TBL2
transducin beta like 2
Summary
This gene encodes a member of the beta-transducin protein family. Most proteins of the beta-transducin family are involved in regulatory functions. This protein is possibly involved in some intracellular signaling pathway. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]
Known Variants54 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs17145738 | 7:72,982,874 | C/T | downstream gene variant | — |
| rs13232120 | 7:72,983,310 | A/T | 3 prime UTR variant | — |
| rs14415 | 7:72,984,780 | T/A | — | — |
| rs529493631 | 7:72,984,900 | C/G | — | uncertain significance |
| rs781960303 | 7:72,984,908 | G/A | — | uncertain significance |
| rs782325805 | 7:72,984,913 | C/T | — | likely benign |
| rs374301480 | 7:72,984,929 | G/A | — | uncertain significance |
| rs1554587178 | 7:72,984,949 | T/C | — | uncertain significance |
| rs551317109 | 7:72,984,991 | C/T | — | uncertain significance |
| rs782328335 | 7:72,984,997 | G/A | — | uncertain significance |
| rs200012711 | 7:72,985,024 | C/T | — | uncertain significance |
| rs149685073 | 7:72,985,072 | C/T | — | likely benign |
| rs782487301 | 7:72,985,102 | C/G | — | uncertain significance |
| rs782749144 | 7:72,985,165 | A/G | — | uncertain significance |
| rs782071345 | 7:72,985,174 | C/T | — | uncertain significance |
| rs782702563 | 7:72,985,179 | C/T | — | likely benign |
| rs146437532 | 7:72,985,185 | G/A | — | likely benign |
| rs371243496 | 7:72,985,238 | T/G | — | likely benign |
| rs1554587357 | 7:72,985,253 | C/T | — | uncertain significance |
| rs200952341 | 7:72,985,281 | A/T | — | uncertain significance |
| rs199828921 | 7:72,985,305 | G/A | — | likely benign |
| rs185080024 | 7:72,985,522 | C/T | — | conflicting classifications of pathogenicity |
| rs782001587 | 7:72,985,559 | C/T | — | uncertain significance |
| rs1584024119 | 7:72,985,590 | C/A | — | likely benign |
| rs1792935383 | 7:72,985,625 | C/T | — | uncertain significance |
| rs141739395 | 7:72,985,627 | T/G | — | benign |
| rs145601505 | 7:72,985,664 | C/A | — | uncertain significance |
| rs1793049686 | 7:72,987,198 | T/G | — | uncertain significance |
| rs543014802 | 7:72,987,209 | C/T | — | uncertain significance |
| rs61736741 | 7:72,987,212 | C/T | — | benign |
| rs148602652 | 7:72,987,226 | T/C | — | uncertain significance |
| rs782306855 | 7:72,987,270 | G/C | — | uncertain significance |
| rs782781029 | 7:72,987,292 | T/C | — | uncertain significance |
| rs2286276 | 7:72,987,354 | C/T | regulatory region variant | — |
| rs141209031 | 7:72,987,681 | C/T | — | likely benign |
| rs35659126 | 7:72,988,069 | C/T | intron variant | — |
| rs782339649 | 7:72,988,298 | G/A | — | uncertain significance |
| rs782320508 | 7:72,988,305 | C/T | — | uncertain significance |
| rs78529661 | 7:72,988,309 | C/T | — | benign |
| rs553121995 | 7:72,988,316 | T/C | — | uncertain significance |
| rs200534976 | 7:72,988,326 | T/G | — | uncertain significance |
| rs141002736 | 7:72,988,371 | G/A | — | uncertain significance |
| rs187359522 | 7:72,988,709 | G/A | — | likely benign |
| rs202092725 | 7:72,988,777 | C/T | — | uncertain significance |
| rs557638748 | 7:72,988,784 | A/G | — | likely benign |
| rs540133753 | 7:72,988,807 | G/A | — | likely benign |
| rs1584033528 | 7:72,989,141 | C/A | — | — |
| rs35348663 | 7:72,991,593 | G/A | — | — |
| rs12540011 | 7:72,991,704 | G/A | regulatory region variant | — |
| rs201337053 | 7:72,992,763 | G/T | — | likely benign |
| rs2485161554 | 7:72,992,764 | C/T | — | uncertain significance |
| rs1554589519 | 7:72,992,795 | G/A | — | uncertain significance |
| rs781866230 | 7:72,992,860 | G/A | — | uncertain significance |
| rs12666883 | 7:72,994,476 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.