Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912606
rs121912606
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
CUI: C2676771
Disease:
JOUBERT SYNDROME 8 (disorder) 		0.800 GeneticVariation UNIPROT Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity. 25138100 2015
dbSNP: rs121912608
rs121912608
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
CUI: C2676771
Disease:
JOUBERT SYNDROME 8 (disorder) 		0.800 GeneticVariation UNIPROT Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity. 25138100 2015
dbSNP: rs121912608
rs121912608
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
CUI: C2676771
Disease:
JOUBERT SYNDROME 8 (disorder) 		T 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs863225430
rs863225430
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
CUI: C2676771
Disease:
JOUBERT SYNDROME 8 (disorder) 		0.800 GeneticVariation UNIPROT Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity. 25138100 2015
dbSNP: rs121912606
rs121912606
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
CUI: C2676771
Disease:
JOUBERT SYNDROME 8 (disorder) 		0.800 GeneticVariation UNIPROT Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. 18674751 2008
dbSNP: rs121912608
rs121912608
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
CUI: C2676771
Disease:
JOUBERT SYNDROME 8 (disorder) 		0.800 GeneticVariation UNIPROT Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. 18674751 2008
dbSNP: rs863225430
rs863225430
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
CUI: C2676771
Disease:
JOUBERT SYNDROME 8 (disorder) 		0.800 GeneticVariation UNIPROT Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. 18674751 2008
dbSNP: rs121912606
rs121912606
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
CUI: C2676771
Disease:
JOUBERT SYNDROME 8 (disorder) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs863225430
rs863225430
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
CUI: C2676771
Disease:
JOUBERT SYNDROME 8 (disorder) 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121912607
rs121912607
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
CUI: C2676771
Disease:
JOUBERT SYNDROME 8 (disorder) 		A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs758972393
rs758972393
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
CUI: C2676771
Disease:
JOUBERT SYNDROME 8 (disorder) 		G 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs863225149
rs863225149
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
CUI: C2676771
Disease:
JOUBERT SYNDROME 8 (disorder) 		G 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs1560002959
rs1560002959
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
CUI: C2676771
Disease:
JOUBERT SYNDROME 8 (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs764109067
rs764109067
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
CUI: C1864785
Disease:
Normal kidneys 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs764109067
rs764109067
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
CUI: C2881341
Disease:
Hypermetropia, bilateral 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs764109067
rs764109067
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
CUI: C0854723
Disease:
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs764109067
rs764109067
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
CUI: C0022595
Disease:
Keratosis Follicularis 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs764109067
rs764109067
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
CUI: C0220726
Disease:
Diastrophic dysplasia 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs764109067
rs764109067
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
CUI: C0431399
Disease:
Familial aplasia of the vermis 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1378981995
rs1378981995
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
CUI: C3714756
Disease:
Intellectual Disability 		0.010 GeneticVariation BEFREE Here we report a novel homozygous missense variant c.[223G>A] (p.(Gly75Arg) in the ARL13B gene, which was identified by whole-exome sequencing of a trio from a consanguineous family with multiple-affected individuals suffering from intellectual disability, ataxia, ocular defects, and epilepsy. 29255182 2017
dbSNP: rs1378981995
rs1378981995
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
CUI: C0431399
Disease:
Familial aplasia of the vermis 		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: rs1378981995
rs1378981995
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
CUI: C0014544
Disease:
Epilepsy 		0.010 GeneticVariation BEFREE Here we report a novel homozygous missense variant c.[223G>A] (p.(Gly75Arg) in the ARL13B gene, which was identified by whole-exome sequencing of a trio from a consanguineous family with multiple-affected individuals suffering from intellectual disability, ataxia, ocular defects, and epilepsy. 29255182 2017