|
rs113624356
|
|
|
0.750 |
GeneticVariation |
BEFREE |
As exemplified in this study by the identification of a homozygous p.M390R variant in a control individual and in unaffected parents of BBS patients in other studies, cis - or trans -acting modifiers may influence the disease phenotype.
|
23143442 |
2012 |
|
rs113624356
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene.
|
22940089 |
2012 |
|
rs113624356
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C.
|
30142598 |
2018 |
|
rs113624356
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Furthermore, we show that BBS1 with the M390R mutation, responsible for 30% of all reported BBS disease cases, fails to interact with ARL6-GTP, thus providing a molecular rationale for patient pathologies.
|
25402481 |
2014 |
|
rs113624356
|
|
|
0.750 |
GeneticVariation |
BEFREE |
We document a female affected with BBS carrying the most common BBS1 mutation (BBS1: Met390Arg) on the maternal allele and an insertion of a ~1.7-kb retrotransposon in exon 13 on the paternal allele.
|
30484961 |
2019 |
|
rs121908581
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Here we describe the generation of three induced pluripotent stem cell (iPSC) lines, KCi003-A, KCi003-B and KCi003-C from a patient with BBS and homozygous for the disease causing variant c.214G>A, p.(Gly72Ser) in BBS5.
|
31760295 |
2019 |
|
rs515726134
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Exome sequencing performed on a sporadic BBS case revealed for the first time a homozygous stop mutation (NM_001195306: c.173T>G, p.Leu58*) in the BBIP1 gene.
|
24026985 |
2014 |
|
rs137852857
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We show that the Bardet-Biedl syndrome-causing G141R mutation in BBS9 likely results in misfolding of the β-propeller.
|
26085087 |
2015 |
|
rs190983114
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In vivo functional modeling in zebrafish embryos demonstrated that c.14G>T is a loss-of-function variant, and suppression of nphp1 in concert with each of the primary BBS loci found in our NPHP1-positive pedigrees exacerbated the severity of the phenotype.
|
24746959 |
2014 |
|
rs747229370
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sequence analysis revealed a novel homozygous missense mutation (c.281T>C, p.Ile94Thr) in the gene ARL6 in family A and a nonsense mutation (c.1075C>T, p.Gln359*) in the gene BBS10 in family B. Mutations identified in the present study extend the body of evidence implicating the genes ARL6 and BBS10 in causing Bardet-Biedl syndrome.
|
23219996 |
2013 |
|
rs759882869
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sequence analysis revealed a novel homozygous missense mutation (c.281T>C, p.Ile94Thr) in the gene ARL6 in family A and a nonsense mutation (c.1075C>T, p.Gln359*) in the gene BBS10 in family B. Mutations identified in the present study extend the body of evidence implicating the genes ARL6 and BBS10 in causing Bardet-Biedl syndrome.
|
23219996 |
2013 |
|
rs767572725
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sequence analysis revealed a novel homozygous missense mutation (c.281T>C, p.Ile94Thr) in the gene ARL6 in family A and a nonsense mutation (c.1075C>T, p.Gln359*) in the gene BBS10 in family B. Mutations identified in the present study extend the body of evidence implicating the genes ARL6 and BBS10 in causing Bardet-Biedl syndrome.
|
23219996 |
2013 |
|
rs771054395
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sequence analysis revealed a novel homozygous missense mutation (c.281T>C, p.Ile94Thr) in the gene ARL6 in family A and a nonsense mutation (c.1075C>T, p.Gln359*) in the gene BBS10 in family B. Mutations identified in the present study extend the body of evidence implicating the genes ARL6 and BBS10 in causing Bardet-Biedl syndrome.
|
23219996 |
2013 |
|
rs771054395
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sequence analysis revealed a novel homozygous missense mutation (c.281T>C, p.Ile94Thr) in the gene ARL6 in family A and a nonsense mutation (c.1075C>T, p.Gln359*) in the gene BBS10 in family B. Mutations identified in the present study extend the body of evidence implicating the genes ARL6 and BBS10 in causing Bardet-Biedl syndrome.
|
23219996 |
2013 |
|
rs121908581
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
rs1057516533
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1060503692
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1064796315
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs111033570
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype.
|
21775502 |
2011 |
|
rs111033570
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Scapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota Hutterite.
|
23142638 |
2013 |
|
rs111033570
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene.
|
11822024 |
2002 |
|
rs111033570
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H.
|
15786463 |
2005 |
|
rs113994178
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1156913215
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
|
27486776 |
2016 |
|
rs1156913215
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.
|
25982971 |
2015 |