Polymicrogyria due to TUBB2B mutation: genes and variants
Explore variant evidence for Polymicrogyria due to TUBB2B mutation across 2 analyzed proteins (TUBB2B, TUBB3). Linked ClinVar records include 46 pathogenic or likely pathogenic variants, 23 variants of uncertain significance and 16 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Polymicrogyria due to TUBB2B mutation
TUBB2B: Tubulin beta-2B chain
It contributes to neuronal microtubules needed for progenitor division, neuronal migration, axon development, and cortical organization. Heterozygous pathogenic variants cause tubulinopathy with polymicrogyria, cortical dysplasia, developmental delay, and sometimes epilepsy.
23 ClinVar pathogenic / likely pathogenic and 23 uncertain variants in TUBB2B have source records linked to Polymicrogyria due to TUBB2B mutation. Association strength is not clinical gene validity.
TUBB3: Tubulin beta-3 chain
It forms neuronal microtubules required for axon growth, guidance, and intracellular transport. Heterozygous pathogenic variants can cause congenital fibrosis of the extraocular muscles type 3 and broader tubulinopathy phenotypes with brain and cranial-nerve abnormalities.
23 ClinVar pathogenic / likely pathogenic and 16 uncertain variants in TUBB3 have source records linked to Polymicrogyria due to TUBB2B mutation. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Polymicrogyria due to TUBB2B mutation
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TUBB3 G98S | 98 | Pathogenic / likely pathogenic (★★★★) | |
| TUBB2B R380C | 380 | Pathogenic / likely pathogenic (★★) | |
| TUBB2B R380H | 380 | Pathogenic / likely pathogenic (★★) | |
| TUBB2B R380L | 380 | Pathogenic / likely pathogenic (★★) | |
| TUBB3 R380C | 380 | Pathogenic / likely pathogenic (★★) | |
| TUBB2B P357L | 357 | Pathogenic / likely pathogenic (★★) | |
| TUBB2B P173R | 173 | Pathogenic / likely pathogenic (★★) | |
| TUBB3 E205K | 205 | Pathogenic / likely pathogenic (★★) | |
| TUBB3 E288K | 288 | Pathogenic / likely pathogenic (★★) | |
| TUBB2B Q291K | 291 | Pathogenic / likely pathogenic (★★) | |
| TUBB2B C303Y | 303 | Pathogenic / likely pathogenic (★★) | |
| TUBB2B P259L | 259 | Pathogenic / likely pathogenic (★★) | |
| TUBB3 G142S | 142 | Pathogenic / likely pathogenic (★★) | |
| TUBB3 V175L | 175 | Pathogenic / likely pathogenic (★★) | |
| TUBB3 T178M | 178 | Pathogenic / likely pathogenic (★★) | |
| TUBB3 S230L | 230 | Pathogenic / likely pathogenic (★★) | |
| TUBB3 M388V | 388 | Pathogenic / likely pathogenic (★★) | |
| TUBB3 R391L | 391 | Pathogenic / likely pathogenic (★★) | |
| TUBB3 D417N | 417 | Pathogenic / likely pathogenic (★★) | |
| TUBB3 G71R | 71 | Pathogenic / likely pathogenic (★★) | |
| TUBB3 V255I | 255 | Pathogenic / likely pathogenic (★★) | |
| TUBB3 L273V | 273 | Pathogenic / likely pathogenic (★★) | |
| TUBB2B S172L | 172 | Pathogenic / likely pathogenic (★) | |
| TUBB2B C211Y | 211 | Pathogenic / likely pathogenic (★) | |
| TUBB3 R380S | 380 | Pathogenic / likely pathogenic (★) | |
| TUBB3 R380P | 380 | Pathogenic / likely pathogenic (★) | |
| TUBB2B Y208N | 208 | Pathogenic / likely pathogenic (★) | |
| TUBB2B I210T | 210 | Pathogenic / likely pathogenic (★) | |
| TUBB3 E205Q | 205 | Pathogenic / likely pathogenic (★) | |
| TUBB3 E288A | 288 | Pathogenic / likely pathogenic (★) | |
| TUBB2B N204I | 204 | Pathogenic / likely pathogenic (★) | |
| TUBB2B L228P | 228 | Pathogenic / likely pathogenic (★) | |
| TUBB2B F265L | 265 | Pathogenic / likely pathogenic (★) | |
| TUBB2B S322F | 322 | Pathogenic / likely pathogenic (★) | |
| TUBB2B M388L | 388 | Pathogenic / likely pathogenic (★) | |
| TUBB2B F81L | 81 | Pathogenic / likely pathogenic (★) | |
| TUBB2B R282P | 282 | Pathogenic / likely pathogenic (★) | |
| TUBB3 V60L | 60 | Pathogenic / likely pathogenic (★) | |
| TUBB3 Y310C | 310 | Pathogenic / likely pathogenic (★) | |
| TUBB2B C201F | 201 | Pathogenic / likely pathogenic (★) | |
| TUBB2B S172P | 172 | Pathogenic / likely pathogenic | |
| TUBB3 A302V | 302 | Pathogenic / likely pathogenic | |
| TUBB2B C239F | 239 | Pathogenic / likely pathogenic | |
| TUBB2B D417N | 417 | Pathogenic / likely pathogenic | |
| TUBB3 H105N | 105 | Pathogenic / likely pathogenic | |
| TUBB3 V193M | 193 | Pathogenic / likely pathogenic |
Which prediction tools work for Polymicrogyria due to TUBB2B mutation
Observed separation of ClinVar pathogenic / likely pathogenic from benign / likely benign variants (AUROC × 100). This benchmark is not a clinical recommendation.
- SIFT: 70 out of 100
- PolyPhen-2: 62 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- REVEL: 54 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CATVariant: 52 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CADD: 42 out of 100
- phyloP: 24 out of 100
Same protein, different disease
- Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement also has ClinVar records linked to TUBB3 variants; they fall partly in the same places as the Polymicrogyria due to TUBB2B mutation variants (6 pathogenic / likely pathogenic).
Diseases related to Polymicrogyria due to TUBB2B mutation
- Ovarian cancer, also linked to TUBB2B and TUBB3
- Non-small cell lung carcinoma, also linked to TUBB2B and TUBB3
- Multiple myeloma, also linked to TUBB2B and TUBB3
- Familial Mediterranean fever, also linked to TUBB2B and TUBB3
- Myocardial infarction, also linked to TUBB2B and TUBB3
- Prostate cancer, also linked to TUBB2B and TUBB3
- Gastric neoplasm, also linked to TUBB2B and TUBB3
- Tubulinopathy, also linked to TUBB2B
- Male infertility with azoospermia or oligozoospermia due to single gene mutation, also linked to TUBB3
- Spastic ataxia, also linked to TUBB3
- Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement, also linked to TUBB3
- TUBB3-related tubulinopathy, also linked to TUBB3
Frequently asked questions
Which genes have records linked to Polymicrogyria due to TUBB2B mutation?
This view contains 2 analyzed proteins: TUBB2B, TUBB3. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 46 pathogenic or likely pathogenic variants, 23 variants of uncertain significance and 16 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 99 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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