Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs483352809
rs483352809
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6
T 0.800 CausalMutation CLINVAR Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies. 24850488 2014
dbSNP: rs483352809
rs483352809
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6
T 0.800 CausalMutation CLINVAR Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). 24706558 2014
dbSNP: rs483352809
rs483352809
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6
T 0.800 CausalMutation CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942 2014
dbSNP: rs483352809
rs483352809
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6
T 0.800 CausalMutation CLINVAR A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. 23582646 2013
dbSNP: rs483352809
rs483352809
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6
0.800 GeneticVariation UNIPROT A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. 23582646 2013
dbSNP: rs886039470
rs886039470
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6
T 0.700 CausalMutation CLINVAR Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients. 29451896 2018
dbSNP: rs767399782
rs767399782
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6
T 0.700 CausalMutation CLINVAR TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes. 28973395 2017
dbSNP: rs587777468
rs587777468
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6
A 0.700 CausalMutation CLINVAR TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients. 26643067 2016
dbSNP: rs797045074
rs797045074
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6
G 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs886041008
rs886041008
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6
T 0.700 CausalMutation CLINVAR TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients. 26643067 2016
dbSNP: rs886041010
rs886041010
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6
T 0.700 CausalMutation CLINVAR TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients. 26643067 2016
dbSNP: rs761635539
rs761635539
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6
A 0.700 CausalMutation CLINVAR Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia. 25772097 2015
dbSNP: rs886039470
rs886039470
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6
T 0.700 CausalMutation CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970 2015
dbSNP: rs886039470
rs886039470
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6
T 0.700 CausalMutation CLINVAR TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum. 25168210 2015
dbSNP: rs886039470
rs886039470
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6
T 0.700 CausalMutation CLINVAR A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease. 24974158 2015
dbSNP: rs886041012
rs886041012
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6
A 0.700 CausalMutation CLINVAR H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations? 25545912 2015
dbSNP: rs886041013
rs886041013
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6
A 0.700 CausalMutation CLINVAR H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations? 25545912 2015
dbSNP: rs886041017
rs886041017
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6
T 0.700 CausalMutation CLINVAR Exome sequencing in undiagnosed inherited and sporadic ataxias. 25497598 2015
dbSNP: rs886041022
rs886041022
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6
C 0.700 CausalMutation CLINVAR TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum. 25168210 2015
dbSNP: rs587776983
rs587776983
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6
A 0.700 CausalMutation CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942 2014
dbSNP: rs587777428
rs587777428
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6
T 0.700 CausalMutation CLINVAR Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies. 24850488 2014
dbSNP: rs587777429
rs587777429
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6
A 0.700 CausalMutation CLINVAR Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy. 24742798 2014
dbSNP: rs587777467
rs587777467
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6
T 0.700 CausalMutation CLINVAR Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies. 24850488 2014
dbSNP: rs587777467
rs587777467
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6
T 0.700 CausalMutation CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942 2014
dbSNP: rs587777468
rs587777468
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6
C 0.700 CausalMutation CLINVAR Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies. 24850488 2014