rs1057516533
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057517332
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
|
12118255 |
2002 |
rs1060503690
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs113624356
|
|
G |
0.750 |
CausalMutation |
CLINVAR |
Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.
|
12837689 |
2003 |
rs113624356
|
|
G |
0.750 |
CausalMutation |
CLINVAR |
A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.
|
22581970 |
2012 |
rs113624356
|
|
G |
0.750 |
CausalMutation |
CLINVAR |
A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.
|
18032602 |
2007 |
rs113624356
|
|
G |
0.750 |
CausalMutation |
CLINVAR |
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.
|
30614526 |
2019 |
rs113624356
|
|
G |
0.750 |
CausalMutation |
CLINVAR |
Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene.
|
22940089 |
2012 |
rs113624356
|
|
G |
0.750 |
CausalMutation |
CLINVAR |
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
|
12118255 |
2002 |
rs113624356
|
|
G |
0.750 |
CausalMutation |
CLINVAR |
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.
|
20498079 |
2010 |
rs113624356
|
|
G |
0.750 |
CausalMutation |
CLINVAR |
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.
|
15314642 |
2004 |
rs113624356
|
|
G |
0.750 |
CausalMutation |
CLINVAR |
Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation.
|
18766993 |
2008 |
rs113624356
|
|
G |
0.750 |
CausalMutation |
CLINVAR |
A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands.
|
18669544 |
2009 |
rs113624356
|
|
G |
0.750 |
CausalMutation |
CLINVAR |
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
|
12524598 |
2003 |
rs113624356
|
|
G |
0.750 |
CausalMutation |
CLINVAR |
Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography.
|
17980398 |
2008 |
rs113624356
|
|
G |
0.750 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs113624356
|
|
G |
0.750 |
CausalMutation |
CLINVAR |
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
|
12677556 |
2003 |
rs113624356
|
|
G |
0.750 |
CausalMutation |
CLINVAR |
In an RP proband who did not fulfill the clinical criteria for BBS, we identified a large homozygous region encompassing the BBS1 gene, which carried the p.M390R variant.
|
23143442 |
2012 |
rs113624356
|
|
G |
0.750 |
CausalMutation |
CLINVAR |
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.
|
27032803 |
2016 |
rs113994179
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs113994180
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1160669210
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.
|
30614526 |
2019 |
rs121917777
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.
|
21642631 |
2011 |
rs121917777
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
|
15770229 |
2005 |
rs121917777
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Dissection of epistasis in oligogenic Bardet-Biedl syndrome.
|
16327777 |
2006 |