Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918198
rs121918198
RPGRIP1L
0.710 GeneticVariation BEFREE Our studies confirm that a T615P mutation represents the most common mutation in the RPGRIP1L gene causing disease in about 8-10% of JS type B patients negative for NPHP1, NPHP6, or AHI1 mutations. 17960139

2007
dbSNP: rs137852832
rs137852832
CEP290
0.710 GeneticVariation BEFREE By studying patient biopsies, patient-derived kidney cells, and a mouse model, we identify abnormal elongation of primary cilia as a key pathophysiological feature of <i>CEP290</i>-associated JBTS and show that antisense oligonucleotide (ASO)-induced splicing of the mutated exon (41, G1890*) restores protein expression in patient cells. 30446612

2018
dbSNP: rs775883520
rs775883520
TMEM67
0.710 GeneticVariation BEFREE We propose that Asn242Ser is a founder mutation in the Iranian population, which might explain a significant proportion of JS cases from eastern Iran. 28719906

2017
dbSNP: rs121434350
rs121434350
AHI1
0.010 GeneticVariation BEFREE We show that cells transfected with AHI1-V443D, or a new JBTS-causing mutation, AHI1-R351L, have aberrant localization of AHI1 at the basal bodies of PC and at cell-cell junctions, likely through decreased binding of mutant AHI1 to NPHP1 (another JBTS-causing protein). 23532844

2013
dbSNP: rs1378981995
rs1378981995
ARL13B
0.010 GeneticVariation BEFREE In contrast, ARL13B-c.[223G>A] (p.(Gly75Arg) displayed a marked loss of ARL3 guanine nucleotide-exchange factor activity, with retention of its GTPase activities, highlighting the correlation between its loss of function as an ARL3 guanine nucleotide-exchange factor and Joubert syndrome. 29255182

2017
dbSNP: rs144610914
rs144610914
PIBF1
0.010 GeneticVariation BEFREE Here we report on the identification of novel compound heterozygous variants (p.Y503C and p.Q485<sup>*</sup>) in the centrosomal gene <i>PIBF1</i> in a patient with JS via trio whole exome sequencing. 30858804

2019
dbSNP: rs1469312062
rs1469312062
CEL
0.010 GeneticVariation BEFREE Our studies confirm that a T615P mutation represents the most common mutation in the RPGRIP1L gene causing disease in about 8-10% of JS type B patients negative for NPHP1, NPHP6, or AHI1 mutations. 17960139

2007
dbSNP: rs367600930
rs367600930
CEP120
0.010 GeneticVariation BEFREE The point mutations V194A and A199P, which cause Joubert syndrome (JS) and Jeune asphyxiating thoracic dystrophy (JATD), respectively, both reduce the thermostability of the second C2 domain by targeting residues that point toward its hydrophobic core. 29847808

2018
dbSNP: rs397514726
rs397514726
AHI1
0.010 GeneticVariation BEFREE We show that cells transfected with AHI1-V443D, or a new JBTS-causing mutation, AHI1-R351L, have aberrant localization of AHI1 at the basal bodies of PC and at cell-cell junctions, likely through decreased binding of mutant AHI1 to NPHP1 (another JBTS-causing protein). 23532844

2013
dbSNP: rs752037863
rs752037863
RASGRF1 ; LOC105370917
0.010 GeneticVariation BEFREE In contrast, ARL13B-c.[223G>A] (p.(Gly75Arg) displayed a marked loss of ARL3 guanine nucleotide-exchange factor activity, with retention of its GTPase activities, highlighting the correlation between its loss of function as an ARL3 guanine nucleotide-exchange factor and Joubert syndrome. 29255182

2017
dbSNP: rs755276263
rs755276263
NPHP1
0.010 GeneticVariation BEFREE Our studies confirm that a T615P mutation represents the most common mutation in the RPGRIP1L gene causing disease in about 8-10% of JS type B patients negative for NPHP1, NPHP6, or AHI1 mutations. 17960139

2007
dbSNP: rs771866500
rs771866500
INPP5E
0.010 GeneticVariation BEFREE Here, we report the detailed clinical phenotypes of two sisters with a novel homozygous variant in INPP5E (NM_019892.4: c.1565G>C, NP_063945.2: p.Gly552Ala), expanding the phenotype associated with Joubert syndrome type 1. 29052317

2017
dbSNP: rs780163791
rs780163791
AHI1
0.010 GeneticVariation BEFREE By whole-exome sequencing (WES) in a consanguineous family with congenital non-syndromic deafness, we unexpectedly identified a homozygous nonsense variant, p.Arg1066*, in AHI1, a gene associated with Joubert syndrome (JBTS), a severe recessive ciliopathy. 25616960

2015
dbSNP: rs863225135
rs863225135
AHI1
0.010 GeneticVariation BEFREE In order to elucidate ciliopathy-associated molecular mechanisms, human induced pluripotent stem cells (hiPSCs) were derived from a patient affected by JS carrying a homozygous missense mutation in the AHI1 gene (p.H896R) that encodes a protein named Jouberin. 29334628

2018
dbSNP: rs886039282
rs886039282
TICRR ; KIF7
0.010 GeneticVariation BEFREE Our analysis resulted in the identification of a homozygous p.N1060S missense mutation in a highly conserved residue in KIF7, a regulator of Hedgehog signaling that has been recently found to be causing Joubert syndrome, fetal hydrolethalus and acrocallosal syndromes. 22587682

2012
dbSNP: rs137852832
rs137852832
CEP290
A 0.710 CausalMutation CLINVAR The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. 16682973

2006
dbSNP: rs137852832
rs137852832
CEP290
A 0.710 CausalMutation CLINVAR 12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4. 23954617

2013
dbSNP: rs137852832
rs137852832
CEP290
A 0.710 CausalMutation CLINVAR Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. 21245082

2011
dbSNP: rs137852832
rs137852832
CEP290
A 0.710 CausalMutation CLINVAR Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. 16682970

2006
dbSNP: rs137852832
rs137852832
CEP290
A 0.710 CausalMutation CLINVAR Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290. 22355252

2012
dbSNP: rs137852832
rs137852832
CEP290
A 0.710 CausalMutation CLINVAR Development of end-stage renal disease at a young age in two cases with Joubert syndrome. 25818971

2016
dbSNP: rs137852832
rs137852832
CEP290
A 0.710 CausalMutation CLINVAR CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 17564967

2007
dbSNP: rs137852832
rs137852832
CEP290
A 0.710 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs137852832
rs137852832
CEP290
A 0.710 CausalMutation CLINVAR Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. 21068128

2011
dbSNP: rs137852832
rs137852832
CEP290
A 0.710 CausalMutation CLINVAR Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. 27353947

2016