Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201108965
rs201108965
TMEM216
CUI: C1842577
Disease: JOUBERT SYNDROME 2
JOUBERT SYNDROME 2 		T 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs201108965
rs201108965
TMEM216
CUI: C1864148
Disease: MECKEL SYNDROME, TYPE 2
MECKEL SYNDROME, TYPE 2 		T 0.800 CausalMutation CLINVAR Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 22282472

2012
dbSNP: rs201108965
rs201108965
TMEM216
CUI: C1842577
Disease: JOUBERT SYNDROME 2
JOUBERT SYNDROME 2 		T 0.800 CausalMutation CLINVAR Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 22282472

2012
dbSNP: rs201108965
rs201108965
TMEM216
CUI: C1842577
Disease: JOUBERT SYNDROME 2
JOUBERT SYNDROME 2 		T 0.800 CausalMutation CLINVAR Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. 20036350

2010
dbSNP: rs201108965
rs201108965
TMEM216
CUI: C1864148
Disease: MECKEL SYNDROME, TYPE 2
MECKEL SYNDROME, TYPE 2 		T 0.800 CausalMutation CLINVAR Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 20512146

2010
dbSNP: rs201108965
rs201108965
TMEM216
CUI: C1864148
Disease: MECKEL SYNDROME, TYPE 2
MECKEL SYNDROME, TYPE 2 		T 0.800 CausalMutation CLINVAR Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. 20036350

2010
dbSNP: rs201108965
rs201108965
TMEM216
CUI: C1842577
Disease: JOUBERT SYNDROME 2
JOUBERT SYNDROME 2 		T 0.800 CausalMutation CLINVAR Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 20512146

2010
dbSNP: rs201108965
rs201108965
TMEM216
CUI: C1842577
Disease: JOUBERT SYNDROME 2
JOUBERT SYNDROME 2 		T 0.800 GeneticVariation CLINVAR

dbSNP: rs201108965
rs201108965
TMEM216
CUI: C1864148
Disease: MECKEL SYNDROME, TYPE 2
MECKEL SYNDROME, TYPE 2 		T 0.800 GeneticVariation CLINVAR

dbSNP: rs201108965
rs201108965
TMEM216
CUI: C1842577
Disease: JOUBERT SYNDROME 2
JOUBERT SYNDROME 2 		A 0.800 CausalMutation CLINVAR

dbSNP: rs779526456
rs779526456
TMEM216
CUI: C1842577
Disease: JOUBERT SYNDROME 2
JOUBERT SYNDROME 2 		T 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs1057517498
rs1057517498
TMEM216
CUI: C1842577
Disease: JOUBERT SYNDROME 2
JOUBERT SYNDROME 2 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517498
rs1057517498
TMEM216
CUI: C1864148
Disease: MECKEL SYNDROME, TYPE 2
MECKEL SYNDROME, TYPE 2 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517512
rs1057517512
TMEM216
CUI: C1864148
Disease: MECKEL SYNDROME, TYPE 2
MECKEL SYNDROME, TYPE 2 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517512
rs1057517512
TMEM216
CUI: C1842577
Disease: JOUBERT SYNDROME 2
JOUBERT SYNDROME 2 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517528
rs1057517528
TMEM216
CUI: C1842577
Disease: JOUBERT SYNDROME 2
JOUBERT SYNDROME 2 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517528
rs1057517528
TMEM216
CUI: C1864148
Disease: MECKEL SYNDROME, TYPE 2
MECKEL SYNDROME, TYPE 2 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs11230683
rs11230683
TMEM216
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		T 0.700 CausalMutation CLINVAR Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 28497568

2017
dbSNP: rs11230683
rs11230683
TMEM216
CUI: C1842577
Disease: JOUBERT SYNDROME 2
JOUBERT SYNDROME 2 		T 0.700 CausalMutation CLINVAR Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 28497568

2017
dbSNP: rs11230683
rs11230683
TMEM216
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs11230683
rs11230683
TMEM216
CUI: C1842577
Disease: JOUBERT SYNDROME 2
JOUBERT SYNDROME 2 		T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs11230683
rs11230683
TMEM216
CUI: C1842577
Disease: JOUBERT SYNDROME 2
JOUBERT SYNDROME 2 		T 0.700 CausalMutation CLINVAR Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. 23351400

2012
dbSNP: rs11230683
rs11230683
TMEM216
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		T 0.700 CausalMutation CLINVAR Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. 23351400

2012
dbSNP: rs11230683
rs11230683
TMEM216
CUI: C1842577
Disease: JOUBERT SYNDROME 2
JOUBERT SYNDROME 2 		T 0.700 GeneticVariation CLINVAR Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. 23351400

2012
dbSNP: rs11230683
rs11230683
TMEM216
CUI: C1864148
Disease: MECKEL SYNDROME, TYPE 2
MECKEL SYNDROME, TYPE 2 		T 0.700 GeneticVariation CLINVAR Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. 23351400

2012