Gene: CPLANE1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs149170427
rs149170427
CPLANE1
A 0.800 CausalMutation CLINVAR Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia. 28431631

2017
dbSNP: rs149170427
rs149170427
CPLANE1
A 0.800 CausalMutation CLINVAR Molecular genetic analysis of 30 families with Joubert syndrome. 27434533

2016
dbSNP: rs869312898
rs869312898
CPLANE1
C 0.800 GeneticVariation CLINVAR Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. 25846457

2015
dbSNP: rs149170427
rs149170427
CPLANE1
A 0.800 CausalMutation CLINVAR C5orf42 is the major gene responsible for OFD syndrome type VI. 24178751

2014
dbSNP: rs149170427
rs149170427
CPLANE1
A 0.800 CausalMutation CLINVAR Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. 24091540

2013
dbSNP: rs375009168
rs375009168
CPLANE1
A 0.800 CausalMutation CLINVAR

dbSNP: rs606231261
rs606231261
CPLANE1
G 0.800 CausalMutation CLINVAR

dbSNP: rs606231259
rs606231259
CPLANE1
A 0.700 CausalMutation CLINVAR Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. 28289185

2017
dbSNP: rs777686211
rs777686211
CPLANE1
T 0.700 CausalMutation CLINVAR Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. 28125082

2017
dbSNP: rs606231259
rs606231259
CPLANE1
A 0.700 CausalMutation CLINVAR Joubert syndrome: genotyping a Northern European patient cohort. 25920555

2016
dbSNP: rs1554064102
rs1554064102
CPLANE1
GC 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs374144275
rs374144275
CPLANE1
A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs606231259
rs606231259
CPLANE1
A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs749523755
rs749523755
CPLANE1
T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs749523755
rs749523755
CPLANE1
T 0.700 CausalMutation CLINVAR Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? 25407461

2015
dbSNP: rs756856188
rs756856188
CPLANE1
T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs777686211
rs777686211
CPLANE1
T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs606231259
rs606231259
CPLANE1
A 0.700 CausalMutation CLINVAR C5orf42 is the major gene responsible for OFD syndrome type VI. 24178751

2014
dbSNP: rs1321423759
rs1321423759
CPLANE1
T 0.700 GeneticVariation CLINVAR Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360

2012
dbSNP: rs1414913269
rs1414913269
CPLANE1
G 0.700 GeneticVariation CLINVAR Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360

2012
dbSNP: rs1561376123
rs1561376123
CPLANE1
G 0.700 CausalMutation CLINVAR Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360

2012
dbSNP: rs1561458987
rs1561458987
CPLANE1
T 0.700 GeneticVariation CLINVAR Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360

2012
dbSNP: rs1187142382
rs1187142382
CPLANE1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1228082731
rs1228082731
CPLANE1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1345413118
rs1345413118
CPLANE1
A 0.700 CausalMutation CLINVAR