TBCK, TBC1 domain containing kinase, 93627

N. diseases: 85; N. variants: 11
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0264303
Disease:
Laryngomalacia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C3553450
Disease:
Profound global developmental delay 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4022735
Disease:
Cerebral white matter atrophy 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0022346
Disease:
Icterus 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560929669
rs1560929669
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4225161
Disease:
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs374319146
rs374319146
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0014544
Disease:
Epilepsy 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs374319146
rs374319146
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C1737329
Disease:
Dysmorphism 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs374319146
rs374319146
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C3150353
Disease:
Ventral septal defect (VSD) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs374319146
rs374319146
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0557874
Disease:
Global developmental delay 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs374319146
rs374319146
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs374319146
rs374319146
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4225161
Disease:
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs376699648
rs376699648
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4225161
Disease:
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		A 0.700 CausalMutation CLINVAR
dbSNP: rs62321379
rs62321379
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4225161
Disease:
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		C 0.700 CausalMutation CLINVAR
dbSNP: rs62321379
rs62321379
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4225161
Disease:
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs746860249
rs746860249
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4225161
Disease:
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		G 0.700 CausalMutation CLINVAR
dbSNP: rs771481304
rs771481304
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4225161
Disease:
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		C 0.700 CausalMutation CLINVAR
dbSNP: rs575822089
rs575822089
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0270971
Disease:
Floppy infant syndrome 		0.010 GeneticVariation BEFREE The neurological phenotype of children with TBCK p.R126X mutations, which we call TBCK-encephaloneuronopathy (TBCKE), include congenital hypotonia, progressive motor neuronopathy, leukoencephalopathy, and epilepsy. 29283439 2018
dbSNP: rs575822089
rs575822089
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0014544
Disease:
Epilepsy 		0.010 GeneticVariation BEFREE The neurological phenotype of children with TBCK p.R126X mutations, which we call TBCK-encephaloneuronopathy (TBCKE), include congenital hypotonia, progressive motor neuronopathy, leukoencephalopathy, and epilepsy. 29283439 2018