rs121918284
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
A |
0.820 |
CausalMutation
|
CLINVAR |
|
|
|
rs200277476
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.810 |
GeneticVariation
|
UNIPROT |
|
|
|
rs121918287
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
A |
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
rs121918288
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
C |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs368387447
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.710 |
GeneticVariation
|
UNIPROT |
|
|
|
rs121918286
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
T |
0.710 |
CausalMutation
|
CLINVAR |
|
|
|
rs775283269
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs753614067
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs281865238
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs281865225
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs267606678
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
rs1565392261
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1554964287
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1554963305
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1431752515
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1417478879
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
rs267606680
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.010 |
GeneticVariation
|
BEFREE |
A clinical picture similar to autosomal recessive bestrophinopathy can also be caused by a single heterozygous mutation in the BEST1 gene, such as the c.614T>C (p.I205T) variant in this family.
|
26716959 |
2016 |
rs121918284
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.
|
26720466 |
2015 |
rs200277476
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.
|
26720466 |
2015 |
rs121918287
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.
|
26720466 |
2015 |
rs121918288
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.
|
26720466 |
2015 |
rs765998048
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.710 |
GeneticVariation
|
UNIPROT |
A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.
|
26720466 |
2015 |
rs281865277
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
|
0.710 |
GeneticVariation
|
UNIPROT |
A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.
|
26720466 |
2015 |
rs199529046
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
C |
0.710 |
GeneticVariation
|
CLINVAR |
A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy.
|
22422030 |
2012 |
rs199529046
|
|
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
|
C |
0.710 |
GeneticVariation
|
CLINVAR |
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration.
|
10798642 |
2000 |