ADAMTSL4
ADAMTS like 4
Summary
This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Sep 2014]
Known Variants993 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1218791223 | 1:150,521,898 | C/T | — | uncertain significance |
| rs12061739 | 1:150,522,313 | C/T | — | benign |
| rs886045266 | 1:150,522,356 | G/A | — | uncertain significance |
| rs74743733 | 1:150,524,468 | G/A | — | likely benign |
| rs372594537 | 1:150,524,764 | G/A | — | uncertain significance |
| rs1671492010 | 1:150,524,770 | G/T | — | uncertain significance |
| rs1671492268 | 1:150,524,773 | C/G | — | uncertain significance |
| rs1030186631 | 1:150,524,796 | G/C | — | likely benign |
| rs1421838992 | 1:150,524,798 | C/T | — | likely benign |
| rs369699622 | 1:150,524,799 | C/T | — | likely benign |
| rs1464710055 | 1:150,524,801 | C/T | — | likely benign |
| rs371953947 | 1:150,524,802 | G/A | — | likely benign |
| rs1671499873 | 1:150,524,804 | G/A | — | likely benign |
| rs376352402 | 1:150,525,004 | G/C | — | likely benign |
| rs755600527 | 1:150,525,005 | C/A | — | likely benign |
| rs1217548059 | 1:150,525,006 | C/T | — | likely benign |
| rs781720703 | 1:150,525,007 | T/C | — | likely benign |
| rs2526573672 | 1:150,525,010 | G/T | — | likely benign |
| rs1671531928 | 1:150,525,011 | G/A | — | likely benign |
| rs1286015079 | 1:150,525,022 | C/G | — | likely benign |
| rs367669399 | 1:150,525,024 | G/A | — | pathogenic |
| rs1487675885 | 1:150,525,028 | G/A | — | likely benign |
| rs2526574287 | 1:150,525,046 | G/A | — | likely benign |
| rs2526574363 | 1:150,525,052 | C/T | — | likely benign |
| rs143132472 | 1:150,525,053 | C/T | — | uncertain significance |
| rs1300528220 | 1:150,525,067 | G/A | — | likely benign |
| rs2526574617 | 1:150,525,070 | T/C | — | likely benign |
| rs771686014 | 1:150,525,073 | G/A | — | likely benign |
| rs958813832 | 1:150,525,089 | C/A | — | likely benign |
| rs1467143152 | 1:150,525,096 | G/A | — | likely benign |
| rs2526582579 | 1:150,525,354 | T/C | — | likely benign |
| rs2526582652 | 1:150,525,356 | A/C | — | likely benign |
| rs977889757 | 1:150,525,357 | C/G | — | likely benign |
| rs1671568365 | 1:150,525,359 | T/C | — | likely benign |
| rs1488104169 | 1:150,525,363 | T/C | — | likely benign |
| rs2526582909 | 1:150,525,364 | C/G | — | likely benign |
| rs2526582967 | 1:150,525,366 | C/G | — | likely benign |
| rs2526583014 | 1:150,525,367 | T/C | — | likely benign |
| rs766686599 | 1:150,525,368 | A/G | — | likely benign |
| rs587776927 | 1:150,525,373 | G/A | — | pathogenic |
| rs1560284913 | 1:150,525,376 | G/A | — | likely benign |
| rs2526583364 | 1:150,525,377 | T/C | — | likely benign |
| rs202059899 | 1:150,525,382 | C/T | — | conflicting classifications of pathogenicity |
| rs755040821 | 1:150,525,383 | G/A | — | uncertain significance |
| rs781562228 | 1:150,525,389 | T/A | — | uncertain significance |
| rs2526583595 | 1:150,525,391 | T/C | — | likely benign |
| rs2526583727 | 1:150,525,400 | A/G | — | likely benign |
| rs751940403 | 1:150,525,403 | T/A | — | likely benign |
| rs760309871 | 1:150,525,406 | A/C | — | likely benign |
| rs778236726 | 1:150,525,412 | G/A | — | likely benign |
| rs2526583999 | 1:150,525,415 | C/T | — | likely benign |
| rs1671577609 | 1:150,525,420 | G/A | — | uncertain significance |
| rs587760979 | 1:150,525,424 | C/T | — | likely benign |
| rs41317513 | 1:150,525,425 | A/G | — | benign |
| rs746529379 | 1:150,525,426 | A/G | — | uncertain significance |
| rs1488734185 | 1:150,525,429 | G/A | — | uncertain significance |
| rs2526584426 | 1:150,525,431 | G/A | — | uncertain significance |
| rs768099905 | 1:150,525,436 | G/A | — | pathogenic |
| rs2526585174 | 1:150,525,454 | G/A | — | pathogenic |
| rs150631268 | 1:150,525,457 | C/T | — | conflicting classifications of pathogenicity |
| rs762836841 | 1:150,525,467 | C/T | — | pathogenic |
| rs1024281147 | 1:150,525,475 | C/T | — | likely benign |
| rs759709764 | 1:150,525,476 | G/A | — | uncertain significance |
| rs767591627 | 1:150,525,478 | G/A | — | likely benign |
| rs587755814 | 1:150,525,481 | G/C | — | likely benign |
| rs1671586897 | 1:150,525,484 | G/T | — | likely benign |
| rs754048794 | 1:150,525,485 | G/A | — | uncertain significance |
| rs1671587514 | 1:150,525,487 | G/A | — | likely benign |
| rs374443010 | 1:150,525,491 | C/T | — | uncertain significance |
| rs757553666 | 1:150,525,492 | G/A | — | uncertain significance |
| rs754479372 | 1:150,525,500 | C/T | — | uncertain significance |
| rs2526586605 | 1:150,525,505 | A/T | — | likely benign |
| rs1212152911 | 1:150,525,514 | C/A | — | likely benign |
| rs1171578506 | 1:150,525,523 | G/A | — | likely benign |
| rs147688134 | 1:150,525,527 | C/T | — | uncertain significance |
| rs963323596 | 1:150,525,532 | C/A | — | uncertain significance |
| rs146377111 | 1:150,525,534 | C/T | — | uncertain significance |
| rs775692968 | 1:150,525,535 | G/A | — | likely benign |
| rs1165572545 | 1:150,525,543 | C/T | — | uncertain significance |
| rs754288272 | 1:150,525,544 | C/T | — | likely benign |
| rs2101569998 | 1:150,525,546 | T/C | — | uncertain significance |
| rs1189770054 | 1:150,525,547 | C/T | — | likely benign |
| rs1570924460 | 1:150,525,550 | T/A | — | likely benign |
| rs757643403 | 1:150,525,554 | C/T | — | uncertain significance |
| rs199599791 | 1:150,525,555 | G/A | — | uncertain significance |
| rs1560285895 | 1:150,525,580 | C/T | — | likely benign |
| rs144538837 | 1:150,525,583 | C/A | — | likely benign |
| rs148393631 | 1:150,525,587 | C/T | — | conflicting classifications of pathogenicity |
| rs587593757 | 1:150,525,588 | G/A | — | uncertain significance |
| rs587688843 | 1:150,525,591 | G/A | — | uncertain significance |
| rs2526589589 | 1:150,525,597 | G/A | — | uncertain significance |
| rs745633055 | 1:150,525,598 | T/C | — | likely benign |
| rs1463260564 | 1:150,525,601 | C/G | — | likely benign |
| rs775513427 | 1:150,525,606 | C/T | — | uncertain significance |
| rs1216728326 | 1:150,525,613 | T/A | — | likely benign |
| rs1472641341 | 1:150,525,625 | C/T | — | likely benign |
| rs1339979975 | 1:150,525,631 | C/T | — | likely benign |
| rs2526591172 | 1:150,525,649 | T/C | — | likely benign |
| rs587619212 | 1:150,525,650 | C/T | — | uncertain significance |
| rs201047866 | 1:150,525,651 | G/A | — | uncertain significance |
Showing 100 of 993 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.