Gene: ZDHHC24 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
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
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
G 0.750 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
G 0.750 CausalMutation CLINVAR Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. 27032803

2016
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
G 0.750 CausalMutation CLINVAR A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. 22581970

2012
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
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
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
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
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
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
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
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
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
G 0.750 CausalMutation CLINVAR Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation. 18766993

2008
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
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
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
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
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
G 0.750 CausalMutation CLINVAR Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. 15314642

2004
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
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
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
G 0.750 CausalMutation CLINVAR Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). 12524598

2003
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
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
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
G 0.750 CausalMutation CLINVAR Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 12118255

2002
dbSNP: rs1160669210
rs1160669210
BBS1 ; ZDHHC24
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: rs1486200900
rs1486200900
BBS1 ; ZDHHC24
G 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: rs1565287512
rs1565287512
BBS1 ; ZDHHC24
G 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: rs1565291081
rs1565291081
BBS1 ; ZDHHC24
G 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: rs746875134
rs746875134
BBS1 ; ZDHHC24
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: rs786204701
rs786204701
BBS1 ; ZDHHC24
C 0.700 GeneticVariation CLINVAR Diagnostic exome sequencing in 266 Dutch patients with visual impairment. 28224992

2017
dbSNP: rs587777830
rs587777830
BBS1 ; ZDHHC24
T 0.700 CausalMutation CLINVAR Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes. 26518167

2015
dbSNP: rs121917777
rs121917777
BBS1 ; ZDHHC24
T 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in Bardet-Biedl syndrome. 22410627

2012
dbSNP: rs786204701
rs786204701
BBS1 ; ZDHHC24
C 0.700 GeneticVariation CLINVAR BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. 23143442

2012