TUBGCP2
tubulin gamma complex component 2
Summary
Predicted to enable gamma-tubulin binding activity. Predicted to contribute to microtubule minus-end binding activity. Involved in brain development and neuron migration. Located in centrosome; ciliary basal body; and nucleoplasm. Implicated in pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants129 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1374992751 | 10:135,093,278 | C/T | — | uncertain significance |
| rs749253324 | 10:135,093,279 | G/A | — | likely benign |
| rs182252179 | 10:135,093,294 | G/A | — | likely benign |
| rs763452490 | 10:135,093,307 | G/A | — | conflicting classifications of pathogenicity |
| rs894172094 | 10:135,093,329 | C/G | — | uncertain significance |
| rs544214141 | 10:135,093,332 | G/T | — | uncertain significance |
| rs372338719 | 10:135,093,376 | C/T | — | uncertain significance |
| rs766195152 | 10:135,093,394 | T/C | — | uncertain significance |
| rs776361666 | 10:135,094,787 | C/T | — | uncertain significance |
| rs200867693 | 10:135,094,835 | G/A | — | uncertain significance |
| rs202151296 | 10:135,094,872 | G/T | — | uncertain significance |
| rs769462501 | 10:135,094,895 | C/T | — | uncertain significance |
| rs370230871 | 10:135,094,896 | G/C | — | uncertain significance |
| rs767506396 | 10:135,095,735 | C/T | — | likely benign |
| rs147917925 | 10:135,095,750 | C/T | — | conflicting classifications of pathogenicity |
| rs568511079 | 10:135,095,759 | C/T | — | uncertain significance |
| rs373693348 | 10:135,095,762 | C/A | — | uncertain significance |
| rs367838838 | 10:135,095,817 | G/A | — | uncertain significance |
| rs112390120 | 10:135,095,851 | G/T | — | likely benign |
| rs141749772 | 10:135,096,591 | G/A | — | benign |
| rs1847030906 | 10:135,096,598 | A/C | — | uncertain significance |
| rs2493598653 | 10:135,096,663 | G/A | — | likely benign |
| rs549305914 | 10:135,096,691 | G/A | — | uncertain significance |
| rs147096812 | 10:135,096,710 | C/T | — | uncertain significance |
| rs752657891 | 10:135,096,732 | G/A | — | likely benign |
| rs148160847 | 10:135,097,397 | T/C | — | uncertain significance |
| rs2493602179 | 10:135,097,415 | A/T | — | uncertain significance |
| rs747333591 | 10:135,097,420 | G/T | — | uncertain significance |
| rs771226552 | 10:135,097,433 | C/T | — | uncertain significance |
| rs2995326 | 10:135,097,434 | A/G | — | benign |
| rs202173821 | 10:135,097,449 | T/C | — | likely benign |
| rs752025289 | 10:135,097,505 | A/G | — | uncertain significance |
| rs1589822227 | 10:135,097,508 | T/C | — | pathogenic |
| rs750962752 | 10:135,098,596 | C/T | — | uncertain significance |
| rs138725290 | 10:135,098,611 | G/A | — | likely benign |
| rs2493605594 | 10:135,098,613 | T/C | — | uncertain significance |
| rs3008334 | 10:135,098,672 | G/A | — | benign |
| rs369104689 | 10:135,098,726 | G/A | — | likely benign |
| rs377558241 | 10:135,098,753 | C/T | — | likely benign |
| rs200647875 | 10:135,098,943 | G/A | — | likely benign |
| rs1297482861 | 10:135,098,963 | T/C | — | uncertain significance |
| rs1248246633 | 10:135,098,971 | G/A | — | likely benign |
| rs1449999247 | 10:135,099,012 | C/G | — | conflicting classifications of pathogenicity |
| rs374883403 | 10:135,099,021 | C/T | — | uncertain significance |
| rs142228780 | 10:135,099,030 | C/T | — | likely benign |
| rs148546996 | 10:135,099,038 | G/A | — | uncertain significance |
| rs151132456 | 10:135,099,053 | G/A | — | likely benign |
| rs1175803756 | 10:135,101,636 | G/A | — | uncertain significance |
| rs373197759 | 10:135,101,714 | C/T | — | likely benign |
| rs2493615449 | 10:135,101,766 | T/C | — | uncertain significance |
| rs776913388 | 10:135,101,803 | G/A | — | uncertain significance |
| rs2493615607 | 10:135,101,815 | T/C | — | uncertain significance |
| rs142094189 | 10:135,102,367 | C/G | — | uncertain significance |
| rs2493617821 | 10:135,102,503 | C/G | — | uncertain significance |
| rs1439576941 | 10:135,102,517 | A/G | — | likely benign |
| rs142969989 | 10:135,102,561 | T/C | intron variant | — |
| rs148388653 | 10:135,103,353 | T/C | — | likely benign |
| rs141945979 | 10:135,103,416 | G/A | — | likely benign |
| rs2493621050 | 10:135,103,418 | T/C | — | uncertain significance |
| rs769773225 | 10:135,103,445 | G/A | — | uncertain significance |
| rs145657678 | 10:135,103,451 | C/T | — | conflicting classifications of pathogenicity |
| rs2493621267 | 10:135,103,468 | A/G | — | uncertain significance |
| rs1457541607 | 10:135,103,474 | C/G | — | uncertain significance |
| rs113035234 | 10:135,104,827 | C/T | — | likely benign |
| rs4993735 | 10:135,105,966 | G/A | — | benign |
| rs2864768 | 10:135,105,983 | C/T | — | benign |
| rs72864793 | 10:135,105,991 | G/A | — | benign |
| rs201310809 | 10:135,105,996 | G/A | — | likely benign |
| rs138296826 | 10:135,106,008 | T/C | — | likely benign |
| rs76511868 | 10:135,106,014 | G/A | — | likely benign |
| rs150553293 | 10:135,106,039 | T/C | — | uncertain significance |
| rs774853843 | 10:135,106,070 | C/T | — | uncertain significance |
| rs199910091 | 10:135,106,072 | G/A | — | conflicting classifications of pathogenicity |
| rs144608474 | 10:135,106,102 | G/A | — | uncertain significance |
| rs112795322 | 10:135,106,137 | G/A | — | likely benign |
| rs147567537 | 10:135,106,173 | G/A | — | likely benign |
| rs368785559 | 10:135,106,181 | C/T | — | uncertain significance |
| rs567120644 | 10:135,106,184 | C/T | — | uncertain significance |
| rs375061031 | 10:135,106,533 | G/A | — | likely benign |
| rs200320382 | 10:135,106,539 | G/A | — | likely benign |
| rs151077269 | 10:135,106,544 | G/A | — | likely benign |
| rs141042122 | 10:135,106,550 | G/A | — | likely benign |
| rs34832477 | 10:135,106,570 | G/A | — | uncertain significance |
| rs140733403 | 10:135,106,607 | C/T | — | likely benign |
| rs201567115 | 10:135,106,608 | G/A | — | uncertain significance |
| rs2493637870 | 10:135,106,636 | C/T | — | pathogenic |
| rs200129338 | 10:135,106,678 | G/A | — | conflicting classifications of pathogenicity |
| rs145624268 | 10:135,106,685 | G/A | — | likely benign |
| rs138230773 | 10:135,106,689 | G/A | — | uncertain significance |
| rs1847405768 | 10:135,106,710 | C/T | — | uncertain significance |
| rs150131271 | 10:135,106,712 | G/A | — | likely benign |
| rs564190437 | 10:135,106,719 | A/C | — | uncertain significance |
| rs111387511 | 10:135,106,733 | T/C | — | likely benign |
| rs1360074402 | 10:135,107,065 | C/G | — | uncertain significance |
| rs766939009 | 10:135,107,077 | G/A | — | likely benign |
| rs760015497 | 10:135,107,082 | A/T | — | uncertain significance |
| rs148337741 | 10:135,107,088 | C/T | — | uncertain significance |
| rs1174308288 | 10:135,107,120 | C/T | — | uncertain significance |
| rs267602423 | 10:135,107,131 | G/C | — | uncertain significance |
| rs756056879 | 10:135,107,160 | G/A | — | uncertain significance |
Showing 100 of 129 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.