Gene: TUBB2B ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853194
rs137853194
TUBB2B
0.800 GeneticVariation UNIPROT De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy. 26732629

2016
dbSNP: rs137853195
rs137853195
TUBB2B
0.800 GeneticVariation UNIPROT De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy. 26732629

2016
dbSNP: rs137853196
rs137853196
TUBB2B
0.800 GeneticVariation UNIPROT De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy. 26732629

2016
dbSNP: rs397514567
rs397514567
TUBB2B
0.800 GeneticVariation UNIPROT De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy. 26732629

2016
dbSNP: rs397514568
rs397514568
TUBB2B
0.800 GeneticVariation UNIPROT De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy. 26732629

2016
dbSNP: rs397514569
rs397514569
TUBB2B
0.800 GeneticVariation UNIPROT De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy. 26732629

2016
dbSNP: rs398122369
rs398122369
TUBB2B
0.800 GeneticVariation UNIPROT De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy. 26732629

2016
dbSNP: rs878853284
rs878853284
TUBB2B
0.800 GeneticVariation UNIPROT De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy. 26732629

2016
dbSNP: rs137853194
rs137853194
TUBB2B
0.800 GeneticVariation UNIPROT An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. 23001566

2012
dbSNP: rs137853194
rs137853194
TUBB2B
0.800 GeneticVariation UNIPROT Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations. 22333901

2012
dbSNP: rs137853195
rs137853195
TUBB2B
0.800 GeneticVariation UNIPROT Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations. 22333901

2012
dbSNP: rs137853195
rs137853195
TUBB2B
0.800 GeneticVariation UNIPROT An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. 23001566

2012
dbSNP: rs137853196
rs137853196
TUBB2B
0.800 GeneticVariation UNIPROT Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations. 22333901

2012
dbSNP: rs137853196
rs137853196
TUBB2B
0.800 GeneticVariation UNIPROT An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. 23001566

2012
dbSNP: rs397514567
rs397514567
TUBB2B
0.800 GeneticVariation UNIPROT An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. 23001566

2012
dbSNP: rs397514567
rs397514567
TUBB2B
0.800 GeneticVariation UNIPROT Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations. 22333901

2012
dbSNP: rs397514568
rs397514568
TUBB2B
0.800 GeneticVariation UNIPROT An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. 23001566

2012
dbSNP: rs397514568
rs397514568
TUBB2B
0.800 GeneticVariation UNIPROT Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations. 22333901

2012
dbSNP: rs397514569
rs397514569
TUBB2B
0.800 GeneticVariation UNIPROT Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations. 22333901

2012
dbSNP: rs397514569
rs397514569
TUBB2B
0.800 GeneticVariation UNIPROT An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. 23001566

2012
dbSNP: rs398122369
rs398122369
TUBB2B
0.800 GeneticVariation UNIPROT An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. 23001566

2012
dbSNP: rs398122369
rs398122369
TUBB2B
0.800 GeneticVariation UNIPROT Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations. 22333901

2012
dbSNP: rs398122369
rs398122369
TUBB2B
T 0.800 CausalMutation CLINVAR An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. 23001566

2012
dbSNP: rs878853284
rs878853284
TUBB2B
0.800 GeneticVariation UNIPROT An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. 23001566

2012
dbSNP: rs878853284
rs878853284
TUBB2B
0.800 GeneticVariation UNIPROT Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations. 22333901

2012