Gene: BBS2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767373822
rs767373822
BBS2
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
dbSNP: rs1273181642
rs1273181642
BBS2
A 0.700 CausalMutation CLINVAR Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes. 28800606

2017
dbSNP: rs567573386
rs567573386
BBS2
A 0.700 GeneticVariation CLINVAR Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome. 25988237

2016
dbSNP: rs121908176
rs121908176
BBS2
A 0.700 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
dbSNP: rs121908179
rs121908179
BBS2
G 0.700 CausalMutation CLINVAR Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. 25541840

2015
dbSNP: rs138043021
rs138043021
BBS2
G 0.700 CausalMutation CLINVAR Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. 25412400

2015
dbSNP: rs138043021
rs138043021
BBS2
G 0.700 CausalMutation CLINVAR Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. 25541840

2015
dbSNP: rs567573386
rs567573386
BBS2
A 0.700 GeneticVariation CLINVAR Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing. 25999675

2015
dbSNP: rs121908179
rs121908179
BBS2
G 0.700 CausalMutation CLINVAR Carrier frequency of two BBS2 mutations in the Ashkenazi population. 23829372

2014
dbSNP: rs1273181642
rs1273181642
BBS2
A 0.700 CausalMutation CLINVAR Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis. 23432027

2014
dbSNP: rs138043021
rs138043021
BBS2
G 0.700 CausalMutation CLINVAR Carrier frequency of two BBS2 mutations in the Ashkenazi population. 23829372

2014
dbSNP: rs138043021
rs138043021
BBS2
G 0.700 CausalMutation CLINVAR Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing. 25133751

2014
dbSNP: rs778090540
rs778090540
BBS2
A 0.700 CausalMutation CLINVAR Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing. 24608809

2014
dbSNP: rs121908179
rs121908179
BBS2
G 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in Bardet-Biedl syndrome. 22410627

2012
dbSNP: rs138043021
rs138043021
BBS2
G 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in Bardet-Biedl syndrome. 22410627

2012
dbSNP: rs121908176
rs121908176
BBS2
A 0.700 CausalMutation CLINVAR Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome. 21157496

2011
dbSNP: rs121908176
rs121908176
BBS2
A 0.700 CausalMutation CLINVAR Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. 21052717

2011
dbSNP: rs121908177
rs121908177
BBS2
A 0.700 CausalMutation CLINVAR Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 21642631

2011
dbSNP: rs121908177
rs121908177
BBS2
A 0.700 CausalMutation CLINVAR Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. 21052717

2011
dbSNP: rs121908179
rs121908179
BBS2
G 0.700 CausalMutation CLINVAR BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540

2011
dbSNP: rs138043021
rs138043021
BBS2
G 0.700 CausalMutation CLINVAR BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540

2011
dbSNP: rs567573386
rs567573386
BBS2
A 0.700 GeneticVariation CLINVAR BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540

2011
dbSNP: rs778090540
rs778090540
BBS2
A 0.700 CausalMutation CLINVAR Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. 21052717

2011
dbSNP: rs121908175
rs121908175
BBS2
C 0.700 CausalMutation CLINVAR Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. 20498079

2010
dbSNP: rs121908175
rs121908175
BBS2
C 0.700 CausalMutation CLINVAR Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. 20177705

2010