Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796053403
rs796053403
T 0.700 CausalMutation CLINVAR Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. 28292732

2017

dbSNP: rs796053403
rs796053403
T 0.700 CausalMutation CLINVAR TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus. 28428906

2017

dbSNP: rs796053403
rs796053403
T 0.700 CausalMutation CLINVAR Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability. 28663785

2017

dbSNP: rs796053403
rs796053403
T 0.700 CausalMutation CLINVAR Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations. 27541164

2016

dbSNP: rs796053403
rs796053403
T 0.700 CausalMutation CLINVAR TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features. 27281533

2016

dbSNP: rs796053403
rs796053403
T 0.700 CausalMutation CLINVAR Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability. 25769375

2015

dbSNP: rs796053403
rs796053403
T 0.700 CausalMutation CLINVAR A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement. 26207815

2015

dbSNP: rs796053403
rs796053403
T 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014

dbSNP: rs796053403
rs796053403
T 0.700 CausalMutation CLINVAR Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. 24387994

2014

dbSNP: rs796053403
rs796053403
T 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014

dbSNP: rs796053403
rs796053403
T 0.700 CausalMutation CLINVAR TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway. 24469796

2014