|
rs80358192
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Distinct Clinical Phenotype of Corneal Dystrophy Predicts the p.(Leu450Trp) Substitution in COL8A2.
|
26989952 |
2016 |
|
rs1483153444
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Finally, molecular analysis of CHST6 in a patient with macular CD disclosed the presence of a homozygous p.Y110C change.
|
24801599 |
2014 |
|
rs2292245
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the present study, we screened several reported SNPs (rs2286812, rs17595731 and rs613827 in TCF4; rs7640737 and rs2292245 in PTPRG) in FED and non-Fuchs' patients with corneal dystrophies of southern Chinese.
|
23758498 |
2014 |
|
rs72547544
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Finally, molecular analysis of CHST6 in a patient with macular CD disclosed the presence of a homozygous p.Y110C change.
|
24801599 |
2014 |
|
rs747805751
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Seven lattice CD patients from four unrelated families had an identical p.H626R mutation in TGFBI, three patients from a single lattice CD family carried a p.R124C substitution in TGFBI, and a granular type 2 CD pedigree was demonstrated to carry a heterozygous TGFBI p.M619K substitution.
|
24801599 |
2014 |
|
rs7640737
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the present study, we screened several reported SNPs (rs2286812, rs17595731 and rs613827 in TCF4; rs7640737 and rs2292245 in PTPRG) in FED and non-Fuchs' patients with corneal dystrophies of southern Chinese.
|
23758498 |
2014 |
|
rs371811409
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Newly reported p.Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy.
|
20489584 |
2010 |
|
rs201928238
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The clinical manifestations of the two cases with both R124H and N544S mutations appeared to be a summation of Avellino and lattice corneal dystrophies.
|
19461933 |
2009 |
|
rs709932
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The clinical manifestations of the two cases with both R124H and N544S mutations appeared to be a summation of Avellino and lattice corneal dystrophies.
|
19461933 |
2009 |
|
rs756283153
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The clinical manifestations of the two cases with both R124H and N544S mutations appeared to be a summation of Avellino and lattice corneal dystrophies.
|
19461933 |
2009 |
|
rs763075517
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A phenotypically unusual variant of MCDC1 was found to be associated with the novel Leu173Pro mutation in CHST6, transmitted via uniparental isodisomy, a previously unreported pattern of inheritance in the corneal dystrophies.
|
17896316 |
2007 |
|
rs757933370
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: Identification of a novel and unusual mutation (Val113Ile) in a family with granular dystrophy.
|
16636649 |
2006 |
|
rs1411887514
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Diagnoses included Thiel-Benhke CD (TBCD/R555Q) (13 eyes), classic granular CD (CGCD/R555W) (28 eyes), superficial variant of granular dystrophy (SVGD/R124 l) (27 eyes), lattice CD type I (LCDI/R124C) (20 eyes), Avellino CD (ACD/R124H) (2 eyes), H626R-lattice dystrophy (LCD/H626R) (6 eyes), and two novel dystrophies: a French variant of granular dystrophy (FVGD/R124 l+DT125-DE126) (9 eyes) and a French lattice CD type IIIA (LCDIIIA/A546T) (5 eyes).
|
11927442 |
2002 |
|
rs760714959
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Identification of the c.3156C>T mutation, previously identified in 5 of these 6 families, in the Thai family we report indicates conservation of the genetic basis of ERED across different races and underscores the importance of ophthalmologists around the globe being familiar with ERED, which has only recently become a recognized corneal dystrophy.
|
29708937 |
2018 |
|
rs760714959
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The corneal dystrophy mapped to chromosome 10q23-q24 is associated with the c.3156C>T variant in COL17A1.
|
27309958 |
2016 |
|
rs1052006472
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Five mutations of TGFBI were identified in 21 families with CDs, including one novel small deletion mutation, c.delta1838-1849 (p.Delta613-616VAEP), responsible for one variant lattice CD (LCD) family and 4 known mutations, R555W mutation for 10 granular cornea dystrophy type I (GCD1) families, R124H for 5 GCD type II (GCD2), R124C for 4 LCD1, and H626R for one variant LCD.
|
20664689 |
2010 |
|
rs121909215
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A corneal dystrophy associated with transforming growth factor beta-induced Gly623Asp mutation an amyloidogenic phenotype.
|
19019446 |
2009 |
|
rs121909215
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The presence of clinical features considered atypical for a TGFBI-associated dystrophy in this pedigree, as well as the wide range of phenotypic expressions of the Gly623Asp mutation in affected members, underscore the clinical utility of molecular genetic analysis in the diagnosis of suspected corneal dystrophies.
|
15885785 |
2005 |
|
rs1052006472
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Diagnoses included Thiel-Benhke CD (TBCD/R555Q) (13 eyes), classic granular CD (CGCD/R555W) (28 eyes), superficial variant of granular dystrophy (SVGD/R124 l) (27 eyes), lattice CD type I (LCDI/R124C) (20 eyes), Avellino CD (ACD/R124H) (2 eyes), H626R-lattice dystrophy (LCD/H626R) (6 eyes), and two novel dystrophies: a French variant of granular dystrophy (FVGD/R124 l+DT125-DE126) (9 eyes) and a French lattice CD type IIIA (LCDIIIA/A546T) (5 eyes).
|
11927442 |
2002 |
|
rs121909209
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The R555Q mutation occurred spontaneously and independently in the 2 unrelated CDB families and was confirmed to be transmitted to the next generation in 1 of the 2 families.
|
17980739 |
2007 |
|
rs121909209
|
|
|
0.040 |
GeneticVariation |
BEFREE |
In our study, 5 previously reported mutations of the TGFBI gene - R124C, R124H, R124L (exon 4), R555W, R555Q (exon 12) - were analyzed using polymerase chain reaction followed by restriction digestion in 48 individuals from 19 unrelated families with different forms of corneal dystrophy from different regions of Ukraine.
|
15564760 |
2005 |
|
rs121909209
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Diagnoses included Thiel-Benhke CD (TBCD/R555Q) (13 eyes), classic granular CD (CGCD/R555W) (28 eyes), superficial variant of granular dystrophy (SVGD/R124 l) (27 eyes), lattice CD type I (LCDI/R124C) (20 eyes), Avellino CD (ACD/R124H) (2 eyes), H626R-lattice dystrophy (LCD/H626R) (6 eyes), and two novel dystrophies: a French variant of granular dystrophy (FVGD/R124 l+DT125-DE126) (9 eyes) and a French lattice CD type IIIA (LCDIIIA/A546T) (5 eyes).
|
11927442 |
2002 |
|
rs121909209
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Records of patients carrying this mutation were compared with those from three unrelated patients with corneal dystrophy of Bowman's layer (CDB) type 2 (R555Q mutation) and from three unrelated patients with classic corneal granular dystrophy (R555W mutation).
|
10889112 |
2000 |
|
rs121909210
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Granular type I corneal dystrophy in a large consanguineous Tunisian family with homozygous p.R124S mutation in the <i>TGFBI</i> gene.
|
31322463 |
2019 |
|
rs121909208
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The p. Arg555Trp mutation of the TGFBI gene was associated with TBCD, which revealed a novel phenotype-genotype correlation within the mutational spectrum of phenotypically diverse corneal dystrophies.
|
26464103 |
2015 |