Gene: BBS12 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918327
rs121918327
BBS12
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: rs1339432710
rs1339432710
BBS12
TA 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: rs138011813
rs138011813
BBS12
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: rs565073445
rs565073445
BBS12
C 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: rs587777803
rs587777803
BBS12
A 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: rs752202089
rs752202089
BBS12
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: rs767068756
rs767068756
BBS12
C 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: rs1553941369
rs1553941369
BBS12
C 0.700 CausalMutation CLINVAR Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. 23591405

2014
dbSNP: rs587777803
rs587777803
BBS12
A 0.700 CausalMutation CLINVAR Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes. 24611592

2014
dbSNP: rs1269565757
rs1269565757
BBS12
T 0.700 CausalMutation CLINVAR Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 21642631

2011
dbSNP: rs752202089
rs752202089
BBS12
T 0.700 CausalMutation CLINVAR Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 21642631

2011
dbSNP: rs1269565757
rs1269565757
BBS12
T 0.700 CausalMutation CLINVAR Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10. 20827784

2010
dbSNP: rs138011813
rs138011813
BBS12
T 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: rs138011813
rs138011813
BBS12
T 0.700 CausalMutation CLINVAR BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. 20080638

2010
dbSNP: rs587777803
rs587777803
BBS12
A 0.700 CausalMutation CLINVAR Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10. 20827784

2010
dbSNP: rs752202089
rs752202089
BBS12
T 0.700 CausalMutation CLINVAR Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10. 20827784

2010
dbSNP: rs1553941369
rs1553941369
BBS12
C 0.700 CausalMutation CLINVAR Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. 17160889

2007
dbSNP: rs587777803
rs587777803
BBS12
A 0.700 CausalMutation CLINVAR Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. 17160889

2007
dbSNP: rs1381368546
rs1381368546
BBS12
A 0.700 CausalMutation CLINVAR

dbSNP: rs1397714772
rs1397714772
BBS12
C 0.700 CausalMutation CLINVAR

dbSNP: rs746478265
rs746478265
BBS12
T 0.700 GeneticVariation CLINVAR

dbSNP: rs770872200
rs770872200
BBS12
CT 0.700 CausalMutation CLINVAR