E and T206A mutations in the dehydrodolichol diphosphate synthase (DHDDS) gene, using liquid chromatography-mass spectrometry.
|
24078709 |
2013 |
|
rs147394623
|
|
Retinitis Pigmentosa
|
G |
0.740 |
CausalMutation
|
CLINVAR |
Clinical manifestations of patients who are homozygous for the c.124A>G mutation were within the spectrum associated with arRP.
|
21295282 |
2011 |
|
rs147394623
|
|
Retinitis Pigmentosa
|
G |
0.740 |
CausalMutation
|
CLINVAR |
Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa.
|
21295283 |
2011 |
|
rs29001566
|
|
Retinitis Pigmentosa
|
T |
0.740 |
GeneticVariation
|
CLINVAR |
Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.
|
2215617 |
1990 |
|
rs29001566
|
|
Retinitis Pigmentosa
|
G |
0.740 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs104893775
|
|
Retinitis Pigmentosa
|
T |
0.730 |
CausalMutation
|
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
rs121909398
|
|
Retinitis Pigmentosa
|
A |
0.730 |
GeneticVariation
|
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
rs121909398
|
|
Retinitis Pigmentosa
|
A |
0.730 |
CausalMutation
|
CLINVAR |
The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.
|
25999674 |
2015 |
|
rs121909398
|
|
Retinitis Pigmentosa
|
A |
0.730 |
CausalMutation
|
CLINVAR |
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.
|
24043777 |
2013 |
|
rs121909398
|
|
Retinitis Pigmentosa
|
A |
0.730 |
CausalMutation
|
CLINVAR |
Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.
|
22164218 |
2011 |
|
rs121909398
|
|
Retinitis Pigmentosa
|
A |
0.730 |
CausalMutation
|
CLINVAR |
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.
|
21151602 |
2010 |
|
rs121909398
|
|
Retinitis Pigmentosa
|
A |
0.730 |
CausalMutation
|
CLINVAR |
Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).
|
14681825 |
2004 |
|
rs775557680
|
|
Retinitis Pigmentosa
|
A |
0.730 |
CausalMutation
|
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
rs775557680
|
|
Retinitis Pigmentosa
|
A |
0.730 |
GeneticVariation
|
CLINVAR |
Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.
|
1833777 |
1991 |
|
rs104893773
|
|
Retinitis Pigmentosa
|
A |
0.720 |
CausalMutation
|
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
rs104893779
|
|
Retinitis Pigmentosa
|
T |
0.720 |
GeneticVariation
|
CLINVAR |
Rhodopsin mutations in autosomal dominant retinitis pigmentosa.
|
8401533 |
1993 |
|
rs121912631
|
|
Retinitis Pigmentosa
|
A |
0.720 |
CausalMutation
|
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
rs267607077
|
|
Retinitis Pigmentosa
|
A |
0.720 |
GeneticVariation
|
CLINVAR |
The c.3260C>T substitution showed complete cosegregation with the retinitis pigmentosa (RP) phenotype over four generations, but was absent in a panel of 400 controls.
|
19878916 |
2009 |
|
rs104893772
|
|
Retinitis Pigmentosa
|
A |
0.710 |
GeneticVariation
|
CLINVAR |
|
|
|