Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201893408
rs201893408
TMEM67
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. 27491411

2016
dbSNP: rs201893408
rs201893408
TMEM67
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR Joubert syndrome: genotyping a Northern European patient cohort. 25920555

2016
dbSNP: rs201893408
rs201893408
TMEM67
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs201893408
rs201893408
TMEM67
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR Unraveling the genetics of Joubert and Meckel-Gruber syndromes. 25729630

2014
dbSNP: rs201893408
rs201893408
TMEM67
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409

2013
dbSNP: rs201893408
rs201893408
TMEM67
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 20232449

2010
dbSNP: rs201893408
rs201893408
TMEM67
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260

2010
dbSNP: rs201893408
rs201893408
TMEM67
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969

2009
dbSNP: rs201893408
rs201893408
TMEM67
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR Joubert syndrome: insights into brain development, cilium biology, and complex disease. 19778711

2009
dbSNP: rs201893408
rs201893408
TMEM67
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome. 10508989

1999