|
rs35887622
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We concluded that p.Met34Thr and p.Val37Ile variants in GJB2 are pathogenic for autosomal recessive nonsyndromic hearing loss with variable expressivity and incomplete penetrance.
|
31160754 |
2019 |
|
rs35887622
|
|
|
0.040 |
GeneticVariation |
BEFREE |
One of the more controversial allele variants, M34T, has been hypothesized to cause autosomal dominant nonsyndromic hearing loss.
|
11216656 |
2000 |
|
rs35887622
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The missense mutation 101T-->C has been reported to be a dominant allele of DFNA3, a dominant nonsyndromic hearing loss.
|
9529365 |
1998 |
|
rs35887622
|
|
|
0.040 |
GeneticVariation |
BEFREE |
To estimate the prevalence of 35delG and Met34Thr variants in a Portuguese children's community sample and to compare these frequencies with nonsyndromic hearing-loss patients.
|
26482070 |
2015 |
|
rs104894396
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Prevalence of the c.35delG and p.W24X mutations in the GJB2 gene in patients with nonsyndromic hearing loss from North-West Romania.
|
20096468 |
2010 |
|
rs104894396
|
|
|
0.020 |
GeneticVariation |
BEFREE |
This study aims to determine the prevalence of GJB2-35delG, GJB2-167delT, GJB2-235delC, GJB2-W24X, del (GJB6-D13S1830), and del (GJB6-D13S1854) mutations in patients with nonsyndromic deafness in the Espirito Santo State, Brazil.
|
20563649 |
2011 |
|
rs121908354
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population.
|
26264712 |
2015 |
|
rs121908354
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The p.P240L variant of CDH23 and the risk of nonsyndromic hearing loss: a meta-analysis.
|
30367262 |
2019 |
|
rs28931593
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss.
|
15996214 |
2005 |
|
rs28931593
|
|
|
0.020 |
GeneticVariation |
BEFREE |
To the best of our knowledge, this is the first report from India on p.R75Q mutation in the GJB2 gene with nonsyndromic hearing loss.
|
25393658 |
2015 |
|
rs72474224
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The c.235delC mutation showed a particularly wide spectrum of hearing loss, from mild to profound and significantly better hearing thresholds at 250 Hz and 2k Hz than in the non-p.V37I and non-235delC nonsyndromic hearing loss and deafness 1(DFNB1) subjects.
|
26061264 |
2015 |
|
rs72474224
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We concluded that p.Met34Thr and p.Val37Ile variants in GJB2 are pathogenic for autosomal recessive nonsyndromic hearing loss with variable expressivity and incomplete penetrance.
|
31160754 |
2019 |
|
rs1064797088
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we present two families with autosomal dominant nonsyndromic hearing loss caused by a novel mutation in GJB2 (p.Asp46Asn).
|
21484990 |
2011 |
|
rs111033260
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Among probands diagnosed with nonsyndromic hearing loss not due to mutations of connexin 26 (GJB2) and/or connexin 30 (GJB6), and below the age of 10, 2 of 20 (10%) were homozygous for the R245X mutation.
|
15028842 |
2004 |
|
rs111033293
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of the study was to determine (1) the frequency and type of mutations in the coding region of the GJB2 gene (sequencing), (2) the frequency of splice site mutation IVS1 + 1G > A in the GJB2 gene (multiplex ligation-dependent probe amplification analysis), (3) possible copy number changes in the GJB2, GJB3, GJB6, and WFS1 genes (multiplex ligation-dependent probe amplification analysis), and (4) the frequency of del(GJB6-D13S1830) in the GJB6 gene in 58 unrelated patients with nonsyndromic hearing loss from Croatia.
|
19814620 |
2009 |
|
rs117685390
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These results suggest that the rs117685390 C allele could represent a biomarker for the development of NSHI in Caucasian populations and may be included in risk assessment for the development of NSHI.
|
23640091 |
2013 |
|
rs1185695012
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, some individuals from the Palestinian family also harbored a novel heterozygous truncating variant (c.1267C>T/p.R423X) in the DFNB31 gene, which is involved in autosomal recessive nonsyndromic deafness type DFNB31 and Usher syndrome type II.
|
24194196 |
2014 |
|
rs121908073
|
|
|
0.010 |
GeneticVariation |
BEFREE |
High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects.
|
20373850 |
2010 |
|
rs121908144
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a BSND mutation (p.I12T) in four kindreds segregating nonsyndromic deafness linked to a 4.04-cM interval on chromosome 1p32.3.
|
19646679 |
2009 |
|
rs121912557
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We established a humanized knock-in mouse model, Myo6-C442Y, to mimic the p.C442Y missense variant identified in human patients with autosomal dominant nonsyndromic hearing loss designated as DFNA22.
|
31103816 |
2019 |
|
rs1244688796
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe three homozygous nonsense mutations of KCNE1 segregating in families ascertained ostensibly for nonsyndromic deafness: c.50G>A (p.Trp17*), c.51G>A (p.Trp17*), and c.138C>A (p.Tyr46*).
|
30461122 |
2019 |
|
rs1283780488
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A homozygous missense mutation ([c.637G>T; p.Val213Phe]) is the underlying cause of nonsyndromic hearing loss (DFNB94) and compound heterozygous mutations ([c.969T>A; p.Tyr323*] + [c.1142A>G; p.Asn381Ser]) result in mitochondrial respiratory chain deficiency and Leigh syndrome, which is a neurodegenerative disease characterized by symmetric, bilateral lesions in the basal ganglia, thalamus, and brain stem.
|
25807530 |
2015 |
|
rs1321703512
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Exome sequencing coupled with homozygosity mapping was used to identify a transition mutation (c.794T>C; p.Leu265Ser) in ELMOD3 at the DFNB88 locus that is associated with nonsyndromic deafness in a large Pakistani family, PKDF468.
|
24039609 |
2013 |
|
rs144446375
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified an R187C mutation in one family, an R187H mutation in two unrelated families, and an H783Y mutation in one sporadic case of nonsyndromic hearing loss.
|
14577002 |
2003 |
|
rs1465957812
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Exome sequencing coupled with homozygosity mapping was used to identify a transition mutation (c.794T>C; p.Leu265Ser) in ELMOD3 at the DFNB88 locus that is associated with nonsyndromic deafness in a large Pakistani family, PKDF468.
|
24039609 |
2013 |