FBLN2
fibulin 2
Summary
This gene encodes an extracellular matrix protein, which belongs to the fibulin family. This protein binds various extracellular ligands and calcium. It may play a role during organ development, in particular, during the differentiation of heart, skeletal and neuronal structures. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Known Variants102 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2167196 | 3:13,593,475 | G/C | — | — |
| rs993545808 | 3:13,611,880 | G/A | — | uncertain significance |
| rs375179920 | 3:13,611,925 | G/A | — | uncertain significance |
| rs754715705 | 3:13,611,931 | G/A | — | likely benign |
| rs777965029 | 3:13,611,956 | C/T | — | uncertain significance |
| rs201140245 | 3:13,612,026 | G/A | — | benign |
| rs767350852 | 3:13,612,093 | C/G | — | uncertain significance |
| rs368647652 | 3:13,612,100 | G/A | — | uncertain significance |
| rs2470690207 | 3:13,612,265 | T/G | — | uncertain significance |
| rs373443082 | 3:13,612,279 | G/A | — | uncertain significance |
| rs377252006 | 3:13,612,297 | G/A | — | uncertain significance |
| rs375093754 | 3:13,612,307 | C/G | — | uncertain significance |
| rs1226704070 | 3:13,612,330 | G/A | — | uncertain significance |
| rs1305200312 | 3:13,612,370 | A/G | — | uncertain significance |
| rs764308242 | 3:13,612,381 | G/C | — | uncertain significance |
| rs1291611527 | 3:13,612,387 | C/T | — | uncertain significance |
| rs369891750 | 3:13,612,435 | G/A | — | uncertain significance |
| rs772268800 | 3:13,612,495 | G/C | — | uncertain significance |
| rs200074635 | 3:13,612,508 | C/T | — | uncertain significance |
| rs3821789 | 3:13,612,600 | G/A | — | uncertain significance |
| rs2470691445 | 3:13,612,618 | A/C | — | uncertain significance |
| rs2470691650 | 3:13,612,673 | T/C | — | uncertain significance |
| rs781397710 | 3:13,612,762 | G/A | — | uncertain significance |
| rs111389908 | 3:13,612,786 | G/A | — | benign |
| rs1224264696 | 3:13,612,835 | G/A | — | uncertain significance |
| rs552087510 | 3:13,612,913 | C/T | — | likely benign |
| rs369046020 | 3:13,612,929 | T/A | — | uncertain significance |
| rs373163875 | 3:13,612,933 | C/T | — | uncertain significance |
| rs199766689 | 3:13,612,934 | C/T | — | likely benign |
| rs3732666 | 3:13,612,936 | A/G | missense variant | — |
| rs758652354 | 3:13,612,957 | G/C | — | uncertain significance |
| rs1175308472 | 3:13,613,063 | G/A | — | likely benign |
| rs7623097 | 3:13,613,064 | A/G | synonymous variant | — |
| rs766901448 | 3:13,649,619 | A/T | — | uncertain significance |
| rs942015622 | 3:13,655,544 | T/A | — | uncertain significance |
| rs1306553303 | 3:13,655,551 | C/T | — | uncertain significance |
| rs556782652 | 3:13,655,632 | G/A | — | uncertain significance |
| rs1439812320 | 3:13,655,644 | C/T | — | uncertain significance |
| rs370888583 | 3:13,659,594 | C/T | — | uncertain significance |
| rs772952388 | 3:13,659,629 | G/A | — | uncertain significance |
| rs767840890 | 3:13,659,648 | C/T | — | uncertain significance |
| rs1034136152 | 3:13,660,419 | A/G | — | uncertain significance |
| rs573410581 | 3:13,660,494 | T/A | — | uncertain significance |
| rs749311967 | 3:13,660,497 | C/T | — | uncertain significance |
| rs2470044486 | 3:13,661,250 | G/A | — | uncertain significance |
| rs41293411 | 3:13,661,285 | C/T | — | likely benign |
| rs61731208 | 3:13,661,297 | C/T | — | benign |
| rs752155970 | 3:13,661,302 | C/T | — | uncertain significance |
| rs781729573 | 3:13,661,304 | A/G | — | uncertain significance |
| rs770624201 | 3:13,661,311 | C/T | — | uncertain significance |
| rs1044877805 | 3:13,663,317 | G/A | — | uncertain significance |
| rs557175061 | 3:13,664,834 | A/G | — | — |
| rs745603167 | 3:13,667,969 | T/A | — | uncertain significance |
| rs201379020 | 3:13,667,983 | C/T | — | uncertain significance |
| rs1057035894 | 3:13,667,984 | G/A | — | uncertain significance |
| rs1344519536 | 3:13,668,034 | C/G | — | uncertain significance |
| rs2470055343 | 3:13,668,050 | G/A | — | uncertain significance |
| rs372657305 | 3:13,669,347 | C/T | — | uncertain significance |
| rs781322694 | 3:13,669,371 | C/T | — | uncertain significance |
| rs763000970 | 3:13,669,433 | G/A | — | uncertain significance |
| rs747315120 | 3:13,670,423 | C/T | — | uncertain significance |
| rs1279657678 | 3:13,670,440 | C/T | — | uncertain significance |
| rs759531504 | 3:13,670,441 | G/A | — | uncertain significance |
| rs535304469 | 3:13,670,480 | C/A | — | uncertain significance |
| rs2242023 | 3:13,670,481 | G/A | — | benign |
| rs61731214 | 3:13,670,493 | C/A | — | benign |
| rs534802167 | 3:13,670,495 | C/G | — | uncertain significance |
| rs2470059550 | 3:13,670,501 | T/C | — | uncertain significance |
| rs772029530 | 3:13,670,507 | C/T | — | uncertain significance |
| rs906192559 | 3:13,670,533 | G/T | — | uncertain significance |
| rs9843344 | 3:13,670,536 | G/A | — | benign |
| rs376360301 | 3:13,670,666 | G/A | — | uncertain significance |
| rs1200500080 | 3:13,670,763 | A/T | — | uncertain significance |
| rs4684968 | 3:13,670,776 | C/T | — | benign |
| rs752560087 | 3:13,670,780 | C/T | — | uncertain significance |
| rs767696016 | 3:13,670,789 | A/G | — | likely benign |
| rs571760387 | 3:13,671,350 | G/A | — | uncertain significance |
| rs775097816 | 3:13,671,365 | C/T | — | uncertain significance |
| rs200076998 | 3:13,671,392 | G/A | — | uncertain significance |
| rs749578203 | 3:13,671,431 | G/A | — | uncertain significance |
| rs2470061690 | 3:13,671,442 | G/A | — | uncertain significance |
| rs573052769 | 3:13,672,201 | G/A | — | uncertain significance |
| rs374893838 | 3:13,672,217 | C/T | — | uncertain significance |
| rs1235663366 | 3:13,672,294 | G/A | — | uncertain significance |
| rs368216614 | 3:13,672,885 | G/A | — | uncertain significance |
| rs376648664 | 3:13,672,925 | A/T | — | uncertain significance |
| rs201101253 | 3:13,672,930 | A/G | — | uncertain significance |
| rs376960243 | 3:13,672,937 | C/G | — | uncertain significance |
| rs200790135 | 3:13,678,020 | G/A | — | uncertain significance |
| rs781052911 | 3:13,678,029 | G/A | — | uncertain significance |
| rs373718966 | 3:13,678,044 | C/A | — | uncertain significance |
| rs757534373 | 3:13,679,109 | C/T | — | uncertain significance |
| rs199626220 | 3:13,679,124 | C/G | — | uncertain significance |
| rs200284680 | 3:13,679,148 | C/T | — | uncertain significance |
| rs138833534 | 3:13,679,149 | G/A | — | benign |
| rs535892420 | 3:13,679,213 | A/G | — | uncertain significance |
| rs200405326 | 3:13,679,250 | A/G | — | uncertain significance |
| rs778004911 | 3:13,679,262 | G/A | — | uncertain significance |
| rs373305821 | 3:13,679,318 | C/T | — | uncertain significance |
| rs1061376 | 3:13,679,335 | C/T | synonymous variant | — |
Showing 100 of 102 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.