×
Entrez Id:
166379
Gene Symbol:
BBS12
BBS12
Polydactyly
0.400
CausalMutation
CLINVAR
×
Entrez Id:
166379
Gene Symbol:
BBS12
BBS12
Bardet-Biedl Syndrome
0.180
GeneticVariation
CLINVAR
×
Entrez Id:
166379
Gene Symbol:
BBS12
BBS12
Nyctalopia
0.100
CausalMutation
CLINVAR
×
Entrez Id:
166379
Gene Symbol:
BBS12
BBS12
Low Vision
0.100
CausalMutation
CLINVAR
×
Entrez Id:
166379
Gene Symbol:
BBS12
BBS12
POLYDACTYLY, POSTAXIAL
0.100
CausalMutation
CLINVAR
×
Entrez Id:
166379
Gene Symbol:
BBS12
BBS12
Severe myopia
0.100
CausalMutation
CLINVAR
×
Entrez Id:
166379
Gene Symbol:
BBS12
BBS12
Delayed speech and language development
0.100
CausalMutation
CLINVAR
×
Entrez Id:
166379
Gene Symbol:
BBS12
BBS12
Retinal Dystrophies
0.100
CausalMutation
CLINVAR
×
Entrez Id:
166379
Gene Symbol:
BBS12
BBS12
Poor school performance
0.100
CausalMutation
CLINVAR
×
Entrez Id:
166379
Gene Symbol:
BBS12
BBS12
Abnormality of cardiovascular system morphology
0.100
CausalMutation
CLINVAR
×
Entrez Id:
166379
Gene Symbol:
BBS12
BBS12
Melanocortin 4 Receptor Deficiency
0.100
CausalMutation
CLINVAR
×
Entrez Id:
166379
Gene Symbol:
BBS12
BBS12
BARDET-BIEDL SYNDROME 12
0.700
GeneticVariation
CLINVAR
A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies.
20648243
2010
×
Entrez Id:
166379
Gene Symbol:
BBS12
BBS12
Bardet-Biedl Syndrome
0.180
CausalMutation
CLINVAR
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.
30614526
2019
×
Entrez Id:
166379
Gene Symbol:
BBS12
BBS12
Bardet-Biedl Syndrome
0.180
CausalMutation
CLINVAR
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
20080638
2010
×
Entrez Id:
166379
Gene Symbol:
BBS12
BBS12
Bardet-Biedl Syndrome
0.180
CausalMutation
CLINVAR
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.
20498079
2010
×
Entrez Id:
166379
Gene Symbol:
BBS12
BBS12
BARDET-BIEDL SYNDROME 12
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
×
Entrez Id:
166379
Gene Symbol:
BBS12
BBS12
BARDET-BIEDL SYNDROME 12
0.700
GeneticVariation
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
×
Entrez Id:
166379
Gene Symbol:
BBS12
BBS12
Bardet-Biedl Syndrome
0.180
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
×
Entrez Id:
166379
Gene Symbol:
BBS12
BBS12
BARDET-BIEDL SYNDROME 12
0.700
GeneticVariation
CLINVAR
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.
21642631
2011
×
Entrez Id:
166379
Gene Symbol:
BBS12
BBS12
BARDET-BIEDL SYNDROME 12
0.700
CausalMutation
CLINVAR
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.
21642631
2011
×
Entrez Id:
166379
Gene Symbol:
BBS12
BBS12
Bardet-Biedl Syndrome
0.180
CausalMutation
CLINVAR
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.
21642631
2011
×
Entrez Id:
166379
Gene Symbol:
BBS12
BBS12
Retinitis Pigmentosa
0.110
GeneticVariation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019
×
Entrez Id:
166379
Gene Symbol:
BBS12
BBS12
BARDET-BIEDL SYNDROME 12
0.700
GeneticVariation
CLINVAR
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.
25133751
2014
×
Entrez Id:
166379
Gene Symbol:
BBS12
BBS12
BARDET-BIEDL SYNDROME 12
0.700
GeneticVariation
CLINVAR
Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes.
24611592
2014
×
Entrez Id:
166379
Gene Symbol:
BBS12
BBS12
Bardet-Biedl Syndrome
0.180
CausalMutation
CLINVAR
Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes.
24611592
2014