rs111033284
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Phenotypes in defined genotypes including siblings with Usher syndrome.
|
21174530 |
2011 |
rs111033284
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China.
|
21150918 |
2011 |
rs111033284
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.
|
20132242 |
2010 |
rs111033284
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.
|
18181211 |
2008 |
rs111033284
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
MYO7A mutation screening in Usher syndrome type I patients from diverse origins.
|
17361009 |
2007 |
rs111033284
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).
|
15221449 |
2004 |
rs111033284
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.
|
10094549 |
1999 |
rs111033284
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.
|
9171833 |
1997 |
rs111033284
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.
|
9382091 |
1997 |
rs111033284
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene.
|
9354784 |
1997 |
rs111033284
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.
|
8900236 |
1996 |
rs111033284
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene.
|
8776602 |
1996 |
rs111033284
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Defective myosin VIIA gene responsible for Usher syndrome type 1B.
|
7870171 |
1995 |