TUBB2B Chromosome 6

Tubulin beta 2B class IIb
59 variants 59 Health Risk

Upload your DNA to see your personal genotypes for variants in TUBB2B.

What This Gene Does
The protein encoded by this gene is a beta isoform of tubulin, which binds GTP and is a major component of microtubules. This gene is highly similar to TUBB2A and TUBB2C. Defects in this gene are a cause of asymmetric polymicrogyria. [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
Tubulin beta family
Locus Type
gene with protein product
Location
6p25.2
Ensembl
ENSG00000137285
Associated Conditions (6)
Inborn genetic diseases
TUBB2B-related disorder
Complex cortical dysplasia with other brain malformations 7
Lissencephaly
Tubulinopathy
Congenital bilateral perisylvian syndrome
Key Variants
RS1057520391
Conflicting classifications of pathogenicity
Inborn genetic diseases, TUBB2B-related disorder, Inborn genetic diseases
Health Risk
RS1412515838
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 7, Inborn genetic diseases, Complex cortical dysplasia with other brain malformations 7
Health Risk
RS1554126865
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
Health Risk
RS1554126902
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
Health Risk
RS1581525683
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
Health Risk
RS2113819014
Conflicting classifications of pathogenicity
Health Risk
RS397514568
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
Health Risk
RS587784499
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
Health Risk
RS587784500
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
Health Risk
RS777598117
Conflicting classifications of pathogenicity
Health Risk
RS797046075
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
Health Risk
RS1057517932
Likely pathogenic
Health Risk
All Variants (59)
RSID Category Clinical Significance Conditions
RS1057520391 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TUBB2B-related disorder, Inborn genetic diseases
RS1412515838 Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 7, Inborn genetic diseases, Complex cortical dysplasia with other brain malformations 7
RS1554126865 Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS1554126902 Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS1581525683 Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS2113819014 Health Risk Conflicting classifications of pathogenicity —
RS397514568 Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS587784499 Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS587784500 Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS777598117 Health Risk Conflicting classifications of pathogenicity —
RS797046075 Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS1057517932 Health Risk Likely pathogenic —
RS1064794314 Health Risk Likely pathogenic —
RS1135401758 Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS1403441857 Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS1468452245 Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS1554126886 Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 7, Lissencephaly, Complex cortical dysplasia with other brain malformations 7
RS1554126925 Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS1554126964 Health Risk Likely pathogenic —
RS1561826759 Health Risk Likely pathogenic —
RS1581525766 Health Risk Likely pathogenic —
RS1757276859 Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS1757277674 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1757279879 Health Risk Likely pathogenic Lissencephaly, Lissencephaly
RS201922441 Health Risk Likely pathogenic Inborn genetic diseases, TUBB2B-related disorder, Complex cortical dysplasia with other brain malformations 7
RS2113818913 Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS2113819002 Health Risk Likely pathogenic —
RS2113819019 Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS2113819025 Health Risk Likely pathogenic —
RS2113819161 Health Risk Likely pathogenic —
RS2113819578 Health Risk Likely pathogenic —
RS2113820430 Health Risk Likely pathogenic —
RS2533617289 Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS2533617467 Health Risk Likely pathogenic —
RS2533617485 Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS2533617541 Health Risk Likely pathogenic —
RS2533617572 Health Risk Likely pathogenic —
RS2533617634 Health Risk Likely pathogenic Tubulinopathy, Tubulinopathy
RS397514569 Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS587784502 Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS756024033 Health Risk Likely pathogenic —
RS1057520787 Health Risk Pathogenic —
RS137853194 Health Risk Pathogenic Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS137853195 Health Risk Pathogenic Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS137853196 Health Risk Pathogenic Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS1581526962 Health Risk Pathogenic Complex cortical dysplasia with other brain malformations 7, Inborn genetic diseases, Complex cortical dysplasia with other brain malformations 7
RS1757271243 Health Risk Pathogenic Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS2113818998 Health Risk Pathogenic —
RS2113819124 Health Risk Pathogenic —
RS2533616954 Health Risk Pathogenic —
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